Unip_acc	Unip_ID	Unip_POS	AA_Ref	AA_Alt	Type	Disease
A0A087X1C5	CP2D7_HUMAN	383	H	R	Polymorphism	-
A0A087X1C5	CP2D7_HUMAN	311	S	L	Polymorphism	-
A0A087X1C5	CP2D7_HUMAN	70	S	N	Polymorphism	-
A0A087X1C5	CP2D7_HUMAN	428	K	E	Polymorphism	-
A0A0A6YYL3	POTEB_HUMAN	531	T	A	Polymorphism	-
A0A0A6YYL3	POTEB_HUMAN	498	K	M	Polymorphism	-
A0A0A6YYL3	POTEB_HUMAN	249	E	Q	Polymorphism	-
A0A0A6YYL3	POTEB_HUMAN	492	L	S	Polymorphism	-
A0A0C4DH32	HV320_HUMAN	41	C	F	Polymorphism	-
A0A0C5B5G6	MOTSC_HUMAN	14	K	Q	Unclassified	-
A0AV02	S12A8_HUMAN	266	L	P	Polymorphism	-
A0AV02	S12A8_HUMAN	664	R	Q	Polymorphism	-
A0AV02	S12A8_HUMAN	281	I	V	Polymorphism	-
A0AV02	S12A8_HUMAN	181	R	C	Polymorphism	-
A0AV02	S12A8_HUMAN	541	K	R	Polymorphism	-
A0AV96	RBM47_HUMAN	565	M	V	Polymorphism	-
A0AV96	RBM47_HUMAN	538	G	R	Polymorphism	-
A0AVF1	IFT56_HUMAN	310	D	N	Polymorphism	-
A0AVI2	FR1L5_HUMAN	687	T	A	Polymorphism	-
A0AVI2	FR1L5_HUMAN	354	I	T	Polymorphism	-
A0AVI4	TM129_HUMAN	83	L	I	Polymorphism	-
A0AVK6	E2F8_HUMAN	674	I	V	Polymorphism	-
A0AVT1	UBA6_HUMAN	224	A	T	Polymorphism	-
A0FGR8	ESYT2_HUMAN	638	S	G	Polymorphism	-
A0FGR8	ESYT2_HUMAN	210	C	S	Polymorphism	-
A0FGR9	ESYT3_HUMAN	590	G	R	Polymorphism	-
A0FGR9	ESYT3_HUMAN	416	G	R	Polymorphism	-
A0FGR9	ESYT3_HUMAN	246	P	Q	Polymorphism	-
A0FGR9	ESYT3_HUMAN	662	T	S	Polymorphism	-
A0JNW5	UH1BL_HUMAN	1111	M	L	Polymorphism	-
A0JNW5	UH1BL_HUMAN	1175	I	V	Polymorphism	-
A0JNW5	UH1BL_HUMAN	1147	S	L	Polymorphism	-
A0JP26	POTB3_HUMAN	535	M	K	Polymorphism	-
A0JP26	POTB3_HUMAN	286	Q	E	Polymorphism	-
A0JP26	POTB3_HUMAN	30	H	D	Polymorphism	-
A0JP26	POTB3_HUMAN	203	D	G	Polymorphism	-
A0JP26	POTB3_HUMAN	43	M	V	Polymorphism	-
A0JP26	POTB3_HUMAN	568	A	T	Polymorphism	-
A0JP26	POTB3_HUMAN	88	N	D	Polymorphism	-
A0JP26	POTB3_HUMAN	511	K	E	Polymorphism	-
A0M8Q6	IGLC7_HUMAN	34	N	Y	Polymorphism	-
A0PG75	PLS5_HUMAN	110	R	S	Polymorphism	-
A0PJK1	SC5AA_HUMAN	522	A	V	Polymorphism	-
A0PJW6	TM223_HUMAN	28	T	A	Polymorphism	-
A0PJW6	TM223_HUMAN	196	V	G	Polymorphism	-
A0PJW8	DAPL1_HUMAN	60	L	P	Polymorphism	-
A0PJW8	DAPL1_HUMAN	66	A	T	Polymorphism	-
A0PJX0	CIB4_HUMAN	181	H	R	Polymorphism	-
A0PJX2	TLDC2_HUMAN	102	G	R	Polymorphism	-
A0PJX4	SHSA3_HUMAN	13	W	C	Polymorphism	-
A0PJX8	TMM82_HUMAN	284	R	H	Polymorphism	-
A0PJY2	FEZF1_HUMAN	278	H	Y	Disease	Hypogonadotropic hypogonadism 22 with or without anosmia (HH22) [MIM:616030]
A0PK11	CLRN2_HUMAN	153	A	T	Polymorphism	-
A0PK11	CLRN2_HUMAN	113	L	V	Polymorphism	-
A1A4F0	S66AL_HUMAN	4	V	L	Polymorphism	-
A1A4S6	RHG10_HUMAN	684	M	V	Polymorphism	-
A1A4S6	RHG10_HUMAN	488	P	S	Polymorphism	-
A1A4Y4	IRGM_HUMAN	94	T	K	Polymorphism	-
A1A4Y4	IRGM_HUMAN	17	E	D	Polymorphism	-
A1A519	F170A_HUMAN	173	P	S	Polymorphism	-
A1A5B4	ANO9_HUMAN	391	I	V	Polymorphism	-
A1A5B4	ANO9_HUMAN	399	C	R	Polymorphism	-
A1A5B4	ANO9_HUMAN	93	L	F	Polymorphism	-
A1A5D9	BICL2_HUMAN	55	Q	E	Polymorphism	-
A1A5D9	BICL2_HUMAN	273	Q	R	Polymorphism	-
A1E959	ODAM_HUMAN	222	I	T	Polymorphism	-
A1E959	ODAM_HUMAN	269	E	D	Unclassified	A colorectal cancer sample
A1IGU5	ARH37_HUMAN	518	S	R	Polymorphism	-
A1IGU5	ARH37_HUMAN	489	P	L	Polymorphism	-
A1IGU5	ARH37_HUMAN	604	M	V	Polymorphism	-
A1IGU5	ARH37_HUMAN	586	P	T	Polymorphism	-
A1IGU5	ARH37_HUMAN	421	M	L	Polymorphism	-
A1KZ92	PXDNL_HUMAN	981	M	V	Polymorphism	-
A1KZ92	PXDNL_HUMAN	1327	V	D	Polymorphism	-
A1KZ92	PXDNL_HUMAN	343	I	T	Polymorphism	-
A1KZ92	PXDNL_HUMAN	616	D	A	Polymorphism	-
A1KZ92	PXDNL_HUMAN	1399	R	K	Polymorphism	-
A1KZ92	PXDNL_HUMAN	583	R	Q	Polymorphism	-
A1KZ92	PXDNL_HUMAN	1452	D	E	Polymorphism	-
A1L0T0	ILVBL_HUMAN	510	R	Q	Polymorphism	-
A1L0T0	ILVBL_HUMAN	374	N	D	Polymorphism	-
A1L157	TSN11_HUMAN	190	V	A	Polymorphism	-
A1L190	SYCE3_HUMAN	88	L	P	Polymorphism	-
A1L390	PKHG3_HUMAN	1014	R	H	Polymorphism	-
A1L390	PKHG3_HUMAN	1036	R	W	Polymorphism	-
A1L443	NTM2F_HUMAN	176	R	G	Polymorphism	-
A1L443	NTM2F_HUMAN	137	S	C	Polymorphism	-
A1L453	PRS38_HUMAN	204	M	V	Polymorphism	-
A1L4K1	FSD2_HUMAN	720	E	K	Polymorphism	-
A1L4K1	FSD2_HUMAN	333	K	T	Polymorphism	-
A1L4L8	PL8L1_HUMAN	11	C	S	Polymorphism	-
A1X283	SPD2B_HUMAN	101	Y	F	Polymorphism	-
A1X283	SPD2B_HUMAN	43	R	W	Disease	Frank-Ter Haar syndrome (FTHS) [MIM:249420]
A1XBS5	FA92A_HUMAN	222	R	Q	Polymorphism	-
A1Z1Q3	MACD2_HUMAN	58	T	I	Polymorphism	-
A1Z1Q3	MACD2_HUMAN	335	T	M	Polymorphism	-
A2A288	ZC12D_HUMAN	53	P	L	Polymorphism	-
A2A288	ZC12D_HUMAN	106	K	R	Unclassified	Some sporadic lung cancer sample
A2A2Y4	FRMD3_HUMAN	485	D	Y	Polymorphism	-
A2A368	MAGBG_HUMAN	248	M	V	Polymorphism	-
A2A368	MAGBG_HUMAN	248	M	K	Polymorphism	-
A2A368	MAGBG_HUMAN	38	L	F	Polymorphism	-
A2A368	MAGBG_HUMAN	161	H	R	Polymorphism	-
A2A368	MAGBG_HUMAN	128	C	Y	Polymorphism	-
A2A3K4	PTPC1_HUMAN	571	L	Q	Polymorphism	-
A2A3L6	TTC24_HUMAN	532	P	A	Polymorphism	-
A2A3L6	TTC24_HUMAN	231	E	G	Polymorphism	-
A2A3L6	TTC24_HUMAN	550	N	S	Polymorphism	-
A2CJ06	DYTN_HUMAN	241	Y	C	Polymorphism	-
A2CJ06	DYTN_HUMAN	474	Q	K	Polymorphism	-
A2IDD5	CCD78_HUMAN	252	W	R	Polymorphism	-
A2PYH4	HFM1_HUMAN	939	I	V	Polymorphism	-
A2PYH4	HFM1_HUMAN	884	I	S	Disease	Premature ovarian failure 9 (POF9) [MIM:615724]
A2PYH4	HFM1_HUMAN	736	G	S	Disease	Premature ovarian failure 9 (POF9) [MIM:615724]
A2PYH4	HFM1_HUMAN	115	S	P	Polymorphism	-
A2PYH4	HFM1_HUMAN	117	I	V	Polymorphism	-
A2RRH5	WDR27_HUMAN	133	L	P	Polymorphism	-
A2RRH5	WDR27_HUMAN	470	P	L	Polymorphism	-
A2RRH5	WDR27_HUMAN	437	R	H	Polymorphism	-
A2RRH5	WDR27_HUMAN	697	A	V	Polymorphism	-
A2RRH5	WDR27_HUMAN	393	V	L	Polymorphism	-
A2RRP1	NBAS_HUMAN	396	W	R	Disease	-
A2RRP1	NBAS_HUMAN	949	V	L	Polymorphism	-
A2RRP1	NBAS_HUMAN	1055	L	P	Disease	Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
A2RRP1	NBAS_HUMAN	655	K	R	Polymorphism	-
A2RRP1	NBAS_HUMAN	243	I	V	Polymorphism	-
A2RRP1	NBAS_HUMAN	1004	R	Q	Polymorphism	-
A2RRP1	NBAS_HUMAN	1178	S	N	Polymorphism	-
A2RRP1	NBAS_HUMAN	903	L	R	Disease	Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
A2RRP1	NBAS_HUMAN	1009	C	S	Polymorphism	-
A2RRP1	NBAS_HUMAN	777	P	H	Disease	Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
A2RRP1	NBAS_HUMAN	842	V	F	Disease	Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
A2RRP1	NBAS_HUMAN	348	P	S	Disease	Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
A2RRP1	NBAS_HUMAN	137	R	W	Disease	-
A2RRP1	NBAS_HUMAN	984	I	S	Disease	Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]
A2RRP1	NBAS_HUMAN	2074	A	T	Polymorphism	-
A2RRP1	NBAS_HUMAN	95	A	V	Disease	-
A2RRP1	NBAS_HUMAN	44	Q	E	Polymorphism	-
A2RRP1	NBAS_HUMAN	1914	R	H	Disease	Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) [MIM:614800]
A2RTY3	HEAT9_HUMAN	480	S	F	Polymorphism	-
A2RTY3	HEAT9_HUMAN	330	I	M	Unclassified	A breast cancer sample
A2RU30	TESP1_HUMAN	496	E	K	Polymorphism	-
A2RU48	SMCO3_HUMAN	49	C	R	Polymorphism	-
A2RU48	SMCO3_HUMAN	75	K	R	Polymorphism	-
A2RUB1	MEIOC_HUMAN	311	M	L	Polymorphism	-
A2RUB1	MEIOC_HUMAN	320	N	T	Polymorphism	-
A2RUB6	CCD66_HUMAN	592	E	Q	Polymorphism	-
A2RUB6	CCD66_HUMAN	592	E	K	Polymorphism	-
A2RUB6	CCD66_HUMAN	383	Q	R	Polymorphism	-
A2RUB6	CCD66_HUMAN	460	R	Q	Polymorphism	-
A2RUB6	CCD66_HUMAN	681	C	Y	Polymorphism	-
A2RUC4	TYW5_HUMAN	50	S	G	Polymorphism	-
A2RUH7	MBPHL_HUMAN	269	D	N	Polymorphism	-
A2RUQ5	CQ102_HUMAN	98	G	R	Polymorphism	-
A2RUQ5	CQ102_HUMAN	155	R	K	Polymorphism	-
A2RUS2	DEND3_HUMAN	364	Q	R	Polymorphism	-
A2RUS2	DEND3_HUMAN	143	S	N	Polymorphism	-
A2RUT3	TMM89_HUMAN	61	P	T	Polymorphism	-
A2RUU4	COLL1_HUMAN	15	F	S	Polymorphism	-
A2VDJ0	T131L_HUMAN	1254	N	S	Polymorphism	-
A2VDJ0	T131L_HUMAN	604	I	V	Polymorphism	-
A2VDJ0	T131L_HUMAN	1110	S	Y	Polymorphism	-
A2VDJ0	T131L_HUMAN	1392	A	P	Polymorphism	-
A2VDJ0	T131L_HUMAN	645	M	T	Polymorphism	-
A2VEC9	SSPO_HUMAN	3894	C	W	Polymorphism	-
A2VEC9	SSPO_HUMAN	1454	P	R	Polymorphism	-
A2VEC9	SSPO_HUMAN	3513	N	S	Polymorphism	-
A2VEC9	SSPO_HUMAN	4790	H	R	Polymorphism	-
A2VEC9	SSPO_HUMAN	1779	S	P	Polymorphism	-
A2VEC9	SSPO_HUMAN	4332	R	C	Polymorphism	-
A2VEC9	SSPO_HUMAN	1002	R	W	Unclassified	-
A2VEC9	SSPO_HUMAN	4166	H	R	Polymorphism	-
A2VEC9	SSPO_HUMAN	4944	E	K	Polymorphism	-
A2VEC9	SSPO_HUMAN	1273	S	P	Polymorphism	-
A2VEC9	SSPO_HUMAN	2018	T	M	Polymorphism	-
A2VEC9	SSPO_HUMAN	540	V	M	Polymorphism	-
A2VEC9	SSPO_HUMAN	2453	M	T	Polymorphism	-
A2VEC9	SSPO_HUMAN	4109	Q	H	Polymorphism	-
A2VEC9	SSPO_HUMAN	2799	R	C	Unclassified	-
A2VEC9	SSPO_HUMAN	2892	L	V	Polymorphism	-
A2VEC9	SSPO_HUMAN	1274	L	P	Polymorphism	-
A2VEC9	SSPO_HUMAN	2542	R	Q	Polymorphism	-
A2VEC9	SSPO_HUMAN	1883	R	C	Polymorphism	-
A2VEC9	SSPO_HUMAN	3274	R	W	Polymorphism	-
A2VEC9	SSPO_HUMAN	3911	R	C	Polymorphism	-
A2VEC9	SSPO_HUMAN	1425	S	G	Polymorphism	-
A2VEC9	SSPO_HUMAN	146	Q	R	Polymorphism	-
A2VEC9	SSPO_HUMAN	1794	L	P	Polymorphism	-
A2VEC9	SSPO_HUMAN	298	V	M	Polymorphism	-
A2VEC9	SSPO_HUMAN	1449	P	Q	Polymorphism	-
A2VEC9	SSPO_HUMAN	4030	S	I	Polymorphism	-
A3KFT3	OR2M5_HUMAN	244	H	N	Unclassified	-
A3KMH1	VWA8_HUMAN	165	R	H	Polymorphism	-
A3KMH1	VWA8_HUMAN	898	R	K	Polymorphism	-
A3KMH1	VWA8_HUMAN	660	R	G	Polymorphism	-
A3KMH1	VWA8_HUMAN	408	G	R	Polymorphism	-
A3KMH1	VWA8_HUMAN	1300	E	K	Polymorphism	-
A3KMH1	VWA8_HUMAN	383	M	T	Polymorphism	-
A3KN83	SBNO1_HUMAN	997	S	C	Unclassified	A breast cancer sample
A3KN83	SBNO1_HUMAN	634	T	S	Unclassified	A breast cancer sample
A3KN83	SBNO1_HUMAN	729	S	N	Polymorphism	-
A3KN83	SBNO1_HUMAN	728	S	N	Polymorphism	-
A3KN83	SBNO1_HUMAN	889	E	K	Unclassified	A breast cancer sample
A4D0S4	LAMB4_HUMAN	1028	G	C	Polymorphism	-
A4D0S4	LAMB4_HUMAN	866	N	S	Polymorphism	-
A4D0S4	LAMB4_HUMAN	1350	T	N	Polymorphism	-
A4D0S4	LAMB4_HUMAN	1612	R	S	Polymorphism	-
A4D0S4	LAMB4_HUMAN	234	H	Y	Polymorphism	-
A4D0S4	LAMB4_HUMAN	1510	H	Y	Polymorphism	-
A4D0S4	LAMB4_HUMAN	591	V	F	Polymorphism	-
A4D0S4	LAMB4_HUMAN	44	M	T	Polymorphism	-
A4D0V7	CPED1_HUMAN	326	I	T	Polymorphism	-
A4D0V7	CPED1_HUMAN	708	E	G	Polymorphism	-
A4D0V7	CPED1_HUMAN	949	K	T	Polymorphism	-
A4D0V7	CPED1_HUMAN	551	A	G	Polymorphism	-
A4D126	ISPD_HUMAN	226	Y	H	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
A4D126	ISPD_HUMAN	216	A	D	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
A4D126	ISPD_HUMAN	213	M	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
A4D126	ISPD_HUMAN	126	R	H	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
A4D126	ISPD_HUMAN	238	T	I	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
A4D126	ISPD_HUMAN	53	A	T	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052]
A4D126	ISPD_HUMAN	54	G	A	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052]
A4D126	ISPD_HUMAN	149	P	L	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052]
A4D126	ISPD_HUMAN	205	R	H	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
A4D126	ISPD_HUMAN	122	A	P	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
A4D126	ISPD_HUMAN	226	Y	C	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052]
A4D126	ISPD_HUMAN	156	D	N	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]
A4D161	F221A_HUMAN	128	H	R	Polymorphism	-
A4D161	F221A_HUMAN	95	C	R	Polymorphism	-
A4D161	F221A_HUMAN	20	Y	H	Polymorphism	-
A4D161	F221A_HUMAN	90	A	T	Polymorphism	-
A4D161	F221A_HUMAN	240	S	G	Polymorphism	-
A4D1B5	GSAP_HUMAN	305	G	E	Polymorphism	-
A4D1B5	GSAP_HUMAN	653	W	L	Polymorphism	-
A4D1B5	GSAP_HUMAN	47	H	R	Polymorphism	-
A4D1B5	GSAP_HUMAN	649	V	I	Polymorphism	-
A4D1E1	Z804B_HUMAN	909	E	K	Polymorphism	-
A4D1E1	Z804B_HUMAN	634	F	I	Polymorphism	-
A4D1E1	Z804B_HUMAN	915	T	I	Polymorphism	-
A4D1E1	Z804B_HUMAN	914	N	H	Polymorphism	-
A4D1E1	Z804B_HUMAN	248	C	Y	Polymorphism	-
A4D1E1	Z804B_HUMAN	1195	V	I	Polymorphism	-
A4D1E1	Z804B_HUMAN	1105	M	V	Polymorphism	-
A4D1E9	GTPBA_HUMAN	110	N	S	Polymorphism	-
A4D1E9	GTPBA_HUMAN	88	C	W	Polymorphism	-
A4D1E9	GTPBA_HUMAN	164	L	F	Polymorphism	-
A4D1E9	GTPBA_HUMAN	368	M	I	Polymorphism	-
A4D1P6	WDR91_HUMAN	257	P	L	Polymorphism	-
A4D1S0	KLRG2_HUMAN	339	G	A	Polymorphism	-
A4D1S0	KLRG2_HUMAN	152	K	T	Polymorphism	-
A4D1T9	PRS37_HUMAN	119	T	P	Polymorphism	-
A4D256	CC14C_HUMAN	189	I	L	Polymorphism	-
A4D256	CC14C_HUMAN	131	P	S	Polymorphism	-
A4D2B0	MBLC1_HUMAN	114	H	N	Polymorphism	-
A4D2B0	MBLC1_HUMAN	79	P	H	Polymorphism	-
A4D2G3	O2A25_HUMAN	75	S	N	Polymorphism	-
A4D2G3	O2A25_HUMAN	209	A	P	Polymorphism	-
A4D2P6	GRD2I_HUMAN	20	R	Q	Polymorphism	-
A4FU01	MTMRB_HUMAN	159	M	V	Polymorphism	-
A4FU01	MTMRB_HUMAN	531	Q	P	Polymorphism	-
A4FU49	SH321_HUMAN	217	S	A	Polymorphism	-
A4FU49	SH321_HUMAN	455	A	S	Polymorphism	-
A4FU69	EFCB5_HUMAN	561	R	S	Polymorphism	-
A4FU69	EFCB5_HUMAN	1252	V	A	Polymorphism	-
A4FU69	EFCB5_HUMAN	1274	R	T	Polymorphism	-
A4FU69	EFCB5_HUMAN	278	I	K	Polymorphism	-
A4FU69	EFCB5_HUMAN	1145	A	D	Polymorphism	-
A4FU69	EFCB5_HUMAN	237	L	V	Polymorphism	-
A4QMS7	CE049_HUMAN	68	Q	H	Polymorphism	-
A4QMS7	CE049_HUMAN	87	E	K	Polymorphism	-
A4QMS7	CE049_HUMAN	139	P	S	Polymorphism	-
A4QPB2	LRP5L_HUMAN	61	T	M	Polymorphism	-
A4QPH2	PI4P2_HUMAN	223	E	Q	Polymorphism	-
A4UGR9	XIRP2_HUMAN	2423	L	R	Polymorphism	-
A4UGR9	XIRP2_HUMAN	1488	I	T	Polymorphism	-
A4UGR9	XIRP2_HUMAN	3022	I	V	Polymorphism	-
A4UGR9	XIRP2_HUMAN	2769	I	V	Polymorphism	-
A4UGR9	XIRP2_HUMAN	450	P	A	Polymorphism	-
A4UGR9	XIRP2_HUMAN	2595	H	Y	Polymorphism	-
A4UGR9	XIRP2_HUMAN	2975	Y	C	Polymorphism	-
A4UGR9	XIRP2_HUMAN	2910	A	T	Polymorphism	-
A4UGR9	XIRP2_HUMAN	1833	N	S	Polymorphism	-
A4UGR9	XIRP2_HUMAN	2607	V	I	Polymorphism	-
A4UGR9	XIRP2_HUMAN	3202	G	E	Polymorphism	-
A4UGR9	XIRP2_HUMAN	1397	I	T	Polymorphism	-
A4UGR9	XIRP2_HUMAN	457	Y	H	Polymorphism	-
A4UGR9	XIRP2_HUMAN	1626	R	H	Polymorphism	-
A4UGR9	XIRP2_HUMAN	2553	S	N	Polymorphism	-
A4UGR9	XIRP2_HUMAN	2728	G	D	Polymorphism	-
A5D8T8	CL18A_HUMAN	339	S	R	Polymorphism	-
A5D8T8	CL18A_HUMAN	118	V	A	Polymorphism	-
A5D8T8	CL18A_HUMAN	151	T	M	Polymorphism	-
A5D8V6	VP37C_HUMAN	198	L	S	Polymorphism	-
A5D8V6	VP37C_HUMAN	182	V	D	Polymorphism	-
A5D8V7	CC151_HUMAN	545	R	P	Polymorphism	-
A5D8W1	CFA69_HUMAN	22	S	R	Polymorphism	-
A5D8W1	CFA69_HUMAN	306	R	C	Polymorphism	-
A5D8W1	CFA69_HUMAN	490	V	M	Polymorphism	-
A5D8W1	CFA69_HUMAN	885	T	M	Polymorphism	-
A5D8W1	CFA69_HUMAN	459	P	L	Polymorphism	-
A5LHX3	PSB11_HUMAN	49	G	S	Polymorphism	-
A5PL33	KRBA1_HUMAN	320	H	R	Polymorphism	-
A5PL33	KRBA1_HUMAN	661	D	E	Polymorphism	-
A5PLK6	RGSL_HUMAN	256	W	C	Polymorphism	-
A5PLK6	RGSL_HUMAN	5	E	D	Polymorphism	-
A5PLL1	AN34B_HUMAN	156	L	S	Polymorphism	-
A5PLL7	TM189_HUMAN	7	W	G	Polymorphism	-
A5PLN7	F149A_HUMAN	332	K	E	Polymorphism	-
A5PLN7	F149A_HUMAN	437	K	E	Polymorphism	-
A5PLN7	F149A_HUMAN	722	R	W	Polymorphism	-
A5PLN7	F149A_HUMAN	532	P	L	Polymorphism	-
A5PLN7	F149A_HUMAN	748	L	V	Polymorphism	-
A5PLN7	F149A_HUMAN	505	H	R	Polymorphism	-
A5X5Y0	5HT3E_HUMAN	430	A	T	Polymorphism	-
A5X5Y0	5HT3E_HUMAN	71	A	T	Polymorphism	-
A5YKK6	CNOT1_HUMAN	603	D	A	Polymorphism	-
A5YM72	CRNS1_HUMAN	14	P	T	Polymorphism	-
A5YM72	CRNS1_HUMAN	498	M	L	Polymorphism	-
A6BM72	MEG11_HUMAN	242	H	R	Polymorphism	-
A6BM72	MEG11_HUMAN	317	H	R	Polymorphism	-
A6BM72	MEG11_HUMAN	988	I	T	Polymorphism	-
A6BM72	MEG11_HUMAN	95	S	N	Polymorphism	-
A6BM72	MEG11_HUMAN	474	L	P	Polymorphism	-
A6BM72	MEG11_HUMAN	861	L	F	Polymorphism	-
A6H8M9	CDHR4_HUMAN	5	R	K	Polymorphism	-
A6H8Y1	BDP1_HUMAN	722	K	E	Polymorphism	-
A6H8Y1	BDP1_HUMAN	38	D	E	Polymorphism	-
A6H8Y1	BDP1_HUMAN	1469	K	E	Polymorphism	-
A6H8Y1	BDP1_HUMAN	757	R	C	Polymorphism	-
A6H8Y1	BDP1_HUMAN	2555	N	S	Polymorphism	-
A6H8Y1	BDP1_HUMAN	1264	I	M	Polymorphism	-
A6H8Y1	BDP1_HUMAN	26	N	S	Polymorphism	-
A6H8Y1	BDP1_HUMAN	2013	I	L	Polymorphism	-
A6H8Y1	BDP1_HUMAN	1180	G	S	Polymorphism	-
A6H8Y1	BDP1_HUMAN	1244	F	I	Polymorphism	-
A6H8Y1	BDP1_HUMAN	1347	V	M	Polymorphism	-
A6H8Y1	BDP1_HUMAN	125	A	V	Polymorphism	-
A6H8Y1	BDP1_HUMAN	778	V	M	Polymorphism	-
A6H8Y1	BDP1_HUMAN	1676	Q	E	Polymorphism	-
A6H8Z2	F221B_HUMAN	34	H	R	Polymorphism	-
A6H8Z2	F221B_HUMAN	41	K	E	Polymorphism	-
A6NC51	T150B_HUMAN	199	L	F	Polymorphism	-
A6NC57	ANR62_HUMAN	406	E	K	Polymorphism	-
A6NC57	ANR62_HUMAN	188	A	S	Polymorphism	-
A6NC57	ANR62_HUMAN	265	C	R	Polymorphism	-
A6NC57	ANR62_HUMAN	613	A	T	Polymorphism	-
A6NC98	CC88B_HUMAN	886	D	A	Polymorphism	-
A6NC98	CC88B_HUMAN	193	D	E	Polymorphism	-
A6NC98	CC88B_HUMAN	639	W	R	Polymorphism	-
A6NCF5	KLH33_HUMAN	516	A	T	Polymorphism	-
A6NCF5	KLH33_HUMAN	163	R	H	Polymorphism	-
A6NCF5	KLH33_HUMAN	176	R	Q	Polymorphism	-
A6NCF5	KLH33_HUMAN	345	E	G	Polymorphism	-
A6NCI4	VWA3A_HUMAN	464	T	I	Polymorphism	-
A6NCI4	VWA3A_HUMAN	657	T	I	Polymorphism	-
A6NCI4	VWA3A_HUMAN	1165	Q	P	Polymorphism	-
A6NCJ1	CS071_HUMAN	137	A	V	Polymorphism	-
A6NCJ1	CS071_HUMAN	83	P	L	Polymorphism	-
A6NCS4	NKX26_HUMAN	176	V	A	Disease	Conotruncal heart malformations (CTHM) [MIM:217095]
A6NCS4	NKX26_HUMAN	151	F	L	Disease	Conotruncal heart malformations (CTHM) [MIM:217095]
A6NCS4	NKX26_HUMAN	152	K	Q	Disease	Conotruncal heart malformations (CTHM) [MIM:217095]
A6NCV1	O6C74_HUMAN	61	L	F	Polymorphism	-
A6NCV1	O6C74_HUMAN	86	G	D	Polymorphism	-
A6NCV1	O6C74_HUMAN	75	Y	C	Polymorphism	-
A6NCV1	O6C74_HUMAN	2	R	G	Polymorphism	-
A6NCV1	O6C74_HUMAN	120	R	C	Polymorphism	-
A6ND36	FA83G_HUMAN	109	I	T	Polymorphism	-
A6ND36	FA83G_HUMAN	630	R	W	Unclassified	-
A6ND36	FA83G_HUMAN	64	L	F	Unclassified	-
A6ND48	O14I1_HUMAN	170	S	N	Polymorphism	-
A6ND48	O14I1_HUMAN	84	L	M	Polymorphism	-
A6ND48	O14I1_HUMAN	216	Y	C	Polymorphism	-
A6ND48	O14I1_HUMAN	50	D	N	Polymorphism	-
A6ND48	O14I1_HUMAN	36	V	A	Polymorphism	-
A6ND91	ASPD_HUMAN	266	Q	R	Polymorphism	-
A6NDA9	LRIT2_HUMAN	28	C	Y	Polymorphism	-
A6NDA9	LRIT2_HUMAN	510	T	P	Polymorphism	-
A6NDA9	LRIT2_HUMAN	179	K	N	Polymorphism	-
A6NDA9	LRIT2_HUMAN	220	L	F	Polymorphism	-
A6NDA9	LRIT2_HUMAN	496	V	A	Polymorphism	-
A6NDB9	PALM3_HUMAN	440	A	T	Polymorphism	-
A6NDH6	O5H15_HUMAN	148	S	T	Polymorphism	-
A6NDH6	O5H15_HUMAN	167	T	S	Polymorphism	-
A6NDH6	O5H15_HUMAN	108	V	I	Polymorphism	-
A6NDI0	TR49B_HUMAN	398	L	M	Polymorphism	-
A6NDN3	GOG6B_HUMAN	200	R	W	Polymorphism	-
A6NDU8	CE051_HUMAN	20	Q	H	Polymorphism	-
A6NDX5	ZN840_HUMAN	181	Y	C	Polymorphism	-
A6NE01	F186A_HUMAN	187	K	Q	Polymorphism	-
A6NE01	F186A_HUMAN	1204	R	G	Polymorphism	-
A6NE01	F186A_HUMAN	2228	H	Q	Polymorphism	-
A6NE01	F186A_HUMAN	2316	Q	E	Polymorphism	-
A6NE01	F186A_HUMAN	2166	H	Y	Polymorphism	-
A6NE01	F186A_HUMAN	2193	M	I	Polymorphism	-
A6NE01	F186A_HUMAN	1233	L	P	Polymorphism	-
A6NE52	WDR97_HUMAN	427	H	Q	Polymorphism	-
A6NE52	WDR97_HUMAN	537	E	G	Polymorphism	-
A6NE52	WDR97_HUMAN	149	R	G	Polymorphism	-
A6NED2	RCCD1_HUMAN	8	A	S	Polymorphism	-
A6NEL2	SWAHB_HUMAN	152	D	G	Polymorphism	-
A6NEL2	SWAHB_HUMAN	377	P	T	Polymorphism	-
A6NEN9	CX065_HUMAN	156	R	H	Polymorphism	-
A6NEQ2	F181B_HUMAN	186	V	L	Polymorphism	-
A6NEQ2	F181B_HUMAN	367	R	P	Polymorphism	-
A6NER3	GG12J_HUMAN	9	Y	C	Polymorphism	-
A6NER3	GG12J_HUMAN	16	P	R	Polymorphism	-
A6NER3	GG12J_HUMAN	28	R	Q	Polymorphism	-
A6NER3	GG12J_HUMAN	13	R	S	Polymorphism	-
A6NES4	MRO2A_HUMAN	1569	V	I	Polymorphism	-
A6NES4	MRO2A_HUMAN	329	E	G	Polymorphism	-
A6NES4	MRO2A_HUMAN	1410	A	T	Polymorphism	-
A6NES4	MRO2A_HUMAN	1184	V	M	Polymorphism	-
A6NES4	MRO2A_HUMAN	1562	A	T	Polymorphism	-
A6NES4	MRO2A_HUMAN	11	A	D	Polymorphism	-
A6NES4	MRO2A_HUMAN	1643	P	L	Polymorphism	-
A6NES4	MRO2A_HUMAN	489	K	N	Polymorphism	-
A6NES4	MRO2A_HUMAN	1041	Q	E	Polymorphism	-
A6NES4	MRO2A_HUMAN	1537	M	V	Polymorphism	-
A6NES4	MRO2A_HUMAN	271	Y	H	Polymorphism	-
A6NES4	MRO2A_HUMAN	1141	R	C	Polymorphism	-
A6NES4	MRO2A_HUMAN	1546	F	L	Polymorphism	-
A6NES4	MRO2A_HUMAN	1107	F	S	Polymorphism	-
A6NES4	MRO2A_HUMAN	1075	S	T	Polymorphism	-
A6NES4	MRO2A_HUMAN	1454	T	A	Polymorphism	-
A6NES4	MRO2A_HUMAN	978	W	R	Polymorphism	-
A6NET4	OR5K3_HUMAN	44	G	D	Polymorphism	-
A6NF34	ANTRL_HUMAN	550	P	R	Polymorphism	-
A6NF89	OR6C6_HUMAN	190	T	I	Polymorphism	-
A6NFD8	HELT_HUMAN	62	L	V	Polymorphism	-
A6NFK2	GRCR2_HUMAN	181	L	F	Polymorphism	-
A6NFN9	ANKUB_HUMAN	217	R	W	Polymorphism	-
A6NFN9	ANKUB_HUMAN	386	S	G	Polymorphism	-
A6NFN9	ANKUB_HUMAN	306	I	M	Polymorphism	-
A6NFR6	CE060_HUMAN	56	L	P	Polymorphism	-
A6NFR6	CE060_HUMAN	55	R	C	Polymorphism	-
A6NFU8	PGPIL_HUMAN	142	A	V	Polymorphism	-
A6NFU8	PGPIL_HUMAN	169	E	Q	Polymorphism	-
A6NFY7	SDHF1_HUMAN	55	R	P	Disease	Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]
A6NFY7	SDHF1_HUMAN	57	G	R	Disease	Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]
A6NGA9	TM202_HUMAN	204	M	L	Polymorphism	-
A6NGB9	WIPF3_HUMAN	321	E	G	Polymorphism	-
A6NGD5	ZSA5C_HUMAN	181	Q	R	Polymorphism	-
A6NGD5	ZSA5C_HUMAN	259	Q	K	Polymorphism	-
A6NGD5	ZSA5C_HUMAN	197	E	D	Polymorphism	-
A6NGD5	ZSA5C_HUMAN	24	Q	R	Polymorphism	-
A6NGE4	DC8L1_HUMAN	549	R	W	Polymorphism	-
A6NGE7	URAD_HUMAN	57	Q	P	Polymorphism	-
A6NGG8	PCARE_HUMAN	201	I	F	Disease	Retinitis pigmentosa 54 (RP54) [MIM:613428]
A6NGG8	PCARE_HUMAN	13	S	C	Polymorphism	-
A6NGG8	PCARE_HUMAN	792	L	V	Polymorphism	-
A6NGG8	PCARE_HUMAN	628	A	T	Polymorphism	-
A6NGG8	PCARE_HUMAN	867	P	L	Polymorphism	-
A6NGG8	PCARE_HUMAN	580	T	M	Polymorphism	-
A6NGG8	PCARE_HUMAN	421	K	R	Polymorphism	-
A6NGG8	PCARE_HUMAN	648	A	P	Polymorphism	-
A6NGG8	PCARE_HUMAN	954	P	S	Polymorphism	-
A6NGG8	PCARE_HUMAN	378	E	K	Polymorphism	-
A6NGG8	PCARE_HUMAN	372	D	N	Disease	Retinitis pigmentosa 54 (RP54) [MIM:613428]
A6NGG8	PCARE_HUMAN	955	R	Q	Polymorphism	-
A6NGG8	PCARE_HUMAN	1177	R	Q	Polymorphism	-
A6NGG8	PCARE_HUMAN	612	L	P	Disease	Retinitis pigmentosa 54 (RP54) [MIM:613428]
A6NGG8	PCARE_HUMAN	688	C	Y	Polymorphism	-
A6NGG8	PCARE_HUMAN	247	V	A	Polymorphism	-
A6NGG8	PCARE_HUMAN	320	R	C	Polymorphism	-
A6NGG8	PCARE_HUMAN	959	A	T	Polymorphism	-
A6NGG8	PCARE_HUMAN	312	S	N	Polymorphism	-
A6NGG8	PCARE_HUMAN	1176	Q	R	Unclassified	-
A6NGG8	PCARE_HUMAN	1254	P	L	Polymorphism	-
A6NGG8	PCARE_HUMAN	227	E	K	Polymorphism	-
A6NGG8	PCARE_HUMAN	1160	A	T	Polymorphism	-
A6NGG8	PCARE_HUMAN	1247	G	S	Polymorphism	-
A6NGG8	PCARE_HUMAN	615	V	D	Disease	Retinitis pigmentosa 54 (RP54) [MIM:613428]
A6NGG8	PCARE_HUMAN	1020	Q	R	Polymorphism	-
A6NGG8	PCARE_HUMAN	252	A	D	Polymorphism	-
A6NGG8	PCARE_HUMAN	258	R	I	Polymorphism	-
A6NGQ2	OOEP_HUMAN	92	V	A	Polymorphism	-
A6NGQ2	OOEP_HUMAN	18	A	T	Polymorphism	-
A6NGR9	MROH6_HUMAN	134	T	I	Polymorphism	-
A6NGR9	MROH6_HUMAN	619	A	T	Polymorphism	-
A6NGR9	MROH6_HUMAN	97	H	Q	Polymorphism	-
A6NGR9	MROH6_HUMAN	132	V	A	Polymorphism	-
A6NGY1	FRG2C_HUMAN	210	L	M	Polymorphism	-
A6NGY1	FRG2C_HUMAN	12	C	R	Polymorphism	-
A6NGY5	O51F1_HUMAN	73	F	S	Polymorphism	-
A6NGY5	O51F1_HUMAN	233	S	F	Polymorphism	-
A6NGY5	O51F1_HUMAN	258	A	V	Polymorphism	-
A6NGY5	O51F1_HUMAN	74	R	M	Polymorphism	-
A6NGY5	O51F1_HUMAN	232	H	R	Polymorphism	-
A6NGY5	O51F1_HUMAN	20	T	A	Polymorphism	-
A6NGY5	O51F1_HUMAN	301	D	Y	Polymorphism	-
A6NGY5	O51F1_HUMAN	202	R	Q	Polymorphism	-
A6NH00	OR2T8_HUMAN	305	R	W	Polymorphism	-
A6NH00	OR2T8_HUMAN	179	T	A	Polymorphism	-
A6NH00	OR2T8_HUMAN	197	M	R	Polymorphism	-
A6NH00	OR2T8_HUMAN	49	W	R	Polymorphism	-
A6NH00	OR2T8_HUMAN	69	V	M	Polymorphism	-
A6NH00	OR2T8_HUMAN	221	A	S	Polymorphism	-
A6NH00	OR2T8_HUMAN	39	G	S	Polymorphism	-
A6NH00	OR2T8_HUMAN	311	R	H	Polymorphism	-
A6NHA9	O4C46_HUMAN	252	C	Y	Polymorphism	-
A6NHA9	O4C46_HUMAN	240	S	F	Polymorphism	-
A6NHA9	O4C46_HUMAN	288	K	R	Polymorphism	-
A6NHG9	O5H14_HUMAN	189	Y	C	Polymorphism	-
A6NHG9	O5H14_HUMAN	64	G	R	Polymorphism	-
A6NHL2	TBAL3_HUMAN	135	Q	H	Polymorphism	-
A6NHL2	TBAL3_HUMAN	250	R	W	Polymorphism	-
A6NHN0	OTOL1_HUMAN	470	E	A	Polymorphism	-
A6NHR9	SMHD1_HUMAN	425	G	R	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	139	N	H	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	136	E	G	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	518	K	E	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	527	T	M	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	552	R	Q	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	141	L	F	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	524	N	S	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	716	G	S	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	137	G	E	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	171	F	V	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	960	I	V	Polymorphism	-
A6NHR9	SMHD1_HUMAN	1449	R	K	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	194	L	F	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	400	Q	L	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	879	K	N	Polymorphism	-
A6NHR9	SMHD1_HUMAN	420	D	V	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	137	G	E	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	473	E	Q	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	708	V	I	Polymorphism	-
A6NHR9	SMHD1_HUMAN	479	R	P	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	107	L	P	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	748	L	P	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	135	S	N	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	690	P	S	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	134	A	S	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	135	S	I	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	849	D	N	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	263	H	D	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	348	H	R	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	478	G	E	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	353	Y	C	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	523	T	K	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	1463	Q	P	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	1554	F	S	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	129	M	K	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	242	A	G	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	342	W	S	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	615	V	D	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	1468	M	I	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	136	E	D	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	492	C	R	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	345	Q	R	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	868	S	N	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	283	Y	C	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	135	S	C	Disease	Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457]
A6NHR9	SMHD1_HUMAN	1485	P	L	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NHR9	SMHD1_HUMAN	110	A	T	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
A6NI15	MSGN1_HUMAN	104	H	Y	Polymorphism	-
A6NI15	MSGN1_HUMAN	80	E	D	Polymorphism	-
A6NI61	MYMK_HUMAN	154	I	T	Disease	Carey-Fineman-Ziter syndrome (CFZS) [MIM:254940]
A6NI61	MYMK_HUMAN	185	C	R	Disease	Carey-Fineman-Ziter syndrome (CFZS) [MIM:254940]
A6NI61	MYMK_HUMAN	79	W	R	Unclassified	Carey-Fineman-Ziter syndrome (CFZS) [MIM:254940]
A6NI61	MYMK_HUMAN	91	P	T	Unclassified	Carey-Fineman-Ziter syndrome (CFZS) [MIM:254940]
A6NI61	MYMK_HUMAN	100	G	S	Disease	Carey-Fineman-Ziter syndrome (CFZS) [MIM:254940]
A6NI79	CCD69_HUMAN	197	R	K	Polymorphism	-
A6NIJ9	O6C70_HUMAN	181	L	P	Polymorphism	-
A6NIJ9	O6C70_HUMAN	233	K	N	Polymorphism	-
A6NIM6	S15A5_HUMAN	141	H	Q	Polymorphism	-
A6NIM6	S15A5_HUMAN	494	D	E	Polymorphism	-
A6NIM6	S15A5_HUMAN	271	P	L	Polymorphism	-
A6NIM6	S15A5_HUMAN	508	E	K	Polymorphism	-
A6NIV6	LRIQ4_HUMAN	159	K	E	Polymorphism	-
A6NJ78	MET15_HUMAN	31	N	K	Polymorphism	-
A6NJ78	MET15_HUMAN	149	A	T	Polymorphism	-
A6NJ78	MET15_HUMAN	267	I	F	Polymorphism	-
A6NJG2	SWAHD_HUMAN	254	T	A	Polymorphism	-
A6NJG6	ARGFX_HUMAN	145	R	Q	Polymorphism	-
A6NJL1	ZSA5B_HUMAN	236	S	T	Polymorphism	-
A6NJL1	ZSA5B_HUMAN	208	V	I	Polymorphism	-
A6NJL1	ZSA5B_HUMAN	304	S	T	Polymorphism	-
A6NJL1	ZSA5B_HUMAN	412	M	L	Polymorphism	-
A6NJL1	ZSA5B_HUMAN	187	P	S	Polymorphism	-
A6NJV1	CB070_HUMAN	177	Q	L	Polymorphism	-
A6NJV1	CB070_HUMAN	66	Q	H	Polymorphism	-
A6NJZ3	O6C65_HUMAN	222	T	A	Polymorphism	-
A6NJZ3	O6C65_HUMAN	13	L	Q	Polymorphism	-
A6NK53	ZN233_HUMAN	247	S	P	Polymorphism	-
A6NK53	ZN233_HUMAN	531	K	T	Polymorphism	-
A6NK58	LIPT2_HUMAN	105	L	R	Disease	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (NELABA) [MIM:617668]
A6NK58	LIPT2_HUMAN	30	L	P	Disease	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (NELABA) [MIM:617668]
A6NK58	LIPT2_HUMAN	126	L	R	Disease	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (NELABA) [MIM:617668]
A6NK89	RASFA_HUMAN	194	Q	H	Polymorphism	-
A6NK97	S22AK_HUMAN	139	A	V	Polymorphism	-
A6NK97	S22AK_HUMAN	58	A	D	Polymorphism	-
A6NKB5	PCX2_HUMAN	117	R	K	Polymorphism	-
A6NKB5	PCX2_HUMAN	1901	S	N	Polymorphism	-
A6NKB5	PCX2_HUMAN	454	T	A	Polymorphism	-
A6NKB5	PCX2_HUMAN	1984	R	Q	Polymorphism	-
A6NKC9	SH2D7_HUMAN	137	M	T	Polymorphism	-
A6NKC9	SH2D7_HUMAN	206	R	W	Polymorphism	-
A6NKF1	SAC31_HUMAN	186	L	P	Polymorphism	-
A6NKF1	SAC31_HUMAN	8	T	P	Polymorphism	-
A6NKF1	SAC31_HUMAN	155	L	R	Polymorphism	-
A6NKF2	ARI3C_HUMAN	335	C	G	Polymorphism	-
A6NKF2	ARI3C_HUMAN	310	R	Q	Polymorphism	-
A6NKG5	RTL1_HUMAN	848	E	Q	Polymorphism	-
A6NKK0	OR5H1_HUMAN	153	I	L	Polymorphism	-
A6NKK0	OR5H1_HUMAN	148	S	T	Polymorphism	-
A6NKK0	OR5H1_HUMAN	181	T	I	Polymorphism	-
A6NKK0	OR5H1_HUMAN	230	S	T	Polymorphism	-
A6NKQ9	CGB1_HUMAN	185	P	S	Polymorphism	-
A6NKW6	SHL2B_HUMAN	5	S	R	Polymorphism	-
A6NKW6	SHL2B_HUMAN	111	A	P	Polymorphism	-
A6NL05	F74A7_HUMAN	12	D	Y	Polymorphism	-
A6NL05	F74A7_HUMAN	72	R	K	Polymorphism	-
A6NL05	F74A7_HUMAN	86	R	T	Polymorphism	-
A6NL08	O6C75_HUMAN	235	A	D	Polymorphism	-
A6NL08	O6C75_HUMAN	141	L	F	Polymorphism	-
A6NL26	OR5BL_HUMAN	272	S	Y	Polymorphism	-
A6NLE4	SIM23_HUMAN	36	T	M	Polymorphism	-
A6NLF2	ELB3D_HUMAN	375	P	L	Polymorphism	-
A6NLJ0	C2C4B_HUMAN	346	D	E	Polymorphism	-
A6NLJ0	C2C4B_HUMAN	276	F	V	Polymorphism	-
A6NLP5	TTC36_HUMAN	78	I	M	Polymorphism	-
A6NM03	O2AG2_HUMAN	299	R	G	Polymorphism	-
A6NM03	O2AG2_HUMAN	87	R	L	Polymorphism	-
A6NM03	O2AG2_HUMAN	54	R	P	Polymorphism	-
A6NM03	O2AG2_HUMAN	28	Y	C	Polymorphism	-
A6NM11	L37A2_HUMAN	1423	H	P	Polymorphism	-
A6NM11	L37A2_HUMAN	1141	F	L	Polymorphism	-
A6NM11	L37A2_HUMAN	1385	N	K	Polymorphism	-
A6NM11	L37A2_HUMAN	1281	I	T	Polymorphism	-
A6NM43	TCPQL_HUMAN	217	C	S	Polymorphism	-
A6NM43	TCPQL_HUMAN	308	D	N	Polymorphism	-
A6NM43	TCPQL_HUMAN	395	S	G	Polymorphism	-
A6NM45	CLD24_HUMAN	18	L	F	Polymorphism	-
A6NMB9	FIGL2_HUMAN	366	T	P	Polymorphism	-
A6NMN3	F170B_HUMAN	69	R	L	Polymorphism	-
A6NMS3	OR5K4_HUMAN	206	I	V	Polymorphism	-
A6NMU1	O52A4_HUMAN	87	D	G	Polymorphism	-
A6NMU1	O52A4_HUMAN	180	Y	S	Polymorphism	-
A6NMU1	O52A4_HUMAN	303	T	A	Polymorphism	-
A6NMU1	O52A4_HUMAN	277	C	R	Polymorphism	-
A6NMX2	I4E1B_HUMAN	227	D	Y	Polymorphism	-
A6NMZ7	CO6A6_HUMAN	461	E	A	Polymorphism	-
A6NMZ7	CO6A6_HUMAN	556	P	S	Polymorphism	-
A6NMZ7	CO6A6_HUMAN	370	A	T	Polymorphism	-
A6NMZ7	CO6A6_HUMAN	1799	H	R	Polymorphism	-
A6NMZ7	CO6A6_HUMAN	345	E	K	Polymorphism	-
A6NMZ7	CO6A6_HUMAN	1739	R	Q	Polymorphism	-
A6NNB3	IFM5_HUMAN	40	S	L	Disease	Osteogenesis imperfecta 5 (OI5) [MIM:610967]
A6NNB3	IFM5_HUMAN	27	G	A	Polymorphism	-
A6NNM8	TTL13_HUMAN	262	T	I	Polymorphism	-
A6NNM8	TTL13_HUMAN	126	A	T	Polymorphism	-
A6NNN8	S38A8_HUMAN	233	E	K	Disease	Foveal hypoplasia 2 (FVH2) [MIM:609218]
A6NNN8	S38A8_HUMAN	34	M	R	Disease	Foveal hypoplasia 2 (FVH2) [MIM:609218]
A6NNN8	S38A8_HUMAN	32	I	S	Disease	Foveal hypoplasia 2 (FVH2) [MIM:609218]
A6NNN8	S38A8_HUMAN	220	S	T	Polymorphism	-
A6NNN8	S38A8_HUMAN	236	V	D	Disease	Foveal hypoplasia 2 (FVH2) [MIM:609218]
A6NNN8	S38A8_HUMAN	412	G	R	Disease	Foveal hypoplasia 2 (FVH2) [MIM:609218]
A6NNP5	CC169_HUMAN	120	K	R	Polymorphism	-
A6NNS2	DRS7C_HUMAN	227	S	L	Polymorphism	-
A6NNY8	UBP27_HUMAN	381	Y	H	Disease	Mental retardation, X-linked 105 (MRX105) [MIM:300984]
A6PVC2	TTLL8_HUMAN	294	E	K	Polymorphism	-
A6PVC2	TTLL8_HUMAN	127	L	W	Polymorphism	-
A6PVC2	TTLL8_HUMAN	191	R	H	Polymorphism	-
A6PVS8	LRIQ3_HUMAN	434	E	K	Polymorphism	-
A6PVS8	LRIQ3_HUMAN	255	A	T	Polymorphism	-
A6PVS8	LRIQ3_HUMAN	129	M	I	Polymorphism	-
A6PVS8	LRIQ3_HUMAN	398	I	V	Polymorphism	-
A6PVS8	LRIQ3_HUMAN	483	L	F	Polymorphism	-
A6PVS8	LRIQ3_HUMAN	35	F	C	Polymorphism	-
A6PVS8	LRIQ3_HUMAN	156	H	Y	Polymorphism	-
A6PVY3	F177B_HUMAN	143	Q	R	Polymorphism	-
A6PVY3	F177B_HUMAN	3	I	S	Polymorphism	-
A6QL63	BTBDB_HUMAN	1076	G	S	Polymorphism	-
A6QL63	BTBDB_HUMAN	1002	A	D	Polymorphism	-
A6QL63	BTBDB_HUMAN	448	G	S	Polymorphism	-
A6XGL0	YJEN3_HUMAN	213	A	T	Polymorphism	-
A6ZKI3	RTL8C_HUMAN	60	S	N	Polymorphism	-
A7E2F4	GOG8A_HUMAN	480	K	N	Polymorphism	-
A7E2F4	GOG8A_HUMAN	541	R	Q	Polymorphism	-
A7E2F4	GOG8A_HUMAN	530	S	N	Polymorphism	-
A7E2Y1	MYH7B_HUMAN	501	F	Y	Polymorphism	-
A7E2Y1	MYH7B_HUMAN	780	P	S	Polymorphism	-
A7E2Y1	MYH7B_HUMAN	1007	E	K	Polymorphism	-
A7E2Y1	MYH7B_HUMAN	1917	V	E	Polymorphism	-
A7E2Y1	MYH7B_HUMAN	1581	A	V	Polymorphism	-
A7E2Y1	MYH7B_HUMAN	1698	Q	R	Polymorphism	-
A7E2Y1	MYH7B_HUMAN	70	P	T	Polymorphism	-
A7E2Y1	MYH7B_HUMAN	1552	K	N	Polymorphism	-
A7MBM2	DISP2_HUMAN	47	P	A	Polymorphism	-
A7MBM2	DISP2_HUMAN	56	C	S	Polymorphism	-
A7MBM2	DISP2_HUMAN	1145	G	S	Polymorphism	-
A7MBM2	DISP2_HUMAN	1247	R	W	Polymorphism	-
A7MBM2	DISP2_HUMAN	388	G	E	Polymorphism	-
A7MD48	SRRM4_HUMAN	547	R	S	Polymorphism	-
A7MD48	SRRM4_HUMAN	243	S	N	Polymorphism	-
A7MD48	SRRM4_HUMAN	406	R	Q	Polymorphism	-
A7XYQ1	SOBP_HUMAN	683	S	G	Polymorphism	-
A8CG34	P121C_HUMAN	379	T	A	Polymorphism	-
A8CG34	P121C_HUMAN	1165	Q	L	Polymorphism	-
A8K0R7	ZN839_HUMAN	531	P	S	Polymorphism	-
A8K0R7	ZN839_HUMAN	314	A	T	Polymorphism	-
A8K0R7	ZN839_HUMAN	731	F	L	Polymorphism	-
A8K0R7	ZN839_HUMAN	693	V	M	Polymorphism	-
A8K2U0	A2ML1_HUMAN	1257	M	V	Polymorphism	-
A8K2U0	A2ML1_HUMAN	356	P	R	Polymorphism	-
A8K2U0	A2ML1_HUMAN	1312	T	M	Polymorphism	-
A8K2U0	A2ML1_HUMAN	296	V	A	Polymorphism	-
A8K2U0	A2ML1_HUMAN	1412	T	A	Polymorphism	-
A8K2U0	A2ML1_HUMAN	1001	R	W	Polymorphism	-
A8K2U0	A2ML1_HUMAN	1431	A	V	Polymorphism	-
A8K2U0	A2ML1_HUMAN	1131	T	M	Polymorphism	-
A8K2U0	A2ML1_HUMAN	850	D	E	Polymorphism	-
A8K2U0	A2ML1_HUMAN	1122	R	W	Polymorphism	-
A8K2U0	A2ML1_HUMAN	1229	H	R	Polymorphism	-
A8K2U0	A2ML1_HUMAN	970	C	Y	Polymorphism	-
A8K2U0	A2ML1_HUMAN	207	G	R	Polymorphism	-
A8K7I4	CLCA1_HUMAN	65	L	F	Polymorphism	-
A8K7I4	CLCA1_HUMAN	152	R	K	Polymorphism	-
A8K7I4	CLCA1_HUMAN	357	N	S	Polymorphism	-
A8K7I4	CLCA1_HUMAN	406	E	V	Polymorphism	-
A8K7I4	CLCA1_HUMAN	426	K	R	Polymorphism	-
A8K7I4	CLCA1_HUMAN	661	Y	H	Polymorphism	-
A8K7I4	CLCA1_HUMAN	760	K	N	Polymorphism	-
A8K7I4	CLCA1_HUMAN	524	M	T	Polymorphism	-
A8K855	EFCB7_HUMAN	262	M	T	Polymorphism	-
A8K855	EFCB7_HUMAN	27	F	I	Polymorphism	-
A8K855	EFCB7_HUMAN	248	T	I	Polymorphism	-
A8K855	EFCB7_HUMAN	186	S	G	Polymorphism	-
A8K855	EFCB7_HUMAN	375	R	K	Polymorphism	-
A8K8P3	SFI1_HUMAN	13	H	L	Polymorphism	-
A8K8P3	SFI1_HUMAN	330	W	R	Polymorphism	-
A8K8P3	SFI1_HUMAN	167	Q	H	Polymorphism	-
A8K8P3	SFI1_HUMAN	322	Y	H	Polymorphism	-
A8K8P3	SFI1_HUMAN	549	R	Q	Polymorphism	-
A8K8P3	SFI1_HUMAN	72	R	H	Polymorphism	-
A8K8P3	SFI1_HUMAN	1087	L	P	Polymorphism	-
A8K8P3	SFI1_HUMAN	760	R	H	Polymorphism	-
A8K8V0	ZN785_HUMAN	316	D	G	Polymorphism	-
A8K8V0	ZN785_HUMAN	337	S	R	Polymorphism	-
A8K979	ERI2_HUMAN	206	I	T	Unclassified	A colorectal cancer sample
A8MPS7	YDJC_HUMAN	263	A	T	Polymorphism	-
A8MPX8	PP2D1_HUMAN	123	F	L	Polymorphism	-
A8MPX8	PP2D1_HUMAN	260	A	T	Polymorphism	-
A8MPX8	PP2D1_HUMAN	37	R	H	Polymorphism	-
A8MT70	ZBBX_HUMAN	555	E	K	Polymorphism	-
A8MT70	ZBBX_HUMAN	346	H	R	Polymorphism	-
A8MT70	ZBBX_HUMAN	160	K	N	Polymorphism	-
A8MT70	ZBBX_HUMAN	511	I	T	Polymorphism	-
A8MT70	ZBBX_HUMAN	178	K	R	Polymorphism	-
A8MT70	ZBBX_HUMAN	14	P	T	Polymorphism	-
A8MT70	ZBBX_HUMAN	636	A	G	Polymorphism	-
A8MT70	ZBBX_HUMAN	473	A	G	Polymorphism	-
A8MTB9	CEA18_HUMAN	161	T	A	Polymorphism	-
A8MTB9	CEA18_HUMAN	160	L	H	Polymorphism	-
A8MTQ0	NOTO_HUMAN	5	R	T	Polymorphism	-
A8MTQ0	NOTO_HUMAN	164	N	K	Polymorphism	-
A8MTY7	KRA97_HUMAN	23	T	I	Polymorphism	-
A8MTY7	KRA97_HUMAN	130	S	N	Polymorphism	-
A8MTZ7	CL071_HUMAN	140	I	V	Polymorphism	-
A8MUM7	LEG16_HUMAN	97	L	H	Polymorphism	-
A8MUP2	CSKMT_HUMAN	125	G	S	Polymorphism	-
A8MV23	SERP3_HUMAN	143	D	N	Polymorphism	-
A8MV24	CQ098_HUMAN	61	P	L	Polymorphism	-
A8MVA2	KRA96_HUMAN	86	Y	C	Polymorphism	-
A8MVW5	HECA2_HUMAN	114	F	L	Polymorphism	-
A8MVW5	HECA2_HUMAN	86	K	T	Polymorphism	-
A8MVW5	HECA2_HUMAN	31	G	R	Unclassified	A breast cancer sample
A8MWL7	TM14D_HUMAN	108	R	C	Polymorphism	-
A8MWY0	K132L_HUMAN	539	N	Y	Polymorphism	-
A8MWY0	K132L_HUMAN	729	L	V	Polymorphism	-
A8MWY0	K132L_HUMAN	767	S	R	Polymorphism	-
A8MXD5	GRCR1_HUMAN	9	E	K	Polymorphism	-
A8MXD5	GRCR1_HUMAN	138	R	C	Disease	Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285]
A8MXD5	GRCR1_HUMAN	51	G	E	Polymorphism	-
A8MXD5	GRCR1_HUMAN	153	F	V	Disease	Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285]
A8MXD5	GRCR1_HUMAN	64	G	S	Disease	Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285]
A8MXD5	GRCR1_HUMAN	38	P	L	Disease	Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285]
A8MXD5	GRCR1_HUMAN	91	G	V	Polymorphism	-
A8MXQ7	YH010_HUMAN	509	T	R	Polymorphism	-
A8MXV4	NUD19_HUMAN	43	R	Q	Polymorphism	-
A8MXY4	ZNF99_HUMAN	7	W	R	Polymorphism	-
A8MXY4	ZNF99_HUMAN	129	A	G	Polymorphism	-
A8MYU2	KCNU1_HUMAN	916	N	S	Polymorphism	-
A8MYU2	KCNU1_HUMAN	768	W	R	Polymorphism	-
A8MYU2	KCNU1_HUMAN	175	D	N	Polymorphism	-
A8MZ36	EVPLL_HUMAN	4	S	N	Polymorphism	-
A8TX70	CO6A5_HUMAN	805	H	R	Polymorphism	-
A8TX70	CO6A5_HUMAN	455	E	K	Polymorphism	-
A8TX70	CO6A5_HUMAN	641	N	H	Polymorphism	-
A8TX70	CO6A5_HUMAN	2175	D	N	Polymorphism	-
A8TX70	CO6A5_HUMAN	1589	S	P	Polymorphism	-
A8TX70	CO6A5_HUMAN	2188	Q	R	Polymorphism	-
A8TX70	CO6A5_HUMAN	1280	T	P	Polymorphism	-
A8TX70	CO6A5_HUMAN	982	D	G	Polymorphism	-
A8TX70	CO6A5_HUMAN	2205	G	D	Polymorphism	-
A8TX70	CO6A5_HUMAN	1114	I	M	Polymorphism	-
A8TX70	CO6A5_HUMAN	1477	C	S	Polymorphism	-
A9YTQ3	AHRR_HUMAN	627	D	H	Polymorphism	-
A9YTQ3	AHRR_HUMAN	373	G	V	Polymorphism	-
A9YTQ3	AHRR_HUMAN	189	P	A	Polymorphism	-
A9YTQ3	AHRR_HUMAN	114	L	P	Polymorphism	-
A9Z1Z3	FR1L4_HUMAN	1179	K	E	Polymorphism	-
A9Z1Z3	FR1L4_HUMAN	1318	V	I	Polymorphism	-
A9Z1Z3	FR1L4_HUMAN	1183	N	S	Polymorphism	-
B0I1T2	MYO1G_HUMAN	798	R	Q	Polymorphism	-
B0I1T2	MYO1G_HUMAN	489	M	T	Polymorphism	-
B0I1T2	MYO1G_HUMAN	861	Q	R	Polymorphism	-
B0I1T2	MYO1G_HUMAN	49	V	M	Polymorphism	-
B0YJ81	HACD1_HUMAN	227	H	Y	Polymorphism	-
B0YJ81	HACD1_HUMAN	64	E	Q	Polymorphism	-
B0YJ81	HACD1_HUMAN	64	E	K	Polymorphism	-
B0YJ81	HACD1_HUMAN	70	V	F	Polymorphism	-
B1AH88	TSPOB_HUMAN	53	H	R	Polymorphism	-
B1AJZ9	FHAD1_HUMAN	763	E	K	Polymorphism	-
B1AK53	ESPN_HUMAN	774	R	Q	Unclassified	Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]
B1AK53	ESPN_HUMAN	322	R	H	Polymorphism	-
B1AK53	ESPN_HUMAN	719	S	R	Disease	Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]
B1AK53	ESPN_HUMAN	323	Y	C	Polymorphism	-
B1AK53	ESPN_HUMAN	744	D	N	Disease	Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]
B1AKI9	ISM1_HUMAN	193	P	R	Polymorphism	-
B1ANS9	WDR64_HUMAN	647	R	Q	Polymorphism	-
B1ANS9	WDR64_HUMAN	952	R	W	Polymorphism	-
B1ANY3	F220P_HUMAN	203	K	N	Polymorphism	-
B1ANY3	F220P_HUMAN	162	W	R	Polymorphism	-
B1ANY3	F220P_HUMAN	199	K	N	Polymorphism	-
B1APH4	ZN487_HUMAN	120	R	S	Polymorphism	-
B1APH4	ZN487_HUMAN	61	P	R	Polymorphism	-
B1ATL7	PRR32_HUMAN	193	M	T	Polymorphism	-
B1ATL7	PRR32_HUMAN	115	L	V	Polymorphism	-
B2RC85	R10B2_HUMAN	836	E	K	Polymorphism	-
B2RTY4	MYO9A_HUMAN	37	R	K	Polymorphism	-
B2RTY4	MYO9A_HUMAN	211	L	P	Polymorphism	-
B2RTY4	MYO9A_HUMAN	85	R	Q	Polymorphism	-
B2RTY4	MYO9A_HUMAN	203	Y	C	Unclassified	Myasthenic syndrome, congenital, 24, presynaptic (CMS24) [MIM:618198]
B2RTY4	MYO9A_HUMAN	168	N	D	Polymorphism	-
B2RTY4	MYO9A_HUMAN	1805	H	Q	Polymorphism	-
B2RTY4	MYO9A_HUMAN	946	R	Q	Polymorphism	-
B2RTY4	MYO9A_HUMAN	1834	R	C	Polymorphism	-
B2RTY4	MYO9A_HUMAN	2390	I	V	Polymorphism	-
B2RTY4	MYO9A_HUMAN	2283	R	H	Unclassified	Myasthenic syndrome, congenital, 24, presynaptic (CMS24) [MIM:618198]
B2RTY4	MYO9A_HUMAN	2282	G	E	Unclassified	Myasthenic syndrome, congenital, 24, presynaptic (CMS24) [MIM:618198]
B2RTY4	MYO9A_HUMAN	161	T	I	Polymorphism	-
B2RTY4	MYO9A_HUMAN	1193	G	E	Polymorphism	-
B2RTY4	MYO9A_HUMAN	1476	P	R	Polymorphism	-
B2RTY4	MYO9A_HUMAN	1698	D	G	Unclassified	Myasthenic syndrome, congenital, 24, presynaptic (CMS24) [MIM:618198]
B2RTY4	MYO9A_HUMAN	825	A	V	Polymorphism	-
B2RTY4	MYO9A_HUMAN	1362	S	P	Polymorphism	-
B2RTY4	MYO9A_HUMAN	1795	H	Y	Polymorphism	-
B2RTY4	MYO9A_HUMAN	1517	R	H	Unclassified	Myasthenic syndrome, congenital, 24, presynaptic (CMS24) [MIM:618198]
B2RU33	POTEC_HUMAN	3	T	A	Polymorphism	-
B2RU33	POTEC_HUMAN	66	H	R	Polymorphism	-
B2RU33	POTEC_HUMAN	13	A	T	Polymorphism	-
B2RU33	POTEC_HUMAN	30	H	P	Polymorphism	-
B2RU33	POTEC_HUMAN	28	F	C	Polymorphism	-
B2RU33	POTEC_HUMAN	36	K	R	Polymorphism	-
B2RU33	POTEC_HUMAN	10	A	T	Polymorphism	-
B2RU33	POTEC_HUMAN	86	H	D	Polymorphism	-
B2RU33	POTEC_HUMAN	166	M	I	Polymorphism	-
B2RU33	POTEC_HUMAN	221	C	R	Polymorphism	-
B2RU33	POTEC_HUMAN	72	C	Y	Polymorphism	-
B2RUZ4	SMIM1_HUMAN	51	M	R	Polymorphism	-
B2RUZ4	SMIM1_HUMAN	51	M	K	Polymorphism	-
B2RXF5	ZBT42_HUMAN	397	R	H	Disease	Lethal congenital contracture syndrome 6 (LCCS6) [MIM:616248]
B2RXH2	KDM4E_HUMAN	113	Q	R	Polymorphism	-
B2RXH2	KDM4E_HUMAN	42	Q	R	Polymorphism	-
B2RXH2	KDM4E_HUMAN	26	A	T	Polymorphism	-
B2RXH2	KDM4E_HUMAN	258	F	S	Polymorphism	-
B2RXH4	BTBDI_HUMAN	302	S	T	Polymorphism	-
B2RXH4	BTBDI_HUMAN	352	E	G	Polymorphism	-
B3EWG3	FM25A_HUMAN	35	V	L	Polymorphism	-
B3GLJ2	PATE3_HUMAN	30	T	K	Polymorphism	-
B3SHH9	TM114_HUMAN	35	I	T	Polymorphism	-
B3SHH9	TM114_HUMAN	147	A	V	Polymorphism	-
B3SHH9	TM114_HUMAN	206	F	L	Polymorphism	-
B6A8C7	TARM1_HUMAN	258	R	W	Polymorphism	-
B6A8C7	TARM1_HUMAN	111	R	H	Polymorphism	-
B6A8C7	TARM1_HUMAN	37	S	P	Polymorphism	-
B7U540	KCJ18_HUMAN	140	T	M	Disease	Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
B7U540	KCJ18_HUMAN	169	G	R	Polymorphism	-
B7U540	KCJ18_HUMAN	43	R	C	Unclassified	-
B7U540	KCJ18_HUMAN	354	T	M	Disease	Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
B7U540	KCJ18_HUMAN	168	V	M	Unclassified	Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
B7U540	KCJ18_HUMAN	366	K	R	Disease	Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
B7U540	KCJ18_HUMAN	388	E	K	Disease	Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
B7U540	KCJ18_HUMAN	205	R	H	Disease	Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
B7U540	KCJ18_HUMAN	360	K	T	Disease	Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
B7U540	KCJ18_HUMAN	249	I	V	Polymorphism	-
B7U540	KCJ18_HUMAN	200	A	P	Unclassified	-
B7U540	KCJ18_HUMAN	56	A	E	Polymorphism	-
B7ZBB8	PP13G_HUMAN	280	P	Q	Polymorphism	-
C9JDP6	CLD25_HUMAN	219	H	Y	Polymorphism	-
C9JDV5	CL097_HUMAN	131	L	F	Polymorphism	-
C9JE40	PATL2_HUMAN	189	L	R	Disease	Oocyte maturation defect 4 (OOMD4) [MIM:617743]
C9JE40	PATL2_HUMAN	217	Y	N	Disease	Oocyte maturation defect 4 (OOMD4) [MIM:617743]
C9JE40	PATL2_HUMAN	88	M	L	Polymorphism	-
C9JE40	PATL2_HUMAN	280	R	Q	Unclassified	Oocyte maturation defect 4 (OOMD4) [MIM:617743]
C9JE40	PATL2_HUMAN	370	G	R	Unclassified	Oocyte maturation defect 4 (OOMD4) [MIM:617743]
C9JE40	PATL2_HUMAN	318	I	T	Unclassified	Oocyte maturation defect 4 (OOMD4) [MIM:617743]
C9JR72	KBTBD_HUMAN	408	R	C	Disease	Nemaline myopathy 6 (NEM6) [MIM:609273]
C9JR72	KBTBD_HUMAN	390	K	N	Disease	Nemaline myopathy 6 (NEM6) [MIM:609273]
C9JR72	KBTBD_HUMAN	248	R	S	Disease	Nemaline myopathy 6 (NEM6) [MIM:609273]
C9JXX5	CK094_HUMAN	80	Q	H	Polymorphism	-
D6RGH6	MCIN_HUMAN	381	R	H	Unclassified	-
D6RGH6	MCIN_HUMAN	366	G	D	Unclassified	-
D6RIA3	CD054_HUMAN	1415	F	S	Unclassified	-
D6RIA3	CD054_HUMAN	1632	T	I	Unclassified	-
D6RIA3	CD054_HUMAN	595	G	R	Unclassified	-
E2RYF6	MUC22_HUMAN	1712	N	D	Polymorphism	-
E9PAV3	NACAM_HUMAN	1795	S	T	Polymorphism	-
E9PAV3	NACAM_HUMAN	1841	L	P	Polymorphism	-
E9PAV3	NACAM_HUMAN	336	V	E	Polymorphism	-
E9PAV3	NACAM_HUMAN	405	F	S	Polymorphism	-
E9PAV3	NACAM_HUMAN	519	P	S	Polymorphism	-
I3L3R5	CCER2_HUMAN	160	E	K	Polymorphism	-
I3L3R5	CCER2_HUMAN	195	R	C	Polymorphism	-
I3L3R5	CCER2_HUMAN	242	E	K	Unclassified	-
I3L3R5	CCER2_HUMAN	224	A	T	Polymorphism	-
I3L3R5	CCER2_HUMAN	39	L	P	Polymorphism	-
I3L3R5	CCER2_HUMAN	64	E	D	Polymorphism	-
I3L3R5	CCER2_HUMAN	249	D	G	Polymorphism	-
I3L3R5	CCER2_HUMAN	80	G	V	Polymorphism	-
I3L3R5	CCER2_HUMAN	33	E	D	Polymorphism	-
I3L3R5	CCER2_HUMAN	232	E	A	Polymorphism	-
M0R2J8	DCDC1_HUMAN	7	E	G	Polymorphism	-
M0R2J8	DCDC1_HUMAN	83	V	M	Polymorphism	-
O00115	DNS2A_HUMAN	39	R	I	Polymorphism	-
O00115	DNS2A_HUMAN	314	R	L	Polymorphism	-
O00115	DNS2A_HUMAN	204	H	R	Polymorphism	-
O00116	ADAS_HUMAN	469	L	P	Disease	Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
O00116	ADAS_HUMAN	309	T	I	Disease	Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
O00116	ADAS_HUMAN	419	R	H	Disease	Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
O00116	ADAS_HUMAN	182	R	Q	Disease	Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
O00116	ADAS_HUMAN	471	E	K	Disease	Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
O00116	ADAS_HUMAN	568	T	M	Disease	Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
O00124	UBXN8_HUMAN	18	V	M	Polymorphism	-
O00124	UBXN8_HUMAN	51	I	T	Polymorphism	-
O00139	KIF2A_HUMAN	321	H	D	Disease	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3) [MIM:615411]
O00139	KIF2A_HUMAN	317	S	N	Disease	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3) [MIM:615411]
O00141	SGK1_HUMAN	219	V	I	Polymorphism	-
O00141	SGK1_HUMAN	342	A	V	Polymorphism	-
O00142	KITM_HUMAN	64	T	M	Disease	Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
O00142	KITM_HUMAN	139	A	V	Disease	Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
O00142	KITM_HUMAN	183	R	W	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 (PEOB3) [MIM:617069]
O00142	KITM_HUMAN	212	I	N	Disease	Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
O00142	KITM_HUMAN	117	M	V	Disease	Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
O00142	KITM_HUMAN	53	I	M	Disease	Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
O00142	KITM_HUMAN	188	T	A	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 (PEOB3) [MIM:617069]
O00142	KITM_HUMAN	192	R	K	Disease	Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
O00142	KITM_HUMAN	108	T	M	Disease	Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
O00142	KITM_HUMAN	121	H	N	Disease	Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
O00142	KITM_HUMAN	183	R	W	Disease	Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560]
O00148	DX39A_HUMAN	142	V	I	Polymorphism	-
O00151	PDLI1_HUMAN	175	N	S	Polymorphism	-
O00159	MYO1C_HUMAN	826	Q	R	Polymorphism	-
O00159	MYO1C_HUMAN	795	V	I	Polymorphism	-
O00160	MYO1F_HUMAN	960	P	L	Polymorphism	-
O00160	MYO1F_HUMAN	502	I	V	Disease	-
O00165	HAX1_HUMAN	172	V	I	Disease	Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738]
O00165	HAX1_HUMAN	141	F	L	Disease	Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738]
O00165	HAX1_HUMAN	151	S	G	Polymorphism	-
O00165	HAX1_HUMAN	130	L	R	Disease	Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738]
O00165	HAX1_HUMAN	49	P	S	Polymorphism	-
O00165	HAX1_HUMAN	278	S	P	Polymorphism	-
O00167	EYA2_HUMAN	238	T	A	Polymorphism	-
O00167	EYA2_HUMAN	83	P	S	Polymorphism	-
O00170	AIP_HUMAN	304	R	Q	Disease	Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]
O00170	AIP_HUMAN	307	Q	R	Polymorphism	-
O00170	AIP_HUMAN	271	R	W	Unclassified	Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]
O00170	AIP_HUMAN	16	R	H	Polymorphism	-
O00170	AIP_HUMAN	228	Q	K	Polymorphism	-
O00170	AIP_HUMAN	241	K	E	Unclassified	Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]
O00175	CCL24_HUMAN	31	S	F	Polymorphism	-
O00175	CCL24_HUMAN	29	I	L	Polymorphism	-
O00175	CCL24_HUMAN	110	Q	E	Polymorphism	-
O00175	CCL24_HUMAN	102	A	T	Polymorphism	-
O00178	GTPB1_HUMAN	91	G	R	Polymorphism	-
O00182	LEG9_HUMAN	5	G	S	Polymorphism	-
O00186	STXB3_HUMAN	295	R	Q	Polymorphism	-
O00186	STXB3_HUMAN	546	C	G	Polymorphism	-
O00186	STXB3_HUMAN	433	E	G	Polymorphism	-
O00187	MASP2_HUMAN	128	T	M	Polymorphism	-
O00187	MASP2_HUMAN	371	D	Y	Polymorphism	-
O00187	MASP2_HUMAN	405	V	M	Polymorphism	-
O00187	MASP2_HUMAN	155	H	R	Polymorphism	-
O00187	MASP2_HUMAN	126	P	L	Disease	MASP2 deficiency (MASPD) [MIM:613791]
O00187	MASP2_HUMAN	118	R	C	Polymorphism	-
O00187	MASP2_HUMAN	120	D	G	Disease	MASP2 deficiency (MASPD) [MIM:613791]
O00187	MASP2_HUMAN	439	R	H	Polymorphism	-
O00187	MASP2_HUMAN	99	R	Q	Polymorphism	-
O00187	MASP2_HUMAN	377	V	A	Polymorphism	-
O00192	ARVC_HUMAN	909	R	W	Polymorphism	-
O00192	ARVC_HUMAN	906	R	Q	Polymorphism	-
O00192	ARVC_HUMAN	909	R	Q	Polymorphism	-
O00192	ARVC_HUMAN	175	V	A	Polymorphism	-
O00192	ARVC_HUMAN	539	R	Q	Polymorphism	-
O00192	ARVC_HUMAN	912	R	W	Polymorphism	-
O00192	ARVC_HUMAN	220	P	L	Polymorphism	-
O00194	RB27B_HUMAN	92	A	T	Polymorphism	-
O00203	AP3B1_HUMAN	580	L	R	Disease	Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233]
O00203	AP3B1_HUMAN	585	V	E	Polymorphism	-
O00204	ST2B1_HUMAN	149	P	L	Unclassified	Ichthyosis, congenital, autosomal recessive 14 (ARCI14) [MIM:617571]
O00204	ST2B1_HUMAN	240	V	I	Polymorphism	-
O00204	ST2B1_HUMAN	345	P	L	Polymorphism	-
O00204	ST2B1_HUMAN	51	L	S	Polymorphism	-
O00204	ST2B1_HUMAN	274	R	Q	Unclassified	Ichthyosis, congenital, autosomal recessive 14 (ARCI14) [MIM:617571]
O00206	TLR4_HUMAN	763	R	H	Polymorphism	-
O00206	TLR4_HUMAN	299	D	G	Polymorphism	-
O00206	TLR4_HUMAN	694	K	R	Polymorphism	-
O00206	TLR4_HUMAN	188	Q	R	Polymorphism	-
O00206	TLR4_HUMAN	175	T	A	Polymorphism	-
O00206	TLR4_HUMAN	310	V	G	Polymorphism	-
O00206	TLR4_HUMAN	510	Q	H	Polymorphism	-
O00206	TLR4_HUMAN	443	F	L	Polymorphism	-
O00206	TLR4_HUMAN	834	Q	H	Polymorphism	-
O00206	TLR4_HUMAN	474	E	K	Polymorphism	-
O00206	TLR4_HUMAN	306	C	W	Polymorphism	-
O00206	TLR4_HUMAN	399	T	I	Polymorphism	-
O00206	TLR4_HUMAN	329	N	S	Polymorphism	-
O00206	TLR4_HUMAN	400	S	N	Polymorphism	-
O00206	TLR4_HUMAN	287	E	D	Polymorphism	-
O00206	TLR4_HUMAN	342	F	Y	Polymorphism	-
O00206	TLR4_HUMAN	246	C	S	Polymorphism	-
O00206	TLR4_HUMAN	385	L	F	Polymorphism	-
O00212	RHOD_HUMAN	134	C	R	Polymorphism	-
O00213	APBB1_HUMAN	396	N	S	Polymorphism	-
O00213	APBB1_HUMAN	327	M	V	Polymorphism	-
O00214	LEG8_HUMAN	184	R	S	Polymorphism	-
O00214	LEG8_HUMAN	36	R	C	Polymorphism	-
O00214	LEG8_HUMAN	19	F	Y	Polymorphism	-
O00214	LEG8_HUMAN	56	M	V	Polymorphism	-
O00217	NDUS8_HUMAN	159	A	D	Unclassified	Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]
O00217	NDUS8_HUMAN	102	R	H	Disease	Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]
O00217	NDUS8_HUMAN	85	P	L	Unclassified	Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]
O00217	NDUS8_HUMAN	77	R	W	Unclassified	Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]
O00217	NDUS8_HUMAN	79	P	L	Disease	Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]
O00217	NDUS8_HUMAN	63	E	Q	Disease	Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]
O00217	NDUS8_HUMAN	138	R	H	Unclassified	Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]
O00219	HYAS3_HUMAN	173	R	H	Polymorphism	-
O00220	TR10A_HUMAN	297	N	H	Polymorphism	-
O00220	TR10A_HUMAN	209	R	T	Polymorphism	-
O00220	TR10A_HUMAN	11	G	V	Polymorphism	-
O00220	TR10A_HUMAN	105	P	R	Polymorphism	-
O00220	TR10A_HUMAN	441	R	K	Polymorphism	-
O00220	TR10A_HUMAN	141	H	R	Polymorphism	-
O00220	TR10A_HUMAN	228	E	A	Polymorphism	-
O00220	TR10A_HUMAN	33	T	I	Polymorphism	-
O00221	IKBE_HUMAN	194	V	A	Polymorphism	-
O00221	IKBE_HUMAN	95	H	Q	Polymorphism	-
O00222	GRM8_HUMAN	368	G	D	Polymorphism	-
O00222	GRM8_HUMAN	265	I	T	Polymorphism	-
O00222	GRM8_HUMAN	10	S	C	Polymorphism	-
O00222	GRM8_HUMAN	343	R	Q	Polymorphism	-
O00222	GRM8_HUMAN	362	F	Y	Polymorphism	-
O00222	GRM8_HUMAN	430	L	F	Polymorphism	-
O00222	GRM8_HUMAN	902	S	I	Polymorphism	-
O00222	GRM8_HUMAN	768	I	N	Polymorphism	-
O00222	GRM8_HUMAN	548	V	G	Polymorphism	-
O00222	GRM8_HUMAN	21	F	C	Polymorphism	-
O00222	GRM8_HUMAN	392	R	Q	Polymorphism	-
O00232	PSD12_HUMAN	358	V	A	Polymorphism	-
O00233	PSMD9_HUMAN	17	V	A	Polymorphism	-
O00233	PSMD9_HUMAN	134	R	W	Polymorphism	-
O00233	PSMD9_HUMAN	74	T	I	Polymorphism	-
O00233	PSMD9_HUMAN	197	E	G	Polymorphism	-
O00238	BMR1B_HUMAN	486	R	W	Disease	Brachydactyly A2 (BDA2) [MIM:112600]
O00238	BMR1B_HUMAN	31	R	C	Unclassified	Acromesomelic dysplasia, Demirhan type (AMDD) [MIM:609441]
O00238	BMR1B_HUMAN	224	R	H	Polymorphism	-
O00238	BMR1B_HUMAN	486	R	Q	Disease	Brachydactyly A2 (BDA2) [MIM:112600]
O00238	BMR1B_HUMAN	371	R	Q	Polymorphism	-
O00238	BMR1B_HUMAN	53	C	R	Disease	Acromesomelic dysplasia, Demirhan type (AMDD) [MIM:609441]
O00238	BMR1B_HUMAN	325	K	N	Disease	Brachydactyly A1, D (BDA1D) [MIM:616849]
O00238	BMR1B_HUMAN	149	R	W	Polymorphism	-
O00238	BMR1B_HUMAN	31	R	H	Unclassified	A gastric adenocarcinoma sample
O00238	BMR1B_HUMAN	297	D	N	Unclassified	A metastatic melanoma sample
O00238	BMR1B_HUMAN	200	I	K	Disease	Brachydactyly A2 (BDA2) [MIM:112600]
O00241	SIRB1_HUMAN	53	R	H	Polymorphism	-
O00241	SIRB1_HUMAN	363	A	P	Polymorphism	-
O00241	SIRB1_HUMAN	23	R	G	Polymorphism	-
O00241	SIRB1_HUMAN	229	I	M	Polymorphism	-
O00253	AGRP_HUMAN	67	A	T	Polymorphism	-
O00254	PAR3_HUMAN	177	M	V	Polymorphism	-
O00254	PAR3_HUMAN	15	L	S	Polymorphism	-
O00254	PAR3_HUMAN	250	N	D	Polymorphism	-
O00255	MEN1_HUMAN	147	I	F	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	310	G	D	Disease	-
O00255	MEN1_HUMAN	449	L	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	22	L	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	316	T	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	325	P	L	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	139	H	D	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	532	R	C	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	432	S	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	322	H	Y	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	322	H	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	282	P	H	Disease	-
O00255	MEN1_HUMAN	286	G	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	39	L	W	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	12	P	L	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	319	R	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	418	L	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	325	P	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	260	E	K	Disease	-
O00255	MEN1_HUMAN	245	V	F	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	139	H	Y	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	279	E	A	Unclassified	Parathyroid tumor
O00255	MEN1_HUMAN	476	W	C	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	157	L	W	Unclassified	Parathyroid tumors
O00255	MEN1_HUMAN	159	S	I	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	165	A	T	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	167	V	F	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	291	L	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	247	A	V	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	545	P	S	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	177	D	Y	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	546	T	A	Polymorphism	-
O00255	MEN1_HUMAN	269	L	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	258	S	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	264	L	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	549	P	S	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	258	S	W	Unclassified	Parathyroid tumor
O00255	MEN1_HUMAN	158	D	V	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	184	E	K	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	170	C	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	314	A	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	560	S	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	220	V	F	Unclassified	-
O00255	MEN1_HUMAN	220	V	M	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	420	R	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	441	W	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	45	E	G	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	390	A	V	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	246	C	F	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	441	W	C	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	139	H	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	176	R	Q	Polymorphism	-
O00255	MEN1_HUMAN	169	A	D	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	557	T	S	Polymorphism	-
O00255	MEN1_HUMAN	289	A	E	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	188	W	S	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	189	V	E	Disease	-
O00255	MEN1_HUMAN	452	F	S	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	358	Y	D	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	289	A	P	Unclassified	Parathyroid tumor
O00255	MEN1_HUMAN	161	G	D	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	188	W	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	173	L	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	188	W	R	Unclassified	Parathyroid tumor
O00255	MEN1_HUMAN	186	H	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	234	R	L	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	42	G	D	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	139	H	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	228	L	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	272	L	P	Disease	-
O00255	MEN1_HUMAN	423	D	H	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	161	G	D	Unclassified	Parathyroid tumor
O00255	MEN1_HUMAN	349	T	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	423	D	N	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	26	E	K	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	230	G	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	181	A	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	144	F	V	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	419	L	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	360	R	W	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	362	D	H	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	98	R	L	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	246	C	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	45	E	K	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	246	C	Y	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	347	A	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	416	A	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	373	A	D	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	165	A	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	330	A	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	184	E	Q	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	265	Q	P	Disease	-
O00255	MEN1_HUMAN	428	W	S	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	342	A	P	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	160	S	F	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	135	K	I	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	110	G	E	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	560	S	N	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	378	P	S	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	377	I	M	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	426	C	Y	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	353	I	N	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	184	E	D	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	364	E	K	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	342	A	D	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00255	MEN1_HUMAN	346	W	R	Disease	Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
O00258	WRB_HUMAN	110	V	I	Polymorphism	-
O00268	TAF4_HUMAN	651	P	L	Polymorphism	-
O00270	GPR31_HUMAN	91	H	R	Polymorphism	-
O00291	HIP1_HUMAN	263	M	K	Polymorphism	-
O00292	LFTY2_HUMAN	286	P	L	Polymorphism	-
O00292	LFTY2_HUMAN	92	S	L	Polymorphism	-
O00292	LFTY2_HUMAN	342	S	N	Disease	Left-right axis malformations (LRAM) [MIM:601877]
O00294	TULP1_HUMAN	261	K	T	Disease	Retinitis pigmentosa 14 (RP14) [MIM:600132]
O00294	TULP1_HUMAN	67	T	R	Polymorphism	-
O00294	TULP1_HUMAN	259	I	T	Polymorphism	-
O00294	TULP1_HUMAN	378	R	H	Disease	Retinitis pigmentosa 14 (RP14) [MIM:600132]
O00294	TULP1_HUMAN	420	R	P	Disease	Retinitis pigmentosa 14 (RP14) [MIM:600132]
O00294	TULP1_HUMAN	482	R	W	Disease	Retinitis pigmentosa 14 (RP14) [MIM:600132]
O00294	TULP1_HUMAN	496	A	T	Unclassified	Retinitis pigmentosa 14 (RP14) [MIM:600132]
O00294	TULP1_HUMAN	261	K	N	Polymorphism	-
O00294	TULP1_HUMAN	489	K	R	Disease	Retinitis pigmentosa 14 (RP14) [MIM:600132]
O00294	TULP1_HUMAN	368	G	W	Disease	Leber congenital amaurosis 15 (LCA15) [MIM:613843]
O00294	TULP1_HUMAN	459	I	K	Disease	Retinitis pigmentosa 14 (RP14) [MIM:600132]
O00294	TULP1_HUMAN	400	R	W	Disease	Leber congenital amaurosis 15 (LCA15) [MIM:613843]
O00294	TULP1_HUMAN	245	A	V	Disease	Retinitis pigmentosa 14 (RP14) [MIM:600132]
O00294	TULP1_HUMAN	491	F	L	Disease	Retinitis pigmentosa 14 (RP14) [MIM:600132]
O00294	TULP1_HUMAN	454	T	M	Disease	Retinitis pigmentosa 14 (RP14) [MIM:600132]
O00294	TULP1_HUMAN	382	F	S	Disease	Retinitis pigmentosa 14 (RP14) [MIM:600132]
O00295	TULP2_HUMAN	245	E	K	Polymorphism	-
O00295	TULP2_HUMAN	18	A	T	Polymorphism	-
O00295	TULP2_HUMAN	149	V	I	Unclassified	-
O00295	TULP2_HUMAN	251	D	N	Polymorphism	-
O00295	TULP2_HUMAN	122	G	S	Polymorphism	-
O00300	TR11B_HUMAN	104	V	M	Polymorphism	-
O00300	TR11B_HUMAN	3	N	K	Polymorphism	-
O00303	EIF3F_HUMAN	172	W	L	Polymorphism	-
O00303	EIF3F_HUMAN	232	F	V	Disease	Intellectual developmental disorder, autosomal recessive 67 (MRT67) [MIM:618295]
O00303	EIF3F_HUMAN	39	P	L	Polymorphism	-
O00305	CACB4_HUMAN	104	C	F	Disease	Episodic ataxia 5 (EA5) [MIM:613855]
O00311	CDC7_HUMAN	472	T	I	Polymorphism	-
O00311	CDC7_HUMAN	162	F	L	Polymorphism	-
O00311	CDC7_HUMAN	208	I	M	Polymorphism	-
O00311	CDC7_HUMAN	112	G	W	Polymorphism	-
O00311	CDC7_HUMAN	209	E	D	Polymorphism	-
O00311	CDC7_HUMAN	498	S	A	Polymorphism	-
O00311	CDC7_HUMAN	441	K	R	Polymorphism	-
O00311	CDC7_HUMAN	99	I	V	Polymorphism	-
O00311	CDC7_HUMAN	23	Q	P	Polymorphism	-
O00321	ETV2_HUMAN	90	D	N	Polymorphism	-
O00322	UPK1A_HUMAN	33	S	A	Polymorphism	-
O00322	UPK1A_HUMAN	257	M	T	Polymorphism	-
O00329	PK3CD_HUMAN	1021	E	K	Disease	Activated PI3K-delta syndrome (APDS) [MIM:615513]
O00330	ODPX_HUMAN	23	R	C	Polymorphism	-
O00330	ODPX_HUMAN	101	T	A	Polymorphism	-
O00330	ODPX_HUMAN	370	D	V	Polymorphism	-
O00337	S28A1_HUMAN	237	Q	K	Polymorphism	-
O00337	S28A1_HUMAN	189	V	I	Polymorphism	-
O00337	S28A1_HUMAN	546	S	P	Polymorphism	-
O00337	S28A1_HUMAN	409	N	S	Polymorphism	-
O00337	S28A1_HUMAN	190	A	S	Polymorphism	-
O00337	S28A1_HUMAN	521	D	N	Polymorphism	-
O00337	S28A1_HUMAN	34	E	G	Polymorphism	-
O00337	S28A1_HUMAN	510	R	C	Polymorphism	-
O00338	ST1C2_HUMAN	282	R	T	Polymorphism	-
O00338	ST1C2_HUMAN	255	S	A	Polymorphism	-
O00338	ST1C2_HUMAN	128	Y	H	Polymorphism	-
O00339	MATN2_HUMAN	932	V	I	Polymorphism	-
O00339	MATN2_HUMAN	187	T	M	Polymorphism	-
O00339	MATN2_HUMAN	599	A	T	Polymorphism	-
O00339	MATN2_HUMAN	356	K	E	Polymorphism	-
O00339	MATN2_HUMAN	855	T	M	Polymorphism	-
O00339	MATN2_HUMAN	14	G	A	Polymorphism	-
O00341	EAA5_HUMAN	41	R	C	Unclassified	A colorectal cancer sample
O00341	EAA5_HUMAN	537	Q	R	Polymorphism	-
O00358	FOXE1_HUMAN	248	A	G	Disease	Thyroid cancer, non-medullary, 4 (NMTC4) [MIM:616534]
O00358	FOXE1_HUMAN	57	S	N	Disease	Bamforth-Lazarus syndrome (BLS) [MIM:241850]
O00358	FOXE1_HUMAN	73	R	S	Disease	Bamforth-Lazarus syndrome (BLS) [MIM:241850]
O00358	FOXE1_HUMAN	132	N	D	Polymorphism	-
O00358	FOXE1_HUMAN	137	F	S	Unclassified	-
O00358	FOXE1_HUMAN	102	R	C	Polymorphism	-
O00358	FOXE1_HUMAN	65	A	V	Disease	Bamforth-Lazarus syndrome (BLS) [MIM:241850]
O00391	QSOX1_HUMAN	591	N	H	Polymorphism	-
O00391	QSOX1_HUMAN	605	R	P	Polymorphism	-
O00391	QSOX1_HUMAN	294	A	S	Polymorphism	-
O00391	QSOX1_HUMAN	200	G	A	Polymorphism	-
O00391	QSOX1_HUMAN	256	R	M	Polymorphism	-
O00391	QSOX1_HUMAN	114	N	S	Polymorphism	-
O00391	QSOX1_HUMAN	444	H	R	Polymorphism	-
O00398	P2Y10_HUMAN	3	N	H	Polymorphism	-
O00400	ACATN_HUMAN	110	A	P	Disease	Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482]
O00400	ACATN_HUMAN	171	D	G	Polymorphism	-
O00400	ACATN_HUMAN	400	V	A	Unclassified	A colorectal cancer sample
O00400	ACATN_HUMAN	113	S	R	Disease	Spastic paraplegia 42, autosomal dominant (SPG42) [MIM:612539]
O00408	PDE2A_HUMAN	224	T	I	Polymorphism	-
O00409	FOXN3_HUMAN	337	Y	H	Polymorphism	-
O00410	IPO5_HUMAN	286	L	I	Polymorphism	-
O00410	IPO5_HUMAN	905	Y	C	Polymorphism	-
O00410	IPO5_HUMAN	549	E	K	Polymorphism	-
O00410	IPO5_HUMAN	525	E	K	Polymorphism	-
O00410	IPO5_HUMAN	969	T	I	Polymorphism	-
O00411	RPOM_HUMAN	555	E	A	Polymorphism	-
O00418	EF2K_HUMAN	433	R	W	Polymorphism	-
O00418	EF2K_HUMAN	75	P	A	Polymorphism	-
O00418	EF2K_HUMAN	291	T	M	Unclassified	A colorectal adenocarcinoma sample
O00418	EF2K_HUMAN	23	H	R	Polymorphism	-
O00418	EF2K_HUMAN	361	Q	R	Polymorphism	-
O00418	EF2K_HUMAN	609	D	H	Polymorphism	-
O00421	CCRL2_HUMAN	4	Y	C	Polymorphism	-
O00421	CCRL2_HUMAN	167	F	Y	Polymorphism	-
O00421	CCRL2_HUMAN	243	I	V	Polymorphism	-
O00421	CCRL2_HUMAN	168	V	M	Polymorphism	-
O00423	EMAL1_HUMAN	243	T	A	Disease	Band heterotopia (BH) [MIM:600348]
O00423	EMAL1_HUMAN	377	A	V	Polymorphism	-
O00423	EMAL1_HUMAN	225	W	R	Disease	Band heterotopia (BH) [MIM:600348]
O00423	EMAL1_HUMAN	556	S	P	Polymorphism	-
O00423	EMAL1_HUMAN	552	H	N	Polymorphism	-
O00429	DNM1L_HUMAN	362	G	S	Disease	Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388]
O00429	DNM1L_HUMAN	2	E	A	Disease	Optic atrophy 5 (OPA5) [MIM:610708]
O00429	DNM1L_HUMAN	403	R	C	Disease	Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388]
O00429	DNM1L_HUMAN	192	A	E	Disease	Optic atrophy 5 (OPA5) [MIM:610708]
O00429	DNM1L_HUMAN	426	E	D	Polymorphism	-
O00429	DNM1L_HUMAN	362	G	D	Unclassified	Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388]
O00429	DNM1L_HUMAN	71	S	T	Polymorphism	-
O00429	DNM1L_HUMAN	406	L	S	Disease	Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388]
O00429	DNM1L_HUMAN	36	S	G	Disease	Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388]
O00429	DNM1L_HUMAN	395	A	D	Disease	Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388]
O00443	P3C2A_HUMAN	1415	T	A	Polymorphism	-
O00444	PLK4_HUMAN	146	R	H	Polymorphism	-
O00444	PLK4_HUMAN	86	Y	C	Polymorphism	-
O00444	PLK4_HUMAN	830	E	D	Polymorphism	-
O00444	PLK4_HUMAN	449	N	D	Polymorphism	-
O00444	PLK4_HUMAN	226	A	T	Polymorphism	-
O00444	PLK4_HUMAN	232	S	T	Polymorphism	-
O00444	PLK4_HUMAN	519	W	S	Polymorphism	-
O00444	PLK4_HUMAN	317	P	L	Polymorphism	-
O00445	SYT5_HUMAN	4	E	D	Polymorphism	-
O00445	SYT5_HUMAN	111	R	Q	Polymorphism	-
O00451	GFRA2_HUMAN	462	L	Q	Polymorphism	-
O00458	IFRD1_HUMAN	39	Q	K	Unclassified	-
O00459	P85B_HUMAN	373	G	R	Disease	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387]
O00459	P85B_HUMAN	234	S	R	Polymorphism	-
O00459	P85B_HUMAN	557	D	H	Disease	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387]
O00459	P85B_HUMAN	401	L	P	Disease	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387]
O00459	P85B_HUMAN	313	S	P	Polymorphism	-
O00459	P85B_HUMAN	376	K	E	Unclassified	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387]
O00461	GOLI4_HUMAN	312	A	V	Unclassified	A breast cancer sample
O00462	MANBA_HUMAN	253	V	L	Polymorphism	-
O00462	MANBA_HUMAN	182	R	W	Disease	Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510]
O00462	MANBA_HUMAN	392	G	E	Disease	Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510]
O00462	MANBA_HUMAN	701	T	M	Polymorphism	-
O00462	MANBA_HUMAN	505	S	P	Disease	Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510]
O00462	MANBA_HUMAN	253	V	I	Polymorphism	-
O00463	TRAF5_HUMAN	186	N	H	Polymorphism	-
O00463	TRAF5_HUMAN	120	V	G	Polymorphism	-
O00463	TRAF5_HUMAN	268	H	Y	Polymorphism	-
O00463	TRAF5_HUMAN	358	L	V	Polymorphism	-
O00468	AGRIN_HUMAN	267	T	M	Polymorphism	-
O00468	AGRIN_HUMAN	728	E	V	Polymorphism	-
O00468	AGRIN_HUMAN	76	G	S	Disease	Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
O00468	AGRIN_HUMAN	58	D	N	Polymorphism	-
O00468	AGRIN_HUMAN	852	Q	R	Polymorphism	-
O00468	AGRIN_HUMAN	1734	R	H	Polymorphism	-
O00468	AGRIN_HUMAN	1240	P	L	Polymorphism	-
O00468	AGRIN_HUMAN	1789	D	N	Polymorphism	-
O00468	AGRIN_HUMAN	1709	G	R	Disease	Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
O00468	AGRIN_HUMAN	1088	L	F	Polymorphism	-
O00468	AGRIN_HUMAN	1118	T	K	Polymorphism	-
O00468	AGRIN_HUMAN	1671	R	Q	Polymorphism	-
O00468	AGRIN_HUMAN	1727	V	F	Disease	Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
O00468	AGRIN_HUMAN	1341	G	R	Polymorphism	-
O00468	AGRIN_HUMAN	1698	R	P	Polymorphism	-
O00468	AGRIN_HUMAN	375	A	S	Polymorphism	-
O00468	AGRIN_HUMAN	984	V	M	Polymorphism	-
O00468	AGRIN_HUMAN	1135	Q	R	Polymorphism	-
O00468	AGRIN_HUMAN	1666	V	I	Polymorphism	-
O00468	AGRIN_HUMAN	1875	G	R	Disease	Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
O00468	AGRIN_HUMAN	745	A	V	Polymorphism	-
O00468	AGRIN_HUMAN	1565	Q	H	Polymorphism	-
O00468	AGRIN_HUMAN	1451	P	L	Polymorphism	-
O00468	AGRIN_HUMAN	105	N	I	Disease	Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
O00468	AGRIN_HUMAN	2046	G	V	Polymorphism	-
O00468	AGRIN_HUMAN	1514	A	T	Polymorphism	-
O00468	AGRIN_HUMAN	23	V	L	Polymorphism	-
O00469	PLOD2_HUMAN	608	T	I	Disease	Bruck syndrome 2 (BRKS2) [MIM:609220]
O00469	PLOD2_HUMAN	601	G	V	Disease	Bruck syndrome 2 (BRKS2) [MIM:609220]
O00469	PLOD2_HUMAN	601	G	C	Polymorphism	-
O00469	PLOD2_HUMAN	598	R	H	Disease	Bruck syndrome 2 (BRKS2) [MIM:609220]
O00470	MEIS1_HUMAN	272	R	H	Polymorphism	-
O00471	EXOC5_HUMAN	10	E	D	Polymorphism	-
O00472	ELL2_HUMAN	298	A	T	Polymorphism	-
O00476	NPT4_HUMAN	201	G	R	Polymorphism	-
O00476	NPT4_HUMAN	100	A	T	Polymorphism	-
O00476	NPT4_HUMAN	300	P	L	Polymorphism	-
O00476	NPT4_HUMAN	68	N	H	Polymorphism	-
O00476	NPT4_HUMAN	226	F	S	Polymorphism	-
O00481	BT3A1_HUMAN	282	R	T	Polymorphism	-
O00481	BT3A1_HUMAN	224	S	N	Polymorphism	-
O00481	BT3A1_HUMAN	456	P	T	Polymorphism	-
O00481	BT3A1_HUMAN	15	R	H	Polymorphism	-
O00488	ZN593_HUMAN	6	R	Q	Polymorphism	-
O00499	BIN1_HUMAN	151	D	N	Disease	Myopathy, centronuclear, 2 (CNM2) [MIM:255200]
O00499	BIN1_HUMAN	35	K	N	Disease	Myopathy, centronuclear, 2 (CNM2) [MIM:255200]
O00499	BIN1_HUMAN	24	R	C	Disease	-
O00499	BIN1_HUMAN	234	R	C	Disease	Myopathy, centronuclear, 2 (CNM2) [MIM:255200]
O00499	BIN1_HUMAN	145	R	C	Disease	Myopathy, centronuclear, 2 (CNM2) [MIM:255200]
O00499	BIN1_HUMAN	154	R	Q	Disease	Myopathy, centronuclear, 2 (CNM2) [MIM:255200]
O00505	IMA4_HUMAN	291	P	S	Polymorphism	-
O00506	STK25_HUMAN	64	Q	H	Polymorphism	-
O00507	USP9Y_HUMAN	1060	A	T	Polymorphism	-
O00507	USP9Y_HUMAN	1035	P	S	Polymorphism	-
O00507	USP9Y_HUMAN	211	R	C	Polymorphism	-
O00507	USP9Y_HUMAN	65	E	D	Polymorphism	-
O00507	USP9Y_HUMAN	1705	A	S	Polymorphism	-
O00512	BCL9_HUMAN	782	R	K	Polymorphism	-
O00512	BCL9_HUMAN	671	P	S	Polymorphism	-
O00515	LAD1_HUMAN	155	A	P	Polymorphism	-
O00515	LAD1_HUMAN	243	L	P	Polymorphism	-
O00515	LAD1_HUMAN	56	A	S	Polymorphism	-
O00515	LAD1_HUMAN	323	K	E	Polymorphism	-
O00515	LAD1_HUMAN	503	T	S	Polymorphism	-
O00515	LAD1_HUMAN	279	P	Q	Polymorphism	-
O00519	FAAH1_HUMAN	129	P	T	Polymorphism	-
O00519	FAAH1_HUMAN	345	A	D	Unclassified	A breast cancer sample
O00522	KRIT1_HUMAN	97	F	S	Disease	Cerebral cavernous malformations 1 (CCM1) [MIM:116860]
O00522	KRIT1_HUMAN	569	K	E	Disease	Cerebral cavernous malformations 1 (CCM1) [MIM:116860]
O00526	UPK2_HUMAN	160	T	M	Polymorphism	-
O00526	UPK2_HUMAN	47	A	S	Polymorphism	-
O00533	NCHL1_HUMAN	287	T	A	Polymorphism	-
O00533	NCHL1_HUMAN	411	L	I	Unclassified	A colorectal cancer sample
O00533	NCHL1_HUMAN	1034	I	V	Polymorphism	-
O00533	NCHL1_HUMAN	17	L	F	Polymorphism	-
O00534	VMA5A_HUMAN	205	E	K	Polymorphism	-
O00534	VMA5A_HUMAN	499	S	I	Polymorphism	-
O00534	VMA5A_HUMAN	202	S	G	Polymorphism	-
O00534	VMA5A_HUMAN	757	R	C	Polymorphism	-
O00534	VMA5A_HUMAN	506	R	K	Polymorphism	-
O00534	VMA5A_HUMAN	759	H	R	Polymorphism	-
O00541	PESC_HUMAN	411	A	T	Polymorphism	-
O00541	PESC_HUMAN	264	T	S	Polymorphism	-
O00541	PESC_HUMAN	370	D	H	Polymorphism	-
O00548	DLL1_HUMAN	444	V	M	Polymorphism	-
O00555	CAC1A_HUMAN	1507	A	S	Disease	Epileptic encephalopathy, early infantile, 42 (EIEE42) [MIM:617106]
O00555	CAC1A_HUMAN	1435	W	R	Disease	Epileptic encephalopathy, early infantile, 42 (EIEE42) [MIM:617106]
O00555	CAC1A_HUMAN	256	C	R	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	1104	G	S	Polymorphism	-
O00555	CAC1A_HUMAN	1481	G	R	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	1678	R	C	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	1868	C	R	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	1809	I	L	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	253	H	Y	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	913	P	S	Polymorphism	-
O00555	CAC1A_HUMAN	1402	F	C	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	192	R	Q	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	1172	P	L	Polymorphism	-
O00555	CAC1A_HUMAN	1666	R	W	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	248	Y	C	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	405	A	T	Disease	Spinocerebellar ataxia 6 (SCA6) [MIM:183086]
O00555	CAC1A_HUMAN	1455	V	L	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	1663	R	Q	Disease	Spinocerebellar ataxia 6 (SCA6) [MIM:183086]
O00555	CAC1A_HUMAN	195	R	K	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	2395	P	S	Polymorphism	-
O00555	CAC1A_HUMAN	21	A	V	Polymorphism	-
O00555	CAC1A_HUMAN	287	C	Y	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	665	T	M	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	917	E	D	Polymorphism	-
O00555	CAC1A_HUMAN	500	T	M	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	731	E	A	Polymorphism	-
O00555	CAC1A_HUMAN	992	E	V	Polymorphism	-
O00555	CAC1A_HUMAN	797	M	T	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	1694	V	I	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	101	E	Q	Disease	Epileptic encephalopathy, early infantile, 42 (EIEE42) [MIM:617106]
O00555	CAC1A_HUMAN	582	R	Q	Disease	Spinocerebellar ataxia 6 (SCA6) [MIM:183086]
O00555	CAC1A_HUMAN	293	G	R	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	1660	R	H	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	714	D	E	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	713	V	A	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	1672	R	P	Polymorphism	-
O00555	CAC1A_HUMAN	665	T	M	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	453	A	T	Polymorphism	-
O00555	CAC1A_HUMAN	896	P	R	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	1489	F	S	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	388	E	K	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	2134	R	C	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	1735	H	L	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	218	S	L	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	1492	V	I	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	389	L	F	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	712	A	T	Disease	Epileptic encephalopathy, early infantile, 42 (EIEE42) [MIM:617106]
O00555	CAC1A_HUMAN	582	R	Q	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	1337	D	Y	Disease	Spinocerebellar ataxia 6 (SCA6) [MIM:183086]
O00555	CAC1A_HUMAN	1345	R	Q	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	1682	W	R	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	1014	E	K	Polymorphism	-
O00555	CAC1A_HUMAN	293	G	R	Disease	Spinocerebellar ataxia 6 (SCA6) [MIM:183086]
O00555	CAC1A_HUMAN	637	G	D	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00555	CAC1A_HUMAN	1383	Y	C	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	1334	K	E	Disease	Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555	CAC1A_HUMAN	1755	E	K	Disease	Episodic ataxia 2 (EA2) [MIM:108500]
O00560	SDCB1_HUMAN	69	N	S	Polymorphism	-
O00566	MPP10_HUMAN	140	D	N	Polymorphism	-
O00566	MPP10_HUMAN	639	A	T	Polymorphism	-
O00566	MPP10_HUMAN	634	E	K	Polymorphism	-
O00566	MPP10_HUMAN	229	E	D	Polymorphism	-
O00566	MPP10_HUMAN	69	E	A	Polymorphism	-
O00566	MPP10_HUMAN	115	R	H	Polymorphism	-
O00566	MPP10_HUMAN	425	L	M	Polymorphism	-
O00567	NOP56_HUMAN	576	V	A	Polymorphism	-
O00567	NOP56_HUMAN	121	I	V	Polymorphism	-
O00567	NOP56_HUMAN	475	M	T	Polymorphism	-
O00571	DDX3X_HUMAN	326	R	H	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	362	R	C	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	214	I	T	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	233	A	V	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	294	R	T	Unclassified	A breast cancer sample
O00571	DDX3X_HUMAN	488	R	H	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	351	R	Q	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	514	I	T	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	376	R	C	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	417	Q	P	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	507	I	T	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	300	V	F	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	534	R	H	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	475	R	G	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	509	N	I	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	235	L	P	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	568	P	L	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	392	L	P	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00571	DDX3X_HUMAN	480	R	S	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
O00574	CXCR6_HUMAN	3	E	K	Polymorphism	-
O00574	CXCR6_HUMAN	25	D	A	Unclassified	-
O00584	RNT2_HUMAN	236	R	W	Polymorphism	-
O00584	RNT2_HUMAN	184	C	R	Disease	Leukoencephalopathy, cystic, without megalencephaly (LCWM) [MIM:612951]
O00587	MFNG_HUMAN	302	R	C	Polymorphism	-
O00590	ACKR2_HUMAN	311	L	V	Polymorphism	-
O00590	ACKR2_HUMAN	41	V	A	Polymorphism	-
O00590	ACKR2_HUMAN	373	Y	S	Polymorphism	-
O00590	ACKR2_HUMAN	248	A	V	Polymorphism	-
O00591	GBRP_HUMAN	416	H	R	Unclassified	A breast cancer sample
O00591	GBRP_HUMAN	391	F	L	Polymorphism	-
O00592	PODXL_HUMAN	126	T	P	Polymorphism	-
O00592	PODXL_HUMAN	60	T	R	Polymorphism	-
O00592	PODXL_HUMAN	298	P	A	Polymorphism	-
O00592	PODXL_HUMAN	112	G	S	Polymorphism	-
O00592	PODXL_HUMAN	194	S	L	Polymorphism	-
O00592	PODXL_HUMAN	358	V	I	Polymorphism	-
O00602	FCN1_HUMAN	93	R	Q	Polymorphism	-
O00602	FCN1_HUMAN	126	Y	H	Polymorphism	-
O00602	FCN1_HUMAN	175	Y	C	Unclassified	A colorectal cancer sample
O00622	CCN1_HUMAN	334	R	W	Polymorphism	-
O00623	PEX12_HUMAN	34	R	S	Disease	Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:614859]
O00623	PEX12_HUMAN	320	S	F	Disease	Peroxisome biogenesis disorder 3B (PBD3B) [MIM:266510]
O00623	PEX12_HUMAN	245	L	I	Polymorphism	-
O00625	PIR_HUMAN	228	V	A	Polymorphism	-
O00626	CCL22_HUMAN	2	D	A	Polymorphism	-
O00628	PEX7_HUMAN	218	A	V	Disease	Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100]
O00628	PEX7_HUMAN	217	G	R	Unclassified	Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100]
O00628	PEX7_HUMAN	14	T	P	Disease	Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879]
O00634	NET3_HUMAN	425	P	S	Polymorphism	-
O00635	TRI38_HUMAN	421	G	R	Polymorphism	-
O00712	NFIB_HUMAN	126	K	E	Disease	Macrocephaly, acquired, with impaired intellectual development (MACID) [MIM:618286]
O00712	NFIB_HUMAN	132	L	P	Disease	Macrocephaly, acquired, with impaired intellectual development (MACID) [MIM:618286]
O00712	NFIB_HUMAN	114	K	T	Disease	Macrocephaly, acquired, with impaired intellectual development (MACID) [MIM:618286]
O00712	NFIB_HUMAN	356	S	L	Unclassified	-
O00716	E2F3_HUMAN	389	D	N	Polymorphism	-
O00716	E2F3_HUMAN	344	G	R	Polymorphism	-
O00744	WN10B_HUMAN	301	P	S	Polymorphism	-
O00744	WN10B_HUMAN	332	R	W	Disease	Split-hand/foot malformation 6 (SHFM6) [MIM:225300]
O00744	WN10B_HUMAN	211	R	Q	Disease	Tooth agenesis, selective, 8 (STHAG8) [MIM:617073]
O00744	WN10B_HUMAN	256	C	Y	Unclassified	-
O00744	WN10B_HUMAN	77	H	Y	Polymorphism	-
O00744	WN10B_HUMAN	285	I	T	Polymorphism	-
O00748	EST2_HUMAN	206	R	H	Polymorphism	-
O00748	EST2_HUMAN	34	R	W	Polymorphism	-
O00754	MA2B1_HUMAN	413	N	S	Polymorphism	-
O00754	MA2B1_HUMAN	750	R	W	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	379	P	L	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	809	L	P	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	801	G	D	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	669	P	L	Polymorphism	-
O00754	MA2B1_HUMAN	248	P	L	Polymorphism	-
O00754	MA2B1_HUMAN	278	L	V	Polymorphism	-
O00754	MA2B1_HUMAN	714	W	R	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	481	A	S	Polymorphism	-
O00754	MA2B1_HUMAN	95	A	P	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	200	H	L	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	420	G	V	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	197	P	R	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	318	S	L	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	891	G	R	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	282	P	S	Polymorphism	-
O00754	MA2B1_HUMAN	453	S	F	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	565	L	P	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	263	P	L	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	800	G	W	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	390	G	C	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	457	V	E	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	352	L	P	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	1000	F	S	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	950	R	P	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	501	C	S	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	745	T	R	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	451	G	C	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	892	L	P	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	956	L	R	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	356	P	R	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	200	H	N	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	55	C	F	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	229	R	W	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	159	D	N	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	445	H	Y	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	453	S	Y	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	72	H	L	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	800	G	R	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	916	R	C	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	312	T	I	Polymorphism	-
O00754	MA2B1_HUMAN	99	Y	H	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	355	T	P	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	916	R	H	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	402	E	K	Unclassified	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	74	D	E	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00754	MA2B1_HUMAN	250	A	S	Polymorphism	-
O00754	MA2B1_HUMAN	337	R	Q	Polymorphism	-
O00754	MA2B1_HUMAN	202	R	P	Disease	Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]
O00755	WNT7A_HUMAN	102	R	W	Unclassified	Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]
O00755	WNT7A_HUMAN	72	E	K	Disease	Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]
O00755	WNT7A_HUMAN	222	R	W	Disease	Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]
O00755	WNT7A_HUMAN	109	A	T	Disease	Fuhrmann syndrome (FUHRS) [MIM:228930]
O00755	WNT7A_HUMAN	292	R	C	Disease	Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]
O00757	F16P2_HUMAN	86	V	L	Polymorphism	-
O00762	UBE2C_HUMAN	25	G	D	Polymorphism	-
O00763	ACACB_HUMAN	2141	V	I	Polymorphism	-
O00763	ACACB_HUMAN	651	A	T	Polymorphism	-
O00763	ACACB_HUMAN	552	I	V	Polymorphism	-
O00763	ACACB_HUMAN	193	R	L	Unclassified	A pancreatic ductal adenocarcinoma sample
O00767	ACOD_HUMAN	224	M	L	Polymorphism	-
O14490	DLGP1_HUMAN	816	R	Q	Polymorphism	-
O14497	ARI1A_HUMAN	2087	G	R	Polymorphism	-
O14497	ARI1A_HUMAN	2089	L	P	Unclassified	-
O14497	ARI1A_HUMAN	1907	I	F	Polymorphism	-
O14497	ARI1A_HUMAN	1658	R	W	Polymorphism	-
O14497	ARI1A_HUMAN	120	P	S	Polymorphism	-
O14497	ARI1A_HUMAN	1020	R	K	Unclassified	-
O14498	ISLR_HUMAN	183	D	N	Unclassified	A colorectal cancer sample
O14508	SOCS2_HUMAN	52	S	N	Polymorphism	-
O14513	NCKP5_HUMAN	977	I	T	Polymorphism	-
O14513	NCKP5_HUMAN	1093	N	Y	Polymorphism	-
O14513	NCKP5_HUMAN	250	R	Q	Polymorphism	-
O14513	NCKP5_HUMAN	600	S	T	Polymorphism	-
O14513	NCKP5_HUMAN	1260	P	Q	Polymorphism	-
O14513	NCKP5_HUMAN	1403	V	A	Polymorphism	-
O14513	NCKP5_HUMAN	937	V	I	Polymorphism	-
O14520	AQP7_HUMAN	63	K	T	Polymorphism	-
O14520	AQP7_HUMAN	264	G	V	Polymorphism	-
O14520	AQP7_HUMAN	12	R	C	Polymorphism	-
O14520	AQP7_HUMAN	38	L	V	Polymorphism	-
O14520	AQP7_HUMAN	59	V	L	Polymorphism	-
O14521	DHSD_HUMAN	81	P	L	Disease	Paragangliomas 1 (PGL1) [MIM:168000]
O14521	DHSD_HUMAN	92	D	Y	Disease	Paragangliomas 1 (PGL1) [MIM:168000]
O14521	DHSD_HUMAN	92	D	Y	Disease	Pheochromocytoma (PCC) [MIM:171300]
O14521	DHSD_HUMAN	145	H	N	Unclassified	-
O14521	DHSD_HUMAN	114	Y	C	Disease	Paragangliomas 1 (PGL1) [MIM:168000]
O14521	DHSD_HUMAN	12	G	S	Polymorphism	-
O14521	DHSD_HUMAN	148	G	V	Disease	Paragangliomas 1 (PGL1) [MIM:168000]
O14521	DHSD_HUMAN	81	P	L	Disease	Pheochromocytoma (PCC) [MIM:171300]
O14521	DHSD_HUMAN	69	E	K	Disease	Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]
O14521	DHSD_HUMAN	50	H	R	Polymorphism	-
O14521	DHSD_HUMAN	102	H	L	Disease	Paragangliomas 1 (PGL1) [MIM:168000]
O14521	DHSD_HUMAN	92	D	G	Disease	Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]
O14521	DHSD_HUMAN	139	L	P	Disease	Paragangliomas 1 (PGL1) [MIM:168000]
O14522	PTPRT_HUMAN	648	V	G	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	248	F	S	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	280	Y	H	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	209	A	T	Unclassified	Some colorectal cancers
O14522	PTPRT_HUMAN	29	A	P	Polymorphism	-
O14522	PTPRT_HUMAN	605	T	M	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	395	I	V	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	771	R	I	Unclassified	A lung cancer
O14522	PTPRT_HUMAN	1106	N	I	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	453	R	C	Unclassified	A gastric cancer
O14522	PTPRT_HUMAN	412	Y	F	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	510	N	K	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	218	K	T	Unclassified	A gastric cancer
O14522	PTPRT_HUMAN	1096	A	P	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	1247	V	M	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	965	Q	K	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	1190	R	W	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	76	M	V	Polymorphism	-
O14522	PTPRT_HUMAN	707	A	T	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	1346	T	M	Unclassified	-
O14522	PTPRT_HUMAN	74	F	S	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	1324	R	L	Unclassified	A lung cancer
O14522	PTPRT_HUMAN	708	L	P	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	707	A	V	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	1213	P	L	Unclassified	An acute myeloid leukemia sample
O14522	PTPRT_HUMAN	1329	Y	F	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	1237	M	L	Unclassified	A colorectal cancer
O14522	PTPRT_HUMAN	905	D	G	Unclassified	A colorectal cancer
O14523	C2C2L_HUMAN	413	R	W	Polymorphism	-
O14524	NEMP1_HUMAN	217	I	V	Polymorphism	-
O14525	ASTN1_HUMAN	932	H	R	Polymorphism	-
O14525	ASTN1_HUMAN	1278	R	G	Polymorphism	-
O14525	ASTN1_HUMAN	942	H	Q	Polymorphism	-
O14525	ASTN1_HUMAN	1270	G	R	Polymorphism	-
O14529	CUX2_HUMAN	1472	V	L	Polymorphism	-
O14529	CUX2_HUMAN	590	E	K	Disease	Epileptic encephalopathy, early infantile, 67 (EIEE67) [MIM:618141]
O14530	TXND9_HUMAN	38	Q	R	Polymorphism	-
O14530	TXND9_HUMAN	14	L	Q	Polymorphism	-
O14543	SOCS3_HUMAN	125	H	Y	Polymorphism	-
O14556	G3PT_HUMAN	110	D	N	Polymorphism	-
O14558	HSPB6_HUMAN	20	P	L	Polymorphism	-
O14576	DC1I1_HUMAN	373	H	L	Unclassified	-
O14576	DC1I1_HUMAN	582	N	T	Polymorphism	-
O14578	CTRO_HUMAN	106	G	V	Disease	Microcephaly 17, primary, autosomal recessive (MCPH17) [MIM:617090]
O14578	CTRO_HUMAN	126	K	Q	Disease	Microcephaly 17, primary, autosomal recessive (MCPH17) [MIM:617090]
O14578	CTRO_HUMAN	230	D	V	Disease	Microcephaly 17, primary, autosomal recessive (MCPH17) [MIM:617090]
O14578	CTRO_HUMAN	9	R	Q	Polymorphism	-
O14578	CTRO_HUMAN	7	G	E	Polymorphism	-
O14578	CTRO_HUMAN	183	L	F	Polymorphism	-
O14579	COPE_HUMAN	117	T	I	Polymorphism	-
O14579	COPE_HUMAN	13	S	C	Polymorphism	-
O14581	OR7AH_HUMAN	37	V	A	Polymorphism	-
O14581	OR7AH_HUMAN	46	I	T	Polymorphism	-
O14581	OR7AH_HUMAN	69	A	S	Polymorphism	-
O14581	OR7AH_HUMAN	237	A	T	Polymorphism	-
O14593	RFXK_HUMAN	48	E	D	Polymorphism	-
O14593	RFXK_HUMAN	251	Q	E	Polymorphism	-
O14593	RFXK_HUMAN	195	L	P	Disease	Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]
O14594	NCAN_HUMAN	70	A	T	Polymorphism	-
O14594	NCAN_HUMAN	92	P	S	Polymorphism	-
O14594	NCAN_HUMAN	1254	A	V	Polymorphism	-
O14610	GBGT2_HUMAN	11	L	F	Polymorphism	-
O14613	BORG1_HUMAN	176	N	S	Polymorphism	-
O14613	BORG1_HUMAN	191	I	F	Polymorphism	-
O14617	AP3D1_HUMAN	1072	I	V	Polymorphism	-
O14617	AP3D1_HUMAN	541	G	R	Polymorphism	-
O14618	CCS_HUMAN	163	R	W	Polymorphism	-
O14625	CXL11_HUMAN	55	N	S	Polymorphism	-
O14626	GP171_HUMAN	283	I	V	Polymorphism	-
O14633	LCE2B_HUMAN	83	R	Q	Polymorphism	-
O14633	LCE2B_HUMAN	51	I	S	Polymorphism	-
O14638	ENPP3_HUMAN	744	N	H	Polymorphism	-
O14638	ENPP3_HUMAN	620	V	M	Polymorphism	-
O14638	ENPP3_HUMAN	786	S	N	Polymorphism	-
O14639	ABLM1_HUMAN	434	P	T	Polymorphism	-
O14639	ABLM1_HUMAN	637	R	G	Polymorphism	-
O14641	DVL2_HUMAN	282	I	T	Unclassified	-
O14645	IDLC_HUMAN	65	A	V	Polymorphism	-
O14645	IDLC_HUMAN	120	I	M	Unclassified	A colorectal cancer sample
O14646	CHD1_HUMAN	618	R	Q	Disease	Pilarowski-Bjornsson syndrome (PILBOS) [MIM:617682]
O14646	CHD1_HUMAN	460	R	K	Disease	Pilarowski-Bjornsson syndrome (PILBOS) [MIM:617682]
O14646	CHD1_HUMAN	264	P	T	Polymorphism	-
O14646	CHD1_HUMAN	1708	R	Q	Disease	Pilarowski-Bjornsson syndrome (PILBOS) [MIM:617682]
O14646	CHD1_HUMAN	141	R	G	Disease	Pilarowski-Bjornsson syndrome (PILBOS) [MIM:617682]
O14647	CHD2_HUMAN	1574	G	A	Polymorphism	-
O14647	CHD2_HUMAN	548	W	R	Disease	Epileptic encephalopathy, childhood-onset (EEOC) [MIM:615369]
O14647	CHD2_HUMAN	823	L	P	Disease	Epileptic encephalopathy, childhood-onset (EEOC) [MIM:615369]
O14649	KCNK3_HUMAN	192	Y	C	Disease	Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
O14649	KCNK3_HUMAN	8	T	K	Disease	Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
O14649	KCNK3_HUMAN	221	V	L	Disease	Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
O14649	KCNK3_HUMAN	182	E	K	Disease	Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
O14649	KCNK3_HUMAN	97	G	R	Disease	Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
O14649	KCNK3_HUMAN	203	G	D	Disease	Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
O14653	GOSR2_HUMAN	67	R	K	Polymorphism	-
O14653	GOSR2_HUMAN	144	G	W	Disease	Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018]
O14654	IRS4_HUMAN	557	G	R	Unclassified	A colorectal cancer sample
O14654	IRS4_HUMAN	879	H	D	Polymorphism	-
O14654	IRS4_HUMAN	508	N	K	Polymorphism	-
O14654	IRS4_HUMAN	34	L	F	Polymorphism	-
O14654	IRS4_HUMAN	215	G	E	Unclassified	A colorectal cancer sample
O14654	IRS4_HUMAN	1230	D	Y	Polymorphism	-
O14654	IRS4_HUMAN	20	A	V	Unclassified	A colorectal cancer sample
O14656	TOR1A_HUMAN	216	D	H	Polymorphism	-
O14656	TOR1A_HUMAN	205	F	I	Disease	Dystonia 1, torsion, autosomal dominant (DYT1) [MIM:128100]
O14656	TOR1A_HUMAN	288	R	Q	Disease	Dystonia 1, torsion, autosomal dominant (DYT1) [MIM:128100]
O14656	TOR1A_HUMAN	264	D	H	Polymorphism	-
O14657	TOR1B_HUMAN	54	A	T	Polymorphism	-
O14668	TMG1_HUMAN	60	F	I	Unclassified	A breast cancer sample
O14669	TMG2_HUMAN	22	P	S	Polymorphism	-
O14669	TMG2_HUMAN	116	G	C	Polymorphism	-
O14672	ADA10_HUMAN	524	C	Y	Disease	Reticulate acropigmentation of Kitamura (RAK) [MIM:615537]
O14672	ADA10_HUMAN	176	H	Y	Unclassified	A cutaneous metastatic melanoma sample
O14672	ADA10_HUMAN	170	Q	H	Disease	Alzheimer disease 18 (AD18) [MIM:615590]
O14672	ADA10_HUMAN	181	R	G	Disease	Alzheimer disease 18 (AD18) [MIM:615590]
O14672	ADA10_HUMAN	139	P	S	Disease	Reticulate acropigmentation of Kitamura (RAK) [MIM:615537]
O14678	ABCD4_HUMAN	172	V	I	Polymorphism	-
O14678	ABCD4_HUMAN	319	Y	C	Disease	Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]
O14678	ABCD4_HUMAN	368	E	K	Polymorphism	-
O14678	ABCD4_HUMAN	304	A	T	Polymorphism	-
O14678	ABCD4_HUMAN	350	T	R	Polymorphism	-
O14681	EI24_HUMAN	30	D	G	Unclassified	Some patients with early onset breast cancer
O14681	EI24_HUMAN	197	H	Y	Unclassified	Some patients with early onset breast cancer
O14681	EI24_HUMAN	199	V	H	Unclassified	Some patients with early onset breast cancer
O14681	EI24_HUMAN	195	P	W	Unclassified	Some patients with early onset breast cancer
O14681	EI24_HUMAN	196	I	D	Unclassified	Some patients with early onset breast cancer
O14681	EI24_HUMAN	319	T	A	Unclassified	Some patients with early onset breast cancer
O14682	ENC1_HUMAN	256	I	S	Polymorphism	-
O14686	KMT2D_HUMAN	1471	C	Y	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	2841	P	T	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1445	C	G	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	476	A	T	Polymorphism	-
O14686	KMT2D_HUMAN	1453	H	R	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5189	G	R	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5464	T	M	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1522	Q	R	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5428	G	D	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	4420	R	Q	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	2557	P	L	Polymorphism	-
O14686	KMT2D_HUMAN	3897	L	S	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1526	C	F	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	3876	L	R	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5047	A	V	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5214	R	C	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	2652	M	L	Polymorphism	-
O14686	KMT2D_HUMAN	1471	C	R	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1388	R	L	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5030	R	C	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1258	R	Q	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1424	C	F	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5109	C	F	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	3398	M	V	Polymorphism	-
O14686	KMT2D_HUMAN	813	P	L	Polymorphism	-
O14686	KMT2D_HUMAN	2382	P	S	Polymorphism	-
O14686	KMT2D_HUMAN	5224	R	H	Polymorphism	-
O14686	KMT2D_HUMAN	337	S	L	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	4010	S	P	Polymorphism	-
O14686	KMT2D_HUMAN	4353	P	L	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	647	P	Q	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5340	R	Q	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1430	C	R	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5214	R	H	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1718	A	V	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5034	F	V	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1418	L	M	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	692	P	T	Polymorphism	-
O14686	KMT2D_HUMAN	5154	R	Q	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5210	Y	C	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5351	R	Q	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5432	R	W	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5028	D	E	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	543	S	L	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	3419	D	G	Polymorphism	-
O14686	KMT2D_HUMAN	5498	S	F	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	170	Q	L	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1192	V	M	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5340	R	L	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5481	C	Y	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5059	H	P	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1423	R	C	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5040	D	G	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5179	R	H	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	170	Q	H	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1417	M	V	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	2460	R	C	Polymorphism	-
O14686	KMT2D_HUMAN	1376	M	R	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	1380	C	R	Unclassified	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5048	R	C	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5471	R	T	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	5048	R	H	Disease	Kabuki syndrome 1 (KABUK1) [MIM:147920]
O14686	KMT2D_HUMAN	4357	R	S	Polymorphism	-
O14717	TRDMT_HUMAN	101	H	Y	Polymorphism	-
O14730	RIOK3_HUMAN	447	S	L	Polymorphism	-
O14730	RIOK3_HUMAN	336	L	V	Polymorphism	-
O14730	RIOK3_HUMAN	441	R	Q	Polymorphism	-
O14732	IMPA2_HUMAN	88	A	T	Polymorphism	-
O14733	MP2K7_HUMAN	162	R	C	Unclassified	A colorectal adenocarcinoma sample
O14733	MP2K7_HUMAN	162	R	H	Unclassified	A colorectal adenocarcinoma sample
O14733	MP2K7_HUMAN	138	R	C	Polymorphism	-
O14733	MP2K7_HUMAN	259	L	F	Polymorphism	-
O14733	MP2K7_HUMAN	118	N	S	Polymorphism	-
O14733	MP2K7_HUMAN	195	A	T	Polymorphism	-
O14735	CDIPT_HUMAN	199	R	C	Polymorphism	-
O14745	NHRF1_HUMAN	68	E	A	Disease	Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]
O14745	NHRF1_HUMAN	153	R	Q	Disease	Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]
O14745	NHRF1_HUMAN	225	E	K	Disease	Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]
O14745	NHRF1_HUMAN	110	L	V	Disease	Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]
O14746	TERT_HUMAN	522	R	K	Unclassified	-
O14746	TERT_HUMAN	412	H	Y	Disease	Aplastic anemia (AA) [MIM:609135]
O14746	TERT_HUMAN	785	P	L	Disease	Aplastic anemia (AA) [MIM:609135]
O14746	TERT_HUMAN	901	R	W	Disease	Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989]
O14746	TERT_HUMAN	279	A	T	Polymorphism	-
O14746	TERT_HUMAN	902	K	N	Disease	Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) [MIM:613989]
O14746	TERT_HUMAN	1110	T	M	Polymorphism	-
O14746	TERT_HUMAN	65	P	A	Polymorphism	-
O14746	TERT_HUMAN	299	V	M	Polymorphism	-
O14746	TERT_HUMAN	865	R	H	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	694	V	M	Disease	Aplastic anemia (AA) [MIM:609135]
O14746	TERT_HUMAN	948	S	R	Polymorphism	-
O14746	TERT_HUMAN	412	H	Y	Disease	Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989]
O14746	TERT_HUMAN	1127	F	L	Disease	Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) [MIM:613989]
O14746	TERT_HUMAN	694	V	M	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	902	K	R	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	1025	V	F	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	631	R	Q	Disease	Aplastic anemia (AA) [MIM:609135]
O14746	TERT_HUMAN	1090	V	M	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	55	L	Q	Polymorphism	-
O14746	TERT_HUMAN	772	Y	C	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	570	K	N	Disease	Aplastic anemia (AA) [MIM:609135]
O14746	TERT_HUMAN	170	V	M	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	682	G	D	Disease	Aplastic anemia (AA) [MIM:609135]
O14746	TERT_HUMAN	867	V	M	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	1062	A	T	Polymorphism	-
O14746	TERT_HUMAN	202	A	T	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	721	P	R	Disease	Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989]
O14746	TERT_HUMAN	979	R	W	Disease	Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) [MIM:613989]
O14746	TERT_HUMAN	923	P	L	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	726	T	M	Disease	Aplastic anemia (AA) [MIM:609135]
O14746	TERT_HUMAN	704	P	S	Disease	Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989]
O14746	TERT_HUMAN	791	V	I	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	841	L	F	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	716	A	T	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	412	H	Y	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]
O14746	TERT_HUMAN	811	R	C	Disease	Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989]
O14746	TERT_HUMAN	202	A	T	Disease	Aplastic anemia (AA) [MIM:609135]
O14757	CHK1_HUMAN	223	E	V	Polymorphism	-
O14757	CHK1_HUMAN	312	V	M	Polymorphism	-
O14757	CHK1_HUMAN	471	I	V	Polymorphism	-
O14757	CHK1_HUMAN	156	R	Q	Polymorphism	-
O14763	TR10B_HUMAN	191	V	A	Polymorphism	-
O14763	TR10B_HUMAN	32	P	L	Polymorphism	-
O14763	TR10B_HUMAN	67	A	V	Polymorphism	-
O14764	GBRD_HUMAN	220	R	H	Polymorphism	-
O14764	GBRD_HUMAN	177	E	A	Disease	Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM:613060]
O14764	GBRD_HUMAN	370	V	I	Unclassified	-
O14764	GBRD_HUMAN	62	P	S	Polymorphism	-
O14764	GBRD_HUMAN	220	R	C	Unclassified	Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM:613060]
O14772	FPGT_HUMAN	461	P	L	Polymorphism	-
O14773	TPP1_HUMAN	100	Q	R	Polymorphism	-
O14773	TPP1_HUMAN	475	S	L	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	339	R	Q	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	287	I	N	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	548	W	R	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	175	R	H	Polymorphism	-
O14773	TPP1_HUMAN	278	Q	P	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	206	R	C	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	365	C	Y	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	447	R	H	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	428	K	N	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	77	G	R	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	382	S	R	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	266	R	Q	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	365	C	R	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	389	G	E	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	127	R	Q	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	206	R	H	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	504	N	Y	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	286	N	S	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	62	S	L	Polymorphism	-
O14773	TPP1_HUMAN	422	Q	H	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	544	P	S	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	209	Y	H	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	343	E	K	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	153	S	P	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	62	S	T	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	473	G	R	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	185	R	C	Polymorphism	-
O14773	TPP1_HUMAN	385	V	D	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	454	A	E	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	202	P	L	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	501	G	C	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	481	F	C	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	278	Q	R	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	482	G	R	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	448	A	V	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	277	V	M	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	284	G	V	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	353	T	P	Disease	Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]
O14773	TPP1_HUMAN	466	V	G	Disease	Spinocerebellar ataxia, autosomal recessive, 7 (SCAR7) [MIM:609270]
O14775	GNB5_HUMAN	123	S	L	Disease	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (LADCI) [MIM:617182]
O14775	GNB5_HUMAN	213	A	V	Polymorphism	-
O14777	NDC80_HUMAN	66	S	A	Polymorphism	-
O14777	NDC80_HUMAN	348	E	D	Polymorphism	-
O14777	NDC80_HUMAN	605	A	P	Polymorphism	-
O14782	KIF3C_HUMAN	370	Q	R	Polymorphism	-
O14782	KIF3C_HUMAN	571	R	Q	Disease	-
O14786	NRP1_HUMAN	179	V	A	Polymorphism	-
O14786	NRP1_HUMAN	733	V	I	Polymorphism	-
O14786	NRP1_HUMAN	561	F	L	Polymorphism	-
O14787	TNPO2_HUMAN	370	W	C	Unclassified	-
O14788	TNF11_HUMAN	199	M	K	Disease	Osteopetrosis, autosomal recessive 2 (OPTB2) [MIM:259710]
O14791	APOL1_HUMAN	228	M	I	Polymorphism	-
O14791	APOL1_HUMAN	188	I	T	Unclassified	A breast cancer sample
O14791	APOL1_HUMAN	384	I	M	Disease	Focal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551]
O14791	APOL1_HUMAN	342	S	G	Disease	Focal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551]
O14791	APOL1_HUMAN	150	E	K	Polymorphism	-
O14791	APOL1_HUMAN	255	R	K	Polymorphism	-
O14791	APOL1_HUMAN	337	D	N	Polymorphism	-
O14792	HS3S1_HUMAN	22	P	T	Polymorphism	-
O14792	HS3S1_HUMAN	295	K	R	Polymorphism	-
O14793	GDF8_HUMAN	55	A	T	Polymorphism	-
O14793	GDF8_HUMAN	153	K	R	Polymorphism	-
O14793	GDF8_HUMAN	348	I	T	Polymorphism	-
O14793	GDF8_HUMAN	371	R	G	Polymorphism	-
O14795	UN13B_HUMAN	209	P	S	Unclassified	A colorectal cancer sample
O14795	UN13B_HUMAN	238	D	E	Polymorphism	-
O14795	UN13B_HUMAN	1232	E	D	Polymorphism	-
O14796	SH21B_HUMAN	122	N	K	Polymorphism	-
O14796	SH21B_HUMAN	36	I	T	Polymorphism	-
O14798	TR10C_HUMAN	229	I	T	Polymorphism	-
O14798	TR10C_HUMAN	199	T	N	Polymorphism	-
O14802	RPC1_HUMAN	387	A	G	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	558	F	L	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	91	P	L	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	636	S	Y	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	897	I	N	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	724	C	Y	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	1261	E	K	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	1005	R	C	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	672	G	E	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	775	N	I	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	852	M	V	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	602	S	R	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	582	R	L	Polymorphism	-
O14802	RPC1_HUMAN	310	W	C	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	372	D	N	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	804	I	T	Disease	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
O14802	RPC1_HUMAN	713	K	N	Polymorphism	-
O14804	TAAR5_HUMAN	272	T	M	Polymorphism	-
O14804	TAAR5_HUMAN	330	R	C	Polymorphism	-
O14810	CPLX1_HUMAN	128	L	M	Unclassified	Epileptic encephalopathy, early infantile, 63 (EIEE63) [MIM:617976]
O14813	PHX2A_HUMAN	256	P	Q	Polymorphism	-
O14813	PHX2A_HUMAN	72	A	V	Disease	Fibrosis of extraocular muscles, congenital, 2 (CFEOM2) [MIM:602078]
O14815	CAN9_HUMAN	239	A	T	Polymorphism	-
O14815	CAN9_HUMAN	122	S	R	Polymorphism	-
O14815	CAN9_HUMAN	234	I	T	Polymorphism	-
O14815	CAN9_HUMAN	522	R	W	Polymorphism	-
O14815	CAN9_HUMAN	322	K	Q	Polymorphism	-
O14815	CAN9_HUMAN	164	D	N	Polymorphism	-
O14815	CAN9_HUMAN	277	R	W	Polymorphism	-
O14815	CAN9_HUMAN	342	E	K	Polymorphism	-
O14815	CAN9_HUMAN	327	H	Q	Polymorphism	-
O14815	CAN9_HUMAN	102	A	V	Polymorphism	-
O14815	CAN9_HUMAN	611	M	I	Polymorphism	-
O14815	CAN9_HUMAN	458	R	W	Polymorphism	-
O14817	TSN4_HUMAN	67	I	M	Unclassified	A breast cancer sample
O14818	PSA7_HUMAN	112	A	D	Unclassified	-
O14827	RGRF2_HUMAN	1216	D	E	Unclassified	A breast cancer sample
O14827	RGRF2_HUMAN	538	D	N	Unclassified	A breast cancer sample
O14827	RGRF2_HUMAN	713	L	W	Polymorphism	-
O14827	RGRF2_HUMAN	114	R	H	Unclassified	A colorectal cancer sample
O14828	SCAM3_HUMAN	235	V	A	Polymorphism	-
O14828	SCAM3_HUMAN	242	V	D	Polymorphism	-
O14828	SCAM3_HUMAN	239	I	N	Polymorphism	-
O14828	SCAM3_HUMAN	38	L	R	Polymorphism	-
O14829	PPE1_HUMAN	367	K	T	Polymorphism	-
O14829	PPE1_HUMAN	443	G	S	Polymorphism	-
O14830	PPE2_HUMAN	394	V	L	Polymorphism	-
O14830	PPE2_HUMAN	412	E	K	Polymorphism	-
O14830	PPE2_HUMAN	120	S	R	Polymorphism	-
O14830	PPE2_HUMAN	575	S	C	Polymorphism	-
O14830	PPE2_HUMAN	481	M	L	Polymorphism	-
O14830	PPE2_HUMAN	553	R	K	Polymorphism	-
O14832	PAHX_HUMAN	245	R	Q	Polymorphism	-
O14832	PAHX_HUMAN	175	H	R	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	199	I	F	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	197	E	Q	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	269	N	H	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	83	N	Y	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	176	Q	K	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	29	P	S	Polymorphism	-
O14832	PAHX_HUMAN	177	D	G	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	215	G	S	Polymorphism	-
O14832	PAHX_HUMAN	220	H	Y	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	275	R	Q	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	204	G	S	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	275	R	W	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	193	W	R	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	173	P	S	Disease	Refsum disease (RD) [MIM:266500]
O14832	PAHX_HUMAN	257	F	S	Disease	Refsum disease (RD) [MIM:266500]
O14836	TR13B_HUMAN	251	P	L	Polymorphism	-
O14836	TR13B_HUMAN	56	H	N	Unclassified	-
O14836	TR13B_HUMAN	104	C	R	Disease	Immunoglobulin A deficiency 2 (IGAD2) [MIM:609529]
O14836	TR13B_HUMAN	181	A	G	Disease	Immunodeficiency, common variable, 2 (CVID2) [MIM:240500]
O14836	TR13B_HUMAN	202	R	H	Disease	Immunodeficiency, common variable, 2 (CVID2) [MIM:240500]
O14836	TR13B_HUMAN	104	C	R	Disease	Immunodeficiency, common variable, 2 (CVID2) [MIM:240500]
O14841	OPLA_HUMAN	284	S	R	Polymorphism	-
O14842	FFAR1_HUMAN	211	R	H	Polymorphism	-
O14843	FFAR3_HUMAN	44	Q	R	Polymorphism	-
O14843	FFAR3_HUMAN	256	A	V	Polymorphism	-
O14843	FFAR3_HUMAN	227	L	V	Polymorphism	-
O14843	FFAR3_HUMAN	45	R	C	Polymorphism	-
O14843	FFAR3_HUMAN	174	R	W	Polymorphism	-
O14843	FFAR3_HUMAN	346	S	N	Polymorphism	-
O14862	AIM2_HUMAN	32	E	K	Polymorphism	-
O14862	AIM2_HUMAN	304	C	Y	Polymorphism	-
O14867	BACH1_HUMAN	314	S	P	Polymorphism	-
O14874	BCKD_HUMAN	389	L	P	Disease	Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923]
O14874	BCKD_HUMAN	224	R	P	Disease	Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923]
O14874	BCKD_HUMAN	174	R	G	Disease	Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923]
O14880	MGST3_HUMAN	15	G	C	Polymorphism	-
O14880	MGST3_HUMAN	48	P	S	Polymorphism	-
O14896	IRF6_HUMAN	424	S	L	Disease	Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896	IRF6_HUMAN	45	R	Q	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	320	K	E	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	100	T	A	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	84	R	H	Disease	Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896	IRF6_HUMAN	347	C	F	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	250	R	Q	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	273	Q	R	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	369	F	S	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	66	K	T	Disease	Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896	IRF6_HUMAN	64	T	I	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	396	P	S	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	89	K	E	Disease	Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896	IRF6_HUMAN	6	R	C	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	98	D	H	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	349	E	V	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	345	L	P	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	321	V	M	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	22	L	P	Disease	Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896	IRF6_HUMAN	90	S	G	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	294	L	P	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	369	F	S	Disease	Non-syndromic orofacial cleft 6 (OFC6) [MIM:608864]
O14896	IRF6_HUMAN	374	C	W	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	84	R	C	Disease	Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896	IRF6_HUMAN	76	P	S	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	84	R	G	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	325	G	E	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	388	K	E	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	16	A	V	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	88	N	H	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	39	P	A	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	274	V	I	Polymorphism	-
O14896	IRF6_HUMAN	297	V	I	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	339	R	I	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	61	A	G	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	60	W	G	Disease	Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896	IRF6_HUMAN	251	L	P	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	84	R	L	Disease	Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896	IRF6_HUMAN	400	R	W	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	22	L	P	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	70	G	R	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	430	D	N	Disease	Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896	IRF6_HUMAN	18	V	M	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	2	A	V	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896	IRF6_HUMAN	82	Q	K	Disease	Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896	IRF6_HUMAN	18	V	A	Disease	Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14901	KLF11_HUMAN	62	Q	R	Polymorphism	-
O14901	KLF11_HUMAN	347	A	S	Disease	Maturity-onset diabetes of the young 7 (MODY7) [MIM:610508]
O14901	KLF11_HUMAN	220	T	M	Disease	Maturity-onset diabetes of the young 7 (MODY7) [MIM:610508]
O14901	KLF11_HUMAN	378	S	F	Polymorphism	-
O14904	WNT9A_HUMAN	260	A	T	Polymorphism	-
O14905	WNT9B_HUMAN	106	M	T	Polymorphism	-
O14907	TX1B3_HUMAN	33	I	T	Unclassified	-
O14920	IKKB_HUMAN	734	F	L	Polymorphism	-
O14920	IKKB_HUMAN	526	R	Q	Polymorphism	-
O14920	IKKB_HUMAN	369	Q	R	Polymorphism	-
O14920	IKKB_HUMAN	203	V	I	Disease	Immunodeficiency 15A (IMD15A) [MIM:618204]
O14920	IKKB_HUMAN	710	A	T	Polymorphism	-
O14920	IKKB_HUMAN	360	A	S	Unclassified	Breast cancer samples
O14920	IKKB_HUMAN	554	R	W	Polymorphism	-
O14920	IKKB_HUMAN	736	A	T	Polymorphism	-
O14921	RGS13_HUMAN	150	L	F	Polymorphism	-
O14924	RGS12_HUMAN	277	M	L	Polymorphism	-
O14924	RGS12_HUMAN	225	I	V	Polymorphism	-
O14924	RGS12_HUMAN	1124	N	S	Polymorphism	-
O14929	HAT1_HUMAN	317	A	P	Unclassified	A colorectal cancer sample
O14931	NCTR3_HUMAN	103	A	T	Polymorphism	-
O14931	NCTR3_HUMAN	174	R	S	Polymorphism	-
O14936	CSKP_HUMAN	28	R	L	Disease	FG syndrome 4 (FGS4) [MIM:300422]
O14936	CSKP_HUMAN	96	G	V	Unclassified	A lung large cell carcinoma sample
O14936	CSKP_HUMAN	710	D	G	Disease	Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749]
O14936	CSKP_HUMAN	396	P	S	Disease	Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749]
O14936	CSKP_HUMAN	268	Y	H	Disease	Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749]
O14939	PLD2_HUMAN	821	G	S	Polymorphism	-
O14939	PLD2_HUMAN	807	Q	E	Unclassified	A breast cancer sample
O14939	PLD2_HUMAN	804	A	T	Polymorphism	-
O14939	PLD2_HUMAN	172	R	C	Polymorphism	-
O14939	PLD2_HUMAN	577	T	I	Polymorphism	-
O14939	PLD2_HUMAN	632	E	G	Polymorphism	-
O14939	PLD2_HUMAN	821	G	R	Polymorphism	-
O14944	EREG_HUMAN	147	R	Q	Polymorphism	-
O14944	EREG_HUMAN	42	G	A	Unclassified	A breast cancer sample
O14948	TFEC_HUMAN	146	L	V	Unclassified	A colorectal cancer sample
O14948	TFEC_HUMAN	100	G	S	Polymorphism	-
O14948	TFEC_HUMAN	6	Q	H	Polymorphism	-
O14949	QCR8_HUMAN	45	S	F	Disease	Mitochondrial complex III deficiency, nuclear 4 (MC3DN4) [MIM:615159]
O14950	ML12B_HUMAN	141	E	G	Polymorphism	-
O14958	CASQ2_HUMAN	180	K	R	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938]
O14958	CASQ2_HUMAN	244	H	R	Polymorphism	-
O14958	CASQ2_HUMAN	33	R	Q	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938]
O14958	CASQ2_HUMAN	335	N	K	Polymorphism	-
O14958	CASQ2_HUMAN	66	T	A	Polymorphism	-
O14958	CASQ2_HUMAN	76	V	M	Polymorphism	-
O14958	CASQ2_HUMAN	307	D	H	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938]
O14958	CASQ2_HUMAN	167	L	H	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938]
O14960	LECT2_HUMAN	58	I	V	Polymorphism	-
O14964	HGS_HUMAN	733	A	S	Polymorphism	-
O14964	HGS_HUMAN	400	E	D	Polymorphism	-
O14964	HGS_HUMAN	7	T	S	Polymorphism	-
O14965	AURKA_HUMAN	11	G	R	Polymorphism	-
O14965	AURKA_HUMAN	50	P	L	Polymorphism	-
O14965	AURKA_HUMAN	174	V	M	Unclassified	A metastatic melanoma sample
O14965	AURKA_HUMAN	57	V	I	Polymorphism	-
O14965	AURKA_HUMAN	104	S	L	Polymorphism	-
O14965	AURKA_HUMAN	373	M	V	Polymorphism	-
O14965	AURKA_HUMAN	31	F	I	Polymorphism	-
O14965	AURKA_HUMAN	155	S	R	Unclassified	A colorectal adenocarcinoma sample
O14967	CLGN_HUMAN	160	A	S	Polymorphism	-
O14967	CLGN_HUMAN	290	V	I	Polymorphism	-
O14967	CLGN_HUMAN	352	R	W	Polymorphism	-
O14974	MYPT1_HUMAN	305	T	P	Polymorphism	-
O14974	MYPT1_HUMAN	734	K	N	Polymorphism	-
O14974	MYPT1_HUMAN	116	C	W	Polymorphism	-
O14975	S27A2_HUMAN	48	K	Q	Polymorphism	-
O14976	GAK_HUMAN	1168	S	N	Polymorphism	-
O14976	GAK_HUMAN	877	Q	R	Polymorphism	-
O14976	GAK_HUMAN	1137	P	L	Polymorphism	-
O14976	GAK_HUMAN	787	D	Y	Polymorphism	-
O14976	GAK_HUMAN	1265	K	R	Polymorphism	-
O14976	GAK_HUMAN	1120	Q	H	Polymorphism	-
O14976	GAK_HUMAN	144	S	L	Polymorphism	-
O14976	GAK_HUMAN	580	V	M	Polymorphism	-
O14976	GAK_HUMAN	962	G	D	Unclassified	A lung neuroendocrine carcinoma sample
O14976	GAK_HUMAN	1297	D	N	Polymorphism	-
O14976	GAK_HUMAN	1051	T	M	Polymorphism	-
O14978	ZN263_HUMAN	646	R	Q	Polymorphism	-
O14978	ZN263_HUMAN	534	V	I	Polymorphism	-
O14978	ZN263_HUMAN	310	C	S	Polymorphism	-
O14979	HNRDL_HUMAN	378	D	H	Disease	Muscular dystrophy, limb-girdle, autosomal dominant 3 (LGMDD3) [MIM:609115]
O14979	HNRDL_HUMAN	378	D	N	Disease	Muscular dystrophy, limb-girdle, autosomal dominant 3 (LGMDD3) [MIM:609115]
O14983	AT2A1_HUMAN	789	P	L	Disease	Brody myopathy (BRM) [MIM:601003]
O14986	PI51B_HUMAN	415	A	T	Polymorphism	-
O14994	SYN3_HUMAN	470	S	N	Polymorphism	-
O15013	ARHGA_HUMAN	227	N	H	Unclassified	-
O15013	ARHGA_HUMAN	700	V	I	Polymorphism	-
O15013	ARHGA_HUMAN	357	T	I	Disease	Slowed nerve conduction velocity (SNCV) [MIM:608236]
O15013	ARHGA_HUMAN	725	V	I	Polymorphism	-
O15015	ZN646_HUMAN	98	A	V	Polymorphism	-
O15015	ZN646_HUMAN	1318	R	Q	Polymorphism	-
O15015	ZN646_HUMAN	1477	G	D	Polymorphism	-
O15015	ZN646_HUMAN	921	G	A	Polymorphism	-
O15015	ZN646_HUMAN	1249	R	W	Polymorphism	-
O15015	ZN646_HUMAN	1337	N	I	Unclassified	A breast cancer sample
O15015	ZN646_HUMAN	774	I	M	Polymorphism	-
O15015	ZN646_HUMAN	1788	T	M	Polymorphism	-
O15015	ZN646_HUMAN	327	E	G	Polymorphism	-
O15018	PDZD2_HUMAN	1178	E	G	Polymorphism	-
O15018	PDZD2_HUMAN	1274	T	A	Polymorphism	-
O15018	PDZD2_HUMAN	1425	T	M	Polymorphism	-
O15018	PDZD2_HUMAN	1258	Q	K	Polymorphism	-
O15018	PDZD2_HUMAN	2247	R	Q	Polymorphism	-
O15018	PDZD2_HUMAN	1649	A	V	Polymorphism	-
O15018	PDZD2_HUMAN	1343	D	E	Polymorphism	-
O15020	SPTN2_HUMAN	774	E	K	Unclassified	A colorectal cancer sample
O15020	SPTN2_HUMAN	253	L	P	Disease	Spinocerebellar ataxia 5 (SCA5) [MIM:600224]
O15020	SPTN2_HUMAN	1034	V	A	Polymorphism	-
O15020	SPTN2_HUMAN	480	R	W	Disease	Spinocerebellar ataxia 5 (SCA5) [MIM:600224]
O15020	SPTN2_HUMAN	825	S	G	Polymorphism	-
O15020	SPTN2_HUMAN	835	E	K	Polymorphism	-
O15021	MAST4_HUMAN	2467	E	D	Unclassified	A lung squamous cell carcinoma sample
O15021	MAST4_HUMAN	1954	R	W	Polymorphism	-
O15021	MAST4_HUMAN	2290	S	C	Polymorphism	-
O15021	MAST4_HUMAN	920	Q	R	Polymorphism	-
O15021	MAST4_HUMAN	77	A	P	Polymorphism	-
O15021	MAST4_HUMAN	2198	P	L	Polymorphism	-
O15027	SC16A_HUMAN	1039	R	C	Polymorphism	-
O15031	PLXB2_HUMAN	823	I	V	Polymorphism	-
O15031	PLXB2_HUMAN	318	K	E	Polymorphism	-
O15034	RIMB2_HUMAN	593	P	R	Polymorphism	-
O15034	RIMB2_HUMAN	888	D	N	Polymorphism	-
O15037	KHNYN_HUMAN	261	K	T	Polymorphism	-
O15037	KHNYN_HUMAN	270	W	L	Polymorphism	-
O15040	TCPR2_HUMAN	320	V	I	Polymorphism	-
O15040	TCPR2_HUMAN	439	P	S	Polymorphism	-
O15040	TCPR2_HUMAN	386	A	T	Polymorphism	-
O15040	TCPR2_HUMAN	683	I	V	Polymorphism	-
O15041	SEM3E_HUMAN	208	R	P	Polymorphism	-
O15041	SEM3E_HUMAN	619	R	C	Polymorphism	-
O15041	SEM3E_HUMAN	717	I	V	Polymorphism	-
O15041	SEM3E_HUMAN	703	S	L	Unclassified	-
O15047	SET1A_HUMAN	639	D	N	Polymorphism	-
O15050	TRNK1_HUMAN	153	P	L	Polymorphism	-
O15050	TRNK1_HUMAN	1090	E	G	Polymorphism	-
O15050	TRNK1_HUMAN	703	P	L	Polymorphism	-
O15054	KDM6B_HUMAN	203	P	A	Polymorphism	-
O15054	KDM6B_HUMAN	308	S	L	Polymorphism	-
O15055	PER2_HUMAN	5	A	S	Polymorphism	-
O15055	PER2_HUMAN	903	V	I	Polymorphism	-
O15055	PER2_HUMAN	823	L	V	Unclassified	A breast cancer sample
O15055	PER2_HUMAN	662	S	G	Disease	Advanced sleep phase syndrome, familial, 1 (FASPS1) [MIM:604348]
O15055	PER2_HUMAN	729	V	I	Polymorphism	-
O15055	PER2_HUMAN	1244	G	E	Polymorphism	-
O15055	PER2_HUMAN	949	F	Y	Polymorphism	-
O15056	SYNJ2_HUMAN	1468	E	G	Polymorphism	-
O15060	ZBT39_HUMAN	689	P	A	Polymorphism	-
O15061	SYNEM_HUMAN	1462	F	C	Polymorphism	-
O15061	SYNEM_HUMAN	1077	S	L	Polymorphism	-
O15061	SYNEM_HUMAN	1345	G	A	Polymorphism	-
O15061	SYNEM_HUMAN	1067	R	P	Polymorphism	-
O15061	SYNEM_HUMAN	355	R	W	Polymorphism	-
O15061	SYNEM_HUMAN	462	G	S	Polymorphism	-
O15061	SYNEM_HUMAN	612	E	A	Polymorphism	-
O15061	SYNEM_HUMAN	1386	G	E	Polymorphism	-
O15061	SYNEM_HUMAN	272	A	V	Polymorphism	-
O15061	SYNEM_HUMAN	1130	G	S	Polymorphism	-
O15061	SYNEM_HUMAN	567	P	L	Polymorphism	-
O15061	SYNEM_HUMAN	976	Q	R	Polymorphism	-
O15061	SYNEM_HUMAN	761	P	L	Polymorphism	-
O15061	SYNEM_HUMAN	1059	P	L	Polymorphism	-
O15061	SYNEM_HUMAN	946	R	W	Polymorphism	-
O15061	SYNEM_HUMAN	338	R	W	Polymorphism	-
O15061	SYNEM_HUMAN	330	V	I	Polymorphism	-
O15062	ZBTB5_HUMAN	300	D	G	Polymorphism	-
O15067	PUR4_HUMAN	621	L	P	Polymorphism	-
O15067	PUR4_HUMAN	481	F	Y	Polymorphism	-
O15067	PUR4_HUMAN	19	P	S	Polymorphism	-
O15067	PUR4_HUMAN	367	P	L	Polymorphism	-
O15069	NACAD_HUMAN	1152	C	F	Polymorphism	-
O15069	NACAD_HUMAN	1105	D	E	Polymorphism	-
O15069	NACAD_HUMAN	438	D	E	Polymorphism	-
O15069	NACAD_HUMAN	591	K	E	Polymorphism	-
O15069	NACAD_HUMAN	498	V	A	Polymorphism	-
O15072	ATS3_HUMAN	291	I	T	Disease	Hennekam lymphangiectasia-lymphedema syndrome 3 (HKLLS3) [MIM:618154]
O15072	ATS3_HUMAN	138	R	K	Polymorphism	-
O15072	ATS3_HUMAN	1074	S	P	Polymorphism	-
O15072	ATS3_HUMAN	168	L	P	Disease	Hennekam lymphangiectasia-lymphedema syndrome 3 (HKLLS3) [MIM:618154]
O15075	DCLK1_HUMAN	46	T	M	Unclassified	A gastric adenocarcinoma sample
O15075	DCLK1_HUMAN	93	R	Q	Unclassified	A gastric adenocarcinoma sample
O15075	DCLK1_HUMAN	292	R	H	Polymorphism	-
O15075	DCLK1_HUMAN	291	S	F	Unclassified	A gastric adenocarcinoma sample
O15075	DCLK1_HUMAN	29	G	C	Unclassified	A gastric adenocarcinoma sample
O15078	CE290_HUMAN	2263	S	G	Unclassified	-
O15078	CE290_HUMAN	1566	A	P	Polymorphism	-
O15078	CE290_HUMAN	534	E	K	Disease	Joubert syndrome 5 (JBTS5) [MIM:610188]
O15078	CE290_HUMAN	1237	R	H	Polymorphism	-
O15078	CE290_HUMAN	277	E	Q	Polymorphism	-
O15078	CE290_HUMAN	7	W	C	Disease	Senior-Loken syndrome 6 (SLSN6) [MIM:610189]
O15078	CE290_HUMAN	906	L	W	Polymorphism	-
O15078	CE290_HUMAN	2134	I	T	Unclassified	Joubert syndrome 5 (JBTS5) [MIM:610188]
O15078	CE290_HUMAN	838	K	E	Polymorphism	-
O15078	CE290_HUMAN	2228	N	K	Polymorphism	-
O15078	CE290_HUMAN	1694	L	P	Polymorphism	-
O15078	CE290_HUMAN	7	W	C	Disease	Joubert syndrome 5 (JBTS5) [MIM:610188]
O15078	CE290_HUMAN	1836	I	V	Polymorphism	-
O15078	CE290_HUMAN	2210	R	C	Polymorphism	-
O15078	CE290_HUMAN	664	D	G	Polymorphism	-
O15083	ERC2_HUMAN	542	N	S	Polymorphism	-
O15085	ARHGB_HUMAN	1416	S	G	Polymorphism	-
O15085	ARHGB_HUMAN	1427	H	R	Polymorphism	-
O15091	MRPP3_HUMAN	437	N	S	Polymorphism	-
O15111	IKKA_HUMAN	268	V	I	Polymorphism	-
O15111	IKKA_HUMAN	155	V	A	Polymorphism	-
O15111	IKKA_HUMAN	126	S	C	Polymorphism	-
O15117	FYB1_HUMAN	51	P	L	Polymorphism	-
O15117	FYB1_HUMAN	672	V	F	Polymorphism	-
O15117	FYB1_HUMAN	332	K	R	Polymorphism	-
O15118	NPC1_HUMAN	858	I	V	Polymorphism	-
O15118	NPC1_HUMAN	642	M	I	Polymorphism	-
O15118	NPC1_HUMAN	333	G	D	Polymorphism	-
O15118	NPC1_HUMAN	945	D	N	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1059	R	Q	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	510	H	P	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	518	R	Q	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	509	Y	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1061	I	T	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	576	K	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	889	V	M	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	473	S	P	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	472	L	P	Polymorphism	-
O15118	NPC1_HUMAN	1034	G	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	943	I	M	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	757	V	A	Polymorphism	-
O15118	NPC1_HUMAN	1062	A	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1012	G	D	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	961	N	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	968	N	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	615	R	C	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	928	Q	P	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	518	R	W	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	512	H	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	389	R	C	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	433	P	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	479	C	Y	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1023	V	G	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1015	G	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	971	V	G	Polymorphism	-
O15118	NPC1_HUMAN	1220	I	T	Polymorphism	-
O15118	NPC1_HUMAN	511	T	M	Polymorphism	-
O15118	NPC1_HUMAN	1216	A	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	404	R	Q	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	521	A	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	899	Y	D	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	574	T	K	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	976	C	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	986	G	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	543	P	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1036	T	K	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1054	A	T	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1016	H	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1087	F	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1088	Y	C	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	381	W	C	Polymorphism	-
O15118	NPC1_HUMAN	1205	T	K	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	640	G	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	948	D	N	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	873	V	A	Polymorphism	-
O15118	NPC1_HUMAN	404	R	W	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	849	S	I	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	910	G	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	958	R	Q	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	950	V	M	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	664	V	M	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	789	R	G	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1174	A	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1213	L	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	451	E	K	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	954	S	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	940	S	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	927	A	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	537	F	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	890	Y	C	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1137	N	I	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	378	V	A	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	992	G	A	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1004	S	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	992	G	W	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1186	R	H	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	63	C	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	934	R	Q	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1236	G	E	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1224	F	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	401	P	T	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	874	D	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	660	G	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	942	W	C	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	605	A	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	612	E	D	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1049	A	V	Polymorphism	-
O15118	NPC1_HUMAN	74	C	Y	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	231	V	G	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	862	Q	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	996	M	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1240	G	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1205	T	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1150	N	K	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	926	A	T	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	929	L	P	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	272	M	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	865	S	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1089	E	K	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	871	Y	C	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	380	L	F	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	978	R	C	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	222	N	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	789	R	C	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1249	S	G	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	948	D	H	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1140	G	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	631	M	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1094	I	T	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	237	P	S	Polymorphism	-
O15118	NPC1_HUMAN	615	R	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	917	D	Y	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1066	T	N	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	242	D	H	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	166	P	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	151	S	G	Polymorphism	-
O15118	NPC1_HUMAN	1156	N	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	956	C	Y	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1142	M	T	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	404	R	P	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1165	V	M	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	727	V	F	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1168	C	Y	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	888	P	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	215	H	R	Polymorphism	-
O15118	NPC1_HUMAN	1035	A	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	474	P	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	137	T	M	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	113	C	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	825	Y	C	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1007	P	A	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1266	R	Q	Polymorphism	-
O15118	NPC1_HUMAN	944	D	N	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1097	D	N	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	763	F	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	434	P	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	177	C	G	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1156	N	I	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1036	T	M	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	670	C	W	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	691	P	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	700	D	N	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	248	G	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	992	G	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1167	F	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	959	V	E	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	388	A	P	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	745	A	E	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	775	Q	P	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	177	C	Y	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1213	L	F	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	92	Q	R	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	247	C	Y	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	703	F	S	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	684	L	F	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	652	S	W	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	724	L	P	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	242	D	N	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	434	P	S	Polymorphism	-
O15118	NPC1_HUMAN	742	E	K	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	958	R	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	948	D	Y	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1212	V	L	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	1189	E	G	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	673	G	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	372	R	W	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	754	M	K	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	666	S	N	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	767	A	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	695	L	V	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15118	NPC1_HUMAN	734	S	I	Disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]
O15119	TBX3_HUMAN	149	Y	S	Disease	Ulnar-mammary syndrome (UMS) [MIM:181450]
O15119	TBX3_HUMAN	143	L	P	Disease	Ulnar-mammary syndrome (UMS) [MIM:181450]
O15120	PLCB_HUMAN	228	L	P	Disease	Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
O15120	PLCB_HUMAN	136	G	R	Disease	Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
O15120	PLCB_HUMAN	239	A	V	Disease	Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
O15123	ANGP2_HUMAN	333	V	I	Polymorphism	-
O15130	NPFF_HUMAN	88	W	R	Polymorphism	-
O15131	IMA6_HUMAN	316	R	S	Unclassified	A breast cancer sample
O15131	IMA6_HUMAN	45	F	L	Unclassified	A breast cancer sample
O15143	ARC1B_HUMAN	238	A	T	Unclassified	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (PLTEID) [MIM:617718]
O15143	ARC1B_HUMAN	37	K	N	Polymorphism	-
O15143	ARC1B_HUMAN	105	A	V	Unclassified	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (PLTEID) [MIM:617718]
O15146	MUSK_HUMAN	38	D	E	Disease	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325]
O15146	MUSK_HUMAN	100	T	M	Polymorphism	-
O15146	MUSK_HUMAN	605	M	I	Disease	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325]
O15146	MUSK_HUMAN	629	L	F	Polymorphism	-
O15146	MUSK_HUMAN	835	M	V	Disease	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325]
O15146	MUSK_HUMAN	344	P	R	Disease	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325]
O15146	MUSK_HUMAN	222	N	S	Polymorphism	-
O15146	MUSK_HUMAN	644	V	A	Polymorphism	-
O15146	MUSK_HUMAN	664	N	S	Polymorphism	-
O15146	MUSK_HUMAN	829	V	L	Polymorphism	-
O15146	MUSK_HUMAN	575	I	T	Disease	Fetal akinesia deformation sequence 1 (FADS1) [MIM:208150]
O15146	MUSK_HUMAN	107	G	E	Polymorphism	-
O15146	MUSK_HUMAN	413	M	I	Polymorphism	-
O15146	MUSK_HUMAN	159	S	G	Polymorphism	-
O15146	MUSK_HUMAN	790	V	M	Disease	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325]
O15146	MUSK_HUMAN	696	P	L	Polymorphism	-
O15146	MUSK_HUMAN	819	N	S	Unclassified	A lung neuroendocrine carcinoma sample
O15146	MUSK_HUMAN	727	A	V	Disease	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325]
O15146	MUSK_HUMAN	27	A	G	Polymorphism	-
O15146	MUSK_HUMAN	858	R	H	Polymorphism	-
O15146	MUSK_HUMAN	782	E	D	Polymorphism	-
O15151	MDM4_HUMAN	406	T	I	Polymorphism	-
O15151	MDM4_HUMAN	175	I	T	Polymorphism	-
O15160	RPAC1_HUMAN	109	R	H	Disease	Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]
O15160	RPAC1_HUMAN	94	V	A	Disease	Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]
O15160	RPAC1_HUMAN	132	G	D	Disease	Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]
O15160	RPAC1_HUMAN	26	T	I	Disease	Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]
O15160	RPAC1_HUMAN	279	R	W	Disease	Treacher Collins syndrome 3 (TCS3) [MIM:248390]
O15160	RPAC1_HUMAN	191	R	Q	Disease	Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]
O15160	RPAC1_HUMAN	279	R	Q	Disease	Treacher Collins syndrome 3 (TCS3) [MIM:248390]
O15160	RPAC1_HUMAN	324	E	K	Disease	Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]
O15160	RPAC1_HUMAN	65	M	V	Disease	Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]
O15160	RPAC1_HUMAN	32	N	I	Disease	Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]
O15160	RPAC1_HUMAN	146	C	R	Disease	Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]
O15160	RPAC1_HUMAN	74	N	S	Disease	Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]
O15160	RPAC1_HUMAN	262	I	T	Disease	Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]
O15162	PLS1_HUMAN	262	H	Y	Polymorphism	-
O15164	TIF1A_HUMAN	762	S	N	Polymorphism	-
O15164	TIF1A_HUMAN	403	T	N	Unclassified	A lung squamous cell carcinoma sample
O15164	TIF1A_HUMAN	1009	R	S	Polymorphism	-
O15164	TIF1A_HUMAN	796	N	S	Polymorphism	-
O15164	TIF1A_HUMAN	320	I	T	Unclassified	An ovarian serous carcinoma sample
O15169	AXIN1_HUMAN	345	P	L	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
O15169	AXIN1_HUMAN	841	R	Q	Polymorphism	-
O15169	AXIN1_HUMAN	650	G	S	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
O15169	AXIN1_HUMAN	425	G	S	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
O15169	AXIN1_HUMAN	106	L	R	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
O15178	TBXT_HUMAN	171	H	R	Disease	Sacral agenesis with vertebral anomalies (SAVA) [MIM:615709]
O15178	TBXT_HUMAN	356	G	S	Polymorphism	-
O15178	TBXT_HUMAN	402	E	K	Polymorphism	-
O15178	TBXT_HUMAN	358	V	I	Polymorphism	-
O15178	TBXT_HUMAN	367	V	M	Polymorphism	-
O15178	TBXT_HUMAN	369	N	S	Polymorphism	-
O15178	TBXT_HUMAN	177	G	D	Polymorphism	-
O15182	CETN3_HUMAN	10	V	L	Polymorphism	-
O15194	CTDSL_HUMAN	121	S	P	Polymorphism	-
O15194	CTDSL_HUMAN	132	V	G	Polymorphism	-
O15194	CTDSL_HUMAN	127	N	S	Polymorphism	-
O15195	VILL_HUMAN	740	L	F	Polymorphism	-
O15195	VILL_HUMAN	610	F	L	Polymorphism	-
O15195	VILL_HUMAN	798	R	Q	Polymorphism	-
O15197	EPHB6_HUMAN	282	P	H	Polymorphism	-
O15197	EPHB6_HUMAN	360	D	N	Unclassified	A colorectal cancer sample
O15197	EPHB6_HUMAN	719	R	Q	Unclassified	A colorectal cancer sample
O15197	EPHB6_HUMAN	309	R	Q	Polymorphism	-
O15197	EPHB6_HUMAN	603	A	P	Unclassified	A colorectal cancer sample
O15197	EPHB6_HUMAN	813	R	H	Polymorphism	-
O15197	EPHB6_HUMAN	499	R	Q	Polymorphism	-
O15197	EPHB6_HUMAN	930	D	G	Unclassified	A colorectal cancer sample
O15197	EPHB6_HUMAN	662	A	V	Polymorphism	-
O15197	EPHB6_HUMAN	221	A	V	Polymorphism	-
O15197	EPHB6_HUMAN	282	P	R	Polymorphism	-
O15197	EPHB6_HUMAN	875	E	K	Unclassified	A glioblastoma multiforme sample
O15197	EPHB6_HUMAN	170	S	T	Polymorphism	-
O15197	EPHB6_HUMAN	324	S	A	Polymorphism	-
O15197	EPHB6_HUMAN	332	S	L	Polymorphism	-
O15197	EPHB6_HUMAN	743	P	S	Unclassified	An ovarian mucinous carcinoma sample
O15197	EPHB6_HUMAN	993	I	V	Polymorphism	-
O15197	EPHB6_HUMAN	122	G	S	Polymorphism	-
O15198	SMAD9_HUMAN	43	K	E	Disease	Pulmonary hypertension, primary, 2 (PPH2) [MIM:615342]
O15204	ADEC1_HUMAN	444	N	S	Polymorphism	-
O15204	ADEC1_HUMAN	121	M	T	Polymorphism	-
O15205	UBD_HUMAN	95	S	P	Polymorphism	-
O15205	UBD_HUMAN	51	L	S	Polymorphism	-
O15205	UBD_HUMAN	99	A	G	Polymorphism	-
O15205	UBD_HUMAN	162	C	F	Polymorphism	-
O15205	UBD_HUMAN	120	E	K	Polymorphism	-
O15205	UBD_HUMAN	160	C	S	Polymorphism	-
O15205	UBD_HUMAN	68	I	T	Polymorphism	-
O15209	ZBT22_HUMAN	250	G	A	Polymorphism	-
O15209	ZBT22_HUMAN	310	T	A	Polymorphism	-
O15211	RGL2_HUMAN	598	P	L	Polymorphism	-
O15211	RGL2_HUMAN	705	G	E	Polymorphism	-
O15213	WDR46_HUMAN	124	S	Y	Polymorphism	-
O15213	WDR46_HUMAN	94	T	A	Polymorphism	-
O15213	WDR46_HUMAN	341	V	A	Polymorphism	-
O15217	GSTA4_HUMAN	100	L	P	Polymorphism	-
O15217	GSTA4_HUMAN	163	T	A	Polymorphism	-
O15218	GP182_HUMAN	349	C	R	Polymorphism	-
O15228	GNPAT_HUMAN	211	R	C	Disease	Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765]
O15228	GNPAT_HUMAN	211	R	H	Disease	Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765]
O15228	GNPAT_HUMAN	495	V	I	Polymorphism	-
O15228	GNPAT_HUMAN	586	Y	H	Polymorphism	-
O15228	GNPAT_HUMAN	519	D	G	Disease	Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765]
O15229	KMO_HUMAN	452	R	C	Polymorphism	-
O15230	LAMA5_HUMAN	3079	R	W	Polymorphism	-
O15230	LAMA5_HUMAN	1900	V	M	Polymorphism	-
O15230	LAMA5_HUMAN	401	T	A	Polymorphism	-
O15230	LAMA5_HUMAN	1807	F	S	Polymorphism	-
O15230	LAMA5_HUMAN	1671	T	M	Polymorphism	-
O15230	LAMA5_HUMAN	2226	R	H	Polymorphism	-
O15230	LAMA5_HUMAN	1717	H	Y	Polymorphism	-
O15230	LAMA5_HUMAN	889	V	M	Polymorphism	-
O15230	LAMA5_HUMAN	1258	M	T	Polymorphism	-
O15230	LAMA5_HUMAN	2062	D	N	Polymorphism	-
O15230	LAMA5_HUMAN	2053	R	H	Polymorphism	-
O15230	LAMA5_HUMAN	2036	H	R	Polymorphism	-
O15230	LAMA5_HUMAN	1667	R	W	Polymorphism	-
O15230	LAMA5_HUMAN	1908	A	T	Polymorphism	-
O15230	LAMA5_HUMAN	1367	K	E	Polymorphism	-
O15230	LAMA5_HUMAN	1434	G	A	Polymorphism	-
O15232	MATN3_HUMAN	303	T	M	Polymorphism	-
O15232	MATN3_HUMAN	192	I	N	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	134	E	K	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	245	V	M	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	70	R	H	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	120	T	M	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	194	V	D	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	218	Y	N	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	219	A	D	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	304	C	S	Disease	Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3) [MIM:608728]
O15232	MATN3_HUMAN	121	R	W	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	128	A	P	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	105	F	S	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	252	E	K	Polymorphism	-
O15232	MATN3_HUMAN	173	A	D	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	231	K	N	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	195	T	K	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	209	R	P	Disease	Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]
O15232	MATN3_HUMAN	11	P	S	Polymorphism	-
O15235	RT12_HUMAN	8	H	R	Polymorphism	-
O15239	NDUA1_HUMAN	53	R	C	Unclassified	A colorectal cancer sample
O15239	NDUA1_HUMAN	8	G	R	Disease	Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) [MIM:301020]
O15239	NDUA1_HUMAN	37	R	S	Disease	Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) [MIM:301020]
O15239	NDUA1_HUMAN	32	G	R	Polymorphism	-
O15244	S22A2_HUMAN	270	S	A	Polymorphism	-
O15244	S22A2_HUMAN	54	P	S	Polymorphism	-
O15244	S22A2_HUMAN	297	A	G	Polymorphism	-
O15244	S22A2_HUMAN	201	T	M	Polymorphism	-
O15244	S22A2_HUMAN	432	K	Q	Polymorphism	-
O15244	S22A2_HUMAN	463	R	K	Polymorphism	-
O15244	S22A2_HUMAN	400	R	C	Polymorphism	-
O15244	S22A2_HUMAN	165	M	I	Polymorphism	-
O15245	S22A1_HUMAN	341	P	L	Polymorphism	-
O15245	S22A1_HUMAN	401	G	S	Polymorphism	-
O15245	S22A1_HUMAN	465	G	R	Polymorphism	-
O15245	S22A1_HUMAN	41	F	L	Polymorphism	-
O15245	S22A1_HUMAN	189	S	L	Polymorphism	-
O15245	S22A1_HUMAN	283	P	L	Polymorphism	-
O15245	S22A1_HUMAN	408	M	V	Polymorphism	-
O15245	S22A1_HUMAN	440	M	I	Polymorphism	-
O15245	S22A1_HUMAN	220	G	V	Polymorphism	-
O15245	S22A1_HUMAN	88	C	R	Polymorphism	-
O15245	S22A1_HUMAN	342	R	H	Polymorphism	-
O15245	S22A1_HUMAN	85	L	F	Polymorphism	-
O15245	S22A1_HUMAN	160	L	F	Polymorphism	-
O15245	S22A1_HUMAN	488	R	M	Polymorphism	-
O15245	S22A1_HUMAN	287	R	G	Polymorphism	-
O15245	S22A1_HUMAN	461	V	I	Polymorphism	-
O15245	S22A1_HUMAN	14	S	F	Polymorphism	-
O15245	S22A1_HUMAN	61	R	C	Polymorphism	-
O15247	CLIC2_HUMAN	101	H	Q	Disease	Mental retardation, X-linked, syndromic, 32 (MRXS32) [MIM:300886]
O15254	ACOX3_HUMAN	34	E	A	Polymorphism	-
O15254	ACOX3_HUMAN	497	D	N	Polymorphism	-
O15255	CXX1_HUMAN	152	S	W	Polymorphism	-
O15259	NPHP1_HUMAN	5	R	L	Polymorphism	-
O15259	NPHP1_HUMAN	342	G	R	Disease	Nephronophthisis 1 (NPHP1) [MIM:256100]
O15264	MK13_HUMAN	300	A	T	Polymorphism	-
O15264	MK13_HUMAN	282	A	V	Polymorphism	-
O15264	MK13_HUMAN	41	S	L	Polymorphism	-
O15265	ATX7_HUMAN	663	P	S	Polymorphism	-
O15265	ATX7_HUMAN	862	V	M	Polymorphism	-
O15265	ATX7_HUMAN	573	I	V	Polymorphism	-
O15265	ATX7_HUMAN	264	K	R	Polymorphism	-
O15266	SHOX_HUMAN	173	R	C	Disease	Leri-Weill dyschondrosteosis (LWD) [MIM:127300]
O15266	SHOX_HUMAN	153	R	L	Disease	Leri-Weill dyschondrosteosis (LWD) [MIM:127300]
O15266	SHOX_HUMAN	168	R	W	Disease	Langer mesomelic dysplasia (LMD) [MIM:249700]
O15266	SHOX_HUMAN	132	L	V	Disease	Leri-Weill dyschondrosteosis (LWD) [MIM:127300]
O15269	SPTC1_HUMAN	151	R	L	Polymorphism	-
O15269	SPTC1_HUMAN	387	G	A	Polymorphism	-
O15269	SPTC1_HUMAN	352	A	V	Disease	Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]
O15269	SPTC1_HUMAN	331	S	Y	Disease	-
O15269	SPTC1_HUMAN	239	R	W	Unclassified	A breast cancer sample
O15269	SPTC1_HUMAN	133	C	W	Disease	Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]
O15269	SPTC1_HUMAN	133	C	Y	Disease	Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]
O15269	SPTC1_HUMAN	144	V	D	Disease	Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]
O15269	SPTC1_HUMAN	310	A	G	Unclassified	-
O15269	SPTC1_HUMAN	331	S	F	Disease	Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]
O15270	SPTC2_HUMAN	359	V	M	Disease	Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]
O15270	SPTC2_HUMAN	504	I	F	Disease	Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]
O15270	SPTC2_HUMAN	183	R	W	Disease	Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]
O15270	SPTC2_HUMAN	182	A	P	Disease	Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]
O15270	SPTC2_HUMAN	382	G	V	Disease	Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]
O15273	TELT_HUMAN	70	R	W	Disease	Cardiomyopathy, familial hypertrophic 25 (CMH25) [MIM:607487]
O15273	TELT_HUMAN	90	P	L	Unclassified	Cardiomyopathy, familial hypertrophic 25 (CMH25) [MIM:607487]
O15273	TELT_HUMAN	132	E	Q	Disease	-
O15273	TELT_HUMAN	87	R	Q	Unclassified	-
O15273	TELT_HUMAN	106	R	C	Polymorphism	-
O15273	TELT_HUMAN	137	T	I	Disease	Cardiomyopathy, familial hypertrophic 25 (CMH25) [MIM:607487]
O15273	TELT_HUMAN	153	R	H	Disease	Cardiomyopathy, familial hypertrophic 25 (CMH25) [MIM:607487]
O15273	TELT_HUMAN	74	L	H	Polymorphism	-
O15287	FANCG_HUMAN	430	K	E	Polymorphism	-
O15287	FANCG_HUMAN	607	A	T	Unclassified	A colorectal cancer sample
O15287	FANCG_HUMAN	513	R	Q	Polymorphism	-
O15287	FANCG_HUMAN	71	L	P	Disease	Fanconi anemia complementation group G (FANCG) [MIM:614082]
O15287	FANCG_HUMAN	603	S	F	Polymorphism	-
O15287	FANCG_HUMAN	378	S	L	Polymorphism	-
O15287	FANCG_HUMAN	297	T	I	Polymorphism	-
O15287	FANCG_HUMAN	294	G	E	Polymorphism	-
O15287	FANCG_HUMAN	330	P	S	Polymorphism	-
O15294	OGT1_HUMAN	538	L	P	Unclassified	-
O15294	OGT1_HUMAN	319	A	T	Unclassified	Mental retardation, X-linked 106 (MRX106) [MIM:300997]
O15294	OGT1_HUMAN	254	L	F	Disease	Mental retardation, X-linked 106 (MRX106) [MIM:300997]
O15294	OGT1_HUMAN	284	R	P	Disease	Mental retardation, X-linked 106 (MRX106) [MIM:300997]
O15296	LX15B_HUMAN	486	R	H	Polymorphism	-
O15296	LX15B_HUMAN	676	I	V	Polymorphism	-
O15296	LX15B_HUMAN	656	Q	R	Polymorphism	-
O15297	PPM1D_HUMAN	322	P	Q	Polymorphism	-
O15303	GRM6_HUMAN	227	E	V	Polymorphism	-
O15303	GRM6_HUMAN	46	P	L	Disease	Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
O15303	GRM6_HUMAN	191	S	F	Unclassified	A breast cancer sample
O15303	GRM6_HUMAN	712	M	V	Polymorphism	-
O15303	GRM6_HUMAN	58	G	R	Disease	Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
O15303	GRM6_HUMAN	522	C	Y	Disease	Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
O15303	GRM6_HUMAN	59	Q	P	Polymorphism	-
O15303	GRM6_HUMAN	817	T	S	Polymorphism	-
O15303	GRM6_HUMAN	150	G	S	Disease	Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
O15303	GRM6_HUMAN	236	I	F	Polymorphism	-
O15303	GRM6_HUMAN	405	I	T	Disease	Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
O15303	GRM6_HUMAN	781	E	K	Disease	Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]
O15303	GRM6_HUMAN	807	A	V	Polymorphism	-
O15305	PMM2_HUMAN	120	I	T	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	216	N	I	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	188	D	G	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	195	H	R	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	237	T	M	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	176	G	V	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	144	F	L	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	132	I	F	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	223	D	N	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	129	V	M	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	216	N	S	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	237	T	R	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	103	C	F	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	238	R	G	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	162	R	W	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	141	R	H	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	208	G	A	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	108	A	V	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	69	P	S	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	76	Y	C	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	218	H	L	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	214	G	S	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	151	E	G	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	197	E	A	Polymorphism	-
O15305	PMM2_HUMAN	132	I	T	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	123	R	Q	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	241	C	S	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	226	T	S	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	67	V	M	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	172	F	V	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	93	E	A	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	141	R	C	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	217	D	E	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	238	R	P	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	44	V	L	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	153	I	T	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	192	C	G	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	131	P	A	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	229	Y	S	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	175	G	R	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	132	I	N	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	113	P	L	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	32	L	R	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	101	N	K	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	44	V	A	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	37	Q	H	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	64	Y	C	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	206	F	S	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	15	G	E	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	157	F	S	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	228	G	C	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	231	V	M	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	119	F	L	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	233	A	T	Unclassified	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	223	D	E	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	9	C	Y	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	11	F	C	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	117	G	R	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	65	D	Y	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	37	Q	L	Polymorphism	-
O15305	PMM2_HUMAN	177	Q	H	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	139	E	K	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	185	D	G	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	42	G	R	Polymorphism	-
O15305	PMM2_HUMAN	148	D	N	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	228	G	R	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	183	F	S	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	106	Y	C	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	212	M	V	Polymorphism	-
O15305	PMM2_HUMAN	104	L	V	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15305	PMM2_HUMAN	20	P	S	Disease	Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]
O15315	RA51B_HUMAN	172	L	W	Polymorphism	-
O15315	RA51B_HUMAN	250	S	A	Polymorphism	-
O15315	RA51B_HUMAN	82	F	C	Polymorphism	-
O15315	RA51B_HUMAN	243	K	R	Polymorphism	-
O15315	RA51B_HUMAN	180	Y	C	Polymorphism	-
O15315	RA51B_HUMAN	365	P	R	Polymorphism	-
O15315	RA51B_HUMAN	9	V	M	Polymorphism	-
O15315	RA51B_HUMAN	207	V	L	Polymorphism	-
O15321	TM9S1_HUMAN	18	L	M	Polymorphism	-
O15321	TM9S1_HUMAN	215	R	H	Polymorphism	-
O15327	INP4B_HUMAN	311	Y	F	Polymorphism	-
O15335	CHAD_HUMAN	350	T	I	Polymorphism	-
O15335	CHAD_HUMAN	312	R	Q	Polymorphism	-
O15344	TRI18_HUMAN	536	I	T	Disease	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]
O15344	TRI18_HUMAN	295	L	P	Disease	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]
O15344	TRI18_HUMAN	266	C	R	Disease	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]
O15344	TRI18_HUMAN	626	L	P	Disease	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]
O15347	HMGB3_HUMAN	56	E	Q	Polymorphism	-
O15347	HMGB3_HUMAN	51	T	A	Polymorphism	-
O15353	FOXN1_HUMAN	599	A	P	Polymorphism	-
O15353	FOXN1_HUMAN	69	R	C	Polymorphism	-
O15353	FOXN1_HUMAN	283	A	V	Polymorphism	-
O15353	FOXN1_HUMAN	411	R	W	Polymorphism	-
O15357	SHIP2_HUMAN	401	R	W	Disease	Opsismodysplasia (OPSMD) [MIM:258480]
O15357	SHIP2_HUMAN	688	W	C	Disease	Opsismodysplasia (OPSMD) [MIM:258480]
O15357	SHIP2_HUMAN	982	N	S	Polymorphism	-
O15357	SHIP2_HUMAN	659	P	S	Disease	Opsismodysplasia (OPSMD) [MIM:258480]
O15357	SHIP2_HUMAN	632	L	I	Polymorphism	-
O15357	SHIP2_HUMAN	1114	A	G	Polymorphism	-
O15357	SHIP2_HUMAN	721	V	M	Polymorphism	-
O15357	SHIP2_HUMAN	1083	A	G	Polymorphism	-
O15357	SHIP2_HUMAN	722	F	I	Disease	Opsismodysplasia (OPSMD) [MIM:258480]
O15360	FANCA_HUMAN	1346	A	T	Unclassified	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1324	P	L	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1400	R	H	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1082	L	P	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	843	Y	D	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	6	V	D	Polymorphism	-
O15360	FANCA_HUMAN	266	T	A	Polymorphism	-
O15360	FANCA_HUMAN	1417	H	D	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1287	V	I	Polymorphism	-
O15360	FANCA_HUMAN	1088	S	F	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1262	F	L	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	951	R	Q	Polymorphism	-
O15360	FANCA_HUMAN	739	P	L	Polymorphism	-
O15360	FANCA_HUMAN	1131	T	A	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	210	L	R	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1110	H	P	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	761	V	E	Polymorphism	-
O15360	FANCA_HUMAN	869	Q	P	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1359	D	Y	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1328	T	A	Polymorphism	-
O15360	FANCA_HUMAN	176	S	F	Polymorphism	-
O15360	FANCA_HUMAN	1360	M	I	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	501	G	S	Polymorphism	-
O15360	FANCA_HUMAN	131	T	S	Polymorphism	-
O15360	FANCA_HUMAN	717	M	I	Polymorphism	-
O15360	FANCA_HUMAN	492	H	R	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	660	L	P	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	598	D	N	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	809	G	D	Polymorphism	-
O15360	FANCA_HUMAN	181	A	V	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1055	R	W	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	858	S	R	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	277	A	G	Polymorphism	-
O15360	FANCA_HUMAN	817	L	P	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	435	R	C	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1128	Q	E	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	951	R	W	Polymorphism	-
O15360	FANCA_HUMAN	8	N	K	Unclassified	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1055	R	L	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1117	R	G	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	286	Q	R	Polymorphism	-
O15360	FANCA_HUMAN	252	D	G	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1302	W	R	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	1249	L	P	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	244	L	F	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15360	FANCA_HUMAN	643	P	A	Polymorphism	-
O15360	FANCA_HUMAN	412	A	V	Polymorphism	-
O15360	FANCA_HUMAN	845	L	P	Disease	Fanconi anemia, complementation group A (FANCA) [MIM:227650]
O15371	EIF3D_HUMAN	310	R	C	Polymorphism	-
O15374	MOT5_HUMAN	185	A	T	Polymorphism	-
O15374	MOT5_HUMAN	264	N	H	Polymorphism	-
O15379	HDAC3_HUMAN	411	N	S	Polymorphism	-
O15381	NVL_HUMAN	295	V	I	Polymorphism	-
O15381	NVL_HUMAN	359	C	G	Polymorphism	-
O15381	NVL_HUMAN	404	V	I	Polymorphism	-
O15382	BCAT2_HUMAN	186	T	R	Polymorphism	-
O15389	SIGL5_HUMAN	358	R	W	Polymorphism	-
O15389	SIGL5_HUMAN	72	V	A	Polymorphism	-
O15389	SIGL5_HUMAN	499	P	A	Polymorphism	-
O15389	SIGL5_HUMAN	322	F	S	Polymorphism	-
O15389	SIGL5_HUMAN	215	M	V	Polymorphism	-
O15391	TYY2_HUMAN	103	D	N	Unclassified	A breast cancer sample
O15392	BIRC5_HUMAN	129	K	E	Polymorphism	-
O15393	TMPS2_HUMAN	254	S	C	Polymorphism	-
O15393	TMPS2_HUMAN	329	E	Q	Polymorphism	-
O15393	TMPS2_HUMAN	160	V	M	Polymorphism	-
O15393	TMPS2_HUMAN	491	D	N	Polymorphism	-
O15393	TMPS2_HUMAN	449	K	N	Polymorphism	-
O15394	NCAM2_HUMAN	347	D	N	Polymorphism	-
O15394	NCAM2_HUMAN	350	L	P	Polymorphism	-
O15397	IPO8_HUMAN	6	I	F	Polymorphism	-
O15397	IPO8_HUMAN	640	I	V	Polymorphism	-
O15399	NMDE4_HUMAN	733	M	V	Unclassified	-
O15399	NMDE4_HUMAN	286	G	R	Unclassified	A breast cancer sample
O15399	NMDE4_HUMAN	140	P	S	Unclassified	A breast cancer sample
O15399	NMDE4_HUMAN	592	M	L	Unclassified	-
O15399	NMDE4_HUMAN	667	V	I	Disease	Epileptic encephalopathy, early infantile, 46 (EIEE46) [MIM:617162]
O15399	NMDE4_HUMAN	527	E	G	Unclassified	A breast cancer sample
O15399	NMDE4_HUMAN	982	A	P	Polymorphism	-
O15399	NMDE4_HUMAN	883	M	I	Polymorphism	-
O15399	NMDE4_HUMAN	922	A	V	Unclassified	-
O15399	NMDE4_HUMAN	466	L	V	Unclassified	-
O15399	NMDE4_HUMAN	926	A	T	Unclassified	-
O15399	NMDE4_HUMAN	872	R	H	Unclassified	-
O15399	NMDE4_HUMAN	1317	G	S	Polymorphism	-
O15403	MOT7_HUMAN	221	E	V	Polymorphism	-
O15403	MOT7_HUMAN	121	I	T	Polymorphism	-
O15403	MOT7_HUMAN	217	E	D	Polymorphism	-
O15403	MOT7_HUMAN	204	F	I	Polymorphism	-
O15405	TOX3_HUMAN	572	Q	P	Polymorphism	-
O15405	TOX3_HUMAN	128	V	M	Polymorphism	-
O15409	FOXP2_HUMAN	553	R	H	Disease	Speech-language disorder 1 (SPCH1) [MIM:602081]
O15417	TNC18_HUMAN	1193	A	G	Polymorphism	-
O15431	COPT1_HUMAN	25	P	A	Polymorphism	-
O15438	MRP3_HUMAN	1286	R	G	Polymorphism	-
O15438	MRP3_HUMAN	11	G	D	Polymorphism	-
O15438	MRP3_HUMAN	1365	Q	R	Polymorphism	-
O15438	MRP3_HUMAN	1381	R	S	Polymorphism	-
O15438	MRP3_HUMAN	346	S	F	Polymorphism	-
O15438	MRP3_HUMAN	1297	R	H	Polymorphism	-
O15439	MRP4_HUMAN	293	K	E	Polymorphism	-
O15439	MRP4_HUMAN	757	E	K	Polymorphism	-
O15439	MRP4_HUMAN	498	K	E	Polymorphism	-
O15439	MRP4_HUMAN	860	V	M	Polymorphism	-
O15439	MRP4_HUMAN	184	M	T	Polymorphism	-
O15439	MRP4_HUMAN	187	G	W	Polymorphism	-
O15439	MRP4_HUMAN	556	Y	C	Polymorphism	-
O15439	MRP4_HUMAN	487	G	E	Polymorphism	-
O15439	MRP4_HUMAN	667	P	L	Polymorphism	-
O15439	MRP4_HUMAN	866	I	V	Polymorphism	-
O15439	MRP4_HUMAN	744	M	V	Polymorphism	-
O15439	MRP4_HUMAN	171	C	G	Polymorphism	-
O15439	MRP4_HUMAN	1142	T	M	Polymorphism	-
O15439	MRP4_HUMAN	900	V	L	Polymorphism	-
O15439	MRP4_HUMAN	356	T	M	Polymorphism	-
O15439	MRP4_HUMAN	854	V	F	Polymorphism	-
O15439	MRP4_HUMAN	18	L	I	Polymorphism	-
O15439	MRP4_HUMAN	78	P	A	Polymorphism	-
O15439	MRP4_HUMAN	820	R	I	Polymorphism	-
O15439	MRP4_HUMAN	403	P	L	Polymorphism	-
O15439	MRP4_HUMAN	304	K	N	Polymorphism	-
O15439	MRP4_HUMAN	776	V	I	Polymorphism	-
O15439	MRP4_HUMAN	625	I	M	Polymorphism	-
O15444	CCL25_HUMAN	101	H	R	Polymorphism	-
O15444	CCL25_HUMAN	104	T	M	Polymorphism	-
O15444	CCL25_HUMAN	23	T	A	Polymorphism	-
O15446	RPA34_HUMAN	282	T	A	Polymorphism	-
O15446	RPA34_HUMAN	259	K	T	Polymorphism	-
O15446	RPA34_HUMAN	394	D	N	Polymorphism	-
O15446	RPA34_HUMAN	373	K	E	Polymorphism	-
O15446	RPA34_HUMAN	504	Q	K	Polymorphism	-
O15446	RPA34_HUMAN	503	K	Q	Polymorphism	-
O15455	TLR3_HUMAN	284	N	I	Polymorphism	-
O15455	TLR3_HUMAN	412	L	F	Polymorphism	-
O15455	TLR3_HUMAN	737	S	T	Polymorphism	-
O15455	TLR3_HUMAN	307	Y	D	Polymorphism	-
O15455	TLR3_HUMAN	554	P	S	Disease	Encephalopathy, acute, infection-induced, Herpes-specific, 2 (IIAE2) [MIM:613002]
O15457	MSH4_HUMAN	589	Y	C	Polymorphism	-
O15457	MSH4_HUMAN	914	S	N	Polymorphism	-
O15457	MSH4_HUMAN	90	A	T	Polymorphism	-
O15457	MSH4_HUMAN	60	A	V	Polymorphism	-
O15457	MSH4_HUMAN	162	E	K	Polymorphism	-
O15457	MSH4_HUMAN	97	A	T	Polymorphism	-
O15460	P4HA2_HUMAN	140	Q	R	Disease	Myopia 25, autosomal dominant (MYP25) [MIM:617238]
O15460	P4HA2_HUMAN	150	I	V	Unclassified	Myopia 25, autosomal dominant (MYP25) [MIM:617238]
O15460	P4HA2_HUMAN	291	E	K	Disease	Myopia 25, autosomal dominant (MYP25) [MIM:617238]
O15479	MAGB2_HUMAN	61	E	K	Polymorphism	-
O15479	MAGB2_HUMAN	318	G	R	Polymorphism	-
O15480	MAGB3_HUMAN	112	I	T	Polymorphism	-
O15480	MAGB3_HUMAN	107	R	H	Polymorphism	-
O15484	CAN5_HUMAN	243	R	L	Disease	Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235]
O15484	CAN5_HUMAN	244	L	P	Disease	Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235]
O15488	GLYG2_HUMAN	7	H	Y	Polymorphism	-
O15488	GLYG2_HUMAN	194	G	R	Polymorphism	-
O15488	GLYG2_HUMAN	313	H	R	Polymorphism	-
O15488	GLYG2_HUMAN	270	A	V	Polymorphism	-
O15488	GLYG2_HUMAN	373	R	C	Polymorphism	-
O15492	RGS16_HUMAN	137	H	R	Polymorphism	-
O15499	GSC2_HUMAN	47	R	C	Polymorphism	-
O15503	INSI1_HUMAN	27	A	T	Polymorphism	-
O15504	NUP42_HUMAN	391	D	N	Polymorphism	-
O15504	NUP42_HUMAN	392	K	N	Polymorphism	-
O15516	CLOCK_HUMAN	542	H	R	Polymorphism	-
O15516	CLOCK_HUMAN	380	E	K	Polymorphism	-
O15516	CLOCK_HUMAN	208	S	C	Polymorphism	-
O15516	CLOCK_HUMAN	395	L	I	Polymorphism	-
O15519	CFLAR_HUMAN	203	L	I	Polymorphism	-
O15520	FGF10_HUMAN	106	C	F	Disease	Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
O15520	FGF10_HUMAN	156	I	R	Disease	Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
O15522	NKX28_HUMAN	16	D	A	Polymorphism	-
O15524	SOCS1_HUMAN	210	Q	H	Polymorphism	-
O15527	OGG1_HUMAN	154	R	H	Polymorphism	-
O15527	OGG1_HUMAN	326	S	C	Polymorphism	-
O15527	OGG1_HUMAN	46	R	Q	Polymorphism	-
O15527	OGG1_HUMAN	320	S	T	Polymorphism	-
O15527	OGG1_HUMAN	229	R	Q	Polymorphism	-
O15527	OGG1_HUMAN	232	S	T	Unclassified	-
O15527	OGG1_HUMAN	288	A	V	Polymorphism	-
O15527	OGG1_HUMAN	322	D	N	Polymorphism	-
O15527	OGG1_HUMAN	131	R	Q	Polymorphism	-
O15527	OGG1_HUMAN	12	G	E	Polymorphism	-
O15527	OGG1_HUMAN	85	A	S	Polymorphism	-
O15528	CP27B_HUMAN	429	R	P	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	389	R	G	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	497	P	R	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	453	R	C	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	343	L	F	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	65	Q	H	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	389	R	C	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	323	S	Y	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	189	E	K	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	335	R	P	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	189	E	G	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	166	V	L	Polymorphism	-
O15528	CP27B_HUMAN	125	G	E	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	321	T	R	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	382	P	S	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	107	R	H	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	478	V	G	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	409	T	I	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15528	CP27B_HUMAN	389	R	H	Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]
O15529	GPR42_HUMAN	227	V	L	Polymorphism	-
O15529	GPR42_HUMAN	346	N	S	Polymorphism	-
O15529	GPR42_HUMAN	45	C	R	Polymorphism	-
O15529	GPR42_HUMAN	256	V	A	Polymorphism	-
O15529	GPR42_HUMAN	44	R	Q	Polymorphism	-
O15529	GPR42_HUMAN	174	W	R	Polymorphism	-
O15533	TPSN_HUMAN	260	R	T	Polymorphism	-
O15534	PER1_HUMAN	985	N	S	Unclassified	A breast cancer sample
O15534	PER1_HUMAN	696	E	Q	Unclassified	A breast cancer sample
O15534	PER1_HUMAN	1060	S	L	Unclassified	A colorectal cancer sample
O15534	PER1_HUMAN	968	R	H	Polymorphism	-
O15534	PER1_HUMAN	962	A	P	Polymorphism	-
O15534	PER1_HUMAN	422	H	Q	Unclassified	-
O15535	ZSC9_HUMAN	254	H	R	Polymorphism	-
O15537	XLRS1_HUMAN	223	C	R	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	222	K	N	Polymorphism	-
O15537	XLRS1_HUMAN	135	G	V	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	213	R	W	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	138	T	A	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	219	C	R	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	141	R	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	141	R	G	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	215	E	Q	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	215	E	K	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	140	G	R	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	110	C	Y	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	197	R	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	109	G	W	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	145	D	H	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	209	R	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	73	S	P	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	112	W	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	141	R	H	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	136	I	T	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	146	E	D	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	209	R	H	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	207	H	Q	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	216	L	P	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	219	C	G	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	193	P	S	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	192	P	L	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	72	E	G	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	109	G	E	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	102	R	Q	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	199	I	T	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	156	R	G	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	89	Y	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	213	R	Q	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	127	L	P	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	182	R	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	197	R	H	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	146	E	K	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	102	R	W	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	203	P	L	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	158	D	N	Polymorphism	-
O15537	XLRS1_HUMAN	155	Y	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	178	G	D	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	192	P	R	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	140	G	E	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	103	L	R	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	98	A	E	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	108	F	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	59	C	S	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	70	G	S	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	200	R	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	192	P	S	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	200	R	H	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	74	G	V	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	163	W	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	113	L	F	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	72	E	D	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	13	L	P	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	142	C	W	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	72	E	K	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	65	Y	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	70	G	A	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	12	L	H	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	193	P	L	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	96	W	R	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	109	G	R	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	206	W	C	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15537	XLRS1_HUMAN	143	D	V	Disease	Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]
O15540	FABP7_HUMAN	61	T	M	Polymorphism	-
O15547	P2RX6_HUMAN	242	R	H	Polymorphism	-
O15547	P2RX6_HUMAN	38	V	G	Polymorphism	-
O15550	KDM6A_HUMAN	834	E	D	Unclassified	A patient with chronic myelomonocytic leukemia
O15550	KDM6A_HUMAN	30	A	T	Polymorphism	-
O15550	KDM6A_HUMAN	270	I	V	Unclassified	A patient with chronic myelomonocytic leukemia
O15550	KDM6A_HUMAN	922	R	K	Unclassified	A patient with chronic myelomonocytic leukemia
O15550	KDM6A_HUMAN	581	T	A	Polymorphism	-
O15550	KDM6A_HUMAN	497	Q	H	Polymorphism	-
O15550	KDM6A_HUMAN	726	T	K	Polymorphism	-
O15550	KDM6A_HUMAN	1106	L	R	Unclassified	A colorectal cancer sample
O15552	FFAR2_HUMAN	211	L	H	Polymorphism	-
O15553	MEFV_HUMAN	694	M	V	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	440	Q	E	Polymorphism	-
O15553	MEFV_HUMAN	780	P	T	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	704	V	I	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	577	T	N	Disease	-
O15553	MEFV_HUMAN	694	M	I	Disease	Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610]
O15553	MEFV_HUMAN	33	V	L	Polymorphism	-
O15553	MEFV_HUMAN	694	M	V	Disease	Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610]
O15553	MEFV_HUMAN	720	I	M	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	681	T	I	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	474	E	K	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	680	M	L	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	744	A	S	Unclassified	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	675	S	N	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	695	K	M	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	726	V	A	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	196	G	W	Unclassified	-
O15553	MEFV_HUMAN	267	T	I	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	283	P	L	Unclassified	-
O15553	MEFV_HUMAN	177	T	I	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	702	S	C	Polymorphism	-
O15553	MEFV_HUMAN	42	R	W	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	138	G	A	Unclassified	-
O15553	MEFV_HUMAN	705	P	S	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	632	G	S	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	758	P	S	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	408	R	Q	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	230	E	K	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	680	M	I	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	577	T	A	Disease	-
O15553	MEFV_HUMAN	163	E	A	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	148	E	Q	Disease	Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610]
O15553	MEFV_HUMAN	247	I	V	Unclassified	-
O15553	MEFV_HUMAN	695	K	R	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	479	F	L	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	694	M	K	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	577	T	S	Disease	-
O15553	MEFV_HUMAN	585	F	L	Polymorphism	-
O15553	MEFV_HUMAN	653	R	H	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	661	D	N	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	641	I	F	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	304	G	R	Unclassified	-
O15553	MEFV_HUMAN	694	M	I	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	478	H	Y	Disease	Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610]
O15553	MEFV_HUMAN	148	E	V	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	761	R	H	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	319	E	K	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	743	F	L	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	167	E	D	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	656	E	A	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	632	G	A	Unclassified	-
O15553	MEFV_HUMAN	680	M	I	Disease	Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610]
O15553	MEFV_HUMAN	202	R	Q	Polymorphism	-
O15553	MEFV_HUMAN	369	P	S	Unclassified	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	148	E	Q	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	646	P	L	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	678	G	E	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	591	I	T	Unclassified	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	694	M	L	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	649	L	P	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	110	L	P	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	640	I	M	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	688	Y	C	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15553	MEFV_HUMAN	108	S	R	Disease	Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]
O15554	KCNN4_HUMAN	352	R	H	Disease	Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689]
O15554	KCNN4_HUMAN	282	V	E	Disease	Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689]
O15554	KCNN4_HUMAN	282	V	M	Disease	Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689]
O42043	ENK18_HUMAN	272	V	I	Polymorphism	-
O42043	ENK18_HUMAN	348	V	I	Polymorphism	-
O42043	ENK18_HUMAN	534	V	I	Polymorphism	-
O42043	ENK18_HUMAN	97	C	Y	Polymorphism	-
O43147	SGSM2_HUMAN	374	R	Q	Polymorphism	-
O43147	SGSM2_HUMAN	968	D	V	Polymorphism	-
O43147	SGSM2_HUMAN	238	R	K	Polymorphism	-
O43147	SGSM2_HUMAN	244	R	S	Polymorphism	-
O43147	SGSM2_HUMAN	63	L	M	Polymorphism	-
O43147	SGSM2_HUMAN	329	H	R	Polymorphism	-
O43149	ZZEF1_HUMAN	2014	I	V	Polymorphism	-
O43149	ZZEF1_HUMAN	2051	P	S	Polymorphism	-
O43149	ZZEF1_HUMAN	2369	E	Q	Polymorphism	-
O43149	ZZEF1_HUMAN	1437	S	A	Polymorphism	-
O43149	ZZEF1_HUMAN	2303	L	P	Polymorphism	-
O43149	ZZEF1_HUMAN	1021	I	V	Polymorphism	-
O43149	ZZEF1_HUMAN	2301	Y	H	Polymorphism	-
O43149	ZZEF1_HUMAN	1972	L	P	Polymorphism	-
O43149	ZZEF1_HUMAN	2421	A	T	Polymorphism	-
O43149	ZZEF1_HUMAN	30	V	A	Polymorphism	-
O43150	ASAP2_HUMAN	748	E	D	Polymorphism	-
O43151	TET3_HUMAN	577	R	Q	Polymorphism	-
O43155	FLRT2_HUMAN	486	R	Q	Polymorphism	-
O43156	TTI1_HUMAN	751	K	E	Polymorphism	-
O43156	TTI1_HUMAN	671	A	V	Polymorphism	-
O43156	TTI1_HUMAN	979	A	T	Polymorphism	-
O43156	TTI1_HUMAN	450	R	H	Polymorphism	-
O43156	TTI1_HUMAN	1028	R	K	Polymorphism	-
O43157	PLXB1_HUMAN	389	R	W	Polymorphism	-
O43157	PLXB1_HUMAN	1891	D	V	Unclassified	A breast cancer sample
O43157	PLXB1_HUMAN	753	S	L	Polymorphism	-
O43159	RRP8_HUMAN	145	A	P	Polymorphism	-
O43159	RRP8_HUMAN	329	P	S	Polymorphism	-
O43164	PJA2_HUMAN	705	A	T	Polymorphism	-
O43164	PJA2_HUMAN	176	E	G	Polymorphism	-
O43164	PJA2_HUMAN	297	Q	R	Polymorphism	-
O43166	SI1L1_HUMAN	996	E	D	Unclassified	A breast cancer sample
O43166	SI1L1_HUMAN	56	P	T	Polymorphism	-
O43167	ZBT24_HUMAN	408	C	G	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2) [MIM:614069]
O43167	ZBT24_HUMAN	518	A	T	Polymorphism	-
O43172	PRP4_HUMAN	315	P	L	Disease	Retinitis pigmentosa 70 (RP70) [MIM:615922]
O43172	PRP4_HUMAN	192	R	H	Disease	Retinitis pigmentosa 70 (RP70) [MIM:615922]
O43173	SIA8C_HUMAN	91	K	T	Polymorphism	-
O43175	SERA_HUMAN	135	R	W	Disease	Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
O43175	SERA_HUMAN	490	V	M	Disease	Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
O43175	SERA_HUMAN	261	V	M	Disease	Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
O43175	SERA_HUMAN	163	R	Q	Disease	Neu-Laxova syndrome 1 (NLS1) [MIM:256520]
O43175	SERA_HUMAN	377	G	S	Disease	Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
O43175	SERA_HUMAN	373	A	T	Disease	Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
O43175	SERA_HUMAN	425	V	M	Disease	Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
O43175	SERA_HUMAN	140	G	R	Disease	Neu-Laxova syndrome 1 (NLS1) [MIM:256520]
O43181	NDUS4_HUMAN	174	T	P	Polymorphism	-
O43181	NDUS4_HUMAN	119	D	H	Disease	Mitochondrial complex I deficiency, nuclear type 1 (MC1DN1) [MIM:252010]
O43182	RHG06_HUMAN	791	D	E	Polymorphism	-
O43184	ADA12_HUMAN	479	G	E	Unclassified	A breast cancer sample
O43184	ADA12_HUMAN	48	G	R	Polymorphism	-
O43184	ADA12_HUMAN	792	L	F	Unclassified	A breast cancer sample
O43184	ADA12_HUMAN	893	P	S	Unclassified	A cutaneous metastatic melanoma sample
O43184	ADA12_HUMAN	301	D	H	Unclassified	A breast cancer sample
O43184	ADA12_HUMAN	712	G	E	Unclassified	A cutaneous metastatic melanoma sample
O43186	CRX_HUMAN	10	H	D	Polymorphism	-
O43186	CRX_HUMAN	66	V	I	Polymorphism	-
O43186	CRX_HUMAN	242	V	M	Disease	Cone-rod dystrophy 2 (CORD2) [MIM:120970]
O43186	CRX_HUMAN	141	S	F	Unclassified	A breast cancer sample
O43186	CRX_HUMAN	80	E	A	Disease	Cone-rod dystrophy 2 (CORD2) [MIM:120970]
O43186	CRX_HUMAN	88	K	N	Disease	Leber congenital amaurosis 7 (LCA7) [MIM:613829]
O43186	CRX_HUMAN	41	R	Q	Disease	Retinitis pigmentosa (RP) [MIM:268000]
O43186	CRX_HUMAN	158	A	T	Polymorphism	-
O43186	CRX_HUMAN	41	R	W	Disease	Cone-rod dystrophy 2 (CORD2) [MIM:120970]
O43186	CRX_HUMAN	90	R	W	Disease	Leber congenital amaurosis 7 (LCA7) [MIM:613829]
O43186	CRX_HUMAN	154	T	A	Polymorphism	-
O43186	CRX_HUMAN	42	E	K	Unclassified	Leber congenital amaurosis 7 (LCA7) [MIM:613829]
O43186	CRX_HUMAN	122	G	D	Polymorphism	-
O43186	CRX_HUMAN	115	R	Q	Unclassified	Retinitis pigmentosa (RP) [MIM:268000]
O43187	IRAK2_HUMAN	469	D	N	Polymorphism	-
O43187	IRAK2_HUMAN	566	R	W	Polymorphism	-
O43187	IRAK2_HUMAN	43	R	Q	Polymorphism	-
O43187	IRAK2_HUMAN	503	L	I	Polymorphism	-
O43187	IRAK2_HUMAN	392	L	V	Polymorphism	-
O43187	IRAK2_HUMAN	99	I	V	Polymorphism	-
O43187	IRAK2_HUMAN	421	P	T	Unclassified	A lung adenocarcinoma sample
O43187	IRAK2_HUMAN	249	S	L	Unclassified	A lung adenocarcinoma sample
O43187	IRAK2_HUMAN	439	L	V	Polymorphism	-
O43187	IRAK2_HUMAN	47	S	Y	Polymorphism	-
O43187	IRAK2_HUMAN	574	D	H	Polymorphism	-
O43187	IRAK2_HUMAN	147	R	T	Polymorphism	-
O43187	IRAK2_HUMAN	431	D	E	Polymorphism	-
O43187	IRAK2_HUMAN	214	R	G	Polymorphism	-
O43189	PHF1_HUMAN	42	T	S	Polymorphism	-
O43189	PHF1_HUMAN	304	R	K	Polymorphism	-
O43194	GPR39_HUMAN	390	R	C	Polymorphism	-
O43194	GPR39_HUMAN	50	A	V	Polymorphism	-
O43196	MSH5_HUMAN	85	L	F	Polymorphism	-
O43196	MSH5_HUMAN	703	I	V	Unclassified	Premature ovarian failure 13 (POF13) [MIM:617442]
O43196	MSH5_HUMAN	487	D	Y	Disease	Premature ovarian failure 13 (POF13) [MIM:617442]
O43196	MSH5_HUMAN	206	V	F	Polymorphism	-
O43196	MSH5_HUMAN	786	P	S	Polymorphism	-
O43196	MSH5_HUMAN	29	P	S	Polymorphism	-
O43196	MSH5_HUMAN	353	L	M	Unclassified	Premature ovarian failure 13 (POF13) [MIM:617442]
O43196	MSH5_HUMAN	351	R	G	Polymorphism	-
O43196	MSH5_HUMAN	377	L	F	Polymorphism	-
O43196	MSH5_HUMAN	202	Y	C	Polymorphism	-
O43236	SEPT4_HUMAN	311	E	V	Polymorphism	-
O43240	KLK10_HUMAN	149	L	P	Polymorphism	-
O43240	KLK10_HUMAN	50	S	A	Polymorphism	-
O43246	CTR4_HUMAN	28	T	I	Polymorphism	-
O43246	CTR4_HUMAN	349	A	T	Polymorphism	-
O43246	CTR4_HUMAN	608	F	Y	Polymorphism	-
O43248	HXC11_HUMAN	222	A	V	Polymorphism	-
O43248	HXC11_HUMAN	130	P	S	Polymorphism	-
O43252	PAPS1_HUMAN	587	S	L	Polymorphism	-
O43252	PAPS1_HUMAN	270	L	F	Polymorphism	-
O43257	ZNHI1_HUMAN	134	R	W	Unclassified	A colorectal cancer sample
O43264	ZW10_HUMAN	77	I	M	Polymorphism	-
O43272	PROD_HUMAN	455	A	S	Disease	Hyperprolinemia 1 (HYRPRO1) [MIM:239500]
O43272	PROD_HUMAN	427	V	M	Disease	Schizophrenia 4 (SCZD4) [MIM:600850]
O43272	PROD_HUMAN	441	L	P	Disease	Hyperprolinemia 1 (HYRPRO1) [MIM:239500]
O43272	PROD_HUMAN	185	R	Q	Polymorphism	-
O43272	PROD_HUMAN	426	D	N	Disease	Hyperprolinemia 1 (HYRPRO1) [MIM:239500]
O43272	PROD_HUMAN	289	L	M	Disease	Hyperprolinemia 1 (HYRPRO1) [MIM:239500]
O43272	PROD_HUMAN	431	R	H	Disease	Hyperprolinemia 1 (HYRPRO1) [MIM:239500]
O43272	PROD_HUMAN	488	N	S	Unclassified	A breast cancer sample
O43272	PROD_HUMAN	453	R	C	Disease	Schizophrenia 4 (SCZD4) [MIM:600850]
O43272	PROD_HUMAN	406	P	L	Disease	Schizophrenia 4 (SCZD4) [MIM:600850]
O43272	PROD_HUMAN	453	R	C	Disease	Hyperprolinemia 1 (HYRPRO1) [MIM:239500]
O43272	PROD_HUMAN	58	A	T	Polymorphism	-
O43272	PROD_HUMAN	466	T	M	Disease	Schizophrenia 4 (SCZD4) [MIM:600850]
O43272	PROD_HUMAN	167	A	V	Polymorphism	-
O43272	PROD_HUMAN	185	R	W	Polymorphism	-
O43272	PROD_HUMAN	427	V	M	Disease	Hyperprolinemia 1 (HYRPRO1) [MIM:239500]
O43272	PROD_HUMAN	521	Q	R	Disease	Hyperprolinemia 1 (HYRPRO1) [MIM:239500]
O43272	PROD_HUMAN	472	A	T	Disease	Schizophrenia 4 (SCZD4) [MIM:600850]
O43272	PROD_HUMAN	275	T	N	Polymorphism	-
O43272	PROD_HUMAN	441	L	P	Disease	Schizophrenia 4 (SCZD4) [MIM:600850]
O43272	PROD_HUMAN	472	A	T	Disease	Hyperprolinemia 1 (HYRPRO1) [MIM:239500]
O43272	PROD_HUMAN	444	G	D	Polymorphism	-
O43272	PROD_HUMAN	30	P	S	Polymorphism	-
O43272	PROD_HUMAN	8	P	L	Polymorphism	-
O43272	PROD_HUMAN	521	Q	E	Polymorphism	-
O43272	PROD_HUMAN	521	Q	R	Disease	Schizophrenia 4 (SCZD4) [MIM:600850]
O43272	PROD_HUMAN	19	Q	P	Polymorphism	-
O43278	SPIT1_HUMAN	337	P	L	Polymorphism	-
O43278	SPIT1_HUMAN	142	T	R	Polymorphism	-
O43278	SPIT1_HUMAN	123	Y	C	Polymorphism	-
O43280	TREA_HUMAN	558	A	P	Polymorphism	-
O43280	TREA_HUMAN	561	A	P	Polymorphism	-
O43280	TREA_HUMAN	449	Y	H	Polymorphism	-
O43280	TREA_HUMAN	486	R	W	Polymorphism	-
O43280	TREA_HUMAN	389	T	A	Polymorphism	-
O43281	EFS_HUMAN	361	M	I	Unclassified	A colorectal cancer sample
O43281	EFS_HUMAN	7	T	A	Polymorphism	-
O43281	EFS_HUMAN	100	V	M	Polymorphism	-
O43283	M3K13_HUMAN	915	R	H	Polymorphism	-
O43283	M3K13_HUMAN	517	R	G	Polymorphism	-
O43283	M3K13_HUMAN	712	E	K	Polymorphism	-
O43283	M3K13_HUMAN	44	E	K	Polymorphism	-
O43283	M3K13_HUMAN	746	P	L	Unclassified	A metastatic melanoma sample
O43286	B4GT5_HUMAN	368	D	N	Polymorphism	-
O43286	B4GT5_HUMAN	61	G	S	Polymorphism	-
O43286	B4GT5_HUMAN	371	Y	D	Polymorphism	-
O43290	SNUT1_HUMAN	485	G	A	Polymorphism	-
O43290	SNUT1_HUMAN	245	R	C	Polymorphism	-
O43290	SNUT1_HUMAN	463	S	A	Polymorphism	-
O43291	SPIT2_HUMAN	200	V	L	Polymorphism	-
O43291	SPIT2_HUMAN	163	Y	C	Disease	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3) [MIM:270420]
O43292	GPAA1_HUMAN	54	A	N	Unclassified	Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810]
O43292	GPAA1_HUMAN	176	W	S	Disease	Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810]
O43292	GPAA1_HUMAN	291	L	P	Disease	Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810]
O43292	GPAA1_HUMAN	290	L	P	Disease	Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810]
O43292	GPAA1_HUMAN	389	A	P	Disease	Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810]
O43292	GPAA1_HUMAN	51	S	L	Disease	Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810]
O43293	DAPK3_HUMAN	112	T	M	Unclassified	A colorectal adenocarcinoma sample
O43293	DAPK3_HUMAN	216	P	S	Unclassified	A lung neuroendocrine carcinoma sample
O43293	DAPK3_HUMAN	161	D	N	Unclassified	An ovarian mucinous carcinoma sample
O43294	TGFI1_HUMAN	129	Q	H	Polymorphism	-
O43295	SRGP3_HUMAN	623	L	I	Unclassified	A breast cancer sample
O43295	SRGP3_HUMAN	628	I	V	Polymorphism	-
O43296	ZN264_HUMAN	183	R	H	Polymorphism	-
O43296	ZN264_HUMAN	181	R	T	Polymorphism	-
O43299	AP5Z1_HUMAN	94	S	C	Polymorphism	-
O43303	CP110_HUMAN	69	R	S	Polymorphism	-
O43303	CP110_HUMAN	347	F	I	Polymorphism	-
O43303	CP110_HUMAN	171	P	L	Polymorphism	-
O43303	CP110_HUMAN	375	M	I	Polymorphism	-
O43303	CP110_HUMAN	252	I	M	Polymorphism	-
O43306	ADCY6_HUMAN	674	A	S	Polymorphism	-
O43306	ADCY6_HUMAN	1116	R	C	Disease	Lethal congenital contracture syndrome 8 (LCCS8) [MIM:616287]
O43307	ARHG9_HUMAN	55	G	A	Disease	Epileptic encephalopathy, early infantile, 8 (EIEE8) [MIM:300607]
O43307	ARHG9_HUMAN	401	E	K	Disease	-
O43307	ARHG9_HUMAN	290	R	H	Disease	Epileptic encephalopathy, early infantile, 8 (EIEE8) [MIM:300607]
O43310	CTIF_HUMAN	82	P	L	Polymorphism	-
O43310	CTIF_HUMAN	389	V	L	Unclassified	A breast cancer sample
O43310	CTIF_HUMAN	438	M	I	Unclassified	A breast cancer sample
O43312	MTSS1_HUMAN	725	T	A	Polymorphism	-
O43312	MTSS1_HUMAN	305	N	I	Polymorphism	-
O43313	ATMIN_HUMAN	305	K	E	Polymorphism	-
O43313	ATMIN_HUMAN	240	S	P	Polymorphism	-
O43314	VIP2_HUMAN	944	A	G	Polymorphism	-
O43314	VIP2_HUMAN	1232	T	M	Polymorphism	-
O43314	VIP2_HUMAN	1206	P	Q	Polymorphism	-
O43314	VIP2_HUMAN	985	E	K	Polymorphism	-
O43314	VIP2_HUMAN	1003	R	K	Polymorphism	-
O43315	AQP9_HUMAN	279	T	A	Polymorphism	-
O43316	PAX4_HUMAN	191	R	C	Polymorphism	-
O43316	PAX4_HUMAN	39	R	Q	Polymorphism	-
O43316	PAX4_HUMAN	129	R	W	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
O43316	PAX4_HUMAN	172	R	W	Disease	Maturity-onset diabetes of the young 9 (MODY9) [MIM:612225]
O43316	PAX4_HUMAN	200	R	S	Polymorphism	-
O43316	PAX4_HUMAN	45	R	W	Disease	Diabetes mellitus, ketosis-prone (KPD) [MIM:612227]
O43316	PAX4_HUMAN	200	R	H	Polymorphism	-
O43316	PAX4_HUMAN	141	R	W	Disease	Diabetes mellitus, ketosis-prone (KPD) [MIM:612227]
O43318	M3K7_HUMAN	110	G	C	Disease	Cardiospondylocarpofacial syndrome (CSCF) [MIM:157800]
O43318	M3K7_HUMAN	100	V	E	Disease	Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137]
O43318	M3K7_HUMAN	512	P	L	Disease	Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137]
O43318	M3K7_HUMAN	241	W	R	Disease	Cardiospondylocarpofacial syndrome (CSCF) [MIM:157800]
O43318	M3K7_HUMAN	168	G	R	Disease	Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137]
O43318	M3K7_HUMAN	410	R	Q	Unclassified	-
O43318	M3K7_HUMAN	70	E	Q	Disease	Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137]
O43320	FGF16_HUMAN	68	R	L	Disease	Metacarpal 4-5 fusion (MF4) [MIM:309630]
O43323	DHH_HUMAN	162	L	P	Disease	46,XY sex reversal 7 (SRXY7) [MIM:233420]
O43345	ZN208_HUMAN	640	K	E	Polymorphism	-
O43345	ZN208_HUMAN	282	E	K	Polymorphism	-
O43345	ZN208_HUMAN	456	E	Q	Polymorphism	-
O43345	ZN208_HUMAN	298	S	L	Polymorphism	-
O43345	ZN208_HUMAN	1035	D	G	Polymorphism	-
O43347	MSI1H_HUMAN	160	E	Q	Unclassified	A breast cancer sample
O43353	RIPK2_HUMAN	268	L	V	Polymorphism	-
O43353	RIPK2_HUMAN	259	I	T	Polymorphism	-
O43353	RIPK2_HUMAN	313	K	N	Polymorphism	-
O43361	ZN749_HUMAN	771	I	R	Polymorphism	-
O43361	ZN749_HUMAN	405	A	T	Polymorphism	-
O43361	ZN749_HUMAN	243	Q	R	Polymorphism	-
O43364	HXA2_HUMAN	186	Q	K	Disease	Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290]
O43365	HXA3_HUMAN	42	D	N	Unclassified	A breast cancer sample
O43365	HXA3_HUMAN	131	A	T	Unclassified	A breast cancer sample
O43374	RASL2_HUMAN	352	M	V	Polymorphism	-
O43374	RASL2_HUMAN	432	R	P	Polymorphism	-
O43379	WDR62_HUMAN	289	K	R	Polymorphism	-
O43379	WDR62_HUMAN	526	E	K	Disease	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317]
O43379	WDR62_HUMAN	224	W	S	Disease	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317]
O43379	WDR62_HUMAN	511	D	N	Disease	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317]
O43379	WDR62_HUMAN	65	V	M	Disease	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317]
O43379	WDR62_HUMAN	1370	G	S	Polymorphism	-
O43379	WDR62_HUMAN	850	L	S	Polymorphism	-
O43379	WDR62_HUMAN	438	R	H	Disease	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317]
O43379	WDR62_HUMAN	1305	Q	L	Polymorphism	-
O43379	WDR62_HUMAN	1385	L	F	Polymorphism	-
O43379	WDR62_HUMAN	1311	Q	E	Polymorphism	-
O43395	PRPF3_HUMAN	494	T	M	Disease	Retinitis pigmentosa 18 (RP18) [MIM:601414]
O43395	PRPF3_HUMAN	12	K	N	Polymorphism	-
O43395	PRPF3_HUMAN	493	P	S	Disease	Retinitis pigmentosa 18 (RP18) [MIM:601414]
O43405	COCH_HUMAN	352	T	S	Polymorphism	-
O43405	COCH_HUMAN	109	I	N	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	119	A	T	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	88	G	E	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	117	W	R	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	51	P	S	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	532	P	S	Polymorphism	-
O43405	COCH_HUMAN	87	G	V	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	87	G	W	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	109	I	T	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	135	G	R	Polymorphism	-
O43405	COCH_HUMAN	518	E	G	Polymorphism	-
O43405	COCH_HUMAN	542	C	Y	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	38	G	D	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	281	D	N	Polymorphism	-
O43405	COCH_HUMAN	402	I	V	Polymorphism	-
O43405	COCH_HUMAN	527	F	C	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	512	M	T	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	66	V	G	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405	COCH_HUMAN	162	C	Y	Disease	Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43423	AN32C_HUMAN	23	A	V	Polymorphism	-
O43423	AN32C_HUMAN	140	Y	H	Polymorphism	-
O43423	AN32C_HUMAN	105	L	P	Polymorphism	-
O43423	AN32C_HUMAN	204	E	G	Polymorphism	-
O43423	AN32C_HUMAN	71	R	K	Polymorphism	-
O43424	GRID2_HUMAN	654	A	D	Disease	Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204]
O43424	GRID2_HUMAN	656	L	V	Disease	Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204]
O43424	GRID2_HUMAN	654	A	T	Disease	Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204]
O43424	GRID2_HUMAN	209	T	N	Unclassified	A colorectal cancer sample
O43424	GRID2_HUMAN	490	V	I	Polymorphism	-
O43424	GRID2_HUMAN	68	T	M	Polymorphism	-
O43424	GRID2_HUMAN	398	F	S	Polymorphism	-
O43426	SYNJ1_HUMAN	420	R	P	Disease	Parkinson disease 20, early-onset (PARK20) [MIM:615530]
O43426	SYNJ1_HUMAN	1366	V	A	Polymorphism	-
O43426	SYNJ1_HUMAN	849	Y	C	Disease	Epileptic encephalopathy, early infantile, 53 (EIEE53) [MIM:617389]
O43426	SYNJ1_HUMAN	981	M	I	Polymorphism	-
O43426	SYNJ1_HUMAN	1018	Y	S	Polymorphism	-
O43426	SYNJ1_HUMAN	219	R	Q	Disease	Parkinson disease 20, early-onset (PARK20) [MIM:615530]
O43426	SYNJ1_HUMAN	295	K	R	Polymorphism	-
O43426	SYNJ1_HUMAN	1547	P	L	Polymorphism	-
O43426	SYNJ1_HUMAN	1383	S	R	Unclassified	Parkinson disease 20, early-onset (PARK20) [MIM:615530]
O43427	FIBP_HUMAN	359	L	R	Polymorphism	-
O43427	FIBP_HUMAN	152	R	W	Polymorphism	-
O43427	FIBP_HUMAN	351	M	V	Polymorphism	-
O43432	IF4G3_HUMAN	378	Q	R	Polymorphism	-
O43432	IF4G3_HUMAN	1185	D	E	Polymorphism	-
O43432	IF4G3_HUMAN	496	P	A	Polymorphism	-
O43435	TBX1_HUMAN	148	F	Y	Disease	Conotruncal heart malformations (CTHM) [MIM:217095]
O43435	TBX1_HUMAN	337	G	E	Unclassified	A colorectal cancer sample
O43435	TBX1_HUMAN	194	H	Q	Disease	Velocardiofacial syndrome (VCFS) [MIM:192430]
O43435	TBX1_HUMAN	310	G	S	Disease	DiGeorge syndrome (DGS) [MIM:188400]
O43435	TBX1_HUMAN	350	T	M	Polymorphism	-
O43435	TBX1_HUMAN	148	F	Y	Disease	Velocardiofacial syndrome (VCFS) [MIM:192430]
O43451	MGA_HUMAN	404	Q	H	Polymorphism	-
O43451	MGA_HUMAN	542	S	L	Polymorphism	-
O43451	MGA_HUMAN	1638	L	I	Polymorphism	-
O43451	MGA_HUMAN	858	N	D	Polymorphism	-
O43462	MBTP2_HUMAN	508	N	S	Disease	Keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]
O43462	MBTP2_HUMAN	505	L	F	Disease	Osteogenesis imperfecta 19 (OI19) [MIM:301014]
O43462	MBTP2_HUMAN	226	W	L	Disease	IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]
O43462	MBTP2_HUMAN	227	H	L	Disease	IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]
O43462	MBTP2_HUMAN	475	F	S	Disease	IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]
O43462	MBTP2_HUMAN	464	F	S	Disease	Olmsted syndrome, X-linked (OLMSX) [MIM:300918]
O43462	MBTP2_HUMAN	87	M	I	Disease	IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]
O43462	MBTP2_HUMAN	429	R	H	Disease	IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]
O43462	MBTP2_HUMAN	459	N	S	Disease	Osteogenesis imperfecta 19 (OI19) [MIM:301014]
O43464	HTRA2_HUMAN	399	G	S	Polymorphism	-
O43464	HTRA2_HUMAN	72	L	P	Polymorphism	-
O43464	HTRA2_HUMAN	12	W	C	Polymorphism	-
O43464	HTRA2_HUMAN	404	R	Q	Disease	3-methylglutaconic aciduria 8 (MGCA8) [MIM:617248]
O43464	HTRA2_HUMAN	141	A	S	Polymorphism	-
O43464	HTRA2_HUMAN	404	R	W	Disease	Parkinson disease 13 (PARK13) [MIM:610297]
O43464	HTRA2_HUMAN	128	P	L	Polymorphism	-
O43464	HTRA2_HUMAN	227	A	S	Polymorphism	-
O43474	KLF4_HUMAN	315	T	S	Polymorphism	-
O43474	KLF4_HUMAN	321	L	F	Polymorphism	-
O43488	ARK72_HUMAN	135	V	M	Polymorphism	-
O43488	ARK72_HUMAN	142	A	T	Polymorphism	-
O43488	ARK72_HUMAN	214	C	Y	Polymorphism	-
O43488	ARK72_HUMAN	157	Q	H	Polymorphism	-
O43488	ARK72_HUMAN	198	G	S	Polymorphism	-
O43488	ARK72_HUMAN	255	S	N	Polymorphism	-
O43488	ARK72_HUMAN	180	E	K	Polymorphism	-
O43490	PROM1_HUMAN	31	A	S	Polymorphism	-
O43490	PROM1_HUMAN	31	A	G	Polymorphism	-
O43490	PROM1_HUMAN	373	R	C	Disease	Stargardt disease 4 (STGD4) [MIM:603786]
O43490	PROM1_HUMAN	373	R	C	Disease	Cone-rod dystrophy 12 (CORD12) [MIM:612657]
O43490	PROM1_HUMAN	373	R	C	Disease	Retinal macular dystrophy 2 (MCDR2) [MIM:608051]
O43491	E41L2_HUMAN	17	Q	H	Polymorphism	-
O43493	TGON2_HUMAN	103	K	Q	Polymorphism	-
O43493	TGON2_HUMAN	10	L	V	Polymorphism	-
O43493	TGON2_HUMAN	259	R	W	Polymorphism	-
O43493	TGON2_HUMAN	86	A	G	Polymorphism	-
O43493	TGON2_HUMAN	91	Q	L	Polymorphism	-
O43493	TGON2_HUMAN	105	Q	P	Polymorphism	-
O43493	TGON2_HUMAN	322	E	G	Polymorphism	-
O43497	CAC1G_HUMAN	1531	M	V	Disease	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (SCA42ND) [MIM:618087]
O43497	CAC1G_HUMAN	1715	R	H	Disease	Spinocerebellar ataxia 42 (SCA42) [MIM:616795]
O43497	CAC1G_HUMAN	961	A	T	Disease	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (SCA42ND) [MIM:618087]
O43502	RA51C_HUMAN	264	G	V	Polymorphism	-
O43502	RA51C_HUMAN	169	V	A	Polymorphism	-
O43502	RA51C_HUMAN	178	Q	P	Disease	Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]
O43502	RA51C_HUMAN	175	A	T	Polymorphism	-
O43502	RA51C_HUMAN	159	D	N	Unclassified	-
O43502	RA51C_HUMAN	138	L	F	Disease	Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]
O43502	RA51C_HUMAN	249	R	C	Polymorphism	-
O43502	RA51C_HUMAN	262	L	V	Polymorphism	-
O43502	RA51C_HUMAN	264	G	S	Polymorphism	-
O43502	RA51C_HUMAN	258	R	H	Disease	Fanconi anemia complementation group O (FANCO) [MIM:613390]
O43502	RA51C_HUMAN	3	G	R	Polymorphism	-
O43502	RA51C_HUMAN	162	G	E	Disease	Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]
O43502	RA51C_HUMAN	114	G	V	Polymorphism	-
O43502	RA51C_HUMAN	52	I	L	Polymorphism	-
O43502	RA51C_HUMAN	366	R	Q	Polymorphism	-
O43502	RA51C_HUMAN	125	G	V	Disease	Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]
O43502	RA51C_HUMAN	126	A	T	Polymorphism	-
O43502	RA51C_HUMAN	144	I	T	Polymorphism	-
O43502	RA51C_HUMAN	287	T	A	Disease	Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]
O43505	B4GA1_HUMAN	390	N	D	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]
O43505	B4GA1_HUMAN	253	T	S	Polymorphism	-
O43505	B4GA1_HUMAN	406	A	V	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]
O43506	ADA20_HUMAN	19	F	L	Polymorphism	-
O43511	S26A4_HUMAN	508	T	N	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	236	L	P	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	239	V	D	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	775	M	C	Unclassified	-
O43511	S26A4_HUMAN	209	G	V	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	409	R	H	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	139	G	A	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	490	I	L	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	392	N	Y	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	672	G	E	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	147	M	V	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	457	N	K	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	410	T	M	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	455	I	F	Polymorphism	-
O43511	S26A4_HUMAN	497	G	S	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	480	V	D	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	530	Y	S	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	514	Q	R	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	335	F	L	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	530	Y	S	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	446	Q	R	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	421	Q	R	Polymorphism	-
O43511	S26A4_HUMAN	117	L	F	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	740	G	S	Polymorphism	-
O43511	S26A4_HUMAN	402	V	M	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	445	L	W	Unclassified	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	552	S	I	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	558	N	K	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	687	D	Y	Polymorphism	-
O43511	S26A4_HUMAN	723	H	R	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	106	A	D	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	252	S	P	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	123	P	S	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	446	Q	R	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	410	T	M	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	78	Y	C	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	239	V	D	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	324	N	Y	Polymorphism	-
O43511	S26A4_HUMAN	28	S	R	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	411	A	P	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	90	S	L	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	28	S	R	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	369	K	E	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	117	L	F	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	676	L	Q	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	597	L	S	Unclassified	-
O43511	S26A4_HUMAN	227	A	P	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	409	R	P	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	391	S	N	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	301	P	L	Polymorphism	-
O43511	S26A4_HUMAN	137	S	P	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	102	G	R	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	133	S	T	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	416	T	P	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	104	A	V	Polymorphism	-
O43511	S26A4_HUMAN	445	L	W	Unclassified	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	236	L	P	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	271	D	H	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	721	T	M	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	723	H	R	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	335	F	L	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	209	G	V	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	775	M	T	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	105	Y	C	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	6	G	V	Polymorphism	-
O43511	S26A4_HUMAN	776	R	C	Unclassified	-
O43511	S26A4_HUMAN	565	C	Y	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	556	Y	H	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	132	T	I	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	683	F	S	Polymorphism	-
O43511	S26A4_HUMAN	138	V	F	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	144	V	A	Unclassified	-
O43511	S26A4_HUMAN	530	Y	H	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	556	Y	C	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	372	A	V	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	384	E	G	Unclassified	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	29	E	Q	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	556	Y	C	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	99	T	M	Polymorphism	-
O43511	S26A4_HUMAN	609	V	G	Polymorphism	-
O43511	S26A4_HUMAN	721	T	M	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	402	V	M	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	653	V	A	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	666	S	F	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	185	R	T	Unclassified	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	724	D	N	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	416	T	P	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43511	S26A4_HUMAN	667	F	C	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	193	T	I	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	694	S	P	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	775	M	T	Disease	Pendred syndrome (PDS) [MIM:274600]
O43511	S26A4_HUMAN	24	R	G	Polymorphism	-
O43511	S26A4_HUMAN	281	V	I	Disease	Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]
O43516	WIPF1_HUMAN	495	A	G	Polymorphism	-
O43516	WIPF1_HUMAN	198	P	L	Polymorphism	-
O43520	AT8B1_HUMAN	814	K	N	Polymorphism	-
O43520	AT8B1_HUMAN	203	K	E	Disease	Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]
O43520	AT8B1_HUMAN	78	H	Q	Polymorphism	-
O43520	AT8B1_HUMAN	554	D	N	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	393	I	V	Polymorphism	-
O43520	AT8B1_HUMAN	209	P	T	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	1040	G	R	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	412	R	P	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	1152	A	T	Polymorphism	-
O43520	AT8B1_HUMAN	45	N	T	Disease	Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]
O43520	AT8B1_HUMAN	500	Y	H	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	535	H	L	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	886	A	V	Unclassified	A breast cancer sample
O43520	AT8B1_HUMAN	733	G	R	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	867	R	C	Disease	Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]
O43520	AT8B1_HUMAN	1178	I	M	Unclassified	A breast cancer sample
O43520	AT8B1_HUMAN	853	F	S	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	453	S	Y	Disease	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520	AT8B1_HUMAN	305	F	I	Polymorphism	-
O43520	AT8B1_HUMAN	127	L	P	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	456	T	M	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	308	G	V	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	308	G	D	Disease	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520	AT8B1_HUMAN	1012	S	I	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	344	I	F	Disease	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520	AT8B1_HUMAN	454	D	G	Disease	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520	AT8B1_HUMAN	892	G	R	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	952	R	Q	Polymorphism	-
O43520	AT8B1_HUMAN	892	G	R	Disease	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520	AT8B1_HUMAN	661	I	T	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	403	S	Y	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	384	R	H	Polymorphism	-
O43520	AT8B1_HUMAN	577	I	V	Polymorphism	-
O43520	AT8B1_HUMAN	661	I	T	Disease	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520	AT8B1_HUMAN	288	L	S	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	70	D	N	Unclassified	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520	AT8B1_HUMAN	688	D	G	Disease	Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520	AT8B1_HUMAN	628	R	W	Disease	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520	AT8B1_HUMAN	429	E	A	Polymorphism	-
O43520	AT8B1_HUMAN	694	I	T	Disease	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520	AT8B1_HUMAN	600	R	W	Disease	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520	AT8B1_HUMAN	674	M	T	Polymorphism	-
O43520	AT8B1_HUMAN	600	R	Q	Disease	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520	AT8B1_HUMAN	580	S	N	Polymorphism	-
O43525	KCNQ3_HUMAN	468	N	S	Polymorphism	-
O43525	KCNQ3_HUMAN	340	G	V	Unclassified	Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201]
O43525	KCNQ3_HUMAN	780	R	C	Unclassified	-
O43525	KCNQ3_HUMAN	310	G	V	Disease	Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201]
O43525	KCNQ3_HUMAN	414	E	G	Polymorphism	-
O43525	KCNQ3_HUMAN	309	W	R	Disease	Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201]
O43525	KCNQ3_HUMAN	305	D	G	Disease	Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201]
O43525	KCNQ3_HUMAN	574	P	S	Unclassified	-
O43526	KCNQ2_HUMAN	578	M	V	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	268	L	F	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	588	R	S	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	358	S	F	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	554	K	N	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	294	A	V	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	306	A	T	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	207	R	Q	Polymorphism	-
O43526	KCNQ2_HUMAN	561	P	S	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	159	G	R	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	114	T	A	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	284	Y	C	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	306	A	T	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	301	G	S	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	266	D	E	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	291	R	S	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	228	H	Q	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	780	N	T	Polymorphism	-
O43526	KCNQ2_HUMAN	217	T	A	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	214	R	W	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	159	G	E	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	201	R	C	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	213	R	W	Unclassified	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	154	Y	D	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	333	R	Q	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	210	R	C	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	213	R	Q	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	581	R	Q	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	547	R	W	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	247	S	W	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	777	P	S	Unclassified	-
O43526	KCNQ2_HUMAN	637	L	R	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	208	M	V	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	243	L	F	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	353	R	G	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	554	K	N	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	234	T	P	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	213	R	Q	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	207	R	W	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43526	KCNQ2_HUMAN	276	T	I	Disease	Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]
O43526	KCNQ2_HUMAN	196	A	V	Disease	Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]
O43529	CHSTA_HUMAN	258	D	N	Polymorphism	-
O43529	CHSTA_HUMAN	20	V	L	Polymorphism	-
O43541	SMAD6_HUMAN	287	E	K	Disease	Craniosynostosis 7 (CRS7) [MIM:617439]
O43541	SMAD6_HUMAN	465	R	C	Disease	Craniosynostosis 7 (CRS7) [MIM:617439]
O43541	SMAD6_HUMAN	484	C	F	Disease	Aortic valve disease 2 (AOVD2) [MIM:614823]
O43541	SMAD6_HUMAN	415	P	L	Disease	Aortic valve disease 2 (AOVD2) [MIM:614823]
O43541	SMAD6_HUMAN	306	T	A	Disease	Craniosynostosis 7 (CRS7) [MIM:617439]
O43541	SMAD6_HUMAN	323	P	L	Disease	Craniosynostosis 7 (CRS7) [MIM:617439]
O43541	SMAD6_HUMAN	490	I	T	Disease	Craniosynostosis 7 (CRS7) [MIM:617439]
O43541	SMAD6_HUMAN	390	G	C	Disease	Craniosynostosis 7 (CRS7) [MIM:617439]
O43541	SMAD6_HUMAN	325	A	T	Polymorphism	-
O43542	XRCC3_HUMAN	271	G	R	Polymorphism	-
O43542	XRCC3_HUMAN	241	T	M	Disease	Melanoma, cutaneous malignant 6 (CMM6) [MIM:613972]
O43542	XRCC3_HUMAN	302	R	H	Polymorphism	-
O43542	XRCC3_HUMAN	94	R	H	Polymorphism	-
O43543	XRCC2_HUMAN	238	R	S	Polymorphism	-
O43543	XRCC2_HUMAN	188	R	H	Polymorphism	-
O43543	XRCC2_HUMAN	91	R	W	Unclassified	-
O43543	XRCC2_HUMAN	220	D	V	Polymorphism	-
O43543	XRCC2_HUMAN	133	L	P	Unclassified	-
O43543	XRCC2_HUMAN	61	L	I	Polymorphism	-
O43543	XRCC2_HUMAN	75	E	Q	Polymorphism	-
O43543	XRCC2_HUMAN	95	I	V	Polymorphism	-
O43543	XRCC2_HUMAN	248	Q	E	Polymorphism	-
O43543	XRCC2_HUMAN	231	W	C	Polymorphism	-
O43543	XRCC2_HUMAN	188	R	C	Polymorphism	-
O43543	XRCC2_HUMAN	207	E	G	Polymorphism	-
O43543	XRCC2_HUMAN	164	E	Q	Polymorphism	-
O43543	XRCC2_HUMAN	194	T	M	Polymorphism	-
O43543	XRCC2_HUMAN	16	A	S	Polymorphism	-
O43543	XRCC2_HUMAN	120	C	Y	Unclassified	-
O43543	XRCC2_HUMAN	47	H	R	Polymorphism	-
O43543	XRCC2_HUMAN	118	V	A	Polymorphism	-
O43543	XRCC2_HUMAN	221	I	T	Polymorphism	-
O43543	XRCC2_HUMAN	170	E	A	Polymorphism	-
O43543	XRCC2_HUMAN	258	R	C	Polymorphism	-
O43543	XRCC2_HUMAN	199	M	L	Polymorphism	-
O43543	XRCC2_HUMAN	270	F	V	Polymorphism	-
O43548	TGM5_HUMAN	113	G	C	Disease	Peeling skin syndrome 2 (PSS2) [MIM:609796]
O43548	TGM5_HUMAN	504	V	M	Polymorphism	-
O43548	TGM5_HUMAN	67	P	S	Polymorphism	-
O43548	TGM5_HUMAN	352	A	G	Polymorphism	-
O43548	TGM5_HUMAN	521	Q	R	Polymorphism	-
O43548	TGM5_HUMAN	109	T	M	Polymorphism	-
O43555	GON2_HUMAN	16	A	V	Polymorphism	-
O43556	SGCE_HUMAN	115	Y	C	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	112	G	R	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	49	N	S	Polymorphism	-
O43556	SGCE_HUMAN	184	L	P	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	177	S	C	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	175	L	S	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	60	H	R	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	92	M	T	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	196	L	R	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	271	C	Y	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	270	W	R	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	36	T	R	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	60	H	P	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	100	W	G	Disease	Dystonia 11, myoclonic (DYT11) [MIM:159900]
O43556	SGCE_HUMAN	399	P	H	Polymorphism	-
O43557	TNF14_HUMAN	32	S	L	Polymorphism	-
O43557	TNF14_HUMAN	120	L	V	Polymorphism	-
O43557	TNF14_HUMAN	214	K	E	Polymorphism	-
O43559	FRS3_HUMAN	221	P	L	Polymorphism	-
O43570	CAH12_HUMAN	143	E	K	Disease	Hyperchlorhidrosis, isolated (HYCHL) [MIM:143860]
O43570	CAH12_HUMAN	121	H	Q	Disease	Hyperchlorhidrosis, isolated (HYCHL) [MIM:143860]
O43572	AKA10_HUMAN	249	R	H	Polymorphism	-
O43572	AKA10_HUMAN	646	I	V	Polymorphism	-
O43581	SYT7_HUMAN	332	I	N	Polymorphism	-
O43586	PPIP1_HUMAN	250	E	K	Disease	PAPA syndrome (PAPAS) [MIM:604416]
O43586	PPIP1_HUMAN	230	A	T	Disease	PAPA syndrome (PAPAS) [MIM:604416]
O43586	PPIP1_HUMAN	155	E	D	Polymorphism	-
O43586	PPIP1_HUMAN	250	E	Q	Disease	PAPA syndrome (PAPAS) [MIM:604416]
O43586	PPIP1_HUMAN	146	Q	H	Polymorphism	-
O43586	PPIP1_HUMAN	149	R	L	Polymorphism	-
O43586	PPIP1_HUMAN	48	Q	H	Polymorphism	-
O43586	PPIP1_HUMAN	156	Q	H	Polymorphism	-
O43586	PPIP1_HUMAN	106	E	K	Polymorphism	-
O43586	PPIP1_HUMAN	151	A	S	Polymorphism	-
O43592	XPOT_HUMAN	716	E	D	Polymorphism	-
O43592	XPOT_HUMAN	526	A	V	Polymorphism	-
O43593	HAIR_HUMAN	1012	D	N	Disease	Alopecia universalis congenita (ALUNC) [MIM:203655]
O43593	HAIR_HUMAN	337	G	D	Polymorphism	-
O43593	HAIR_HUMAN	620	R	Q	Polymorphism	-
O43593	HAIR_HUMAN	526	L	P	Polymorphism	-
O43593	HAIR_HUMAN	633	R	Q	Unclassified	A colorectal cancer sample
O43593	HAIR_HUMAN	1136	V	D	Disease	Alopecia universalis congenita (ALUNC) [MIM:203655]
O43593	HAIR_HUMAN	924	P	L	Polymorphism	-
O43593	HAIR_HUMAN	1022	T	A	Disease	Alopecia universalis congenita (ALUNC) [MIM:203655]
O43597	SPY2_HUMAN	106	P	S	Polymorphism	-
O43597	SPY2_HUMAN	119	R	W	Disease	IgA nephropathy 3 (IGAN3) [MIM:616818]
O43602	DCX_HUMAN	47	S	R	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	214	I	T	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	262	D	G	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	78	R	H	Polymorphism	-
O43602	DCX_HUMAN	60	N	D	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	236	V	I	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	250	I	N	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	47	S	R	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	43	L	S	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	178	R	C	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	223	G	E	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	253	G	D	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	250	I	T	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	203	T	R	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	102	R	S	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	59	R	L	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	243	F	L	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	191	P	R	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	262	D	G	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	89	R	G	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	42	T	I	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	97	L	R	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	222	T	I	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	251	A	S	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	178	R	L	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	196	R	H	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	104	I	T	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	100	G	A	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	50	K	N	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	223	G	V	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	203	T	R	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	59	R	L	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	191	P	L	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	67	G	E	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	251	A	V	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	86	D	H	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	200	N	I	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	100	G	A	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	196	R	S	Polymorphism	-
O43602	DCX_HUMAN	78	R	L	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	62	D	N	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	71	A	S	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	125	Y	D	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	186	R	C	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	125	Y	H	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	62	D	N	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	200	N	K	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	59	R	H	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	125	Y	H	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	192	R	W	Disease	Lissencephaly, X-linked 1 (LISX1) [MIM:300067]
O43602	DCX_HUMAN	192	R	W	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43602	DCX_HUMAN	203	T	A	Disease	Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O43610	SPY3_HUMAN	161	A	T	Polymorphism	-
O43612	OREX_HUMAN	16	L	R	Disease	Narcolepsy 1 (NRCLP1) [MIM:161400]
O43613	OX1R_HUMAN	408	I	V	Polymorphism	-
O43613	OX1R_HUMAN	279	R	Q	Polymorphism	-
O43613	OX1R_HUMAN	281	R	H	Polymorphism	-
O43613	OX1R_HUMAN	167	G	S	Polymorphism	-
O43614	OX2R_HUMAN	308	I	V	Polymorphism	-
O43614	OX2R_HUMAN	10	P	S	Polymorphism	-
O43614	OX2R_HUMAN	293	I	V	Polymorphism	-
O43614	OX2R_HUMAN	11	P	T	Polymorphism	-
O43623	SNAI2_HUMAN	119	D	E	Polymorphism	-
O43623	SNAI2_HUMAN	31	P	T	Polymorphism	-
O43623	SNAI2_HUMAN	234	T	I	Polymorphism	-
O43638	FOXS1_HUMAN	292	P	A	Polymorphism	-
O43653	PSCA_HUMAN	30	E	K	Polymorphism	-
O43657	TSN6_HUMAN	108	A	T	Polymorphism	-
O43663	PRC1_HUMAN	187	A	E	Polymorphism	-
O43663	PRC1_HUMAN	511	Y	C	Polymorphism	-
O43665	RGS10_HUMAN	102	A	V	Polymorphism	-
O43670	ZN207_HUMAN	224	A	S	Polymorphism	-
O43674	NDUB5_HUMAN	133	Y	H	Polymorphism	-
O43676	NDUB3_HUMAN	22	W	R	Disease	Mitochondrial complex I deficiency, nuclear type 25 (MC1DN25) [MIM:618246]
O43678	NDUA2_HUMAN	50	D	N	Unclassified	A breast cancer sample
O43681	ASNA_HUMAN	332	N	S	Polymorphism	-
O43683	BUB1_HUMAN	259	Y	C	Unclassified	Pancreatic cancer
O43683	BUB1_HUMAN	492	S	Y	Unclassified	Colorectal cancer
O43683	BUB1_HUMAN	20	G	D	Polymorphism	-
O43683	BUB1_HUMAN	36	E	D	Unclassified	Colorectal cancer
O43683	BUB1_HUMAN	648	P	R	Unclassified	Colorectal cancer
O43683	BUB1_HUMAN	534	N	D	Polymorphism	-
O43683	BUB1_HUMAN	265	H	N	Unclassified	Pancreatic cancer
O43688	PLPP2_HUMAN	180	A	V	Polymorphism	-
O43699	SIGL6_HUMAN	57	L	V	Polymorphism	-
O43699	SIGL6_HUMAN	262	L	F	Polymorphism	-
O43707	ACTN4_HUMAN	786	G	R	Polymorphism	-
O43707	ACTN4_HUMAN	153	F	L	Unclassified	Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707	ACTN4_HUMAN	787	P	S	Polymorphism	-
O43707	ACTN4_HUMAN	801	V	M	Polymorphism	-
O43707	ACTN4_HUMAN	59	W	R	Disease	Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707	ACTN4_HUMAN	255	K	E	Disease	Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707	ACTN4_HUMAN	262	S	P	Disease	Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707	ACTN4_HUMAN	310	R	Q	Unclassified	Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707	ACTN4_HUMAN	427	A	T	Disease	Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707	ACTN4_HUMAN	259	T	I	Disease	Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707	ACTN4_HUMAN	72	E	Q	Disease	Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707	ACTN4_HUMAN	784	A	V	Unclassified	-
O43707	ACTN4_HUMAN	748	N	D	Disease	Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707	ACTN4_HUMAN	798	G	D	Unclassified	-
O43707	ACTN4_HUMAN	262	S	F	Disease	Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707	ACTN4_HUMAN	787	P	L	Polymorphism	-
O43707	ACTN4_HUMAN	793	C	Y	Unclassified	-
O43708	MAAI_HUMAN	82	M	T	Polymorphism	-
O43708	MAAI_HUMAN	133	N	H	Polymorphism	-
O43708	MAAI_HUMAN	99	V	M	Disease	Maleylacetoacetate isomerase deficiency (MAAID) [MIM:617596]
O43708	MAAI_HUMAN	150	A	V	Disease	Maleylacetoacetate isomerase deficiency (MAAID) [MIM:617596]
O43708	MAAI_HUMAN	42	R	G	Polymorphism	-
O43708	MAAI_HUMAN	32	K	E	Polymorphism	-
O43716	GATC_HUMAN	3	S	L	Polymorphism	-
O43719	HTSF1_HUMAN	478	G	A	Polymorphism	-
O43719	HTSF1_HUMAN	526	N	T	Polymorphism	-
O43719	HTSF1_HUMAN	678	D	G	Polymorphism	-
O43731	ERD23_HUMAN	199	V	G	Polymorphism	-
O43734	CIKS_HUMAN	19	D	N	Disease	Psoriasis 13 (PSORS13) [MIM:614070]
O43734	CIKS_HUMAN	83	R	W	Polymorphism	-
O43734	CIKS_HUMAN	536	T	I	Disease	Candidiasis, familial, 8 (CANDF8) [MIM:615527]
O43734	CIKS_HUMAN	332	H	Q	Polymorphism	-
O43736	ITM2A_HUMAN	72	A	V	Polymorphism	-
O43736	ITM2A_HUMAN	230	R	T	Polymorphism	-
O43745	CHP2_HUMAN	127	R	P	Polymorphism	-
O43747	AP1G1_HUMAN	195	V	G	Polymorphism	-
O43747	AP1G1_HUMAN	685	P	H	Polymorphism	-
O43749	OR1F1_HUMAN	126	V	M	Polymorphism	-
O43749	OR1F1_HUMAN	75	F	S	Polymorphism	-
O43759	SNG1_HUMAN	222	D	G	Unclassified	-
O43766	LIAS_HUMAN	249	R	H	Disease	Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) [MIM:614462]
O43772	MCAT_HUMAN	133	R	W	Disease	Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138]
O43772	MCAT_HUMAN	238	Q	R	Disease	Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138]
O43772	MCAT_HUMAN	231	D	H	Disease	Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138]
O43781	DYRK3_HUMAN	239	M	L	Polymorphism	-
O43790	KRT86_HUMAN	114	N	D	Disease	Monilethrix (MNLIX) [MIM:158000]
O43790	KRT86_HUMAN	114	N	H	Disease	Monilethrix (MNLIX) [MIM:158000]
O43790	KRT86_HUMAN	409	L	P	Disease	Monilethrix (MNLIX) [MIM:158000]
O43790	KRT86_HUMAN	410	L	P	Disease	Monilethrix (MNLIX) [MIM:158000]
O43790	KRT86_HUMAN	413	E	D	Disease	Monilethrix (MNLIX) [MIM:158000]
O43790	KRT86_HUMAN	413	E	K	Disease	Monilethrix (MNLIX) [MIM:158000]
O43790	KRT86_HUMAN	402	E	K	Disease	Monilethrix (MNLIX) [MIM:158000]
O43790	KRT86_HUMAN	402	E	Q	Disease	Monilethrix (MNLIX) [MIM:158000]
O43795	MYO1B_HUMAN	969	E	K	Unclassified	A melanoma patient
O43795	MYO1B_HUMAN	385	V	G	Unclassified	A colorectal cancer sample
O43795	MYO1B_HUMAN	385	V	I	Unclassified	A colorectal cancer sample
O43805	SSNA1_HUMAN	17	K	N	Unclassified	A breast cancer sample
O43808	PM34_HUMAN	98	H	R	Polymorphism	-
O43818	U3IP2_HUMAN	342	A	E	Unclassified	A breast cancer sample
O43818	U3IP2_HUMAN	8	R	G	Unclassified	A breast cancer sample
O43819	SCO2_HUMAN	171	R	W	Disease	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377]
O43819	SCO2_HUMAN	133	C	Y	Disease	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377]
O43819	SCO2_HUMAN	193	G	S	Disease	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377]
O43819	SCO2_HUMAN	20	R	P	Polymorphism	-
O43819	SCO2_HUMAN	258	M	T	Disease	Leigh syndrome (LS) [MIM:256000]
O43819	SCO2_HUMAN	112	R	W	Unclassified	Myopia 6 (MYP6) [MIM:608908]
O43819	SCO2_HUMAN	140	E	K	Disease	Myopia 6 (MYP6) [MIM:608908]
O43819	SCO2_HUMAN	225	S	F	Disease	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377]
O43819	SCO2_HUMAN	193	G	S	Disease	Leigh syndrome (LS) [MIM:256000]
O43819	SCO2_HUMAN	259	A	V	Disease	Myopia 6 (MYP6) [MIM:608908]
O43819	SCO2_HUMAN	120	R	W	Unclassified	Myopia 6 (MYP6) [MIM:608908]
O43819	SCO2_HUMAN	114	R	H	Disease	Myopia 6 (MYP6) [MIM:608908]
O43819	SCO2_HUMAN	140	E	K	Disease	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) [MIM:604377]
O43820	HYAL3_HUMAN	113	H	Y	Polymorphism	-
O43822	CF410_HUMAN	153	G	S	Polymorphism	-
O43822	CF410_HUMAN	116	P	L	Disease	Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271]
O43822	CF410_HUMAN	61	C	Y	Disease	Retinal dystrophy with or without macular staphyloma (RDMS) [MIM:617547]
O43822	CF410_HUMAN	73	R	P	Disease	Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271]
O43822	CF410_HUMAN	224	L	P	Disease	Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271]
O43822	CF410_HUMAN	150	T	I	Polymorphism	-
O43822	CF410_HUMAN	107	Y	H	Disease	Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271]
O43822	CF410_HUMAN	111	V	M	Disease	Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271]
O43822	CF410_HUMAN	107	Y	C	Disease	Retinal dystrophy with or without macular staphyloma (RDMS) [MIM:617547]
O43823	AKAP8_HUMAN	664	Q	H	Unclassified	A breast cancer sample
O43826	G6PT1_HUMAN	183	C	R	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	301	H	P	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	176	C	R	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	148	A	V	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	198	N	I	Polymorphism	-
O43826	G6PT1_HUMAN	278	I	N	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	229	L	P	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	27	N	K	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	246	W	R	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	24	Y	H	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	367	A	T	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	300	R	H	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	50	G	R	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	191	P	L	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	28	R	C	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	20	G	D	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	300	R	C	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	339	G	C	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	55	S	R	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	153	P	L	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	373	A	D	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	149	G	E	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	54	S	R	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	339	G	D	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	88	G	D	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	118	W	R	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	133	Q	P	Disease	Glycogen storage disease 1C (GSD1C) [MIM:232240]
O43826	G6PT1_HUMAN	150	G	R	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	85	L	P	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	50	G	E	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	68	G	R	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43826	G6PT1_HUMAN	376	G	S	Disease	Glycogen storage disease 1C (GSD1C) [MIM:232240]
O43826	G6PT1_HUMAN	28	R	H	Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]
O43827	ANGL7_HUMAN	51	E	D	Polymorphism	-
O43827	ANGL7_HUMAN	140	R	H	Polymorphism	-
O43827	ANGL7_HUMAN	175	Q	H	Polymorphism	-
O43829	ZBT14_HUMAN	77	E	G	Polymorphism	-
O43829	ZBT14_HUMAN	139	Q	R	Polymorphism	-
O43837	IDH3B_HUMAN	166	Q	H	Polymorphism	-
O43837	IDH3B_HUMAN	132	L	P	Disease	Retinitis pigmentosa 46 (RP46) [MIM:612572]
O43837	IDH3B_HUMAN	3	A	V	Polymorphism	-
O43837	IDH3B_HUMAN	360	T	A	Polymorphism	-
O43847	NRDC_HUMAN	832	Y	S	Polymorphism	-
O43852	CALU_HUMAN	4	R	Q	Polymorphism	-
O43861	ATP9B_HUMAN	732	M	L	Polymorphism	-
O43861	ATP9B_HUMAN	39	S	G	Polymorphism	-
O43861	ATP9B_HUMAN	108	R	Q	Polymorphism	-
O43861	ATP9B_HUMAN	504	D	N	Polymorphism	-
O43866	CD5L_HUMAN	117	D	E	Polymorphism	-
O43868	S28A2_HUMAN	385	E	K	Polymorphism	-
O43868	S28A2_HUMAN	12	L	P	Polymorphism	-
O43868	S28A2_HUMAN	75	S	R	Polymorphism	-
O43868	S28A2_HUMAN	245	S	T	Polymorphism	-
O43868	S28A2_HUMAN	172	E	D	Polymorphism	-
O43868	S28A2_HUMAN	355	F	S	Polymorphism	-
O43868	S28A2_HUMAN	612	M	T	Polymorphism	-
O43868	S28A2_HUMAN	22	P	L	Polymorphism	-
O43868	S28A2_HUMAN	462	L	F	Polymorphism	-
O43868	S28A2_HUMAN	163	L	W	Polymorphism	-
O43868	S28A2_HUMAN	142	R	H	Polymorphism	-
O43868	S28A2_HUMAN	509	G	E	Polymorphism	-
O43869	OR2T1_HUMAN	25	H	R	Polymorphism	-
O43895	XPP2_HUMAN	223	V	I	Polymorphism	-
O43895	XPP2_HUMAN	215	T	I	Polymorphism	-
O43895	XPP2_HUMAN	232	K	N	Polymorphism	-
O43896	KIF1C_HUMAN	169	R	W	Disease	Spastic ataxia 2, autosomal recessive (SPAX2) [MIM:611302]
O43897	TLL1_HUMAN	629	I	V	Disease	Atrial septal defect 6 (ASD6) [MIM:613087]
O43897	TLL1_HUMAN	182	M	L	Disease	Atrial septal defect 6 (ASD6) [MIM:613087]
O43897	TLL1_HUMAN	238	V	A	Disease	Atrial septal defect 6 (ASD6) [MIM:613087]
O43897	TLL1_HUMAN	688	L	V	Unclassified	A breast cancer sample
O43897	TLL1_HUMAN	958	T	A	Polymorphism	-
O43900	PRIC3_HUMAN	558	E	D	Unclassified	A breast cancer sample
O43900	PRIC3_HUMAN	343	R	C	Polymorphism	-
O43908	NKG2F_HUMAN	104	N	S	Polymorphism	-
O43908	NKG2F_HUMAN	29	I	S	Polymorphism	-
O43909	EXTL3_HUMAN	706	L	P	Polymorphism	-
O43909	EXTL3_HUMAN	646	S	C	Unclassified	-
O43909	EXTL3_HUMAN	670	Y	D	Disease	Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425]
O43909	EXTL3_HUMAN	442	V	L	Polymorphism	-
O43909	EXTL3_HUMAN	513	R	C	Disease	Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425]
O43909	EXTL3_HUMAN	550	A	V	Polymorphism	-
O43909	EXTL3_HUMAN	461	P	L	Disease	Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425]
O43909	EXTL3_HUMAN	657	N	S	Disease	Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425]
O43909	EXTL3_HUMAN	339	R	W	Disease	Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425]
O43913	ORC5_HUMAN	37	G	R	Polymorphism	-
O43913	ORC5_HUMAN	52	K	N	Polymorphism	-
O43913	ORC5_HUMAN	166	R	C	Polymorphism	-
O43914	TYOBP_HUMAN	23	R	C	Unclassified	-
O43914	TYOBP_HUMAN	84	I	V	Unclassified	-
O43914	TYOBP_HUMAN	89	S	L	Unclassified	-
O43914	TYOBP_HUMAN	47	V	A	Unclassified	-
O43914	TYOBP_HUMAN	2	G	E	Unclassified	-
O43914	TYOBP_HUMAN	80	R	W	Unclassified	-
O43914	TYOBP_HUMAN	55	V	L	Unclassified	-
O43914	TYOBP_HUMAN	111	Y	H	Polymorphism	-
O43918	AIRE_HUMAN	77	F	S	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	15	R	C	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	83	K	E	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	252	P	L	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	299	C	W	Unclassified	-
O43918	AIRE_HUMAN	328	R	Q	Polymorphism	-
O43918	AIRE_HUMAN	328	R	W	Unclassified	-
O43918	AIRE_HUMAN	29	L	P	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	16	T	M	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	539	P	L	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	319	H	P	Unclassified	-
O43918	AIRE_HUMAN	332	S	R	Unclassified	-
O43918	AIRE_HUMAN	80	V	L	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	309	I	M	Unclassified	-
O43918	AIRE_HUMAN	90	Y	C	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	316	R	Q	Unclassified	-
O43918	AIRE_HUMAN	93	L	R	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	78	W	R	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	15	R	L	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	85	Y	C	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	278	S	R	Polymorphism	-
O43918	AIRE_HUMAN	21	A	V	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	303	R	W	Unclassified	-
O43918	AIRE_HUMAN	305	G	S	Unclassified	-
O43918	AIRE_HUMAN	228	G	W	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	316	R	W	Unclassified	-
O43918	AIRE_HUMAN	302	C	Y	Unclassified	-
O43918	AIRE_HUMAN	298	E	K	Unclassified	-
O43918	AIRE_HUMAN	303	R	Q	Unclassified	-
O43918	AIRE_HUMAN	306	G	R	Unclassified	-
O43918	AIRE_HUMAN	301	V	M	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	311	C	Y	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	326	P	Q	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	326	P	L	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	28	L	P	Disease	Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918	AIRE_HUMAN	484	V	A	Unclassified	-
O43920	NDUS5_HUMAN	96	P	S	Unclassified	-
O43929	ORC4_HUMAN	78	N	S	Polymorphism	-
O43929	ORC4_HUMAN	174	Y	C	Disease	Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800]
O43929	ORC4_HUMAN	56	L	V	Polymorphism	-
O43933	PEX1_HUMAN	843	G	D	Disease	Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100]
O43933	PEX1_HUMAN	843	G	D	Disease	Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]
O43933	PEX1_HUMAN	1237	A	E	Disease	Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]
O43933	PEX1_HUMAN	843	G	D	Disease	Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]
O43933	PEX1_HUMAN	593	G	R	Disease	Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]
O43933	PEX1_HUMAN	696	I	M	Polymorphism	-
O43933	PEX1_HUMAN	664	L	P	Disease	Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]
O43933	PEX1_HUMAN	998	R	Q	Disease	Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]
O43933	PEX1_HUMAN	640	I	R	Polymorphism	-
O43933	PEX1_HUMAN	581	R	P	Disease	Heimler syndrome 1 (HMLR1) [MIM:234580]
O43933	PEX1_HUMAN	798	R	G	Disease	Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]
O43933	PEX1_HUMAN	948	R	Q	Polymorphism	-
O43933	PEX1_HUMAN	989	I	T	Disease	Heimler syndrome 1 (HMLR1) [MIM:234580]
O43933	PEX1_HUMAN	705	L	W	Disease	Heimler syndrome 1 (HMLR1) [MIM:234580]
O43933	PEX1_HUMAN	664	L	P	Disease	Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100]
O43933	PEX1_HUMAN	989	I	T	Disease	Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]
O43933	PEX1_HUMAN	590	L	R	Disease	Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]
O43934	MFS11_HUMAN	428	S	F	Polymorphism	-
O60216	RAD21_HUMAN	376	P	R	Disease	Cornelia de Lange syndrome 4 (CDLS4) [MIM:614701]
O60216	RAD21_HUMAN	622	A	T	Disease	Mungan syndrome (MGS) [MIM:611376]
O60216	RAD21_HUMAN	585	C	R	Disease	Cornelia de Lange syndrome 4 (CDLS4) [MIM:614701]
O60216	RAD21_HUMAN	481	G	R	Polymorphism	-
O60218	AK1BA_HUMAN	87	P	S	Polymorphism	-
O60218	AK1BA_HUMAN	313	N	D	Polymorphism	-
O60218	AK1BA_HUMAN	286	M	T	Polymorphism	-
O60220	TIM8A_HUMAN	66	C	W	Disease	Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]
O60225	SSX5_HUMAN	19	E	Q	Polymorphism	-
O60229	KALRN_HUMAN	1326	E	D	Polymorphism	-
O60229	KALRN_HUMAN	213	R	W	Unclassified	A colorectal cancer sample
O60229	KALRN_HUMAN	1897	S	C	Unclassified	A breast cancer sample
O60229	KALRN_HUMAN	196	S	L	Polymorphism	-
O60229	KALRN_HUMAN	1930	R	M	Polymorphism	-
O60231	DHX16_HUMAN	352	K	E	Polymorphism	-
O60231	DHX16_HUMAN	502	L	F	Polymorphism	-
O60231	DHX16_HUMAN	566	D	G	Polymorphism	-
O60232	ZNRD2_HUMAN	21	T	M	Polymorphism	-
O60234	GMFG_HUMAN	136	E	K	Polymorphism	-
O60234	GMFG_HUMAN	122	E	K	Polymorphism	-
O60237	MYPT2_HUMAN	182	V	I	Polymorphism	-
O60237	MYPT2_HUMAN	836	R	K	Polymorphism	-
O60240	PLIN1_HUMAN	271	A	V	Polymorphism	-
O60240	PLIN1_HUMAN	210	K	E	Polymorphism	-
O60240	PLIN1_HUMAN	194	P	A	Polymorphism	-
O60240	PLIN1_HUMAN	348	S	L	Polymorphism	-
O60241	AGRB2_HUMAN	1465	R	W	Disease	-
O60242	AGRB3_HUMAN	503	N	S	Polymorphism	-
O60243	H6ST1_HUMAN	306	R	W	Disease	Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
O60243	H6ST1_HUMAN	323	R	Q	Disease	Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
O60243	H6ST1_HUMAN	306	R	Q	Disease	Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
O60243	H6ST1_HUMAN	382	R	W	Disease	Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
O60243	H6ST1_HUMAN	218	P	S	Disease	Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
O60243	H6ST1_HUMAN	404	M	V	Disease	Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
O60244	MED14_HUMAN	1325	F	L	Unclassified	A breast cancer sample
O60258	FGF17_HUMAN	177	R	H	Disease	Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270]
O60258	FGF17_HUMAN	108	I	T	Disease	Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270]
O60258	FGF17_HUMAN	187	N	S	Disease	Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270]
O60259	KLK8_HUMAN	154	V	I	Polymorphism	-
O60260	PRKN_HUMAN	15	V	M	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	212	C	Y	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	46	A	P	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	167	S	N	Polymorphism	-
O60260	PRKN_HUMAN	37	P	L	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	161	K	N	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	92	A	V	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	42	R	P	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	100	Q	H	Polymorphism	-
O60260	PRKN_HUMAN	289	C	G	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	192	M	V	Unclassified	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	240	T	M	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	82	A	E	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	430	G	D	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	351	T	P	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	256	R	C	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	371	A	T	Unclassified	-
O60260	PRKN_HUMAN	33	R	Q	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	311	Q	R	Unclassified	-
O60260	PRKN_HUMAN	275	R	W	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	328	G	E	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	253	C	Y	Disease	Parkinson disease (PARK) [MIM:168600]
O60260	PRKN_HUMAN	211	K	N	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	240	T	R	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	380	V	L	Polymorphism	-
O60260	PRKN_HUMAN	280	D	N	Disease	Parkinson disease (PARK) [MIM:168600]
O60260	PRKN_HUMAN	284	G	R	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	366	R	W	Polymorphism	-
O60260	PRKN_HUMAN	402	R	C	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	437	P	L	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	275	R	W	Disease	Parkinson disease (PARK) [MIM:168600]
O60260	PRKN_HUMAN	339	A	S	Polymorphism	-
O60260	PRKN_HUMAN	56	V	E	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	415	T	N	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	192	M	L	Unclassified	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	271	R	S	Polymorphism	-
O60260	PRKN_HUMAN	431	C	F	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	441	C	R	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60260	PRKN_HUMAN	334	R	C	Polymorphism	-
O60260	PRKN_HUMAN	256	R	C	Disease	Parkinson disease (PARK) [MIM:168600]
O60260	PRKN_HUMAN	394	D	N	Polymorphism	-
O60260	PRKN_HUMAN	418	C	R	Disease	Parkinson disease 2 (PARK2) [MIM:600116]
O60266	ADCY3_HUMAN	64	N	I	Polymorphism	-
O60266	ADCY3_HUMAN	107	S	P	Polymorphism	-
O60268	K0513_HUMAN	100	R	H	Polymorphism	-
O60269	GRIN2_HUMAN	39	L	V	Polymorphism	-
O60269	GRIN2_HUMAN	202	G	W	Polymorphism	-
O60269	GRIN2_HUMAN	328	S	C	Polymorphism	-
O60269	GRIN2_HUMAN	91	W	R	Polymorphism	-
O60269	GRIN2_HUMAN	242	R	G	Polymorphism	-
O60269	GRIN2_HUMAN	375	V	A	Polymorphism	-
O60269	GRIN2_HUMAN	5	R	H	Polymorphism	-
O60269	GRIN2_HUMAN	233	A	S	Polymorphism	-
O60269	GRIN2_HUMAN	40	R	H	Polymorphism	-
O60269	GRIN2_HUMAN	47	V	M	Polymorphism	-
O60269	GRIN2_HUMAN	241	V	M	Polymorphism	-
O60269	GRIN2_HUMAN	400	L	P	Polymorphism	-
O60269	GRIN2_HUMAN	100	T	P	Polymorphism	-
O60269	GRIN2_HUMAN	104	S	G	Polymorphism	-
O60271	JIP4_HUMAN	1320	N	S	Polymorphism	-
O60279	SUSD5_HUMAN	378	E	D	Polymorphism	-
O60279	SUSD5_HUMAN	216	R	K	Polymorphism	-
O60279	SUSD5_HUMAN	52	L	F	Polymorphism	-
O60279	SUSD5_HUMAN	228	R	K	Polymorphism	-
O60279	SUSD5_HUMAN	40	F	L	Polymorphism	-
O60281	ZN292_HUMAN	1740	I	V	Polymorphism	-
O60281	ZN292_HUMAN	2045	V	I	Polymorphism	-
O60282	KIF5C_HUMAN	237	E	K	Disease	Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) [MIM:615282]
O60282	KIF5C_HUMAN	237	E	V	Disease	Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) [MIM:615282]
O60284	ST18_HUMAN	515	R	C	Polymorphism	-
O60285	NUAK1_HUMAN	543	P	R	Polymorphism	-
O60285	NUAK1_HUMAN	419	G	D	Polymorphism	-
O60287	NPA1P_HUMAN	1791	V	L	Polymorphism	-
O60287	NPA1P_HUMAN	2071	P	R	Polymorphism	-
O60290	ZN862_HUMAN	178	I	T	Polymorphism	-
O60292	SI1L3_HUMAN	148	D	Y	Unclassified	-
O60292	SI1L3_HUMAN	1450	P	A	Polymorphism	-
O60292	SI1L3_HUMAN	1371	G	S	Polymorphism	-
O60293	ZC3H1_HUMAN	1807	K	R	Polymorphism	-
O60293	ZC3H1_HUMAN	1006	E	K	Polymorphism	-
O60294	TYW4_HUMAN	518	T	A	Polymorphism	-
O60294	TYW4_HUMAN	67	V	L	Polymorphism	-
O60294	TYW4_HUMAN	149	C	Y	Polymorphism	-
O60294	TYW4_HUMAN	141	R	S	Polymorphism	-
O60296	TRAK2_HUMAN	528	T	I	Polymorphism	-
O60296	TRAK2_HUMAN	142	V	I	Polymorphism	-
O60296	TRAK2_HUMAN	863	I	N	Polymorphism	-
O60303	K0556_HUMAN	1597	V	I	Polymorphism	-
O60303	K0556_HUMAN	535	A	S	Polymorphism	-
O60303	K0556_HUMAN	1368	R	Q	Polymorphism	-
O60303	K0556_HUMAN	1240	A	V	Polymorphism	-
O60303	K0556_HUMAN	885	R	Q	Polymorphism	-
O60303	K0556_HUMAN	522	T	M	Polymorphism	-
O60303	K0556_HUMAN	1267	A	T	Polymorphism	-
O60307	MAST3_HUMAN	861	G	S	Polymorphism	-
O60307	MAST3_HUMAN	883	G	S	Polymorphism	-
O60307	MAST3_HUMAN	203	R	Q	Polymorphism	-
O60308	CE104_HUMAN	686	A	V	Polymorphism	-
O60308	CE104_HUMAN	414	L	I	Polymorphism	-
O60309	L37A3_HUMAN	1215	K	E	Polymorphism	-
O60309	L37A3_HUMAN	1590	G	A	Polymorphism	-
O60312	AT10A_HUMAN	1298	R	S	Polymorphism	-
O60312	AT10A_HUMAN	1188	I	V	Polymorphism	-
O60312	AT10A_HUMAN	784	A	T	Polymorphism	-
O60312	AT10A_HUMAN	504	R	H	Polymorphism	-
O60312	AT10A_HUMAN	1397	A	V	Polymorphism	-
O60312	AT10A_HUMAN	208	R	W	Unclassified	-
O60312	AT10A_HUMAN	353	S	Y	Polymorphism	-
O60312	AT10A_HUMAN	1198	V	M	Polymorphism	-
O60312	AT10A_HUMAN	834	E	K	Polymorphism	-
O60312	AT10A_HUMAN	532	T	M	Polymorphism	-
O60312	AT10A_HUMAN	1172	W	C	Polymorphism	-
O60312	AT10A_HUMAN	1179	A	T	Polymorphism	-
O60313	OPA1_HUMAN	438	D	V	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	593	L	P	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	273	D	A	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	487	E	K	Disease	Behr syndrome (BEHRS) [MIM:210000]
O60313	OPA1_HUMAN	384	L	F	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	785	Q	R	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	768	G	D	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	503	T	K	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	502	V	G	Polymorphism	-
O60313	OPA1_HUMAN	574	L	P	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	590	R	Q	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	646	S	L	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	505	K	N	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	167	P	L	Polymorphism	-
O60313	OPA1_HUMAN	330	T	S	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	300	G	E	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	841	Y	C	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	781	R	W	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	357	A	T	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	290	R	W	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	949	L	P	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	192	A	V	Polymorphism	-
O60313	OPA1_HUMAN	8	A	S	Unclassified	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	430	N	D	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	582	Y	C	Disease	Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
O60313	OPA1_HUMAN	907	E	G	Polymorphism	-
O60313	OPA1_HUMAN	377	V	I	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	80	Y	C	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	882	R	L	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	445	R	H	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	402	V	M	Disease	Behr syndrome (BEHRS) [MIM:210000]
O60313	OPA1_HUMAN	158	S	N	Polymorphism	-
O60313	OPA1_HUMAN	571	R	H	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	487	E	K	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	439	G	V	Disease	Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
O60313	OPA1_HUMAN	939	L	P	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	400	P	A	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	590	R	W	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	272	L	P	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	823	S	Y	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	396	L	R	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	439	G	V	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	887	L	P	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	459	G	E	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	545	S	R	Disease	Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
O60313	OPA1_HUMAN	357	A	T	Disease	Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
O60313	OPA1_HUMAN	932	R	C	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	551	C	Y	Disease	Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
O60313	OPA1_HUMAN	470	D	G	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	382	I	M	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	728	N	K	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	468	K	E	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	910	V	D	Disease	Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
O60313	OPA1_HUMAN	382	I	M	Disease	Behr syndrome (BEHRS) [MIM:210000]
O60313	OPA1_HUMAN	551	C	Y	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	550	D	N	Polymorphism	-
O60313	OPA1_HUMAN	534	L	R	Disease	Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14) [MIM:616896]
O60313	OPA1_HUMAN	449	T	P	Disease	Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
O60313	OPA1_HUMAN	445	R	H	Disease	Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
O60313	OPA1_HUMAN	396	L	P	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	95	T	M	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	290	R	Q	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	449	T	R	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	310	Q	R	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	102	Y	C	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	270	E	K	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60313	OPA1_HUMAN	545	S	R	Disease	Optic atrophy 1 (OPA1) [MIM:165500]
O60315	ZEB2_HUMAN	1119	Q	R	Disease	Mowat-Wilson syndrome (MOWS) [MIM:235730]
O60315	ZEB2_HUMAN	983	D	N	Unclassified	A colorectal cancer sample
O60315	ZEB2_HUMAN	953	R	G	Disease	Mowat-Wilson syndrome (MOWS) [MIM:235730]
O60318	GANP_HUMAN	1449	D	E	Polymorphism	-
O60318	GANP_HUMAN	1870	L	R	Polymorphism	-
O60318	GANP_HUMAN	1051	P	L	Polymorphism	-
O60318	GANP_HUMAN	1062	V	M	Polymorphism	-
O60318	GANP_HUMAN	333	R	L	Polymorphism	-
O60318	GANP_HUMAN	1941	A	V	Polymorphism	-
O60318	GANP_HUMAN	1272	V	M	Unclassified	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124]
O60318	GANP_HUMAN	1314	R	W	Polymorphism	-
O60318	GANP_HUMAN	1577	E	K	Unclassified	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124]
O60318	GANP_HUMAN	870	L	S	Unclassified	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124]
O60318	GANP_HUMAN	878	R	H	Unclassified	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124]
O60318	GANP_HUMAN	1831	R	C	Polymorphism	-
O60318	GANP_HUMAN	951	S	P	Unclassified	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124]
O60318	GANP_HUMAN	762	M	T	Unclassified	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124]
O60318	GANP_HUMAN	1576	V	I	Polymorphism	-
O60318	GANP_HUMAN	413	P	L	Polymorphism	-
O60318	GANP_HUMAN	288	M	V	Polymorphism	-
O60318	GANP_HUMAN	1795	A	T	Polymorphism	-
O60318	GANP_HUMAN	102	S	L	Polymorphism	-
O60318	GANP_HUMAN	409	L	V	Unclassified	A colorectal cancer sample
O60318	GANP_HUMAN	915	E	K	Unclassified	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124]
O60318	GANP_HUMAN	867	A	D	Unclassified	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124]
O60320	F1891_HUMAN	393	R	H	Polymorphism	-
O60320	F1891_HUMAN	228	G	S	Polymorphism	-
O60320	F1891_HUMAN	314	G	D	Polymorphism	-
O60320	F1891_HUMAN	431	V	A	Polymorphism	-
O60320	F1891_HUMAN	375	H	R	Polymorphism	-
O60331	PI51C_HUMAN	253	D	N	Disease	Lethal congenital contracture syndrome 3 (LCCS3) [MIM:611369]
O60333	KIF1B_HUMAN	1527	S	N	Polymorphism	-
O60333	KIF1B_HUMAN	1674	E	K	Polymorphism	-
O60333	KIF1B_HUMAN	34	S	L	Polymorphism	-
O60333	KIF1B_HUMAN	1133	Y	C	Polymorphism	-
O60333	KIF1B_HUMAN	873	T	I	Polymorphism	-
O60333	KIF1B_HUMAN	692	E	V	Polymorphism	-
O60333	KIF1B_HUMAN	1600	V	M	Polymorphism	-
O60333	KIF1B_HUMAN	98	Q	L	Disease	Charcot-Marie-Tooth disease 2A1 (CMT2A1) [MIM:118210]
O60333	KIF1B_HUMAN	1263	P	S	Polymorphism	-
O60336	MABP1_HUMAN	313	L	V	Polymorphism	-
O60336	MABP1_HUMAN	544	R	Q	Unclassified	Nephronophthisis 20 (NPHP20) [MIM:617271]
O60336	MABP1_HUMAN	204	Y	S	Polymorphism	-
O60336	MABP1_HUMAN	1240	R	P	Polymorphism	-
O60337	MARH6_HUMAN	622	P	L	Polymorphism	-
O60341	KDM1A_HUMAN	556	D	G	Disease	Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728]
O60341	KDM1A_HUMAN	379	E	K	Disease	Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728]
O60341	KDM1A_HUMAN	761	Y	H	Disease	Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728]
O60343	TBCD4_HUMAN	819	V	I	Polymorphism	-
O60343	TBCD4_HUMAN	1284	L	I	Polymorphism	-
O60343	TBCD4_HUMAN	1275	V	A	Polymorphism	-
O60343	TBCD4_HUMAN	619	P	L	Polymorphism	-
O60343	TBCD4_HUMAN	1119	V	A	Polymorphism	-
O60343	TBCD4_HUMAN	1147	T	M	Polymorphism	-
O60346	PHLP1_HUMAN	1118	S	T	Polymorphism	-
O60353	FZD6_HUMAN	405	R	Q	Polymorphism	-
O60353	FZD6_HUMAN	152	Q	E	Polymorphism	-
O60353	FZD6_HUMAN	664	A	E	Polymorphism	-
O60353	FZD6_HUMAN	511	R	C	Disease	Nail disorder, non-syndromic congenital, 10 (NDNC10) [MIM:614157]
O60353	FZD6_HUMAN	140	H	Y	Polymorphism	-
O60353	FZD6_HUMAN	511	R	H	Polymorphism	-
O60353	FZD6_HUMAN	345	M	L	Polymorphism	-
O60353	FZD6_HUMAN	620	S	T	Polymorphism	-
O60353	FZD6_HUMAN	604	G	R	Polymorphism	-
O60353	FZD6_HUMAN	33	M	V	Polymorphism	-
O60353	FZD6_HUMAN	388	A	D	Polymorphism	-
O60383	GDF9_HUMAN	374	P	L	Polymorphism	-
O60383	GDF9_HUMAN	428	S	T	Unclassified	Premature ovarian failure 14 (POF14) [MIM:618014]
O60383	GDF9_HUMAN	146	R	C	Unclassified	Premature ovarian failure 14 (POF14) [MIM:618014]
O60383	GDF9_HUMAN	238	T	A	Unclassified	Premature ovarian failure 14 (POF14) [MIM:618014]
O60383	GDF9_HUMAN	67	K	E	Unclassified	Premature ovarian failure 14 (POF14) [MIM:618014]
O60383	GDF9_HUMAN	216	V	M	Unclassified	Premature ovarian failure 14 (POF14) [MIM:618014]
O60383	GDF9_HUMAN	103	P	S	Unclassified	Premature ovarian failure 14 (POF14) [MIM:618014]
O60383	GDF9_HUMAN	186	S	Y	Unclassified	Premature ovarian failure 14 (POF14) [MIM:618014]
O60383	GDF9_HUMAN	121	T	I	Polymorphism	-
O60383	GDF9_HUMAN	454	R	C	Polymorphism	-
O60383	GDF9_HUMAN	57	D	Y	Unclassified	Premature ovarian failure 14 (POF14) [MIM:618014]
O60391	NMD3B_HUMAN	414	W	R	Polymorphism	-
O60391	NMD3B_HUMAN	577	T	M	Polymorphism	-
O60391	NMD3B_HUMAN	928	V	M	Polymorphism	-
O60391	NMD3B_HUMAN	194	R	W	Polymorphism	-
O60391	NMD3B_HUMAN	678	S	L	Polymorphism	-
O60391	NMD3B_HUMAN	404	R	W	Polymorphism	-
O60391	NMD3B_HUMAN	247	R	W	Polymorphism	-
O60391	NMD3B_HUMAN	845	A	T	Polymorphism	-
O60391	NMD3B_HUMAN	608	R	H	Polymorphism	-
O60391	NMD3B_HUMAN	470	R	H	Unclassified	-
O60391	NMD3B_HUMAN	641	T	M	Unclassified	-
O60391	NMD3B_HUMAN	583	A	V	Polymorphism	-
O60391	NMD3B_HUMAN	515	G	S	Polymorphism	-
O60391	NMD3B_HUMAN	598	R	C	Polymorphism	-
O60391	NMD3B_HUMAN	180	R	C	Polymorphism	-
O60391	NMD3B_HUMAN	247	R	Q	Polymorphism	-
O60391	NMD3B_HUMAN	285	A	G	Unclassified	-
O60391	NMD3B_HUMAN	612	T	A	Polymorphism	-
O60391	NMD3B_HUMAN	336	R	C	Unclassified	-
O60391	NMD3B_HUMAN	381	P	L	Unclassified	-
O60391	NMD3B_HUMAN	472	L	P	Unclassified	-
O60391	NMD3B_HUMAN	332	E	K	Polymorphism	-
O60391	NMD3B_HUMAN	948	A	V	Unclassified	-
O60391	NMD3B_HUMAN	919	E	D	Unclassified	-
O60391	NMD3B_HUMAN	350	R	H	Polymorphism	-
O60391	NMD3B_HUMAN	157	T	M	Polymorphism	-
O60393	NOBOX_HUMAN	371	K	T	Unclassified	Premature ovarian failure 5 (POF5) [MIM:611548]
O60393	NOBOX_HUMAN	350	V	L	Disease	Premature ovarian failure 5 (POF5) [MIM:611548]
O60393	NOBOX_HUMAN	342	S	T	Disease	Premature ovarian failure 5 (POF5) [MIM:611548]
O60393	NOBOX_HUMAN	452	D	N	Unclassified	Premature ovarian failure 5 (POF5) [MIM:611548]
O60393	NOBOX_HUMAN	355	R	H	Disease	Premature ovarian failure 5 (POF5) [MIM:611548]
O60393	NOBOX_HUMAN	517	F	L	Polymorphism	-
O60393	NOBOX_HUMAN	91	G	W	Unclassified	Premature ovarian failure 5 (POF5) [MIM:611548]
O60393	NOBOX_HUMAN	482	G	S	Polymorphism	-
O60393	NOBOX_HUMAN	360	R	Q	Polymorphism	-
O60393	NOBOX_HUMAN	111	G	R	Unclassified	Premature ovarian failure 5 (POF5) [MIM:611548]
O60393	NOBOX_HUMAN	117	R	W	Unclassified	Premature ovarian failure 5 (POF5) [MIM:611548]
O60393	NOBOX_HUMAN	44	R	L	Polymorphism	-
O60393	NOBOX_HUMAN	152	G	R	Unclassified	Premature ovarian failure 5 (POF5) [MIM:611548]
O60393	NOBOX_HUMAN	619	P	L	Polymorphism	-
O60403	O10H2_HUMAN	40	L	Q	Polymorphism	-
O60403	O10H2_HUMAN	171	S	F	Polymorphism	-
O60403	O10H2_HUMAN	131	R	H	Unclassified	-
O60404	O10H3_HUMAN	293	S	N	Polymorphism	-
O60404	O10H3_HUMAN	54	R	H	Polymorphism	-
O60404	O10H3_HUMAN	14	L	I	Polymorphism	-
O60404	O10H3_HUMAN	224	V	M	Polymorphism	-
O60404	O10H3_HUMAN	7	R	S	Polymorphism	-
O60412	OR7C2_HUMAN	118	T	M	Polymorphism	-
O60412	OR7C2_HUMAN	122	R	H	Polymorphism	-
O60423	AT8B3_HUMAN	45	G	R	Polymorphism	-
O60423	AT8B3_HUMAN	618	V	I	Polymorphism	-
O60427	FADS1_HUMAN	272	P	S	Polymorphism	-
O60431	OR1I1_HUMAN	252	Y	S	Polymorphism	-
O60431	OR1I1_HUMAN	282	I	F	Polymorphism	-
O60431	OR1I1_HUMAN	211	F	L	Polymorphism	-
O60431	OR1I1_HUMAN	163	M	L	Polymorphism	-
O60431	OR1I1_HUMAN	139	P	R	Polymorphism	-
O60431	OR1I1_HUMAN	50	I	F	Polymorphism	-
O60431	OR1I1_HUMAN	292	I	T	Polymorphism	-
O60437	PEPL_HUMAN	1007	A	V	Polymorphism	-
O60437	PEPL_HUMAN	891	E	Q	Polymorphism	-
O60437	PEPL_HUMAN	1199	E	Q	Polymorphism	-
O60437	PEPL_HUMAN	819	R	S	Polymorphism	-
O60437	PEPL_HUMAN	520	R	Q	Polymorphism	-
O60437	PEPL_HUMAN	589	R	Q	Polymorphism	-
O60437	PEPL_HUMAN	572	A	S	Polymorphism	-
O60437	PEPL_HUMAN	631	H	Y	Polymorphism	-
O60437	PEPL_HUMAN	1573	Q	E	Polymorphism	-
O60437	PEPL_HUMAN	1754	G	R	Polymorphism	-
O60443	GSDME_HUMAN	142	P	T	Polymorphism	-
O60443	GSDME_HUMAN	207	V	M	Polymorphism	-
O60443	GSDME_HUMAN	174	M	T	Polymorphism	-
O60447	EVI5_HUMAN	612	Q	H	Polymorphism	-
O60447	EVI5_HUMAN	336	I	V	Polymorphism	-
O60447	EVI5_HUMAN	82	D	V	Polymorphism	-
O60449	LY75_HUMAN	1391	Y	H	Polymorphism	-
O60449	LY75_HUMAN	692	D	N	Polymorphism	-
O60449	LY75_HUMAN	884	D	A	Polymorphism	-
O60449	LY75_HUMAN	1202	T	S	Polymorphism	-
O60449	LY75_HUMAN	807	D	E	Polymorphism	-
O60449	LY75_HUMAN	1321	K	N	Polymorphism	-
O60449	LY75_HUMAN	1347	K	R	Polymorphism	-
O60449	LY75_HUMAN	268	E	D	Polymorphism	-
O60449	LY75_HUMAN	20	W	R	Polymorphism	-
O60449	LY75_HUMAN	486	K	M	Polymorphism	-
O60449	LY75_HUMAN	666	V	A	Polymorphism	-
O60449	LY75_HUMAN	1393	T	I	Polymorphism	-
O60462	NRP2_HUMAN	602	E	K	Polymorphism	-
O60462	NRP2_HUMAN	123	K	R	Polymorphism	-
O60462	NRP2_HUMAN	428	R	W	Polymorphism	-
O60462	NRP2_HUMAN	334	R	C	Polymorphism	-
O60469	DSCAM_HUMAN	232	D	E	Polymorphism	-
O60477	BRNP1_HUMAN	437	A	T	Polymorphism	-
O60477	BRNP1_HUMAN	358	R	H	Polymorphism	-
O60477	BRNP1_HUMAN	712	P	T	Unclassified	A colorectal cancer sample
O60477	BRNP1_HUMAN	347	S	R	Polymorphism	-
O60481	ZIC3_HUMAN	405	K	E	Disease	Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
O60481	ZIC3_HUMAN	217	P	A	Disease	Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955]
O60481	ZIC3_HUMAN	286	H	R	Disease	Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
O60481	ZIC3_HUMAN	323	T	M	Disease	Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
O60481	ZIC3_HUMAN	217	P	A	Disease	Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
O60481	ZIC3_HUMAN	447	A	G	Disease	Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955]
O60481	ZIC3_HUMAN	255	W	G	Disease	Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
O60481	ZIC3_HUMAN	318	H	N	Disease	VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:314390]
O60481	ZIC3_HUMAN	17	G	C	Unclassified	-
O60481	ZIC3_HUMAN	253	C	S	Disease	Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]
O60481	ZIC3_HUMAN	109	S	C	Disease	Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955]
O60486	PLXC1_HUMAN	1499	E	K	Polymorphism	-
O60487	MPZL2_HUMAN	90	R	W	Unclassified	-
O60488	ACSL4_HUMAN	570	R	S	Disease	Mental retardation, X-linked 63 (MRX63) [MIM:300387]
O60488	ACSL4_HUMAN	133	R	C	Unclassified	A colorectal cancer sample
O60494	CUBN_HUMAN	1769	V	I	Polymorphism	-
O60494	CUBN_HUMAN	2914	A	V	Unclassified	A breast cancer sample
O60494	CUBN_HUMAN	2984	I	V	Polymorphism	-
O60494	CUBN_HUMAN	2879	L	I	Polymorphism	-
O60494	CUBN_HUMAN	1775	R	W	Polymorphism	-
O60494	CUBN_HUMAN	2252	A	V	Unclassified	A colorectal cancer sample
O60494	CUBN_HUMAN	786	H	Q	Unclassified	A breast cancer sample
O60494	CUBN_HUMAN	1559	P	S	Polymorphism	-
O60494	CUBN_HUMAN	2153	L	F	Polymorphism	-
O60494	CUBN_HUMAN	2575	P	R	Polymorphism	-
O60494	CUBN_HUMAN	124	F	I	Polymorphism	-
O60494	CUBN_HUMAN	2717	S	W	Polymorphism	-
O60494	CUBN_HUMAN	730	H	Y	Polymorphism	-
O60494	CUBN_HUMAN	3552	N	K	Polymorphism	-
O60494	CUBN_HUMAN	1545	N	Y	Polymorphism	-
O60494	CUBN_HUMAN	389	P	T	Polymorphism	-
O60494	CUBN_HUMAN	2162	C	Y	Polymorphism	-
O60494	CUBN_HUMAN	3189	I	V	Unclassified	A breast cancer sample
O60494	CUBN_HUMAN	2263	F	C	Polymorphism	-
O60494	CUBN_HUMAN	1032	Y	H	Polymorphism	-
O60494	CUBN_HUMAN	3422	T	I	Polymorphism	-
O60494	CUBN_HUMAN	2968	E	Q	Polymorphism	-
O60494	CUBN_HUMAN	1935	S	G	Polymorphism	-
O60494	CUBN_HUMAN	1297	P	L	Disease	Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]
O60494	CUBN_HUMAN	2691	G	R	Polymorphism	-
O60494	CUBN_HUMAN	3002	E	G	Polymorphism	-
O60494	CUBN_HUMAN	1840	G	S	Polymorphism	-
O60494	CUBN_HUMAN	66	G	R	Polymorphism	-
O60494	CUBN_HUMAN	253	F	S	Polymorphism	-
O60494	CUBN_HUMAN	504	I	M	Polymorphism	-
O60494	CUBN_HUMAN	969	L	V	Polymorphism	-
O60494	CUBN_HUMAN	3258	S	G	Unclassified	-
O60494	CUBN_HUMAN	1971	P	T	Polymorphism	-
O60494	CUBN_HUMAN	3432	T	S	Polymorphism	-
O60494	CUBN_HUMAN	2444	R	Q	Polymorphism	-
O60494	CUBN_HUMAN	335	A	T	Polymorphism	-
O60496	DOK2_HUMAN	274	P	L	Polymorphism	-
O60496	DOK2_HUMAN	394	S	A	Polymorphism	-
O60496	DOK2_HUMAN	152	A	P	Polymorphism	-
O60500	NPHN_HUMAN	294	T	I	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	910	S	P	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	237	L	P	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	188	N	I	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	107	A	E	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	802	R	P	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	412	G	C	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	851	A	V	Unclassified	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	976	R	S	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	725	E	D	Unclassified	-
O60500	NPHN_HUMAN	742	I	T	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	610	L	Q	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	709	V	G	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	299	R	C	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	528	C	F	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	912	A	T	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	350	S	P	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	802	R	W	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	819	D	V	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	1140	R	C	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	623	C	F	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	407	R	W	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	107	A	V	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	832	L	P	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	465	C	Y	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	724	S	C	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	340	P	H	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	167	P	L	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	569	S	R	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	1016	S	N	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	265	C	R	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	681	W	C	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	117	E	K	Polymorphism	-
O60500	NPHN_HUMAN	256	R	W	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	586	R	G	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	1096	G	C	Unclassified	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	366	S	R	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	739	A	V	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	711	R	H	Unclassified	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	743	R	C	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	519	P	S	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	347	G	E	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	446	I	N	Unclassified	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	189	E	K	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	736	V	M	Unclassified	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	1020	G	V	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	831	R	C	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	806	A	D	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	460	R	Q	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	173	I	N	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	572	S	N	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	368	P	L	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	834	V	F	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	608	V	I	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	264	P	R	Unclassified	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	567	C	S	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	64	W	S	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	367	R	C	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	1077	N	S	Polymorphism	-
O60500	NPHN_HUMAN	270	G	C	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	673	N	K	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	392	L	P	Polymorphism	-
O60500	NPHN_HUMAN	587	L	R	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	408	R	Q	Polymorphism	-
O60500	NPHN_HUMAN	233	T	A	Polymorphism	-
O60500	NPHN_HUMAN	96	L	V	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	447	E	K	Polymorphism	-
O60500	NPHN_HUMAN	171	I	N	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	991	V	L	Polymorphism	-
O60500	NPHN_HUMAN	575	P	Q	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	417	C	F	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	379	R	W	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	376	L	V	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	368	P	S	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	822	V	M	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	558	R	C	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60500	NPHN_HUMAN	617	H	R	Unclassified	-
O60500	NPHN_HUMAN	107	A	T	Disease	Nephrotic syndrome 1 (NPHS1) [MIM:256300]
O60502	OGA_HUMAN	46	G	E	Polymorphism	-
O60502	OGA_HUMAN	602	E	K	Polymorphism	-
O60503	ADCY9_HUMAN	772	I	M	Polymorphism	-
O60503	ADCY9_HUMAN	1154	N	S	Polymorphism	-
O60504	VINEX_HUMAN	573	T	A	Polymorphism	-
O60504	VINEX_HUMAN	556	I	T	Polymorphism	-
O60504	VINEX_HUMAN	255	P	L	Polymorphism	-
O60513	B4GT4_HUMAN	116	Q	E	Polymorphism	-
O60522	TDRD6_HUMAN	795	I	M	Polymorphism	-
O60522	TDRD6_HUMAN	1014	Q	E	Polymorphism	-
O60522	TDRD6_HUMAN	192	R	Q	Polymorphism	-
O60522	TDRD6_HUMAN	398	T	A	Polymorphism	-
O60524	NEMF_HUMAN	257	S	C	Polymorphism	-
O60543	CIDEA_HUMAN	115	V	F	Polymorphism	-
O60548	FOXD2_HUMAN	368	A	P	Polymorphism	-
O60563	CCNT1_HUMAN	541	R	C	Polymorphism	-
O60563	CCNT1_HUMAN	362	H	R	Polymorphism	-
O60566	BUB1B_HUMAN	15	M	T	Unclassified	A colorectal cancer cell line
O60566	BUB1B_HUMAN	844	L	F	Disease	Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
O60566	BUB1B_HUMAN	814	R	H	Disease	Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
O60566	BUB1B_HUMAN	550	R	Q	Disease	Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
O60566	BUB1B_HUMAN	618	V	A	Unclassified	Colorectal cancer
O60566	BUB1B_HUMAN	36	R	Q	Disease	Premature chromatid separation trait (PCS) [MIM:176430]
O60566	BUB1B_HUMAN	378	P	S	Polymorphism	-
O60566	BUB1B_HUMAN	390	E	D	Polymorphism	-
O60566	BUB1B_HUMAN	1012	L	P	Disease	Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
O60566	BUB1B_HUMAN	349	R	Q	Polymorphism	-
O60566	BUB1B_HUMAN	921	Q	H	Disease	Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
O60566	BUB1B_HUMAN	40	T	M	Polymorphism	-
O60566	BUB1B_HUMAN	909	I	T	Disease	Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]
O60568	PLOD3_HUMAN	286	R	W	Polymorphism	-
O60568	PLOD3_HUMAN	223	N	S	Disease	Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]
O60568	PLOD3_HUMAN	151	A	V	Polymorphism	-
O60575	ISK4_HUMAN	7	V	I	Polymorphism	-
O60602	TLR5_HUMAN	592	N	S	Polymorphism	-
O60602	TLR5_HUMAN	112	P	A	Polymorphism	-
O60602	TLR5_HUMAN	82	T	I	Polymorphism	-
O60602	TLR5_HUMAN	181	Q	K	Polymorphism	-
O60602	TLR5_HUMAN	822	F	L	Polymorphism	-
O60602	TLR5_HUMAN	769	L	F	Polymorphism	-
O60602	TLR5_HUMAN	143	N	T	Polymorphism	-
O60602	TLR5_HUMAN	616	F	L	Polymorphism	-
O60602	TLR5_HUMAN	644	I	F	Polymorphism	-
O60603	TLR2_HUMAN	715	Y	N	Polymorphism	-
O60603	TLR2_HUMAN	636	S	R	Polymorphism	-
O60603	TLR2_HUMAN	579	R	H	Polymorphism	-
O60603	TLR2_HUMAN	753	R	Q	Polymorphism	-
O60603	TLR2_HUMAN	89	N	D	Polymorphism	-
O60603	TLR2_HUMAN	631	P	H	Polymorphism	-
O60603	TLR2_HUMAN	411	T	I	Polymorphism	-
O60603	TLR2_HUMAN	677	R	W	Polymorphism	-
O60603	TLR2_HUMAN	571	R	H	Polymorphism	-
O60610	DIAP1_HUMAN	678	P	S	Disease	Deafness, autosomal dominant, 1 (DFNA1) [MIM:124900]
O60635	TSN1_HUMAN	87	V	M	Polymorphism	-
O60635	TSN1_HUMAN	38	S	F	Polymorphism	-
O60636	TSN2_HUMAN	118	R	L	Polymorphism	-
O60656	UD19_HUMAN	33	M	T	Polymorphism	-
O60656	UD19_HUMAN	442	S	I	Unclassified	A breast cancer sample
O60658	PDE8A_HUMAN	112	E	G	Polymorphism	-
O60662	KLH41_HUMAN	413	S	L	Disease	Nemaline myopathy 9 (NEM9) [MIM:615731]
O60662	KLH41_HUMAN	481	M	V	Polymorphism	-
O60662	KLH41_HUMAN	271	A	T	Polymorphism	-
O60663	LMX1B_HUMAN	83	C	Y	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	77	H	N	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	252	L	P	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	146	C	F	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	143	C	S	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	86	C	R	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	118	C	F	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	223	R	Q	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	118	C	Y	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	146	C	Y	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	75	S	F	Polymorphism	-
O60663	LMX1B_HUMAN	249	R	P	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	266	W	C	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	106	D	G	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	165	C	W	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	140	C	Y	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	59	C	S	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	241	S	P	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	253	A	V	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	103	C	W	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	83	C	W	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	77	H	Y	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	59	C	R	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	83	C	F	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	77	H	Q	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	269	N	K	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	83	C	G	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	81	L	W	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	236	A	P	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	137	H	Y	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60663	LMX1B_HUMAN	80	C	R	Disease	Nail-patella syndrome (NPS) [MIM:161200]
O60664	PLIN3_HUMAN	56	I	V	Polymorphism	-
O60664	PLIN3_HUMAN	275	V	A	Polymorphism	-
O60669	MOT2_HUMAN	445	T	S	Polymorphism	-
O60671	RAD1_HUMAN	33	A	G	Polymorphism	-
O60671	RAD1_HUMAN	39	H	Q	Polymorphism	-
O60671	RAD1_HUMAN	104	T	S	Polymorphism	-
O60671	RAD1_HUMAN	114	G	D	Polymorphism	-
O60671	RAD1_HUMAN	281	E	G	Polymorphism	-
O60673	REV3L_HUMAN	1713	D	N	Polymorphism	-
O60673	REV3L_HUMAN	397	Q	P	Polymorphism	-
O60673	REV3L_HUMAN	962	R	Q	Polymorphism	-
O60673	REV3L_HUMAN	693	M	T	Polymorphism	-
O60673	REV3L_HUMAN	2075	I	M	Polymorphism	-
O60673	REV3L_HUMAN	3064	V	I	Polymorphism	-
O60673	REV3L_HUMAN	1224	T	I	Polymorphism	-
O60673	REV3L_HUMAN	1724	S	T	Polymorphism	-
O60673	REV3L_HUMAN	389	S	T	Polymorphism	-
O60673	REV3L_HUMAN	1540	K	E	Polymorphism	-
O60673	REV3L_HUMAN	1302	S	T	Polymorphism	-
O60673	REV3L_HUMAN	1220	S	L	Polymorphism	-
O60673	REV3L_HUMAN	1156	Y	C	Polymorphism	-
O60673	REV3L_HUMAN	1923	G	R	Polymorphism	-
O60673	REV3L_HUMAN	2607	S	T	Polymorphism	-
O60673	REV3L_HUMAN	1469	Q	P	Polymorphism	-
O60673	REV3L_HUMAN	2762	R	Q	Polymorphism	-
O60673	REV3L_HUMAN	231	Q	H	Polymorphism	-
O60673	REV3L_HUMAN	1309	Q	H	Polymorphism	-
O60673	REV3L_HUMAN	1576	S	L	Polymorphism	-
O60673	REV3L_HUMAN	1339	P	T	Polymorphism	-
O60673	REV3L_HUMAN	633	S	G	Polymorphism	-
O60673	REV3L_HUMAN	1970	R	H	Polymorphism	-
O60673	REV3L_HUMAN	1284	T	P	Polymorphism	-
O60673	REV3L_HUMAN	1791	P	S	Polymorphism	-
O60673	REV3L_HUMAN	2015	E	V	Polymorphism	-
O60673	REV3L_HUMAN	1812	D	H	Polymorphism	-
O60674	JAK2_HUMAN	127	G	D	Polymorphism	-
O60674	JAK2_HUMAN	617	V	I	Disease	Thrombocythemia 3 (THCYT3) [MIM:614521]
O60674	JAK2_HUMAN	346	K	R	Polymorphism	-
O60674	JAK2_HUMAN	617	V	F	Disease	Leukemia, acute myelogenous (AML) [MIM:601626]
O60674	JAK2_HUMAN	617	V	F	Disease	Thrombocythemia 3 (THCYT3) [MIM:614521]
O60674	JAK2_HUMAN	191	K	Q	Unclassified	An ovarian serous carcinoma sample
O60674	JAK2_HUMAN	539	K	L	Polymorphism	-
O60674	JAK2_HUMAN	393	L	V	Polymorphism	-
O60674	JAK2_HUMAN	1063	R	H	Polymorphism	-
O60674	JAK2_HUMAN	377	A	E	Polymorphism	-
O60674	JAK2_HUMAN	607	K	N	Disease	Leukemia, acute myelogenous (AML) [MIM:601626]
O60674	JAK2_HUMAN	584	D	E	Polymorphism	-
O60674	JAK2_HUMAN	617	V	F	Disease	Polycythemia vera (PV) [MIM:263300]
O60676	CST8_HUMAN	142	A	P	Polymorphism	-
O60676	CST8_HUMAN	52	A	V	Polymorphism	-
O60678	ANM3_HUMAN	470	S	C	Polymorphism	-
O60678	ANM3_HUMAN	440	L	V	Polymorphism	-
O60678	ANM3_HUMAN	508	N	S	Polymorphism	-
O60683	PEX10_HUMAN	290	H	Q	Disease	Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871]
O60683	PEX10_HUMAN	274	T	A	Polymorphism	-
O60687	SRPX2_HUMAN	327	N	S	Unclassified	Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) [MIM:300643]
O60687	SRPX2_HUMAN	287	T	S	Polymorphism	-
O60687	SRPX2_HUMAN	72	Y	S	Disease	Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) [MIM:300643]
O60706	ABCC9_HUMAN	1043	C	Y	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	1108	P	S	Polymorphism	-
O60706	ABCC9_HUMAN	1020	S	P	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	1039	F	S	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	207	D	E	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	1547	T	I	Disease	Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]
O60706	ABCC9_HUMAN	1513	A	T	Disease	Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]
O60706	ABCC9_HUMAN	432	P	L	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	1154	R	Q	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	478	A	V	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	1116	R	C	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	1154	R	W	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	1116	R	H	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	380	G	C	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	60	H	Y	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706	ABCC9_HUMAN	1054	S	Y	Disease	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60711	LPXN_HUMAN	148	P	T	Polymorphism	-
O60716	CTND1_HUMAN	915	R	K	Polymorphism	-
O60716	CTND1_HUMAN	217	Y	C	Polymorphism	-
O60716	CTND1_HUMAN	171	S	F	Polymorphism	-
O60716	CTND1_HUMAN	464	R	C	Polymorphism	-
O60721	NCKX1_HUMAN	37	T	S	Polymorphism	-
O60721	NCKX1_HUMAN	313	L	V	Polymorphism	-
O60721	NCKX1_HUMAN	311	V	L	Polymorphism	-
O60729	CC14B_HUMAN	341	I	T	Polymorphism	-
O60729	CC14B_HUMAN	302	I	T	Polymorphism	-
O60732	MAGC1_HUMAN	257	Q	H	Polymorphism	-
O60732	MAGC1_HUMAN	327	H	Q	Polymorphism	-
O60732	MAGC1_HUMAN	709	H	Y	Polymorphism	-
O60732	MAGC1_HUMAN	276	F	S	Polymorphism	-
O60732	MAGC1_HUMAN	25	C	Y	Polymorphism	-
O60732	MAGC1_HUMAN	151	T	I	Polymorphism	-
O60733	PLPL9_HUMAN	343	A	T	Polymorphism	-
O60733	PLPL9_HUMAN	661	T	M	Disease	Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600]
O60733	PLPL9_HUMAN	550	R	W	Polymorphism	-
O60733	PLPL9_HUMAN	58	V	I	Polymorphism	-
O60733	PLPL9_HUMAN	70	R	Q	Polymorphism	-
O60733	PLPL9_HUMAN	741	R	Q	Disease	Parkinson disease 14 (PARK14) [MIM:612953]
O60733	PLPL9_HUMAN	484	D	G	Disease	Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600]
O60733	PLPL9_HUMAN	183	D	N	Polymorphism	-
O60733	PLPL9_HUMAN	774	S	T	Polymorphism	-
O60733	PLPL9_HUMAN	63	R	G	Polymorphism	-
O60733	PLPL9_HUMAN	545	K	T	Disease	Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217]
O60733	PLPL9_HUMAN	747	R	W	Disease	Parkinson disease 14 (PARK14) [MIM:612953]
O60733	PLPL9_HUMAN	632	R	W	Disease	Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217]
O60733	PLPL9_HUMAN	310	V	E	Disease	Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600]
O60741	HCN1_HUMAN	297	R	T	Disease	Epileptic encephalopathy, early infantile, 24 (EIEE24) [MIM:615871]
O60741	HCN1_HUMAN	391	G	D	Disease	Epileptic encephalopathy, early infantile, 24 (EIEE24) [MIM:615871]
O60741	HCN1_HUMAN	100	S	F	Disease	Epileptic encephalopathy, early infantile, 24 (EIEE24) [MIM:615871]
O60741	HCN1_HUMAN	272	S	P	Disease	Epileptic encephalopathy, early infantile, 24 (EIEE24) [MIM:615871]
O60741	HCN1_HUMAN	279	H	Y	Disease	Epileptic encephalopathy, early infantile, 24 (EIEE24) [MIM:615871]
O60741	HCN1_HUMAN	401	D	H	Disease	Epileptic encephalopathy, early infantile, 24 (EIEE24) [MIM:615871]
O60741	HCN1_HUMAN	153	M	I	Disease	Epileptic encephalopathy, early infantile, 24 (EIEE24) [MIM:615871]
O60741	HCN1_HUMAN	47	G	V	Unclassified	Epileptic encephalopathy, early infantile, 24 (EIEE24) [MIM:615871]
O60741	HCN1_HUMAN	42	P	S	Polymorphism	-
O60755	GALR3_HUMAN	349	Q	R	Polymorphism	-
O60755	GALR3_HUMAN	342	R	G	Polymorphism	-
O60759	CYTIP_HUMAN	83	Q	E	Polymorphism	-
O60759	CYTIP_HUMAN	37	D	N	Polymorphism	-
O60759	CYTIP_HUMAN	329	P	S	Unclassified	-
O60762	DPM1_HUMAN	92	R	G	Disease	Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799]
O60762	DPM1_HUMAN	248	S	P	Disease	Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799]
O60762	DPM1_HUMAN	152	G	V	Disease	Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799]
O60774	FMO6_HUMAN	257	V	I	Polymorphism	-
O60774	FMO6_HUMAN	127	V	I	Polymorphism	-
O60779	S19A2_HUMAN	143	S	F	Disease	Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]
O60779	S19A2_HUMAN	93	D	H	Disease	Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]
O60779	S19A2_HUMAN	172	G	D	Disease	Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]
O60784	TOM1_HUMAN	84	R	H	Polymorphism	-
O60784	TOM1_HUMAN	264	M	V	Polymorphism	-
O60806	TBX19_HUMAN	128	S	F	Disease	ACTH deficiency, isolated (IAD) [MIM:201400]
O60809	PRA10_HUMAN	99	K	I	Polymorphism	-
O60809	PRA10_HUMAN	402	R	G	Polymorphism	-
O60809	PRA10_HUMAN	144	R	H	Polymorphism	-
O60809	PRA10_HUMAN	306	T	A	Polymorphism	-
O60810	PRAM4_HUMAN	85	D	E	Polymorphism	-
O60811	PRAM2_HUMAN	310	L	M	Polymorphism	-
O60811	PRAM2_HUMAN	128	A	T	Polymorphism	-
O60811	PRAM2_HUMAN	68	S	W	Polymorphism	-
O60811	PRAM2_HUMAN	301	T	A	Polymorphism	-
O60811	PRAM2_HUMAN	316	F	Y	Polymorphism	-
O60811	PRAM2_HUMAN	141	T	M	Polymorphism	-
O60811	PRAM2_HUMAN	233	T	N	Polymorphism	-
O60811	PRAM2_HUMAN	308	E	G	Polymorphism	-
O60811	PRAM2_HUMAN	33	R	S	Polymorphism	-
O60811	PRAM2_HUMAN	302	C	Y	Polymorphism	-
O60811	PRAM2_HUMAN	83	E	K	Polymorphism	-
O60811	PRAM2_HUMAN	225	Y	C	Polymorphism	-
O60811	PRAM2_HUMAN	67	V	G	Polymorphism	-
O60811	PRAM2_HUMAN	72	T	R	Polymorphism	-
O60811	PRAM2_HUMAN	375	C	R	Polymorphism	-
O60811	PRAM2_HUMAN	304	N	Y	Polymorphism	-
O60812	HNRC1_HUMAN	81	D	V	Polymorphism	-
O60812	HNRC1_HUMAN	258	V	D	Polymorphism	-
O60812	HNRC1_HUMAN	208	Q	H	Polymorphism	-
O60826	CCD22_HUMAN	546	D	N	Polymorphism	-
O60826	CCD22_HUMAN	17	T	A	Disease	Ritscher-Schinzel syndrome 2 (RTSC2) [MIM:300963]
O60826	CCD22_HUMAN	557	Y	C	Disease	Ritscher-Schinzel syndrome 2 (RTSC2) [MIM:300963]
O60828	PQBP1_HUMAN	224	R	W	Unclassified	A colorectal cancer sample
O60828	PQBP1_HUMAN	244	P	L	Disease	-
O60828	PQBP1_HUMAN	65	Y	C	Disease	Renpenning syndrome 1 (RENS1) [MIM:309500]
O60831	PRAF2_HUMAN	56	L	F	Polymorphism	-
O60832	DKC1_HUMAN	41	E	K	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	72	L	Y	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	65	R	T	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	350	M	I	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	72	L	F	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	66	T	A	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	39	K	E	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	2	A	V	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	56	L	S	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	40	P	R	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	36	F	V	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	317	L	F	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	49	T	M	Disease	Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000]
O60832	DKC1_HUMAN	402	G	E	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	353	A	V	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	353	A	V	Disease	Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000]
O60832	DKC1_HUMAN	54	L	V	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	402	G	R	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	121	S	G	Disease	Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000]
O60832	DKC1_HUMAN	223	G	D	Polymorphism	-
O60832	DKC1_HUMAN	409	P	L	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	322	R	Q	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	350	M	T	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	321	L	V	Disease	Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]
O60832	DKC1_HUMAN	38	I	T	Disease	Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000]
O60840	CAC1F_HUMAN	519	R	Q	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	261	G	R	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	746	N	T	Polymorphism	-
O60840	CAC1F_HUMAN	635	V	I	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	150	G	R	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	928	A	D	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	753	F	C	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	1508	L	P	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	369	G	D	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	229	S	P	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	1499	C	R	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	860	L	P	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	1018	G	R	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	1270	A	T	Polymorphism	-
O60840	CAC1F_HUMAN	674	G	D	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	756	I	T	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	1079	L	P	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	1930	R	H	Polymorphism	-
O60840	CAC1F_HUMAN	1060	R	W	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	1375	L	H	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	1500	P	R	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	1259	A	T	Polymorphism	-
O60840	CAC1F_HUMAN	603	G	R	Disease	Aaland island eye disease (AIED) [MIM:300600]
O60840	CAC1F_HUMAN	603	G	R	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	74	C	R	Disease	Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]
O60840	CAC1F_HUMAN	14	P	L	Polymorphism	-
O60841	IF2P_HUMAN	337	S	G	Polymorphism	-
O60841	IF2P_HUMAN	360	R	G	Polymorphism	-
O60841	IF2P_HUMAN	522	K	T	Polymorphism	-
O60844	ZG16_HUMAN	32	G	S	Polymorphism	-
O60844	ZG16_HUMAN	109	L	V	Polymorphism	-
O60844	ZG16_HUMAN	162	S	T	Polymorphism	-
O60858	TRI13_HUMAN	355	S	T	Polymorphism	-
O60879	DIAP2_HUMAN	426	L	V	Polymorphism	-
O60879	DIAP2_HUMAN	425	F	L	Polymorphism	-
O60880	SH21A_HUMAN	53	T	I	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	49	G	V	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	68	T	I	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	101	P	L	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	16	G	D	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	57	S	P	Unclassified	-
O60880	SH21A_HUMAN	42	C	W	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	55	R	L	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	99	Q	P	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	102	V	G	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	33	D	Y	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	27	G	S	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	54	Y	C	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	84	I	T	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	28	S	R	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	7	Y	C	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	31	L	P	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	8	H	D	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	32	R	T	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60880	SH21A_HUMAN	87	F	S	Disease	Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
O60882	MMP20_HUMAN	275	V	A	Polymorphism	-
O60882	MMP20_HUMAN	281	T	N	Polymorphism	-
O60882	MMP20_HUMAN	18	K	T	Polymorphism	-
O60882	MMP20_HUMAN	139	D	N	Polymorphism	-
O60882	MMP20_HUMAN	169	I	L	Polymorphism	-
O60883	G37L1_HUMAN	81	P	A	Polymorphism	-
O60883	G37L1_HUMAN	91	K	R	Polymorphism	-
O60883	G37L1_HUMAN	90	G	D	Polymorphism	-
O60883	G37L1_HUMAN	349	K	N	Unclassified	-
O60885	BRD4_HUMAN	598	T	S	Polymorphism	-
O60885	BRD4_HUMAN	37	P	S	Polymorphism	-
O60885	BRD4_HUMAN	371	A	G	Polymorphism	-
O60885	BRD4_HUMAN	669	R	H	Polymorphism	-
O60885	BRD4_HUMAN	1097	R	H	Polymorphism	-
O60885	BRD4_HUMAN	563	S	N	Polymorphism	-
O60890	OPHN1_HUMAN	39	V	I	Polymorphism	-
O60890	OPHN1_HUMAN	693	M	I	Polymorphism	-
O60890	OPHN1_HUMAN	45	A	T	Polymorphism	-
O60890	OPHN1_HUMAN	301	T	M	Polymorphism	-
O60896	RAMP3_HUMAN	26	G	D	Polymorphism	-
O60896	RAMP3_HUMAN	33	M	L	Polymorphism	-
O60896	RAMP3_HUMAN	56	W	R	Polymorphism	-
O60906	NSMA_HUMAN	3	P	L	Polymorphism	-
O60906	NSMA_HUMAN	223	V	I	Polymorphism	-
O60906	NSMA_HUMAN	265	R	S	Polymorphism	-
O60909	B4GT2_HUMAN	338	G	R	Polymorphism	-
O60909	B4GT2_HUMAN	122	Q	H	Polymorphism	-
O60921	HUS1_HUMAN	221	D	E	Polymorphism	-
O60921	HUS1_HUMAN	147	Q	K	Polymorphism	-
O60921	HUS1_HUMAN	126	S	G	Polymorphism	-
O60928	KCJ13_HUMAN	241	L	P	Disease	Leber congenital amaurosis 16 (LCA16) [MIM:614186]
O60928	KCJ13_HUMAN	117	Q	R	Disease	Leber congenital amaurosis 16 (LCA16) [MIM:614186]
O60928	KCJ13_HUMAN	175	T	I	Polymorphism	-
O60928	KCJ13_HUMAN	162	R	Q	Polymorphism	-
O60928	KCJ13_HUMAN	309	G	C	Polymorphism	-
O60928	KCJ13_HUMAN	290	P	Q	Polymorphism	-
O60928	KCJ13_HUMAN	276	E	A	Polymorphism	-
O60928	KCJ13_HUMAN	162	R	W	Disease	Snowflake vitreoretinal degeneration (SVD) [MIM:193230]
O60930	RNH1_HUMAN	4	L	F	Polymorphism	-
O60930	RNH1_HUMAN	142	V	I	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 (PEOB2) [MIM:616479]
O60930	RNH1_HUMAN	185	A	V	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 (PEOB2) [MIM:616479]
O60931	CTNS_HUMAN	323	N	K	Disease	Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
O60931	CTNS_HUMAN	298	S	N	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	305	D	G	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	308	G	V	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	292	K	R	Unclassified	-
O60931	CTNS_HUMAN	177	N	T	Disease	Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
O60931	CTNS_HUMAN	305	D	Y	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	197	G	R	Disease	Cystinosis, adult, non-nephropathic type (CTNSANN) [MIM:219750]
O60931	CTNS_HUMAN	169	G	D	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	346	D	N	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	158	L	P	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	157	G	D	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	309	G	D	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	139	S	F	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	337	G	R	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	177	N	S	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	151	R	G	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	339	G	R	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	173	Y	C	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	280	K	R	Disease	Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
O60931	CTNS_HUMAN	205	D	N	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	133	I	F	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	182	W	R	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	308	G	R	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	260	T	I	Polymorphism	-
O60931	CTNS_HUMAN	222	Q	R	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	338	L	P	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	42	V	I	Polymorphism	-
O60931	CTNS_HUMAN	287	M	I	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	200	P	L	Disease	Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
O60931	CTNS_HUMAN	338	L	R	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	110	G	V	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60931	CTNS_HUMAN	288	N	K	Disease	Cystinosis, nephropathic type (CTNS) [MIM:219800]
O60934	NBN_HUMAN	574	L	I	Polymorphism	-
O60934	NBN_HUMAN	93	S	L	Unclassified	Some childhood acute lymphoblastic leukemia patients
O60934	NBN_HUMAN	216	Q	K	Polymorphism	-
O60934	NBN_HUMAN	95	D	N	Unclassified	Some childhood acute lymphoblastic leukemia patients
O60934	NBN_HUMAN	185	E	Q	Polymorphism	-
O60934	NBN_HUMAN	171	I	V	Unclassified	Some childhood acute lymphoblastic leukemia patients
O60934	NBN_HUMAN	150	L	F	Disease	Breast cancer (BC) [MIM:114480]
O60934	NBN_HUMAN	105	K	N	Polymorphism	-
O60934	NBN_HUMAN	215	R	W	Polymorphism	-
O60934	NBN_HUMAN	210	V	F	Polymorphism	-
O60934	NBN_HUMAN	266	P	L	Polymorphism	-
O60934	NBN_HUMAN	408	K	E	Polymorphism	-
O60934	NBN_HUMAN	142	N	S	Polymorphism	-
O60934	NBN_HUMAN	679	Y	H	Unclassified	-
O60934	NBN_HUMAN	497	T	A	Polymorphism	-
O60936	NOL3_HUMAN	21	E	Q	Disease	Myoclonus, familial, 1 (MYOCL1) [MIM:614937]
O60936	NOL3_HUMAN	80	A	T	Disease	Myoclonus, familial, 1 (MYOCL1) [MIM:614937]
O60938	KERA_HUMAN	235	V	G	Polymorphism	-
O60938	KERA_HUMAN	247	N	S	Disease	Cornea plana 2, autosomal recessive (CNA2) [MIM:217300]
O60938	KERA_HUMAN	215	T	K	Disease	Cornea plana 2, autosomal recessive (CNA2) [MIM:217300]
O60939	SCN2B_HUMAN	211	D	G	Unclassified	-
O60939	SCN2B_HUMAN	47	R	H	Polymorphism	-
O60939	SCN2B_HUMAN	28	R	W	Disease	Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378]
O60939	SCN2B_HUMAN	28	R	Q	Disease	Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378]
O60941	DTNB_HUMAN	97	P	H	Polymorphism	-
O60941	DTNB_HUMAN	116	I	T	Polymorphism	-
O60942	MCE1_HUMAN	594	R	H	Polymorphism	-
O75015	FCG3B_HUMAN	78	A	D	Polymorphism	-
O75015	FCG3B_HUMAN	106	I	V	Polymorphism	-
O75015	FCG3B_HUMAN	82	N	D	Polymorphism	-
O75015	FCG3B_HUMAN	65	S	N	Polymorphism	-
O75015	FCG3B_HUMAN	36	S	R	Polymorphism	-
O75019	LIRA1_HUMAN	12	R	G	Polymorphism	-
O75019	LIRA1_HUMAN	220	L	P	Polymorphism	-
O75019	LIRA1_HUMAN	153	S	G	Polymorphism	-
O75022	LIRB3_HUMAN	69	L	W	Polymorphism	-
O75022	LIRB3_HUMAN	400	Y	H	Polymorphism	-
O75022	LIRB3_HUMAN	90	E	Q	Polymorphism	-
O75022	LIRB3_HUMAN	122	S	N	Polymorphism	-
O75022	LIRB3_HUMAN	400	Y	R	Unclassified	-
O75022	LIRB3_HUMAN	400	Y	F	Polymorphism	-
O75022	LIRB3_HUMAN	59	R	Q	Polymorphism	-
O75022	LIRB3_HUMAN	205	W	Q	Polymorphism	-
O75022	LIRB3_HUMAN	21	V	M	Polymorphism	-
O75022	LIRB3_HUMAN	405	H	Y	Polymorphism	-
O75022	LIRB3_HUMAN	574	V	A	Polymorphism	-
O75022	LIRB3_HUMAN	171	Q	H	Polymorphism	-
O75022	LIRB3_HUMAN	539	Q	H	Polymorphism	-
O75023	LIRB5_HUMAN	247	D	G	Polymorphism	-
O75027	ABCB7_HUMAN	581	V	A	Polymorphism	-
O75027	ABCB7_HUMAN	400	I	M	Disease	Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
O75027	ABCB7_HUMAN	580	A	V	Polymorphism	-
O75027	ABCB7_HUMAN	346	F	I	Polymorphism	-
O75027	ABCB7_HUMAN	208	E	D	Disease	Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
O75027	ABCB7_HUMAN	433	E	K	Disease	Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
O75027	ABCB7_HUMAN	315	R	G	Polymorphism	-
O75027	ABCB7_HUMAN	411	V	L	Disease	Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
O75030	MITF_HUMAN	317	N	K	Disease	Tietz albinism-deafness syndrome (TADS) [MIM:103500]
O75030	MITF_HUMAN	310	R	K	Unclassified	Waardenburg syndrome 2A (WS2A) [MIM:193510]
O75030	MITF_HUMAN	313	K	N	Disease	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) [MIM:617306]
O75030	MITF_HUMAN	324	R	G	Disease	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) [MIM:617306]
O75030	MITF_HUMAN	357	S	P	Disease	Waardenburg syndrome 2A (WS2A) [MIM:193510]
O75030	MITF_HUMAN	405	S	P	Disease	Waardenburg syndrome 2A (WS2A) [MIM:193510]
O75030	MITF_HUMAN	385	N	D	Disease	Waardenburg syndrome 2A (WS2A) [MIM:193510]
O75030	MITF_HUMAN	294	A	T	Unclassified	Waardenburg syndrome 2A (WS2A) [MIM:193510]
O75030	MITF_HUMAN	425	E	K	Disease	Melanoma, cutaneous malignant 8 (CMM8) [MIM:614456]
O75044	SRGP2_HUMAN	874	R	G	Polymorphism	-
O75051	PLXA2_HUMAN	267	A	T	Polymorphism	-
O75051	PLXA2_HUMAN	369	E	G	Polymorphism	-
O75051	PLXA2_HUMAN	5	R	Q	Polymorphism	-
O75051	PLXA2_HUMAN	1443	A	T	Polymorphism	-
O75051	PLXA2_HUMAN	57	Q	R	Polymorphism	-
O75051	PLXA2_HUMAN	805	A	G	Polymorphism	-
O75054	IGSF3_HUMAN	1020	D	E	Polymorphism	-
O75054	IGSF3_HUMAN	51	S	P	Polymorphism	-
O75054	IGSF3_HUMAN	1073	Q	R	Polymorphism	-
O75056	SDC3_HUMAN	208	V	I	Polymorphism	-
O75056	SDC3_HUMAN	303	D	N	Polymorphism	-
O75056	SDC3_HUMAN	329	T	I	Polymorphism	-
O75061	AUXI_HUMAN	671	S	N	Polymorphism	-
O75061	AUXI_HUMAN	152	L	P	Polymorphism	-
O75061	AUXI_HUMAN	870	R	G	Disease	Parkinson disease 19B, early-onset (PARK19B) [MIM:615528]
O75061	AUXI_HUMAN	441	C	S	Polymorphism	-
O75061	AUXI_HUMAN	264	I	V	Polymorphism	-
O75061	AUXI_HUMAN	76	M	L	Polymorphism	-
O75061	AUXI_HUMAN	562	R	C	Polymorphism	-
O75071	EFC14_HUMAN	337	L	P	Polymorphism	-
O75071	EFC14_HUMAN	239	P	S	Polymorphism	-
O75072	FKTN_HUMAN	446	N	D	Polymorphism	-
O75072	FKTN_HUMAN	358	Q	P	Disease	Cardiomyopathy, dilated 1X (CMD1X) [MIM:611615]
O75072	FKTN_HUMAN	307	R	Q	Disease	Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4) [MIM:613152]
O75072	FKTN_HUMAN	225	D	N	Unclassified	A breast cancer sample
O75072	FKTN_HUMAN	170	A	E	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]
O75072	FKTN_HUMAN	176	F	S	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588]
O75072	FKTN_HUMAN	250	C	G	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]
O75072	FKTN_HUMAN	225	D	E	Unclassified	A breast cancer sample
O75072	FKTN_HUMAN	179	R	T	Disease	Cardiomyopathy, dilated 1X (CMD1X) [MIM:611615]
O75072	FKTN_HUMAN	125	G	S	Polymorphism	-
O75072	FKTN_HUMAN	246	R	G	Disease	Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4) [MIM:613152]
O75072	FKTN_HUMAN	203	R	Q	Polymorphism	-
O75072	FKTN_HUMAN	56	R	C	Polymorphism	-
O75072	FKTN_HUMAN	307	R	Q	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588]
O75072	FKTN_HUMAN	114	A	T	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588]
O75072	FKTN_HUMAN	371	Y	C	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]
O75074	LRP3_HUMAN	213	P	L	Polymorphism	-
O75074	LRP3_HUMAN	708	V	A	Polymorphism	-
O75078	ADA11_HUMAN	693	S	R	Unclassified	A pancreatic ductal adenocarcinoma sample
O75081	MTG16_HUMAN	518	E	K	Unclassified	A colorectal cancer sample
O75081	MTG16_HUMAN	429	E	G	Polymorphism	-
O75081	MTG16_HUMAN	306	R	H	Unclassified	A colorectal cancer sample
O75081	MTG16_HUMAN	534	A	V	Unclassified	A colorectal cancer sample
O75083	WDR1_HUMAN	185	I	V	Polymorphism	-
O75084	FZD7_HUMAN	24	G	S	Polymorphism	-
O75084	FZD7_HUMAN	196	G	E	Polymorphism	-
O75084	FZD7_HUMAN	487	A	V	Polymorphism	-
O75084	FZD7_HUMAN	24	G	D	Polymorphism	-
O75093	SLIT1_HUMAN	824	P	L	Polymorphism	-
O75094	SLIT3_HUMAN	395	R	Q	Polymorphism	-
O75094	SLIT3_HUMAN	371	V	A	Polymorphism	-
O75094	SLIT3_HUMAN	618	G	S	Polymorphism	-
O75094	SLIT3_HUMAN	810	R	Q	Polymorphism	-
O75094	SLIT3_HUMAN	1064	P	A	Polymorphism	-
O75094	SLIT3_HUMAN	994	E	G	Polymorphism	-
O75095	MEGF6_HUMAN	131	S	G	Polymorphism	-
O75095	MEGF6_HUMAN	1137	G	A	Polymorphism	-
O75095	MEGF6_HUMAN	587	P	L	Polymorphism	-
O75095	MEGF6_HUMAN	916	R	L	Polymorphism	-
O75095	MEGF6_HUMAN	115	M	T	Polymorphism	-
O75095	MEGF6_HUMAN	1287	R	H	Polymorphism	-
O75095	MEGF6_HUMAN	688	L	P	Polymorphism	-
O75095	MEGF6_HUMAN	313	A	V	Polymorphism	-
O75095	MEGF6_HUMAN	1536	G	S	Polymorphism	-
O75096	LRP4_HUMAN	473	L	F	Disease	Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096	LRP4_HUMAN	1277	R	H	Disease	Myasthenic syndrome, congenital, 17 (CMS17) [MIM:616304]
O75096	LRP4_HUMAN	314	L	S	Polymorphism	-
O75096	LRP4_HUMAN	160	C	Y	Disease	Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096	LRP4_HUMAN	1238	A	T	Polymorphism	-
O75096	LRP4_HUMAN	1186	W	S	Disease	Sclerosteosis 2 (SOST2) [MIM:614305]
O75096	LRP4_HUMAN	1233	E	K	Disease	Myasthenic syndrome, congenital, 17 (CMS17) [MIM:616304]
O75096	LRP4_HUMAN	449	D	N	Disease	Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096	LRP4_HUMAN	1017	C	R	Disease	Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096	LRP4_HUMAN	529	D	N	Disease	Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096	LRP4_HUMAN	1646	R	Q	Polymorphism	-
O75096	LRP4_HUMAN	137	D	N	Disease	Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096	LRP4_HUMAN	1554	S	G	Polymorphism	-
O75096	LRP4_HUMAN	1203	A	V	Polymorphism	-
O75096	LRP4_HUMAN	1170	R	W	Disease	Sclerosteosis 2 (SOST2) [MIM:614305]
O75096	LRP4_HUMAN	461	T	P	Disease	Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096	LRP4_HUMAN	1086	I	V	Polymorphism	-
O75106	AOC2_HUMAN	22	Y	C	Polymorphism	-
O75106	AOC2_HUMAN	141	P	L	Polymorphism	-
O75106	AOC2_HUMAN	273	R	Q	Polymorphism	-
O75106	AOC2_HUMAN	5	I	V	Polymorphism	-
O75106	AOC2_HUMAN	427	E	D	Polymorphism	-
O75112	LDB3_HUMAN	673	D	N	Disease	Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction (CMD1C) [MIM:601493]
O75112	LDB3_HUMAN	206	T	I	Disease	Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction (CMD1C) [MIM:601493]
O75112	LDB3_HUMAN	55	V	I	Polymorphism	-
O75112	LDB3_HUMAN	101	P	L	Polymorphism	-
O75112	LDB3_HUMAN	345	I	M	Disease	Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction (CMD1C) [MIM:601493]
O75112	LDB3_HUMAN	189	S	L	Disease	Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction (CMD1C) [MIM:601493]
O75112	LDB3_HUMAN	635	V	I	Polymorphism	-
O75116	ROCK2_HUMAN	431	T	N	Polymorphism	-
O75116	ROCK2_HUMAN	1083	K	M	Polymorphism	-
O75116	ROCK2_HUMAN	1194	S	P	Unclassified	A metastatic melanoma sample
O75116	ROCK2_HUMAN	601	D	V	Polymorphism	-
O75123	ZN623_HUMAN	126	N	D	Polymorphism	-
O75127	PTCD1_HUMAN	620	V	G	Polymorphism	-
O75127	PTCD1_HUMAN	356	P	L	Polymorphism	-
O75128	COBL_HUMAN	577	D	A	Polymorphism	-
O75128	COBL_HUMAN	526	P	L	Polymorphism	-
O75128	COBL_HUMAN	607	V	I	Polymorphism	-
O75128	COBL_HUMAN	1015	A	P	Polymorphism	-
O75128	COBL_HUMAN	919	H	Q	Polymorphism	-
O75128	COBL_HUMAN	927	D	N	Polymorphism	-
O75129	ASTN2_HUMAN	229	A	V	Unclassified	-
O75129	ASTN2_HUMAN	865	R	H	Polymorphism	-
O75129	ASTN2_HUMAN	1149	V	I	Polymorphism	-
O75129	ASTN2_HUMAN	1293	V	L	Unclassified	A breast cancer sample
O75129	ASTN2_HUMAN	70	V	I	Polymorphism	-
O75131	CPNE3_HUMAN	412	T	M	Polymorphism	-
O75131	CPNE3_HUMAN	252	E	D	Polymorphism	-
O75132	ZBED4_HUMAN	420	I	V	Polymorphism	-
O75140	DEPD5_HUMAN	864	T	M	Disease	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	452	A	V	Disease	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	272	V	L	Disease	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	542	Q	P	Unclassified	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	1162	S	G	Disease	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	491	S	T	Polymorphism	-
O75140	DEPD5_HUMAN	641	A	V	Polymorphism	-
O75140	DEPD5_HUMAN	1081	T	P	Unclassified	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	1073	S	R	Disease	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	1154	S	F	Unclassified	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	214	H	D	Unclassified	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	1268	R	Q	Unclassified	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	1065	K	R	Unclassified	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	1104	S	L	Disease	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	712	S	F	Polymorphism	-
O75140	DEPD5_HUMAN	90	V	I	Disease	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75140	DEPD5_HUMAN	485	R	Q	Disease	Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]
O75144	ICOSL_HUMAN	128	V	I	Polymorphism	-
O75145	LIPA3_HUMAN	563	A	S	Polymorphism	-
O75146	HIP1R_HUMAN	943	N	S	Polymorphism	-
O75146	HIP1R_HUMAN	782	V	M	Polymorphism	-
O75146	HIP1R_HUMAN	516	K	Q	Polymorphism	-
O75146	HIP1R_HUMAN	404	K	Q	Polymorphism	-
O75146	HIP1R_HUMAN	345	N	S	Polymorphism	-
O75150	BRE1B_HUMAN	463	R	H	Polymorphism	-
O75150	BRE1B_HUMAN	615	R	Q	Polymorphism	-
O75151	PHF2_HUMAN	1058	S	L	Polymorphism	-
O75151	PHF2_HUMAN	56	T	P	Polymorphism	-
O75152	ZC11A_HUMAN	640	T	N	Polymorphism	-
O75153	CLU_HUMAN	633	A	V	Polymorphism	-
O75155	CAND2_HUMAN	858	H	P	Polymorphism	-
O75155	CAND2_HUMAN	1225	A	T	Polymorphism	-
O75155	CAND2_HUMAN	990	V	I	Polymorphism	-
O75155	CAND2_HUMAN	845	L	F	Polymorphism	-
O75155	CAND2_HUMAN	408	Q	R	Polymorphism	-
O75155	CAND2_HUMAN	655	H	R	Polymorphism	-
O75155	CAND2_HUMAN	476	P	L	Polymorphism	-
O75155	CAND2_HUMAN	533	S	P	Polymorphism	-
O75157	T22D2_HUMAN	419	A	T	Polymorphism	-
O75161	NPHP4_HUMAN	469	R	W	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	29	T	M	Polymorphism	-
O75161	NPHP4_HUMAN	946	T	A	Disease	Senior-Loken syndrome 4 (SLSN4) [MIM:606996]
O75161	NPHP4_HUMAN	1192	R	W	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	618	E	K	Polymorphism	-
O75161	NPHP4_HUMAN	342	R	C	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	754	G	R	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	776	P	R	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	654	A	G	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	740	R	H	Polymorphism	-
O75161	NPHP4_HUMAN	1098	A	T	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	1284	R	C	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	766	Q	R	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	782	H	Q	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	735	R	W	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	991	F	S	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	91	F	L	Disease	Senior-Loken syndrome 4 (SLSN4) [MIM:606996]
O75161	NPHP4_HUMAN	765	V	I	Polymorphism	-
O75161	NPHP4_HUMAN	544	A	G	Polymorphism	-
O75161	NPHP4_HUMAN	3	D	Y	Disease	Senior-Loken syndrome 4 (SLSN4) [MIM:606996]
O75161	NPHP4_HUMAN	906	R	C	Unclassified	-
O75161	NPHP4_HUMAN	883	V	M	Unclassified	-
O75161	NPHP4_HUMAN	848	R	W	Polymorphism	-
O75161	NPHP4_HUMAN	1044	R	H	Polymorphism	-
O75161	NPHP4_HUMAN	160	R	L	Unclassified	-
O75161	NPHP4_HUMAN	961	R	H	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	939	L	Q	Polymorphism	-
O75161	NPHP4_HUMAN	627	T	M	Disease	Senior-Loken syndrome 4 (SLSN4) [MIM:606996]
O75161	NPHP4_HUMAN	1287	Q	E	Disease	Nephronophthisis 4 (NPHP4) [MIM:606966]
O75161	NPHP4_HUMAN	1225	T	M	Disease	Senior-Loken syndrome 4 (SLSN4) [MIM:606996]
O75161	NPHP4_HUMAN	959	R	Q	Polymorphism	-
O75161	NPHP4_HUMAN	1110	A	V	Unclassified	-
O75161	NPHP4_HUMAN	1236	V	M	Polymorphism	-
O75161	NPHP4_HUMAN	315	T	M	Polymorphism	-
O75161	NPHP4_HUMAN	164	H	Y	Unclassified	-
O75161	NPHP4_HUMAN	541	P	L	Unclassified	-
O75164	KDM4A_HUMAN	877	V	G	Polymorphism	-
O75164	KDM4A_HUMAN	482	A	E	Polymorphism	-
O75165	DJC13_HUMAN	556	L	S	Polymorphism	-
O75165	DJC13_HUMAN	2115	R	L	Polymorphism	-
O75165	DJC13_HUMAN	1291	E	G	Polymorphism	-
O75165	DJC13_HUMAN	722	V	L	Unclassified	Parkinson disease (PARK) [MIM:168600]
O75165	DJC13_HUMAN	1266	R	Q	Unclassified	Parkinson disease (PARK) [MIM:168600]
O75165	DJC13_HUMAN	674	D	A	Polymorphism	-
O75165	DJC13_HUMAN	1895	T	M	Unclassified	Parkinson disease (PARK) [MIM:168600]
O75165	DJC13_HUMAN	1463	A	S	Polymorphism	-
O75165	DJC13_HUMAN	2057	A	S	Polymorphism	-
O75165	DJC13_HUMAN	997	L	F	Polymorphism	-
O75165	DJC13_HUMAN	2170	L	W	Polymorphism	-
O75165	DJC13_HUMAN	903	R	K	Polymorphism	-
O75165	DJC13_HUMAN	1135	N	S	Polymorphism	-
O75165	DJC13_HUMAN	1740	E	Q	Polymorphism	-
O75165	DJC13_HUMAN	1515	P	S	Polymorphism	-
O75165	DJC13_HUMAN	264	E	Q	Polymorphism	-
O75165	DJC13_HUMAN	1995	V	I	Polymorphism	-
O75165	DJC13_HUMAN	855	N	S	Unclassified	Parkinson disease (PARK) [MIM:168600]
O75165	DJC13_HUMAN	1487	F	C	Polymorphism	-
O75165	DJC13_HUMAN	1516	R	H	Polymorphism	-
O75165	DJC13_HUMAN	1082	T	I	Polymorphism	-
O75167	PHAR2_HUMAN	165	P	S	Polymorphism	-
O75167	PHAR2_HUMAN	449	I	V	Polymorphism	-
O75170	PP6R2_HUMAN	732	R	K	Polymorphism	-
O75170	PP6R2_HUMAN	633	D	E	Polymorphism	-
O75173	ATS4_HUMAN	552	P	T	Polymorphism	-
O75173	ATS4_HUMAN	626	Q	R	Polymorphism	-
O75173	ATS4_HUMAN	369	M	V	Polymorphism	-
O75173	ATS4_HUMAN	836	R	K	Polymorphism	-
O75173	ATS4_HUMAN	564	T	A	Polymorphism	-
O75173	ATS4_HUMAN	4	T	I	Polymorphism	-
O75173	ATS4_HUMAN	304	D	N	Polymorphism	-
O75173	ATS4_HUMAN	77	A	T	Polymorphism	-
O75177	CREST_HUMAN	189	M	I	Polymorphism	-
O75177	CREST_HUMAN	321	A	T	Polymorphism	-
O75179	ANR17_HUMAN	2560	H	Y	Polymorphism	-
O75185	AT2C2_HUMAN	165	L	M	Polymorphism	-
O75185	AT2C2_HUMAN	604	L	Q	Polymorphism	-
O75185	AT2C2_HUMAN	411	G	S	Polymorphism	-
O75185	AT2C2_HUMAN	466	M	L	Polymorphism	-
O75185	AT2C2_HUMAN	907	L	P	Polymorphism	-
O75190	DNJB6_HUMAN	93	F	L	Disease	Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) [MIM:603511]
O75190	DNJB6_HUMAN	89	F	I	Disease	Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) [MIM:603511]
O75190	DNJB6_HUMAN	96	P	L	Unclassified	-
O75190	DNJB6_HUMAN	96	P	R	Disease	Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) [MIM:603511]
O75191	XYLB_HUMAN	85	D	E	Polymorphism	-
O75191	XYLB_HUMAN	348	N	D	Polymorphism	-
O75191	XYLB_HUMAN	262	Y	N	Polymorphism	-
O75191	XYLB_HUMAN	133	D	N	Polymorphism	-
O75191	XYLB_HUMAN	139	D	E	Polymorphism	-
O75197	LRP5_HUMAN	1517	Y	C	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
O75197	LRP5_HUMAN	638	K	E	Unclassified	Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875]
O75197	LRP5_HUMAN	624	R	W	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
O75197	LRP5_HUMAN	441	E	K	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	356	S	L	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	390	T	K	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	1113	R	C	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	400	A	E	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	409	T	A	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	610	G	R	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	816	Q	P	Polymorphism	-
O75197	LRP5_HUMAN	353	R	Q	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	1551	D	N	Unclassified	Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875]
O75197	LRP5_HUMAN	434	D	N	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	683	D	N	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	460	E	K	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	1099	D	Y	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	1036	R	Q	Unclassified	-
O75197	LRP5_HUMAN	511	D	A	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	242	A	T	Disease	Endosteal hyperostosis, Worth type (WENHY) [MIM:144750]
O75197	LRP5_HUMAN	925	R	C	Unclassified	Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875]
O75197	LRP5_HUMAN	455	S	L	Polymorphism	-
O75197	LRP5_HUMAN	1188	R	W	Disease	Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875]
O75197	LRP5_HUMAN	1529	R	S	Unclassified	Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875]
O75197	LRP5_HUMAN	214	A	V	Disease	Endosteal hyperostosis, Worth type (WENHY) [MIM:144750]
O75197	LRP5_HUMAN	752	R	G	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	1541	T	M	Unclassified	Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875]
O75197	LRP5_HUMAN	852	T	M	Unclassified	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	97	A	V	Polymorphism	-
O75197	LRP5_HUMAN	504	W	C	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	617	F	C	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	203	D	N	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	1525	A	V	Polymorphism	-
O75197	LRP5_HUMAN	173	T	M	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	570	R	Q	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	404	G	R	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	684	V	A	Unclassified	Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875]
O75197	LRP5_HUMAN	381	D	N	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
O75197	LRP5_HUMAN	1135	R	C	Polymorphism	-
O75197	LRP5_HUMAN	111	D	Y	Disease	Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634]
O75197	LRP5_HUMAN	242	A	T	Disease	Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634]
O75197	LRP5_HUMAN	805	R	W	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	1401	G	D	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	522	A	T	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	531	N	I	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	1168	Y	H	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	560	W	C	Unclassified	-
O75197	LRP5_HUMAN	1156	Q	H	Unclassified	-
O75197	LRP5_HUMAN	282	M	V	Unclassified	High bone mass trait (HBM) [MIM:601884]
O75197	LRP5_HUMAN	444	R	C	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	1330	A	V	Polymorphism	-
O75197	LRP5_HUMAN	422	A	T	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	478	W	R	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	570	R	W	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	520	G	V	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	454	V	M	Unclassified	Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875]
O75197	LRP5_HUMAN	535	T	M	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	733	Y	H	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	171	G	V	Disease	High bone mass trait (HBM) [MIM:601884]
O75197	LRP5_HUMAN	494	R	Q	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	1540	T	M	Polymorphism	-
O75197	LRP5_HUMAN	154	R	M	Disease	High bone mass trait (HBM) [MIM:601884]
O75197	LRP5_HUMAN	798	T	A	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	171	G	R	Disease	Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634]
O75197	LRP5_HUMAN	253	T	I	Disease	Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634]
O75197	LRP5_HUMAN	550	G	R	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	667	V	M	Polymorphism	-
O75197	LRP5_HUMAN	1361	C	G	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	1367	E	K	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	610	G	R	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	307	S	F	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	540	L	P	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	214	A	T	Disease	Endosteal hyperostosis, Worth type (WENHY) [MIM:144750]
O75197	LRP5_HUMAN	1204	V	L	Polymorphism	-
O75197	LRP5_HUMAN	29	A	T	Unclassified	-
O75197	LRP5_HUMAN	89	Q	R	Polymorphism	-
O75197	LRP5_HUMAN	348	R	W	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
O75197	LRP5_HUMAN	244	T	M	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197	LRP5_HUMAN	1121	N	D	Unclassified	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	242	A	T	Disease	Van Buchem disease 2 (VBCH2) [MIM:607636]
O75197	LRP5_HUMAN	1537	A	T	Polymorphism	-
O75197	LRP5_HUMAN	1253	C	F	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	145	L	F	Disease	Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197	LRP5_HUMAN	348	R	W	Disease	Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75204	TM127_HUMAN	140	C	R	Disease	Pheochromocytoma (PCC) [MIM:171300]
O75204	TM127_HUMAN	73	G	R	Disease	Pheochromocytoma (PCC) [MIM:171300]
O75204	TM127_HUMAN	90	V	M	Disease	Pheochromocytoma (PCC) [MIM:171300]
O75204	TM127_HUMAN	140	C	Y	Disease	Pheochromocytoma (PCC) [MIM:171300]
O75204	TM127_HUMAN	53	W	S	Disease	Pheochromocytoma (PCC) [MIM:171300]
O75204	TM127_HUMAN	70	D	N	Disease	Pheochromocytoma (PCC) [MIM:171300]
O75204	TM127_HUMAN	94	R	W	Disease	Pheochromocytoma (PCC) [MIM:171300]
O75251	NDUS7_HUMAN	23	P	L	Polymorphism	-
O75251	NDUS7_HUMAN	122	V	M	Disease	Mitochondrial complex I deficiency, nuclear type 3 (MC1DN3) [MIM:618224]
O75298	RTN2_HUMAN	425	R	Q	Polymorphism	-
O75298	RTN2_HUMAN	367	S	F	Disease	Spastic paraplegia 12, autosomal dominant (SPG12) [MIM:604805]
O75306	NDUS2_HUMAN	224	A	V	Polymorphism	-
O75306	NDUS2_HUMAN	20	P	T	Polymorphism	-
O75306	NDUS2_HUMAN	229	P	A	Polymorphism	-
O75306	NDUS2_HUMAN	352	P	A	Polymorphism	-
O75306	NDUS2_HUMAN	413	S	P	Disease	Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228]
O75306	NDUS2_HUMAN	229	P	Q	Disease	Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228]
O75306	NDUS2_HUMAN	228	R	Q	Disease	Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228]
O75309	CAD16_HUMAN	717	R	H	Polymorphism	-
O75309	CAD16_HUMAN	191	L	F	Polymorphism	-
O75309	CAD16_HUMAN	257	H	Y	Polymorphism	-
O75312	ZPR1_HUMAN	264	A	V	Polymorphism	-
O75324	SNN_HUMAN	88	G	S	Polymorphism	-
O75324	SNN_HUMAN	17	V	I	Polymorphism	-
O75325	LRRN2_HUMAN	692	P	S	Polymorphism	-
O75325	LRRN2_HUMAN	518	L	V	Polymorphism	-
O75325	LRRN2_HUMAN	659	V	A	Polymorphism	-
O75325	LRRN2_HUMAN	7	P	L	Polymorphism	-
O75325	LRRN2_HUMAN	19	A	T	Polymorphism	-
O75326	SEM7A_HUMAN	207	R	Q	Polymorphism	-
O75326	SEM7A_HUMAN	347	R	L	Polymorphism	-
O75326	SEM7A_HUMAN	460	R	H	Polymorphism	-
O75326	SEM7A_HUMAN	207	R	W	Polymorphism	-
O75326	SEM7A_HUMAN	115	S	T	Polymorphism	-
O75326	SEM7A_HUMAN	461	R	C	Polymorphism	-
O75330	HMMR_HUMAN	484	A	V	Polymorphism	-
O75330	HMMR_HUMAN	305	N	K	Polymorphism	-
O75330	HMMR_HUMAN	320	N	K	Polymorphism	-
O75330	HMMR_HUMAN	368	V	A	Polymorphism	-
O75330	HMMR_HUMAN	595	L	I	Polymorphism	-
O75330	HMMR_HUMAN	557	D	H	Polymorphism	-
O75330	HMMR_HUMAN	332	R	H	Polymorphism	-
O75330	HMMR_HUMAN	92	R	C	Polymorphism	-
O75333	TBX10_HUMAN	101	K	T	Polymorphism	-
O75333	TBX10_HUMAN	160	Q	H	Polymorphism	-
O75339	CILP1_HUMAN	1168	V	A	Polymorphism	-
O75339	CILP1_HUMAN	979	Q	R	Polymorphism	-
O75339	CILP1_HUMAN	395	I	T	Polymorphism	-
O75339	CILP1_HUMAN	59	W	L	Polymorphism	-
O75339	CILP1_HUMAN	1101	D	N	Polymorphism	-
O75339	CILP1_HUMAN	895	A	V	Polymorphism	-
O75339	CILP1_HUMAN	575	K	E	Polymorphism	-
O75339	CILP1_HUMAN	1166	G	S	Polymorphism	-
O75339	CILP1_HUMAN	327	S	F	Polymorphism	-
O75339	CILP1_HUMAN	1032	S	T	Polymorphism	-
O75339	CILP1_HUMAN	495	R	H	Polymorphism	-
O75340	PDCD6_HUMAN	123	G	C	Unclassified	A breast cancer sample
O75342	LX12B_HUMAN	416	N	K	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	67	I	F	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	383	T	M	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	94	G	S	Polymorphism	-
O75342	LX12B_HUMAN	24	L	P	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	195	F	L	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	521	Y	C	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	597	A	E	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	318	Y	C	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	527	V	M	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	426	L	P	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	127	P	S	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	114	R	W	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	578	H	Q	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	488	R	H	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	462	G	D	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	664	A	P	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	382	K	E	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342	LX12B_HUMAN	679	R	L	Disease	Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75343	GCYB2_HUMAN	316	N	H	Polymorphism	-
O75343	GCYB2_HUMAN	55	Y	C	Polymorphism	-
O75343	GCYB2_HUMAN	128	M	I	Polymorphism	-
O75344	FKBP6_HUMAN	183	R	C	Polymorphism	-
O75351	VPS4B_HUMAN	58	I	M	Polymorphism	-
O75352	MPU1_HUMAN	73	G	E	Disease	Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180]
O75352	MPU1_HUMAN	229	A	T	Polymorphism	-
O75352	MPU1_HUMAN	74	L	S	Disease	Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180]
O75352	MPU1_HUMAN	119	L	P	Disease	Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180]
O75352	MPU1_HUMAN	225	G	S	Polymorphism	-
O75354	ENTP6_HUMAN	138	L	V	Polymorphism	-
O75354	ENTP6_HUMAN	157	R	Q	Polymorphism	-
O75354	ENTP6_HUMAN	323	S	N	Polymorphism	-
O75354	ENTP6_HUMAN	14	S	N	Polymorphism	-
O75354	ENTP6_HUMAN	202	K	E	Polymorphism	-
O75355	ENTP3_HUMAN	505	L	F	Polymorphism	-
O75355	ENTP3_HUMAN	440	E	D	Polymorphism	-
O75355	ENTP3_HUMAN	264	R	Q	Polymorphism	-
O75355	ENTP3_HUMAN	24	I	V	Polymorphism	-
O75355	ENTP3_HUMAN	496	A	V	Polymorphism	-
O75356	ENTP5_HUMAN	314	K	R	Polymorphism	-
O75360	PROP1_HUMAN	120	R	C	Disease	Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600]
O75360	PROP1_HUMAN	73	R	H	Disease	Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600]
O75360	PROP1_HUMAN	99	R	Q	Disease	Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600]
O75360	PROP1_HUMAN	125	R	W	Disease	Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600]
O75360	PROP1_HUMAN	142	A	T	Polymorphism	-
O75360	PROP1_HUMAN	117	F	I	Disease	Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600]
O75360	PROP1_HUMAN	73	R	C	Disease	Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600]
O75360	PROP1_HUMAN	20	N	S	Polymorphism	-
O75360	PROP1_HUMAN	88	F	S	Disease	Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600]
O75362	ZN217_HUMAN	889	D	G	Polymorphism	-
O75362	ZN217_HUMAN	323	D	N	Unclassified	A colorectal cancer sample
O75362	ZN217_HUMAN	739	V	I	Polymorphism	-
O75363	BCAS1_HUMAN	255	G	E	Polymorphism	-
O75363	BCAS1_HUMAN	163	V	A	Polymorphism	-
O75363	BCAS1_HUMAN	24	Q	K	Polymorphism	-
O75363	BCAS1_HUMAN	472	Q	H	Polymorphism	-
O75363	BCAS1_HUMAN	583	S	P	Polymorphism	-
O75364	PITX3_HUMAN	13	S	N	Disease	Cataract 11, multiple types (CTRCT11) [MIM:610623]
O75366	AVIL_HUMAN	204	K	E	Polymorphism	-
O75369	FLNB_HUMAN	1534	A	G	Unclassified	A breast cancer sample
O75369	FLNB_HUMAN	1431	L	R	Disease	Larsen syndrome (LRS) [MIM:150250]
O75369	FLNB_HUMAN	1471	V	M	Polymorphism	-
O75369	FLNB_HUMAN	1592	V	D	Disease	Larsen syndrome (LRS) [MIM:150250]
O75369	FLNB_HUMAN	234	L	V	Disease	Larsen syndrome (LRS) [MIM:150250]
O75369	FLNB_HUMAN	227	E	K	Disease	Larsen syndrome (LRS) [MIM:150250]
O75369	FLNB_HUMAN	1179	E	K	Polymorphism	-
O75369	FLNB_HUMAN	188	S	P	Disease	Atelosteogenesis 1 (AO1) [MIM:108720]
O75369	FLNB_HUMAN	663	N	K	Unclassified	A breast cancer sample
O75369	FLNB_HUMAN	168	G	S	Disease	Larsen syndrome (LRS) [MIM:150250]
O75369	FLNB_HUMAN	171	L	R	Disease	Boomerang dysplasia (BOOMD) [MIM:112310]
O75369	FLNB_HUMAN	161	F	C	Disease	Larsen syndrome (LRS) [MIM:150250]
O75369	FLNB_HUMAN	1586	G	R	Disease	Larsen syndrome (LRS) [MIM:150250]
O75369	FLNB_HUMAN	202	M	V	Disease	Atelosteogenesis 1 (AO1) [MIM:108720]
O75369	FLNB_HUMAN	1603	P	L	Disease	Larsen syndrome (LRS) [MIM:150250]
O75369	FLNB_HUMAN	566	R	Q	Unclassified	A breast cancer sample
O75369	FLNB_HUMAN	751	G	R	Disease	Atelosteogenesis 3 (AO3) [MIM:108721]
O75369	FLNB_HUMAN	703	T	K	Unclassified	A breast cancer sample
O75369	FLNB_HUMAN	1157	D	N	Polymorphism	-
O75369	FLNB_HUMAN	1691	G	S	Disease	Larsen syndrome (LRS) [MIM:150250]
O75369	FLNB_HUMAN	235	S	P	Disease	Boomerang dysplasia (BOOMD) [MIM:112310]
O75369	FLNB_HUMAN	1018	V	M	Polymorphism	-
O75369	FLNB_HUMAN	1834	G	R	Disease	Larsen syndrome (LRS) [MIM:150250]
O75369	FLNB_HUMAN	361	G	S	Disease	Larsen syndrome (LRS) [MIM:150250]
O75369	FLNB_HUMAN	173	A	V	Disease	Atelosteogenesis 1 (AO1) [MIM:108720]
O75369	FLNB_HUMAN	202	M	V	Disease	Atelosteogenesis 3 (AO3) [MIM:108721]
O75369	FLNB_HUMAN	363	G	E	Disease	Larsen syndrome (LRS) [MIM:150250]
O75373	ZN737_HUMAN	125	V	L	Polymorphism	-
O75373	ZN737_HUMAN	78	C	S	Polymorphism	-
O75373	ZN737_HUMAN	492	R	C	Polymorphism	-
O75373	ZN737_HUMAN	516	K	E	Polymorphism	-
O75380	NDUS6_HUMAN	115	C	Y	Disease	Mitochondrial complex I deficiency, nuclear type 9 (MC1DN9) [MIM:618232]
O75381	PEX14_HUMAN	320	R	K	Polymorphism	-
O75381	PEX14_HUMAN	117	A	S	Polymorphism	-
O75381	PEX14_HUMAN	150	A	S	Polymorphism	-
O75382	TRIM3_HUMAN	298	L	R	Polymorphism	-
O75385	ULK1_HUMAN	478	P	L	Polymorphism	-
O75385	ULK1_HUMAN	665	S	L	Polymorphism	-
O75385	ULK1_HUMAN	714	P	L	Polymorphism	-
O75385	ULK1_HUMAN	503	T	M	Polymorphism	-
O75385	ULK1_HUMAN	816	T	A	Polymorphism	-
O75385	ULK1_HUMAN	290	V	M	Unclassified	An ovarian mucinous carcinoma sample
O75385	ULK1_HUMAN	298	S	L	Polymorphism	-
O75385	ULK1_HUMAN	784	S	C	Unclassified	A lung adenocarcinoma sample
O75387	LAT3_HUMAN	443	H	Y	Polymorphism	-
O75387	LAT3_HUMAN	238	G	V	Polymorphism	-
O75388	GPR32_HUMAN	327	F	L	Polymorphism	-
O75396	SC22B_HUMAN	214	W	C	Polymorphism	-
O75396	SC22B_HUMAN	130	C	R	Polymorphism	-
O75396	SC22B_HUMAN	108	R	Q	Polymorphism	-
O75396	SC22B_HUMAN	190	H	R	Polymorphism	-
O75396	SC22B_HUMAN	82	T	K	Polymorphism	-
O75396	SC22B_HUMAN	71	D	Y	Polymorphism	-
O75398	DEAF1_HUMAN	224	R	W	Disease	Mental retardation, autosomal dominant 24 (MRD24) [MIM:615828]
O75398	DEAF1_HUMAN	191	K	N	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	545	A	G	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	367	Q	H	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	364	S	N	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	356	E	H	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	530	R	L	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	264	Q	P	Disease	Mental retardation, autosomal dominant 24 (MRD24) [MIM:615828]
O75398	DEAF1_HUMAN	191	K	I	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	370	V	L	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	468	Q	H	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	442	V	A	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	526	T	N	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	186	E	V	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	226	R	W	Polymorphism	-
O75398	DEAF1_HUMAN	218	R	K	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	542	Q	H	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	254	R	S	Disease	Mental retardation, autosomal dominant 24 (MRD24) [MIM:615828]
O75398	DEAF1_HUMAN	228	I	S	Disease	Mental retardation, autosomal dominant 24 (MRD24) [MIM:615828]
O75398	DEAF1_HUMAN	479	H	L	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	202	E	D	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	498	E	K	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	545	A	V	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	397	Y	F	Unclassified	A primary colorectal cancer
O75398	DEAF1_HUMAN	449	E	K	Unclassified	A primary colorectal cancer
O75409	HYPM_HUMAN	68	V	I	Polymorphism	-
O75410	TACC1_HUMAN	255	E	G	Polymorphism	-
O75410	TACC1_HUMAN	187	P	L	Polymorphism	-
O75410	TACC1_HUMAN	243	I	T	Polymorphism	-
O75417	DPOLQ_HUMAN	1056	P	L	Polymorphism	-
O75419	CDC45_HUMAN	264	S	Y	Unclassified	Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]
O75419	CDC45_HUMAN	321	P	T	Unclassified	Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]
O75419	CDC45_HUMAN	298	A	V	Disease	Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]
O75419	CDC45_HUMAN	376	V	M	Polymorphism	-
O75419	CDC45_HUMAN	157	R	C	Disease	Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]
O75419	CDC45_HUMAN	463	P	L	Unclassified	Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]
O75419	CDC45_HUMAN	76	N	H	Disease	Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]
O75419	CDC45_HUMAN	496	P	L	Unclassified	Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]
O75419	CDC45_HUMAN	356	M	R	Polymorphism	-
O75419	CDC45_HUMAN	226	D	G	Disease	Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]
O75419	CDC45_HUMAN	155	E	G	Unclassified	Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]
O75419	CDC45_HUMAN	81	V	I	Polymorphism	-
O75419	CDC45_HUMAN	68	Q	R	Disease	Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]
O75419	CDC45_HUMAN	554	R	W	Unclassified	Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]
O75426	FBX24_HUMAN	302	R	H	Polymorphism	-
O75427	LRCH4_HUMAN	642	V	M	Polymorphism	-
O75437	ZN254_HUMAN	93	D	G	Polymorphism	-
O75437	ZN254_HUMAN	457	T	A	Polymorphism	-
O75437	ZN254_HUMAN	537	K	N	Polymorphism	-
O75437	ZN254_HUMAN	386	A	T	Polymorphism	-
O75437	ZN254_HUMAN	594	V	I	Polymorphism	-
O75439	MPPB_HUMAN	175	R	C	Disease	Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) [MIM:617954]
O75439	MPPB_HUMAN	201	A	P	Disease	Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) [MIM:617954]
O75439	MPPB_HUMAN	422	I	T	Disease	Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) [MIM:617954]
O75439	MPPB_HUMAN	175	R	H	Disease	Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) [MIM:617954]
O75439	MPPB_HUMAN	177	V	G	Disease	Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) [MIM:617954]
O75439	MPPB_HUMAN	396	E	D	Polymorphism	-
O75443	TECTA_HUMAN	1584	S	T	Polymorphism	-
O75443	TECTA_HUMAN	19	Q	R	Polymorphism	-
O75443	TECTA_HUMAN	284	R	H	Unclassified	A breast cancer sample
O75443	TECTA_HUMAN	562	T	M	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	197	D	N	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	371	R	G	Polymorphism	-
O75443	TECTA_HUMAN	771	I	N	Unclassified	A breast cancer sample
O75443	TECTA_HUMAN	1824	G	D	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1791	P	R	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1057	C	S	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	813	N	T	Unclassified	A breast cancer sample
O75443	TECTA_HUMAN	1837	C	G	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	886	N	S	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	211	F	S	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	317	V	E	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1866	T	M	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1509	C	G	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1947	R	C	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1867	H	R	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	362	S	C	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	2100	S	T	Polymorphism	-
O75443	TECTA_HUMAN	465	N	K	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1619	C	S	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	932	V	A	Polymorphism	-
O75443	TECTA_HUMAN	2009	I	T	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1898	C	R	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	815	T	M	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1870	Y	C	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1036	C	Y	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	2021	R	H	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1248	P	L	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1517	C	R	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1098	A	V	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1820	L	F	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1878	S	R	Polymorphism	-
O75443	TECTA_HUMAN	1724	S	N	Polymorphism	-
O75443	TECTA_HUMAN	1837	C	R	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1890	R	C	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75443	TECTA_HUMAN	1136	D	H	Disease	Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]
O75444	MAF_HUMAN	54	S	L	Disease	Ayme-Gripp syndrome (AYGRP) [MIM:601088]
O75444	MAF_HUMAN	59	P	L	Disease	Ayme-Gripp syndrome (AYGRP) [MIM:601088]
O75444	MAF_HUMAN	58	T	I	Disease	Ayme-Gripp syndrome (AYGRP) [MIM:601088]
O75444	MAF_HUMAN	69	P	R	Disease	Ayme-Gripp syndrome (AYGRP) [MIM:601088]
O75444	MAF_HUMAN	59	P	H	Disease	Ayme-Gripp syndrome (AYGRP) [MIM:601088]
O75444	MAF_HUMAN	288	R	P	Disease	Cataract 21, multiple types (CTRCT21) [MIM:610202]
O75444	MAF_HUMAN	297	K	R	Disease	Cataract 21, multiple types (CTRCT21) [MIM:610202]
O75444	MAF_HUMAN	58	T	A	Disease	Ayme-Gripp syndrome (AYGRP) [MIM:601088]
O75444	MAF_HUMAN	303	Q	L	Disease	Cataract 21, multiple types (CTRCT21) [MIM:610202]
O75444	MAF_HUMAN	62	T	R	Disease	Ayme-Gripp syndrome (AYGRP) [MIM:601088]
O75445	USH2A_HUMAN	3358	C	Y	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	382	V	M	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	610	H	P	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	1470	L	R	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	3515	D	G	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3479	W	C	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	478	E	D	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	703	D	E	Polymorphism	-
O75445	USH2A_HUMAN	419	C	F	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	555	L	V	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3462	T	I	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	713	G	R	Polymorphism	-
O75445	USH2A_HUMAN	1349	S	P	Polymorphism	-
O75445	USH2A_HUMAN	759	C	F	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	2460	R	H	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	2744	W	C	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	934	C	W	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	419	C	F	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	3115	T	A	Polymorphism	-
O75445	USH2A_HUMAN	3088	E	K	Polymorphism	-
O75445	USH2A_HUMAN	4115	R	C	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	2811	P	T	Unclassified	-
O75445	USH2A_HUMAN	3546	G	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	691	C	Y	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2354	R	H	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4881	S	T	Polymorphism	-
O75445	USH2A_HUMAN	5188	S	G	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	2795	A	S	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2562	V	A	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3669	S	R	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	1859	F	C	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	453	T	I	Unclassified	-
O75445	USH2A_HUMAN	644	D	V	Polymorphism	-
O75445	USH2A_HUMAN	3384	S	Y	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	1442	F	S	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	44	G	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3124	R	G	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2292	R	H	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	5143	R	C	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	5143	R	H	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	4203	Q	R	Polymorphism	-
O75445	USH2A_HUMAN	4192	R	H	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	1757	Y	C	Polymorphism	-
O75445	USH2A_HUMAN	2639	S	P	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	536	C	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2573	R	H	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	4611	A	V	Polymorphism	-
O75445	USH2A_HUMAN	1840	G	V	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4844	T	M	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	4848	R	Q	Polymorphism	-
O75445	USH2A_HUMAN	1572	L	F	Polymorphism	-
O75445	USH2A_HUMAN	4425	T	M	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	180	S	P	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3504	P	A	Unclassified	-
O75445	USH2A_HUMAN	2820	V	I	Polymorphism	-
O75445	USH2A_HUMAN	2260	S	P	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	1777	R	W	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	478	E	D	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	2116	H	R	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2196	S	T	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	1843	P	L	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	1486	R	K	Polymorphism	-
O75445	USH2A_HUMAN	365	L	F	Polymorphism	-
O75445	USH2A_HUMAN	4918	T	M	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	739	F	L	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	1515	T	M	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	334	R	Q	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	303	R	C	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2738	D	N	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2786	F	S	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	5031	R	W	Polymorphism	-
O75445	USH2A_HUMAN	2930	N	K	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	2128	C	F	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2128	C	Y	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3529	G	S	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3448	E	K	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	516	G	V	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	1212	P	L	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	5145	V	I	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	575	C	S	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	761	P	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2752	G	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2886	L	F	Polymorphism	-
O75445	USH2A_HUMAN	1684	P	L	Unclassified	-
O75445	USH2A_HUMAN	1861	G	S	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	841	S	Y	Polymorphism	-
O75445	USH2A_HUMAN	2237	D	Y	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	1978	P	S	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	3894	N	D	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4493	R	H	Polymorphism	-
O75445	USH2A_HUMAN	4570	R	H	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	391	S	I	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2394	N	K	Polymorphism	-
O75445	USH2A_HUMAN	163	C	Y	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3618	G	S	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	3144	D	N	Polymorphism	-
O75445	USH2A_HUMAN	1665	I	T	Polymorphism	-
O75445	USH2A_HUMAN	4115	R	C	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3719	R	H	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	280	L	F	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	1836	P	T	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	1953	A	G	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	1047	L	V	Polymorphism	-
O75445	USH2A_HUMAN	595	F	S	Polymorphism	-
O75445	USH2A_HUMAN	1059	P	L	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	517	R	T	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	5063	L	R	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	2875	R	Q	Polymorphism	-
O75445	USH2A_HUMAN	346	N	H	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4425	T	M	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	4763	G	R	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	759	C	F	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2169	I	T	Polymorphism	-
O75445	USH2A_HUMAN	3606	L	P	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	319	C	Y	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	1734	G	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	464	R	C	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	911	T	N	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	5026	K	E	Polymorphism	-
O75445	USH2A_HUMAN	3904	R	K	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3747	Y	C	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3335	I	M	Polymorphism	-
O75445	USH2A_HUMAN	4674	R	G	Disease	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	4447	M	V	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	3411	E	A	Polymorphism	-
O75445	USH2A_HUMAN	1833	V	E	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4439	T	I	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2086	T	N	Polymorphism	-
O75445	USH2A_HUMAN	4174	S	R	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	303	R	S	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2080	K	N	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3571	T	M	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	479	F	S	Polymorphism	-
O75445	USH2A_HUMAN	284	E	K	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	357	N	T	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3199	N	D	Polymorphism	-
O75445	USH2A_HUMAN	4778	A	D	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	352	T	I	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	125	A	T	Polymorphism	-
O75445	USH2A_HUMAN	2377	N	S	Polymorphism	-
O75445	USH2A_HUMAN	2249	A	D	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4739	R	K	Polymorphism	-
O75445	USH2A_HUMAN	4248	H	N	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	4921	E	K	Polymorphism	-
O75445	USH2A_HUMAN	2106	I	T	Polymorphism	-
O75445	USH2A_HUMAN	230	V	M	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4337	T	M	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4808	C	R	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	334	R	W	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3835	T	I	Polymorphism	-
O75445	USH2A_HUMAN	4386	I	F	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4838	G	E	Polymorphism	-
O75445	USH2A_HUMAN	4692	G	R	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	218	V	E	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4840	L	P	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	268	G	R	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3099	N	S	Polymorphism	-
O75445	USH2A_HUMAN	4054	S	I	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4624	F	V	Polymorphism	-
O75445	USH2A_HUMAN	3895	G	E	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	2238	E	A	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4795	L	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4817	G	R	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	307	S	I	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3282	C	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4818	P	L	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3267	C	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3868	M	V	Polymorphism	-
O75445	USH2A_HUMAN	3521	W	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3976	T	M	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4487	Y	C	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4592	Q	H	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4433	V	L	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3844	I	M	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3893	P	T	Polymorphism	-
O75445	USH2A_HUMAN	4662	Q	E	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	3251	C	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4616	G	V	Polymorphism	-
O75445	USH2A_HUMAN	3590	P	L	Polymorphism	-
O75445	USH2A_HUMAN	4094	N	K	Unclassified	Retinitis pigmentosa 39 (RP39) [MIM:613809]
O75445	USH2A_HUMAN	3504	P	T	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4232	P	R	Disease	Usher syndrome 2A (USH2A) [MIM:276901]
O75445	USH2A_HUMAN	4269	P	R	Unclassified	Usher syndrome 2A (USH2A) [MIM:276901]
O75448	MED24_HUMAN	204	A	T	Polymorphism	-
O75459	PAGE1_HUMAN	75	L	P	Polymorphism	-
O75460	ERN1_HUMAN	418	V	M	Polymorphism	-
O75460	ERN1_HUMAN	635	R	W	Unclassified	A gastric adenocarcinoma sample
O75460	ERN1_HUMAN	700	N	S	Polymorphism	-
O75460	ERN1_HUMAN	474	L	R	Unclassified	A lung adenocarcinoma sample
O75460	ERN1_HUMAN	830	P	L	Unclassified	An ovarian serous carcinoma sample
O75460	ERN1_HUMAN	244	N	S	Unclassified	A renal clear cell carcinoma sample
O75460	ERN1_HUMAN	769	S	F	Unclassified	A glioblastoma multiforme sample
O75462	CRLF1_HUMAN	138	P	L	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	74	L	P	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	81	R	H	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	113	N	I	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	76	W	G	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	216	R	C	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	374	L	R	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	176	R	K	Polymorphism	-
O75462	CRLF1_HUMAN	114	L	P	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	312	R	P	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	75	Y	D	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	145	S	P	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	268	F	S	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	284	W	C	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462	CRLF1_HUMAN	340	R	C	Disease	Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75469	NR1I2_HUMAN	36	G	R	Polymorphism	-
O75469	NR1I2_HUMAN	370	A	T	Polymorphism	-
O75469	NR1I2_HUMAN	12	A	T	Polymorphism	-
O75469	NR1I2_HUMAN	381	R	W	Polymorphism	-
O75469	NR1I2_HUMAN	122	R	Q	Polymorphism	-
O75469	NR1I2_HUMAN	403	I	V	Polymorphism	-
O75469	NR1I2_HUMAN	98	R	C	Polymorphism	-
O75469	NR1I2_HUMAN	148	R	Q	Polymorphism	-
O75469	NR1I2_HUMAN	27	P	S	Polymorphism	-
O75469	NR1I2_HUMAN	18	E	K	Polymorphism	-
O75473	LGR5_HUMAN	383	H	R	Polymorphism	-
O75473	LGR5_HUMAN	666	V	A	Polymorphism	-
O75477	ERLN1_HUMAN	50	G	V	Disease	Spastic paraplegia 62, autosomal recessive (SPG62) [MIM:615681]
O75478	TAD2A_HUMAN	115	M	V	Polymorphism	-
O75478	TAD2A_HUMAN	351	I	M	Polymorphism	-
O75478	TAD2A_HUMAN	6	P	S	Polymorphism	-
O75486	SUPT3_HUMAN	242	D	A	Polymorphism	-
O75487	GPC4_HUMAN	391	E	D	Polymorphism	-
O75487	GPC4_HUMAN	442	A	V	Polymorphism	-
O75489	NDUS3_HUMAN	140	R	W	Unclassified	Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) [MIM:618230]
O75489	NDUS3_HUMAN	145	T	I	Disease	Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) [MIM:618230]
O75489	NDUS3_HUMAN	249	P	Q	Polymorphism	-
O75489	NDUS3_HUMAN	199	R	W	Disease	Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) [MIM:618230]
O75496	GEMI_HUMAN	54	R	W	Polymorphism	-
O75496	GEMI_HUMAN	15	N	H	Polymorphism	-
O75496	GEMI_HUMAN	48	L	F	Polymorphism	-
O75496	GEMI_HUMAN	17	K	R	Disease	Meier-Gorlin syndrome 6 (MGORS6) [MIM:616835]
O75496	GEMI_HUMAN	18	N	T	Polymorphism	-
O75496	GEMI_HUMAN	203	T	M	Polymorphism	-
O75496	GEMI_HUMAN	60	S	P	Polymorphism	-
O75503	CLN5_HUMAN	63	R	H	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	325	Y	C	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	158	W	R	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	156	P	S	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	330	W	C	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	219	E	A	Polymorphism	-
O75503	CLN5_HUMAN	158	W	S	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	193	N	K	Polymorphism	-
O75503	CLN5_HUMAN	149	L	P	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	209	Y	D	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	63	R	P	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	143	N	S	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	319	K	R	Polymorphism	-
O75503	CLN5_HUMAN	230	D	N	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	77	C	Y	Disease	Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503	CLN5_HUMAN	26	W	R	Polymorphism	-
O75521	ECI2_HUMAN	47	M	I	Polymorphism	-
O75521	ECI2_HUMAN	344	A	V	Polymorphism	-
O75526	RMXL2_HUMAN	134	T	A	Polymorphism	-
O75526	RMXL2_HUMAN	66	A	V	Polymorphism	-
O75526	RMXL2_HUMAN	308	Y	C	Polymorphism	-
O75526	RMXL2_HUMAN	15	L	F	Polymorphism	-
O75530	EED_HUMAN	236	R	G	Disease	Cohen-Gibson syndrome (COGIS) [MIM:617561]
O75530	EED_HUMAN	302	R	S	Disease	Cohen-Gibson syndrome (COGIS) [MIM:617561]
O75530	EED_HUMAN	194	N	S	Disease	Cohen-Gibson syndrome (COGIS) [MIM:617561]
O75530	EED_HUMAN	302	R	G	Disease	Cohen-Gibson syndrome (COGIS) [MIM:617561]
O75530	EED_HUMAN	236	R	T	Disease	Cohen-Gibson syndrome (COGIS) [MIM:617561]
O75530	EED_HUMAN	258	H	Y	Disease	Cohen-Gibson syndrome (COGIS) [MIM:617561]
O75531	BAF_HUMAN	12	A	T	Disease	Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008]
O75553	DAB1_HUMAN	71	V	I	Polymorphism	-
O75554	WBP4_HUMAN	113	K	R	Unclassified	A breast cancer sample
O75558	STX11_HUMAN	31	E	Q	Polymorphism	-
O75558	STX11_HUMAN	49	R	Q	Polymorphism	-
O75558	STX11_HUMAN	277	T	A	Polymorphism	-
O75558	STX11_HUMAN	204	L	H	Polymorphism	-
O75563	SKAP2_HUMAN	202	A	S	Polymorphism	-
O75563	SKAP2_HUMAN	253	S	T	Polymorphism	-
O75569	PRKRA_HUMAN	222	P	L	Disease	Dystonia 16 (DYT16) [MIM:612067]
O75570	RF1M_HUMAN	407	I	V	Polymorphism	-
O75570	RF1M_HUMAN	2	N	S	Polymorphism	-
O75570	RF1M_HUMAN	324	L	V	Polymorphism	-
O75578	ITA10_HUMAN	725	R	Q	Polymorphism	-
O75578	ITA10_HUMAN	668	R	W	Polymorphism	-
O75578	ITA10_HUMAN	702	A	T	Polymorphism	-
O75578	ITA10_HUMAN	691	R	H	Polymorphism	-
O75578	ITA10_HUMAN	381	R	Q	Polymorphism	-
O75581	LRP6_HUMAN	611	R	C	Disease	Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947]
O75581	LRP6_HUMAN	19	A	V	Disease	Tooth agenesis, selective, 7 (STHAG7) [MIM:616724]
O75581	LRP6_HUMAN	473	R	Q	Disease	Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947]
O75581	LRP6_HUMAN	483	V	I	Polymorphism	-
O75581	LRP6_HUMAN	817	S	C	Polymorphism	-
O75581	LRP6_HUMAN	1401	R	H	Polymorphism	-
O75581	LRP6_HUMAN	433	N	S	Disease	Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947]
O75581	LRP6_HUMAN	1062	V	I	Polymorphism	-
O75581	LRP6_HUMAN	360	R	H	Disease	Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947]
O75582	KS6A5_HUMAN	574	P	L	Polymorphism	-
O75582	KS6A5_HUMAN	554	D	N	Polymorphism	-
O75582	KS6A5_HUMAN	190	H	R	Polymorphism	-
O75582	KS6A5_HUMAN	599	Y	C	Polymorphism	-
O75592	MYCB2_HUMAN	1919	A	S	Polymorphism	-
O75592	MYCB2_HUMAN	2626	V	M	Polymorphism	-
O75593	FOXH1_HUMAN	113	S	T	Unclassified	Colorectal cancer
O75593	FOXH1_HUMAN	125	T	S	Unclassified	Colorectal cancer
O75594	PGRP1_HUMAN	34	V	G	Polymorphism	-
O75596	CLC3A_HUMAN	197	Q	K	Polymorphism	-
O75600	KBL_HUMAN	100	S	N	Polymorphism	-
O75600	KBL_HUMAN	39	R	C	Polymorphism	-
O75602	SPAG6_HUMAN	106	V	L	Unclassified	A breast cancer sample
O75602	SPAG6_HUMAN	216	Q	R	Polymorphism	-
O75603	GCM2_HUMAN	110	R	W	Disease	Hypoparathyroidism, familial isolated (FIH) [MIM:146200]
O75603	GCM2_HUMAN	53	D	N	Polymorphism	-
O75603	GCM2_HUMAN	502	N	H	Disease	Hypoparathyroidism, familial isolated (FIH) [MIM:146200]
O75603	GCM2_HUMAN	251	Q	E	Disease	Hyperparathyroidism 4 (HRPT4) [MIM:617343]
O75603	GCM2_HUMAN	63	G	S	Disease	Hypoparathyroidism, familial isolated (FIH) [MIM:146200]
O75603	GCM2_HUMAN	282	Y	D	Polymorphism	-
O75603	GCM2_HUMAN	382	V	M	Unclassified	Hyperparathyroidism 4 (HRPT4) [MIM:617343]
O75603	GCM2_HUMAN	227	I	V	Polymorphism	-
O75603	GCM2_HUMAN	117	A	V	Polymorphism	-
O75603	GCM2_HUMAN	203	G	S	Polymorphism	-
O75603	GCM2_HUMAN	379	L	Q	Disease	Hyperparathyroidism 4 (HRPT4) [MIM:617343]
O75603	GCM2_HUMAN	47	R	L	Disease	Hypoparathyroidism, familial isolated (FIH) [MIM:146200]
O75603	GCM2_HUMAN	315	N	D	Polymorphism	-
O75603	GCM2_HUMAN	394	Y	S	Disease	Hyperparathyroidism 4 (HRPT4) [MIM:617343]
O75604	UBP2_HUMAN	174	R	Q	Polymorphism	-
O75604	UBP2_HUMAN	383	N	S	Polymorphism	-
O75607	NPM3_HUMAN	80	N	I	Polymorphism	-
O75607	NPM3_HUMAN	16	S	N	Polymorphism	-
O75608	LYPA1_HUMAN	153	P	S	Polymorphism	-
O75610	LFTY1_HUMAN	322	D	A	Polymorphism	-
O75610	LFTY1_HUMAN	142	R	Q	Polymorphism	-
O75610	LFTY1_HUMAN	57	V	M	Polymorphism	-
O75610	LFTY1_HUMAN	92	L	S	Polymorphism	-
O75616	ERAL1_HUMAN	236	N	I	Disease	Perrault syndrome 6 (PRLTS6) [MIM:617565]
O75626	PRDM1_HUMAN	203	D	E	Polymorphism	-
O75626	PRDM1_HUMAN	74	G	S	Polymorphism	-
O75628	REM1_HUMAN	59	P	A	Polymorphism	-
O75628	REM1_HUMAN	45	R	W	Polymorphism	-
O75628	REM1_HUMAN	28	H	R	Polymorphism	-
O75631	UPK3A_HUMAN	154	A	P	Polymorphism	-
O75631	UPK3A_HUMAN	273	P	L	Unclassified	-
O75631	UPK3A_HUMAN	202	G	D	Unclassified	-
O75631	UPK3A_HUMAN	91	Q	L	Polymorphism	-
O75635	SPB7_HUMAN	266	R	Q	Polymorphism	-
O75638	CTAG2_HUMAN	89	E	Q	Polymorphism	-
O75638	CTAG2_HUMAN	6	R	Q	Polymorphism	-
O75638	CTAG2_HUMAN	99	P	A	Polymorphism	-
O75643	U520_HUMAN	1087	S	L	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75643	U520_HUMAN	542	A	V	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75643	U520_HUMAN	1736	F	L	Unclassified	A colorectal cancer sample
O75643	U520_HUMAN	681	R	C	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75643	U520_HUMAN	698	I	V	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75643	U520_HUMAN	502	C	R	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75643	U520_HUMAN	681	R	H	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75643	U520_HUMAN	1090	R	L	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75643	U520_HUMAN	683	V	L	Unclassified	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75643	U520_HUMAN	1995	A	T	Polymorphism	-
O75643	U520_HUMAN	885	Q	E	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75643	U520_HUMAN	682	P	S	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75643	U520_HUMAN	689	Y	C	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75643	U520_HUMAN	1779	R	H	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
O75648	MTU1_HUMAN	77	Y	H	Disease	Liver failure, infantile, transient (LFIT) [MIM:613070]
O75648	MTU1_HUMAN	272	G	D	Disease	Liver failure, infantile, transient (LFIT) [MIM:613070]
O75648	MTU1_HUMAN	398	R	C	Polymorphism	-
O75648	MTU1_HUMAN	25	R	S	Polymorphism	-
O75648	MTU1_HUMAN	148	E	K	Polymorphism	-
O75648	MTU1_HUMAN	279	V	M	Polymorphism	-
O75648	MTU1_HUMAN	14	G	S	Polymorphism	-
O75648	MTU1_HUMAN	10	A	S	Polymorphism	-
O75665	OFD1_HUMAN	307	V	D	Unclassified	Joubert syndrome 10 (JBTS10) [MIM:300804]
O75665	OFD1_HUMAN	74	S	F	Disease	Orofaciodigital syndrome 1 (OFD1) [MIM:311200]
O75665	OFD1_HUMAN	141	M	R	Disease	Orofaciodigital syndrome 1 (OFD1) [MIM:311200]
O75665	OFD1_HUMAN	79	A	T	Disease	Orofaciodigital syndrome 1 (OFD1) [MIM:311200]
O75665	OFD1_HUMAN	138	G	S	Disease	Orofaciodigital syndrome 1 (OFD1) [MIM:311200]
O75665	OFD1_HUMAN	435	S	R	Disease	Orofaciodigital syndrome 1 (OFD1) [MIM:311200]
O75674	TM1L1_HUMAN	108	R	S	Polymorphism	-
O75676	KS6A4_HUMAN	236	S	L	Unclassified	A breast infiltrating ductal carcinoma sample
O75676	KS6A4_HUMAN	758	S	A	Polymorphism	-
O75677	RFPL1_HUMAN	127	M	T	Polymorphism	-
O75677	RFPL1_HUMAN	94	W	R	Polymorphism	-
O75678	RFPL2_HUMAN	341	R	C	Polymorphism	-
O75678	RFPL2_HUMAN	324	S	G	Polymorphism	-
O75678	RFPL2_HUMAN	215	Q	H	Polymorphism	-
O75678	RFPL2_HUMAN	348	V	I	Polymorphism	-
O75678	RFPL2_HUMAN	119	A	T	Polymorphism	-
O75678	RFPL2_HUMAN	141	C	Y	Polymorphism	-
O75678	RFPL2_HUMAN	290	T	S	Polymorphism	-
O75679	RFPL3_HUMAN	83	M	T	Polymorphism	-
O75679	RFPL3_HUMAN	126	D	N	Polymorphism	-
O75679	RFPL3_HUMAN	110	L	M	Polymorphism	-
O75679	RFPL3_HUMAN	181	Y	C	Polymorphism	-
O75683	SURF6_HUMAN	163	R	W	Polymorphism	-
O75683	SURF6_HUMAN	311	T	M	Polymorphism	-
O75683	SURF6_HUMAN	175	T	M	Polymorphism	-
O75683	SURF6_HUMAN	193	R	Q	Polymorphism	-
O75683	SURF6_HUMAN	201	N	H	Polymorphism	-
O75689	ADAP1_HUMAN	241	G	S	Polymorphism	-
O75690	KRA58_HUMAN	28	C	R	Polymorphism	-
O75691	UTP20_HUMAN	2612	E	Q	Polymorphism	-
O75691	UTP20_HUMAN	502	S	C	Polymorphism	-
O75691	UTP20_HUMAN	120	M	T	Polymorphism	-
O75691	UTP20_HUMAN	1882	L	Q	Polymorphism	-
O75691	UTP20_HUMAN	2452	I	F	Unclassified	A breast cancer sample
O75691	UTP20_HUMAN	1645	K	I	Unclassified	A breast cancer sample
O75694	NU155_HUMAN	391	R	H	Disease	Atrial fibrillation, familial, 15 (ATFB15) [MIM:615770]
O75695	XRP2_HUMAN	338	D	Y	Polymorphism	-
O75695	XRP2_HUMAN	86	C	Y	Disease	Retinitis pigmentosa 2 (RP2) [MIM:312600]
O75695	XRP2_HUMAN	188	L	P	Disease	Retinitis pigmentosa 2 (RP2) [MIM:312600]
O75695	XRP2_HUMAN	253	L	R	Disease	Retinitis pigmentosa 2 (RP2) [MIM:312600]
O75695	XRP2_HUMAN	118	R	H	Disease	Retinitis pigmentosa 2 (RP2) [MIM:312600]
O75695	XRP2_HUMAN	108	C	Y	Disease	Retinitis pigmentosa 2 (RP2) [MIM:312600]
O75695	XRP2_HUMAN	108	C	G	Disease	Retinitis pigmentosa 2 (RP2) [MIM:312600]
O75695	XRP2_HUMAN	118	R	C	Disease	Retinitis pigmentosa 2 (RP2) [MIM:312600]
O75695	XRP2_HUMAN	138	E	G	Disease	Retinitis pigmentosa 2 (RP2) [MIM:312600]
O75695	XRP2_HUMAN	118	R	L	Disease	Retinitis pigmentosa 2 (RP2) [MIM:312600]
O75695	XRP2_HUMAN	144	K	R	Polymorphism	-
O75695	XRP2_HUMAN	67	C	Y	Disease	Retinitis pigmentosa 2 (RP2) [MIM:312600]
O75695	XRP2_HUMAN	95	P	L	Unclassified	Retinitis pigmentosa 2 (RP2) [MIM:312600]
O75695	XRP2_HUMAN	282	R	W	Polymorphism	-
O75711	SCRG1_HUMAN	42	P	L	Polymorphism	-
O75712	CXB3_HUMAN	141	I	V	Disease	Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644]
O75712	CXB3_HUMAN	200	V	I	Polymorphism	-
O75712	CXB3_HUMAN	32	R	W	Polymorphism	-
O75712	CXB3_HUMAN	183	E	K	Unclassified	Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644]
O75712	CXB3_HUMAN	12	G	R	Disease	Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200]
O75712	CXB3_HUMAN	137	F	L	Disease	Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200]
O75712	CXB3_HUMAN	86	C	S	Disease	Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200]
O75712	CXB3_HUMAN	12	G	D	Disease	Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200]
O75712	CXB3_HUMAN	42	R	P	Disease	Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200]
O75715	GPX5_HUMAN	85	L	V	Polymorphism	-
O75715	GPX5_HUMAN	85	L	P	Polymorphism	-
O75716	STK16_HUMAN	41	H	R	Polymorphism	-
O75716	STK16_HUMAN	266	R	W	Polymorphism	-
O75716	STK16_HUMAN	277	P	L	Polymorphism	-
O75716	STK16_HUMAN	77	I	V	Polymorphism	-
O75716	STK16_HUMAN	55	E	K	Polymorphism	-
O75717	WDHD1_HUMAN	338	F	L	Polymorphism	-
O75717	WDHD1_HUMAN	1102	E	K	Polymorphism	-
O75717	WDHD1_HUMAN	411	L	P	Polymorphism	-
O75718	CRTAP_HUMAN	13	A	E	Disease	Osteogenesis imperfecta 7 (OI7) [MIM:610682]
O75718	CRTAP_HUMAN	157	K	E	Disease	Osteogenesis imperfecta 7 (OI7) [MIM:610682]
O75718	CRTAP_HUMAN	261	L	V	Polymorphism	-
O75718	CRTAP_HUMAN	67	L	P	Disease	Osteogenesis imperfecta 7 (OI7) [MIM:610682]
O75718	CRTAP_HUMAN	137	E	D	Polymorphism	-
O75746	CMC1_HUMAN	353	R	Q	Disease	Epileptic encephalopathy, early infantile, 39 (EIEE39) [MIM:612949]
O75746	CMC1_HUMAN	473	R	Q	Polymorphism	-
O75746	CMC1_HUMAN	590	Q	R	Disease	Epileptic encephalopathy, early infantile, 39 (EIEE39) [MIM:612949]
O75747	P3C2G_HUMAN	1442	N	T	Polymorphism	-
O75747	P3C2G_HUMAN	911	P	L	Polymorphism	-
O75747	P3C2G_HUMAN	261	A	E	Polymorphism	-
O75747	P3C2G_HUMAN	146	P	L	Polymorphism	-
O75747	P3C2G_HUMAN	1290	V	G	Polymorphism	-
O75751	S22A3_HUMAN	116	A	S	Polymorphism	-
O75751	S22A3_HUMAN	44	T	M	Polymorphism	-
O75752	B3GL1_HUMAN	271	G	R	Polymorphism	-
O75752	B3GL1_HUMAN	266	E	A	Polymorphism	-
O75752	B3GL1_HUMAN	126	D	N	Polymorphism	-
O75762	TRPA1_HUMAN	179	E	K	Polymorphism	-
O75762	TRPA1_HUMAN	1018	H	R	Polymorphism	-
O75762	TRPA1_HUMAN	3	R	C	Polymorphism	-
O75762	TRPA1_HUMAN	58	R	T	Polymorphism	-
O75762	TRPA1_HUMAN	855	N	S	Disease	Episodic pain syndrome, familial, 1 (FEPS1) [MIM:615040]
O75762	TRPA1_HUMAN	186	K	N	Polymorphism	-
O75771	RA51D_HUMAN	225	A	T	Polymorphism	-
O75771	RA51D_HUMAN	232	R	Q	Polymorphism	-
O75771	RA51D_HUMAN	9	C	S	Polymorphism	-
O75771	RA51D_HUMAN	233	E	G	Polymorphism	-
O75771	RA51D_HUMAN	165	R	Q	Polymorphism	-
O75771	RA51D_HUMAN	24	R	S	Polymorphism	-
O75781	PALM_HUMAN	107	T	A	Polymorphism	-
O75787	RENR_HUMAN	90	P	A	Polymorphism	-
O75787	RENR_HUMAN	290	A	P	Polymorphism	-
O75791	GRAP2_HUMAN	319	L	F	Polymorphism	-
O75792	RNH2A_HUMAN	258	A	G	Polymorphism	-
O75792	RNH2A_HUMAN	260	E	G	Polymorphism	-
O75792	RNH2A_HUMAN	230	F	L	Disease	Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333]
O75792	RNH2A_HUMAN	240	T	M	Disease	Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333]
O75792	RNH2A_HUMAN	235	R	Q	Disease	Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333]
O75792	RNH2A_HUMAN	186	R	W	Disease	Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333]
O75792	RNH2A_HUMAN	291	R	H	Disease	Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333]
O75792	RNH2A_HUMAN	99	N	D	Polymorphism	-
O75792	RNH2A_HUMAN	202	L	S	Polymorphism	-
O75792	RNH2A_HUMAN	205	D	E	Polymorphism	-
O75792	RNH2A_HUMAN	108	R	W	Disease	Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333]
O75792	RNH2A_HUMAN	37	G	S	Disease	Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333]
O75800	ZMY10_HUMAN	39	L	P	Disease	Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444]
O75800	ZMY10_HUMAN	407	R	Q	Unclassified	Non-small cell lung cancer cell lines
O75800	ZMY10_HUMAN	266	L	P	Disease	Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444]
O75800	ZMY10_HUMAN	16	V	G	Disease	Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444]
O75800	ZMY10_HUMAN	379	Y	C	Disease	Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444]
O75800	ZMY10_HUMAN	29	S	P	Disease	Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444]
O75800	ZMY10_HUMAN	369	R	W	Polymorphism	-
O75807	PR15A_HUMAN	251	R	P	Polymorphism	-
O75807	PR15A_HUMAN	277	K	E	Polymorphism	-
O75807	PR15A_HUMAN	597	T	A	Polymorphism	-
O75807	PR15A_HUMAN	381	A	V	Polymorphism	-
O75807	PR15A_HUMAN	476	R	S	Polymorphism	-
O75807	PR15A_HUMAN	594	R	C	Polymorphism	-
O75807	PR15A_HUMAN	316	A	P	Polymorphism	-
O75807	PR15A_HUMAN	199	V	A	Polymorphism	-
O75807	PR15A_HUMAN	312	G	S	Polymorphism	-
O75807	PR15A_HUMAN	32	A	T	Polymorphism	-
O75807	PR15A_HUMAN	31	R	H	Polymorphism	-
O75815	BCAR3_HUMAN	593	Q	H	Polymorphism	-
O75815	BCAR3_HUMAN	464	E	G	Polymorphism	-
O75818	RPP40_HUMAN	314	V	I	Polymorphism	-
O75820	ZN189_HUMAN	221	R	K	Polymorphism	-
O75822	EIF3J_HUMAN	141	A	T	Polymorphism	-
O75828	CBR3_HUMAN	244	V	M	Polymorphism	-
O75828	CBR3_HUMAN	93	V	I	Polymorphism	-
O75828	CBR3_HUMAN	84	L	V	Polymorphism	-
O75828	CBR3_HUMAN	235	M	L	Polymorphism	-
O75828	CBR3_HUMAN	131	P	S	Polymorphism	-
O75828	CBR3_HUMAN	4	C	Y	Polymorphism	-
O75829	CNMD_HUMAN	116	F	L	Polymorphism	-
O75829	CNMD_HUMAN	175	V	I	Polymorphism	-
O75830	SPI2_HUMAN	148	E	G	Polymorphism	-
O75830	SPI2_HUMAN	6	L	V	Polymorphism	-
O75838	CIB2_HUMAN	64	E	D	Disease	Usher syndrome 1J (USH1J) [MIM:614869]
O75838	CIB2_HUMAN	91	F	S	Disease	Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]
O75838	CIB2_HUMAN	75	V	M	Unclassified	-
O75838	CIB2_HUMAN	66	R	W	Unclassified	Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]
O75838	CIB2_HUMAN	123	I	T	Disease	Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]
O75838	CIB2_HUMAN	99	C	W	Disease	Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]
O75838	CIB2_HUMAN	186	R	W	Disease	Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]
O75840	KLF7_HUMAN	139	P	S	Unclassified	-
O75840	KLF7_HUMAN	264	D	N	Unclassified	-
O75840	KLF7_HUMAN	137	T	M	Unclassified	-
O75841	UPK1B_HUMAN	113	Q	R	Polymorphism	-
O75843	AP1G2_HUMAN	377	S	F	Polymorphism	-
O75844	FACE1_HUMAN	265	N	S	Disease	Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]
O75844	FACE1_HUMAN	248	P	L	Disease	Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]
O75844	FACE1_HUMAN	137	T	A	Polymorphism	-
O75844	FACE1_HUMAN	340	W	R	Disease	Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]
O75845	SC5D_HUMAN	211	G	D	Disease	Lathosterolosis (LATHST) [MIM:607330]
O75845	SC5D_HUMAN	46	Y	S	Disease	Lathosterolosis (LATHST) [MIM:607330]
O75845	SC5D_HUMAN	29	R	Q	Disease	Lathosterolosis (LATHST) [MIM:607330]
O75871	CEAM4_HUMAN	29	H	D	Polymorphism	-
O75871	CEAM4_HUMAN	69	K	R	Polymorphism	-
O75874	IDHC_HUMAN	178	V	I	Polymorphism	-
O75874	IDHC_HUMAN	132	R	G	Unclassified	A glioma sample
O75874	IDHC_HUMAN	132	R	C	Unclassified	Glioma samples
O75874	IDHC_HUMAN	132	R	H	Unclassified	A glioma sample
O75874	IDHC_HUMAN	132	R	L	Unclassified	A glioma sample
O75874	IDHC_HUMAN	132	R	C	Unclassified	Colorectal cancer
O75874	IDHC_HUMAN	132	R	S	Unclassified	A glioma sample
O75879	GATB_HUMAN	30	A	D	Polymorphism	-
O75880	SCO1_HUMAN	58	P	S	Polymorphism	-
O75880	SCO1_HUMAN	174	P	L	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
O75881	CP7B1_HUMAN	417	R	C	Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	19	L	P	Polymorphism	-
O75881	CP7B1_HUMAN	216	F	S	Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	324	R	H	Polymorphism	-
O75881	CP7B1_HUMAN	417	R	H	Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	147	G	D	Unclassified	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	87	G	V	Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	57	G	R	Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	285	H	L	Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	363	S	F	Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	297	T	A	Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	106	H	Y	Polymorphism	-
O75881	CP7B1_HUMAN	198	G	R	Unclassified	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	443	G	A	Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	470	F	I	Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	486	R	C	Disease	Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]
O75881	CP7B1_HUMAN	287	L	S	Polymorphism	-
O75882	ATRN_HUMAN	303	D	A	Polymorphism	-
O75882	ATRN_HUMAN	426	I	T	Polymorphism	-
O75882	ATRN_HUMAN	1226	V	I	Polymorphism	-
O75882	ATRN_HUMAN	1152	R	K	Polymorphism	-
O75888	TNF13_HUMAN	96	N	S	Polymorphism	-
O75888	TNF13_HUMAN	67	G	R	Polymorphism	-
O75891	AL1L1_HUMAN	254	L	P	Polymorphism	-
O75891	AL1L1_HUMAN	511	A	V	Unclassified	A colorectal cancer sample
O75891	AL1L1_HUMAN	429	E	A	Polymorphism	-
O75891	AL1L1_HUMAN	448	S	N	Polymorphism	-
O75891	AL1L1_HUMAN	812	I	V	Polymorphism	-
O75891	AL1L1_HUMAN	793	D	G	Polymorphism	-
O75891	AL1L1_HUMAN	330	V	F	Polymorphism	-
O75891	AL1L1_HUMAN	436	A	T	Polymorphism	-
O75891	AL1L1_HUMAN	481	S	G	Polymorphism	-
O75891	AL1L1_HUMAN	803	E	K	Polymorphism	-
O75897	ST1C4_HUMAN	5	D	E	Polymorphism	-
O75897	ST1C4_HUMAN	68	I	M	Polymorphism	-
O75899	GABR2_HUMAN	693	G	W	Unclassified	Epileptic encephalopathy, early infantile, 59 (EIEE59) [MIM:617904]
O75899	GABR2_HUMAN	628	Y	F	Polymorphism	-
O75899	GABR2_HUMAN	707	A	T	Disease	Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) [MIM:617903]
O75899	GABR2_HUMAN	695	S	I	Disease	Epileptic encephalopathy, early infantile, 59 (EIEE59) [MIM:617904]
O75899	GABR2_HUMAN	163	L	P	Polymorphism	-
O75899	GABR2_HUMAN	869	T	A	Polymorphism	-
O75899	GABR2_HUMAN	567	A	T	Disease	Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) [MIM:617903]
O75899	GABR2_HUMAN	705	I	N	Disease	Epileptic encephalopathy, early infantile, 59 (EIEE59) [MIM:617904]
O75900	MMP23_HUMAN	91	F	L	Polymorphism	-
O75901	RASF9_HUMAN	285	A	T	Polymorphism	-
O75908	SOAT2_HUMAN	254	T	I	Polymorphism	-
O75908	SOAT2_HUMAN	14	E	G	Polymorphism	-
O75909	CCNK_HUMAN	111	K	E	Disease	Intellectual developmental disorder with hypertelorism and distinctive facies (IDDHDF) [MIM:618147]
O75911	DHRS3_HUMAN	2	V	A	Polymorphism	-
O75912	DGKI_HUMAN	153	L	F	Polymorphism	-
O75914	PAK3_HUMAN	67	R	C	Disease	Mental retardation, X-linked 30 (MRX30) [MIM:300558]
O75914	PAK3_HUMAN	380	A	E	Disease	Mental retardation, X-linked 30 (MRX30) [MIM:300558]
O75914	PAK3_HUMAN	440	T	S	Unclassified	A colorectal adenocarcinoma sample
O75916	RGS9_HUMAN	299	W	R	Disease	Prolonged electroretinal response suppression (PERRS) [MIM:608415]
O75916	RGS9_HUMAN	258	S	L	Polymorphism	-
O75923	DYSF_HUMAN	234	G	E	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	52	W	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	84	A	V	Polymorphism	-
O75923	DYSF_HUMAN	67	V	D	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	299	G	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	340	S	R	Polymorphism	-
O75923	DYSF_HUMAN	1325	I	M	Unclassified	A breast cancer sample
O75923	DYSF_HUMAN	389	E	Q	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	299	G	W	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	335	G	A	Polymorphism	-
O75923	DYSF_HUMAN	555	R	W	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1029	P	L	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	284	I	T	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1041	R	C	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	930	W	C	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1242	R	H	Polymorphism	-
O75923	DYSF_HUMAN	155	G	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	170	A	E	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	819	R	Q	Polymorphism	-
O75923	DYSF_HUMAN	426	G	R	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	67	V	D	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1662	T	R	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	834	I	V	Polymorphism	-
O75923	DYSF_HUMAN	390	D	N	Polymorphism	-
O75923	DYSF_HUMAN	1543	G	D	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	791	P	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1228	L	P	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1325	I	V	Polymorphism	-
O75923	DYSF_HUMAN	189	L	V	Polymorphism	-
O75923	DYSF_HUMAN	1922	L	P	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	299	G	E	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1298	I	V	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	170	A	E	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	374	V	L	Unclassified	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1837	D	N	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1526	K	T	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1768	R	W	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1208	I	M	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	618	G	R	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	959	R	W	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1298	I	V	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1072	A	P	Polymorphism	-
O75923	DYSF_HUMAN	1748	E	V	Unclassified	-
O75923	DYSF_HUMAN	618	G	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1022	R	Q	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	621	G	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	999	W	C	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1096	R	H	Polymorphism	-
O75923	DYSF_HUMAN	1361	C	R	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	731	P	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1581	R	H	Polymorphism	-
O75923	DYSF_HUMAN	1276	L	V	Unclassified	-
O75923	DYSF_HUMAN	266	L	P	Unclassified	-
O75923	DYSF_HUMAN	1842	G	D	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	2042	R	C	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1038	R	Q	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1693	R	W	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	625	D	Y	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1341	L	P	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1678	C	S	Polymorphism	-
O75923	DYSF_HUMAN	1351	N	S	Polymorphism	-
O75923	DYSF_HUMAN	426	G	V	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1679	G	E	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	253	R	W	Polymorphism	-
O75923	DYSF_HUMAN	791	P	R	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1046	R	H	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1734	E	G	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	456	C	W	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1349	L	V	Unclassified	A breast cancer sample
O75923	DYSF_HUMAN	1335	E	K	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1942	C	G	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	2000	R	Q	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1505	Y	C	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1857	H	R	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	2042	R	C	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1335	E	K	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1693	R	Q	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	519	G	R	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	555	R	W	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	959	R	W	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	2068	P	L	Disease	Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]
O75923	DYSF_HUMAN	1970	P	S	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]
O75923	DYSF_HUMAN	1967	G	S	Polymorphism	-
O75923	DYSF_HUMAN	1331	R	L	Polymorphism	-
O75928	PIAS2_HUMAN	207	V	A	Polymorphism	-
O75934	SPF27_HUMAN	139	N	S	Unclassified	A colorectal cancer sample
O75943	RAD17_HUMAN	32	V	I	Polymorphism	-
O75943	RAD17_HUMAN	557	L	R	Polymorphism	-
O75943	RAD17_HUMAN	535	K	E	Polymorphism	-
O75943	RAD17_HUMAN	487	R	L	Polymorphism	-
O75949	F155B_HUMAN	172	L	P	Polymorphism	-
O75951	LYZL6_HUMAN	139	F	S	Polymorphism	-
O75952	CABYR_HUMAN	74	T	M	Polymorphism	-
O75952	CABYR_HUMAN	186	I	V	Polymorphism	-
O75952	CABYR_HUMAN	448	K	R	Polymorphism	-
O75952	CABYR_HUMAN	490	S	A	Polymorphism	-
O75955	FLOT1_HUMAN	52	S	N	Polymorphism	-
O75962	TRIO_HUMAN	1238	Y	H	Unclassified	Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]
O75962	TRIO_HUMAN	1461	P	T	Disease	Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]
O75962	TRIO_HUMAN	1080	N	I	Unclassified	Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]
O75962	TRIO_HUMAN	1428	R	Q	Disease	Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]
O75962	TRIO_HUMAN	1922	A	T	Unclassified	Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]
O75962	TRIO_HUMAN	2247	E	D	Unclassified	Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]
O75962	TRIO_HUMAN	924	R	S	Unclassified	Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]
O75962	TRIO_HUMAN	2563	T	M	Unclassified	-
O75962	TRIO_HUMAN	1690	H	R	Polymorphism	-
O75962	TRIO_HUMAN	1939	S	N	Unclassified	Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]
O75962	TRIO_HUMAN	2707	R	Q	Unclassified	Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]
O75962	TRIO_HUMAN	348	D	E	Polymorphism	-
O75962	TRIO_HUMAN	291	S	T	Polymorphism	-
O75962	TRIO_HUMAN	1978	V	M	Unclassified	A metastatic melanoma sample
O75962	TRIO_HUMAN	2242	T	M	Polymorphism	-
O75962	TRIO_HUMAN	2201	L	V	Unclassified	Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]
O75962	TRIO_HUMAN	1613	A	T	Polymorphism	-
O75962	TRIO_HUMAN	1368	D	V	Unclassified	-
O75962	TRIO_HUMAN	1644	T	M	Polymorphism	-
O75969	AKAP3_HUMAN	661	I	T	Polymorphism	-
O75969	AKAP3_HUMAN	500	I	T	Polymorphism	-
O75969	AKAP3_HUMAN	700	S	P	Polymorphism	-
O75969	AKAP3_HUMAN	725	S	L	Polymorphism	-
O75969	AKAP3_HUMAN	831	R	C	Unclassified	A colorectal cancer sample
O75969	AKAP3_HUMAN	118	G	E	Polymorphism	-
O75969	AKAP3_HUMAN	464	T	S	Polymorphism	-
O75969	AKAP3_HUMAN	525	E	K	Polymorphism	-
O75969	AKAP3_HUMAN	700	S	F	Polymorphism	-
O75970	MPDZ_HUMAN	702	E	K	Polymorphism	-
O75970	MPDZ_HUMAN	1663	G	R	Polymorphism	-
O75970	MPDZ_HUMAN	351	L	F	Polymorphism	-
O75970	MPDZ_HUMAN	1760	A	T	Unclassified	Hydrocephalus, congenital, 2, with or without brain or eye anomalies (HYC2) [MIM:615219]
O75970	MPDZ_HUMAN	702	E	V	Polymorphism	-
O75970	MPDZ_HUMAN	1604	T	A	Polymorphism	-
O75970	MPDZ_HUMAN	92	S	L	Polymorphism	-
O75976	CBPD_HUMAN	454	E	G	Polymorphism	-
O75976	CBPD_HUMAN	36	K	E	Polymorphism	-
O75976	CBPD_HUMAN	899	T	I	Polymorphism	-
O75976	CBPD_HUMAN	505	H	N	Polymorphism	-
O76001	OR2J3_HUMAN	226	R	Q	Polymorphism	-
O76001	OR2J3_HUMAN	228	V	I	Polymorphism	-
O76001	OR2J3_HUMAN	113	T	A	Polymorphism	-
O76001	OR2J3_HUMAN	261	I	M	Polymorphism	-
O76002	OR2J2_HUMAN	146	A	V	Polymorphism	-
O76002	OR2J2_HUMAN	74	H	Y	Polymorphism	-
O76002	OR2J2_HUMAN	218	A	T	Polymorphism	-
O76002	OR2J2_HUMAN	111	A	T	Polymorphism	-
O76003	GLRX3_HUMAN	21	Q	H	Polymorphism	-
O76003	GLRX3_HUMAN	123	P	S	Polymorphism	-
O76009	KT33A_HUMAN	270	A	V	Polymorphism	-
O76011	KRT34_HUMAN	280	I	T	Polymorphism	-
O76011	KRT34_HUMAN	348	H	R	Polymorphism	-
O76013	KRT36_HUMAN	277	R	C	Polymorphism	-
O76013	KRT36_HUMAN	119	A	V	Polymorphism	-
O76013	KRT36_HUMAN	126	Q	R	Polymorphism	-
O76013	KRT36_HUMAN	179	R	Q	Polymorphism	-
O76013	KRT36_HUMAN	357	N	T	Polymorphism	-
O76013	KRT36_HUMAN	315	T	M	Polymorphism	-
O76014	KRT37_HUMAN	306	A	D	Polymorphism	-
O76014	KRT37_HUMAN	13	G	C	Polymorphism	-
O76014	KRT37_HUMAN	422	T	M	Polymorphism	-
O76014	KRT37_HUMAN	39	N	S	Polymorphism	-
O76014	KRT37_HUMAN	73	S	C	Polymorphism	-
O76014	KRT37_HUMAN	217	A	V	Polymorphism	-
O76014	KRT37_HUMAN	434	P	S	Polymorphism	-
O76014	KRT37_HUMAN	421	S	F	Polymorphism	-
O76014	KRT37_HUMAN	72	T	A	Polymorphism	-
O76015	KRT38_HUMAN	423	S	P	Polymorphism	-
O76024	WFS1_HUMAN	737	E	K	Polymorphism	-
O76024	WFS1_HUMAN	674	G	R	Polymorphism	-
O76024	WFS1_HUMAN	576	G	S	Polymorphism	-
O76024	WFS1_HUMAN	443	S	I	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	720	I	V	Polymorphism	-
O76024	WFS1_HUMAN	504	P	L	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	818	R	C	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	611	R	H	Polymorphism	-
O76024	WFS1_HUMAN	126	A	T	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	193	K	Q	Polymorphism	-
O76024	WFS1_HUMAN	326	A	V	Polymorphism	-
O76024	WFS1_HUMAN	859	R	Q	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	58	A	V	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	885	P	L	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	110	Y	N	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	684	A	V	Disease	Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]
O76024	WFS1_HUMAN	685	R	P	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	456	R	H	Polymorphism	-
O76024	WFS1_HUMAN	653	R	C	Unclassified	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	437	G	R	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	133	A	T	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	559	A	T	Polymorphism	-
O76024	WFS1_HUMAN	669	Y	H	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	457	R	S	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	634	K	T	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	669	Y	C	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	871	V	M	Polymorphism	-
O76024	WFS1_HUMAN	169	E	K	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	736	G	S	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	716	A	T	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	780	G	R	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	703	R	H	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	699	T	M	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	708	R	C	Polymorphism	-
O76024	WFS1_HUMAN	629	R	W	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	171	D	N	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	779	V	M	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	724	P	L	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	780	G	S	Disease	Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]
O76024	WFS1_HUMAN	690	C	R	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	802	I	V	Polymorphism	-
O76024	WFS1_HUMAN	558	R	C	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	695	G	V	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	797	D	Y	Disease	Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]
O76024	WFS1_HUMAN	292	P	S	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	333	V	I	Polymorphism	-
O76024	WFS1_HUMAN	864	E	K	Disease	Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]
O76024	WFS1_HUMAN	696	H	Y	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	16	P	L	Polymorphism	-
O76024	WFS1_HUMAN	602	A	V	Polymorphism	-
O76024	WFS1_HUMAN	700	W	C	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	107	G	R	Polymorphism	-
O76024	WFS1_HUMAN	831	G	D	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	829	L	P	Disease	Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]
O76024	WFS1_HUMAN	836	K	N	Disease	Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]
O76024	WFS1_HUMAN	296	I	S	Disease	Wolfram syndrome 1 (WFS1) [MIM:222300]
O76024	WFS1_HUMAN	462	E	G	Disease	Cataract 41 (CTRCT41) [MIM:116400]
O76027	ANXA9_HUMAN	166	D	G	Polymorphism	-
O76027	ANXA9_HUMAN	232	R	Q	Polymorphism	-
O76027	ANXA9_HUMAN	119	A	T	Polymorphism	-
O76027	ANXA9_HUMAN	28	A	T	Polymorphism	-
O76027	ANXA9_HUMAN	114	T	A	Polymorphism	-
O76027	ANXA9_HUMAN	225	R	Q	Polymorphism	-
O76031	CLPX_HUMAN	488	I	T	Polymorphism	-
O76031	CLPX_HUMAN	298	G	D	Disease	Protoporphyria, erythropoietic, 2 (EPP2) [MIM:618015]
O76036	NCTR1_HUMAN	82	K	Q	Polymorphism	-
O76036	NCTR1_HUMAN	87	D	Y	Unclassified	A colorectal cancer sample
O76038	SEGN_HUMAN	216	A	V	Polymorphism	-
O76039	CDKL5_HUMAN	72	I	N	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	368	N	H	Unclassified	A colorectal cancer sample
O76039	CDKL5_HUMAN	40	A	V	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	180	P	L	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	793	V	A	Unclassified	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	1023	E	G	Polymorphism	-
O76039	CDKL5_HUMAN	72	I	T	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	923	R	C	Polymorphism	-
O76039	CDKL5_HUMAN	207	G	E	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	175	R	S	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	178	R	P	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	858	R	C	Unclassified	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	999	V	M	Polymorphism	-
O76039	CDKL5_HUMAN	152	C	F	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	574	P	Q	Unclassified	An ovarian serous carcinoma sample
O76039	CDKL5_HUMAN	994	G	R	Unclassified	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	647	P	L	Disease	-
O76039	CDKL5_HUMAN	581	H	Y	Unclassified	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	288	T	I	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	291	C	Y	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	444	R	C	Polymorphism	-
O76039	CDKL5_HUMAN	374	A	T	Unclassified	A metastatic melanoma sample
O76039	CDKL5_HUMAN	734	T	A	Polymorphism	-
O76039	CDKL5_HUMAN	178	R	Q	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	399	N	T	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	718	V	M	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	145	H	Y	Unclassified	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	182	L	P	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	178	R	W	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	220	L	P	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	127	H	R	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	196	S	L	Disease	Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]
O76039	CDKL5_HUMAN	791	Q	P	Polymorphism	-
O76041	NEBL_HUMAN	351	M	V	Polymorphism	-
O76041	NEBL_HUMAN	187	Q	H	Polymorphism	-
O76041	NEBL_HUMAN	728	T	A	Polymorphism	-
O76041	NEBL_HUMAN	219	A	D	Polymorphism	-
O76041	NEBL_HUMAN	378	D	H	Polymorphism	-
O76041	NEBL_HUMAN	654	N	K	Polymorphism	-
O76054	S14L2_HUMAN	11	R	K	Polymorphism	-
O76062	ERG24_HUMAN	299	T	I	Polymorphism	-
O76062	ERG24_HUMAN	119	A	V	Polymorphism	-
O76064	RNF8_HUMAN	473	I	V	Polymorphism	-
O76064	RNF8_HUMAN	162	A	T	Polymorphism	-
O76070	SYUG_HUMAN	110	E	V	Polymorphism	-
O76074	PDE5A_HUMAN	93	A	V	Polymorphism	-
O76074	PDE5A_HUMAN	181	S	A	Polymorphism	-
O76075	DFFB_HUMAN	196	R	K	Polymorphism	-
O76075	DFFB_HUMAN	277	K	R	Polymorphism	-
O76076	WISP2_HUMAN	59	R	Q	Polymorphism	-
O76082	S22A5_HUMAN	44	A	V	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	50	C	Y	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	15	G	W	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	234	G	R	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	549	P	S	Polymorphism	-
O76082	S22A5_HUMAN	455	P	R	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	476	L	R	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	530	M	V	Polymorphism	-
O76082	S22A5_HUMAN	468	T	R	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	93	S	W	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	471	R	C	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	283	W	C	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	358	Y	N	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	240	A	T	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	446	V	F	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	282	R	Q	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	412	S	G	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	280	S	F	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	264	T	R	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	211	Y	C	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	462	G	V	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	144	L	F	Polymorphism	-
O76082	S22A5_HUMAN	471	R	H	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	301	A	D	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	351	W	R	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	232	T	M	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	481	V	F	Polymorphism	-
O76082	S22A5_HUMAN	399	R	Q	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	448	V	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	230	F	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	169	R	P	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	257	R	W	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	227	R	H	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	312	I	V	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	142	A	S	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	443	F	V	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	507	L	S	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	169	R	Q	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	96	G	A	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	283	W	R	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	355	S	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	362	S	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	115	D	G	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	131	E	D	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	467	S	C	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	449	Y	D	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	508	F	L	Polymorphism	-
O76082	S22A5_HUMAN	12	G	S	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	225	S	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	488	R	H	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	20	L	H	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	481	V	I	Polymorphism	-
O76082	S22A5_HUMAN	26	S	N	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	214	A	V	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	169	R	W	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	32	N	S	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	179	M	L	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	122	D	Y	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	75	R	P	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	478	P	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	205	M	R	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	470	S	F	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	363	L	P	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	16	P	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	28	S	I	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	452	E	K	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	186	L	P	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	95	L	V	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	151	V	M	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	66	T	P	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	46	P	S	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	17	F	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	231	S	F	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	471	R	P	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	398	P	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	143	P	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	19	R	P	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	348	I	T	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	254	R	Q	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	317	E	K	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	177	M	V	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	488	R	C	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	46	P	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	123	V	G	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	242	G	V	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	83	R	L	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	210	N	S	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	447	Y	C	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	442	A	I	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	247	P	R	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	219	T	K	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	439	V	G	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	269	L	P	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	399	R	W	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	175	V	M	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	264	T	M	Unclassified	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76082	S22A5_HUMAN	440	T	M	Disease	Systemic primary carnitine deficiency (CDSP) [MIM:212140]
O76090	BEST1_HUMAN	73	I	N	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	216	T	I	Polymorphism	-
O76090	BEST1_HUMAN	294	L	V	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	16	S	F	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	205	I	T	Disease	Retinitis pigmentosa 50 (RP50) [MIM:613194]
O76090	BEST1_HUMAN	27	S	R	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	301	D	N	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	307	T	A	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	13	R	H	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	308	N	S	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	312	D	N	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	105	R	C	Polymorphism	-
O76090	BEST1_HUMAN	241	T	N	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	92	R	H	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	195	A	V	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	298	F	S	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	92	R	C	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	302	D	V	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	224	L	P	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	299	G	E	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	317	V	M	Disease	Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]
O76090	BEST1_HUMAN	152	P	A	Disease	Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]
O76090	BEST1_HUMAN	135	G	S	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	302	D	G	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	310	I	T	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	140	L	R	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	222	G	V	Polymorphism	-
O76090	BEST1_HUMAN	140	L	V	Disease	Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]
O76090	BEST1_HUMAN	299	G	A	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	21	L	V	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	275	V	I	Polymorphism	-
O76090	BEST1_HUMAN	82	L	V	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	297	P	A	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	237	T	R	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	96	Q	H	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	67	L	V	Polymorphism	-
O76090	BEST1_HUMAN	202	R	W	Disease	Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]
O76090	BEST1_HUMAN	295	I	T	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	6	T	P	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	243	A	T	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	195	A	V	Disease	Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]
O76090	BEST1_HUMAN	24	W	C	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	276	F	L	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	25	R	W	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	300	E	K	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	100	L	R	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	92	R	S	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	58	Q	L	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	305	F	S	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	9	V	A	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	140	L	V	Disease	Retinitis pigmentosa 50 (RP50) [MIM:613194]
O76090	BEST1_HUMAN	302	D	H	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	201	I	T	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	325	M	T	Disease	Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]
O76090	BEST1_HUMAN	357	A	V	Polymorphism	-
O76090	BEST1_HUMAN	218	R	H	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	3	I	T	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	525	E	A	Polymorphism	-
O76090	BEST1_HUMAN	227	Y	C	Disease	Retinitis pigmentosa 50 (RP50) [MIM:613194]
O76090	BEST1_HUMAN	209	S	N	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	235	V	M	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	104	D	E	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	207	L	I	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	306	E	D	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	303	D	E	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	6	T	R	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	146	A	K	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	10	A	T	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	301	D	E	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	218	R	C	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	141	R	H	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	93	W	C	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	227	Y	N	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	218	R	Q	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	10	A	V	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	296	N	H	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	557	E	K	Polymorphism	-
O76090	BEST1_HUMAN	306	E	G	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	242	V	M	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	231	S	R	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	86	V	M	Disease	Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220]
O76090	BEST1_HUMAN	239	V	M	Disease	Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220]
O76090	BEST1_HUMAN	235	V	L	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	113	F	L	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	293	Q	K	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	297	P	S	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	25	R	Q	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	141	R	H	Disease	Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]
O76090	BEST1_HUMAN	228	D	N	Disease	Retinitis pigmentosa 50 (RP50) [MIM:613194]
O76090	BEST1_HUMAN	9	V	M	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	236	Y	C	Disease	Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220]
O76090	BEST1_HUMAN	99	N	K	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	104	D	H	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	133	N	K	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	243	A	V	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	17	F	C	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	119	E	Q	Polymorphism	-
O76090	BEST1_HUMAN	311	V	G	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	40	L	P	Unclassified	Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]
O76090	BEST1_HUMAN	218	R	S	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	224	L	M	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	312	D	N	Disease	Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]
O76090	BEST1_HUMAN	91	T	I	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	41	L	P	Disease	Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]
O76090	BEST1_HUMAN	221	C	W	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	26	G	R	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	89	V	A	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	29	Y	H	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	11	N	I	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	300	E	D	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	561	T	A	Polymorphism	-
O76090	BEST1_HUMAN	80	F	L	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	567	L	F	Unclassified	-
O76090	BEST1_HUMAN	30	K	R	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	41	L	P	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	101	P	T	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	296	N	S	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	47	R	H	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	85	Y	H	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	578	E	V	Polymorphism	-
O76090	BEST1_HUMAN	102	W	R	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76090	BEST1_HUMAN	307	T	I	Disease	Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]
O76094	SRP72_HUMAN	207	R	H	Disease	Bone marrow failure syndrome 1 (BMFS1) [MIM:614675]
O76095	JTB_HUMAN	16	L	F	Polymorphism	-
O76099	OR7C1_HUMAN	210	S	P	Polymorphism	-
O76099	OR7C1_HUMAN	171	E	K	Polymorphism	-
O76099	OR7C1_HUMAN	126	V	I	Polymorphism	-
O76099	OR7C1_HUMAN	99	S	G	Polymorphism	-
O76100	OR7AA_HUMAN	273	A	T	Polymorphism	-
O76100	OR7AA_HUMAN	225	I	L	Polymorphism	-
O76100	OR7AA_HUMAN	151	M	T	Polymorphism	-
O76100	OR7AA_HUMAN	183	Q	E	Polymorphism	-
O77932	DXO_HUMAN	261	H	Q	Polymorphism	-
O77932	DXO_HUMAN	63	D	E	Polymorphism	-
O77932	DXO_HUMAN	28	S	T	Polymorphism	-
O77932	DXO_HUMAN	332	A	V	Polymorphism	-
O94759	TRPM2_HUMAN	1368	I	M	Polymorphism	-
O94759	TRPM2_HUMAN	1249	N	S	Polymorphism	-
O94759	TRPM2_HUMAN	543	D	E	Polymorphism	-
O94759	TRPM2_HUMAN	1199	R	W	Polymorphism	-
O94759	TRPM2_HUMAN	385	V	M	Polymorphism	-
O94759	TRPM2_HUMAN	1201	S	G	Polymorphism	-
O94759	TRPM2_HUMAN	780	D	E	Polymorphism	-
O94759	TRPM2_HUMAN	1359	E	K	Polymorphism	-
O94759	TRPM2_HUMAN	1438	A	S	Polymorphism	-
O94759	TRPM2_HUMAN	1189	Q	R	Polymorphism	-
O94759	TRPM2_HUMAN	166	V	I	Polymorphism	-
O94759	TRPM2_HUMAN	1347	T	M	Polymorphism	-
O94759	TRPM2_HUMAN	52	N	K	Polymorphism	-
O94761	RECQ4_HUMAN	71	E	G	Polymorphism	-
O94761	RECQ4_HUMAN	799	V	M	Polymorphism	-
O94761	RECQ4_HUMAN	267	E	D	Polymorphism	-
O94761	RECQ4_HUMAN	1021	R	W	Disease	Baller-Gerold syndrome (BGS) [MIM:218600]
O94761	RECQ4_HUMAN	1005	R	Q	Polymorphism	-
O94761	RECQ4_HUMAN	92	S	P	Polymorphism	-
O94761	RECQ4_HUMAN	441	P	S	Polymorphism	-
O94761	RECQ4_HUMAN	591	P	L	Polymorphism	-
O94761	RECQ4_HUMAN	355	R	Q	Polymorphism	-
O94761	RECQ4_HUMAN	1043	L	P	Polymorphism	-
O94761	RECQ4_HUMAN	1106	R	H	Polymorphism	-
O94761	RECQ4_HUMAN	793	P	L	Polymorphism	-
O94761	RECQ4_HUMAN	522	R	H	Polymorphism	-
O94761	RECQ4_HUMAN	301	E	K	Polymorphism	-
O94761	RECQ4_HUMAN	964	P	T	Polymorphism	-
O94761	RECQ4_HUMAN	273	A	T	Polymorphism	-
O94761	RECQ4_HUMAN	522	R	C	Polymorphism	-
O94761	RECQ4_HUMAN	793	P	S	Polymorphism	-
O94761	RECQ4_HUMAN	1021	R	Q	Polymorphism	-
O94761	RECQ4_HUMAN	1045	A	T	Polymorphism	-
O94761	RECQ4_HUMAN	1113	G	R	Polymorphism	-
O94761	RECQ4_HUMAN	54	Q	R	Polymorphism	-
O94761	RECQ4_HUMAN	1105	G	D	Polymorphism	-
O94761	RECQ4_HUMAN	976	E	K	Polymorphism	-
O94761	RECQ4_HUMAN	189	G	S	Polymorphism	-
O94761	RECQ4_HUMAN	1105	G	S	Polymorphism	-
O94761	RECQ4_HUMAN	1004	R	W	Polymorphism	-
O94761	RECQ4_HUMAN	1148	S	F	Polymorphism	-
O94761	RECQ4_HUMAN	523	S	T	Polymorphism	-
O94762	RECQ5_HUMAN	628	S	N	Polymorphism	-
O94762	RECQ5_HUMAN	480	D	G	Polymorphism	-
O94763	RMP_HUMAN	22	L	P	Polymorphism	-
O94766	B3GA3_HUMAN	140	P	L	Disease	Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600]
O94766	B3GA3_HUMAN	277	R	Q	Disease	Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600]
O94766	B3GA3_HUMAN	223	G	S	Unclassified	Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600]
O94768	ST17B_HUMAN	320	S	F	Polymorphism	-
O94769	ECM2_HUMAN	204	R	Q	Polymorphism	-
O94769	ECM2_HUMAN	56	Q	P	Polymorphism	-
O94769	ECM2_HUMAN	109	T	S	Polymorphism	-
O94777	DPM2_HUMAN	23	Y	C	Disease	Congenital disorder of glycosylation 1U (CDG1U) [MIM:615042]
O94777	DPM2_HUMAN	76	T	S	Polymorphism	-
O94778	AQP8_HUMAN	260	A	P	Polymorphism	-
O94778	AQP8_HUMAN	229	I	M	Unclassified	A breast cancer sample
O94779	CNTN5_HUMAN	530	I	V	Polymorphism	-
O94779	CNTN5_HUMAN	1065	Y	F	Polymorphism	-
O94779	CNTN5_HUMAN	1079	S	T	Polymorphism	-
O94779	CNTN5_HUMAN	70	L	R	Polymorphism	-
O94779	CNTN5_HUMAN	23	S	A	Polymorphism	-
O94779	CNTN5_HUMAN	81	N	S	Polymorphism	-
O94779	CNTN5_HUMAN	1094	M	V	Polymorphism	-
O94788	AL1A2_HUMAN	50	E	G	Polymorphism	-
O94788	AL1A2_HUMAN	436	E	K	Polymorphism	-
O94788	AL1A2_HUMAN	348	V	I	Polymorphism	-
O94788	AL1A2_HUMAN	110	A	V	Polymorphism	-
O94804	STK10_HUMAN	336	T	I	Polymorphism	-
O94804	STK10_HUMAN	520	P	L	Polymorphism	-
O94804	STK10_HUMAN	322	R	W	Polymorphism	-
O94804	STK10_HUMAN	277	K	E	Disease	Testicular germ cell tumor (TGCT) [MIM:273300]
O94804	STK10_HUMAN	268	R	C	Polymorphism	-
O94804	STK10_HUMAN	853	S	L	Polymorphism	-
O94804	STK10_HUMAN	905	S	T	Polymorphism	-
O94804	STK10_HUMAN	467	N	S	Polymorphism	-
O94804	STK10_HUMAN	710	M	T	Polymorphism	-
O94804	STK10_HUMAN	947	C	Y	Polymorphism	-
O94804	STK10_HUMAN	942	S	N	Polymorphism	-
O94804	STK10_HUMAN	480	P	L	Polymorphism	-
O94806	KPCD3_HUMAN	716	V	M	Unclassified	A glioblastoma multiforme sample
O94806	KPCD3_HUMAN	225	P	S	Polymorphism	-
O94806	KPCD3_HUMAN	128	A	T	Polymorphism	-
O94806	KPCD3_HUMAN	546	Q	R	Polymorphism	-
O94806	KPCD3_HUMAN	42	N	D	Polymorphism	-
O94806	KPCD3_HUMAN	445	L	I	Polymorphism	-
O94808	GFPT2_HUMAN	471	I	V	Polymorphism	-
O94810	RGS11_HUMAN	351	V	M	Polymorphism	-
O94810	RGS11_HUMAN	427	M	T	Polymorphism	-
O94812	BAIP3_HUMAN	582	D	A	Polymorphism	-
O94812	BAIP3_HUMAN	879	S	I	Polymorphism	-
O94813	SLIT2_HUMAN	636	S	P	Polymorphism	-
O94813	SLIT2_HUMAN	1277	S	F	Polymorphism	-
O94822	LTN1_HUMAN	403	L	S	Polymorphism	-
O94822	LTN1_HUMAN	761	V	I	Polymorphism	-
O94822	LTN1_HUMAN	500	A	V	Polymorphism	-
O94822	LTN1_HUMAN	565	G	C	Polymorphism	-
O94823	AT10B_HUMAN	217	C	R	Polymorphism	-
O94827	PKHG5_HUMAN	876	G	R	Disease	Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376]
O94827	PKHG5_HUMAN	703	F	S	Disease	Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4) [MIM:611067]
O94827	PKHG5_HUMAN	719	T	M	Disease	Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376]
O94830	DDHD2_HUMAN	186	T	M	Polymorphism	-
O94830	DDHD2_HUMAN	660	D	H	Disease	Spastic paraplegia 54, autosomal recessive (SPG54) [MIM:615033]
O94832	MYO1D_HUMAN	771	R	H	Polymorphism	-
O94832	MYO1D_HUMAN	765	P	S	Polymorphism	-
O94850	DEND_HUMAN	661	E	G	Polymorphism	-
O94851	MICA2_HUMAN	220	I	V	Polymorphism	-
O94851	MICA2_HUMAN	1106	L	P	Polymorphism	-
O94851	MICA2_HUMAN	1089	R	Q	Polymorphism	-
O94851	MICA2_HUMAN	687	D	E	Polymorphism	-
O94851	MICA2_HUMAN	1110	P	S	Polymorphism	-
O94851	MICA2_HUMAN	145	F	L	Polymorphism	-
O94854	K0754_HUMAN	969	T	A	Polymorphism	-
O94854	K0754_HUMAN	1058	E	K	Polymorphism	-
O94854	K0754_HUMAN	824	I	V	Polymorphism	-
O94855	SC24D_HUMAN	42	M	T	Polymorphism	-
O94855	SC24D_HUMAN	496	F	I	Polymorphism	-
O94855	SC24D_HUMAN	193	P	L	Polymorphism	-
O94855	SC24D_HUMAN	978	Q	P	Disease	Cole-Carpenter syndrome 2 (CLCRP2) [MIM:616294]
O94855	SC24D_HUMAN	1015	S	F	Disease	Cole-Carpenter syndrome 2 (CLCRP2) [MIM:616294]
O94856	NFASC_HUMAN	159	T	M	Polymorphism	-
O94874	UFL1_HUMAN	137	V	F	Polymorphism	-
O94875	SRBS2_HUMAN	1048	A	V	Polymorphism	-
O94876	TMCC1_HUMAN	165	S	G	Polymorphism	-
O94880	PHF14_HUMAN	115	K	R	Polymorphism	-
O94885	SASH1_HUMAN	884	Q	R	Polymorphism	-
O94885	SASH1_HUMAN	298	P	Q	Polymorphism	-
O94886	CSCL1_HUMAN	121	F	I	Polymorphism	-
O94886	CSCL1_HUMAN	622	V	M	Polymorphism	-
O94887	FARP2_HUMAN	643	V	I	Polymorphism	-
O94887	FARP2_HUMAN	260	T	I	Polymorphism	-
O94887	FARP2_HUMAN	185	K	N	Polymorphism	-
O94892	ZN432_HUMAN	416	L	V	Unclassified	A breast cancer sample
O94892	ZN432_HUMAN	490	C	Y	Unclassified	A breast cancer sample
O94900	TOX_HUMAN	267	A	T	Unclassified	-
O94901	SUN1_HUMAN	203	A	V	Polymorphism	-
O94901	SUN1_HUMAN	614	A	V	Polymorphism	-
O94901	SUN1_HUMAN	118	H	Y	Polymorphism	-
O94903	PLPHP_HUMAN	87	P	L	Disease	Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290]
O94903	PLPHP_HUMAN	175	L	P	Disease	Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290]
O94903	PLPHP_HUMAN	241	R	Q	Disease	Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290]
O94903	PLPHP_HUMAN	24	V	M	Polymorphism	-
O94905	ERLN2_HUMAN	71	V	A	Polymorphism	-
O94906	PRP6_HUMAN	729	R	W	Disease	Retinitis pigmentosa 60 (RP60) [MIM:613983]
O94906	PRP6_HUMAN	477	N	S	Polymorphism	-
O94910	AGRL1_HUMAN	595	E	Q	Polymorphism	-
O94911	ABCA8_HUMAN	680	C	G	Polymorphism	-
O94911	ABCA8_HUMAN	619	L	R	Polymorphism	-
O94911	ABCA8_HUMAN	1430	G	S	Polymorphism	-
O94911	ABCA8_HUMAN	256	T	A	Polymorphism	-
O94911	ABCA8_HUMAN	331	G	S	Polymorphism	-
O94911	ABCA8_HUMAN	489	Y	F	Polymorphism	-
O94911	ABCA8_HUMAN	416	A	V	Polymorphism	-
O94913	PCF11_HUMAN	651	Q	H	Polymorphism	-
O94913	PCF11_HUMAN	1119	H	Y	Polymorphism	-
O94913	PCF11_HUMAN	1402	E	K	Polymorphism	-
O94915	FRYL_HUMAN	1878	I	V	Polymorphism	-
O94915	FRYL_HUMAN	890	P	S	Polymorphism	-
O94919	ENDD1_HUMAN	350	V	M	Polymorphism	-
O94919	ENDD1_HUMAN	446	G	V	Polymorphism	-
O94921	CDK14_HUMAN	432	M	I	Unclassified	An ovarian mucinous carcinoma
O94921	CDK14_HUMAN	463	S	R	Polymorphism	-
O94923	GLCE_HUMAN	597	V	I	Polymorphism	-
O94923	GLCE_HUMAN	65	M	V	Polymorphism	-
O94925	GLSK_HUMAN	254	A	P	Polymorphism	-
O94925	GLSK_HUMAN	272	R	K	Disease	Epileptic encephalopathy, early infantile, 71 (EIEE71) [MIM:618328]
O94925	GLSK_HUMAN	313	P	L	Disease	Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) [MIM:618412]
O94925	GLSK_HUMAN	482	S	C	Disease	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID) [MIM:618339]
O94927	HAUS5_HUMAN	277	A	D	Polymorphism	-
O94927	HAUS5_HUMAN	213	P	L	Polymorphism	-
O94929	ABLM3_HUMAN	125	G	D	Polymorphism	-
O94933	SLIK3_HUMAN	605	I	V	Polymorphism	-
O94941	RNF37_HUMAN	479	L	P	Polymorphism	-
O94941	RNF37_HUMAN	96	T	M	Polymorphism	-
O94952	FBX21_HUMAN	180	N	T	Polymorphism	-
O94953	KDM4B_HUMAN	29	N	T	Polymorphism	-
O94953	KDM4B_HUMAN	710	K	E	Polymorphism	-
O94955	RHBT3_HUMAN	20	R	Q	Polymorphism	-
O94955	RHBT3_HUMAN	21	P	R	Polymorphism	-
O94955	RHBT3_HUMAN	262	N	D	Polymorphism	-
O94956	SO2B1_HUMAN	312	R	Q	Polymorphism	-
O94956	SO2B1_HUMAN	201	V	M	Polymorphism	-
O94956	SO2B1_HUMAN	77	E	K	Unclassified	A breast cancer sample
O94956	SO2B1_HUMAN	486	S	F	Polymorphism	-
O94956	SO2B1_HUMAN	392	I	T	Polymorphism	-
O94964	SOGA1_HUMAN	993	Q	H	Polymorphism	-
O94966	UBP19_HUMAN	36	D	H	Polymorphism	-
O94972	TRI37_HUMAN	838	V	I	Polymorphism	-
O94972	TRI37_HUMAN	432	Q	R	Polymorphism	-
O94972	TRI37_HUMAN	76	L	P	Disease	Mulibrey nanism (MUL) [MIM:253250]
O94972	TRI37_HUMAN	109	C	S	Disease	Mulibrey nanism (MUL) [MIM:253250]
O94972	TRI37_HUMAN	108	T	A	Polymorphism	-
O94972	TRI37_HUMAN	322	G	V	Disease	Mulibrey nanism (MUL) [MIM:253250]
O94979	SC31A_HUMAN	841	P	L	Polymorphism	-
O94979	SC31A_HUMAN	456	N	K	Polymorphism	-
O94979	SC31A_HUMAN	1055	P	T	Polymorphism	-
O94979	SC31A_HUMAN	263	I	V	Polymorphism	-
O94983	CMTA2_HUMAN	267	A	P	Polymorphism	-
O94983	CMTA2_HUMAN	903	S	P	Polymorphism	-
O94985	CSTN1_HUMAN	857	P	H	Polymorphism	-
O94985	CSTN1_HUMAN	583	P	R	Polymorphism	-
O94985	CSTN1_HUMAN	870	F	S	Polymorphism	-
O94985	CSTN1_HUMAN	332	A	T	Polymorphism	-
O94985	CSTN1_HUMAN	524	S	C	Polymorphism	-
O94985	CSTN1_HUMAN	474	V	A	Polymorphism	-
O94986	CE152_HUMAN	54	S	L	Polymorphism	-
O94986	CE152_HUMAN	914	L	V	Polymorphism	-
O94986	CE152_HUMAN	265	Q	P	Disease	Microcephaly 9, primary, autosomal recessive (MCPH9) [MIM:614852]
O94986	CE152_HUMAN	667	K	R	Disease	Seckel syndrome 5 (SCKL5) [MIM:613823]
O94986	CE152_HUMAN	793	S	I	Polymorphism	-
O94986	CE152_HUMAN	1106	V	A	Polymorphism	-
O94988	FA13A_HUMAN	769	V	I	Polymorphism	-
O94989	ARHGF_HUMAN	277	L	P	Polymorphism	-
O94989	ARHGF_HUMAN	73	P	S	Polymorphism	-
O94989	ARHGF_HUMAN	155	G	V	Polymorphism	-
O94989	ARHGF_HUMAN	831	S	P	Polymorphism	-
O94989	ARHGF_HUMAN	604	R	C	Unclassified	-
O94993	SOX30_HUMAN	749	V	M	Polymorphism	-
O94993	SOX30_HUMAN	429	Q	K	Polymorphism	-
O95006	OR2F2_HUMAN	170	T	A	Polymorphism	-
O95006	OR2F2_HUMAN	98	A	V	Polymorphism	-
O95006	OR2F2_HUMAN	278	Y	H	Polymorphism	-
O95007	OR6B1_HUMAN	143	R	C	Polymorphism	-
O95025	SEM3D_HUMAN	701	K	Q	Polymorphism	-
O95045	UPP2_HUMAN	78	M	L	Polymorphism	-
O95045	UPP2_HUMAN	10	R	S	Polymorphism	-
O95049	ZO3_HUMAN	898	M	T	Polymorphism	-
O95050	INMT_HUMAN	246	N	S	Polymorphism	-
O95050	INMT_HUMAN	254	F	C	Polymorphism	-
O95050	INMT_HUMAN	258	R	H	Polymorphism	-
O95050	INMT_HUMAN	219	E	G	Polymorphism	-
O95050	INMT_HUMAN	28	D	N	Polymorphism	-
O95050	INMT_HUMAN	205	M	V	Polymorphism	-
O95050	INMT_HUMAN	214	V	M	Polymorphism	-
O95067	CCNB2_HUMAN	395	I	T	Polymorphism	-
O95067	CCNB2_HUMAN	135	V	I	Polymorphism	-
O95067	CCNB2_HUMAN	100	M	T	Polymorphism	-
O95071	UBR5_HUMAN	2150	S	R	Polymorphism	-
O95072	REC8_HUMAN	31	R	C	Polymorphism	-
O95072	REC8_HUMAN	294	P	L	Polymorphism	-
O95072	REC8_HUMAN	411	V	F	Polymorphism	-
O95073	FSBP_HUMAN	226	R	K	Polymorphism	-
O95076	ALX3_HUMAN	234	P	A	Polymorphism	-
O95076	ALX3_HUMAN	183	R	W	Disease	Frontonasal dysplasia 1 (FND1) [MIM:136760]
O95076	ALX3_HUMAN	168	L	V	Disease	Frontonasal dysplasia 1 (FND1) [MIM:136760]
O95076	ALX3_HUMAN	203	N	S	Disease	Frontonasal dysplasia 1 (FND1) [MIM:136760]
O95076	ALX3_HUMAN	196	R	W	Disease	Frontonasal dysplasia 1 (FND1) [MIM:136760]
O95081	AGFG2_HUMAN	365	T	N	Polymorphism	-
O95104	SCAF4_HUMAN	846	S	Y	Polymorphism	-
O95125	ZN202_HUMAN	154	V	A	Polymorphism	-
O95125	ZN202_HUMAN	533	G	A	Polymorphism	-
O95136	S1PR2_HUMAN	108	R	P	Disease	Deafness, autosomal recessive, 68 (DFNB68) [MIM:610419]
O95136	S1PR2_HUMAN	140	Y	C	Disease	Deafness, autosomal recessive, 68 (DFNB68) [MIM:610419]
O95140	MFN2_HUMAN	376	M	I	Unclassified	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	364	R	W	Disease	Neuropathy, hereditary motor and sensory, 6A (HMSN6A) [MIM:601152]
O95140	MFN2_HUMAN	570	N	S	Unclassified	-
O95140	MFN2_HUMAN	468	R	H	Unclassified	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	276	Q	R	Disease	Neuropathy, hereditary motor and sensory, 6A (HMSN6A) [MIM:601152]
O95140	MFN2_HUMAN	94	R	Q	Disease	Charcot-Marie-Tooth disease 2A2B (CMT2A2B) [MIM:617087]
O95140	MFN2_HUMAN	127	G	V	Unclassified	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	206	T	I	Disease	Neuropathy, hereditary motor and sensory, 6A (HMSN6A) [MIM:601152]
O95140	MFN2_HUMAN	94	R	W	Disease	Neuropathy, hereditary motor and sensory, 6A (HMSN6A) [MIM:601152]
O95140	MFN2_HUMAN	362	T	M	Unclassified	Charcot-Marie-Tooth disease 2A2B (CMT2A2B) [MIM:617087]
O95140	MFN2_HUMAN	233	L	V	Disease	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	347	E	V	Unclassified	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	705	V	I	Polymorphism	-
O95140	MFN2_HUMAN	216	F	S	Disease	Charcot-Marie-Tooth disease 2A2B (CMT2A2B) [MIM:617087]
O95140	MFN2_HUMAN	69	V	F	Disease	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	364	R	W	Disease	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	357	K	N	Disease	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	76	L	P	Disease	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	744	E	M	Disease	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	214	D	N	Unclassified	Charcot-Marie-Tooth disease 2A2B (CMT2A2B) [MIM:617087]
O95140	MFN2_HUMAN	280	R	H	Disease	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	361	H	Y	Disease	Neuropathy, hereditary motor and sensory, 6A (HMSN6A) [MIM:601152]
O95140	MFN2_HUMAN	259	R	H	Unclassified	-
O95140	MFN2_HUMAN	94	R	Q	Disease	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	164	A	V	Unclassified	Charcot-Marie-Tooth disease 2A2B (CMT2A2B) [MIM:617087]
O95140	MFN2_HUMAN	707	R	W	Disease	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	716	A	T	Unclassified	-
O95140	MFN2_HUMAN	94	R	Q	Disease	Neuropathy, hereditary motor and sensory, 6A (HMSN6A) [MIM:601152]
O95140	MFN2_HUMAN	390	C	R	Unclassified	Charcot-Marie-Tooth disease 2A2B (CMT2A2B) [MIM:617087]
O95140	MFN2_HUMAN	740	W	S	Disease	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95140	MFN2_HUMAN	707	R	W	Disease	Charcot-Marie-Tooth disease 2A2B (CMT2A2B) [MIM:617087]
O95140	MFN2_HUMAN	251	P	A	Disease	Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260]
O95150	TNF15_HUMAN	110	F	L	Polymorphism	-
O95153	RIMB1_HUMAN	1728	H	R	Polymorphism	-
O95153	RIMB1_HUMAN	1140	A	P	Polymorphism	-
O95153	RIMB1_HUMAN	1830	G	E	Polymorphism	-
O95153	RIMB1_HUMAN	652	G	R	Polymorphism	-
O95153	RIMB1_HUMAN	586	A	T	Polymorphism	-
O95153	RIMB1_HUMAN	514	Q	R	Polymorphism	-
O95153	RIMB1_HUMAN	817	Q	R	Polymorphism	-
O95153	RIMB1_HUMAN	1253	R	C	Polymorphism	-
O95153	RIMB1_HUMAN	1118	H	L	Polymorphism	-
O95153	RIMB1_HUMAN	851	W	R	Polymorphism	-
O95154	ARK73_HUMAN	138	V	M	Polymorphism	-
O95154	ARK73_HUMAN	215	N	D	Polymorphism	-
O95154	ARK73_HUMAN	323	T	A	Polymorphism	-
O95155	UBE4B_HUMAN	605	V	I	Polymorphism	-
O95159	ZFPL1_HUMAN	218	R	Q	Polymorphism	-
O95163	ELP1_HUMAN	1013	G	S	Polymorphism	-
O95163	ELP1_HUMAN	182	M	K	Polymorphism	-
O95163	ELP1_HUMAN	765	G	E	Polymorphism	-
O95163	ELP1_HUMAN	312	E	K	Polymorphism	-
O95163	ELP1_HUMAN	1072	C	S	Polymorphism	-
O95163	ELP1_HUMAN	952	K	I	Polymorphism	-
O95163	ELP1_HUMAN	830	I	M	Polymorphism	-
O95163	ELP1_HUMAN	525	R	Q	Polymorphism	-
O95163	ELP1_HUMAN	816	I	L	Polymorphism	-
O95163	ELP1_HUMAN	1158	P	L	Polymorphism	-
O95163	ELP1_HUMAN	696	R	P	Disease	Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900]
O95163	ELP1_HUMAN	848	T	N	Polymorphism	-
O95163	ELP1_HUMAN	70	R	C	Polymorphism	-
O95167	NDUA3_HUMAN	62	N	D	Unclassified	A breast cancer sample
O95169	NDUB8_HUMAN	76	P	Q	Disease	Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252]
O95169	NDUB8_HUMAN	144	C	W	Disease	Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252]
O95169	NDUB8_HUMAN	62	Y	H	Disease	Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252]
O95170	CDRT1_HUMAN	643	F	L	Polymorphism	-
O95171	SCEL_HUMAN	480	K	R	Polymorphism	-
O95171	SCEL_HUMAN	386	R	K	Polymorphism	-
O95171	SCEL_HUMAN	336	V	L	Polymorphism	-
O95177	GAAS1_HUMAN	72	V	I	Polymorphism	-
O95180	CAC1H_HUMAN	664	V	A	Polymorphism	-
O95180	CAC1H_HUMAN	282	E	K	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	2077	R	H	Polymorphism	-
O95180	CAC1H_HUMAN	1871	R	Q	Polymorphism	-
O95180	CAC1H_HUMAN	648	P	L	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	812	V	M	Polymorphism	-
O95180	CAC1H_HUMAN	788	R	C	Polymorphism	-
O95180	CAC1H_HUMAN	1974	E	G	Polymorphism	-
O95180	CAC1H_HUMAN	1549	M	V	Disease	Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027]
O95180	CAC1H_HUMAN	1463	D	N	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	313	M	V	Polymorphism	-
O95180	CAC1H_HUMAN	831	V	M	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	456	C	S	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	161	F	L	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	196	S	L	Disease	Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027]
O95180	CAC1H_HUMAN	499	G	S	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	848	G	S	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	1951	V	E	Disease	-
O95180	CAC1H_HUMAN	748	A	V	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	640	P	L	Polymorphism	-
O95180	CAC1H_HUMAN	784	G	S	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	2060	R	H	Polymorphism	-
O95180	CAC1H_HUMAN	684	P	S	Polymorphism	-
O95180	CAC1H_HUMAN	2083	P	L	Disease	Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027]
O95180	CAC1H_HUMAN	755	G	D	Disease	Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942]
O95180	CAC1H_HUMAN	773	G	D	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	516	H	Y	Unclassified	-
O95180	CAC1H_HUMAN	744	R	Q	Disease	Epilepsy, childhood absence 6 (ECA6) [MIM:611942]
O95180	CAC1H_HUMAN	2173	P	S	Polymorphism	-
O95180	CAC1H_HUMAN	618	P	L	Disease	Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942]
O95180	CAC1H_HUMAN	1970	S	C	Unclassified	-
O95180	CAC1H_HUMAN	1549	M	I	Disease	Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027]
O95182	NDUA7_HUMAN	66	P	A	Polymorphism	-
O95185	UNC5C_HUMAN	721	M	T	Polymorphism	-
O95185	UNC5C_HUMAN	835	T	M	Disease	Alzheimer disease (AD) [MIM:104300]
O95185	UNC5C_HUMAN	37	G	V	Polymorphism	-
O95185	UNC5C_HUMAN	841	A	T	Polymorphism	-
O95190	OAZ2_HUMAN	70	P	L	Polymorphism	-
O95196	CSPG5_HUMAN	188	G	V	Polymorphism	-
O95196	CSPG5_HUMAN	417	T	P	Polymorphism	-
O95197	RTN3_HUMAN	501	D	H	Polymorphism	-
O95197	RTN3_HUMAN	6	A	E	Polymorphism	-
O95199	RCBT2_HUMAN	515	C	S	Polymorphism	-
O95199	RCBT2_HUMAN	263	A	T	Polymorphism	-
O95201	ZN205_HUMAN	43	T	A	Polymorphism	-
O95201	ZN205_HUMAN	255	A	D	Polymorphism	-
O95206	PCDH8_HUMAN	39	E	A	Polymorphism	-
O95206	PCDH8_HUMAN	956	K	N	Unclassified	A breast cancer sample
O95206	PCDH8_HUMAN	7	W	R	Polymorphism	-
O95206	PCDH8_HUMAN	367	T	A	Polymorphism	-
O95206	PCDH8_HUMAN	743	V	A	Polymorphism	-
O95208	EPN2_HUMAN	531	P	T	Polymorphism	-
O95208	EPN2_HUMAN	532	P	T	Polymorphism	-
O95208	EPN2_HUMAN	401	V	A	Polymorphism	-
O95218	ZRAB2_HUMAN	207	R	G	Polymorphism	-
O95221	OR5F1_HUMAN	192	T	A	Polymorphism	-
O95221	OR5F1_HUMAN	294	S	N	Polymorphism	-
O95221	OR5F1_HUMAN	278	Y	H	Polymorphism	-
O95222	OR6A2_HUMAN	22	A	V	Polymorphism	-
O95229	ZWINT_HUMAN	4	A	S	Polymorphism	-
O95229	ZWINT_HUMAN	187	R	G	Polymorphism	-
O95231	VENTX_HUMAN	101	E	K	Polymorphism	-
O95231	VENTX_HUMAN	191	G	R	Polymorphism	-
O95231	VENTX_HUMAN	42	L	P	Polymorphism	-
O95231	VENTX_HUMAN	247	G	D	Polymorphism	-
O95231	VENTX_HUMAN	79	M	V	Polymorphism	-
O95235	KI20A_HUMAN	63	E	K	Polymorphism	-
O95235	KI20A_HUMAN	839	P	L	Polymorphism	-
O95236	APOL3_HUMAN	135	A	V	Polymorphism	-
O95236	APOL3_HUMAN	39	S	R	Polymorphism	-
O95237	LRAT_HUMAN	175	S	R	Disease	Leber congenital amaurosis 14 (LCA14) [MIM:613341]
O95237	LRAT_HUMAN	173	P	L	Polymorphism	-
O95238	SPDEF_HUMAN	57	A	T	Polymorphism	-
O95239	KIF4A_HUMAN	1193	L	S	Polymorphism	-
O95239	KIF4A_HUMAN	491	A	V	Polymorphism	-
O95239	KIF4A_HUMAN	422	L	W	Polymorphism	-
O95243	MBD4_HUMAN	568	D	H	Polymorphism	-
O95243	MBD4_HUMAN	346	E	K	Polymorphism	-
O95243	MBD4_HUMAN	273	A	T	Polymorphism	-
O95243	MBD4_HUMAN	61	C	R	Polymorphism	-
O95243	MBD4_HUMAN	273	A	S	Polymorphism	-
O95243	MBD4_HUMAN	358	I	T	Polymorphism	-
O95243	MBD4_HUMAN	342	S	P	Polymorphism	-
O95248	MTMR5_HUMAN	418	M	V	Disease	Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284]
O95248	MTMR5_HUMAN	1565	T	A	Disease	Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284]
O95255	MRP6_HUMAN	518	R	Q	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1406	Q	K	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	497	N	K	Polymorphism	-
O95255	MRP6_HUMAN	463	L	H	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1335	L	P	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	551	F	S	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1133	G	A	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	594	A	V	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	440	C	G	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	632	H	Q	Polymorphism	-
O95255	MRP6_HUMAN	1226	L	I	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	535	S	P	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	699	E	D	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	673	L	P	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1130	T	M	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	4	P	H	Unclassified	-
O95255	MRP6_HUMAN	1347	Q	H	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	726	L	P	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	21	P	S	Unclassified	-
O95255	MRP6_HUMAN	1354	G	R	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	590	S	F	Disease	Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
O95255	MRP6_HUMAN	1339	R	L	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	765	R	Q	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	946	L	I	Polymorphism	-
O95255	MRP6_HUMAN	1400	E	K	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	568	F	S	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	751	M	K	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1235	R	W	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1139	A	T	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1459	R	C	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1241	W	C	Polymorphism	-
O95255	MRP6_HUMAN	1203	G	D	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1221	R	C	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1221	R	H	Disease	Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
O95255	MRP6_HUMAN	760	R	W	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	663	G	C	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	78	A	T	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1339	R	H	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1335	L	Q	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1357	R	W	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	417	V	M	Polymorphism	-
O95255	MRP6_HUMAN	807	R	W	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	953	L	H	Polymorphism	-
O95255	MRP6_HUMAN	411	N	K	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	724	R	L	Polymorphism	-
O95255	MRP6_HUMAN	391	R	G	Disease	Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
O95255	MRP6_HUMAN	495	L	H	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	319	I	V	Polymorphism	-
O95255	MRP6_HUMAN	9	A	E	Unclassified	-
O95255	MRP6_HUMAN	614	V	A	Polymorphism	-
O95255	MRP6_HUMAN	755	G	R	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1346	P	S	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1238	D	H	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1164	R	Q	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1301	T	I	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	834	M	T	Unclassified	-
O95255	MRP6_HUMAN	1314	R	Q	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	455	A	P	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	992	G	R	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	742	I	V	Polymorphism	-
O95255	MRP6_HUMAN	766	A	D	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	944	T	I	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	398	S	G	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1138	R	Q	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1442	A	T	Unclassified	-
O95255	MRP6_HUMAN	724	R	K	Polymorphism	-
O95255	MRP6_HUMAN	1114	R	C	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1303	A	P	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	370	N	D	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	600	R	C	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	207	G	R	Polymorphism	-
O95255	MRP6_HUMAN	820	A	P	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	950	A	T	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1121	S	L	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	698	Q	P	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	807	R	Q	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1064	R	W	Polymorphism	-
O95255	MRP6_HUMAN	64	R	Q	Unclassified	-
O95255	MRP6_HUMAN	709	E	G	Unclassified	-
O95255	MRP6_HUMAN	1424	I	T	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	265	R	G	Polymorphism	-
O95255	MRP6_HUMAN	419	R	Q	Unclassified	-
O95255	MRP6_HUMAN	665	V	A	Polymorphism	-
O95255	MRP6_HUMAN	777	D	N	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1298	V	F	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1314	R	W	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	881	R	S	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	382	R	W	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	677	L	P	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	811	T	M	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1114	R	C	Disease	Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
O95255	MRP6_HUMAN	810	V	M	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1339	R	C	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1314	R	W	Disease	Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
O95255	MRP6_HUMAN	355	L	R	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	61	G	D	Polymorphism	-
O95255	MRP6_HUMAN	605	L	P	Unclassified	-
O95255	MRP6_HUMAN	514	V	I	Polymorphism	-
O95255	MRP6_HUMAN	1138	R	P	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	391	R	G	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1302	G	R	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	90	A	T	Unclassified	-
O95255	MRP6_HUMAN	392	K	N	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1138	R	W	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	355	L	R	Disease	Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
O95255	MRP6_HUMAN	1321	G	S	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1361	D	N	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	948	L	P	Unclassified	-
O95255	MRP6_HUMAN	1056	D	E	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	64	R	W	Polymorphism	-
O95255	MRP6_HUMAN	1268	R	Q	Polymorphism	-
O95255	MRP6_HUMAN	1121	S	W	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1114	R	P	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	848	M	V	Polymorphism	-
O95255	MRP6_HUMAN	317	S	R	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	129	G	E	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	281	K	E	Polymorphism	-
O95255	MRP6_HUMAN	364	T	R	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255	MRP6_HUMAN	1097	L	I	Polymorphism	-
O95255	MRP6_HUMAN	158	A	V	Polymorphism	-
O95255	MRP6_HUMAN	125	E	K	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95256	I18RA_HUMAN	350	V	I	Polymorphism	-
O95257	GA45G_HUMAN	112	G	S	Polymorphism	-
O95258	UCP5_HUMAN	55	E	A	Polymorphism	-
O95259	KCNH1_HUMAN	375	G	R	Disease	Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500]
O95259	KCNH1_HUMAN	494	I	V	Disease	Temple-Baraitser syndrome (TMBTS) [MIM:611816]
O95259	KCNH1_HUMAN	379	L	V	Disease	Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500]
O95259	KCNH1_HUMAN	496	G	R	Disease	Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500]
O95259	KCNH1_HUMAN	494	I	V	Disease	Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500]
O95259	KCNH1_HUMAN	503	Q	R	Disease	Temple-Baraitser syndrome (TMBTS) [MIM:611816]
O95259	KCNH1_HUMAN	352	S	Y	Disease	Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500]
O95259	KCNH1_HUMAN	489	L	F	Disease	Temple-Baraitser syndrome (TMBTS) [MIM:611816]
O95259	KCNH1_HUMAN	383	V	L	Disease	Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500]
O95259	KCNH1_HUMAN	217	K	N	Disease	Temple-Baraitser syndrome (TMBTS) [MIM:611816]
O95263	PDE8B_HUMAN	305	H	P	Disease	Primary pigmented nodular adrenocortical disease 3 (PPNAD3) [MIM:614190]
O95264	5HT3B_HUMAN	156	S	R	Polymorphism	-
O95264	5HT3B_HUMAN	183	V	I	Polymorphism	-
O95264	5HT3B_HUMAN	143	I	T	Polymorphism	-
O95264	5HT3B_HUMAN	129	Y	S	Polymorphism	-
O95278	EPM2A_HUMAN	293	Q	L	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	310	L	W	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	140	K	N	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	240	G	S	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	187	T	A	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	88	F	L	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	279	G	S	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	171	R	H	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	32	W	G	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	91	R	P	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	108	R	C	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	25	S	P	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	84	F	L	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	46	A	P	Polymorphism	-
O95278	EPM2A_HUMAN	28	E	K	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	210	E	K	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	148	N	Y	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	294	Y	N	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	114	E	D	Polymorphism	-
O95278	EPM2A_HUMAN	301	P	L	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278	EPM2A_HUMAN	194	T	I	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95279	KCNK5_HUMAN	465	P	T	Polymorphism	-
O95292	VAPB_HUMAN	46	T	I	Disease	Amyotrophic lateral sclerosis 8 (ALS8) [MIM:608627]
O95292	VAPB_HUMAN	56	P	S	Disease	Amyotrophic lateral sclerosis 8 (ALS8) [MIM:608627]
O95292	VAPB_HUMAN	56	P	S	Disease	Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) [MIM:182980]
O95294	RASL1_HUMAN	11	V	L	Polymorphism	-
O95294	RASL1_HUMAN	58	T	M	Polymorphism	-
O95294	RASL1_HUMAN	321	R	H	Polymorphism	-
O95295	SNAPN_HUMAN	112	S	C	Polymorphism	-
O95298	NDUC2_HUMAN	46	L	V	Polymorphism	-
O95299	NDUAA_HUMAN	294	L	P	Unclassified	Mitochondrial complex I deficiency, nuclear type 22 (MC1DN22) [MIM:618243]
O95299	NDUAA_HUMAN	2	A	G	Polymorphism	-
O95299	NDUAA_HUMAN	142	Q	R	Disease	Mitochondrial complex I deficiency, nuclear type 22 (MC1DN22) [MIM:618243]
O95319	CELF2_HUMAN	438	D	H	Polymorphism	-
O95340	PAPS2_HUMAN	10	E	K	Polymorphism	-
O95340	PAPS2_HUMAN	291	V	M	Polymorphism	-
O95340	PAPS2_HUMAN	270	G	D	Disease	Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847]
O95340	PAPS2_HUMAN	43	C	Y	Disease	Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847]
O95340	PAPS2_HUMAN	48	T	R	Disease	Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847]
O95340	PAPS2_HUMAN	432	R	K	Polymorphism	-
O95340	PAPS2_HUMAN	183	E	K	Polymorphism	-
O95340	PAPS2_HUMAN	281	M	L	Polymorphism	-
O95340	PAPS2_HUMAN	76	L	Q	Disease	Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847]
O95342	ABCBB_HUMAN	444	V	G	Polymorphism	-
O95342	ABCBB_HUMAN	238	G	V	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	299	R	K	Polymorphism	-
O95342	ABCBB_HUMAN	432	R	T	Disease	Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
O95342	ABCBB_HUMAN	677	M	V	Polymorphism	-
O95342	ABCBB_HUMAN	616	R	G	Polymorphism	-
O95342	ABCBB_HUMAN	56	S	L	Polymorphism	-
O95342	ABCBB_HUMAN	931	Q	P	Unclassified	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	676	D	Y	Unclassified	-
O95342	ABCBB_HUMAN	855	G	R	Unclassified	-
O95342	ABCBB_HUMAN	619	T	A	Polymorphism	-
O95342	ABCBB_HUMAN	698	R	H	Polymorphism	-
O95342	ABCBB_HUMAN	186	E	G	Disease	Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
O95342	ABCBB_HUMAN	1004	G	D	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	206	I	V	Polymorphism	-
O95342	ABCBB_HUMAN	461	K	E	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	1128	R	H	Disease	Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
O95342	ABCBB_HUMAN	591	N	S	Polymorphism	-
O95342	ABCBB_HUMAN	696	R	W	Unclassified	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	926	A	P	Disease	Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
O95342	ABCBB_HUMAN	1268	R	Q	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	1186	E	K	Polymorphism	-
O95342	ABCBB_HUMAN	336	C	S	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	337	Y	H	Unclassified	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	570	A	T	Disease	Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
O95342	ABCBB_HUMAN	472	Y	C	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	958	R	Q	Polymorphism	-
O95342	ABCBB_HUMAN	1050	R	C	Disease	Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
O95342	ABCBB_HUMAN	284	V	L	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	444	V	D	Polymorphism	-
O95342	ABCBB_HUMAN	444	V	A	Polymorphism	-
O95342	ABCBB_HUMAN	1198	H	R	Unclassified	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	284	V	A	Polymorphism	-
O95342	ABCBB_HUMAN	923	T	P	Disease	Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
O95342	ABCBB_HUMAN	415	R	Q	Polymorphism	-
O95342	ABCBB_HUMAN	1153	R	C	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	1131	D	V	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	482	D	G	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	297	E	G	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	982	G	R	Disease	Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
O95342	ABCBB_HUMAN	865	A	V	Polymorphism	-
O95342	ABCBB_HUMAN	297	E	G	Disease	Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
O95343	SIX3_HUMAN	254	F	L	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	157	F	I	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	167	A	S	Disease	Schizencephaly (SCHZC) [MIM:269160]
O95343	SIX3_HUMAN	213	F	V	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	257	R	G	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	262	R	H	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	269	R	T	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	218	R	W	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	297	P	L	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	218	R	P	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	113	W	C	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	226	L	V	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	244	G	C	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	69	G	D	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	250	V	A	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	138	V	D	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	231	P	R	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	227	Q	P	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	269	R	S	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	269	R	M	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	173	H	P	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	257	R	P	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	172	A	V	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	202	T	I	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	79	M	V	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	258	R	L	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	92	V	G	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	37	G	C	Polymorphism	-
O95343	SIX3_HUMAN	114	S	L	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	105	I	V	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	174	Y	H	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	93	A	D	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95343	SIX3_HUMAN	257	R	W	Disease	Holoprosencephaly 2 (HPE2) [MIM:157170]
O95347	SMC2_HUMAN	1009	E	K	Polymorphism	-
O95352	ATG7_HUMAN	471	V	A	Polymorphism	-
O95359	TACC2_HUMAN	1916	E	K	Polymorphism	-
O95359	TACC2_HUMAN	798	L	V	Unclassified	A breast cancer sample
O95359	TACC2_HUMAN	2900	Q	K	Polymorphism	-
O95359	TACC2_HUMAN	2732	A	T	Polymorphism	-
O95359	TACC2_HUMAN	2102	N	S	Polymorphism	-
O95359	TACC2_HUMAN	2197	V	A	Polymorphism	-
O95359	TACC2_HUMAN	1103	W	R	Polymorphism	-
O95359	TACC2_HUMAN	2271	E	D	Polymorphism	-
O95359	TACC2_HUMAN	2718	V	I	Polymorphism	-
O95359	TACC2_HUMAN	830	L	F	Polymorphism	-
O95359	TACC2_HUMAN	170	V	I	Polymorphism	-
O95359	TACC2_HUMAN	2210	A	V	Polymorphism	-
O95359	TACC2_HUMAN	2216	P	L	Polymorphism	-
O95359	TACC2_HUMAN	1425	A	T	Polymorphism	-
O95359	TACC2_HUMAN	2261	L	H	Polymorphism	-
O95359	TACC2_HUMAN	2078	I	T	Polymorphism	-
O95359	TACC2_HUMAN	1492	P	L	Polymorphism	-
O95359	TACC2_HUMAN	1347	A	S	Unclassified	A breast cancer sample
O95361	TRI16_HUMAN	493	R	W	Polymorphism	-
O95361	TRI16_HUMAN	561	G	V	Polymorphism	-
O95361	TRI16_HUMAN	121	E	D	Polymorphism	-
O95363	SYFM_HUMAN	144	Y	C	Disease	Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946]
O95363	SYFM_HUMAN	280	N	S	Polymorphism	-
O95363	SYFM_HUMAN	57	S	C	Polymorphism	-
O95363	SYFM_HUMAN	142	D	Y	Disease	Spastic paraplegia 77, autosomal recessive (SPG77) [MIM:617046]
O95363	SYFM_HUMAN	329	I	T	Disease	Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946]
O95363	SYFM_HUMAN	391	D	V	Disease	Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946]
O95371	OR2C1_HUMAN	149	C	W	Polymorphism	-
O95371	OR2C1_HUMAN	16	G	S	Polymorphism	-
O95371	OR2C1_HUMAN	229	R	H	Polymorphism	-
O95373	IPO7_HUMAN	111	T	N	Polymorphism	-
O95376	ARI2_HUMAN	29	E	D	Polymorphism	-
O95376	ARI2_HUMAN	24	E	K	Polymorphism	-
O95379	TFIP8_HUMAN	151	S	C	Polymorphism	-
O95382	M3K6_HUMAN	668	R	G	Polymorphism	-
O95382	M3K6_HUMAN	622	N	K	Polymorphism	-
O95382	M3K6_HUMAN	455	T	I	Polymorphism	-
O95382	M3K6_HUMAN	869	P	T	Unclassified	A breast cancer sample
O95382	M3K6_HUMAN	969	S	N	Polymorphism	-
O95382	M3K6_HUMAN	673	R	L	Polymorphism	-
O95382	M3K6_HUMAN	925	S	L	Unclassified	A breast pleomorphic lobular carcinoma sample
O95382	M3K6_HUMAN	1233	G	A	Polymorphism	-
O95382	M3K6_HUMAN	499	R	C	Polymorphism	-
O95382	M3K6_HUMAN	968	T	I	Unclassified	An ovarian endometrioid cancer sample
O95382	M3K6_HUMAN	1061	A	T	Polymorphism	-
O95382	M3K6_HUMAN	544	R	W	Polymorphism	-
O95388	WISP1_HUMAN	205	A	S	Polymorphism	-
O95389	CCN6_HUMAN	99	Y	F	Unclassified	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	223	C	G	Disease	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	145	C	R	Unclassified	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	228	S	P	Unclassified	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	100	C	S	Unclassified	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	114	C	Y	Disease	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	78	C	R	Disease	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	145	C	Y	Unclassified	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	334	S	P	Disease	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	226	G	V	Disease	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	78	C	Y	Disease	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	60	R	C	Polymorphism	-
O95389	CCN6_HUMAN	114	C	R	Disease	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	337	C	Y	Disease	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	268	C	G	Unclassified	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95389	CCN6_HUMAN	83	G	E	Polymorphism	-
O95389	CCN6_HUMAN	56	Q	H	Polymorphism	-
O95389	CCN6_HUMAN	114	C	W	Disease	Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
O95391	SLU7_HUMAN	229	M	T	Polymorphism	-
O95391	SLU7_HUMAN	111	I	V	Polymorphism	-
O95393	BMP10_HUMAN	250	N	K	Polymorphism	-
O95393	BMP10_HUMAN	200	T	S	Polymorphism	-
O95394	AGM1_HUMAN	502	D	Y	Disease	Immunodeficiency 23 (IMD23) [MIM:615816]
O95394	AGM1_HUMAN	246	N	S	Disease	Immunodeficiency 23 (IMD23) [MIM:615816]
O95394	AGM1_HUMAN	466	D	N	Polymorphism	-
O95394	AGM1_HUMAN	501	E	Q	Disease	Immunodeficiency 23 (IMD23) [MIM:615816]
O95394	AGM1_HUMAN	297	D	E	Disease	Immunodeficiency 23 (IMD23) [MIM:615816]
O95394	AGM1_HUMAN	239	D	H	Disease	Immunodeficiency 23 (IMD23) [MIM:615816]
O95394	AGM1_HUMAN	451	Q	R	Disease	Immunodeficiency 23 (IMD23) [MIM:615816]
O95394	AGM1_HUMAN	83	L	S	Disease	Immunodeficiency 23 (IMD23) [MIM:615816]
O95396	MOCS3_HUMAN	429	S	A	Polymorphism	-
O95398	RPGF3_HUMAN	374	G	S	Polymorphism	-
O95398	RPGF3_HUMAN	193	R	G	Polymorphism	-
O95398	RPGF3_HUMAN	16	A	P	Polymorphism	-
O95398	RPGF3_HUMAN	517	C	Y	Polymorphism	-
O95399	UTS2_HUMAN	74	S	N	Polymorphism	-
O95399	UTS2_HUMAN	12	I	T	Polymorphism	-
O95400	CD2B2_HUMAN	231	G	D	Polymorphism	-
O95400	CD2B2_HUMAN	262	T	I	Polymorphism	-
O95405	ZFYV9_HUMAN	414	Q	P	Polymorphism	-
O95405	ZFYV9_HUMAN	639	I	V	Polymorphism	-
O95405	ZFYV9_HUMAN	287	Y	C	Polymorphism	-
O95409	ZIC2_HUMAN	415	H	Q	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	403	T	K	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	404	H	R	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	373	R	P	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	325	R	L	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	304	W	R	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	335	C	F	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	327	H	Y	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	402	Y	N	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	314	F	C	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	272	S	N	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	286	H	Y	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	152	D	F	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	286	H	L	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	409	R	W	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	291	H	Y	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	37	D	N	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	128	D	N	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	286	H	Q	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	36	Q	P	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95409	ZIC2_HUMAN	325	R	S	Disease	Holoprosencephaly 5 (HPE5) [MIM:609637]
O95415	BRI3_HUMAN	123	T	A	Polymorphism	-
O95425	SVIL_HUMAN	1041	V	L	Polymorphism	-
O95425	SVIL_HUMAN	1688	S	P	Polymorphism	-
O95425	SVIL_HUMAN	189	V	A	Polymorphism	-
O95425	SVIL_HUMAN	2005	I	V	Polymorphism	-
O95425	SVIL_HUMAN	1235	P	A	Polymorphism	-
O95425	SVIL_HUMAN	422	V	I	Polymorphism	-
O95425	SVIL_HUMAN	2041	A	V	Polymorphism	-
O95427	PIGN_HUMAN	469	L	F	Polymorphism	-
O95427	PIGN_HUMAN	162	K	E	Polymorphism	-
O95427	PIGN_HUMAN	229	H	D	Polymorphism	-
O95427	PIGN_HUMAN	904	F	L	Polymorphism	-
O95427	PIGN_HUMAN	904	F	C	Polymorphism	-
O95427	PIGN_HUMAN	709	R	Q	Disease	Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080]
O95427	PIGN_HUMAN	470	I	L	Polymorphism	-
O95428	PPN_HUMAN	1260	S	T	Polymorphism	-
O95428	PPN_HUMAN	1201	T	M	Polymorphism	-
O95428	PPN_HUMAN	33	S	G	Polymorphism	-
O95428	PPN_HUMAN	723	Q	H	Polymorphism	-
O95428	PPN_HUMAN	191	A	T	Polymorphism	-
O95428	PPN_HUMAN	461	A	V	Polymorphism	-
O95428	PPN_HUMAN	356	N	H	Polymorphism	-
O95428	PPN_HUMAN	1192	L	V	Polymorphism	-
O95428	PPN_HUMAN	443	V	I	Polymorphism	-
O95428	PPN_HUMAN	628	H	R	Polymorphism	-
O95428	PPN_HUMAN	896	G	R	Polymorphism	-
O95436	NPT2B_HUMAN	634	D	G	Polymorphism	-
O95436	NPT2B_HUMAN	106	G	R	Disease	Pulmonary alveolar microlithiasis (PALM) [MIM:265100]
O95436	NPT2B_HUMAN	45	V	A	Polymorphism	-
O95447	LCA5L_HUMAN	17	G	S	Polymorphism	-
O95447	LCA5L_HUMAN	547	G	S	Polymorphism	-
O95450	ATS2_HUMAN	665	G	R	Polymorphism	-
O95450	ATS2_HUMAN	241	R	H	Polymorphism	-
O95450	ATS2_HUMAN	331	E	K	Polymorphism	-
O95450	ATS2_HUMAN	245	V	I	Polymorphism	-
O95450	ATS2_HUMAN	74	V	M	Polymorphism	-
O95450	ATS2_HUMAN	1177	P	S	Polymorphism	-
O95450	ATS2_HUMAN	827	R	Q	Polymorphism	-
O95452	CXB6_HUMAN	5	T	M	Disease	Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643]
O95452	CXB6_HUMAN	59	G	R	Unclassified	-
O95452	CXB6_HUMAN	37	V	E	Disease	Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]
O95452	CXB6_HUMAN	139	S	G	Polymorphism	-
O95452	CXB6_HUMAN	159	N	S	Polymorphism	-
O95452	CXB6_HUMAN	199	S	T	Polymorphism	-
O95452	CXB6_HUMAN	11	G	R	Disease	Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]
O95452	CXB6_HUMAN	88	A	V	Disease	Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]
O95453	PARN_HUMAN	383	A	V	Disease	Dyskeratosis congenita, autosomal recessive, 6 (DKCB6) [MIM:616353]
O95453	PARN_HUMAN	421	K	R	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 4 (PFBMFT4) [MIM:616371]
O95455	TGDS_HUMAN	90	E	G	Disease	Catel-Manzke syndrome (CATMANS) [MIM:616145]
O95455	TGDS_HUMAN	100	A	S	Disease	Catel-Manzke syndrome (CATMANS) [MIM:616145]
O95455	TGDS_HUMAN	298	N	D	Disease	Catel-Manzke syndrome (CATMANS) [MIM:616145]
O95455	TGDS_HUMAN	98	F	L	Disease	Catel-Manzke syndrome (CATMANS) [MIM:616145]
O95455	TGDS_HUMAN	234	Y	H	Disease	Catel-Manzke syndrome (CATMANS) [MIM:616145]
O95455	TGDS_HUMAN	15	G	S	Polymorphism	-
O95456	PSMG1_HUMAN	166	I	V	Polymorphism	-
O95460	MATN4_HUMAN	164	R	S	Polymorphism	-
O95460	MATN4_HUMAN	13	L	F	Polymorphism	-
O95461	LARG1_HUMAN	495	W	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154]
O95461	LARG1_HUMAN	331	S	F	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154]
O95461	LARG1_HUMAN	68	R	P	Polymorphism	-
O95461	LARG1_HUMAN	68	R	G	Polymorphism	-
O95461	LARG1_HUMAN	665	R	H	Polymorphism	-
O95461	LARG1_HUMAN	443	C	Y	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154]
O95461	LARG1_HUMAN	509	E	K	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6) [MIM:608840]
O95470	SGPL1_HUMAN	416	Y	C	Unclassified	Nephrotic syndrome 14 (NPHS14) [MIM:617575]
O95470	SGPL1_HUMAN	222	R	W	Disease	Nephrotic syndrome 14 (NPHS14) [MIM:617575]
O95470	SGPL1_HUMAN	340	R	W	Unclassified	Nephrotic syndrome 14 (NPHS14) [MIM:617575]
O95470	SGPL1_HUMAN	346	S	I	Polymorphism	-
O95470	SGPL1_HUMAN	222	R	Q	Disease	Nephrotic syndrome 14 (NPHS14) [MIM:617575]
O95470	SGPL1_HUMAN	184	I	T	Disease	-
O95470	SGPL1_HUMAN	21	V	L	Polymorphism	-
O95471	CLD7_HUMAN	133	A	T	Polymorphism	-
O95471	CLD7_HUMAN	197	V	A	Polymorphism	-
O95473	SNG4_HUMAN	27	R	W	Polymorphism	-
O95475	SIX6_HUMAN	165	T	A	Unclassified	-
O95475	SIX6_HUMAN	141	H	N	Polymorphism	-
O95476	CNEP1_HUMAN	12	T	A	Polymorphism	-
O95477	ABCA1_HUMAN	482	Y	C	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1068	R	C	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	587	R	W	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1925	R	Q	Polymorphism	-
O95477	ABCA1_HUMAN	496	R	W	Polymorphism	-
O95477	ABCA1_HUMAN	935	N	S	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	840	W	R	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	401	K	Q	Polymorphism	-
O95477	ABCA1_HUMAN	774	T	S	Polymorphism	-
O95477	ABCA1_HUMAN	1376	S	G	Polymorphism	-
O95477	ABCA1_HUMAN	1379	L	F	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	230	R	C	Polymorphism	-
O95477	ABCA1_HUMAN	399	V	A	Polymorphism	-
O95477	ABCA1_HUMAN	219	R	K	Polymorphism	-
O95477	ABCA1_HUMAN	1506	S	L	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1851	R	Q	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1704	V	D	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	364	S	C	Polymorphism	-
O95477	ABCA1_HUMAN	1065	P	S	Polymorphism	-
O95477	ABCA1_HUMAN	825	V	I	Polymorphism	-
O95477	ABCA1_HUMAN	1800	N	H	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1555	I	T	Polymorphism	-
O95477	ABCA1_HUMAN	2163	F	S	Unclassified	-
O95477	ABCA1_HUMAN	1615	R	Q	Polymorphism	-
O95477	ABCA1_HUMAN	1680	R	Q	Polymorphism	-
O95477	ABCA1_HUMAN	1477	C	R	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1611	N	D	Disease	-
O95477	ABCA1_HUMAN	1172	E	D	Polymorphism	-
O95477	ABCA1_HUMAN	1587	K	R	Polymorphism	-
O95477	ABCA1_HUMAN	1341	R	T	Polymorphism	-
O95477	ABCA1_HUMAN	937	A	V	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	774	T	P	Polymorphism	-
O95477	ABCA1_HUMAN	597	Q	R	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	255	A	T	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1897	R	W	Unclassified	High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
O95477	ABCA1_HUMAN	590	W	S	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	2196	Q	H	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1670	A	T	Polymorphism	-
O95477	ABCA1_HUMAN	2081	R	W	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1046	A	D	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	929	T	I	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1091	M	T	Disease	High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
O95477	ABCA1_HUMAN	771	V	M	Polymorphism	-
O95477	ABCA1_HUMAN	638	R	Q	Polymorphism	-
O95477	ABCA1_HUMAN	284	E	K	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1289	D	N	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1901	R	S	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	2168	L	P	Polymorphism	-
O95477	ABCA1_HUMAN	883	I	M	Polymorphism	-
O95477	ABCA1_HUMAN	935	N	H	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1099	D	Y	Disease	High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
O95477	ABCA1_HUMAN	776	K	N	Polymorphism	-
O95477	ABCA1_HUMAN	1680	R	W	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	917	D	Y	Unclassified	A colorectal cancer sample
O95477	ABCA1_HUMAN	2109	A	T	Unclassified	A colorectal cancer sample
O95477	ABCA1_HUMAN	590	W	L	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	85	P	L	Disease	High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
O95477	ABCA1_HUMAN	248	P	A	Polymorphism	-
O95477	ABCA1_HUMAN	2009	F	S	Disease	High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
O95477	ABCA1_HUMAN	2150	P	L	Disease	High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
O95477	ABCA1_HUMAN	1407	A	T	Unclassified	A colorectal cancer sample
O95477	ABCA1_HUMAN	1181	S	F	Polymorphism	-
O95477	ABCA1_HUMAN	1731	S	C	Polymorphism	-
O95477	ABCA1_HUMAN	2243	D	E	Polymorphism	-
O95477	ABCA1_HUMAN	815	E	G	Polymorphism	-
O95477	ABCA1_HUMAN	210	E	D	Unclassified	A colorectal cancer sample
O95477	ABCA1_HUMAN	1054	V	I	Polymorphism	-
O95477	ABCA1_HUMAN	2244	V	I	Polymorphism	-
O95477	ABCA1_HUMAN	1517	I	R	Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
O95477	ABCA1_HUMAN	1648	L	P	Polymorphism	-
O95477	ABCA1_HUMAN	1216	G	V	Polymorphism	-
O95478	NSA2_HUMAN	11	R	C	Polymorphism	-
O95479	G6PE_HUMAN	146	P	L	Disease	Cortisone reductase deficiency 1 (CORTRD1) [MIM:604931]
O95479	G6PE_HUMAN	218	R	Q	Polymorphism	-
O95479	G6PE_HUMAN	151	D	A	Polymorphism	-
O95479	G6PE_HUMAN	453	R	Q	Disease	Cortisone reductase deficiency 1 (CORTRD1) [MIM:604931]
O95479	G6PE_HUMAN	554	P	L	Polymorphism	-
O95479	G6PE_HUMAN	484	N	D	Polymorphism	-
O95486	SC24A_HUMAN	396	T	M	Polymorphism	-
O95486	SC24A_HUMAN	261	S	G	Polymorphism	-
O95486	SC24A_HUMAN	302	T	I	Polymorphism	-
O95487	SC24B_HUMAN	456	A	G	Polymorphism	-
O95490	AGRL2_HUMAN	467	R	T	Unclassified	-
O95497	VNN1_HUMAN	131	N	S	Polymorphism	-
O95497	VNN1_HUMAN	146	D	N	Polymorphism	-
O95497	VNN1_HUMAN	26	T	I	Polymorphism	-
O95497	VNN1_HUMAN	136	V	L	Polymorphism	-
O95497	VNN1_HUMAN	296	E	D	Polymorphism	-
O95497	VNN1_HUMAN	325	A	E	Polymorphism	-
O95497	VNN1_HUMAN	373	I	T	Polymorphism	-
O95497	VNN1_HUMAN	336	T	A	Polymorphism	-
O95497	VNN1_HUMAN	63	A	T	Polymorphism	-
O95498	VNN2_HUMAN	404	L	M	Polymorphism	-
O95498	VNN2_HUMAN	241	V	I	Polymorphism	-
O95498	VNN2_HUMAN	112	D	E	Polymorphism	-
O95498	VNN2_HUMAN	17	T	N	Polymorphism	-
O95498	VNN2_HUMAN	30	V	A	Polymorphism	-
O95498	VNN2_HUMAN	349	T	S	Polymorphism	-
O95500	CLD14_HUMAN	85	V	D	Disease	Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]
O95500	CLD14_HUMAN	232	G	R	Disease	Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]
O95500	CLD14_HUMAN	4	T	M	Polymorphism	-
O95500	CLD14_HUMAN	94	A	V	Disease	Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]
O95500	CLD14_HUMAN	86	I	V	Polymorphism	-
O95500	CLD14_HUMAN	87	S	I	Disease	Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]
O95500	CLD14_HUMAN	81	R	H	Disease	Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]
O95521	PRAM1_HUMAN	213	R	H	Polymorphism	-
O95521	PRAM1_HUMAN	302	Y	C	Polymorphism	-
O95521	PRAM1_HUMAN	204	L	M	Polymorphism	-
O95521	PRAM1_HUMAN	218	P	S	Polymorphism	-
O95521	PRAM1_HUMAN	372	G	A	Polymorphism	-
O95521	PRAM1_HUMAN	252	E	Q	Polymorphism	-
O95521	PRAM1_HUMAN	386	R	S	Polymorphism	-
O95522	PRA12_HUMAN	53	T	K	Polymorphism	-
O95522	PRA12_HUMAN	157	T	M	Polymorphism	-
O95528	GTR10_HUMAN	426	G	W	Disease	Arterial tortuosity syndrome (ATORS) [MIM:208050]
O95528	GTR10_HUMAN	518	T	A	Polymorphism	-
O95528	GTR10_HUMAN	246	G	E	Disease	Arterial tortuosity syndrome (ATORS) [MIM:208050]
O95528	GTR10_HUMAN	231	R	Q	Disease	Arterial tortuosity syndrome (ATORS) [MIM:208050]
O95528	GTR10_HUMAN	437	E	K	Disease	Arterial tortuosity syndrome (ATORS) [MIM:208050]
O95528	GTR10_HUMAN	445	G	E	Disease	Arterial tortuosity syndrome (ATORS) [MIM:208050]
O95528	GTR10_HUMAN	106	A	S	Polymorphism	-
O95528	GTR10_HUMAN	206	A	T	Polymorphism	-
O95528	GTR10_HUMAN	132	R	W	Disease	Arterial tortuosity syndrome (ATORS) [MIM:208050]
O95528	GTR10_HUMAN	81	S	R	Disease	Arterial tortuosity syndrome (ATORS) [MIM:208050]
O95528	GTR10_HUMAN	537	I	V	Polymorphism	-
O95528	GTR10_HUMAN	142	G	V	Disease	Arterial tortuosity syndrome (ATORS) [MIM:208050]
O95528	GTR10_HUMAN	225	R	H	Polymorphism	-
O95544	NADK_HUMAN	262	N	K	Polymorphism	-
O95551	TYDP2_HUMAN	268	R	Q	Polymorphism	-
O95551	TYDP2_HUMAN	249	Q	E	Polymorphism	-
O95551	TYDP2_HUMAN	166	S	G	Polymorphism	-
O95551	TYDP2_HUMAN	307	I	V	Polymorphism	-
O95561	CA105_HUMAN	97	M	V	Polymorphism	-
O95561	CA105_HUMAN	137	S	N	Polymorphism	-
O95567	CV031_HUMAN	210	T	R	Polymorphism	-
O95567	CV031_HUMAN	46	C	R	Polymorphism	-
O95568	MET18_HUMAN	10	E	D	Polymorphism	-
O95568	MET18_HUMAN	360	K	M	Polymorphism	-
O95568	MET18_HUMAN	325	A	V	Polymorphism	-
O95568	MET18_HUMAN	318	R	H	Polymorphism	-
O95568	MET18_HUMAN	309	F	L	Polymorphism	-
O95571	ETHE1_HUMAN	55	L	P	Disease	Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571	ETHE1_HUMAN	152	T	I	Disease	Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571	ETHE1_HUMAN	163	R	Q	Disease	Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571	ETHE1_HUMAN	136	T	A	Disease	Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571	ETHE1_HUMAN	38	Y	C	Disease	Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571	ETHE1_HUMAN	163	R	W	Disease	Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571	ETHE1_HUMAN	196	D	N	Disease	Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571	ETHE1_HUMAN	185	L	R	Disease	Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571	ETHE1_HUMAN	164	T	K	Disease	Ethylmalonic encephalopathy (EE) [MIM:602473]
O95573	ACSL3_HUMAN	551	F	S	Polymorphism	-
O95602	RPA1_HUMAN	349	Q	E	Polymorphism	-
O95602	RPA1_HUMAN	150	P	A	Polymorphism	-
O95602	RPA1_HUMAN	396	S	N	Polymorphism	-
O95602	RPA1_HUMAN	364	K	E	Polymorphism	-
O95602	RPA1_HUMAN	815	I	V	Polymorphism	-
O95602	RPA1_HUMAN	593	E	Q	Disease	Acrofacial dysostosis, Cincinnati type (AFDCIN) [MIM:616462]
O95602	RPA1_HUMAN	1141	A	T	Polymorphism	-
O95602	RPA1_HUMAN	1608	I	M	Polymorphism	-
O95602	RPA1_HUMAN	1299	V	F	Disease	Acrofacial dysostosis, Cincinnati type (AFDCIN) [MIM:616462]
O95613	PCNT_HUMAN	2424	R	Q	Polymorphism	-
O95613	PCNT_HUMAN	539	T	I	Polymorphism	-
O95613	PCNT_HUMAN	2549	A	T	Polymorphism	-
O95613	PCNT_HUMAN	2753	R	H	Polymorphism	-
O95613	PCNT_HUMAN	2625	R	Q	Polymorphism	-
O95613	PCNT_HUMAN	1194	A	T	Polymorphism	-
O95613	PCNT_HUMAN	2361	Q	R	Polymorphism	-
O95613	PCNT_HUMAN	2659	Q	H	Polymorphism	-
O95613	PCNT_HUMAN	1163	R	C	Polymorphism	-
O95613	PCNT_HUMAN	3245	R	S	Polymorphism	-
O95613	PCNT_HUMAN	3091	S	G	Polymorphism	-
O95613	PCNT_HUMAN	2125	H	P	Polymorphism	-
O95613	PCNT_HUMAN	1953	R	H	Polymorphism	-
O95613	PCNT_HUMAN	2239	W	R	Polymorphism	-
O95613	PCNT_HUMAN	2903	A	T	Polymorphism	-
O95613	PCNT_HUMAN	2329	P	R	Polymorphism	-
O95613	PCNT_HUMAN	2975	L	P	Polymorphism	-
O95613	PCNT_HUMAN	1639	I	V	Polymorphism	-
O95613	PCNT_HUMAN	2792	Q	R	Polymorphism	-
O95613	PCNT_HUMAN	1960	R	Q	Polymorphism	-
O95613	PCNT_HUMAN	1452	G	R	Polymorphism	-
O95613	PCNT_HUMAN	2274	P	L	Polymorphism	-
O95613	PCNT_HUMAN	879	T	A	Polymorphism	-
O95613	PCNT_HUMAN	2191	S	P	Polymorphism	-
O95613	PCNT_HUMAN	1038	V	A	Polymorphism	-
O95613	PCNT_HUMAN	2097	L	P	Polymorphism	-
O95613	PCNT_HUMAN	1841	N	S	Polymorphism	-
O95613	PCNT_HUMAN	2188	M	R	Polymorphism	-
O95613	PCNT_HUMAN	704	G	E	Polymorphism	-
O95620	DUS4L_HUMAN	230	R	Q	Polymorphism	-
O95620	DUS4L_HUMAN	178	T	A	Polymorphism	-
O95622	ADCY5_HUMAN	726	A	T	Disease	Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]
O95622	ADCY5_HUMAN	418	R	W	Disease	Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]
O95625	ZBT11_HUMAN	44	G	S	Polymorphism	-
O95625	ZBT11_HUMAN	880	H	Q	Disease	-
O95625	ZBT11_HUMAN	350	T	N	Polymorphism	-
O95626	AN32D_HUMAN	46	L	F	Polymorphism	-
O95628	CNOT4_HUMAN	7	A	G	Polymorphism	-
O95630	STABP_HUMAN	100	F	Y	Disease	Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261]
O95630	STABP_HUMAN	42	E	G	Disease	Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261]
O95630	STABP_HUMAN	63	Y	C	Disease	Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261]
O95630	STABP_HUMAN	313	T	I	Disease	Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261]
O95630	STABP_HUMAN	14	R	P	Disease	Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261]
O95630	STABP_HUMAN	38	R	C	Disease	Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261]
O95631	NET1_HUMAN	351	R	H	Polymorphism	-
O95631	NET1_HUMAN	489	K	E	Unclassified	-
O95644	NFAC1_HUMAN	751	C	G	Polymorphism	-
O95644	NFAC1_HUMAN	68	P	T	Polymorphism	-
O95644	NFAC1_HUMAN	315	A	T	Unclassified	A colorectal cancer sample
O95665	NTR2_HUMAN	282	R	K	Polymorphism	-
O95665	NTR2_HUMAN	54	A	V	Polymorphism	-
O95671	ASML_HUMAN	458	V	M	Polymorphism	-
O95671	ASML_HUMAN	541	R	K	Polymorphism	-
O95672	ECEL1_HUMAN	607	G	S	Disease	Arthrogryposis, distal, 5D (DA5D) [MIM:615065]
O95672	ECEL1_HUMAN	404	R	C	Disease	Arthrogryposis, distal, 5D (DA5D) [MIM:615065]
O95672	ECEL1_HUMAN	328	H	Y	Polymorphism	-
O95672	ECEL1_HUMAN	760	C	R	Disease	Arthrogryposis, distal, 5D (DA5D) [MIM:615065]
O95672	ECEL1_HUMAN	418	R	S	Disease	Arthrogryposis, distal, 5D (DA5D) [MIM:615065]
O95672	ECEL1_HUMAN	10	H	Q	Polymorphism	-
O95677	EYA4_HUMAN	171	G	R	Disease	Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316]
O95677	EYA4_HUMAN	152	L	R	Unclassified	A colorectal cancer sample
O95677	EYA4_HUMAN	277	G	S	Polymorphism	-
O95677	EYA4_HUMAN	301	D	N	Unclassified	A colorectal cancer sample
O95677	EYA4_HUMAN	548	T	R	Disease	Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316]
O95678	K2C75_HUMAN	209	R	Q	Polymorphism	-
O95678	K2C75_HUMAN	39	R	C	Polymorphism	-
O95678	K2C75_HUMAN	91	R	G	Polymorphism	-
O95678	K2C75_HUMAN	427	M	T	Polymorphism	-
O95678	K2C75_HUMAN	432	R	C	Polymorphism	-
O95678	K2C75_HUMAN	367	I	V	Polymorphism	-
O95678	K2C75_HUMAN	242	E	G	Polymorphism	-
O95678	K2C75_HUMAN	337	E	K	Disease	Loose anagen hair syndrome (LAHS) [MIM:600628]
O95678	K2C75_HUMAN	485	S	R	Polymorphism	-
O95678	K2C75_HUMAN	161	A	T	Polymorphism	-
O95678	K2C75_HUMAN	117	P	A	Polymorphism	-
O95684	FR1OP_HUMAN	190	A	G	Polymorphism	-
O95684	FR1OP_HUMAN	271	K	N	Polymorphism	-
O95696	BRD1_HUMAN	321	A	S	Polymorphism	-
O95696	BRD1_HUMAN	230	V	L	Polymorphism	-
O95696	BRD1_HUMAN	730	A	T	Polymorphism	-
O95696	BRD1_HUMAN	38	R	G	Polymorphism	-
O95704	APBB3_HUMAN	231	C	R	Polymorphism	-
O95704	APBB3_HUMAN	165	G	R	Polymorphism	-
O95711	LY86_HUMAN	160	M	V	Polymorphism	-
O95711	LY86_HUMAN	121	Y	C	Polymorphism	-
O95711	LY86_HUMAN	93	S	P	Polymorphism	-
O95714	HERC2_HUMAN	594	P	L	Disease	Mental retardation, autosomal recessive 38 (MRT38) [MIM:615516]
O95716	RAB3D_HUMAN	64	V	I	Polymorphism	-
O95718	ERR2_HUMAN	347	L	P	Disease	Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]
O95718	ERR2_HUMAN	110	A	V	Disease	Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]
O95718	ERR2_HUMAN	389	T	M	Unclassified	Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]
O95718	ERR2_HUMAN	342	V	L	Disease	Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]
O95718	ERR2_HUMAN	386	P	S	Polymorphism	-
O95718	ERR2_HUMAN	320	L	P	Disease	Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]
O95727	CRTAM_HUMAN	78	A	D	Polymorphism	-
O95727	CRTAM_HUMAN	16	E	A	Polymorphism	-
O95727	CRTAM_HUMAN	173	D	G	Polymorphism	-
O95727	CRTAM_HUMAN	321	K	R	Polymorphism	-
O95727	CRTAM_HUMAN	368	A	G	Polymorphism	-
O95747	OXSR1_HUMAN	433	P	S	Unclassified	A metastatic melanoma sample
O95747	OXSR1_HUMAN	304	T	I	Polymorphism	-
O95747	OXSR1_HUMAN	425	S	T	Polymorphism	-
O95755	RAB36_HUMAN	320	E	K	Polymorphism	-
O95755	RAB36_HUMAN	50	P	L	Polymorphism	-
O95755	RAB36_HUMAN	308	N	D	Polymorphism	-
O95757	HS74L_HUMAN	211	L	S	Polymorphism	-
O95757	HS74L_HUMAN	216	N	T	Polymorphism	-
O95757	HS74L_HUMAN	601	I	T	Polymorphism	-
O95759	TBCD8_HUMAN	1108	M	V	Polymorphism	-
O95759	TBCD8_HUMAN	954	G	R	Polymorphism	-
O95759	TBCD8_HUMAN	317	T	A	Polymorphism	-
O95759	TBCD8_HUMAN	1073	F	L	Polymorphism	-
O95759	TBCD8_HUMAN	1079	R	G	Polymorphism	-
O95760	IL33_HUMAN	263	I	M	Polymorphism	-
O95780	ZN682_HUMAN	65	V	M	Polymorphism	-
O95780	ZN682_HUMAN	450	V	I	Polymorphism	-
O95780	ZN682_HUMAN	209	T	I	Polymorphism	-
O95782	AP2A1_HUMAN	270	P	L	Polymorphism	-
O95786	DDX58_HUMAN	580	D	E	Polymorphism	-
O95786	DDX58_HUMAN	7	R	C	Polymorphism	-
O95786	DDX58_HUMAN	373	E	A	Disease	Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298]
O95786	DDX58_HUMAN	268	C	F	Disease	Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298]
O95789	ZMYM6_HUMAN	1233	E	K	Polymorphism	-
O95789	ZMYM6_HUMAN	660	K	R	Polymorphism	-
O95800	GPR75_HUMAN	78	N	K	Unclassified	-
O95800	GPR75_HUMAN	160	C	G	Polymorphism	-
O95800	GPR75_HUMAN	433	L	V	Polymorphism	-
O95800	GPR75_HUMAN	135	T	P	Unclassified	-
O95800	GPR75_HUMAN	99	P	L	Unclassified	-
O95800	GPR75_HUMAN	116	A	T	Polymorphism	-
O95800	GPR75_HUMAN	108	S	T	Unclassified	-
O95801	TTC4_HUMAN	47	S	T	Polymorphism	-
O95803	NDST3_HUMAN	264	H	Q	Unclassified	A colorectal cancer sample
O95807	TM50A_HUMAN	141	F	L	Polymorphism	-
O95807	TM50A_HUMAN	58	A	V	Polymorphism	-
O95810	CAVN2_HUMAN	130	E	D	Polymorphism	-
O95813	CER1_HUMAN	65	A	G	Polymorphism	-
O95813	CER1_HUMAN	19	R	W	Polymorphism	-
O95813	CER1_HUMAN	179	V	I	Polymorphism	-
O95817	BAG3_HUMAN	209	P	L	Disease	Myopathy, myofibrillar, 6 (MFM6) [MIM:612954]
O95817	BAG3_HUMAN	405	A	V	Polymorphism	-
O95817	BAG3_HUMAN	407	P	L	Polymorphism	-
O95817	BAG3_HUMAN	151	C	R	Polymorphism	-
O95817	BAG3_HUMAN	468	V	M	Disease	Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O95817	BAG3_HUMAN	71	R	W	Disease	Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O95817	BAG3_HUMAN	115	P	S	Polymorphism	-
O95817	BAG3_HUMAN	477	R	H	Disease	Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O95817	BAG3_HUMAN	71	R	Q	Polymorphism	-
O95817	BAG3_HUMAN	462	L	P	Disease	Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O95817	BAG3_HUMAN	300	D	N	Polymorphism	-
O95817	BAG3_HUMAN	94	I	F	Polymorphism	-
O95817	BAG3_HUMAN	380	P	S	Polymorphism	-
O95817	BAG3_HUMAN	258	R	W	Polymorphism	-
O95817	BAG3_HUMAN	155	A	T	Polymorphism	-
O95817	BAG3_HUMAN	218	R	W	Disease	Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O95817	BAG3_HUMAN	455	E	K	Disease	Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O95817	BAG3_HUMAN	77	P	L	Polymorphism	-
O95817	BAG3_HUMAN	553	E	D	Polymorphism	-
O95819	M4K4_HUMAN	712	S	T	Polymorphism	-
O95825	QORL1_HUMAN	39	A	T	Polymorphism	-
O95831	AIFM1_HUMAN	498	V	M	Unclassified	Deafness, X-linked, 5 (DFNX5) [MIM:300614]
O95831	AIFM1_HUMAN	493	E	V	Disease	Cowchock syndrome (COWCK) [MIM:310490]
O95831	AIFM1_HUMAN	422	R	W	Disease	Deafness, X-linked, 5 (DFNX5) [MIM:300614]
O95831	AIFM1_HUMAN	451	R	Q	Disease	Deafness, X-linked, 5 (DFNX5) [MIM:300614]
O95831	AIFM1_HUMAN	243	V	L	Disease	-
O95831	AIFM1_HUMAN	308	G	E	Disease	Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816]
O95831	AIFM1_HUMAN	430	R	C	Unclassified	Deafness, X-linked, 5 (DFNX5) [MIM:300614]
O95831	AIFM1_HUMAN	344	L	F	Unclassified	Deafness, X-linked, 5 (DFNX5) [MIM:300614]
O95831	AIFM1_HUMAN	422	R	Q	Disease	Deafness, X-linked, 5 (DFNX5) [MIM:300614]
O95831	AIFM1_HUMAN	591	I	M	Unclassified	Deafness, X-linked, 5 (DFNX5) [MIM:300614]
O95831	AIFM1_HUMAN	260	T	A	Disease	Deafness, X-linked, 5 (DFNX5) [MIM:300614]
O95831	AIFM1_HUMAN	472	A	V	Unclassified	Deafness, X-linked, 5 (DFNX5) [MIM:300614]
O95831	AIFM1_HUMAN	360	G	R	Unclassified	Deafness, X-linked, 5 (DFNX5) [MIM:300614]
O95831	AIFM1_HUMAN	475	P	L	Unclassified	Deafness, X-linked, 5 (DFNX5) [MIM:300614]
O95833	CLIC3_HUMAN	38	P	H	Polymorphism	-
O95834	EMAL2_HUMAN	484	V	L	Unclassified	A colorectal cancer sample
O95834	EMAL2_HUMAN	357	R	H	Polymorphism	-
O95834	EMAL2_HUMAN	235	E	D	Polymorphism	-
O95834	EMAL2_HUMAN	33	M	V	Polymorphism	-
O95834	EMAL2_HUMAN	187	L	F	Polymorphism	-
O95835	LATS1_HUMAN	237	P	Q	Polymorphism	-
O95835	LATS1_HUMAN	806	R	P	Unclassified	A lung large cell carcinoma sample
O95835	LATS1_HUMAN	96	R	W	Polymorphism	-
O95835	LATS1_HUMAN	370	R	W	Polymorphism	-
O95835	LATS1_HUMAN	204	S	G	Polymorphism	-
O95835	LATS1_HUMAN	641	F	L	Polymorphism	-
O95835	LATS1_HUMAN	1000	G	S	Polymorphism	-
O95835	LATS1_HUMAN	531	P	S	Polymorphism	-
O95835	LATS1_HUMAN	669	M	I	Unclassified	A lung adenocarcinoma sample
O95838	GLP2R_HUMAN	523	R	H	Polymorphism	-
O95838	GLP2R_HUMAN	22	H	L	Polymorphism	-
O95838	GLP2R_HUMAN	470	D	N	Polymorphism	-
O95843	GUC1C_HUMAN	119	A	V	Polymorphism	-
O95843	GUC1C_HUMAN	159	M	V	Polymorphism	-
O95843	GUC1C_HUMAN	72	V	I	Polymorphism	-
O95843	GUC1C_HUMAN	85	M	V	Polymorphism	-
O95847	UCP4_HUMAN	145	A	V	Polymorphism	-
O95847	UCP4_HUMAN	197	I	T	Polymorphism	-
O95859	TSN12_HUMAN	138	Y	C	Disease	Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310]
O95859	TSN12_HUMAN	101	L	H	Disease	Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310]
O95859	TSN12_HUMAN	188	G	R	Disease	Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310]
O95859	TSN12_HUMAN	223	L	P	Disease	Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310]
O95859	TSN12_HUMAN	237	A	P	Disease	Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310]
O95859	TSN12_HUMAN	49	T	M	Disease	Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310]
O95859	TSN12_HUMAN	210	M	R	Disease	Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310]
O95859	TSN12_HUMAN	57	L	S	Polymorphism	-
O95863	SNAI1_HUMAN	118	V	A	Polymorphism	-
O95863	SNAI1_HUMAN	66	A	V	Polymorphism	-
O95866	G6B_HUMAN	175	R	G	Polymorphism	-
O95867	LY66C_HUMAN	63	L	M	Polymorphism	-
O95868	LY66D_HUMAN	9	L	V	Polymorphism	-
O95868	LY66D_HUMAN	34	S	T	Polymorphism	-
O95872	GPAN1_HUMAN	112	A	V	Polymorphism	-
O95872	GPAN1_HUMAN	210	S	A	Polymorphism	-
O95872	GPAN1_HUMAN	314	T	N	Unclassified	-
O95872	GPAN1_HUMAN	41	R	L	Polymorphism	-
O95872	GPAN1_HUMAN	235	A	V	Polymorphism	-
O95873	CF047_HUMAN	92	K	N	Polymorphism	-
O95873	CF047_HUMAN	68	G	R	Polymorphism	-
O95876	FRITZ_HUMAN	708	S	F	Polymorphism	-
O95876	FRITZ_HUMAN	54	D	N	Disease	Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP) [MIM:217085]
O95876	FRITZ_HUMAN	55	R	K	Polymorphism	-
O95876	FRITZ_HUMAN	205	L	F	Unclassified	-
O95876	FRITZ_HUMAN	268	G	S	Polymorphism	-
O95886	DLGP3_HUMAN	763	T	P	Polymorphism	-
O95897	NOE2_HUMAN	86	T	M	Unclassified	A colorectal cancer sample
O95897	NOE2_HUMAN	127	T	M	Polymorphism	-
O95897	NOE2_HUMAN	106	R	Q	Polymorphism	-
O95900	TRUB2_HUMAN	79	P	L	Polymorphism	-
O95900	TRUB2_HUMAN	93	V	L	Polymorphism	-
O95900	TRUB2_HUMAN	209	T	S	Polymorphism	-
O95905	ECD_HUMAN	281	R	G	Polymorphism	-
O95905	ECD_HUMAN	452	E	Q	Polymorphism	-
O95905	ECD_HUMAN	634	D	G	Polymorphism	-
O95905	ECD_HUMAN	501	N	S	Polymorphism	-
O95905	ECD_HUMAN	45	R	Q	Polymorphism	-
O95907	MOT3_HUMAN	235	R	W	Polymorphism	-
O95907	MOT3_HUMAN	405	V	A	Polymorphism	-
O95918	OR2H2_HUMAN	220	T	A	Polymorphism	-
O95918	OR2H2_HUMAN	48	A	V	Polymorphism	-
O95918	OR2H2_HUMAN	30	L	F	Polymorphism	-
O95918	OR2H2_HUMAN	30	L	S	Polymorphism	-
O95918	OR2H2_HUMAN	30	L	I	Polymorphism	-
O95918	OR2H2_HUMAN	38	V	M	Polymorphism	-
O95922	TTLL1_HUMAN	168	S	L	Polymorphism	-
O95925	EPPI_HUMAN	128	K	T	Polymorphism	-
O95925	EPPI_HUMAN	92	H	R	Polymorphism	-
O95926	SYF2_HUMAN	89	A	V	Polymorphism	-
O95932	TGM3L_HUMAN	426	T	N	Disease	Spinocerebellar ataxia 35 (SCA35) [MIM:613908]
O95932	TGM3L_HUMAN	517	L	W	Disease	Spinocerebellar ataxia 35 (SCA35) [MIM:613908]
O95932	TGM3L_HUMAN	111	R	C	Disease	Spinocerebellar ataxia 35 (SCA35) [MIM:613908]
O95932	TGM3L_HUMAN	58	M	V	Polymorphism	-
O95932	TGM3L_HUMAN	327	D	G	Disease	Spinocerebellar ataxia 35 (SCA35) [MIM:613908]
O95932	TGM3L_HUMAN	510	D	H	Disease	Spinocerebellar ataxia 35 (SCA35) [MIM:613908]
O95935	TBX18_HUMAN	48	G	R	Polymorphism	-
O95935	TBX18_HUMAN	524	H	Y	Disease	Congenital anomalies of kidney and urinary tract 2 (CAKUT2) [MIM:143400]
O95935	TBX18_HUMAN	164	A	T	Polymorphism	-
O95935	TBX18_HUMAN	163	K	E	Disease	Congenital anomalies of kidney and urinary tract 2 (CAKUT2) [MIM:143400]
O95935	TBX18_HUMAN	526	P	S	Polymorphism	-
O95936	EOMES_HUMAN	120	A	G	Polymorphism	-
O95936	EOMES_HUMAN	667	E	Q	Unclassified	A breast cancer sample
O95944	NCTR2_HUMAN	223	M	V	Polymorphism	-
O95944	NCTR2_HUMAN	75	M	V	Polymorphism	-
O95944	NCTR2_HUMAN	139	S	P	Polymorphism	-
O95944	NCTR2_HUMAN	218	I	K	Polymorphism	-
O95947	TBX6_HUMAN	150	R	C	Unclassified	-
O95947	TBX6_HUMAN	162	G	S	Polymorphism	-
O95947	TBX6_HUMAN	145	P	L	Unclassified	Spondylocostal dysostosis 5 (SCDO5) [MIM:122600]
O95947	TBX6_HUMAN	111	M	I	Unclassified	-
O95947	TBX6_HUMAN	178	S	F	Polymorphism	-
O95947	TBX6_HUMAN	179	P	S	Polymorphism	-
O95954	FTCD_HUMAN	135	R	C	Disease	Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]
O95954	FTCD_HUMAN	438	A	E	Polymorphism	-
O95954	FTCD_HUMAN	299	R	P	Disease	Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]
O95965	ITGBL_HUMAN	154	A	S	Polymorphism	-
O95967	FBLN4_HUMAN	279	R	C	Disease	Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437]
O95967	FBLN4_HUMAN	259	I	V	Polymorphism	-
O95967	FBLN4_HUMAN	57	E	K	Disease	Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437]
O95967	FBLN4_HUMAN	267	C	Y	Disease	Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437]
O95969	SG1D2_HUMAN	80	V	A	Polymorphism	-
O95969	SG1D2_HUMAN	53	P	L	Polymorphism	-
O95970	LGI1_HUMAN	123	E	K	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	232	L	P	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	136	R	W	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	145	S	R	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	318	F	C	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	200	C	R	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	110	A	D	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	432	V	E	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	298	I	T	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	383	E	A	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	26	L	R	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	42	C	R	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	154	L	P	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	122	I	K	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	473	S	L	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	42	C	G	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95970	LGI1_HUMAN	46	C	R	Disease	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]
O95971	BY55_HUMAN	91	I	V	Polymorphism	-
O95972	BMP15_HUMAN	243	I	V	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	76	R	C	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	329	R	C	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	138	R	H	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	76	R	H	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	180	A	F	Unclassified	-
O95972	BMP15_HUMAN	61	R	Q	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	68	R	W	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	221	W	R	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	206	R	H	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	61	R	W	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	180	A	T	Unclassified	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	5	S	R	Polymorphism	-
O95972	BMP15_HUMAN	196	N	K	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	200	H	Y	Polymorphism	-
O95972	BMP15_HUMAN	148	L	P	Disease	Premature ovarian failure 4 (POF4) [MIM:300510]
O95972	BMP15_HUMAN	103	N	S	Polymorphism	-
O95972	BMP15_HUMAN	235	Y	C	Disease	Ovarian dysgenesis 2 (ODG2) [MIM:300510]
O95976	IGSF6_HUMAN	186	N	K	Polymorphism	-
O95976	IGSF6_HUMAN	74	Q	R	Polymorphism	-
O95976	IGSF6_HUMAN	173	F	S	Polymorphism	-
O95977	S1PR4_HUMAN	365	R	L	Polymorphism	-
O95980	RECK_HUMAN	275	V	I	Polymorphism	-
O95985	TOP3B_HUMAN	365	D	N	Polymorphism	-
O95988	TCL1B_HUMAN	93	G	R	Polymorphism	-
O95990	F107A_HUMAN	19	P	L	Unclassified	Renal cell carcinoma cell line
O95990	F107A_HUMAN	141	E	Q	Polymorphism	-
O95990	F107A_HUMAN	15	L	M	Unclassified	Renal cell carcinoma cell lines
O95990	F107A_HUMAN	89	A	S	Polymorphism	-
O95990	F107A_HUMAN	15	L	M	Unclassified	Ovarian cancer
O95992	CH25H_HUMAN	133	L	P	Polymorphism	-
O95995	DRC4_HUMAN	259	R	Q	Polymorphism	-
O95995	DRC4_HUMAN	199	E	K	Polymorphism	-
O95995	DRC4_HUMAN	391	A	V	Disease	Ciliary dyskinesia, primary, 33 (CILD33) [MIM:616726]
O95996	APCL_HUMAN	2241	S	A	Polymorphism	-
O95996	APCL_HUMAN	1921	H	N	Polymorphism	-
O95996	APCL_HUMAN	2003	G	S	Unclassified	A breast cancer sample
O95996	APCL_HUMAN	562	A	S	Unclassified	A breast cancer sample
O95998	I18BP_HUMAN	121	R	Q	Polymorphism	-
O95998	I18BP_HUMAN	91	R	H	Polymorphism	-
O95999	BCL10_HUMAN	93	N	S	Polymorphism	-
O95999	BCL10_HUMAN	101	D	E	Unclassified	-
O95999	BCL10_HUMAN	153	M	V	Polymorphism	-
O95999	BCL10_HUMAN	218	S	F	Unclassified	-
O95999	BCL10_HUMAN	162	T	M	Polymorphism	-
O95999	BCL10_HUMAN	213	G	E	Unclassified	-
O95999	BCL10_HUMAN	64	R	K	Unclassified	-
O95999	BCL10_HUMAN	174	L	S	Unclassified	-
O95999	BCL10_HUMAN	58	R	G	Unclassified	-
O95999	BCL10_HUMAN	134	S	P	Unclassified	-
O95999	BCL10_HUMAN	16	V	E	Unclassified	-
O95999	BCL10_HUMAN	58	R	Q	Polymorphism	-
O95999	BCL10_HUMAN	5	A	S	Unclassified	-
O95999	BCL10_HUMAN	168	T	A	Unclassified	-
O95999	BCL10_HUMAN	230	V	I	Unclassified	-
O95999	BCL10_HUMAN	57	C	R	Unclassified	-
O95999	BCL10_HUMAN	31	K	E	Unclassified	-
O95999	BCL10_HUMAN	45	K	Q	Polymorphism	-
O95999	BCL10_HUMAN	52	T	I	Unclassified	-
O96001	PPR17_HUMAN	10	L	R	Polymorphism	-
O96001	PPR17_HUMAN	12	L	V	Polymorphism	-
O96002	CX001_HUMAN	36	S	A	Polymorphism	-
O96005	CLPT1_HUMAN	478	Y	C	Polymorphism	-
O96007	MOC2B_HUMAN	77	T	A	Polymorphism	-
O96007	MOC2B_HUMAN	50	T	A	Polymorphism	-
O96007	MOC2B_HUMAN	168	E	K	Disease	Molybdenum cofactor deficiency, complementation group B (MOCODB) [MIM:252160]
O96007	MOC2B_HUMAN	123	H	Y	Polymorphism	-
O96007	MOC2B_HUMAN	187	N	S	Polymorphism	-
O96009	NAPSA_HUMAN	310	A	T	Polymorphism	-
O96009	NAPSA_HUMAN	40	I	T	Polymorphism	-
O96013	PAK4_HUMAN	139	A	T	Polymorphism	-
O96013	PAK4_HUMAN	135	R	Q	Polymorphism	-
O96017	CHK2_HUMAN	347	D	N	Polymorphism	-
O96017	CHK2_HUMAN	180	R	C	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	145	R	W	Unclassified	Colon cancer
O96017	CHK2_HUMAN	318	R	H	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	406	R	H	Polymorphism	-
O96017	CHK2_HUMAN	390	Y	C	Disease	Breast cancer (BC) [MIM:114480]
O96017	CHK2_HUMAN	145	R	P	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	239	E	K	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	145	R	W	Disease	Li-Fraumeni syndrome 2 (LFS2) [MIM:609265]
O96017	CHK2_HUMAN	181	R	C	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	157	I	T	Polymorphism	-
O96017	CHK2_HUMAN	85	P	L	Unclassified	An osteogenic sarcoma sample
O96017	CHK2_HUMAN	436	L	M	Polymorphism	-
O96017	CHK2_HUMAN	371	H	Y	Polymorphism	-
O96017	CHK2_HUMAN	428	S	F	Polymorphism	-
O96017	CHK2_HUMAN	181	R	H	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	59	T	K	Unclassified	Multiple cancers
O96017	CHK2_HUMAN	17	A	S	Unclassified	An osteogenic sarcoma sample
O96017	CHK2_HUMAN	180	R	H	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	500	S	C	Polymorphism	-
O96017	CHK2_HUMAN	251	I	F	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	137	R	Q	Polymorphism	-
O96017	CHK2_HUMAN	446	N	K	Polymorphism	-
O96017	CHK2_HUMAN	167	G	R	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	512	L	V	Polymorphism	-
O96017	CHK2_HUMAN	447	F	I	Polymorphism	-
O96017	CHK2_HUMAN	476	T	K	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	501	E	K	Polymorphism	-
O96017	CHK2_HUMAN	327	Y	C	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	323	T	P	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	64	E	K	Disease	Prostate cancer (PC) [MIM:176807]
O96017	CHK2_HUMAN	117	R	G	Polymorphism	-
O96017	CHK2_HUMAN	448	I	S	Polymorphism	-
O96018	APBA3_HUMAN	376	C	R	Polymorphism	-
O96018	APBA3_HUMAN	154	W	L	Polymorphism	-
O96018	APBA3_HUMAN	276	K	T	Polymorphism	-
O96018	APBA3_HUMAN	527	I	F	Polymorphism	-
O96019	ACL6A_HUMAN	227	E	Q	Unclassified	-
O96019	ACL6A_HUMAN	377	R	W	Disease	-
O96020	CCNE2_HUMAN	387	N	S	Polymorphism	-
O96033	MOC2A_HUMAN	7	V	F	Disease	Molybdenum cofactor deficiency, complementation group B (MOCODB) [MIM:252160]
O96033	MOC2A_HUMAN	51	V	A	Polymorphism	-
O97980	HMHB1_HUMAN	16	H	Y	Polymorphism	-
P00156	CYB_HUMAN	80	R	H	Unclassified	Colorectal cancer
P00156	CYB_HUMAN	356	V	M	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P00156	CYB_HUMAN	339	G	E	Unclassified	-
P00156	CYB_HUMAN	78	I	T	Polymorphism	-
P00156	CYB_HUMAN	360	T	A	Polymorphism	-
P00156	CYB_HUMAN	166	G	E	Unclassified	-
P00156	CYB_HUMAN	151	S	P	Polymorphism	-
P00156	CYB_HUMAN	122	A	T	Polymorphism	-
P00156	CYB_HUMAN	236	L	I	Polymorphism	-
P00156	CYB_HUMAN	306	I	T	Polymorphism	-
P00156	CYB_HUMAN	164	I	V	Polymorphism	-
P00156	CYB_HUMAN	191	A	T	Polymorphism	-
P00156	CYB_HUMAN	171	D	N	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P00156	CYB_HUMAN	153	I	T	Polymorphism	-
P00156	CYB_HUMAN	229	A	T	Polymorphism	-
P00156	CYB_HUMAN	7	T	I	Polymorphism	-
P00156	CYB_HUMAN	330	A	T	Polymorphism	-
P00156	CYB_HUMAN	194	T	A	Polymorphism	-
P00156	CYB_HUMAN	278	Y	C	Polymorphism	-
P00156	CYB_HUMAN	123	T	A	Polymorphism	-
P00156	CYB_HUMAN	368	T	I	Polymorphism	-
P00156	CYB_HUMAN	78	I	V	Polymorphism	-
P00156	CYB_HUMAN	353	V	M	Polymorphism	-
P00156	CYB_HUMAN	255	N	H	Unclassified	-
P00156	CYB_HUMAN	18	F	L	Polymorphism	-
P00156	CYB_HUMAN	34	G	S	Polymorphism	-
P00156	CYB_HUMAN	39	A	V	Polymorphism	-
P00156	CYB_HUMAN	35	S	P	Polymorphism	-
P00156	CYB_HUMAN	87	A	P	Polymorphism	-
P00156	CYB_HUMAN	329	A	T	Polymorphism	-
P00156	CYB_HUMAN	316	M	T	Polymorphism	-
P00156	CYB_HUMAN	276	F	L	Unclassified	Colorectal cancer
P00156	CYB_HUMAN	8	N	S	Polymorphism	-
P00156	CYB_HUMAN	334	I	V	Polymorphism	-
P00156	CYB_HUMAN	251	G	S	Polymorphism	-
P00156	CYB_HUMAN	290	G	D	Polymorphism	-
P00156	CYB_HUMAN	39	A	T	Polymorphism	-
P00156	CYB_HUMAN	260	N	D	Polymorphism	-
P00156	CYB_HUMAN	251	G	D	Disease	Cardiomyopathy, infantile histiocytoid (CMIH) [MIM:500000]
P00167	CYB5_HUMAN	44	H	L	Disease	Methemoglobinemia and ambiguous genitalia (METAG) [MIM:250790]
P00325	ADH1B_HUMAN	60	T	S	Polymorphism	-
P00325	ADH1B_HUMAN	57	N	K	Polymorphism	-
P00325	ADH1B_HUMAN	370	R	C	Polymorphism	-
P00325	ADH1B_HUMAN	48	R	H	Polymorphism	-
P00326	ADH1G_HUMAN	272	R	Q	Polymorphism	-
P00326	ADH1G_HUMAN	352	P	T	Polymorphism	-
P00326	ADH1G_HUMAN	166	P	S	Polymorphism	-
P00326	ADH1G_HUMAN	48	R	H	Polymorphism	-
P00326	ADH1G_HUMAN	350	I	V	Polymorphism	-
P00338	LDHA_HUMAN	315	R	C	Polymorphism	-
P00338	LDHA_HUMAN	222	K	E	Polymorphism	-
P00352	AL1A1_HUMAN	125	G	R	Polymorphism	-
P00352	AL1A1_HUMAN	177	I	F	Polymorphism	-
P00352	AL1A1_HUMAN	121	N	S	Polymorphism	-
P00367	DHE3_HUMAN	499	G	S	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	319	Y	C	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	322	R	C	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	501	S	P	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	507	H	Y	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	349	E	A	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	499	G	D	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	274	R	C	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	322	R	H	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	318	R	K	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	318	R	T	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	498	S	L	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367	DHE3_HUMAN	270	S	C	Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00374	DYR_HUMAN	153	D	V	Disease	Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]
P00374	DYR_HUMAN	80	L	F	Disease	Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]
P00387	NB5R3_HUMAN	66	S	P	Polymorphism	-
P00387	NB5R3_HUMAN	58	R	Q	Disease	Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
P00387	NB5R3_HUMAN	204	C	R	Disease	Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
P00387	NB5R3_HUMAN	179	A	V	Disease	Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
P00387	NB5R3_HUMAN	149	L	P	Disease	Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
P00387	NB5R3_HUMAN	204	C	Y	Disease	Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
P00387	NB5R3_HUMAN	73	L	P	Disease	Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
P00387	NB5R3_HUMAN	128	S	P	Disease	Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
P00387	NB5R3_HUMAN	117	T	S	Polymorphism	-
P00387	NB5R3_HUMAN	292	G	D	Disease	Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
P00387	NB5R3_HUMAN	106	V	M	Disease	Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
P00390	GSHR_HUMAN	153	R	C	Polymorphism	-
P00390	GSHR_HUMAN	232	G	S	Polymorphism	-
P00390	GSHR_HUMAN	261	I	V	Polymorphism	-
P00390	GSHR_HUMAN	297	E	D	Polymorphism	-
P00390	GSHR_HUMAN	232	G	R	Polymorphism	-
P00390	GSHR_HUMAN	314	P	H	Polymorphism	-
P00395	COX1_HUMAN	142	S	F	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
P00395	COX1_HUMAN	196	L	I	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
P00395	COX1_HUMAN	235	F	S	Polymorphism	-
P00395	COX1_HUMAN	273	M	T	Polymorphism	-
P00395	COX1_HUMAN	458	S	P	Disease	Colorectal cancer (CRC) [MIM:114500]
P00395	COX1_HUMAN	280	I	T	Polymorphism	-
P00395	COX1_HUMAN	305	F	L	Polymorphism	-
P00395	COX1_HUMAN	415	T	A	Polymorphism	-
P00395	COX1_HUMAN	155	V	L	Polymorphism	-
P00395	COX1_HUMAN	10	T	A	Polymorphism	-
P00395	COX1_HUMAN	125	G	D	Disease	Colorectal cancer (CRC) [MIM:114500]
P00395	COX1_HUMAN	224	G	A	Polymorphism	-
P00395	COX1_HUMAN	94	F	C	Polymorphism	-
P00403	COX2_HUMAN	148	A	T	Polymorphism	-
P00403	COX2_HUMAN	30	I	V	Polymorphism	-
P00403	COX2_HUMAN	11	D	A	Polymorphism	-
P00403	COX2_HUMAN	142	V	M	Unclassified	Colorectal cancer
P00403	COX2_HUMAN	187	T	M	Polymorphism	-
P00403	COX2_HUMAN	123	L	P	Polymorphism	-
P00403	COX2_HUMAN	29	M	K	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
P00414	COX3_HUMAN	200	A	T	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P00414	COX3_HUMAN	254	V	I	Polymorphism	-
P00414	COX3_HUMAN	91	V	I	Polymorphism	-
P00414	COX3_HUMAN	177	Q	R	Polymorphism	-
P00414	COX3_HUMAN	35	F	S	Polymorphism	-
P00414	COX3_HUMAN	251	F	L	Unclassified	-
P00414	COX3_HUMAN	78	G	S	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P00414	COX3_HUMAN	3	H	R	Polymorphism	-
P00439	PH4H_HUMAN	61	N	D	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	247	G	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	246	A	D	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	241	R	H	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	322	A	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	318	I	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	421	I	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	146	H	Y	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	357	C	G	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	45	V	A	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	274	K	E	Polymorphism	-
P00439	PH4H_HUMAN	407	P	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	415	D	N	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	245	V	A	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	415	D	N	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	241	R	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	84	D	Y	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	239	G	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	243	R	Q	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	65	I	V	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	68	R	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	244	P	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	56	E	D	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	290	H	Y	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	241	R	C	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	245	V	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	248	L	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	245	V	A	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	418	T	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	380	T	M	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	348	L	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	252	R	Q	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	170	H	Q	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	252	R	W	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	257	G	C	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	55	F	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	76	E	A	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	240	F	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	344	G	R	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	325	Y	C	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	245	V	A	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	341	K	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	98	L	S	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	386	Y	C	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	345	A	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	252	R	G	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	62	L	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	238	T	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	366	P	H	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	255	L	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	310	S	F	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	341	K	R	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	243	R	Q	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	415	D	N	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	413	R	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	222	D	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	345	A	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	343	Y	C	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	261	R	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	92	T	I	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	87	S	R	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	255	L	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	300	A	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	47	A	V	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	245	V	E	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	330	E	D	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	342	A	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	338	D	Y	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	259	A	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	283	I	N	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	129	D	Y	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	314	P	H	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	167	N	I	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	311	L	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	337	G	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	121	F	L	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	55	F	L	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	241	R	C	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	349	S	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	414	Y	C	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	39	F	L	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	299	F	C	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	347	L	F	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	259	A	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	283	I	F	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	377	Y	C	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	387	Y	H	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	143	D	G	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	157	R	N	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	157	R	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	306	I	V	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	242	L	F	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	362	P	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	275	P	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	67	S	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	297	R	C	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	297	R	H	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	322	A	G	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	394	D	H	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	151	D	H	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	160	Q	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	148	G	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	331	F	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	65	I	N	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	310	S	Y	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	430	L	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	447	A	D	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	20	Q	L	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	309	A	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	226	Q	H	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	388	V	M	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	261	R	Q	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	277	Y	D	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	395	A	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	161	F	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	154	Y	N	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	76	E	G	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	46	G	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	349	S	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	407	P	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	65	I	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	167	N	S	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	388	V	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	300	A	S	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	40	S	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	194	L	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	276	M	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	390	E	G	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	264	H	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	334	C	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	303	S	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	205	E	A	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	110	S	C	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	225	P	R	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	309	A	D	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	414	Y	C	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	270	R	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	261	R	Q	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	16	S	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	201	H	R	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	278	T	N	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	158	R	Q	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	372	T	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	322	A	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	177	V	M	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	42	K	I	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	53	R	H	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	231	S	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	41	L	F	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	300	A	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	403	A	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	408	R	W	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	403	A	V	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	39	F	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	164	I	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	271	H	Y	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	395	A	G	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	48	L	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	225	P	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	249	L	F	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	304	Q	R	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	65	I	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	417	Y	H	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	413	R	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	169	R	H	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	207	N	D	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	413	R	P	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	277	Y	C	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	174	I	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	394	D	A	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	65	I	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	233	F	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	41	L	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	265	C	G	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	273	S	F	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	231	S	F	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	170	H	D	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	218	G	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	206	Y	D	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	201	H	Y	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	281	P	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	170	H	R	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	278	T	A	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	333	L	F	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	263	F	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	230	V	I	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	183	E	Q	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	155	R	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	410	F	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	207	N	S	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	390	E	G	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	211	P	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	224	I	M	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	408	R	W	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	270	R	K	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	176	R	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	158	R	W	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	280	E	K	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	221	E	G	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	196	S	Y	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	314	P	S	Disease	Hyperphenylalaninemia (HPA) [MIM:261600]
P00439	PH4H_HUMAN	174	I	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	171	G	A	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	178	E	G	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	190	V	A	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	212	L	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	350	S	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	269	I	L	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	145	D	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	175	P	A	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	171	G	R	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	204	Y	C	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	177	V	L	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	344	G	V	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	276	M	I	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	173	P	T	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	176	R	L	Disease	Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
P00439	PH4H_HUMAN	217	C	G	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	282	D	N	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	124	T	I	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	104	A	D	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	408	R	Q	Disease	Phenylketonuria (PKU) [MIM:261600]
P00439	PH4H_HUMAN	213	L	P	Disease	Phenylketonuria (PKU) [MIM:261600]
P00441	SODC_HUMAN	145	L	S	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	94	G	V	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	9	L	Q	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	94	G	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	149	V	I	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	5	A	S	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	105	I	F	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	145	L	F	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	98	V	M	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	119	V	L	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	125	D	V	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	106	S	L	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	47	H	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	140	N	K	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	66	N	S	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	113	I	M	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	73	G	S	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	150	I	T	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	94	G	D	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	107	L	V	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	44	H	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	15	V	M	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	7	C	F	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	113	I	T	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	152	I	T	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	91	D	V	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	85	L	V	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	135	S	N	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	109	G	V	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	146	A	T	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	17	G	S	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	149	V	G	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	22	E	K	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	127	L	S	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	8	V	E	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	101	E	K	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	88	V	A	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	90	A	V	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	9	L	V	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	115	G	A	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	49	H	Q	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	114	I	T	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	101	E	G	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	112	C	Y	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	147	C	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	81	H	A	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	102	D	N	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	55	T	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	68	L	P	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	87	N	S	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	126	D	H	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	5	A	V	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	148	G	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	90	A	T	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	42	G	D	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	68	L	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	85	L	F	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	102	D	G	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	77	D	Y	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	15	V	G	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	49	H	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	23	Q	L	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	21	F	C	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	96	A	G	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	116	R	G	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	42	G	S	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	22	E	G	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	13	G	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	94	G	C	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	50	E	K	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	38	G	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	125	D	G	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	86	G	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	46	F	C	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	39	L	R	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	39	L	V	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	5	A	T	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	91	D	A	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00441	SODC_HUMAN	94	G	A	Disease	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
P00450	CERU_HUMAN	477	P	L	Polymorphism	-
P00450	CERU_HUMAN	793	R	H	Polymorphism	-
P00450	CERU_HUMAN	551	T	I	Polymorphism	-
P00450	CERU_HUMAN	367	R	C	Polymorphism	-
P00450	CERU_HUMAN	544	D	E	Polymorphism	-
P00450	CERU_HUMAN	841	T	R	Polymorphism	-
P00450	CERU_HUMAN	63	I	T	Polymorphism	-
P00451	FA8_HUMAN	639	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	48	R	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2251	V	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2281	I	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	609	N	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	603	S	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	24	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	67	K	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	35	Y	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2345	C	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	605	Y	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	35	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	602	R	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	604	W	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2224	P	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2220	A	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	67	K	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1260	D	E	Polymorphism	-
P00451	FA8_HUMAN	163	N	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2141	T	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1699	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	650	L	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2264	T	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	635	S	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	33	W	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	26	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	19	S	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	25	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2119	Q	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	164	G	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2117	I	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	159	V	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2209	I	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	682	V	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	612	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	637	N	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1951	L	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	659	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2193	C	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2248	W	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	601	N	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2229	L	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2145	F	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2183	M	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	137	T	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	83	P	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	637	N	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	176	S	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	633	M	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1994	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	224	G	W	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	795	R	G	Polymorphism	-
P00451	FA8_HUMAN	2257	M	V	Polymorphism	-
P00451	FA8_HUMAN	2228	R	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2157	N	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2169	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2120	F	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	721	M	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	138	S	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	179	S	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1877	C	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2204	I	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	603	S	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	172	C	W	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1939	A	V	Unclassified	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	683	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2279	F	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2251	V	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2279	F	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	69	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	631	N	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	326	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	130	G	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2345	C	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	129	E	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1289	K	Q	Polymorphism	-
P00451	FA8_HUMAN	721	M	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	405	I	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	605	Y	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	254	N	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1985	R	Q	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2185	L	W	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2162	P	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	450	Y	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2182	R	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	135	D	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	720	G	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	315	A	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	132	E	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1876	V	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	186	D	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1966	M	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	412	W	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2192	S	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	412	W	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	681	M	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1945	M	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	111	A	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	141	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	327	L	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	133	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	307	I	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1875	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	427	K	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1481	L	P	Polymorphism	-
P00451	FA8_HUMAN	22	R	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	601	N	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	556	V	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	181	V	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	567	I	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	644	L	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2344	G	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	101	D	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	717	R	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2135	R	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	303	A	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	301	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	329	C	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	137	T	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	284	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	439	G	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1968	S	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	340	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	439	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	111	A	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	664	Q	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	653	V	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	713	N	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2124	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	108	K	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1057	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2174	H	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2173	T	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	544	D	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	498	G	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	579	D	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	253	V	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2228	R	Q	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	113	H	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	739	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	631	N	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1853	A	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	303	A	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	297	V	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2185	L	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	291	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1867	H	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2051	I	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	529	K	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	474	G	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	391	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1939	A	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1982	F	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2172	P	Q	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2173	T	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	89	G	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	274	W	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2211	A	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	546	R	W	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	594	L	Q	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	577	S	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	588	D	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2117	I	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	266	G	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	145	D	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2178	R	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	222	D	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2228	R	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2228	R	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	110	M	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1869	G	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	275	H	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	117	L	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	699	M	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	677	F	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	155	Y	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	492	Y	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1904	E	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	431	L	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	560	R	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2178	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	710	G	W	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2101	H	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2290	W	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	104	V	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	686	T	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	554	S	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2182	R	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	494	I	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	405	I	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	392	S	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	147	V	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1791	M	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	189	S	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1965	S	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1909	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2242	V	M	Polymorphism	-
P00451	FA8_HUMAN	2304	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	89	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	295	F	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1872	G	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1865	D	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	488	A	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	348	C	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	391	R	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	554	S	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1802	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	561	D	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2169	R	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	474	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1853	A	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1867	H	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	683	Y	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	214	F	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	97	A	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	492	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	444	K	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	431	L	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	541	T	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	365	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	185	K	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	401	W	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2148	N	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	186	D	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1762	F	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	219	A	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	596	S	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1864	K	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2286	D	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	663	A	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	391	R	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	121	G	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	135	D	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2045	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2056	I	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1775	L	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1908	W	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1980	H	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1973	H	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1828	P	L	Unclassified	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2336	I	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	583	N	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	409	E	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	202	S	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	92	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	553	S	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	164	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	699	M	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	48	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2067	P	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	725	L	Q	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	345	V	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2196	P	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2183	M	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2013	G	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	198	C	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	578	V	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	392	S	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	92	G	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	561	D	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	99	V	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	72	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	339	M	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1901	I	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	181	V	M	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	496	P	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1800	R	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	550	R	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2109	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1842	M	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	217	L	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2182	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	727	V	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2330	Q	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	75	D	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	513	G	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	470	P	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	723	A	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	394	A	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2200	E	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1966	M	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1803	S	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	585	I	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2106	Q	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2172	P	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2307	D	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	101	D	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2138	S	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2332	W	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2326	R	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	701	M	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1882	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1971	N	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	584	Q	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	550	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1728	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1844	P	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2038	N	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	75	D	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	653	V	M	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1869	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1865	D	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2045	G	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1460	N	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2323	R	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1907	S	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	186	D	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1769	G	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1804	F	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2344	G	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1808	L	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	113	H	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2082	S	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	117	L	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	101	D	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1610	A	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2070	A	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	698	F	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2344	G	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	165	P	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	550	R	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	513	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1708	R	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1967	G	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	193	G	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1877	C	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1727	D	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2106	Q	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2178	R	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1714	T	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	30	E	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2143	M	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1873	P	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1907	S	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	584	Q	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	579	D	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1845	T	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2106	Q	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	705	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1941	N	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1941	N	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1701	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1848	E	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1998	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	41	G	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	291	E	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2326	R	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1779	G	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	588	D	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2088	S	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1740	R	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	637	N	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1800	R	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1698	I	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	348	C	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1723	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2339	R	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	947	P	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1066	H	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1771	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2198	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	585	I	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	280	G	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	586	M	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1960	R	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	540	P	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	561	D	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1800	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	484	F	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1336	Q	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	26	L	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	331	I	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	437	R	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	223	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	720	G	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	584	Q	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1720	A	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	742	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	191	L	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	569	P	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1904	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	267	C	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2058	A	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1012	V	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	278	G	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2016	R	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	285	V	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2028	G	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2093	D	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	255	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1960	R	Q	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2093	D	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1980	H	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	195	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2120	F	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1699	Y	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1858	S	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1801	P	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1715	R	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	475	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1894	E	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	717	R	W	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2172	P	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1979	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1963	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1775	L	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2040	C	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2326	R	Q	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2016	R	W	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	327	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1705	Q	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	348	C	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1708	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1799	S	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2107	G	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	323	G	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	98	E	K	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1942	G	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2326	R	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2323	R	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	299	N	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2323	R	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2065	W	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	262	P	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	261	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	75	D	V	Polymorphism	-
P00451	FA8_HUMAN	2319	P	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	314	T	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	252	T	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	219	A	T	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1768	R	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2323	R	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2036	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	308	S	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1798	A	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1779	G	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	532	W	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	503	R	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	345	V	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	474	G	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2035	V	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1788	D	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	301	R	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2248	W	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1888	R	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1782	I	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	263	G	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2105	T	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	220	V	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	202	S	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	490	R	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	522	I	Y	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	437	R	W	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	314	T	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	301	R	H	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1780	P	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	478	D	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	312	F	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2030	S	N	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1751	K	Q	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	450	Y	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	470	P	L	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2015	W	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2319	P	S	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2265	Q	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	466	G	E	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2018	E	G	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	479	T	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2022	G	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2000	G	A	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	438	I	F	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	1777	L	P	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	477	G	V	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	455	F	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	454	T	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2007	M	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	294	T	I	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	439	G	D	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	2004	T	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	470	P	R	Disease	Hemophilia A (HEMA) [MIM:306700]
P00451	FA8_HUMAN	442	Y	C	Disease	Hemophilia A (HEMA) [MIM:306700]
P00480	OTC_HUMAN	343	T	K	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	160	I	S	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	83	G	D	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	265	W	L	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	354	F	C	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	79	G	E	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	188	G	V	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	172	I	F	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	26	R	Q	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	63	L	P	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	301	L	F	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	183	Y	D	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	262	T	K	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	56	M	T	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	220	P	A	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	345	Y	D	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	337	V	L	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	206	M	I	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	191	L	F	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	216	Q	E	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	196	D	V	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	330	R	G	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	60	S	L	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	345	Y	C	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	304	L	F	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	50	G	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	302	H	Y	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	320	R	L	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	247	T	K	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	305	P	H	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	188	G	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	181	E	G	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	55	Y	D	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	87	E	K	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	303	C	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	303	C	Y	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	213	M	K	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	339	V	L	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	101	F	L	Polymorphism	-
P00480	OTC_HUMAN	45	L	V	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	195	G	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	197	G	E	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	208	A	T	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	183	Y	C	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	83	G	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	340	S	P	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	100	G	D	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	192	S	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	111	L	P	Polymorphism	-
P00480	OTC_HUMAN	336	A	S	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	302	H	Q	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	174	A	P	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	197	G	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	196	D	Y	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	206	M	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	209	A	V	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	141	R	P	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	88	K	N	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	139	L	S	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	225	P	T	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	255	H	P	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	202	H	Y	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	207	S	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	203	S	C	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	43	L	F	Polymorphism	-
P00480	OTC_HUMAN	117	H	L	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	182	H	L	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	117	H	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	141	R	Q	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	161	N	S	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	148	L	F	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	126	D	G	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	263	D	G	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	264	T	I	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	125	T	M	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	264	T	A	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	172	I	M	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	168	H	Q	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	277	R	W	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	102	A	E	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	40	R	H	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	242	T	I	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	159	I	T	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	45	L	P	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	40	R	C	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	201	L	P	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	225	P	L	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	129	R	H	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	162	G	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	39	G	C	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	168	H	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	302	H	L	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	175	D	V	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	267	S	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	326	E	K	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	214	H	Y	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	46	K	R	Polymorphism	-
P00480	OTC_HUMAN	333	T	A	Polymorphism	-
P00480	OTC_HUMAN	244	L	Q	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	225	P	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	93	T	A	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	94	R	T	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	47	N	I	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	198	N	K	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	268	M	T	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	270	Q	R	Polymorphism	-
P00480	OTC_HUMAN	140	A	P	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	263	D	N	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	90	S	R	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	92	R	Q	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	178	T	M	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	269	G	E	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	176	Y	C	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	44	T	I	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	277	R	Q	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	180	Q	H	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480	OTC_HUMAN	341	L	P	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00488	F13A_HUMAN	290	P	R	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	541	R	Q	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	416	Q	R	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	602	Q	K	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	168	Y	C	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	38	R	Q	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	704	R	Q	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	593	G	S	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	651	V	I	Polymorphism	-
P00488	F13A_HUMAN	612	R	H	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	414	S	L	Unclassified	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	376	W	R	Unclassified	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	589	L	Q	Polymorphism	-
P00488	F13A_HUMAN	669	D	G	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	530	L	P	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	565	P	L	Polymorphism	-
P00488	F13A_HUMAN	716	R	G	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	551	T	I	Polymorphism	-
P00488	F13A_HUMAN	167	P	L	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	347	A	D	Unclassified	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	172	R	Q	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	40	V	I	Polymorphism	-
P00488	F13A_HUMAN	652	Q	E	Polymorphism	-
P00488	F13A_HUMAN	343	H	Y	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	682	R	H	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	35	V	L	Polymorphism	-
P00488	F13A_HUMAN	205	Y	F	Polymorphism	-
P00488	F13A_HUMAN	274	G	V	Disease	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
P00488	F13A_HUMAN	650	T	I	Polymorphism	-
P00491	PNPH_HUMAN	234	R	P	Disease	Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
P00491	PNPH_HUMAN	128	D	G	Disease	Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
P00491	PNPH_HUMAN	192	Y	C	Disease	Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
P00491	PNPH_HUMAN	51	G	S	Polymorphism	-
P00491	PNPH_HUMAN	89	E	K	Disease	Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
P00491	PNPH_HUMAN	174	A	P	Disease	Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
P00492	HPRT_HUMAN	201	D	N	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	71	G	R	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	64	A	P	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	168	T	I	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	135	D	G	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	183	I	T	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	159	K	E	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	65	L	P	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	204	H	R	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	42	I	T	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	72	Y	C	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	78	L	Q	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	201	D	G	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	192	A	V	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	195	Y	C	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	23	C	F	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	177	D	V	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	124	T	P	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	45	R	K	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	194	D	N	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	176	P	L	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	185	D	G	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	204	H	D	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	61	H	R	Unclassified	-
P00492	HPRT_HUMAN	44	D	Y	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	201	D	Y	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	130	V	D	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	161	A	S	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	16	G	S	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	70	G	E	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	194	D	E	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	50	A	V	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	199	F	V	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	147	L	P	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	60	H	R	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	177	D	Y	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	131	L	S	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	206	C	Y	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	80	D	V	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	74	F	L	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	50	A	P	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	23	C	W	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	78	L	V	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	188	V	A	Unclassified	-
P00492	HPRT_HUMAN	143	M	K	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	53	V	A	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	41	L	P	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	110	S	L	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	20	D	V	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	51	R	P	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	162	S	R	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	132	I	T	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	104	S	R	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	16	G	D	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	54	M	L	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	42	I	F	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	53	V	M	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	48	R	H	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	8	V	G	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	51	R	G	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	132	I	M	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	7	G	D	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00492	HPRT_HUMAN	52	D	G	Polymorphism	-
P00492	HPRT_HUMAN	57	M	T	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
P00492	HPRT_HUMAN	58	G	R	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
P00505	AATM_HUMAN	428	V	A	Polymorphism	-
P00505	AATM_HUMAN	346	V	G	Polymorphism	-
P00505	AATM_HUMAN	2	A	S	Polymorphism	-
P00505	AATM_HUMAN	188	G	S	Polymorphism	-
P00519	ABL1_HUMAN	810	P	L	Polymorphism	-
P00519	ABL1_HUMAN	166	R	K	Unclassified	A melanoma sample
P00519	ABL1_HUMAN	706	G	V	Polymorphism	-
P00519	ABL1_HUMAN	852	T	P	Polymorphism	-
P00519	ABL1_HUMAN	140	L	P	Polymorphism	-
P00519	ABL1_HUMAN	900	P	S	Polymorphism	-
P00519	ABL1_HUMAN	968	S	P	Polymorphism	-
P00519	ABL1_HUMAN	247	K	R	Polymorphism	-
P00519	ABL1_HUMAN	47	R	G	Unclassified	A lung large cell carcinoma sample
P00519	ABL1_HUMAN	226	Y	C	Disease	Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602]
P00519	ABL1_HUMAN	337	A	T	Disease	Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602]
P00519	ABL1_HUMAN	972	S	L	Polymorphism	-
P00533	EGFR_HUMAN	719	G	S	Polymorphism	-
P00533	EGFR_HUMAN	719	G	D	Polymorphism	-
P00533	EGFR_HUMAN	988	H	P	Polymorphism	-
P00533	EGFR_HUMAN	768	S	I	Polymorphism	-
P00533	EGFR_HUMAN	873	G	E	Unclassified	-
P00533	EGFR_HUMAN	835	H	L	Polymorphism	-
P00533	EGFR_HUMAN	98	R	Q	Polymorphism	-
P00533	EGFR_HUMAN	709	E	A	Polymorphism	-
P00533	EGFR_HUMAN	769	V	M	Polymorphism	-
P00533	EGFR_HUMAN	861	L	Q	Polymorphism	-
P00533	EGFR_HUMAN	719	G	A	Polymorphism	-
P00533	EGFR_HUMAN	674	V	I	Polymorphism	-
P00533	EGFR_HUMAN	709	E	K	Polymorphism	-
P00533	EGFR_HUMAN	428	G	D	Disease	Inflammatory skin and bowel disease, neonatal, 2 (NISBD2) [MIM:616069]
P00533	EGFR_HUMAN	834	V	L	Polymorphism	-
P00533	EGFR_HUMAN	833	L	V	Polymorphism	-
P00533	EGFR_HUMAN	521	R	K	Polymorphism	-
P00533	EGFR_HUMAN	709	E	G	Polymorphism	-
P00533	EGFR_HUMAN	266	P	R	Polymorphism	-
P00533	EGFR_HUMAN	734	E	K	Polymorphism	-
P00533	EGFR_HUMAN	1034	L	R	Polymorphism	-
P00533	EGFR_HUMAN	1210	A	V	Polymorphism	-
P00533	EGFR_HUMAN	787	Q	R	Unclassified	-
P00533	EGFR_HUMAN	858	L	M	Polymorphism	-
P00533	EGFR_HUMAN	838	L	V	Polymorphism	-
P00533	EGFR_HUMAN	962	R	G	Polymorphism	-
P00533	EGFR_HUMAN	790	T	M	Polymorphism	-
P00533	EGFR_HUMAN	719	G	C	Polymorphism	-
P00533	EGFR_HUMAN	747	L	F	Unclassified	-
P00533	EGFR_HUMAN	858	L	R	Polymorphism	-
P00533	EGFR_HUMAN	724	G	S	Polymorphism	-
P00533	EGFR_HUMAN	748	R	P	Unclassified	-
P00540	MOS_HUMAN	105	A	S	Polymorphism	-
P00540	MOS_HUMAN	123	A	T	Unclassified	A lung adenocarcinoma sample
P00540	MOS_HUMAN	96	R	L	Polymorphism	-
P00540	MOS_HUMAN	300	S	P	Polymorphism	-
P00558	PGK1_HUMAN	252	E	A	Disease	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558	PGK1_HUMAN	316	C	R	Disease	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558	PGK1_HUMAN	164	D	V	Disease	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558	PGK1_HUMAN	352	T	N	Polymorphism	-
P00558	PGK1_HUMAN	206	R	P	Disease	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558	PGK1_HUMAN	315	D	N	Disease	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558	PGK1_HUMAN	285	D	V	Disease	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558	PGK1_HUMAN	158	G	V	Disease	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558	PGK1_HUMAN	268	D	N	Polymorphism	-
P00558	PGK1_HUMAN	266	V	M	Disease	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558	PGK1_HUMAN	88	L	P	Disease	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00568	KAD1_HUMAN	64	G	R	Disease	Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
P00568	KAD1_HUMAN	128	R	W	Disease	Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
P00568	KAD1_HUMAN	123	E	Q	Polymorphism	-
P00568	KAD1_HUMAN	164	Y	C	Disease	Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
P00568	KAD1_HUMAN	40	G	R	Disease	Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
P00709	LALBA_HUMAN	46	I	V	Polymorphism	-
P00734	THRB_HUMAN	386	P	T	Polymorphism	-
P00734	THRB_HUMAN	431	R	H	Disease	Factor II deficiency (FA2D) [MIM:613679]
P00734	THRB_HUMAN	72	E	G	Disease	Factor II deficiency (FA2D) [MIM:613679]
P00734	THRB_HUMAN	509	E	A	Disease	Factor II deficiency (FA2D) [MIM:613679]
P00734	THRB_HUMAN	425	R	C	Disease	Factor II deficiency (FA2D) [MIM:613679]
P00734	THRB_HUMAN	380	M	T	Disease	Factor II deficiency (FA2D) [MIM:613679]
P00734	THRB_HUMAN	314	R	C	Disease	Factor II deficiency (FA2D) [MIM:613679]
P00734	THRB_HUMAN	461	R	W	Disease	Factor II deficiency (FA2D) [MIM:613679]
P00734	THRB_HUMAN	165	T	M	Polymorphism	-
P00734	THRB_HUMAN	200	E	K	Disease	Factor II deficiency (FA2D) [MIM:613679]
P00734	THRB_HUMAN	532	E	Q	Polymorphism	-
P00734	THRB_HUMAN	601	G	V	Disease	Factor II deficiency (FA2D) [MIM:613679]
P00734	THRB_HUMAN	314	R	H	Disease	Factor II deficiency (FA2D) [MIM:613679]
P00736	C1R_HUMAN	163	H	Y	Polymorphism	-
P00736	C1R_HUMAN	300	L	P	Unclassified	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00736	C1R_HUMAN	50	V	D	Disease	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00736	C1R_HUMAN	371	C	W	Disease	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00736	C1R_HUMAN	261	G	R	Polymorphism	-
P00736	C1R_HUMAN	186	T	R	Polymorphism	-
P00736	C1R_HUMAN	435	W	R	Unclassified	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00736	C1R_HUMAN	364	W	C	Unclassified	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00736	C1R_HUMAN	301	R	P	Unclassified	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00736	C1R_HUMAN	309	C	W	Disease	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00736	C1R_HUMAN	152	S	L	Polymorphism	-
P00736	C1R_HUMAN	290	D	G	Unclassified	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00736	C1R_HUMAN	131	Y	H	Polymorphism	-
P00736	C1R_HUMAN	184	E	K	Polymorphism	-
P00736	C1R_HUMAN	338	C	R	Disease	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00736	C1R_HUMAN	358	C	F	Disease	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00736	C1R_HUMAN	302	Y	C	Disease	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00736	C1R_HUMAN	297	G	D	Unclassified	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
P00738	HPT_HUMAN	130	E	K	Polymorphism	-
P00738	HPT_HUMAN	129	N	D	Polymorphism	-
P00738	HPT_HUMAN	397	D	H	Polymorphism	-
P00738	HPT_HUMAN	247	I	T	Disease	Anhaptoglobinemia (AHP) [MIM:614081]
P00739	HPTR_HUMAN	42	N	H	Polymorphism	-
P00739	HPTR_HUMAN	27	T	M	Polymorphism	-
P00739	HPTR_HUMAN	339	H	D	Polymorphism	-
P00739	HPTR_HUMAN	58	R	K	Polymorphism	-
P00739	HPTR_HUMAN	283	V	A	Polymorphism	-
P00739	HPTR_HUMAN	203	R	K	Polymorphism	-
P00739	HPTR_HUMAN	156	A	V	Polymorphism	-
P00740	FA9_HUMAN	344	I	L	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	67	E	K	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	436	A	V	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	49	S	P	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	294	R	Q	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	357	G	E	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	407	C	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	20	L	S	Unclassified	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	54	E	G	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	138	N	H	Unclassified	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	91	Y	C	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	351	G	D	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	432	G	V	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	52	L	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	228	V	F	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	316	I	F	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	302	H	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	96	Q	P	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	383	L	F	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	43	R	W	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	363	G	W	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	366	A	D	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	333	P	T	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	379	R	Q	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	382	C	Y	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	383	L	I	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	108	C	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	101	P	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	73	E	K	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	390	I	F	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	333	P	H	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	227	V	F	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	252	C	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	241	Q	K	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	106	G	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	356	W	C	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	28	C	Y	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	362	K	E	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	450	Y	C	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	414	P	T	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	410	D	H	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	58	G	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	73	E	V	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	342	T	K	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	294	R	G	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	283	N	D	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	37	A	T	Polymorphism	-
P00740	FA9_HUMAN	58	G	E	Unclassified	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	397	A	P	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	454	I	T	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	379	R	G	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	84	T	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	43	R	L	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	178	C	W	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	453	W	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	396	C	F	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	387	K	E	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	54	E	D	Unclassified	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	79	E	D	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	46	R	T	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	170	C	F	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	461	T	P	Polymorphism	-
P00740	FA9_HUMAN	194	T	A	Polymorphism	-
P00740	FA9_HUMAN	93	D	G	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	430	S	T	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	106	G	D	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	28	C	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	252	C	Y	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	102	C	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	384	R	L	Disease	Thrombophilia, X-linked, due to factor IX defect (THPH8) [MIM:300807]
P00740	FA9_HUMAN	321	L	Q	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	253	G	E	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	449	R	Q	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	291	E	V	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	17	I	N	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	46	R	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	449	R	W	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	419	V	E	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	191	R	C	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	45	K	N	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	426	T	P	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	432	G	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	412	G	E	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	71	F	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	306	N	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	241	Q	H	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	169	S	C	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	226	R	G	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	227	V	D	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	75	R	Q	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	318	L	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	124	E	K	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	431	W	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	424	F	V	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	125	G	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	443	I	T	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	395	F	L	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	442	G	E	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	268	C	W	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	53	E	A	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	433	E	A	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	342	T	M	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	48	N	I	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	396	C	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	178	C	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	226	R	W	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	431	W	G	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	113	N	K	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	357	G	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	66	E	V	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	296	V	M	Unclassified	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	265	A	T	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	395	F	I	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	228	V	L	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	110	D	N	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	55	F	C	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	226	R	Q	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	191	R	H	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	139	G	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	160	G	E	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	119	C	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	30	V	I	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	407	C	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	411	S	I	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	435	C	Y	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	279	A	T	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	404	R	T	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	115	Y	C	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	413	G	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	43	R	Q	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	7	I	F	Polymorphism	-
P00740	FA9_HUMAN	155	C	F	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	125	G	E	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	433	E	K	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	125	G	V	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	328	N	K	Unclassified	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	112	I	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	253	G	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	58	G	A	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	442	G	R	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	139	G	D	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	167	Q	H	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	134	C	Y	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	119	C	F	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	328	N	Y	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	394	M	K	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	411	S	G	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	136	I	T	Disease	Hemophilia B (HEMB) [MIM:306900]
P00740	FA9_HUMAN	97	C	S	Disease	Hemophilia B (HEMB) [MIM:306900]
P00742	FA10_HUMAN	54	E	G	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	404	C	R	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	322	D	N	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	51	G	V	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	149	C	Y	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	152	A	T	Polymorphism	-
P00742	FA10_HUMAN	374	S	P	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	54	E	K	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	142	E	K	Unclassified	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	151	C	Y	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	448	K	N	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	192	G	R	Polymorphism	-
P00742	FA10_HUMAN	420	G	R	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	406	G	S	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	72	E	Q	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	383	P	S	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	47	E	G	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	358	T	M	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	421	G	D	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	289	G	R	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	30	Q	H	Polymorphism	-
P00742	FA10_HUMAN	327	R	W	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	7	L	I	Polymorphism	-
P00742	FA10_HUMAN	262	G	D	Unclassified	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	366	R	C	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	304	E	K	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	338	V	M	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	390	C	F	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	350	E	K	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	363	G	S	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	382	V	A	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00742	FA10_HUMAN	91	E	K	Disease	Factor X deficiency (FA10D) [MIM:227600]
P00746	CFAD_HUMAN	214	C	R	Disease	Complement factor D deficiency (CFDD) [MIM:613912]
P00746	CFAD_HUMAN	248	I	M	Polymorphism	-
P00746	CFAD_HUMAN	213	V	G	Disease	Complement factor D deficiency (CFDD) [MIM:613912]
P00747	PLMN_HUMAN	494	A	V	Polymorphism	-
P00747	PLMN_HUMAN	147	L	P	Disease	Plasminogen deficiency (PLGD) [MIM:217090]
P00747	PLMN_HUMAN	472	D	N	Polymorphism	-
P00747	PLMN_HUMAN	676	V	D	Polymorphism	-
P00747	PLMN_HUMAN	751	G	R	Disease	Plasminogen deficiency (PLGD) [MIM:217090]
P00747	PLMN_HUMAN	235	R	H	Disease	Plasminogen deficiency (PLGD) [MIM:217090]
P00747	PLMN_HUMAN	408	R	W	Polymorphism	-
P00747	PLMN_HUMAN	38	K	E	Disease	Plasminogen deficiency (PLGD) [MIM:217090]
P00747	PLMN_HUMAN	620	A	T	Disease	Plasminogen deficiency (PLGD) [MIM:217090]
P00747	PLMN_HUMAN	453	K	I	Polymorphism	-
P00747	PLMN_HUMAN	591	S	P	Disease	Plasminogen deficiency (PLGD) [MIM:217090]
P00747	PLMN_HUMAN	532	R	H	Disease	Plasminogen deficiency (PLGD) [MIM:217090]
P00747	PLMN_HUMAN	133	H	Q	Polymorphism	-
P00747	PLMN_HUMAN	523	R	W	Polymorphism	-
P00747	PLMN_HUMAN	261	R	H	Polymorphism	-
P00747	PLMN_HUMAN	46	I	R	Polymorphism	-
P00747	PLMN_HUMAN	374	V	F	Disease	Plasminogen deficiency (PLGD) [MIM:217090]
P00747	PLMN_HUMAN	57	E	K	Polymorphism	-
P00748	FA12_HUMAN	328	T	K	Disease	Hereditary angioedema 3 (HAE3) [MIM:610618]
P00748	FA12_HUMAN	545	G	D	Polymorphism	-
P00748	FA12_HUMAN	342	P	Q	Polymorphism	-
P00748	FA12_HUMAN	440	Q	K	Disease	Factor XII deficiency (FA12D) [MIM:234000]
P00748	FA12_HUMAN	328	T	R	Disease	Hereditary angioedema 3 (HAE3) [MIM:610618]
P00748	FA12_HUMAN	53	Y	C	Disease	Factor XII deficiency (FA12D) [MIM:234000]
P00748	FA12_HUMAN	207	A	P	Polymorphism	-
P00748	FA12_HUMAN	589	G	R	Disease	Factor XII deficiency (FA12D) [MIM:234000]
P00748	FA12_HUMAN	461	D	N	Disease	Factor XII deficiency (FA12D) [MIM:234000]
P00748	FA12_HUMAN	590	C	S	Disease	Factor XII deficiency (FA12D) [MIM:234000]
P00748	FA12_HUMAN	605	Y	H	Polymorphism	-
P00748	FA12_HUMAN	142	R	P	Disease	Factor XII deficiency (FA12D) [MIM:234000]
P00748	FA12_HUMAN	505	W	C	Disease	Factor XII deficiency (FA12D) [MIM:234000]
P00748	FA12_HUMAN	372	R	P	Disease	Factor XII deficiency (FA12D) [MIM:234000]
P00748	FA12_HUMAN	417	R	Q	Disease	Factor XII deficiency (FA12D) [MIM:234000]
P00748	FA12_HUMAN	411	A	T	Disease	Factor XII deficiency (FA12D) [MIM:234000]
P00748	FA12_HUMAN	414	L	M	Disease	Factor XII deficiency (FA12D) [MIM:234000]
P00749	UROK_HUMAN	214	I	M	Polymorphism	-
P00749	UROK_HUMAN	141	P	L	Polymorphism	-
P00749	UROK_HUMAN	15	V	L	Polymorphism	-
P00749	UROK_HUMAN	231	K	Q	Polymorphism	-
P00750	TPA_HUMAN	34	A	D	Polymorphism	-
P00750	TPA_HUMAN	136	R	S	Polymorphism	-
P00750	TPA_HUMAN	164	R	W	Polymorphism	-
P00750	TPA_HUMAN	146	A	T	Polymorphism	-
P00751	CFAB_HUMAN	203	R	Q	Disease	Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924]
P00751	CFAB_HUMAN	458	M	I	Disease	Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924]
P00751	CFAB_HUMAN	32	R	Q	Polymorphism	-
P00751	CFAB_HUMAN	651	D	E	Polymorphism	-
P00751	CFAB_HUMAN	252	G	S	Polymorphism	-
P00751	CFAB_HUMAN	28	W	Q	Polymorphism	-
P00751	CFAB_HUMAN	565	K	E	Polymorphism	-
P00751	CFAB_HUMAN	9	L	H	Polymorphism	-
P00751	CFAB_HUMAN	736	A	S	Polymorphism	-
P00751	CFAB_HUMAN	323	K	E	Disease	Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924]
P00751	CFAB_HUMAN	533	K	R	Disease	Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924]
P00751	CFAB_HUMAN	323	K	Q	Disease	Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924]
P00751	CFAB_HUMAN	32	R	W	Polymorphism	-
P00751	CFAB_HUMAN	166	S	P	Disease	Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924]
P00751	CFAB_HUMAN	286	F	L	Disease	Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924]
P00751	CFAB_HUMAN	242	I	L	Disease	Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924]
P00751	CFAB_HUMAN	28	W	R	Polymorphism	-
P00797	RENI_HUMAN	16	L	R	Disease	Familial juvenile hyperuricemic nephropathy 2 (HNFJ2) [MIM:613092]
P00797	RENI_HUMAN	33	R	W	Polymorphism	-
P00797	RENI_HUMAN	230	R	K	Disease	Renal tubular dysgenesis (RTD) [MIM:267430]
P00797	RENI_HUMAN	217	G	R	Polymorphism	-
P00797	RENI_HUMAN	104	D	N	Disease	Renal tubular dysgenesis (RTD) [MIM:267430]
P00797	RENI_HUMAN	160	Q	K	Polymorphism	-
P00813	ADA_HUMAN	233	T	I	Polymorphism	-
P00813	ADA_HUMAN	74	G	C	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	179	A	D	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	177	V	M	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	20	G	R	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	297	P	Q	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	76	R	W	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	211	R	C	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	199	Q	P	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	8	D	N	Polymorphism	-
P00813	ADA_HUMAN	215	A	T	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	80	K	R	Polymorphism	-
P00813	ADA_HUMAN	291	S	L	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	274	P	L	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	142	R	Q	Unclassified	A pancreatic ductal adenocarcinoma sample
P00813	ADA_HUMAN	329	A	V	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	211	R	H	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	152	L	M	Polymorphism	-
P00813	ADA_HUMAN	156	R	H	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	156	R	C	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	149	R	W	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	97	Y	C	Unclassified	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	101	R	Q	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	304	L	R	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	106	L	V	Unclassified	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	149	R	Q	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	101	R	L	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	15	H	D	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	216	G	R	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	107	L	P	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	140	G	E	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	101	R	W	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	129	V	M	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00813	ADA_HUMAN	83	A	D	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P00846	ATP6_HUMAN	217	L	P	Disease	Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003]
P00846	ATP6_HUMAN	33	T	S	Polymorphism	-
P00846	ATP6_HUMAN	7	A	T	Polymorphism	-
P00846	ATP6_HUMAN	217	L	P	Disease	Leigh syndrome (LS) [MIM:256000]
P00846	ATP6_HUMAN	156	L	P	Disease	Ataxia and polyneuropathy, adult-onset (APAO) [MIM:500010]
P00846	ATP6_HUMAN	155	A	T	Polymorphism	-
P00846	ATP6_HUMAN	61	H	Y	Polymorphism	-
P00846	ATP6_HUMAN	192	I	T	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P00846	ATP6_HUMAN	193	F	L	Polymorphism	-
P00846	ATP6_HUMAN	182	S	L	Polymorphism	-
P00846	ATP6_HUMAN	156	L	P	Disease	Mitochondrial complex V deficiency, mitochondrial 1 (MC5DM1) [MIM:500015]
P00846	ATP6_HUMAN	11	A	T	Polymorphism	-
P00846	ATP6_HUMAN	156	L	R	Disease	Neuropathy, ataxia, and retinitis pigmentosa (NARP) [MIM:551500]
P00846	ATP6_HUMAN	156	L	R	Disease	Leigh syndrome (LS) [MIM:256000]
P00846	ATP6_HUMAN	80	A	T	Polymorphism	-
P00846	ATP6_HUMAN	14	I	V	Polymorphism	-
P00846	ATP6_HUMAN	177	A	T	Polymorphism	-
P00846	ATP6_HUMAN	133	T	A	Polymorphism	-
P00846	ATP6_HUMAN	90	H	Y	Polymorphism	-
P00846	ATP6_HUMAN	219	S	G	Polymorphism	-
P00846	ATP6_HUMAN	156	L	P	Disease	Leigh syndrome (LS) [MIM:256000]
P00846	ATP6_HUMAN	60	M	T	Polymorphism	-
P00846	ATP6_HUMAN	59	T	A	Polymorphism	-
P00846	ATP6_HUMAN	213	V	I	Polymorphism	-
P00846	ATP6_HUMAN	178	T	A	Polymorphism	-
P00846	ATP6_HUMAN	117	F	L	Polymorphism	-
P00846	ATP6_HUMAN	121	I	V	Polymorphism	-
P00846	ATP6_HUMAN	220	L	P	Disease	Leigh syndrome (LS) [MIM:256000]
P00846	ATP6_HUMAN	148	S	N	Disease	Myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3) [MIM:500011]
P00846	ATP6_HUMAN	112	T	A	Polymorphism	-
P00846	ATP6_HUMAN	53	T	I	Polymorphism	-
P00846	ATP6_HUMAN	37	L	P	Polymorphism	-
P00846	ATP6_HUMAN	192	I	V	Polymorphism	-
P00846	ATP6_HUMAN	16	G	S	Polymorphism	-
P00846	ATP6_HUMAN	204	I	T	Polymorphism	-
P00915	CAH1_HUMAN	68	H	R	Polymorphism	-
P00915	CAH1_HUMAN	143	A	V	Polymorphism	-
P00915	CAH1_HUMAN	254	G	R	Polymorphism	-
P00918	CAH2_HUMAN	18	K	E	Polymorphism	-
P00918	CAH2_HUMAN	94	H	Y	Disease	Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
P00918	CAH2_HUMAN	144	G	R	Disease	Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
P00918	CAH2_HUMAN	107	H	Y	Disease	Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
P00918	CAH2_HUMAN	236	P	H	Polymorphism	-
P00918	CAH2_HUMAN	92	Q	P	Disease	Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
P00918	CAH2_HUMAN	252	N	D	Polymorphism	-
P00966	ASSY_HUMAN	79	S	P	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	363	R	Q	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	141	V	G	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	160	L	P	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	272	R	H	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	127	R	W	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	321	V	M	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	272	R	L	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	290	L	P	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	359	Y	D	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	237	N	I	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	96	P	L	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	95	R	S	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	258	A	V	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	127	R	L	Polymorphism	-
P00966	ASSY_HUMAN	108	R	L	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	179	W	R	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	111	A	D	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	157	R	H	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	283	E	K	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	304	R	W	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	96	P	S	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	362	G	V	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	124	D	N	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	40	Q	L	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	191	E	K	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	310	K	Q	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	184	N	K	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	96	P	H	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	302	M	V	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	363	R	W	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	363	R	L	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	307	R	C	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	258	A	P	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	119	T	I	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	190	Y	D	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	14	G	S	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	310	K	R	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	64	V	I	Unclassified	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	335	R	H	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	363	R	G	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	69	V	A	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	191	E	Q	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	265	R	C	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	117	G	S	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	390	G	R	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	157	R	C	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	306	V	G	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	270	E	Q	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	180	S	N	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	91	T	P	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	180	S	I	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	269	V	M	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	192	A	V	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	206	L	P	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	265	R	H	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	100	R	C	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	127	R	Q	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	117	G	D	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	230	G	R	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	299	A	D	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	341	S	F	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	19	C	R	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	324	G	S	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	324	G	V	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	86	R	H	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	279	R	Q	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	291	Y	S	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	272	R	C	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	100	R	H	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	157	R	S	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	389	T	I	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	277	K	T	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	280	G	R	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	337	C	R	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	296	D	G	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	117	G	C	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	86	R	C	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	118	A	T	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	284	T	I	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	202	A	E	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	18	S	L	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	347	G	R	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	263	V	M	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	356	G	V	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	164	A	P	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	389	T	P	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00966	ASSY_HUMAN	345	V	G	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
P00973	OAS1_HUMAN	31	N	D	Polymorphism	-
P00973	OAS1_HUMAN	352	A	T	Polymorphism	-
P00973	OAS1_HUMAN	354	D	G	Polymorphism	-
P00973	OAS1_HUMAN	361	R	T	Polymorphism	-
P00973	OAS1_HUMAN	127	G	R	Polymorphism	-
P00973	OAS1_HUMAN	162	G	S	Polymorphism	-
P00995	ISK1_HUMAN	14	L	P	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P00995	ISK1_HUMAN	55	P	S	Polymorphism	-
P00995	ISK1_HUMAN	34	N	S	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P00995	ISK1_HUMAN	34	N	S	Disease	Tropical calcific pancreatitis (TCP) [MIM:608189]
P00995	ISK1_HUMAN	67	R	H	Polymorphism	-
P00995	ISK1_HUMAN	12	L	F	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P01008	ANT3_HUMAN	223	S	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	257	W	R	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	198	Y	C	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	416	A	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	30	V	E	Polymorphism	-
P01008	ANT3_HUMAN	152	H	Y	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	283	M	V	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	178	L	H	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	219	N	D	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	398	D	H	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	251	I	T	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	419	A	V	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	243	T	I	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	397	S	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	302	L	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	316	I	N	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	424	G	D	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	158	L	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	214	S	Y	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	160	C	Y	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	214	S	F	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	439	P	T	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	261	F	L	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	150	Q	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	190	Y	C	Polymorphism	-
P01008	ANT3_HUMAN	198	Y	H	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	112	P	T	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	462	C	F	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	127	C	R	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	170	S	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	461	P	L	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	79	R	H	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	131	L	F	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	39	I	N	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	179	F	L	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	73	P	L	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	89	R	C	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	391	R	Q	Polymorphism	-
P01008	ANT3_HUMAN	416	A	S	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	439	P	L	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	438	R	G	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	269	E	K	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	334	E	K	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	323	S	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	283	M	I	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	90	F	L	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	56	R	C	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	161	R	Q	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	167	N	T	Polymorphism	-
P01008	ANT3_HUMAN	248	V	G	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	441	L	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	439	P	A	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	401	H	R	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	293	R	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	437	N	K	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	147	T	A	Polymorphism	-
P01008	ANT3_HUMAN	436	A	T	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	98	L	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	133	Q	K	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	79	R	C	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	52	M	T	Polymorphism	-
P01008	ANT3_HUMAN	23	L	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	434	F	S	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	148	S	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	456	G	R	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	414	A	T	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	32	C	R	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	425	R	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	425	R	H	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	131	L	V	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	412	S	R	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	381	S	P	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	146	K	E	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	218	I	N	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	79	R	S	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	121	M	K	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	434	F	C	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	434	F	L	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	453	I	T	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	125	G	D	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	457	R	T	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	459	A	D	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	426	S	L	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	53	C	F	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	95	Y	C	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	219	N	K	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	95	Y	S	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	425	R	C	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	17	Y	S	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01008	ANT3_HUMAN	438	R	M	Disease	Antithrombin III deficiency (AT3D) [MIM:613118]
P01009	A1AT_HUMAN	91	G	E	Polymorphism	-
P01009	A1AT_HUMAN	180	Q	E	Polymorphism	-
P01009	A1AT_HUMAN	112	P	T	Polymorphism	-
P01009	A1AT_HUMAN	92	T	I	Polymorphism	-
P01009	A1AT_HUMAN	77	S	F	Polymorphism	-
P01009	A1AT_HUMAN	365	D	N	Polymorphism	-
P01009	A1AT_HUMAN	247	R	C	Polymorphism	-
P01009	A1AT_HUMAN	109	T	M	Polymorphism	-
P01009	A1AT_HUMAN	84	A	T	Polymorphism	-
P01009	A1AT_HUMAN	382	M	R	Polymorphism	-
P01009	A1AT_HUMAN	37	T	A	Polymorphism	-
P01009	A1AT_HUMAN	116	I	N	Polymorphism	-
P01009	A1AT_HUMAN	125	R	H	Polymorphism	-
P01009	A1AT_HUMAN	172	G	W	Polymorphism	-
P01009	A1AT_HUMAN	354	S	F	Polymorphism	-
P01009	A1AT_HUMAN	360	A	T	Polymorphism	-
P01009	A1AT_HUMAN	69	S	F	Polymorphism	-
P01009	A1AT_HUMAN	288	E	V	Polymorphism	-
P01009	A1AT_HUMAN	65	L	P	Polymorphism	-
P01009	A1AT_HUMAN	366	E	K	Polymorphism	-
P01009	A1AT_HUMAN	386	P	T	Polymorphism	-
P01009	A1AT_HUMAN	280	D	V	Polymorphism	-
P01009	A1AT_HUMAN	4	S	L	Unclassified	-
P01009	A1AT_HUMAN	26	D	A	Polymorphism	-
P01009	A1AT_HUMAN	415	P	H	Unclassified	-
P01009	A1AT_HUMAN	387	E	K	Polymorphism	-
P01009	A1AT_HUMAN	237	V	A	Polymorphism	-
P01009	A1AT_HUMAN	63	R	C	Polymorphism	-
P01009	A1AT_HUMAN	58	A	T	Polymorphism	-
P01009	A1AT_HUMAN	139	G	S	Polymorphism	-
P01009	A1AT_HUMAN	386	P	H	Polymorphism	-
P01009	A1AT_HUMAN	400	E	D	Polymorphism	-
P01009	A1AT_HUMAN	172	G	R	Polymorphism	-
P01009	A1AT_HUMAN	393	P	L	Polymorphism	-
P01009	A1AT_HUMAN	228	E	K	Polymorphism	-
P01011	AACT_HUMAN	267	K	R	Polymorphism	-
P01011	AACT_HUMAN	401	M	V	Polymorphism	-
P01011	AACT_HUMAN	167	A	G	Polymorphism	-
P01011	AACT_HUMAN	78	L	P	Polymorphism	-
P01011	AACT_HUMAN	9	A	T	Polymorphism	-
P01011	AACT_HUMAN	407	D	G	Polymorphism	-
P01011	AACT_HUMAN	252	P	A	Polymorphism	-
P01019	ANGT_HUMAN	335	P	S	Polymorphism	-
P01019	ANGT_HUMAN	98	E	K	Polymorphism	-
P01019	ANGT_HUMAN	114	G	C	Polymorphism	-
P01019	ANGT_HUMAN	281	Y	C	Polymorphism	-
P01019	ANGT_HUMAN	392	L	M	Polymorphism	-
P01019	ANGT_HUMAN	43	L	F	Polymorphism	-
P01019	ANGT_HUMAN	244	L	R	Polymorphism	-
P01019	ANGT_HUMAN	375	R	Q	Disease	Renal tubular dysgenesis (RTD) [MIM:267430]
P01019	ANGT_HUMAN	207	T	M	Polymorphism	-
P01019	ANGT_HUMAN	242	T	I	Polymorphism	-
P01019	ANGT_HUMAN	268	M	T	Polymorphism	-
P01019	ANGT_HUMAN	268	M	I	Polymorphism	-
P01019	ANGT_HUMAN	137	T	M	Polymorphism	-
P01023	A2MG_HUMAN	704	R	H	Polymorphism	-
P01023	A2MG_HUMAN	972	C	Y	Polymorphism	-
P01023	A2MG_HUMAN	815	L	Q	Polymorphism	-
P01023	A2MG_HUMAN	639	N	D	Polymorphism	-
P01023	A2MG_HUMAN	1000	I	V	Polymorphism	-
P01024	CO3_HUMAN	155	K	Q	Disease	Macular degeneration, age-related, 9 (ARMD9) [MIM:611378]
P01024	CO3_HUMAN	863	R	K	Polymorphism	-
P01024	CO3_HUMAN	1224	G	D	Polymorphism	-
P01024	CO3_HUMAN	1601	H	N	Polymorphism	-
P01024	CO3_HUMAN	592	R	Q	Disease	Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024	CO3_HUMAN	1094	A	V	Disease	Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024	CO3_HUMAN	1158	C	W	Disease	Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024	CO3_HUMAN	549	D	N	Disease	Complement component 3 deficiency (C3D) [MIM:613779]
P01024	CO3_HUMAN	1464	H	D	Disease	Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024	CO3_HUMAN	314	P	L	Polymorphism	-
P01024	CO3_HUMAN	735	R	W	Disease	Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024	CO3_HUMAN	102	R	G	Polymorphism	-
P01024	CO3_HUMAN	592	R	W	Disease	Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024	CO3_HUMAN	1521	Q	R	Polymorphism	-
P01024	CO3_HUMAN	1115	D	N	Disease	Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024	CO3_HUMAN	469	E	D	Polymorphism	-
P01024	CO3_HUMAN	1367	I	T	Polymorphism	-
P01024	CO3_HUMAN	603	F	V	Disease	Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024	CO3_HUMAN	1619	S	R	Polymorphism	-
P01024	CO3_HUMAN	1042	R	L	Disease	Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024	CO3_HUMAN	1161	Q	K	Disease	Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01031	CO5_HUMAN	449	R	G	Polymorphism	-
P01031	CO5_HUMAN	1437	E	D	Polymorphism	-
P01031	CO5_HUMAN	802	V	I	Polymorphism	-
P01031	CO5_HUMAN	354	L	M	Polymorphism	-
P01031	CO5_HUMAN	933	G	V	Polymorphism	-
P01031	CO5_HUMAN	1043	Q	K	Polymorphism	-
P01031	CO5_HUMAN	966	D	Y	Polymorphism	-
P01031	CO5_HUMAN	145	V	I	Polymorphism	-
P01031	CO5_HUMAN	928	R	Q	Polymorphism	-
P01031	CO5_HUMAN	1037	D	N	Polymorphism	-
P01031	CO5_HUMAN	518	F	S	Polymorphism	-
P01031	CO5_HUMAN	1365	V	A	Polymorphism	-
P01031	CO5_HUMAN	885	R	H	Polymorphism	-
P01031	CO5_HUMAN	1033	I	T	Polymorphism	-
P01031	CO5_HUMAN	1310	S	N	Polymorphism	-
P01031	CO5_HUMAN	885	R	C	Polymorphism	-
P01031	CO5_HUMAN	389	T	I	Polymorphism	-
P01031	CO5_HUMAN	1053	M	L	Polymorphism	-
P01034	CYTC_HUMAN	25	A	T	Disease	Macular degeneration, age-related, 11 (ARMD11) [MIM:611953]
P01034	CYTC_HUMAN	94	L	Q	Disease	Amyloidosis 6 (AMYL6) [MIM:105150]
P01036	CYTS_HUMAN	77	T	N	Unclassified	A breast cancer sample
P01036	CYTS_HUMAN	36	D	N	Polymorphism	-
P01037	CYTN_HUMAN	31	P	L	Polymorphism	-
P01037	CYTN_HUMAN	4	Y	H	Polymorphism	-
P01037	CYTN_HUMAN	135	K	N	Polymorphism	-
P01037	CYTN_HUMAN	131	R	M	Polymorphism	-
P01037	CYTN_HUMAN	129	N	D	Polymorphism	-
P01040	CYTA_HUMAN	96	T	M	Polymorphism	-
P01042	KNG1_HUMAN	581	I	T	Polymorphism	-
P01042	KNG1_HUMAN	430	D	E	Polymorphism	-
P01042	KNG1_HUMAN	178	M	T	Polymorphism	-
P01042	KNG1_HUMAN	212	L	P	Polymorphism	-
P01042	KNG1_HUMAN	163	G	S	Polymorphism	-
P01042	KNG1_HUMAN	197	I	M	Polymorphism	-
P01042	KNG1_HUMAN	642	G	A	Polymorphism	-
P01106	MYC_HUMAN	160	G	C	Polymorphism	-
P01106	MYC_HUMAN	86	N	T	Unclassified	A Burkitt lymphoma sample
P01106	MYC_HUMAN	39	E	D	Unclassified	A Burkitt lymphoma symple
P01106	MYC_HUMAN	57	P	S	Unclassified	A Burkitt lymphoma sample
P01106	MYC_HUMAN	322	A	V	Polymorphism	-
P01106	MYC_HUMAN	11	N	S	Polymorphism	-
P01106	MYC_HUMAN	59	P	A	Unclassified	A Burkitt lymphoma sample
P01106	MYC_HUMAN	170	V	I	Polymorphism	-
P01111	RASN_HUMAN	13	G	D	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
P01111	RASN_HUMAN	12	G	D	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
P01111	RASN_HUMAN	61	Q	K	Disease	Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550]
P01111	RASN_HUMAN	12	G	C	Unclassified	Leukemia
P01111	RASN_HUMAN	13	G	D	Disease	RAS-associated autoimmune leukoproliferative disorder (RALD) [MIM:614470]
P01111	RASN_HUMAN	12	G	D	Disease	Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
P01111	RASN_HUMAN	61	Q	R	Disease	Melanosis, neurocutaneous (NCMS) [MIM:249400]
P01111	RASN_HUMAN	13	G	R	Unclassified	Colorectal cancer
P01111	RASN_HUMAN	50	T	I	Disease	Noonan syndrome 6 (NS6) [MIM:613224]
P01111	RASN_HUMAN	60	G	E	Disease	Noonan syndrome 6 (NS6) [MIM:613224]
P01111	RASN_HUMAN	61	Q	R	Disease	Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]
P01111	RASN_HUMAN	34	P	L	Disease	Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
P01111	RASN_HUMAN	61	Q	R	Disease	Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
P01111	RASN_HUMAN	61	Q	R	Disease	Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550]
P01111	RASN_HUMAN	61	Q	K	Disease	Melanosis, neurocutaneous (NCMS) [MIM:249400]
P01111	RASN_HUMAN	13	G	R	Disease	Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550]
P01112	RASH_HUMAN	22	Q	K	Disease	Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
P01112	RASH_HUMAN	12	G	E	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01112	RASH_HUMAN	12	G	S	Disease	Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
P01112	RASH_HUMAN	12	G	C	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01112	RASH_HUMAN	12	G	A	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01112	RASH_HUMAN	12	G	V	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01112	RASH_HUMAN	13	G	D	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01112	RASH_HUMAN	63	E	K	Disease	Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
P01112	RASH_HUMAN	61	Q	K	Disease	Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]
P01112	RASH_HUMAN	13	G	C	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01112	RASH_HUMAN	12	G	V	Disease	Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
P01112	RASH_HUMAN	89	S	C	Unclassified	-
P01112	RASH_HUMAN	12	G	S	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01112	RASH_HUMAN	12	G	V	Unclassified	Bladder carcinoma
P01112	RASH_HUMAN	61	Q	L	Unclassified	Melanoma
P01112	RASH_HUMAN	146	A	V	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01112	RASH_HUMAN	13	G	R	Disease	Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200]
P01112	RASH_HUMAN	117	K	R	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01112	RASH_HUMAN	12	G	D	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01112	RASH_HUMAN	146	A	T	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01112	RASH_HUMAN	58	T	I	Disease	Costello syndrome (CSTLO) [MIM:218040]
P01116	RASK_HUMAN	146	A	T	Unclassified	A colorectal cancer sample
P01116	RASK_HUMAN	12	G	R	Unclassified	Bladder cancer
P01116	RASK_HUMAN	61	Q	H	Unclassified	Lung carcinoma
P01116	RASK_HUMAN	36	I	M	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
P01116	RASK_HUMAN	12	G	C	Unclassified	Lung carcinoma
P01116	RASK_HUMAN	61	Q	R	Unclassified	A colorectal cancer sample
P01116	RASK_HUMAN	13	G	R	Polymorphism	-
P01116	RASK_HUMAN	12	G	S	Disease	Gastric cancer (GASC) [MIM:613659]
P01116	RASK_HUMAN	22	Q	R	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
P01116	RASK_HUMAN	12	G	V	Disease	Gastric cancer (GASC) [MIM:613659]
P01116	RASK_HUMAN	12	G	S	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
P01116	RASK_HUMAN	5	K	E	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
P01116	RASK_HUMAN	12	G	A	Unclassified	A colorectal cancer sample
P01116	RASK_HUMAN	5	K	N	Disease	Gastric cancer (GASC) [MIM:613659]
P01116	RASK_HUMAN	147	K	E	Disease	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
P01116	RASK_HUMAN	13	G	D	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
P01116	RASK_HUMAN	14	V	I	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
P01116	RASK_HUMAN	34	P	Q	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
P01116	RASK_HUMAN	58	T	I	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
P01116	RASK_HUMAN	71	Y	H	Disease	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
P01116	RASK_HUMAN	60	G	S	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
P01116	RASK_HUMAN	12	G	D	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
P01116	RASK_HUMAN	12	G	D	Disease	Gastric cancer (GASC) [MIM:613659]
P01116	RASK_HUMAN	117	K	N	Unclassified	A colorectal cancer sample
P01116	RASK_HUMAN	59	A	T	Disease	Gastric cancer (GASC) [MIM:613659]
P01116	RASK_HUMAN	13	G	D	Disease	Gastric cancer (GASC) [MIM:613659]
P01116	RASK_HUMAN	22	Q	E	Disease	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
P01116	RASK_HUMAN	60	G	R	Disease	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
P01116	RASK_HUMAN	12	G	R	Unclassified	Lung cancer
P01116	RASK_HUMAN	34	P	L	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
P01116	RASK_HUMAN	34	P	R	Disease	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
P01127	PDGFB_HUMAN	119	L	P	Disease	Basal ganglia calcification, idiopathic, 5 (IBGC5) [MIM:615483]
P01127	PDGFB_HUMAN	88	I	V	Polymorphism	-
P01127	PDGFB_HUMAN	9	L	R	Disease	Basal ganglia calcification, idiopathic, 5 (IBGC5) [MIM:615483]
P01130	LDLR_HUMAN	564	N	H	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	700	D	E	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	592	G	E	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	685	P	L	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	155	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	682	L	P	Polymorphism	-
P01130	LDLR_HUMAN	231	C	G	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	677	C	R	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	46	C	S	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	148	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	565	G	V	Polymorphism	-
P01130	LDLR_HUMAN	2	G	R	Polymorphism	-
P01130	LDLR_HUMAN	177	S	L	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	667	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	224	D	N	Polymorphism	-
P01130	LDLR_HUMAN	201	E	K	Polymorphism	-
P01130	LDLR_HUMAN	228	E	Q	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	814	R	Q	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	221	D	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	633	R	C	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	175	D	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	224	D	V	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	184	C	W	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	139	D	H	Polymorphism	-
P01130	LDLR_HUMAN	221	D	G	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	379	C	R	Polymorphism	-
P01130	LDLR_HUMAN	270	C	Y	Polymorphism	-
P01130	LDLR_HUMAN	221	D	N	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	379	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	197	C	Y	Polymorphism	-
P01130	LDLR_HUMAN	173	C	R	Polymorphism	-
P01130	LDLR_HUMAN	549	G	D	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	227	D	E	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	288	E	K	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	257	R	W	Polymorphism	-
P01130	LDLR_HUMAN	577	W	S	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	391	A	T	Polymorphism	-
P01130	LDLR_HUMAN	277	E	K	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	329	C	F	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	255	C	S	Polymorphism	-
P01130	LDLR_HUMAN	134	C	F	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	579	D	N	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	224	D	G	Polymorphism	-
P01130	LDLR_HUMAN	302	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	432	L	V	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	184	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	595	R	W	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	401	L	V	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	568	L	V	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	356	D	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	168	D	N	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	526	P	S	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	313	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	172	D	N	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	226	S	P	Polymorphism	-
P01130	LDLR_HUMAN	585	I	T	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	50	A	S	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	266	D	E	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	406	R	Q	Polymorphism	-
P01130	LDLR_HUMAN	211	H	L	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	806	V	D	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	601	D	H	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	243	C	R	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	471	R	G	Polymorphism	-
P01130	LDLR_HUMAN	714	E	K	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	314	G	R	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	468	V	I	Polymorphism	-
P01130	LDLR_HUMAN	399	A	D	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	228	E	K	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	599	L	S	Polymorphism	-
P01130	LDLR_HUMAN	639	V	D	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	844	G	D	Polymorphism	-
P01130	LDLR_HUMAN	306	S	L	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	366	Q	R	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	742	T	I	Polymorphism	-
P01130	LDLR_HUMAN	423	I	T	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	403	F	L	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	168	D	A	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	482	D	H	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	240	E	K	Polymorphism	-
P01130	LDLR_HUMAN	329	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	318	C	F	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	248	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	431	A	T	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	564	N	S	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	414	L	R	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	699	P	L	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	608	P	S	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	352	C	Y	Polymorphism	-
P01130	LDLR_HUMAN	574	R	C	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	416	R	Q	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	300	R	G	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	327	H	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	406	R	W	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	454	T	N	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	401	L	H	Polymorphism	-
P01130	LDLR_HUMAN	318	C	Y	Polymorphism	-
P01130	LDLR_HUMAN	101	E	K	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	338	C	S	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	574	R	H	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	197	C	F	Polymorphism	-
P01130	LDLR_HUMAN	364	C	R	Polymorphism	-
P01130	LDLR_HUMAN	354	D	G	Polymorphism	-
P01130	LDLR_HUMAN	90	D	G	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	416	R	W	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	301	D	G	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	479	L	P	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	89	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	304	D	E	Polymorphism	-
P01130	LDLR_HUMAN	827	V	I	Polymorphism	-
P01130	LDLR_HUMAN	350	R	P	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	577	W	G	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	286	S	R	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	95	C	G	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	302	C	W	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	87	W	G	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	90	D	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	155	C	G	Polymorphism	-
P01130	LDLR_HUMAN	408	E	K	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	368	C	Y	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	546	G	D	Polymorphism	-
P01130	LDLR_HUMAN	254	Q	P	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	443	W	C	Polymorphism	-
P01130	LDLR_HUMAN	52	C	Y	Polymorphism	-
P01130	LDLR_HUMAN	335	G	S	Polymorphism	-
P01130	LDLR_HUMAN	222	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	261	C	F	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	368	C	R	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	109	C	R	Polymorphism	-
P01130	LDLR_HUMAN	357	E	K	Polymorphism	-
P01130	LDLR_HUMAN	78	R	C	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	168	D	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	276	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	116	C	R	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	373	G	D	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	649	P	L	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	429	V	M	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	792	I	F	Polymorphism	-
P01130	LDLR_HUMAN	105	P	S	Polymorphism	-
P01130	LDLR_HUMAN	354	D	V	Polymorphism	-
P01130	LDLR_HUMAN	172	D	H	Polymorphism	-
P01130	LDLR_HUMAN	248	C	F	Polymorphism	-
P01130	LDLR_HUMAN	276	C	W	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	276	C	R	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	56	S	P	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	168	D	H	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	253	R	W	Polymorphism	-
P01130	LDLR_HUMAN	415	D	G	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	343	G	S	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	342	D	E	Polymorphism	-
P01130	LDLR_HUMAN	434	T	K	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	90	D	N	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	92	Q	E	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	256	D	G	Polymorphism	-
P01130	LDLR_HUMAN	27	C	W	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	318	C	R	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	442	Y	H	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	342	D	N	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	370	N	T	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	197	C	R	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	143	C	R	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	825	N	K	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	828	Y	C	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	352	C	R	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	441	I	N	Polymorphism	-
P01130	LDLR_HUMAN	140	E	K	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	326	S	C	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	173	C	W	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	797	V	M	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	404	T	P	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	304	D	N	Polymorphism	-
P01130	LDLR_HUMAN	175	D	N	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	451	I	T	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	478	G	R	Polymorphism	-
P01130	LDLR_HUMAN	358	C	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	726	T	I	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	579	D	Y	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	301	D	A	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	285	H	Y	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	485	H	R	Polymorphism	-
P01130	LDLR_HUMAN	826	P	S	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	441	I	M	Polymorphism	-
P01130	LDLR_HUMAN	134	C	W	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	483	W	R	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	433	D	H	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	160	C	Y	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	492	D	N	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	523	V	M	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P01130	LDLR_HUMAN	50	A	T	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P01133	EGF_HUMAN	1084	A	G	Polymorphism	-
P01133	EGF_HUMAN	151	H	Y	Polymorphism	-
P01133	EGF_HUMAN	981	D	E	Polymorphism	-
P01133	EGF_HUMAN	1043	L	F	Polymorphism	-
P01133	EGF_HUMAN	292	L	H	Polymorphism	-
P01133	EGF_HUMAN	257	D	H	Polymorphism	-
P01133	EGF_HUMAN	431	R	K	Polymorphism	-
P01133	EGF_HUMAN	723	G	R	Polymorphism	-
P01133	EGF_HUMAN	842	M	T	Polymorphism	-
P01133	EGF_HUMAN	784	D	V	Polymorphism	-
P01133	EGF_HUMAN	638	S	R	Polymorphism	-
P01133	EGF_HUMAN	16	S	R	Polymorphism	-
P01133	EGF_HUMAN	708	M	I	Polymorphism	-
P01133	EGF_HUMAN	920	E	V	Polymorphism	-
P01133	EGF_HUMAN	1070	P	L	Disease	Hypomagnesemia 4 (HOMG4) [MIM:611718]
P01135	TGFA_HUMAN	109	V	M	Polymorphism	-
P01137	TGFB1_HUMAN	387	C	R	Disease	Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213]
P01137	TGFB1_HUMAN	218	R	C	Disease	Camurati-Engelmann disease (CAEND) [MIM:131300]
P01137	TGFB1_HUMAN	263	T	I	Polymorphism	-
P01137	TGFB1_HUMAN	225	C	R	Disease	Camurati-Engelmann disease (CAEND) [MIM:131300]
P01137	TGFB1_HUMAN	222	H	D	Disease	Camurati-Engelmann disease (CAEND) [MIM:131300]
P01137	TGFB1_HUMAN	223	C	G	Disease	Camurati-Engelmann disease (CAEND) [MIM:131300]
P01137	TGFB1_HUMAN	223	C	R	Disease	Camurati-Engelmann disease (CAEND) [MIM:131300]
P01137	TGFB1_HUMAN	10	L	P	Polymorphism	-
P01137	TGFB1_HUMAN	81	Y	H	Disease	Camurati-Engelmann disease (CAEND) [MIM:131300]
P01137	TGFB1_HUMAN	45	R	C	Disease	Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213]
P01137	TGFB1_HUMAN	110	R	C	Disease	Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213]
P01137	TGFB1_HUMAN	25	R	P	Polymorphism	-
P01137	TGFB1_HUMAN	218	R	H	Disease	Camurati-Engelmann disease (CAEND) [MIM:131300]
P01138	NGF_HUMAN	221	R	W	Disease	Neuropathy, hereditary sensory and autonomic, 5 (HSAN5) [MIM:608654]
P01138	NGF_HUMAN	35	A	V	Polymorphism	-
P01138	NGF_HUMAN	72	V	M	Polymorphism	-
P01138	NGF_HUMAN	80	R	Q	Polymorphism	-
P01138	NGF_HUMAN	187	S	N	Unclassified	-
P01148	GON1_HUMAN	31	R	C	Unclassified	Hypogonadotropic hypogonadism 12 with or without anosmia (HH12) [MIM:614841]
P01148	GON1_HUMAN	16	W	S	Polymorphism	-
P01160	ANF_HUMAN	32	V	M	Polymorphism	-
P01160	ANF_HUMAN	150	R	Q	Disease	Atrial standstill 2 (ATRST2) [MIM:615745]
P01185	NEU2_HUMAN	116	C	R	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	19	A	T	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	78	E	G	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	52	C	R	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	98	C	G	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	105	C	R	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	51	R	C	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	104	C	G	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	96	G	D	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	105	C	Y	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	21	Y	H	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	82	P	L	Polymorphism	-
P01185	NEU2_HUMAN	67	V	A	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	59	C	R	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	104	C	F	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	92	C	Y	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	96	G	V	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	26	P	L	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	119	G	V	Polymorphism	-
P01185	NEU2_HUMAN	17	S	F	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	45	G	R	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	98	C	S	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	81	L	P	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	59	C	Y	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	116	C	G	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	97	R	P	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	97	R	C	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	88	G	S	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	55	P	L	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	58	C	F	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	54	G	V	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	99	A	P	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	96	G	C	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	48	G	V	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	19	A	V	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	92	C	S	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	88	G	R	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	116	C	W	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	87	S	F	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	93	G	W	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185	NEU2_HUMAN	54	G	R	Disease	Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01189	COLI_HUMAN	214	E	G	Polymorphism	-
P01189	COLI_HUMAN	132	P	A	Polymorphism	-
P01189	COLI_HUMAN	7	S	T	Polymorphism	-
P01189	COLI_HUMAN	106	D	N	Polymorphism	-
P01189	COLI_HUMAN	236	R	Q	Polymorphism	-
P01189	COLI_HUMAN	236	R	G	Polymorphism	-
P01189	COLI_HUMAN	62	P	L	Polymorphism	-
P01189	COLI_HUMAN	9	S	L	Polymorphism	-
P01210	PENK_HUMAN	83	T	N	Polymorphism	-
P01210	PENK_HUMAN	247	G	D	Polymorphism	-
P01213	PDYN_HUMAN	25	R	Q	Polymorphism	-
P01213	PDYN_HUMAN	138	R	S	Disease	Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P01213	PDYN_HUMAN	211	L	S	Disease	Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P01213	PDYN_HUMAN	206	R	H	Disease	Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P01213	PDYN_HUMAN	227	G	D	Disease	Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P01213	PDYN_HUMAN	206	R	C	Disease	Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P01213	PDYN_HUMAN	22	C	Y	Disease	Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P01213	PDYN_HUMAN	215	R	C	Disease	Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P01213	PDYN_HUMAN	212	R	W	Disease	Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P01222	TSHB_HUMAN	14	T	A	Polymorphism	-
P01225	FSHB_HUMAN	69	C	G	Disease	Hypogonadotropic hypogonadism 24 without anosmia (HH24) [MIM:229070]
P01225	FSHB_HUMAN	20	S	I	Polymorphism	-
P01229	LSHB_HUMAN	74	Q	R	Disease	Hypogonadotropic hypogonadism 23 without anosmia (HH23) [MIM:228300]
P01229	LSHB_HUMAN	122	G	S	Polymorphism	-
P01229	LSHB_HUMAN	35	I	T	Polymorphism	-
P01229	LSHB_HUMAN	28	W	R	Polymorphism	-
P01229	LSHB_HUMAN	15	M	I	Polymorphism	-
P01229	LSHB_HUMAN	18	A	T	Polymorphism	-
P01241	SOMA_HUMAN	73	N	D	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	136	V	I	Polymorphism	-
P01241	SOMA_HUMAN	134	S	C	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	201	T	A	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	103	R	C	Disease	Kowarski syndrome (KWKS) [MIM:262650]
P01241	SOMA_HUMAN	97	S	F	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	16	L	P	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	79	C	S	Polymorphism	-
P01241	SOMA_HUMAN	37	D	N	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	53	T	I	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	138	D	G	Disease	Kowarski syndrome (KWKS) [MIM:262650]
P01241	SOMA_HUMAN	67	K	R	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	42	R	C	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	100	E	K	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	205	I	M	Polymorphism	-
P01241	SOMA_HUMAN	209	R	H	Disease	Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100]
P01241	SOMA_HUMAN	117	Q	L	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	105	S	C	Polymorphism	-
P01241	SOMA_HUMAN	134	S	R	Disease	Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
P01241	SOMA_HUMAN	3	T	A	Polymorphism	-
P01242	SOM2_HUMAN	90	R	W	Polymorphism	-
P01258	CALC_HUMAN	2	G	R	Polymorphism	-
P01258	CALC_HUMAN	138	Q	P	Polymorphism	-
P01258	CALC_HUMAN	123	S	T	Polymorphism	-
P01258	CALC_HUMAN	57	D	N	Polymorphism	-
P01258	CALC_HUMAN	76	S	R	Polymorphism	-
P01258	CALC_HUMAN	67	E	K	Polymorphism	-
P01266	THYG_HUMAN	1974	M	T	Polymorphism	-
P01266	THYG_HUMAN	777	P	L	Polymorphism	-
P01266	THYG_HUMAN	1936	A	T	Polymorphism	-
P01266	THYG_HUMAN	2530	R	Q	Polymorphism	-
P01266	THYG_HUMAN	1063	L	M	Polymorphism	-
P01266	THYG_HUMAN	2526	F	L	Polymorphism	-
P01266	THYG_HUMAN	515	Q	E	Polymorphism	-
P01266	THYG_HUMAN	1437	W	R	Polymorphism	-
P01266	THYG_HUMAN	604	S	D	Polymorphism	-
P01266	THYG_HUMAN	870	Q	H	Polymorphism	-
P01266	THYG_HUMAN	1979	R	W	Polymorphism	-
P01266	THYG_HUMAN	1897	C	Y	Disease	Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]
P01266	THYG_HUMAN	1222	S	L	Polymorphism	-
P01266	THYG_HUMAN	183	C	Y	Disease	Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]
P01266	THYG_HUMAN	1043	H	Y	Polymorphism	-
P01266	THYG_HUMAN	1463	P	H	Polymorphism	-
P01266	THYG_HUMAN	1312	D	G	Polymorphism	-
P01266	THYG_HUMAN	2091	D	E	Polymorphism	-
P01266	THYG_HUMAN	830	Q	E	Polymorphism	-
P01266	THYG_HUMAN	988	R	P	Polymorphism	-
P01266	THYG_HUMAN	1028	M	V	Polymorphism	-
P01266	THYG_HUMAN	1838	D	N	Polymorphism	-
P01266	THYG_HUMAN	2616	N	S	Polymorphism	-
P01266	THYG_HUMAN	2170	Q	R	Polymorphism	-
P01266	THYG_HUMAN	1996	C	S	Disease	Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]
P01266	THYG_HUMAN	653	G	D	Polymorphism	-
P01266	THYG_HUMAN	2242	R	H	Polymorphism	-
P01266	THYG_HUMAN	1059	I	T	Polymorphism	-
P01266	THYG_HUMAN	2336	R	Q	Disease	Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]
P01266	THYG_HUMAN	734	S	A	Polymorphism	-
P01266	THYG_HUMAN	1999	R	W	Polymorphism	-
P01266	THYG_HUMAN	2501	W	R	Polymorphism	-
P01266	THYG_HUMAN	815	G	R	Polymorphism	-
P01266	THYG_HUMAN	2469	L	P	Polymorphism	-
P01266	THYG_HUMAN	2375	G	R	Disease	Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]
P01266	THYG_HUMAN	1264	C	R	Disease	Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]
P01266	THYG_HUMAN	2455	R	H	Polymorphism	-
P01266	THYG_HUMAN	135	Q	H	Polymorphism	-
P01266	THYG_HUMAN	2149	P	L	Polymorphism	-
P01266	THYG_HUMAN	2234	A	D	Disease	Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]
P01266	THYG_HUMAN	1740	T	K	Polymorphism	-
P01270	PTHY_HUMAN	18	C	R	Disease	Hypoparathyroidism, familial isolated (FIH) [MIM:146200]
P01270	PTHY_HUMAN	23	S	P	Disease	Hypoparathyroidism, familial isolated (FIH) [MIM:146200]
P01275	GLUC_HUMAN	115	A	V	Polymorphism	-
P01286	SLIB_HUMAN	75	L	F	Polymorphism	-
P01286	SLIB_HUMAN	32	Y	C	Polymorphism	-
P01298	PAHO_HUMAN	78	E	G	Polymorphism	-
P01303	NPY_HUMAN	7	L	P	Polymorphism	-
P01303	NPY_HUMAN	22	L	M	Polymorphism	-
P01308	INS_HUMAN	90	G	C	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	32	G	S	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	89	R	C	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	46	R	Q	Disease	Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370]
P01308	INS_HUMAN	48	F	C	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	43	C	G	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	34	H	D	Disease	Hyperproinsulinemia (HPRI) [MIM:616214]
P01308	INS_HUMAN	49	F	L	Polymorphism	-
P01308	INS_HUMAN	68	L	M	Polymorphism	-
P01308	INS_HUMAN	24	A	D	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	84	G	R	Unclassified	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	89	R	L	Disease	Hyperproinsulinemia (HPRI) [MIM:616214]
P01308	INS_HUMAN	47	G	V	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	92	V	L	Polymorphism	-
P01308	INS_HUMAN	35	L	P	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	89	R	H	Disease	Hyperproinsulinemia (HPRI) [MIM:616214]
P01308	INS_HUMAN	6	R	C	Disease	Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370]
P01308	INS_HUMAN	96	C	S	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	29	H	D	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	101	S	C	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	103	Y	C	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	96	C	Y	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	55	R	C	Disease	Diabetes mellitus, insulin-dependent, 2 (IDDM2) [MIM:125852]
P01308	INS_HUMAN	108	Y	C	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	6	R	H	Disease	Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370]
P01308	INS_HUMAN	32	G	R	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308	INS_HUMAN	48	F	S	Polymorphism	-
P01344	IGF2_HUMAN	173	P	Q	Polymorphism	-
P01344	IGF2_HUMAN	180	K	N	Polymorphism	-
P01344	IGF2_HUMAN	120	K	N	Polymorphism	-
P01350	GAST_HUMAN	3	R	P	Polymorphism	-
P01374	TNFB_HUMAN	60	T	N	Polymorphism	-
P01374	TNFB_HUMAN	51	H	P	Polymorphism	-
P01374	TNFB_HUMAN	13	C	R	Polymorphism	-
P01374	TNFB_HUMAN	125	T	P	Polymorphism	-
P01375	TNFA_HUMAN	84	P	L	Polymorphism	-
P01375	TNFA_HUMAN	94	A	T	Polymorphism	-
P01562	IFNA1_HUMAN	10	V	A	Polymorphism	-
P01562	IFNA1_HUMAN	163	A	G	Polymorphism	-
P01562	IFNA1_HUMAN	137	A	V	Polymorphism	-
P01563	IFNA2_HUMAN	57	H	R	Polymorphism	-
P01563	IFNA2_HUMAN	177	S	L	Unclassified	A breast cancer sample
P01563	IFNA2_HUMAN	6	A	D	Polymorphism	-
P01563	IFNA2_HUMAN	46	K	R	Polymorphism	-
P01566	IFN10_HUMAN	42	G	A	Polymorphism	-
P01568	IFN21_HUMAN	179	K	E	Polymorphism	-
P01568	IFN21_HUMAN	119	L	M	Polymorphism	-
P01571	IFN17_HUMAN	184	I	R	Polymorphism	-
P01574	IFNB_HUMAN	162	C	Y	Unclassified	-
P01574	IFNB_HUMAN	164	W	C	Unclassified	A breast cancer sample
P01579	IFNG_HUMAN	29	K	Q	Polymorphism	-
P01579	IFNG_HUMAN	160	R	Q	Polymorphism	-
P01583	IL1A_HUMAN	138	D	N	Polymorphism	-
P01583	IL1A_HUMAN	176	D	H	Polymorphism	-
P01583	IL1A_HUMAN	125	N	D	Polymorphism	-
P01583	IL1A_HUMAN	85	R	Q	Polymorphism	-
P01583	IL1A_HUMAN	114	A	S	Polymorphism	-
P01584	IL1B_HUMAN	141	E	N	Polymorphism	-
P01588	EPO_HUMAN	149	P	Q	Unclassified	A hepatocellular carcinoma
P01588	EPO_HUMAN	99	E	G	Unclassified	-
P01588	EPO_HUMAN	70	D	N	Unclassified	Erythrocytosis, familial, 5 (ECYT5) [MIM:617907]
P01588	EPO_HUMAN	114	P	L	Unclassified	Erythrocytosis, familial, 5 (ECYT5) [MIM:617907]
P01588	EPO_HUMAN	84	G	R	Unclassified	Erythrocytosis, familial, 5 (ECYT5) [MIM:617907]
P01588	EPO_HUMAN	147	S	C	Unclassified	Erythrocytosis, familial, 5 (ECYT5) [MIM:617907]
P01588	EPO_HUMAN	177	R	Q	Disease	Diamond-Blackfan anemia-like (DBAL) [MIM:617911]
P01589	IL2RA_HUMAN	41	Y	S	Disease	Immunodeficiency 41 with lymphoproliferation and autoimmunity (IMD41) [MIM:606367]
P01589	IL2RA_HUMAN	272	I	T	Polymorphism	-
P01589	IL2RA_HUMAN	166	S	N	Disease	Immunodeficiency 41 with lymphoproliferation and autoimmunity (IMD41) [MIM:606367]
P01601	KVD16_HUMAN	48	S	R	Polymorphism	-
P01602	KV105_HUMAN	72	K	D	Polymorphism	-
P01730	CD4_HUMAN	227	F	S	Polymorphism	-
P01730	CD4_HUMAN	191	K	E	Polymorphism	-
P01730	CD4_HUMAN	265	R	W	Polymorphism	-
P01732	CD8A_HUMAN	111	G	S	Disease	CD8 deficiency, familial (CD8 deficiency) [MIM:608957]
P01743	HV146_HUMAN	49	T	N	Polymorphism	-
P01764	HV323_HUMAN	80	A	G	Polymorphism	-
P01764	HV323_HUMAN	24	V	L	Polymorphism	-
P01833	PIGR_HUMAN	580	A	V	Polymorphism	-
P01833	PIGR_HUMAN	365	G	S	Polymorphism	-
P01833	PIGR_HUMAN	555	T	I	Polymorphism	-
P01834	IGKC_HUMAN	41	W	R	Disease	Immunoglobulin kappa light chain deficiency (IGKCD) [MIM:614102]
P01834	IGKC_HUMAN	84	V	L	Polymorphism	-
P01854	IGHE_HUMAN	43	W	C	Polymorphism	-
P01854	IGHE_HUMAN	359	W	L	Polymorphism	-
P01857	IGHG1_HUMAN	97	K	R	Polymorphism	-
P01857	IGHG1_HUMAN	241	L	M	Polymorphism	-
P01857	IGHG1_HUMAN	239	D	E	Polymorphism	-
P01859	IGHG2_HUMAN	257	S	A	Polymorphism	-
P01859	IGHG2_HUMAN	60	S	A	Polymorphism	-
P01860	IGHG3_HUMAN	314	S	N	Unclassified	-
P01860	IGHG3_HUMAN	226	Y	F	Unclassified	-
P01860	IGHG3_HUMAN	245	N	D	Unclassified	-
P01860	IGHG3_HUMAN	213	E	Q	Unclassified	-
P01860	IGHG3_HUMAN	242	D	N	Unclassified	-
P01860	IGHG3_HUMAN	224	E	Q	Unclassified	-
P01860	IGHG3_HUMAN	221	P	L	Unclassified	-
P01860	IGHG3_HUMAN	366	F	Y	Unclassified	-
P01860	IGHG3_HUMAN	269	T	A	Unclassified	-
P01871	IGHM_HUMAN	215	V	G	Polymorphism	-
P01871	IGHM_HUMAN	191	G	S	Polymorphism	-
P01871	IGHM_HUMAN	418	E	D	Polymorphism	-
P01871	IGHM_HUMAN	40	F	L	Polymorphism	-
P01876	IGHA1_HUMAN	176	E	D	Polymorphism	-
P01877	IGHA2_HUMAN	335	A	V	Polymorphism	-
P01877	IGHA2_HUMAN	279	Y	F	Polymorphism	-
P01877	IGHA2_HUMAN	102	R	P	Polymorphism	-
P01877	IGHA2_HUMAN	326	I	V	Polymorphism	-
P01877	IGHA2_HUMAN	93	S	P	Polymorphism	-
P01877	IGHA2_HUMAN	296	E	D	Polymorphism	-
P01889	1B07_HUMAN	48	S	P	Polymorphism	-
P01889	1B07_HUMAN	349	C	S	Polymorphism	-
P01889	1B07_HUMAN	180	R	D	Polymorphism	-
P01889	1B07_HUMAN	195	Y	H	Polymorphism	-
P01889	1B07_HUMAN	48	S	T	Polymorphism	-
P01889	1B07_HUMAN	138	D	H	Polymorphism	-
P01889	1B07_HUMAN	349	C	Y	Polymorphism	-
P01889	1B07_HUMAN	187	E	L	Polymorphism	-
P01889	1B07_HUMAN	48	S	A	Polymorphism	-
P01889	1B07_HUMAN	329	A	T	Polymorphism	-
P01889	1B07_HUMAN	155	R	S	Polymorphism	-
P01889	1B07_HUMAN	137	H	Y	Polymorphism	-
P01889	1B07_HUMAN	9	V	L	Polymorphism	-
P01889	1B07_HUMAN	138	D	N	Polymorphism	-
P01889	1B07_HUMAN	187	E	A	Polymorphism	-
P01889	1B07_HUMAN	87	N	K	Polymorphism	-
P01889	1B07_HUMAN	17	L	V	Polymorphism	-
P01889	1B07_HUMAN	187	E	V	Polymorphism	-
P01889	1B07_HUMAN	187	E	K	Polymorphism	-
P01889	1B07_HUMAN	187	E	Q	Polymorphism	-
P01889	1B07_HUMAN	101	S	N	Polymorphism	-
P01889	1B07_HUMAN	4	M	T	Polymorphism	-
P01889	1B07_HUMAN	121	S	R	Polymorphism	-
P01889	1B07_HUMAN	65	A	T	Polymorphism	-
P01889	1B07_HUMAN	87	N	D	Polymorphism	-
P01889	1B07_HUMAN	35	S	A	Polymorphism	-
P01889	1B07_HUMAN	97	T	A	Polymorphism	-
P01889	1B07_HUMAN	98	D	Y	Polymorphism	-
P01889	1B07_HUMAN	187	E	G	Polymorphism	-
P01889	1B07_HUMAN	36	V	M	Polymorphism	-
P01889	1B07_HUMAN	306	V	I	Polymorphism	-
P01891	1A68_HUMAN	140	D	Y	Polymorphism	-
P01891	1A68_HUMAN	98	D	H	Polymorphism	-
P01891	1A68_HUMAN	89	R	G	Polymorphism	-
P01891	1A68_HUMAN	138	R	H	Polymorphism	-
P01891	1A68_HUMAN	121	M	R	Polymorphism	-
P01891	1A68_HUMAN	133	F	L	Polymorphism	-
P01891	1A68_HUMAN	138	R	E	Polymorphism	-
P01891	1A68_HUMAN	180	W	Q	Polymorphism	-
P01891	1A68_HUMAN	140	D	V	Polymorphism	-
P01891	1A68_HUMAN	97	T	I	Polymorphism	-
P01891	1A68_HUMAN	140	D	H	Polymorphism	-
P01891	1A68_HUMAN	175	H	L	Polymorphism	-
P01891	1A68_HUMAN	94	Q	H	Polymorphism	-
P01891	1A68_HUMAN	180	W	L	Polymorphism	-
P01891	1A68_HUMAN	101	D	N	Polymorphism	-
P01891	1A68_HUMAN	36	V	M	Polymorphism	-
P01891	1A68_HUMAN	129	S	P	Polymorphism	-
P01892	1A02_HUMAN	65	A	G	Polymorphism	-
P01892	1A02_HUMAN	190	E	D	Polymorphism	-
P01892	1A02_HUMAN	97	T	I	Polymorphism	-
P01892	1A02_HUMAN	33	F	Y	Polymorphism	-
P01892	1A02_HUMAN	123	Y	F	Polymorphism	-
P01892	1A02_HUMAN	89	R	G	Polymorphism	-
P01892	1A02_HUMAN	123	Y	C	Polymorphism	-
P01892	1A02_HUMAN	260	A	E	Polymorphism	-
P01892	1A02_HUMAN	191	W	G	Polymorphism	-
P01892	1A02_HUMAN	162	M	K	Polymorphism	-
P01892	1A02_HUMAN	98	H	D	Polymorphism	-
P01892	1A02_HUMAN	180	L	W	Polymorphism	-
P01892	1A02_HUMAN	119	V	L	Polymorphism	-
P01892	1A02_HUMAN	173	A	T	Polymorphism	-
P01892	1A02_HUMAN	121	R	M	Polymorphism	-
P01892	1A02_HUMAN	176	V	E	Polymorphism	-
P01892	1A02_HUMAN	94	H	Q	Polymorphism	-
P01892	1A02_HUMAN	131	W	G	Polymorphism	-
P01892	1A02_HUMAN	180	L	Q	Polymorphism	-
P01892	1A02_HUMAN	90	K	N	Polymorphism	-
P01892	1A02_HUMAN	54	D	N	Polymorphism	-
P01892	1A02_HUMAN	67	Q	R	Polymorphism	-
P01892	1A02_HUMAN	187	T	E	Polymorphism	-
P01903	DRA_HUMAN	242	V	L	Polymorphism	-
P01903	DRA_HUMAN	16	V	L	Polymorphism	-
P01906	DQA2_HUMAN	247	G	D	Polymorphism	-
P01906	DQA2_HUMAN	227	V	A	Polymorphism	-
P01909	DQA1_HUMAN	101	R	C	Polymorphism	-
P01909	DQA1_HUMAN	91	L	T	Polymorphism	-
P01909	DQA1_HUMAN	71	L	W	Polymorphism	-
P01909	DQA1_HUMAN	97	S	I	Polymorphism	-
P01909	DQA1_HUMAN	124	L	V	Polymorphism	-
P01909	DQA1_HUMAN	77	F	L	Polymorphism	-
P01909	DQA1_HUMAN	81	P	R	Polymorphism	-
P01909	DQA1_HUMAN	230	G	C	Polymorphism	-
P01909	DQA1_HUMAN	98	L	V	Polymorphism	-
P01909	DQA1_HUMAN	70	C	R	Polymorphism	-
P01909	DQA1_HUMAN	75	R	S	Polymorphism	-
P01909	DQA1_HUMAN	160	T	I	Polymorphism	-
P01909	DQA1_HUMAN	161	S	R	Polymorphism	-
P01909	DQA1_HUMAN	83	F	G	Polymorphism	-
P01909	DQA1_HUMAN	25	D	G	Polymorphism	-
P01909	DQA1_HUMAN	76	Q	K	Polymorphism	-
P01909	DQA1_HUMAN	73	V	E	Polymorphism	-
P01909	DQA1_HUMAN	98	L	M	Polymorphism	-
P01909	DQA1_HUMAN	91	L	A	Polymorphism	-
P01909	DQA1_HUMAN	221	A	T	Polymorphism	-
P01909	DQA1_HUMAN	75	R	H	Polymorphism	-
P01909	DQA1_HUMAN	76	Q	R	Polymorphism	-
P01909	DQA1_HUMAN	152	S	A	Polymorphism	-
P01909	DQA1_HUMAN	209	A	T	Polymorphism	-
P01909	DQA1_HUMAN	70	C	Q	Polymorphism	-
P01909	DQA1_HUMAN	64	R	K	Polymorphism	-
P01909	DQA1_HUMAN	129	I	T	Polymorphism	-
P01909	DQA1_HUMAN	24	E	K	Polymorphism	-
P01909	DQA1_HUMAN	74	L	F	Polymorphism	-
P01909	DQA1_HUMAN	197	K	Q	Polymorphism	-
P01909	DQA1_HUMAN	151	H	Q	Polymorphism	-
P01909	DQA1_HUMAN	68	V	A	Polymorphism	-
P01909	DQA1_HUMAN	70	C	K	Polymorphism	-
P01909	DQA1_HUMAN	197	K	E	Polymorphism	-
P01909	DQA1_HUMAN	67	T	A	Polymorphism	-
P01909	DQA1_HUMAN	102	S	Y	Polymorphism	-
P01909	DQA1_HUMAN	175	Y	H	Polymorphism	-
P01909	DQA1_HUMAN	34	Y	C	Polymorphism	-
P01909	DQA1_HUMAN	240	R	Q	Polymorphism	-
P01909	DQA1_HUMAN	237	F	L	Polymorphism	-
P01909	DQA1_HUMAN	183	E	D	Polymorphism	-
P01909	DQA1_HUMAN	18	M	T	Polymorphism	-
P01909	DQA1_HUMAN	48	Y	F	Polymorphism	-
P01909	DQA1_HUMAN	44	P	L	Polymorphism	-
P01909	DQA1_HUMAN	17	V	M	Polymorphism	-
P01909	DQA1_HUMAN	178	L	F	Polymorphism	-
P01909	DQA1_HUMAN	49	T	S	Polymorphism	-
P01909	DQA1_HUMAN	161	S	I	Polymorphism	-
P01909	DQA1_HUMAN	63	G	E	Polymorphism	-
P01909	DQA1_HUMAN	73	V	L	Polymorphism	-
P01909	DQA1_HUMAN	41	S	F	Polymorphism	-
P01909	DQA1_HUMAN	11	A	T	Polymorphism	-
P01909	DQA1_HUMAN	229	V	M	Polymorphism	-
P01909	DQA1_HUMAN	182	A	D	Polymorphism	-
P01909	DQA1_HUMAN	182	A	S	Polymorphism	-
P01909	DQA1_HUMAN	88	I	M	Polymorphism	-
P01909	DQA1_HUMAN	57	Q	E	Polymorphism	-
P01909	DQA1_HUMAN	185	S	I	Polymorphism	-
P01909	DQA1_HUMAN	70	C	Y	Polymorphism	-
P01909	DQA1_HUMAN	86	T	R	Polymorphism	-
P01909	DQA1_HUMAN	73	V	D	Polymorphism	-
P01909	DQA1_HUMAN	8	M	L	Polymorphism	-
P01911	2B1F_HUMAN	106	T	N	Polymorphism	-
P01911	2B1F_HUMAN	55	F	Y	Polymorphism	-
P01911	2B1F_HUMAN	164	G	S	Polymorphism	-
P01911	2B1F_HUMAN	5	K	R	Polymorphism	-
P01911	2B1F_HUMAN	262	T	R	Polymorphism	-
P01911	2B1F_HUMAN	59	Y	H	Polymorphism	-
P01911	2B1F_HUMAN	115	V	G	Polymorphism	-
P01911	2B1F_HUMAN	96	I	F	Polymorphism	-
P01912	2B13_HUMAN	55	Y	F	Polymorphism	-
P01912	2B13_HUMAN	164	G	S	Polymorphism	-
P01912	2B13_HUMAN	106	N	T	Polymorphism	-
P01920	DQB1_HUMAN	77	E	G	Polymorphism	-
P01920	DQB1_HUMAN	62	Y	S	Polymorphism	-
P01920	DQB1_HUMAN	235	I	V	Polymorphism	-
P01920	DQB1_HUMAN	70	A	V	Polymorphism	-
P01920	DQB1_HUMAN	60	T	S	Polymorphism	-
P01920	DQB1_HUMAN	253	H	Q	Polymorphism	-
P01920	DQB1_HUMAN	69	Y	I	Polymorphism	-
P01920	DQB1_HUMAN	199	H	R	Polymorphism	-
P01920	DQB1_HUMAN	85	L	Q	Polymorphism	-
P01920	DQB1_HUMAN	62	Y	H	Polymorphism	-
P01920	DQB1_HUMAN	218	V	A	Polymorphism	-
P01920	DQB1_HUMAN	84	P	L	Polymorphism	-
P01920	DQB1_HUMAN	87	P	R	Polymorphism	-
P01920	DQB1_HUMAN	79	Y	F	Polymorphism	-
P01920	DQB1_HUMAN	165	R	W	Polymorphism	-
P01920	DQB1_HUMAN	172	T	A	Polymorphism	-
P01920	DQB1_HUMAN	214	N	S	Polymorphism	-
P01920	DQB1_HUMAN	106	E	A	Polymorphism	-
P01920	DQB1_HUMAN	217	T	I	Polymorphism	-
P01920	DQB1_HUMAN	88	P	L	Polymorphism	-
P01920	DQB1_HUMAN	92	Y	N	Polymorphism	-
P01920	DQB1_HUMAN	78	V	E	Polymorphism	-
P01920	DQB1_HUMAN	81	A	V	Polymorphism	-
P01920	DQB1_HUMAN	107	L	V	Polymorphism	-
P01920	DQB1_HUMAN	202	V	I	Polymorphism	-
P01920	DQB1_HUMAN	117	L	V	Polymorphism	-
P01920	DQB1_HUMAN	157	A	S	Polymorphism	-
P01920	DQB1_HUMAN	69	Y	D	Polymorphism	-
P01920	DQB1_HUMAN	109	T	R	Polymorphism	-
P01920	DQB1_HUMAN	103	T	K	Polymorphism	-
P01920	DQB1_HUMAN	94	N	K	Polymorphism	-
P01920	DQB1_HUMAN	29	V	L	Polymorphism	-
P01920	DQB1_HUMAN	252	H	R	Polymorphism	-
P01920	DQB1_HUMAN	162	R	Q	Polymorphism	-
P01920	DQB1_HUMAN	70	A	T	Polymorphism	-
P01920	DQB1_HUMAN	229	S	N	Polymorphism	-
P01920	DQB1_HUMAN	121	T	G	Polymorphism	-
P01920	DQB1_HUMAN	118	E	A	Polymorphism	-
P01920	DQB1_HUMAN	119	L	F	Polymorphism	-
P01920	DQB1_HUMAN	89	D	V	Polymorphism	-
P01920	DQB1_HUMAN	168	Q	E	Polymorphism	-
P01920	DQB1_HUMAN	194	E	D	Polymorphism	-
P01920	DQB1_HUMAN	197	P	L	Polymorphism	-
P01920	DQB1_HUMAN	24	M	I	Polymorphism	-
P01920	DQB1_HUMAN	15	A	V	Polymorphism	-
P01920	DQB1_HUMAN	87	P	Q	Polymorphism	-
P01920	DQB1_HUMAN	165	R	Q	Polymorphism	-
P01920	DQB1_HUMAN	87	P	L	Polymorphism	-
P01920	DQB1_HUMAN	103	T	D	Polymorphism	-
P01920	DQB1_HUMAN	119	L	Y	Polymorphism	-
P01920	DQB1_HUMAN	98	E	D	Polymorphism	-
P01920	DQB1_HUMAN	102	R	G	Polymorphism	-
P01920	DQB1_HUMAN	106	E	S	Polymorphism	-
P01920	DQB1_HUMAN	59	V	L	Polymorphism	-
P01920	DQB1_HUMAN	41	Y	F	Polymorphism	-
P01920	DQB1_HUMAN	43	F	L	Polymorphism	-
P01920	DQB1_HUMAN	89	D	A	Polymorphism	-
P01920	DQB1_HUMAN	256	Q	R	Polymorphism	-
P01920	DQB1_HUMAN	99	V	D	Polymorphism	-
P01920	DQB1_HUMAN	95	S	R	Polymorphism	-
P01920	DQB1_HUMAN	118	E	G	Polymorphism	-
P01920	DQB1_HUMAN	116	Q	E	Polymorphism	-
P01920	DQB1_HUMAN	148	V	I	Polymorphism	-
P01920	DQB1_HUMAN	158	Q	H	Polymorphism	-
P01920	DQB1_HUMAN	41	Y	L	Polymorphism	-
P01920	DQB1_HUMAN	46	M	L	Polymorphism	-
P01920	DQB1_HUMAN	122	T	I	Polymorphism	-
P01920	DQB1_HUMAN	58	Y	L	Polymorphism	-
P01920	DQB1_HUMAN	103	T	A	Polymorphism	-
P01920	DQB1_HUMAN	167	D	G	Polymorphism	-
P01920	DQB1_HUMAN	99	V	I	Polymorphism	-
P01920	DQB1_HUMAN	102	R	E	Polymorphism	-
P01920	DQB1_HUMAN	23	A	S	Polymorphism	-
P01920	DQB1_HUMAN	27	T	S	Polymorphism	-
P01920	DQB1_HUMAN	157	A	G	Polymorphism	-
P01920	DQB1_HUMAN	12	G	D	Polymorphism	-
P01920	DQB1_HUMAN	6	A	S	Polymorphism	-
P01920	DQB1_HUMAN	28	P	S	Polymorphism	-
P01920	DQB1_HUMAN	45	A	G	Polymorphism	-
P01920	DQB1_HUMAN	58	Y	G	Polymorphism	-
P01920	DQB1_HUMAN	55	R	L	Polymorphism	-
P01920	DQB1_HUMAN	89	D	S	Polymorphism	-
P01920	DQB1_HUMAN	35	S	P	Polymorphism	-
P01920	DQB1_HUMAN	27	T	A	Polymorphism	-
P01920	DQB1_HUMAN	28	P	L	Polymorphism	-
P02042	HBD_HUMAN	3	H	R	Polymorphism	-
P02042	HBD_HUMAN	91	E	V	Polymorphism	-
P02042	HBD_HUMAN	21	V	E	Polymorphism	-
P02042	HBD_HUMAN	126	Q	E	Polymorphism	-
P02042	HBD_HUMAN	28	A	S	Polymorphism	-
P02042	HBD_HUMAN	2	V	A	Polymorphism	-
P02042	HBD_HUMAN	17	G	R	Polymorphism	-
P02042	HBD_HUMAN	100	D	N	Polymorphism	-
P02042	HBD_HUMAN	86	F	S	Polymorphism	-
P02042	HBD_HUMAN	5	T	S	Polymorphism	-
P02042	HBD_HUMAN	117	R	C	Polymorphism	-
P02042	HBD_HUMAN	142	L	P	Polymorphism	-
P02042	HBD_HUMAN	12	V	G	Polymorphism	-
P02042	HBD_HUMAN	117	R	H	Polymorphism	-
P02042	HBD_HUMAN	5	T	I	Polymorphism	-
P02042	HBD_HUMAN	143	A	D	Polymorphism	-
P02042	HBD_HUMAN	147	H	R	Polymorphism	-
P02042	HBD_HUMAN	88	Q	K	Polymorphism	-
P02042	HBD_HUMAN	137	G	D	Polymorphism	-
P02042	HBD_HUMAN	11	A	D	Unclassified	-
P02042	HBD_HUMAN	122	E	V	Polymorphism	-
P02042	HBD_HUMAN	3	H	L	Polymorphism	-
P02042	HBD_HUMAN	99	V	M	Polymorphism	-
P02042	HBD_HUMAN	13	N	K	Polymorphism	-
P02042	HBD_HUMAN	89	L	V	Polymorphism	-
P02042	HBD_HUMAN	37	P	H	Polymorphism	-
P02042	HBD_HUMAN	23	A	E	Polymorphism	-
P02042	HBD_HUMAN	58	N	K	Polymorphism	-
P02042	HBD_HUMAN	44	E	G	Polymorphism	-
P02042	HBD_HUMAN	134	V	A	Polymorphism	-
P02042	HBD_HUMAN	71	A	G	Polymorphism	-
P02042	HBD_HUMAN	44	E	K	Polymorphism	-
P02042	HBD_HUMAN	70	G	R	Polymorphism	-
P02042	HBD_HUMAN	26	G	D	Polymorphism	-
P02042	HBD_HUMAN	94	C	G	Polymorphism	-
P02042	HBD_HUMAN	105	R	S	Polymorphism	-
P02042	HBD_HUMAN	141	A	V	Polymorphism	-
P02042	HBD_HUMAN	27	E	D	Polymorphism	-
P02042	HBD_HUMAN	25	G	D	Polymorphism	-
P02042	HBD_HUMAN	118	N	D	Polymorphism	-
P02042	HBD_HUMAN	76	L	V	Polymorphism	-
P02042	HBD_HUMAN	48	D	V	Polymorphism	-
P02042	HBD_HUMAN	52	P	R	Polymorphism	-
P02144	MYG_HUMAN	55	E	K	Polymorphism	-
P02144	MYG_HUMAN	140	R	Q	Polymorphism	-
P02144	MYG_HUMAN	134	K	N	Polymorphism	-
P02144	MYG_HUMAN	140	R	W	Polymorphism	-
P02452	CO1A1_HUMAN	767	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	884	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	401	G	C	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	605	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	926	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	422	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	764	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	743	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1219	D	N	Unclassified	-
P02452	CO1A1_HUMAN	743	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1075	T	A	Polymorphism	-
P02452	CO1A1_HUMAN	353	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	533	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1434	T	S	Polymorphism	-
P02452	CO1A1_HUMAN	349	V	F	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	809	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1010	G	S	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	404	G	C	Unclassified	-
P02452	CO1A1_HUMAN	776	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	425	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	855	N	H	Unclassified	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	266	G	E	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	530	G	S	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	1187	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	980	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	527	G	C	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	1076	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	530	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1388	L	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	287	G	S	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	1277	D	H	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	197	G	R	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	1025	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	383	G	C	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	815	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	434	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	701	G	C	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	389	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	398	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	272	G	C	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	530	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	906	G	S	Unclassified	-
P02452	CO1A1_HUMAN	288	E	V	Unclassified	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1431	T	P	Polymorphism	-
P02452	CO1A1_HUMAN	842	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	647	G	S	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	1088	G	E	Unclassified	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	555	P	R	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	548	G	A	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1430	K	N	Polymorphism	-
P02452	CO1A1_HUMAN	194	G	R	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	574	R	C	Unclassified	-
P02452	CO1A1_HUMAN	353	G	C	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	560	G	S	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	263	G	V	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	1022	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	845	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1061	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	848	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	823	P	A	Polymorphism	-
P02452	CO1A1_HUMAN	1195	G	C	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	866	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1413	D	N	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1187	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	353	G	S	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	1184	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	509	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1022	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	320	G	V	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	884	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	839	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	242	G	D	Unclassified	-
P02452	CO1A1_HUMAN	203	G	V	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	704	G	C	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	1219	D	E	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	1019	G	A	Polymorphism	-
P02452	CO1A1_HUMAN	947	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	476	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	740	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	221	G	C	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	896	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	821	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	1061	G	S	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	1079	G	S	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	719	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	728	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1438	P	R	Polymorphism	-
P02452	CO1A1_HUMAN	1040	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	833	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	455	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1187	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	564	R	H	Polymorphism	-
P02452	CO1A1_HUMAN	581	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1058	G	S	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	773	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1049	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	1043	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	146	P	T	Unclassified	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	312	R	C	Disease	Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
P02452	CO1A1_HUMAN	896	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1464	L	P	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	350	G	R	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	614	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1312	W	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	593	G	C	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	338	G	C	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	224	G	C	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	869	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1079	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	602	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	851	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1356	R	H	Polymorphism	-
P02452	CO1A1_HUMAN	1391	Q	K	Polymorphism	-
P02452	CO1A1_HUMAN	875	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	866	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	824	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	398	G	A	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	1100	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	560	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1181	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	288	E	K	Unclassified	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	737	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1106	G	A	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	22	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	200	G	V	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	593	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	470	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	977	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	197	G	C	Polymorphism	-
P02452	CO1A1_HUMAN	368	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1058	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	569	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	560	G	C	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	1460	P	H	Polymorphism	-
P02452	CO1A1_HUMAN	1040	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	1124	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1082	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1066	R	C	Disease	-
P02452	CO1A1_HUMAN	734	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1251	S	T	Polymorphism	-
P02452	CO1A1_HUMAN	390	A	T	Unclassified	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	722	G	S	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	1151	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	356	G	C	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	683	G	S	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	1151	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	257	G	R	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452	CO1A1_HUMAN	1177	V	I	Polymorphism	-
P02452	CO1A1_HUMAN	275	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1094	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	593	G	C	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	389	G	C	Unclassified	-
P02452	CO1A1_HUMAN	1001	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	263	G	R	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	205	P	A	Polymorphism	-
P02452	CO1A1_HUMAN	1091	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1088	G	A	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1141	R	Q	Polymorphism	-
P02452	CO1A1_HUMAN	1014	R	C	Disease	Caffey disease (CAFFD) [MIM:114000]
P02452	CO1A1_HUMAN	593	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	719	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	1172	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1055	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	332	G	R	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452	CO1A1_HUMAN	1142	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1154	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	656	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452	CO1A1_HUMAN	1093	R	C	Unclassified	-
P02452	CO1A1_HUMAN	1157	G	D	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452	CO1A1_HUMAN	1166	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02458	CO2A1_HUMAN	1158	G	A	Disease	Stickler syndrome 1 (STL1) [MIM:108300]
P02458	CO2A1_HUMAN	969	G	S	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	1176	G	V	Unclassified	-
P02458	CO2A1_HUMAN	989	R	C	Disease	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458	CO2A1_HUMAN	1170	G	S	Disease	Avascular necrosis of femoral head, primary, 1 (ANFH1) [MIM:608805]
P02458	CO2A1_HUMAN	1459	R	C	Polymorphism	-
P02458	CO2A1_HUMAN	1065	G	V	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	547	D	V	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	1179	G	R	Unclassified	-
P02458	CO2A1_HUMAN	855	G	S	Disease	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458	CO2A1_HUMAN	1173	G	R	Disease	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458	CO2A1_HUMAN	516	G	D	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	1197	G	S	Disease	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458	CO2A1_HUMAN	909	G	C	Disease	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
P02458	CO2A1_HUMAN	142	E	D	Polymorphism	-
P02458	CO2A1_HUMAN	207	G	R	Disease	Spondyloepiphyseal dysplasia, Stanescu type (SEDSTN) [MIM:616583]
P02458	CO2A1_HUMAN	804	G	A	Unclassified	-
P02458	CO2A1_HUMAN	717	G	S	Disease	Avascular necrosis of femoral head, primary, 1 (ANFH1) [MIM:608805]
P02458	CO2A1_HUMAN	501	G	R	Disease	Stickler syndrome 1 (STL1) [MIM:108300]
P02458	CO2A1_HUMAN	981	G	S	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	453	G	A	Disease	Stickler syndrome 1 (STL1) [MIM:108300]
P02458	CO2A1_HUMAN	891	G	R	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	1119	G	R	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	158	P	L	Polymorphism	-
P02458	CO2A1_HUMAN	894	G	E	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	282	G	D	Disease	Stickler syndrome 1 (STL1) [MIM:108300]
P02458	CO2A1_HUMAN	1331	V	I	Polymorphism	-
P02458	CO2A1_HUMAN	1170	G	S	Disease	Legg-Calve-Perthes disease (LCPD) [MIM:150600]
P02458	CO2A1_HUMAN	1383	T	M	Disease	Avascular necrosis of femoral head, primary, 1 (ANFH1) [MIM:608805]
P02458	CO2A1_HUMAN	904	R	C	Disease	Stickler syndrome 1 (STL1) [MIM:108300]
P02458	CO2A1_HUMAN	891	G	R	Disease	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458	CO2A1_HUMAN	897	G	V	Disease	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
P02458	CO2A1_HUMAN	565	R	C	Disease	Stickler syndrome 1 (STL1) [MIM:108300]
P02458	CO2A1_HUMAN	504	G	C	Disease	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
P02458	CO2A1_HUMAN	771	G	A	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	318	G	R	Disease	Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]
P02458	CO2A1_HUMAN	9	T	S	Polymorphism	-
P02458	CO2A1_HUMAN	780	G	R	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	453	G	V	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	1439	T	M	Disease	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458	CO2A1_HUMAN	904	R	C	Disease	Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]
P02458	CO2A1_HUMAN	510	G	D	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	303	G	D	Disease	Kniest dysplasia (KD) [MIM:156550]
P02458	CO2A1_HUMAN	275	R	C	Disease	Czech dysplasia (CZECHD) [MIM:609162]
P02458	CO2A1_HUMAN	492	G	V	Disease	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
P02458	CO2A1_HUMAN	992	R	G	Disease	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
P02458	CO2A1_HUMAN	447	G	S	Disease	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458	CO2A1_HUMAN	1051	A	T	Polymorphism	-
P02458	CO2A1_HUMAN	1390	T	N	Disease	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
P02458	CO2A1_HUMAN	717	G	V	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	1143	G	S	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	771	G	D	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	1053	G	E	Polymorphism	-
P02458	CO2A1_HUMAN	948	G	D	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	1485	C	G	Disease	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
P02458	CO2A1_HUMAN	240	G	D	Disease	Stickler syndrome 1 (STL1) [MIM:108300]
P02458	CO2A1_HUMAN	719	R	C	Disease	Osteoarthritis with mild chondrodysplasia (OSCDP) [MIM:604864]
P02458	CO2A1_HUMAN	375	G	R	Disease	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458	CO2A1_HUMAN	1305	G	D	Polymorphism	-
P02458	CO2A1_HUMAN	1391	Y	C	Disease	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
P02458	CO2A1_HUMAN	667	L	F	Disease	Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]
P02458	CO2A1_HUMAN	1469	D	H	Disease	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
P02458	CO2A1_HUMAN	1176	G	S	Disease	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458	CO2A1_HUMAN	1448	T	P	Disease	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
P02458	CO2A1_HUMAN	1113	G	C	Unclassified	-
P02458	CO2A1_HUMAN	1188	G	R	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	513	G	S	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	453	G	D	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	795	G	R	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	267	G	D	Disease	Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508]
P02458	CO2A1_HUMAN	774	G	S	Disease	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458	CO2A1_HUMAN	354	G	R	Polymorphism	-
P02458	CO2A1_HUMAN	57	C	Y	Disease	Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508]
P02458	CO2A1_HUMAN	1110	G	C	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	1017	G	V	Disease	Achondrogenesis 2 (ACG2) [MIM:200610]
P02458	CO2A1_HUMAN	1405	G	S	Polymorphism	-
P02458	CO2A1_HUMAN	638	T	I	Polymorphism	-
P02458	CO2A1_HUMAN	270	G	R	Disease	Stickler syndrome 1 (STL1) [MIM:108300]
P02458	CO2A1_HUMAN	1005	G	S	Polymorphism	-
P02461	CO3A1_HUMAN	249	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	249	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	501	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1161	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	489	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1014	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1170	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	519	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	252	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	252	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	264	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1205	I	V	Polymorphism	-
P02461	CO3A1_HUMAN	255	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1176	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1104	G	A	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	252	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	909	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	738	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1044	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	762	G	C	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	345	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	960	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1179	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	169	L	F	Polymorphism	-
P02461	CO3A1_HUMAN	267	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	698	A	T	Polymorphism	-
P02461	CO3A1_HUMAN	243	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1098	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1098	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	327	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1077	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1182	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	602	P	T	Polymorphism	-
P02461	CO3A1_HUMAN	786	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	303	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	936	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1101	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	321	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1173	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	588	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	852	G	C	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	900	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1170	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	936	G	S	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1071	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	957	G	S	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	582	G	S	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1089	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	540	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	726	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	635	P	L	Polymorphism	-
P02461	CO3A1_HUMAN	420	G	S	Unclassified	A colorectal cancer sample
P02461	CO3A1_HUMAN	1050	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	552	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	882	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	228	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	939	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	567	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	183	G	C	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1167	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1164	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	879	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1164	G	S	Unclassified	-
P02461	CO3A1_HUMAN	225	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	738	G	S	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	192	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1164	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	666	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	828	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1434	R	C	Unclassified	A colorectal cancer sample
P02461	CO3A1_HUMAN	804	G	S	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	297	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	756	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1032	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	219	G	C	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	183	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	679	A	T	Polymorphism	-
P02461	CO3A1_HUMAN	201	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	534	G	E	Polymorphism	-
P02461	CO3A1_HUMAN	999	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	996	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1173	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1011	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	909	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	918	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	699	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	984	G	T	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	444	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	636	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	417	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	240	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	744	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	183	G	S	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	942	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	972	G	A	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	924	G	C	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	828	G	W	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1185	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1353	H	Q	Polymorphism	-
P02461	CO3A1_HUMAN	657	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	549	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	966	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	204	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1188	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	668	P	T	Polymorphism	-
P02461	CO3A1_HUMAN	686	P	A	Polymorphism	-
P02461	CO3A1_HUMAN	1035	G	C	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	204	G	S	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1188	G	R	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	903	G	E	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	660	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1050	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	1185	G	V	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02461	CO3A1_HUMAN	210	G	D	Disease	Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
P02462	CO4A1_HUMAN	1334	Q	H	Polymorphism	-
P02462	CO4A1_HUMAN	498	G	R	Disease	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
P02462	CO4A1_HUMAN	1130	G	D	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	1580	G	R	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	948	G	S	Disease	Schizencephaly (SCHZC) [MIM:269160]
P02462	CO4A1_HUMAN	1236	G	R	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	7	V	L	Polymorphism	-
P02462	CO4A1_HUMAN	510	G	R	Disease	Tortuosity of retinal arteries (RATOR) [MIM:180000]
P02462	CO4A1_HUMAN	304	P	L	Polymorphism	-
P02462	CO4A1_HUMAN	1326	G	R	Disease	Schizencephaly (SCHZC) [MIM:269160]
P02462	CO4A1_HUMAN	1531	M	V	Polymorphism	-
P02462	CO4A1_HUMAN	555	P	T	Polymorphism	-
P02462	CO4A1_HUMAN	1041	G	E	Disease	Schizencephaly (SCHZC) [MIM:269160]
P02462	CO4A1_HUMAN	805	G	R	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	352	P	L	Disease	Intracerebral hemorrhage (ICH) [MIM:614519]
P02462	CO4A1_HUMAN	538	R	G	Disease	Intracerebral hemorrhage (ICH) [MIM:614519]
P02462	CO4A1_HUMAN	144	A	V	Polymorphism	-
P02462	CO4A1_HUMAN	1332	G	D	Disease	Schizencephaly (SCHZC) [MIM:269160]
P02462	CO4A1_HUMAN	773	G	R	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	519	G	R	Disease	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
P02462	CO4A1_HUMAN	1082	G	E	Disease	Schizencephaly (SCHZC) [MIM:269160]
P02462	CO4A1_HUMAN	1266	G	R	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	708	G	R	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	510	G	R	Disease	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
P02462	CO4A1_HUMAN	1615	E	K	Disease	Schizencephaly (SCHZC) [MIM:269160]
P02462	CO4A1_HUMAN	1627	N	K	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	1423	G	R	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	882	G	D	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	897	G	S	Disease	Schizencephaly (SCHZC) [MIM:269160]
P02462	CO4A1_HUMAN	870	G	R	Disease	Schizencephaly (SCHZC) [MIM:269160]
P02462	CO4A1_HUMAN	528	G	E	Disease	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
P02462	CO4A1_HUMAN	749	G	S	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	498	G	V	Disease	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
P02462	CO4A1_HUMAN	720	G	D	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	525	G	L	Disease	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
P02462	CO4A1_HUMAN	655	G	R	Disease	Schizencephaly (SCHZC) [MIM:269160]
P02462	CO4A1_HUMAN	562	G	E	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02462	CO4A1_HUMAN	755	G	R	Disease	Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
P02489	CRYAA_HUMAN	116	R	H	Disease	Cataract 9, multiple types (CTRCT9) [MIM:604219]
P02489	CRYAA_HUMAN	105	D	H	Unclassified	A breast cancer sample
P02489	CRYAA_HUMAN	12	R	C	Disease	Cataract 9, multiple types (CTRCT9) [MIM:604219]
P02489	CRYAA_HUMAN	21	R	L	Disease	Cataract 9, multiple types (CTRCT9) [MIM:604219]
P02489	CRYAA_HUMAN	49	R	C	Disease	Cataract 9, multiple types (CTRCT9) [MIM:604219]
P02489	CRYAA_HUMAN	116	R	C	Disease	Cataract 9, multiple types (CTRCT9) [MIM:604219]
P02511	CRYAB_HUMAN	154	G	S	Disease	Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184]
P02511	CRYAB_HUMAN	109	D	G	Disease	-
P02511	CRYAB_HUMAN	109	D	H	Disease	Myopathy, myofibrillar, 2 (MFM2) [MIM:608810]
P02511	CRYAB_HUMAN	120	R	G	Disease	Myopathy, myofibrillar, 2 (MFM2) [MIM:608810]
P02511	CRYAB_HUMAN	157	R	H	Disease	Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184]
P02511	CRYAB_HUMAN	41	S	Y	Polymorphism	-
P02511	CRYAB_HUMAN	51	P	L	Polymorphism	-
P02533	K1C14_HUMAN	94	A	T	Polymorphism	-
P02533	K1C14_HUMAN	116	K	N	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	133	V	L	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P02533	K1C14_HUMAN	417	R	P	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	133	V	L	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	133	V	A	Polymorphism	-
P02533	K1C14_HUMAN	119	M	V	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P02533	K1C14_HUMAN	388	R	H	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	63	C	Y	Polymorphism	-
P02533	K1C14_HUMAN	125	R	G	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	418	L	Q	Disease	-
P02533	K1C14_HUMAN	415	Y	C	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	388	R	C	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	422	E	K	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	274	A	D	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	408	L	M	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	144	E	A	Disease	Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]
P02533	K1C14_HUMAN	122	L	F	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P02533	K1C14_HUMAN	384	L	P	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P02533	K1C14_HUMAN	123	N	S	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	273	D	G	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	270	V	M	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	148	R	C	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	125	R	S	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	134	R	P	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P02533	K1C14_HUMAN	377	I	N	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	416	R	P	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	143	L	P	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P02533	K1C14_HUMAN	272	M	T	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P02533	K1C14_HUMAN	415	Y	H	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P02533	K1C14_HUMAN	129	Y	D	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	247	A	D	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P02533	K1C14_HUMAN	119	M	I	Polymorphism	-
P02533	K1C14_HUMAN	413	A	T	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P02533	K1C14_HUMAN	123	N	K	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	119	M	T	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	122	L	F	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	419	L	Q	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	215	E	K	Polymorphism	-
P02533	K1C14_HUMAN	120	Q	R	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	272	M	R	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P02533	K1C14_HUMAN	211	R	P	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	125	R	H	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	130	L	P	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02533	K1C14_HUMAN	119	M	V	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P02533	K1C14_HUMAN	125	R	C	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P02538	K2C6A_HUMAN	171	N	K	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	174	F	V	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	469	L	R	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	462	I	N	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	178	I	N	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	465	Y	S	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	111	G	D	Polymorphism	-
P02538	K2C6A_HUMAN	174	F	S	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	170	L	F	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	464	T	P	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	171	N	S	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	176	S	P	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	463	A	P	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	171	N	Y	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	174	F	C	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	166	Q	P	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	465	Y	H	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	462	I	S	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	468	L	P	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	167	I	N	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	21	N	S	Polymorphism	-
P02538	K2C6A_HUMAN	472	E	K	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	171	N	D	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	164	R	P	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	469	L	P	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02538	K2C6A_HUMAN	468	L	Q	Disease	Pachyonychia congenita 3 (PC3) [MIM:615726]
P02545	LMNA_HUMAN	39	N	S	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	527	R	H	Disease	Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]
P02545	LMNA_HUMAN	125	G	S	Polymorphism	-
P02545	LMNA_HUMAN	57	A	P	Disease	Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112]
P02545	LMNA_HUMAN	145	E	K	Disease	Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545	LMNA_HUMAN	515	K	E	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	190	R	Q	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	271	L	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	349	R	L	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	133	R	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	582	R	H	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	249	R	W	Disease	Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545	LMNA_HUMAN	230	D	N	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	298	R	C	Disease	Charcot-Marie-Tooth disease 2B1 (CMT2B1) [MIM:605588]
P02545	LMNA_HUMAN	471	R	C	Disease	Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545	LMNA_HUMAN	249	R	W	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	161	E	K	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	50	R	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	439	R	C	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	527	R	C	Disease	Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545	LMNA_HUMAN	453	R	P	Disease	Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545	LMNA_HUMAN	380	L	S	Disease	Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545	LMNA_HUMAN	317	E	K	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	267	Y	C	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	39	N	S	Disease	Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545	LMNA_HUMAN	413	G	C	Polymorphism	-
P02545	LMNA_HUMAN	143	S	P	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	195	N	K	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	399	R	C	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	133	R	L	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	377	R	H	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	608	G	S	Disease	Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545	LMNA_HUMAN	295	S	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	248	L	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	471	R	H	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	302	L	P	Disease	Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545	LMNA_HUMAN	399	R	C	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	377	R	L	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	435	R	C	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	190	R	Q	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	419	R	C	Polymorphism	-
P02545	LMNA_HUMAN	222	H	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	59	L	R	Disease	Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112]
P02545	LMNA_HUMAN	455	R	P	Disease	Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545	LMNA_HUMAN	421	L	P	Polymorphism	-
P02545	LMNA_HUMAN	631	G	D	Disease	-
P02545	LMNA_HUMAN	624	R	H	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	303	S	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	411	G	D	Disease	-
P02545	LMNA_HUMAN	541	R	S	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	232	G	E	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	529	A	V	Disease	Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]
P02545	LMNA_HUMAN	50	R	S	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	60	R	G	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	60	R	G	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	259	Y	C	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	215	L	P	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	573	S	L	Disease	Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]
P02545	LMNA_HUMAN	644	R	C	Disease	Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545	LMNA_HUMAN	343	R	Q	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	336	R	Q	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	573	S	L	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	361	E	K	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	542	K	N	Disease	Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545	LMNA_HUMAN	192	D	G	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	24	T	S	Disease	Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516]
P02545	LMNA_HUMAN	143	S	F	Disease	Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545	LMNA_HUMAN	415	V	I	Unclassified	-
P02545	LMNA_HUMAN	45	Y	C	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	456	N	D	Disease	Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545	LMNA_HUMAN	166	R	P	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	371	M	K	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	482	R	L	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	386	R	K	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	85	L	R	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	203	E	K	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	190	R	W	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	528	T	K	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	481	Y	H	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	427	R	G	Polymorphism	-
P02545	LMNA_HUMAN	300	D	G	Disease	Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545	LMNA_HUMAN	488	T	P	Polymorphism	-
P02545	LMNA_HUMAN	206	F	L	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	140	L	R	Disease	Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545	LMNA_HUMAN	358	E	K	Disease	Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545	LMNA_HUMAN	482	R	W	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	249	R	Q	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	10	T	I	Unclassified	-
P02545	LMNA_HUMAN	541	R	S	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	189	R	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	150	T	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	63	I	N	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	456	N	K	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	358	E	K	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	268	S	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	578	E	V	Polymorphism	-
P02545	LMNA_HUMAN	101	R	P	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	388	R	H	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	401	R	C	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	469	I	T	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	482	R	Q	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	294	Q	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	486	K	N	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	89	R	L	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	33	E	G	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	210	I	S	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	453	R	W	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	527	R	P	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	530	L	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	318	A	T	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	203	E	G	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	573	S	L	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	140	L	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	63	I	S	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	528	T	R	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	35	L	V	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	260	K	N	Unclassified	-
P02545	LMNA_HUMAN	65	E	G	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	465	G	D	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	449	G	D	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	225	R	Q	Disease	Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516]
P02545	LMNA_HUMAN	541	R	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	446	D	V	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	33	E	D	Polymorphism	-
P02545	LMNA_HUMAN	520	W	S	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	62	R	G	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	541	R	C	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	456	N	I	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	97	K	E	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	28	R	W	Disease	Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545	LMNA_HUMAN	523	G	R	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	541	R	H	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	644	R	C	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	527	R	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	43	A	T	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	50	R	P	Disease	Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545	LMNA_HUMAN	467	W	R	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	25	R	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	222	H	Y	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	454	L	P	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	461	D	Y	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	92	L	F	Disease	Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545	LMNA_HUMAN	138	E	K	Disease	Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545	LMNA_HUMAN	25	R	G	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545	LMNA_HUMAN	602	G	S	Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02549	SPTA1_HUMAN	28	R	L	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	49	L	F	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	28	R	S	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	45	R	T	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	28	R	C	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	261	S	P	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	109	S	F	Polymorphism	-
P02549	SPTA1_HUMAN	151	G	D	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	791	D	E	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	45	R	S	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	28	R	H	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	207	L	P	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	41	R	W	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	46	G	V	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	957	A	V	Polymorphism	-
P02549	SPTA1_HUMAN	34	R	W	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	260	L	P	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	1330	R	I	Polymorphism	-
P02549	SPTA1_HUMAN	701	R	H	Polymorphism	-
P02549	SPTA1_HUMAN	1568	C	R	Polymorphism	-
P02549	SPTA1_HUMAN	1858	L	V	Polymorphism	-
P02549	SPTA1_HUMAN	471	Q	P	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	1163	S	A	Polymorphism	-
P02549	SPTA1_HUMAN	31	V	A	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	24	I	S	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	853	T	R	Polymorphism	-
P02549	SPTA1_HUMAN	1836	N	S	Polymorphism	-
P02549	SPTA1_HUMAN	207	L	P	Disease	Hereditary pyropoikilocytosis (HPP) [MIM:266140]
P02549	SPTA1_HUMAN	2025	A	G	Unclassified	-
P02549	SPTA1_HUMAN	970	A	D	Polymorphism	-
P02549	SPTA1_HUMAN	152	D	N	Polymorphism	-
P02549	SPTA1_HUMAN	1693	K	Q	Polymorphism	-
P02549	SPTA1_HUMAN	766	A	T	Polymorphism	-
P02549	SPTA1_HUMAN	469	H	P	Disease	Elliptocytosis 2 (EL2) [MIM:130600]
P02549	SPTA1_HUMAN	48	K	R	Disease	Hereditary pyropoikilocytosis (HPP) [MIM:266140]
P02549	SPTA1_HUMAN	2265	I	T	Polymorphism	-
P02549	SPTA1_HUMAN	809	I	V	Polymorphism	-
P02647	APOA1_HUMAN	173	R	S	Unclassified	-
P02647	APOA1_HUMAN	119	A	D	Unclassified	-
P02647	APOA1_HUMAN	168	L	R	Unclassified	-
P02647	APOA1_HUMAN	50	G	R	Disease	Amyloidosis 8 (AMYL8) [MIM:105200]
P02647	APOA1_HUMAN	189	P	R	Polymorphism	-
P02647	APOA1_HUMAN	163	E	G	Polymorphism	-
P02647	APOA1_HUMAN	171	E	V	Polymorphism	-
P02647	APOA1_HUMAN	184	R	P	Polymorphism	-
P02647	APOA1_HUMAN	197	R	C	Polymorphism	-
P02647	APOA1_HUMAN	84	L	R	Disease	Amyloidosis 8 (AMYL8) [MIM:105200]
P02647	APOA1_HUMAN	180	V	E	Polymorphism	-
P02647	APOA1_HUMAN	132	W	R	Unclassified	-
P02647	APOA1_HUMAN	160	E	K	Polymorphism	-
P02647	APOA1_HUMAN	134	E	K	Unclassified	-
P02647	APOA1_HUMAN	28	P	R	Polymorphism	-
P02647	APOA1_HUMAN	27	P	R	Polymorphism	-
P02647	APOA1_HUMAN	113	D	E	Polymorphism	-
P02647	APOA1_HUMAN	127	D	N	Polymorphism	-
P02647	APOA1_HUMAN	61	A	T	Polymorphism	-
P02647	APOA1_HUMAN	126	D	H	Polymorphism	-
P02647	APOA1_HUMAN	131	K	M	Polymorphism	-
P02647	APOA1_HUMAN	222	E	K	Polymorphism	-
P02647	APOA1_HUMAN	92	T	I	Polymorphism	-
P02647	APOA1_HUMAN	167	P	R	Polymorphism	-
P02647	APOA1_HUMAN	34	R	L	Polymorphism	-
P02647	APOA1_HUMAN	27	P	H	Polymorphism	-
P02649	APOE_HUMAN	314	S	R	Polymorphism	-
P02649	APOE_HUMAN	21	E	K	Polymorphism	-
P02649	APOE_HUMAN	254	V	E	Polymorphism	-
P02649	APOE_HUMAN	152	R	Q	Polymorphism	-
P02649	APOE_HUMAN	163	R	H	Unclassified	Hyperlipoproteinemia 3 (HLPP3) [MIM:617347]
P02649	APOE_HUMAN	270	L	E	Unclassified	-
P02649	APOE_HUMAN	292	R	H	Polymorphism	-
P02649	APOE_HUMAN	163	R	P	Disease	Lipoprotein glomerulopathy (LPG) [MIM:611771]
P02649	APOE_HUMAN	269	R	G	Polymorphism	-
P02649	APOE_HUMAN	124	A	V	Polymorphism	-
P02649	APOE_HUMAN	43	R	C	Disease	Lipoprotein glomerulopathy (LPG) [MIM:611771]
P02649	APOE_HUMAN	145	G	D	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P02649	APOE_HUMAN	64	Q	H	Polymorphism	-
P02649	APOE_HUMAN	242	R	Q	Polymorphism	-
P02649	APOE_HUMAN	246	R	C	Polymorphism	-
P02649	APOE_HUMAN	163	R	C	Disease	Familial hypercholesterolemia (FH) [MIM:143890]
P02649	APOE_HUMAN	117	A	T	Polymorphism	-
P02649	APOE_HUMAN	154	R	S	Disease	Hyperlipoproteinemia 3 (HLPP3) [MIM:617347]
P02649	APOE_HUMAN	154	R	C	Disease	Hyperlipoproteinemia 3 (HLPP3) [MIM:617347]
P02649	APOE_HUMAN	102	P	R	Polymorphism	-
P02649	APOE_HUMAN	46	L	P	Unclassified	Familial hypercholesterolemia (FH) [MIM:143890]
P02649	APOE_HUMAN	160	R	C	Disease	Hyperlipoproteinemia 3 (HLPP3) [MIM:617347]
P02649	APOE_HUMAN	163	R	C	Disease	Hyperlipoproteinemia 3 (HLPP3) [MIM:617347]
P02649	APOE_HUMAN	164	K	E	Disease	Hyperlipoproteinemia 3 (HLPP3) [MIM:617347]
P02649	APOE_HUMAN	130	C	R	Disease	Alzheimer disease 2 (AD2) [MIM:104310]
P02649	APOE_HUMAN	176	R	C	Disease	Hyperlipoproteinemia 3 (HLPP3) [MIM:617347]
P02649	APOE_HUMAN	31	E	K	Disease	Hyperlipoproteinemia 3 (HLPP3) [MIM:617347]
P02649	APOE_HUMAN	60	T	A	Polymorphism	-
P02649	APOE_HUMAN	99	Q	K	Polymorphism	-
P02649	APOE_HUMAN	164	K	Q	Disease	Hyperlipoproteinemia 3 (HLPP3) [MIM:617347]
P02649	APOE_HUMAN	130	C	R	Disease	Hyperlipoproteinemia 3 (HLPP3) [MIM:617347]
P02649	APOE_HUMAN	170	A	P	Polymorphism	-
P02654	APOC1_HUMAN	16	I	M	Polymorphism	-
P02654	APOC1_HUMAN	71	T	S	Polymorphism	-
P02655	APOC2_HUMAN	77	K	Q	Polymorphism	-
P02655	APOC2_HUMAN	48	W	R	Disease	Hyperlipoproteinemia 1B (HLPP1B) [MIM:207750]
P02655	APOC2_HUMAN	41	K	T	Polymorphism	-
P02655	APOC2_HUMAN	60	E	K	Polymorphism	-
P02656	APOC3_HUMAN	78	K	E	Disease	Hyperalphalipoproteinemia 2 (HALP2) [MIM:614028]
P02656	APOC3_HUMAN	94	T	A	Polymorphism	-
P02671	FIBA_HUMAN	55	C	R	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02671	FIBA_HUMAN	37	P	L	Polymorphism	-
P02671	FIBA_HUMAN	26	D	N	Polymorphism	-
P02671	FIBA_HUMAN	31	G	V	Polymorphism	-
P02671	FIBA_HUMAN	184	C	W	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02671	FIBA_HUMAN	35	R	C	Disease	Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004]
P02671	FIBA_HUMAN	38	R	G	Polymorphism	-
P02671	FIBA_HUMAN	456	T	A	Polymorphism	-
P02671	FIBA_HUMAN	160	R	S	Unclassified	-
P02671	FIBA_HUMAN	38	R	N	Unclassified	-
P02671	FIBA_HUMAN	446	K	E	Polymorphism	-
P02671	FIBA_HUMAN	39	V	D	Polymorphism	-
P02671	FIBA_HUMAN	66	S	T	Polymorphism	-
P02671	FIBA_HUMAN	573	R	C	Disease	Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004]
P02671	FIBA_HUMAN	6	I	V	Polymorphism	-
P02671	FIBA_HUMAN	35	R	H	Polymorphism	-
P02671	FIBA_HUMAN	38	R	S	Polymorphism	-
P02671	FIBA_HUMAN	129	R	P	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02671	FIBA_HUMAN	331	T	A	Polymorphism	-
P02671	FIBA_HUMAN	453	S	N	Polymorphism	-
P02671	FIBA_HUMAN	545	E	V	Disease	Amyloidosis 8 (AMYL8) [MIM:105200]
P02671	FIBA_HUMAN	573	R	L	Disease	Amyloidosis 8 (AMYL8) [MIM:105200]
P02675	FIBB_HUMAN	170	N	H	Polymorphism	-
P02675	FIBB_HUMAN	45	G	R	Unclassified	-
P02675	FIBB_HUMAN	100	P	S	Polymorphism	-
P02675	FIBB_HUMAN	478	R	K	Polymorphism	-
P02675	FIBB_HUMAN	383	L	R	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02675	FIBB_HUMAN	196	R	C	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02675	FIBB_HUMAN	74	R	C	Polymorphism	-
P02675	FIBB_HUMAN	365	A	T	Polymorphism	-
P02675	FIBB_HUMAN	44	R	C	Polymorphism	-
P02675	FIBB_HUMAN	265	P	L	Polymorphism	-
P02675	FIBB_HUMAN	95	C	R	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02675	FIBB_HUMAN	98	A	T	Disease	Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004]
P02675	FIBB_HUMAN	2	K	E	Polymorphism	-
P02675	FIBB_HUMAN	407	T	K	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02675	FIBB_HUMAN	202	L	Q	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02675	FIBB_HUMAN	430	G	D	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02679	FIBG_HUMAN	191	G	R	Polymorphism	-
P02679	FIBG_HUMAN	401	R	W	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02679	FIBG_HUMAN	318	G	V	Disease	Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004]
P02679	FIBG_HUMAN	303	T	P	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02679	FIBG_HUMAN	401	R	G	Polymorphism	-
P02679	FIBG_HUMAN	77	E	G	Polymorphism	-
P02679	FIBG_HUMAN	327	D	H	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02679	FIBG_HUMAN	384	S	C	Unclassified	-
P02679	FIBG_HUMAN	410	M	V	Polymorphism	-
P02679	FIBG_HUMAN	335	G	D	Unclassified	-
P02679	FIBG_HUMAN	334	N	K	Unclassified	-
P02679	FIBG_HUMAN	356	D	Y	Polymorphism	-
P02679	FIBG_HUMAN	345	N	D	Disease	Congenital afibrinogenemia (CAFBN) [MIM:202400]
P02679	FIBG_HUMAN	334	N	I	Polymorphism	-
P02679	FIBG_HUMAN	336	M	T	Polymorphism	-
P02679	FIBG_HUMAN	404	S	P	Disease	Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004]
P02679	FIBG_HUMAN	355	Q	R	Polymorphism	-
P02679	FIBG_HUMAN	356	D	V	Disease	Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004]
P02679	FIBG_HUMAN	140	Y	H	Polymorphism	-
P02679	FIBG_HUMAN	301	R	C	Polymorphism	-
P02679	FIBG_HUMAN	301	R	H	Disease	Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004]
P02679	FIBG_HUMAN	363	N	K	Unclassified	-
P02689	MYP2_HUMAN	43	I	N	Disease	Charcot-Marie-Tooth disease, demyelinating, 1G (CMT1G) [MIM:618279]
P02689	MYP2_HUMAN	52	I	T	Disease	Charcot-Marie-Tooth disease, demyelinating, 1G (CMT1G) [MIM:618279]
P02689	MYP2_HUMAN	51	T	P	Disease	Charcot-Marie-Tooth disease, demyelinating, 1G (CMT1G) [MIM:618279]
P02708	ACHA_HUMAN	299	T	I	Disease	Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
P02708	ACHA_HUMAN	463	C	W	Disease	Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
P02708	ACHA_HUMAN	201	V	M	Disease	Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
P02708	ACHA_HUMAN	301	F	L	Disease	Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930]
P02708	ACHA_HUMAN	198	G	S	Disease	Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
P02708	ACHA_HUMAN	383	D	V	Polymorphism	-
P02708	ACHA_HUMAN	254	R	L	Disease	Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]
P02708	ACHA_HUMAN	330	V	I	Disease	Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930]
P02708	ACHA_HUMAN	294	V	F	Disease	Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
P02708	ACHA_HUMAN	278	F	V	Disease	Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930]
P02708	ACHA_HUMAN	177	V	L	Disease	Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930]
P02708	ACHA_HUMAN	314	S	I	Disease	Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
P02708	ACHA_HUMAN	262	N	K	Disease	Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
P02724	GLPA_HUMAN	66	S	Y	Polymorphism	-
P02724	GLPA_HUMAN	82	Q	K	Polymorphism	-
P02724	GLPA_HUMAN	13	E	G	Polymorphism	-
P02724	GLPA_HUMAN	46	D	E	Polymorphism	-
P02724	GLPA_HUMAN	24	G	E	Polymorphism	-
P02724	GLPA_HUMAN	23	T	N	Polymorphism	-
P02724	GLPA_HUMAN	24	G	D	Polymorphism	-
P02724	GLPA_HUMAN	84	A	P	Polymorphism	-
P02724	GLPA_HUMAN	47	T	K	Polymorphism	-
P02724	GLPA_HUMAN	77	T	I	Polymorphism	-
P02724	GLPA_HUMAN	76	E	K	Polymorphism	-
P02724	GLPA_HUMAN	73	P	S	Polymorphism	-
P02724	GLPA_HUMAN	50	R	W	Polymorphism	-
P02724	GLPA_HUMAN	13	E	A	Polymorphism	-
P02724	GLPA_HUMAN	47	T	M	Polymorphism	-
P02724	GLPA_HUMAN	20	S	L	Polymorphism	-
P02724	GLPA_HUMAN	78	G	R	Polymorphism	-
P02730	B3AT_HUMAN	285	A	D	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	589	R	H	Disease	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
P02730	B3AT_HUMAN	854	P	L	Polymorphism	-
P02730	B3AT_HUMAN	488	V	M	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	658	E	K	Polymorphism	-
P02730	B3AT_HUMAN	688	I	V	Polymorphism	-
P02730	B3AT_HUMAN	518	R	C	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	690	S	G	Polymorphism	-
P02730	B3AT_HUMAN	73	L	M	Polymorphism	-
P02730	B3AT_HUMAN	455	G	E	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	90	E	K	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	589	R	S	Disease	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
P02730	B3AT_HUMAN	40	E	K	Unclassified	-
P02730	B3AT_HUMAN	808	R	H	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	586	M	L	Polymorphism	-
P02730	B3AT_HUMAN	429	E	D	Polymorphism	-
P02730	B3AT_HUMAN	561	P	A	Polymorphism	-
P02730	B3AT_HUMAN	327	P	R	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	858	A	D	Disease	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
P02730	B3AT_HUMAN	566	P	A	Polymorphism	-
P02730	B3AT_HUMAN	551	K	N	Polymorphism	-
P02730	B3AT_HUMAN	442	I	F	Polymorphism	-
P02730	B3AT_HUMAN	656	R	C	Polymorphism	-
P02730	B3AT_HUMAN	557	V	M	Polymorphism	-
P02730	B3AT_HUMAN	56	K	E	Polymorphism	-
P02730	B3AT_HUMAN	760	R	Q	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	490	R	C	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	68	E	K	Polymorphism	-
P02730	B3AT_HUMAN	602	R	P	Disease	Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA) [MIM:611590]
P02730	B3AT_HUMAN	480	E	K	Polymorphism	-
P02730	B3AT_HUMAN	837	T	R	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	27	P	H	Polymorphism	-
P02730	B3AT_HUMAN	731	S	P	Disease	Cryohydrocytosis (CHC) [MIM:185020]
P02730	B3AT_HUMAN	734	H	R	Disease	Cryohydrocytosis (CHC) [MIM:185020]
P02730	B3AT_HUMAN	609	G	R	Disease	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
P02730	B3AT_HUMAN	548	P	L	Polymorphism	-
P02730	B3AT_HUMAN	862	V	I	Polymorphism	-
P02730	B3AT_HUMAN	837	T	M	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	663	M	K	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	569	N	K	Polymorphism	-
P02730	B3AT_HUMAN	589	R	C	Disease	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
P02730	B3AT_HUMAN	707	L	P	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	147	P	S	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	455	G	R	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	701	G	D	Disease	Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA) [MIM:611590]
P02730	B3AT_HUMAN	773	S	P	Disease	Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC) [MIM:611590]
P02730	B3AT_HUMAN	771	G	D	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	72	E	D	Polymorphism	-
P02730	B3AT_HUMAN	490	R	H	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	808	R	C	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	868	P	L	Polymorphism	-
P02730	B3AT_HUMAN	130	G	R	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	687	L	P	Disease	Cryohydrocytosis (CHC) [MIM:185020]
P02730	B3AT_HUMAN	508	E	K	Polymorphism	-
P02730	B3AT_HUMAN	705	D	Y	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	837	T	A	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	432	R	W	Polymorphism	-
P02730	B3AT_HUMAN	555	Y	H	Polymorphism	-
P02730	B3AT_HUMAN	552	T	I	Polymorphism	-
P02730	B3AT_HUMAN	832	R	H	Polymorphism	-
P02730	B3AT_HUMAN	656	R	H	Polymorphism	-
P02730	B3AT_HUMAN	112	R	S	Polymorphism	-
P02730	B3AT_HUMAN	646	R	Q	Polymorphism	-
P02730	B3AT_HUMAN	834	H	P	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	565	G	A	Polymorphism	-
P02730	B3AT_HUMAN	870	R	W	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	646	R	W	Polymorphism	-
P02730	B3AT_HUMAN	714	G	R	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	783	I	N	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	760	R	W	Disease	Spherocytosis 4 (SPH4) [MIM:612653]
P02730	B3AT_HUMAN	561	P	S	Polymorphism	-
P02730	B3AT_HUMAN	38	D	A	Polymorphism	-
P02730	B3AT_HUMAN	45	D	E	Polymorphism	-
P02730	B3AT_HUMAN	613	S	F	Disease	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
P02730	B3AT_HUMAN	566	P	S	Polymorphism	-
P02743	SAMP_HUMAN	155	E	G	Polymorphism	-
P02743	SAMP_HUMAN	141	G	S	Unclassified	A breast cancer sample
P02743	SAMP_HUMAN	158	S	G	Polymorphism	-
P02745	C1QA_HUMAN	23	E	K	Polymorphism	-
P02746	C1QB_HUMAN	42	G	D	Disease	Complement component C1q deficiency (C1QD) [MIM:613652]
P02746	C1QB_HUMAN	123	A	T	Unclassified	A breast cancer sample
P02747	C1QC_HUMAN	34	G	R	Disease	Complement component C1q deficiency (C1QD) [MIM:613652]
P02748	CO9_HUMAN	167	P	S	Disease	Macular degeneration, age-related, 15 (ARMD15) [MIM:615591]
P02748	CO9_HUMAN	427	S	T	Polymorphism	-
P02748	CO9_HUMAN	279	T	S	Polymorphism	-
P02748	CO9_HUMAN	119	C	G	Disease	Complement component 9 deficiency (C9D) [MIM:613825]
P02748	CO9_HUMAN	203	I	V	Polymorphism	-
P02748	CO9_HUMAN	5	R	W	Polymorphism	-
P02748	CO9_HUMAN	127	D	Y	Polymorphism	-
P02749	APOH_HUMAN	5	V	A	Polymorphism	-
P02749	APOH_HUMAN	325	C	G	Polymorphism	-
P02749	APOH_HUMAN	154	R	H	Polymorphism	-
P02749	APOH_HUMAN	266	V	L	Polymorphism	-
P02749	APOH_HUMAN	335	W	S	Polymorphism	-
P02749	APOH_HUMAN	107	S	N	Polymorphism	-
P02750	A2GL_HUMAN	64	G	S	Polymorphism	-
P02750	A2GL_HUMAN	133	P	S	Polymorphism	-
P02751	FINC_HUMAN	260	C	G	Disease	Spondylometaphyseal dysplasia, corner fracture type (SMDCF) [MIM:184255]
P02751	FINC_HUMAN	1467	S	R	Polymorphism	-
P02751	FINC_HUMAN	87	C	F	Disease	Spondylometaphyseal dysplasia, corner fracture type (SMDCF) [MIM:184255]
P02751	FINC_HUMAN	225	C	W	Disease	Spondylometaphyseal dysplasia, corner fracture type (SMDCF) [MIM:184255]
P02751	FINC_HUMAN	817	T	P	Polymorphism	-
P02751	FINC_HUMAN	123	C	R	Disease	Spondylometaphyseal dysplasia, corner fracture type (SMDCF) [MIM:184255]
P02751	FINC_HUMAN	1120	R	P	Unclassified	A breast cancer sample
P02751	FINC_HUMAN	2380	D	N	Unclassified	A colorectal cancer sample
P02751	FINC_HUMAN	2170	V	I	Polymorphism	-
P02751	FINC_HUMAN	15	Q	L	Polymorphism	-
P02751	FINC_HUMAN	240	Y	D	Disease	Spondylometaphyseal dysplasia, corner fracture type (SMDCF) [MIM:184255]
P02751	FINC_HUMAN	2121	I	V	Polymorphism	-
P02751	FINC_HUMAN	973	Y	C	Disease	Glomerulopathy with fibronectin deposits 2 (GFND2) [MIM:601894]
P02751	FINC_HUMAN	1883	L	R	Disease	Glomerulopathy with fibronectin deposits 2 (GFND2) [MIM:601894]
P02751	FINC_HUMAN	1834	W	R	Disease	Glomerulopathy with fibronectin deposits 2 (GFND2) [MIM:601894]
P02751	FINC_HUMAN	940	D	N	Unclassified	A breast cancer sample
P02751	FINC_HUMAN	1960	I	V	Polymorphism	-
P02753	RET4_HUMAN	75	A	T	Disease	Microphthalmia, isolated, with coloboma, 10 (MCOPCB10) [MIM:616428]
P02753	RET4_HUMAN	73	A	T	Disease	Microphthalmia, isolated, with coloboma, 10 (MCOPCB10) [MIM:616428]
P02753	RET4_HUMAN	93	G	D	Disease	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147]
P02753	RET4_HUMAN	59	I	N	Disease	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147]
P02763	A1AG1_HUMAN	167	R	C	Polymorphism	-
P02763	A1AG1_HUMAN	38	Q	R	Polymorphism	-
P02763	A1AG1_HUMAN	174	V	M	Polymorphism	-
P02765	FETUA_HUMAN	317	R	H	Unclassified	Alopecia-mental retardation syndrome 1 (APMR1) [MIM:203650]
P02765	FETUA_HUMAN	256	S	T	Polymorphism	-
P02765	FETUA_HUMAN	276	D	N	Polymorphism	-
P02765	FETUA_HUMAN	317	R	C	Polymorphism	-
P02765	FETUA_HUMAN	142	V	L	Polymorphism	-
P02765	FETUA_HUMAN	248	M	T	Polymorphism	-
P02766	TTHY_HUMAN	80	T	A	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	84	F	L	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	78	L	H	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	75	L	Q	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	65	A	S	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	88	I	L	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	74	E	K	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	62	E	D	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	53	F	I	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	81	E	G	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	79	T	K	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	89	Y	H	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	58	D	V	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	127	I	M	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	73	G	E	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	67	G	E	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	121	G	S	Polymorphism	-
P02766	TTHY_HUMAN	56	A	P	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	44	P	S	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	126	T	N	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	65	A	T	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	65	A	D	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	38	D	G	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	114	V	A	Unclassified	-
P02766	TTHY_HUMAN	53	F	V	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	122	P	R	Polymorphism	-
P02766	TTHY_HUMAN	50	V	L	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	50	V	G	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	144	N	S	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	26	G	S	Polymorphism	-
P02766	TTHY_HUMAN	140	A	S	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	111	A	S	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	124	R	H	Polymorphism	-
P02766	TTHY_HUMAN	93	I	V	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	62	E	G	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	30	C	R	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	53	F	L	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	131	L	M	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	78	L	R	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	97	S	Y	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	104	I	N	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	74	E	G	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	117	A	S	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	61	W	L	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	58	D	A	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	94	D	H	Polymorphism	-
P02766	TTHY_HUMAN	70	S	I	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	104	I	T	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	110	H	N	Polymorphism	-
P02766	TTHY_HUMAN	55	K	N	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	90	K	N	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	81	E	K	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	64	F	S	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	72	S	P	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	53	F	C	Unclassified	-
P02766	TTHY_HUMAN	40	V	I	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	91	V	A	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	38	D	E	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	98	Y	F	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	104	I	S	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	50	V	A	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	69	T	I	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	67	G	A	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	54	R	T	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	67	G	R	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	50	V	M	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	109	E	Q	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	142	V	I	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	142	V	A	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	32	L	P	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	117	A	G	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	127	I	V	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	69	T	A	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	75	L	P	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	33	M	I	Polymorphism	-
P02766	TTHY_HUMAN	67	G	V	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	43	S	N	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	70	S	R	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	124	R	C	Polymorphism	-
P02766	TTHY_HUMAN	136	Y	S	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	109	E	K	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	134	Y	H	Disease	Carpal tunnel syndrome 1 (CTS1) [MIM:115430]
P02766	TTHY_HUMAN	134	Y	C	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02766	TTHY_HUMAN	129	A	T	Disease	Hyperthyroxinemia, dystransthyretinemic (DTTRH) [MIM:145680]
P02766	TTHY_HUMAN	136	Y	V	Unclassified	-
P02766	TTHY_HUMAN	139	T	M	Polymorphism	-
P02766	TTHY_HUMAN	48	V	M	Disease	Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]
P02768	ALBU_HUMAN	589	E	K	Polymorphism	-
P02768	ALBU_HUMAN	27	H	Y	Polymorphism	-
P02768	ALBU_HUMAN	201	C	F	Polymorphism	-
P02768	ALBU_HUMAN	338	D	G	Polymorphism	-
P02768	ALBU_HUMAN	300	K	N	Polymorphism	-
P02768	ALBU_HUMAN	574	D	A	Polymorphism	-
P02768	ALBU_HUMAN	106	E	K	Polymorphism	-
P02768	ALBU_HUMAN	84	E	K	Polymorphism	-
P02768	ALBU_HUMAN	249	K	Q	Polymorphism	-
P02768	ALBU_HUMAN	598	K	N	Polymorphism	-
P02768	ALBU_HUMAN	242	R	H	Disease	Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999]
P02768	ALBU_HUMAN	143	E	K	Polymorphism	-
P02768	ALBU_HUMAN	338	D	V	Polymorphism	-
P02768	ALBU_HUMAN	594	E	K	Polymorphism	-
P02768	ALBU_HUMAN	73	F	Y	Polymorphism	-
P02768	ALBU_HUMAN	152	H	R	Polymorphism	-
P02768	ALBU_HUMAN	383	K	N	Polymorphism	-
P02768	ALBU_HUMAN	242	R	P	Disease	Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999]
P02768	ALBU_HUMAN	138	R	G	Polymorphism	-
P02768	ALBU_HUMAN	420	E	K	Polymorphism	-
P02768	ALBU_HUMAN	490	K	E	Polymorphism	-
P02768	ALBU_HUMAN	292	Q	R	Polymorphism	-
P02768	ALBU_HUMAN	24	R	P	Polymorphism	-
P02768	ALBU_HUMAN	23	R	C	Polymorphism	-
P02768	ALBU_HUMAN	557	V	M	Polymorphism	-
P02768	ALBU_HUMAN	264	K	E	Polymorphism	-
P02768	ALBU_HUMAN	597	K	E	Polymorphism	-
P02768	ALBU_HUMAN	146	V	E	Polymorphism	-
P02768	ALBU_HUMAN	587	D	N	Polymorphism	-
P02768	ALBU_HUMAN	389	D	H	Polymorphism	-
P02768	ALBU_HUMAN	215	A	V	Polymorphism	-
P02768	ALBU_HUMAN	378	E	K	Polymorphism	-
P02768	ALBU_HUMAN	24	R	L	Polymorphism	-
P02768	ALBU_HUMAN	382	E	K	Polymorphism	-
P02768	ALBU_HUMAN	215	A	T	Polymorphism	-
P02768	ALBU_HUMAN	396	K	E	Polymorphism	-
P02768	ALBU_HUMAN	400	E	K	Polymorphism	-
P02768	ALBU_HUMAN	584	K	E	Polymorphism	-
P02768	ALBU_HUMAN	565	K	E	Polymorphism	-
P02768	ALBU_HUMAN	399	D	N	Polymorphism	-
P02768	ALBU_HUMAN	434	R	C	Polymorphism	-
P02768	ALBU_HUMAN	90	L	P	Disease	Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999]
P02768	ALBU_HUMAN	503	E	K	Polymorphism	-
P02768	ALBU_HUMAN	345	E	K	Polymorphism	-
P02768	ALBU_HUMAN	574	D	G	Polymorphism	-
P02768	ALBU_HUMAN	337	K	N	Polymorphism	-
P02768	ALBU_HUMAN	518	D	N	Polymorphism	-
P02768	ALBU_HUMAN	342	N	K	Polymorphism	-
P02768	ALBU_HUMAN	529	E	K	Polymorphism	-
P02768	ALBU_HUMAN	525	E	K	Polymorphism	-
P02768	ALBU_HUMAN	389	D	V	Polymorphism	-
P02768	ALBU_HUMAN	560	K	E	Polymorphism	-
P02768	ALBU_HUMAN	25	D	V	Polymorphism	-
P02768	ALBU_HUMAN	406	E	K	Polymorphism	-
P02768	ALBU_HUMAN	293	D	G	Polymorphism	-
P02768	ALBU_HUMAN	87	D	N	Polymorphism	-
P02768	ALBU_HUMAN	400	E	Q	Polymorphism	-
P02768	ALBU_HUMAN	220	Q	L	Polymorphism	-
P02768	ALBU_HUMAN	24	R	Q	Polymorphism	-
P02768	ALBU_HUMAN	121	E	G	Polymorphism	-
P02768	ALBU_HUMAN	27	H	Q	Polymorphism	-
P02768	ALBU_HUMAN	357	E	K	Polymorphism	-
P02768	ALBU_HUMAN	23	R	H	Polymorphism	-
P02768	ALBU_HUMAN	344	A	T	Polymorphism	-
P02771	FETA_HUMAN	187	K	Q	Polymorphism	-
P02771	FETA_HUMAN	570	A	G	Polymorphism	-
P02774	VTDB_HUMAN	445	H	R	Polymorphism	-
P02774	VTDB_HUMAN	432	D	E	Polymorphism	-
P02774	VTDB_HUMAN	436	T	K	Polymorphism	-
P02774	VTDB_HUMAN	445	H	C	Polymorphism	-
P02786	TFR1_HUMAN	677	R	H	Polymorphism	-
P02786	TFR1_HUMAN	212	L	V	Polymorphism	-
P02786	TFR1_HUMAN	20	Y	H	Disease	Immunodeficiency 46 (IMD46) [MIM:616740]
P02786	TFR1_HUMAN	142	G	S	Polymorphism	-
P02786	TFR1_HUMAN	420	G	S	Polymorphism	-
P02787	TRFE_HUMAN	645	T	P	Polymorphism	-
P02787	TRFE_HUMAN	42	R	L	Polymorphism	-
P02787	TRFE_HUMAN	562	G	V	Polymorphism	-
P02787	TRFE_HUMAN	589	P	S	Polymorphism	-
P02787	TRFE_HUMAN	477	A	P	Disease	Atransferrinemia (ATRAF) [MIM:209300]
P02787	TRFE_HUMAN	142	G	S	Polymorphism	-
P02787	TRFE_HUMAN	76	A	V	Polymorphism	-
P02787	TRFE_HUMAN	671	G	E	Polymorphism	-
P02787	TRFE_HUMAN	377	W	C	Polymorphism	-
P02787	TRFE_HUMAN	77	D	N	Disease	Atransferrinemia (ATRAF) [MIM:209300]
P02787	TRFE_HUMAN	277	G	S	Polymorphism	-
P02787	TRFE_HUMAN	646	K	E	Polymorphism	-
P02787	TRFE_HUMAN	448	I	V	Polymorphism	-
P02787	TRFE_HUMAN	55	S	R	Polymorphism	-
P02787	TRFE_HUMAN	319	H	R	Polymorphism	-
P02787	TRFE_HUMAN	296	D	G	Polymorphism	-
P02788	TRFL_HUMAN	422	G	C	Polymorphism	-
P02788	TRFL_HUMAN	47	K	R	Polymorphism	-
P02788	TRFL_HUMAN	29	A	T	Polymorphism	-
P02788	TRFL_HUMAN	579	E	D	Polymorphism	-
P02788	TRFL_HUMAN	148	I	T	Polymorphism	-
P02790	HEMO_HUMAN	83	R	W	Polymorphism	-
P02790	HEMO_HUMAN	52	D	N	Polymorphism	-
P02792	FRIL_HUMAN	96	A	T	Disease	Neurodegeneration with brain iron accumulation 3 (NBIA3) [MIM:606159]
P02792	FRIL_HUMAN	30	T	I	Disease	Hyperferritinemia with or without cataract (HRFTC) [MIM:600886]
P02795	MT2_HUMAN	42	A	V	Polymorphism	-
P02810	PRPC_HUMAN	119	R	C	Polymorphism	-
P02810	PRPC_HUMAN	66	D	N	Polymorphism	-
P02810	PRPC_HUMAN	42	I	L	Polymorphism	-
P02810	PRPC_HUMAN	163	Q	K	Polymorphism	-
P02810	PRPC_HUMAN	20	D	N	Polymorphism	-
P02812	PRB2_HUMAN	274	S	P	Polymorphism	-
P02812	PRB2_HUMAN	233	Q	R	Polymorphism	-
P02818	OSTCN_HUMAN	94	R	Q	Polymorphism	-
P03372	ESR1_HUMAN	264	M	I	Unclassified	A breast cancer sample
P03372	ESR1_HUMAN	6	H	Y	Unclassified	A breast cancer sample
P03372	ESR1_HUMAN	160	G	C	Polymorphism	-
P03372	ESR1_HUMAN	394	R	H	Disease	Estrogen resistance (ESTRR) [MIM:615363]
P03372	ESR1_HUMAN	375	Q	H	Disease	Estrogen resistance (ESTRR) [MIM:615363]
P03372	ESR1_HUMAN	400	G	V	Unclassified	-
P03372	ESR1_HUMAN	77	G	S	Polymorphism	-
P03886	NU1M_HUMAN	205	S	P	Polymorphism	-
P03886	NU1M_HUMAN	168	T	A	Polymorphism	-
P03886	NU1M_HUMAN	304	Y	H	Unclassified	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03886	NU1M_HUMAN	288	L	P	Polymorphism	-
P03886	NU1M_HUMAN	31	M	T	Disease	Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
P03886	NU1M_HUMAN	4	A	T	Polymorphism	-
P03886	NU1M_HUMAN	30	Y	C	Unclassified	-
P03886	NU1M_HUMAN	31	M	V	Disease	Alzheimer disease mitochondrial (AD-MT) [MIM:502500]
P03886	NU1M_HUMAN	30	Y	H	Unclassified	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03886	NU1M_HUMAN	214	E	K	Unclassified	-
P03886	NU1M_HUMAN	87	T	A	Polymorphism	-
P03886	NU1M_HUMAN	255	Y	C	Polymorphism	-
P03886	NU1M_HUMAN	52	A	T	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03886	NU1M_HUMAN	277	Y	C	Polymorphism	-
P03886	NU1M_HUMAN	285	L	P	Unclassified	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03891	NU2M_HUMAN	148	S	P	Polymorphism	-
P03891	NU2M_HUMAN	57	I	T	Polymorphism	-
P03891	NU2M_HUMAN	159	I	T	Polymorphism	-
P03891	NU2M_HUMAN	265	A	T	Polymorphism	-
P03891	NU2M_HUMAN	119	T	A	Polymorphism	-
P03891	NU2M_HUMAN	42	P	L	Polymorphism	-
P03891	NU2M_HUMAN	69	I	V	Polymorphism	-
P03891	NU2M_HUMAN	88	N	S	Polymorphism	-
P03891	NU2M_HUMAN	43	V	I	Polymorphism	-
P03891	NU2M_HUMAN	278	I	T	Polymorphism	-
P03891	NU2M_HUMAN	150	N	D	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03891	NU2M_HUMAN	331	A	S	Disease	Alzheimer disease mitochondrial (AD-MT) [MIM:502500]
P03891	NU2M_HUMAN	237	L	M	Polymorphism	-
P03891	NU2M_HUMAN	150	N	S	Polymorphism	-
P03891	NU2M_HUMAN	63	Q	R	Polymorphism	-
P03891	NU2M_HUMAN	331	A	T	Polymorphism	-
P03891	NU2M_HUMAN	185	T	A	Polymorphism	-
P03891	NU2M_HUMAN	259	G	S	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03891	NU2M_HUMAN	265	A	V	Polymorphism	-
P03891	NU2M_HUMAN	325	F	L	Polymorphism	-
P03891	NU2M_HUMAN	333	T	A	Polymorphism	-
P03897	NU3M_HUMAN	47	A	T	Disease	Mitochondrial complex I deficiency, mitochondrial type 1 (MC1DM1) [MIM:500014]
P03897	NU3M_HUMAN	53	M	V	Polymorphism	-
P03897	NU3M_HUMAN	114	T	A	Polymorphism	-
P03897	NU3M_HUMAN	47	A	T	Disease	Leigh syndrome (LS) [MIM:256000]
P03897	NU3M_HUMAN	45	S	P	Disease	Mitochondrial complex I deficiency, mitochondrial type 1 (MC1DM1) [MIM:500014]
P03897	NU3M_HUMAN	34	S	P	Disease	Mitochondrial complex I deficiency, mitochondrial type 1 (MC1DM1) [MIM:500014]
P03897	NU3M_HUMAN	10	N	D	Polymorphism	-
P03901	NU4LM_HUMAN	65	V	A	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03901	NU4LM_HUMAN	61	I	T	Polymorphism	-
P03901	NU4LM_HUMAN	36	M	I	Polymorphism	-
P03901	NU4LM_HUMAN	32	C	R	Unclassified	Colorectal cancer
P03901	NU4LM_HUMAN	57	N	S	Polymorphism	-
P03905	NU4M_HUMAN	109	T	A	Disease	Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
P03905	NU4M_HUMAN	313	V	I	Disease	Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]
P03905	NU4M_HUMAN	420	T	A	Unclassified	-
P03905	NU4M_HUMAN	132	I	T	Polymorphism	-
P03905	NU4M_HUMAN	109	T	P	Polymorphism	-
P03905	NU4M_HUMAN	340	R	H	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03905	NU4M_HUMAN	294	M	T	Polymorphism	-
P03905	NU4M_HUMAN	79	A	P	Polymorphism	-
P03915	NU5M_HUMAN	253	V	A	Unclassified	-
P03915	NU5M_HUMAN	465	G	E	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03915	NU5M_HUMAN	99	S	P	Polymorphism	-
P03915	NU5M_HUMAN	458	A	T	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03915	NU5M_HUMAN	17	P	S	Polymorphism	-
P03915	NU5M_HUMAN	95	F	S	Polymorphism	-
P03915	NU5M_HUMAN	331	T	A	Polymorphism	-
P03915	NU5M_HUMAN	171	A	V	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03915	NU5M_HUMAN	304	F	S	Polymorphism	-
P03915	NU5M_HUMAN	250	S	C	Disease	Leigh syndrome (LS) [MIM:256000]
P03915	NU5M_HUMAN	146	G	D	Polymorphism	-
P03915	NU5M_HUMAN	145	E	G	Disease	Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
P03915	NU5M_HUMAN	393	D	N	Disease	Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
P03915	NU5M_HUMAN	475	A	T	Polymorphism	-
P03915	NU5M_HUMAN	314	M	V	Polymorphism	-
P03915	NU5M_HUMAN	211	T	P	Polymorphism	-
P03915	NU5M_HUMAN	257	I	V	Polymorphism	-
P03915	NU5M_HUMAN	160	A	V	Polymorphism	-
P03915	NU5M_HUMAN	124	F	L	Disease	Leigh syndrome (LS) [MIM:256000]
P03915	NU5M_HUMAN	236	A	T	Disease	Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
P03915	NU5M_HUMAN	165	N	S	Polymorphism	-
P03915	NU5M_HUMAN	447	N	S	Unclassified	-
P03915	NU5M_HUMAN	503	D	G	Polymorphism	-
P03915	NU5M_HUMAN	237	M	L	Disease	Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
P03923	NU6M_HUMAN	165	Y	C	Polymorphism	-
P03923	NU6M_HUMAN	36	G	S	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03923	NU6M_HUMAN	59	Y	C	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03923	NU6M_HUMAN	33	I	V	Polymorphism	-
P03923	NU6M_HUMAN	31	V	A	Polymorphism	-
P03923	NU6M_HUMAN	26	I	M	Disease	Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]
P03923	NU6M_HUMAN	64	M	V	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03923	NU6M_HUMAN	63	M	V	Disease	Leigh syndrome (LS) [MIM:256000]
P03923	NU6M_HUMAN	64	M	I	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03923	NU6M_HUMAN	74	A	V	Disease	Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
P03923	NU6M_HUMAN	72	A	V	Disease	Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]
P03923	NU6M_HUMAN	60	L	S	Disease	Leber hereditary optic neuropathy (LHON) [MIM:535000]
P03923	NU6M_HUMAN	58	I	V	Polymorphism	-
P03928	ATP8_HUMAN	28	M	T	Polymorphism	-
P03928	ATP8_HUMAN	55	W	R	Disease	Mitochondrial complex V deficiency, mitochondrial 2 (MC5DM2) [MIM:516070]
P03928	ATP8_HUMAN	55	W	R	Disease	Cardiomyopathy, infantile hypertrophic (CMHI) [MIM:500006]
P03928	ATP8_HUMAN	21	F	S	Polymorphism	-
P03928	ATP8_HUMAN	17	L	P	Polymorphism	-
P03950	ANGI_HUMAN	20	P	S	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	64	K	I	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	52	S	N	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	138	H	R	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	63	C	W	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	36	Q	L	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	136	P	L	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	70	I	V	Polymorphism	-
P03950	ANGI_HUMAN	38	Y	H	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	84	K	E	Polymorphism	-
P03950	ANGI_HUMAN	41	K	E	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	137	V	I	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	12	F	S	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	55	R	K	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	41	K	I	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03950	ANGI_HUMAN	46	D	G	Disease	Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
P03951	FA11_HUMAN	399	W	R	Polymorphism	-
P03951	FA11_HUMAN	493	T	I	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	506	D	G	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	430	A	V	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	608	Y	H	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	46	C	F	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	151	Y	C	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	526	D	E	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	326	R	C	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	552	H	R	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	543	E	K	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	228	R	Q	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	246	W	C	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	503	S	P	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	481	I	S	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	341	E	K	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	30	F	S	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	315	E	K	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	255	C	Y	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	140	C	Y	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	34	D	H	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	101	K	R	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	320	L	P	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	404	T	N	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	222	D	Y	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	322	T	I	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	575	S	L	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	276	S	C	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	53	H	Q	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	56	C	R	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	587	W	S	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	460	F	V	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	401	W	R	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	43	A	T	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	514	C	F	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	266	S	N	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	32	G	R	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	597	E	K	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	63	A	V	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	403	V	M	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	252	R	T	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	66	P	L	Polymorphism	-
P03951	FA11_HUMAN	618	I	S	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	51	T	P	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	360	L	P	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	339	C	F	Polymorphism	-
P03951	FA11_HUMAN	216	D	N	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	454	I	K	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	594	S	R	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	565	E	K	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	51	T	I	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	263	G	E	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	277	G	D	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	244	Q	R	Polymorphism	-
P03951	FA11_HUMAN	308	I	F	Polymorphism	-
P03951	FA11_HUMAN	241	F	L	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	331	T	I	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	538	P	L	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	109	A	T	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	418	G	V	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	301	F	L	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	270	K	I	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03951	FA11_HUMAN	511	Y	H	Disease	Factor XI deficiency (FA11D) [MIM:612416]
P03952	KLKB1_HUMAN	208	H	P	Polymorphism	-
P03952	KLKB1_HUMAN	178	A	T	Polymorphism	-
P03952	KLKB1_HUMAN	202	H	Q	Polymorphism	-
P03952	KLKB1_HUMAN	269	S	C	Polymorphism	-
P03952	KLKB1_HUMAN	311	F	V	Polymorphism	-
P03952	KLKB1_HUMAN	381	S	A	Polymorphism	-
P03952	KLKB1_HUMAN	210	A	E	Polymorphism	-
P03952	KLKB1_HUMAN	358	T	A	Polymorphism	-
P03952	KLKB1_HUMAN	548	C	Y	Disease	Prekallikrein deficiency (PKK deficiency) [MIM:612423]
P03952	KLKB1_HUMAN	143	N	S	Disease	Prekallikrein deficiency (PKK deficiency) [MIM:612423]
P03952	KLKB1_HUMAN	442	Q	P	Polymorphism	-
P03952	KLKB1_HUMAN	560	R	Q	Polymorphism	-
P03952	KLKB1_HUMAN	123	G	R	Disease	Prekallikrein deficiency (PKK deficiency) [MIM:612423]
P03956	MMP1_HUMAN	405	R	Q	Polymorphism	-
P03956	MMP1_HUMAN	406	S	T	Polymorphism	-
P03956	MMP1_HUMAN	29	Q	P	Polymorphism	-
P03956	MMP1_HUMAN	191	I	V	Polymorphism	-
P03956	MMP1_HUMAN	252	D	G	Polymorphism	-
P03956	MMP1_HUMAN	262	R	S	Polymorphism	-
P03971	MIS_HUMAN	70	L	P	Disease	Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971	MIS_HUMAN	101	G	V	Disease	Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971	MIS_HUMAN	477	V	A	Disease	Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971	MIS_HUMAN	49	S	I	Polymorphism	-
P03971	MIS_HUMAN	123	R	W	Disease	Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971	MIS_HUMAN	167	Y	C	Disease	Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971	MIS_HUMAN	525	C	Y	Disease	Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971	MIS_HUMAN	325	Q	R	Polymorphism	-
P03971	MIS_HUMAN	12	V	G	Disease	Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971	MIS_HUMAN	194	R	C	Disease	Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971	MIS_HUMAN	506	H	Q	Disease	Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971	MIS_HUMAN	185	Q	E	Polymorphism	-
P03971	MIS_HUMAN	515	V	A	Polymorphism	-
P03989	1B27_HUMAN	329	A	T	Polymorphism	-
P03989	1B27_HUMAN	306	V	I	Polymorphism	-
P03989	1B27_HUMAN	349	C	Y	Polymorphism	-
P03989	1B27_HUMAN	140	D	Y	Polymorphism	-
P03989	1B27_HUMAN	349	C	S	Polymorphism	-
P03989	1B27_HUMAN	121	N	S	Polymorphism	-
P03989	1B27_HUMAN	176	V	E	Polymorphism	-
P03989	1B27_HUMAN	101	D	S	Polymorphism	-
P03989	1B27_HUMAN	65	A	T	Polymorphism	-
P03989	1B27_HUMAN	101	D	N	Polymorphism	-
P03989	1B27_HUMAN	83	Y	H	Polymorphism	-
P03989	1B27_HUMAN	140	D	H	Polymorphism	-
P03989	1B27_HUMAN	104	T	N	Polymorphism	-
P03989	1B27_HUMAN	155	S	R	Polymorphism	-
P03989	1B27_HUMAN	138	H	D	Polymorphism	-
P03989	1B27_HUMAN	235	A	G	Polymorphism	-
P03999	OPSB_HUMAN	214	S	P	Disease	Tritan color blindness (CBT) [MIM:190900]
P03999	OPSB_HUMAN	79	G	R	Disease	Tritan color blindness (CBT) [MIM:190900]
P03999	OPSB_HUMAN	264	P	S	Disease	Tritan color blindness (CBT) [MIM:190900]
P03999	OPSB_HUMAN	190	T	I	Disease	Tritan color blindness (CBT) [MIM:190900]
P04000	OPSR_HUMAN	298	A	P	Polymorphism	-
P04000	OPSR_HUMAN	203	C	R	Disease	Blue cone monochromacy (BCM) [MIM:303700]
P04000	OPSR_HUMAN	338	G	E	Disease	Colorblindness, partial, protan series (CBP) [MIM:303900]
P04000	OPSR_HUMAN	274	I	V	Polymorphism	-
P04000	OPSR_HUMAN	111	I	V	Polymorphism	-
P04000	OPSR_HUMAN	153	L	M	Polymorphism	-
P04000	OPSR_HUMAN	116	S	Y	Polymorphism	-
P04000	OPSR_HUMAN	307	P	L	Disease	Blue cone monochromacy (BCM) [MIM:303700]
P04000	OPSR_HUMAN	230	I	T	Polymorphism	-
P04000	OPSR_HUMAN	180	S	A	Polymorphism	-
P04001	OPSG_HUMAN	203	C	R	Disease	Blue cone monochromacy (BCM) [MIM:303700]
P04001	OPSG_HUMAN	330	R	Q	Disease	Colorblindness, partial, deutan series (CBD) [MIM:303800]
P04001	OPSG_HUMAN	203	C	R	Disease	Colorblindness, partial, deutan series (CBD) [MIM:303800]
P04001	OPSG_HUMAN	177	W	R	Disease	Cone dystrophy 5 (COD5) [MIM:303700]
P04001	OPSG_HUMAN	94	N	K	Disease	Colorblindness, partial, deutan series (CBD) [MIM:303800]
P04003	C4BPA_HUMAN	60	A	V	Polymorphism	-
P04003	C4BPA_HUMAN	240	R	H	Polymorphism	-
P04003	C4BPA_HUMAN	4	P	Q	Polymorphism	-
P04003	C4BPA_HUMAN	357	Y	H	Polymorphism	-
P04003	C4BPA_HUMAN	473	W	L	Polymorphism	-
P04003	C4BPA_HUMAN	300	I	T	Polymorphism	-
P04004	VTNC_HUMAN	122	A	S	Polymorphism	-
P04004	VTNC_HUMAN	400	T	M	Polymorphism	-
P04004	VTNC_HUMAN	268	R	Q	Polymorphism	-
P04035	HMDH_HUMAN	638	I	V	Polymorphism	-
P04049	RAF1_HUMAN	260	T	R	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	612	S	T	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	613	L	V	Disease	LEOPARD syndrome 2 (LPRD2) [MIM:611554]
P04049	RAF1_HUMAN	263	V	A	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	641	T	M	Disease	Cardiomyopathy, dilated 1NN (CMD1NN) [MIM:615916]
P04049	RAF1_HUMAN	261	P	L	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	257	S	L	Disease	LEOPARD syndrome 2 (LPRD2) [MIM:611554]
P04049	RAF1_HUMAN	491	T	R	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	310	T	A	Disease	Cardiomyopathy, dilated 1NN (CMD1NN) [MIM:615916]
P04049	RAF1_HUMAN	626	H	R	Disease	Cardiomyopathy, dilated 1NN (CMD1NN) [MIM:615916]
P04049	RAF1_HUMAN	603	L	P	Disease	Cardiomyopathy, dilated 1NN (CMD1NN) [MIM:615916]
P04049	RAF1_HUMAN	335	Q	H	Unclassified	A lung adenocarcinoma sample
P04049	RAF1_HUMAN	491	T	I	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	261	P	A	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	261	P	S	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	486	D	G	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	259	S	A	Unclassified	An ovarian serous carcinoma sample
P04049	RAF1_HUMAN	486	D	N	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	257	S	L	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	613	L	V	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	332	P	A	Disease	Cardiomyopathy, dilated 1NN (CMD1NN) [MIM:615916]
P04049	RAF1_HUMAN	308	P	L	Polymorphism	-
P04049	RAF1_HUMAN	260	T	I	Polymorphism	-
P04049	RAF1_HUMAN	237	A	T	Disease	Cardiomyopathy, dilated 1NN (CMD1NN) [MIM:615916]
P04049	RAF1_HUMAN	256	R	S	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04049	RAF1_HUMAN	259	S	F	Disease	Noonan syndrome 5 (NS5) [MIM:611553]
P04053	TDT_HUMAN	112	R	G	Polymorphism	-
P04054	PA21B_HUMAN	89	N	T	Polymorphism	-
P04054	PA21B_HUMAN	16	D	A	Polymorphism	-
P04054	PA21B_HUMAN	89	N	K	Polymorphism	-
P04062	GLCM_HUMAN	454	P	R	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	483	L	P	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	284	P	T	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	438	D	N	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	483	L	P	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	483	L	R	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	485	A	P	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	495	A	P	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	209	R	P	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	464	K	E	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	388	E	K	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	448	D	H	Disease	Gaucher disease 3C (GD3C) [MIM:231005]
P04062	GLCM_HUMAN	509	L	P	Polymorphism	-
P04062	GLCM_HUMAN	301	R	G	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	448	D	H	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	435	N	T	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	421	N	K	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	251	Y	H	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	266	F	L	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	402	Y	C	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	456	F	V	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	159	R	Q	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	54	V	L	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	196	K	Q	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	289	G	V	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	392	R	W	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	224	L	F	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	161	P	S	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	161	P	L	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	436	F	S	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	409	N	S	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	451	Y	H	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	241	G	E	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	55	C	S	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	303	L	I	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	490	H	R	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	392	R	G	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	87	R	Q	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	457	Y	C	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	410	L	V	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	237	K	E	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	440	P	L	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	328	P	L	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	405	S	G	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	448	D	V	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	85	G	E	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	400	M	I	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	347	I	S	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	460	G	D	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	162	M	V	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	452	K	Q	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	159	R	W	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	420	W	C	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	228	G	V	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	431	N	I	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	304	G	D	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	87	R	W	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	438	D	Y	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	213	L	F	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	310	S	N	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	229	A	E	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	429	G	R	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	200	I	N	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	166	D	V	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	296	R	Q	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	438	D	N	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	80	E	K	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	351	W	S	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	419	D	H	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	497	V	L	Polymorphism	-
P04062	GLCM_HUMAN	441	I	F	Disease	Gaucher disease 3 (GD3) [MIM:231000]
P04062	GLCM_HUMAN	158	I	T	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	530	T	I	Disease	Gaucher disease 3 (GD3) [MIM:231000]
P04062	GLCM_HUMAN	414	V	L	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	179	D	H	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	232	G	E	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	46	K	E	Polymorphism	-
P04062	GLCM_HUMAN	450	F	I	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	221	P	L	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	426	P	L	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	198	P	S	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	428	G	E	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	419	D	A	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	419	D	N	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	118	K	N	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	517	G	S	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	244	Y	C	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	403	S	T	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	430	P	L	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	173	T	P	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	342	K	I	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	270	T	R	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	405	S	R	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	234	G	W	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	304	G	R	Disease	Gaucher disease 3 (GD3) [MIM:231000]
P04062	GLCM_HUMAN	482	D	N	Polymorphism	-
P04062	GLCM_HUMAN	364	G	R	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	252	F	I	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	535	R	H	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	437	V	L	Disease	Gaucher disease 3 (GD3) [MIM:231000]
P04062	GLCM_HUMAN	310	S	G	Polymorphism	-
P04062	GLCM_HUMAN	170	R	L	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	227	N	I	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	76	F	V	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	368	R	H	Polymorphism	-
P04062	GLCM_HUMAN	433	V	L	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	294	H	Q	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	500	L	P	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	363	L	P	Unclassified	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	365	E	K	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	352	Y	H	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	348	A	V	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	441	I	T	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	391	V	L	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	170	R	C	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	170	R	C	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	82	T	I	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	535	R	C	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	502	R	P	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	398	R	Q	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	357	A	D	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	419	D	N	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	416	G	S	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	209	R	C	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	354	D	H	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	408	T	M	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	305	P	R	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	294	H	Q	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	455	M	V	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	198	P	L	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	152	G	E	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	298	F	L	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	437	V	F	Disease	Gaucher disease perinatal lethal (GDPL) [MIM:608013]
P04062	GLCM_HUMAN	417	W	G	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	381	C	G	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	200	I	S	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	276	S	P	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	365	E	K	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	274	E	K	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	146	S	L	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	92	M	T	Polymorphism	-
P04062	GLCM_HUMAN	502	R	C	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	350	H	R	Disease	Gaucher disease perinatal lethal (GDPL) [MIM:608013]
P04062	GLCM_HUMAN	343	Y	C	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	362	T	I	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	432	W	R	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	241	G	R	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	129	A	T	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	198	P	T	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	324	R	C	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	227	N	S	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	380	A	T	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	486	V	E	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	173	T	I	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	351	W	C	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	255	F	Y	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	405	S	N	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	62	C	W	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	513	D	Y	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	324	R	H	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	201	H	P	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	501	N	K	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	229	A	T	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	230	V	E	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	156	N	D	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	241	G	R	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	221	P	T	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	234	G	E	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	290	F	L	Disease	Gaucher disease perinatal lethal (GDPL) [MIM:608013]
P04062	GLCM_HUMAN	230	V	G	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	63	D	N	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04062	GLCM_HUMAN	217	P	S	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	223	W	R	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	235	S	P	Disease	Gaucher disease 2 (GD2) [MIM:230900]
P04062	GLCM_HUMAN	175	A	E	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	227	N	K	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	215	A	D	Disease	Gaucher disease (GD) [MIM:230800]
P04062	GLCM_HUMAN	227	N	S	Disease	Gaucher disease 3 (GD3) [MIM:231000]
P04062	GLCM_HUMAN	158	I	S	Disease	Gaucher disease 1 (GD1) [MIM:230800]
P04066	FUCO_HUMAN	286	Q	R	Polymorphism	-
P04066	FUCO_HUMAN	260	V	I	Polymorphism	-
P04066	FUCO_HUMAN	410	L	R	Disease	Fucosidosis (FUCA1D) [MIM:230000]
P04066	FUCO_HUMAN	269	C	S	Polymorphism	-
P04066	FUCO_HUMAN	65	G	D	Disease	Fucosidosis (FUCA1D) [MIM:230000]
P04066	FUCO_HUMAN	68	S	L	Disease	Fucosidosis (FUCA1D) [MIM:230000]
P04066	FUCO_HUMAN	146	P	L	Polymorphism	-
P04066	FUCO_HUMAN	2	R	W	Polymorphism	-
P04066	FUCO_HUMAN	10	P	R	Polymorphism	-
P04070	PROC_HUMAN	211	R	Q	Polymorphism	-
P04070	PROC_HUMAN	294	S	N	Polymorphism	-
P04070	PROC_HUMAN	210	P	L	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	220	R	P	Unclassified	-
P04070	PROC_HUMAN	220	R	Q	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	163	A	E	Disease	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
P04070	PROC_HUMAN	220	R	W	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	272	R	C	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	388	A	V	Polymorphism	-
P04070	PROC_HUMAN	420	V	L	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	243	I	T	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	357	T	A	Unclassified	-
P04070	PROC_HUMAN	70	K	E	Polymorphism	-
P04070	PROC_HUMAN	226	Q	H	Polymorphism	-
P04070	PROC_HUMAN	334	G	S	Disease	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
P04070	PROC_HUMAN	106	C	G	Polymorphism	-
P04070	PROC_HUMAN	289	P	L	Disease	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
P04070	PROC_HUMAN	301	A	V	Polymorphism	-
P04070	PROC_HUMAN	312	S	L	Polymorphism	-
P04070	PROC_HUMAN	189	R	W	Polymorphism	-
P04070	PROC_HUMAN	77	D	G	Disease	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
P04070	PROC_HUMAN	211	R	W	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	147	C	Y	Polymorphism	-
P04070	PROC_HUMAN	240	A	G	Unclassified	-
P04070	PROC_HUMAN	327	E	V	Polymorphism	-
P04070	PROC_HUMAN	244	H	Y	Polymorphism	-
P04070	PROC_HUMAN	309	A	T	Polymorphism	-
P04070	PROC_HUMAN	298	N	D	Unclassified	-
P04070	PROC_HUMAN	312	S	P	Unclassified	-
P04070	PROC_HUMAN	321	P	L	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	301	A	T	Polymorphism	-
P04070	PROC_HUMAN	163	A	V	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	57	R	W	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	271	R	W	Polymorphism	-
P04070	PROC_HUMAN	118	F	L	Polymorphism	-
P04070	PROC_HUMAN	441	Y	H	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	401	D	N	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	392	G	R	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	181	F	V	Polymorphism	-
P04070	PROC_HUMAN	89	G	C	Unclassified	-
P04070	PROC_HUMAN	444	W	C	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	324	G	R	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	385	M	I	Unclassified	-
P04070	PROC_HUMAN	343	G	D	Unclassified	-
P04070	PROC_HUMAN	328	R	C	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	62	E	A	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	42	R	S	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	161	S	R	Polymorphism	-
P04070	PROC_HUMAN	445	I	M	Polymorphism	-
P04070	PROC_HUMAN	145	G	R	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	388	A	T	Unclassified	-
P04070	PROC_HUMAN	114	G	R	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	109	G	R	Unclassified	-
P04070	PROC_HUMAN	51	R	C	Polymorphism	-
P04070	PROC_HUMAN	108	H	N	Polymorphism	-
P04070	PROC_HUMAN	32	R	C	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	367	V	A	Disease	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
P04070	PROC_HUMAN	328	R	H	Disease	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
P04070	PROC_HUMAN	265	L	F	Polymorphism	-
P04070	PROC_HUMAN	43	A	T	Polymorphism	-
P04070	PROC_HUMAN	49	E	D	Unclassified	-
P04070	PROC_HUMAN	194	R	C	Polymorphism	-
P04070	PROC_HUMAN	178	A	P	Disease	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
P04070	PROC_HUMAN	426	C	Y	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	423	G	S	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	436	T	N	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	118	F	A	Unclassified	-
P04070	PROC_HUMAN	149	H	P	Polymorphism	-
P04070	PROC_HUMAN	38	R	W	Polymorphism	-
P04070	PROC_HUMAN	340	T	M	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	183	C	R	Polymorphism	-
P04070	PROC_HUMAN	253	H	Q	Polymorphism	-
P04070	PROC_HUMAN	42	R	H	Polymorphism	-
P04070	PROC_HUMAN	418	G	D	Disease	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
P04070	PROC_HUMAN	297	D	H	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	57	R	Q	Polymorphism	-
P04070	PROC_HUMAN	271	R	Q	Polymorphism	-
P04070	PROC_HUMAN	394	R	W	Polymorphism	-
P04070	PROC_HUMAN	175	C	Y	Polymorphism	-
P04070	PROC_HUMAN	76	V	M	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	317	P	S	Unclassified	-
P04070	PROC_HUMAN	369	P	L	Disease	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
P04070	PROC_HUMAN	433	G	S	Polymorphism	-
P04070	PROC_HUMAN	42	R	C	Polymorphism	-
P04070	PROC_HUMAN	57	R	G	Unclassified	-
P04070	PROC_HUMAN	14	W	G	Unclassified	-
P04070	PROC_HUMAN	223	S	R	Polymorphism	-
P04075	ALDOA_HUMAN	142	G	V	Polymorphism	-
P04075	ALDOA_HUMAN	207	E	K	Disease	Glycogen storage disease 12 (GSD12) [MIM:611881]
P04075	ALDOA_HUMAN	129	D	G	Disease	Glycogen storage disease 12 (GSD12) [MIM:611881]
P04075	ALDOA_HUMAN	339	C	Y	Disease	Glycogen storage disease 12 (GSD12) [MIM:611881]
P04075	ALDOA_HUMAN	82	E	Q	Polymorphism	-
P04075	ALDOA_HUMAN	347	G	S	Disease	Glycogen storage disease 12 (GSD12) [MIM:611881]
P04080	CYTB_HUMAN	4	G	R	Disease	Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800]
P04090	REL2_HUMAN	28	M	K	Polymorphism	-
P04090	REL2_HUMAN	12	V	F	Polymorphism	-
P04114	APOB_HUMAN	4481	A	T	Polymorphism	-
P04114	APOB_HUMAN	251	A	T	Polymorphism	-
P04114	APOB_HUMAN	2365	A	T	Polymorphism	-
P04114	APOB_HUMAN	2680	L	Q	Polymorphism	-
P04114	APOB_HUMAN	3945	T	A	Polymorphism	-
P04114	APOB_HUMAN	3121	A	T	Polymorphism	-
P04114	APOB_HUMAN	1218	Q	E	Polymorphism	-
P04114	APOB_HUMAN	952	V	L	Unclassified	Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558]
P04114	APOB_HUMAN	4270	R	T	Polymorphism	-
P04114	APOB_HUMAN	4128	V	M	Polymorphism	-
P04114	APOB_HUMAN	618	A	V	Polymorphism	-
P04114	APOB_HUMAN	4338	S	N	Polymorphism	-
P04114	APOB_HUMAN	3921	V	I	Polymorphism	-
P04114	APOB_HUMAN	273	K	N	Polymorphism	-
P04114	APOB_HUMAN	733	V	I	Polymorphism	-
P04114	APOB_HUMAN	3835	I	L	Polymorphism	-
P04114	APOB_HUMAN	3801	S	T	Polymorphism	-
P04114	APOB_HUMAN	3427	T	K	Polymorphism	-
P04114	APOB_HUMAN	3319	D	H	Polymorphism	-
P04114	APOB_HUMAN	2092	L	V	Polymorphism	-
P04114	APOB_HUMAN	1086	G	S	Polymorphism	-
P04114	APOB_HUMAN	1613	S	T	Polymorphism	-
P04114	APOB_HUMAN	1422	Y	C	Polymorphism	-
P04114	APOB_HUMAN	1113	D	H	Polymorphism	-
P04114	APOB_HUMAN	4394	V	A	Polymorphism	-
P04114	APOB_HUMAN	877	P	L	Polymorphism	-
P04114	APOB_HUMAN	4181	E	K	Polymorphism	-
P04114	APOB_HUMAN	1914	N	S	Polymorphism	-
P04114	APOB_HUMAN	98	T	I	Polymorphism	-
P04114	APOB_HUMAN	2566	E	K	Polymorphism	-
P04114	APOB_HUMAN	103	Y	H	Polymorphism	-
P04114	APOB_HUMAN	3732	I	T	Polymorphism	-
P04114	APOB_HUMAN	1437	F	L	Polymorphism	-
P04114	APOB_HUMAN	1128	R	H	Polymorphism	-
P04114	APOB_HUMAN	2299	D	H	Polymorphism	-
P04114	APOB_HUMAN	3638	R	Q	Polymorphism	-
P04114	APOB_HUMAN	3432	Q	E	Polymorphism	-
P04114	APOB_HUMAN	2564	F	C	Unclassified	A colorectal cancer sample
P04114	APOB_HUMAN	554	P	L	Polymorphism	-
P04114	APOB_HUMAN	4484	T	M	Polymorphism	-
P04114	APOB_HUMAN	1670	E	D	Polymorphism	-
P04114	APOB_HUMAN	3279	S	G	Polymorphism	-
P04114	APOB_HUMAN	2739	P	L	Polymorphism	-
P04114	APOB_HUMAN	194	T	M	Polymorphism	-
P04114	APOB_HUMAN	1923	H	R	Polymorphism	-
P04114	APOB_HUMAN	730	V	I	Polymorphism	-
P04114	APOB_HUMAN	3294	S	P	Polymorphism	-
P04114	APOB_HUMAN	4314	I	V	Polymorphism	-
P04114	APOB_HUMAN	2313	I	V	Polymorphism	-
P04114	APOB_HUMAN	3558	R	C	Disease	Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]
P04114	APOB_HUMAN	3949	F	L	Polymorphism	-
P04114	APOB_HUMAN	2785	N	H	Polymorphism	-
P04114	APOB_HUMAN	3182	H	N	Polymorphism	-
P04114	APOB_HUMAN	1388	R	H	Polymorphism	-
P04114	APOB_HUMAN	145	P	S	Polymorphism	-
P04114	APOB_HUMAN	3964	Y	F	Polymorphism	-
P04114	APOB_HUMAN	2456	A	D	Polymorphism	-
P04114	APOB_HUMAN	408	I	T	Polymorphism	-
P04114	APOB_HUMAN	955	P	S	Polymorphism	-
P04114	APOB_HUMAN	2037	I	N	Polymorphism	-
P04114	APOB_HUMAN	3527	R	Q	Disease	Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]
P04114	APOB_HUMAN	4482	I	V	Polymorphism	-
P04114	APOB_HUMAN	490	R	W	Disease	Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558]
P04114	APOB_HUMAN	741	T	N	Polymorphism	-
P04118	COL_HUMAN	8	L	P	Polymorphism	-
P04118	COL_HUMAN	109	R	C	Polymorphism	-
P04141	CSF2_HUMAN	117	I	T	Polymorphism	-
P04141	CSF2_HUMAN	115	T	I	Polymorphism	-
P04150	GCR_HUMAN	766	N	S	Polymorphism	-
P04150	GCR_HUMAN	477	R	S	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	679	G	S	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	559	I	N	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	726	H	R	Unclassified	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	729	V	I	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	321	V	A	Polymorphism	-
P04150	GCR_HUMAN	773	L	P	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	747	I	M	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	575	V	G	Unclassified	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	477	R	H	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	72	N	D	Polymorphism	-
P04150	GCR_HUMAN	571	V	A	Polymorphism	-
P04150	GCR_HUMAN	478	Y	C	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	233	D	N	Polymorphism	-
P04150	GCR_HUMAN	753	L	F	Polymorphism	-
P04150	GCR_HUMAN	363	N	S	Polymorphism	-
P04150	GCR_HUMAN	672	L	P	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	714	R	Q	Unclassified	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	423	V	A	Unclassified	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	29	F	L	Polymorphism	-
P04150	GCR_HUMAN	737	F	L	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	65	F	V	Polymorphism	-
P04150	GCR_HUMAN	641	D	V	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	421	C	Y	Polymorphism	-
P04150	GCR_HUMAN	23	R	K	Polymorphism	-
P04150	GCR_HUMAN	556	T	I	Disease	Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
P04150	GCR_HUMAN	112	L	F	Polymorphism	-
P04155	TFF1_HUMAN	46	V	I	Unclassified	-
P04155	TFF1_HUMAN	32	T	K	Unclassified	A gastric carcinoma sample
P04155	TFF1_HUMAN	32	T	I	Unclassified	A gastric carcinoma sample
P04155	TFF1_HUMAN	22	T	I	Polymorphism	-
P04155	TFF1_HUMAN	37	E	K	Unclassified	A gastric carcinoma sample
P04155	TFF1_HUMAN	34	A	D	Unclassified	A gastric carcinoma sample
P04155	TFF1_HUMAN	55	G	V	Unclassified	A gastric carcinoma sample
P04156	PRIO_HUMAN	183	T	A	Disease	Spongiform encephalopathy with neuropsychiatric features (SENF) [MIM:606688]
P04156	PRIO_HUMAN	129	M	V	Polymorphism	-
P04156	PRIO_HUMAN	102	P	L	Disease	Gerstmann-Straussler disease (GSD) [MIM:137440]
P04156	PRIO_HUMAN	238	P	S	Polymorphism	-
P04156	PRIO_HUMAN	232	M	R	Disease	Creutzfeldt-Jakob disease (CJD) [MIM:123400]
P04156	PRIO_HUMAN	202	D	N	Disease	Gerstmann-Straussler disease (GSD) [MIM:137440]
P04156	PRIO_HUMAN	127	G	V	Polymorphism	-
P04156	PRIO_HUMAN	188	T	K	Unclassified	-
P04156	PRIO_HUMAN	217	Q	R	Disease	Gerstmann-Straussler disease (GSD) [MIM:137440]
P04156	PRIO_HUMAN	211	E	Q	Disease	Creutzfeldt-Jakob disease (CJD) [MIM:123400]
P04156	PRIO_HUMAN	180	V	I	Disease	Creutzfeldt-Jakob disease (CJD) [MIM:123400]
P04156	PRIO_HUMAN	105	P	L	Disease	Gerstmann-Straussler disease (GSD) [MIM:137440]
P04156	PRIO_HUMAN	187	H	R	Disease	Gerstmann-Straussler disease (GSD) [MIM:137440]
P04156	PRIO_HUMAN	198	F	S	Disease	Gerstmann-Straussler disease (GSD) [MIM:137440]
P04156	PRIO_HUMAN	171	N	S	Polymorphism	-
P04156	PRIO_HUMAN	131	G	V	Disease	Gerstmann-Straussler disease (GSD) [MIM:137440]
P04156	PRIO_HUMAN	188	T	R	Polymorphism	-
P04156	PRIO_HUMAN	178	D	N	Disease	Creutzfeldt-Jakob disease (CJD) [MIM:123400]
P04156	PRIO_HUMAN	203	V	I	Unclassified	Creutzfeldt-Jakob disease (CJD) [MIM:123400]
P04156	PRIO_HUMAN	219	E	K	Polymorphism	-
P04156	PRIO_HUMAN	196	E	K	Disease	Creutzfeldt-Jakob disease (CJD) [MIM:123400]
P04156	PRIO_HUMAN	212	Q	P	Disease	Gerstmann-Straussler disease (GSD) [MIM:137440]
P04156	PRIO_HUMAN	208	R	H	Disease	Creutzfeldt-Jakob disease (CJD) [MIM:123400]
P04156	PRIO_HUMAN	178	D	N	Disease	Fatal familial insomnia (FFI) [MIM:600072]
P04156	PRIO_HUMAN	200	E	K	Disease	Creutzfeldt-Jakob disease (CJD) [MIM:123400]
P04156	PRIO_HUMAN	117	A	V	Polymorphism	-
P04156	PRIO_HUMAN	210	V	I	Disease	Creutzfeldt-Jakob disease (CJD) [MIM:123400]
P04179	SODM_HUMAN	82	I	T	Polymorphism	-
P04179	SODM_HUMAN	76	G	R	Polymorphism	-
P04179	SODM_HUMAN	66	E	V	Polymorphism	-
P04179	SODM_HUMAN	156	R	W	Polymorphism	-
P04179	SODM_HUMAN	16	V	A	Polymorphism	-
P04179	SODM_HUMAN	10	S	I	Polymorphism	-
P04180	LCAT_HUMAN	180	Y	N	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	182	R	C	Polymorphism	-
P04180	LCAT_HUMAN	347	R	C	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	268	R	C	Polymorphism	-
P04180	LCAT_HUMAN	99	W	S	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	171	R	W	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	57	G	R	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	406	F	V	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	338	L	F	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	322	R	C	Polymorphism	-
P04180	LCAT_HUMAN	396	L	R	Unclassified	-
P04180	LCAT_HUMAN	70	V	E	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	159	R	W	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	117	A	T	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	164	R	H	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	242	K	N	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	34	P	L	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	147	T	I	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	95	G	R	Unclassified	-
P04180	LCAT_HUMAN	317	M	I	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	115	S	P	Polymorphism	-
P04180	LCAT_HUMAN	333	V	M	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	159	R	Q	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	164	R	C	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	298	T	A	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	54	G	S	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	345	T	M	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	34	P	Q	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	268	R	H	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	246	V	F	Unclassified	-
P04180	LCAT_HUMAN	371	T	M	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	205	S	N	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	276	M	K	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	298	T	A	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	233	L	P	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	37	T	M	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	165	A	T	Polymorphism	-
P04180	LCAT_HUMAN	29	N	I	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	298	T	I	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	252	N	K	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	331	P	S	Disease	Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P04180	LCAT_HUMAN	123	R	C	Disease	Fish-eye disease (FED) [MIM:136120]
P04180	LCAT_HUMAN	232	S	T	Polymorphism	-
P04181	OAT_HUMAN	402	L	P	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	270	A	P	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	226	A	V	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	180	R	T	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	54	N	K	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	319	H	Y	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	154	R	L	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	417	P	L	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	90	Q	E	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	271	R	K	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	437	L	F	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	267	T	I	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	89	N	K	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	250	R	P	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	93	C	F	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	241	P	L	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	245	Y	C	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	353	G	D	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	199	P	Q	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	332	V	M	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	436	I	N	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	318	E	K	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	394	C	Y	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	104	Q	R	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	55	Y	H	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	375	G	A	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	51	G	D	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04181	OAT_HUMAN	394	C	R	Disease	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P04196	HRG_HUMAN	204	P	S	Polymorphism	-
P04196	HRG_HUMAN	340	H	R	Polymorphism	-
P04196	HRG_HUMAN	103	G	E	Disease	Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116]
P04196	HRG_HUMAN	493	N	I	Polymorphism	-
P04196	HRG_HUMAN	180	I	T	Polymorphism	-
P04196	HRG_HUMAN	241	C	R	Disease	Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116]
P04196	HRG_HUMAN	79	S	L	Polymorphism	-
P04196	HRG_HUMAN	448	R	C	Polymorphism	-
P04196	HRG_HUMAN	118	D	G	Polymorphism	-
P04196	HRG_HUMAN	436	G	R	Polymorphism	-
P04198	MYCN_HUMAN	393	R	H	Disease	Feingold syndrome 1 (FGLDS1) [MIM:164280]
P04198	MYCN_HUMAN	393	R	S	Disease	Feingold syndrome 1 (FGLDS1) [MIM:164280]
P04198	MYCN_HUMAN	394	R	H	Disease	Feingold syndrome 1 (FGLDS1) [MIM:164280]
P04217	A1BG_HUMAN	395	H	R	Polymorphism	-
P04217	A1BG_HUMAN	52	H	R	Polymorphism	-
P04222	1C03_HUMAN	138	D	V	Polymorphism	-
P04222	1C03_HUMAN	73	A	E	Polymorphism	-
P04222	1C03_HUMAN	127	V	L	Polymorphism	-
P04222	1C03_HUMAN	104	N	K	Polymorphism	-
P04222	1C03_HUMAN	118	I	T	Polymorphism	-
P04222	1C03_HUMAN	90	K	N	Polymorphism	-
P04222	1C03_HUMAN	121	R	S	Polymorphism	-
P04222	1C03_HUMAN	115	G	R	Polymorphism	-
P04222	1C03_HUMAN	101	S	N	Polymorphism	-
P04222	1C03_HUMAN	76	V	M	Polymorphism	-
P04222	1C03_HUMAN	272	V	M	Polymorphism	-
P04222	1C03_HUMAN	119	I	L	Polymorphism	-
P04222	1C03_HUMAN	140	Y	S	Polymorphism	-
P04229	2B11_HUMAN	164	G	D	Polymorphism	-
P04229	2B11_HUMAN	5	K	R	Polymorphism	-
P04229	2B11_HUMAN	89	Y	S	Polymorphism	-
P04229	2B11_HUMAN	171	V	M	Polymorphism	-
P04229	2B11_HUMAN	107	Y	H	Polymorphism	-
P04229	2B11_HUMAN	100	R	A	Polymorphism	-
P04229	2B11_HUMAN	102	A	G	Polymorphism	-
P04229	2B11_HUMAN	195	R	Q	Polymorphism	-
P04229	2B11_HUMAN	253	Q	E	Polymorphism	-
P04229	2B11_HUMAN	262	T	R	Polymorphism	-
P04229	2B11_HUMAN	114	V	A	Polymorphism	-
P04229	2B11_HUMAN	66	S	Y	Polymorphism	-
P04229	2B11_HUMAN	99	Q	H	Polymorphism	-
P04229	2B11_HUMAN	106	T	N	Polymorphism	-
P04229	2B11_HUMAN	115	G	V	Polymorphism	-
P04229	2B11_HUMAN	99	Q	D	Polymorphism	-
P04229	2B11_HUMAN	96	L	I	Polymorphism	-
P04229	2B11_HUMAN	99	Q	E	Polymorphism	-
P04229	2B11_HUMAN	39	Q	E	Polymorphism	-
P04229	2B11_HUMAN	33	R	Q	Polymorphism	-
P04229	2B11_HUMAN	103	A	E	Polymorphism	-
P04229	2B11_HUMAN	29	A	S	Polymorphism	-
P04229	2B11_HUMAN	100	R	E	Polymorphism	-
P04229	2B11_HUMAN	74	G	R	Polymorphism	-
P04234	CD3D_HUMAN	147	Q	R	Polymorphism	-
P04259	K2C6B_HUMAN	227	N	S	Polymorphism	-
P04259	K2C6B_HUMAN	21	N	S	Polymorphism	-
P04259	K2C6B_HUMAN	472	E	K	Disease	Pachyonychia congenita 4 (PC4) [MIM:615728]
P04259	K2C6B_HUMAN	365	I	V	Polymorphism	-
P04264	K2C1_HUMAN	188	N	S	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	155	V	G	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	490	E	Q	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	358	Y	N	Polymorphism	-
P04264	K2C1_HUMAN	633	K	R	Polymorphism	-
P04264	K2C1_HUMAN	188	N	K	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	193	S	P	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	486	L	P	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	186	S	P	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	478	E	Q	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	312	I	V	Polymorphism	-
P04264	K2C1_HUMAN	330	I	T	Polymorphism	-
P04264	K2C1_HUMAN	479	I	F	Disease	Ichthyosis annular epidermolytic (AEI) [MIM:607602]
P04264	K2C1_HUMAN	161	L	P	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	482	Y	C	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	485	L	P	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	479	I	T	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	155	V	D	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	214	L	P	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	454	A	S	Polymorphism	-
P04264	K2C1_HUMAN	188	N	T	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	479	I	T	Disease	Ichthyosis annular epidermolytic (AEI) [MIM:607602]
P04264	K2C1_HUMAN	537	G	C	Polymorphism	-
P04264	K2C1_HUMAN	74	K	I	Disease	Keratoderma, palmoplantar, non-epidermolytic (NEPPK) [MIM:600962]
P04264	K2C1_HUMAN	340	D	V	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04264	K2C1_HUMAN	490	E	K	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P04275	VWF_HUMAN	1272	C	R	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1266	P	L	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1306	R	W	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	857	N	D	Polymorphism	-
P04275	VWF_HUMAN	1268	H	D	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1609	G	R	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	2739	C	Y	Disease	Von Willebrand disease 3 (VWD3) [MIM:277480]
P04275	VWF_HUMAN	1540	L	P	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1613	S	P	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1638	E	K	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1308	R	C	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1597	R	Q	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1628	I	T	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1665	V	E	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	2546	N	Y	Disease	Von Willebrand disease 3 (VWD3) [MIM:277480]
P04275	VWF_HUMAN	854	R	Q	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1597	R	W	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	2362	C	F	Disease	Von Willebrand disease 3 (VWD3) [MIM:277480]
P04275	VWF_HUMAN	1607	V	D	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	2063	P	S	Disease	Von Willebrand disease 3 (VWD3) [MIM:277480]
P04275	VWF_HUMAN	528	N	S	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1648	P	S	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1597	R	G	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1314	V	L	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1313	W	C	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1318	V	L	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1374	R	C	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	740	M	I	Polymorphism	-
P04275	VWF_HUMAN	273	R	W	Disease	Von Willebrand disease 1 (VWD1) [MIM:193400]
P04275	VWF_HUMAN	1399	R	H	Polymorphism	-
P04275	VWF_HUMAN	273	R	W	Disease	Von Willebrand disease 3 (VWD3) [MIM:277480]
P04275	VWF_HUMAN	1584	Y	C	Polymorphism	-
P04275	VWF_HUMAN	471	V	I	Polymorphism	-
P04275	VWF_HUMAN	2705	G	R	Polymorphism	-
P04275	VWF_HUMAN	1149	C	R	Disease	Von Willebrand disease 1 (VWD1) [MIM:193400]
P04275	VWF_HUMAN	2178	A	S	Polymorphism	-
P04275	VWF_HUMAN	2773	C	R	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1374	R	H	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	791	T	M	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	885	F	S	Polymorphism	-
P04275	VWF_HUMAN	852	Q	R	Polymorphism	-
P04275	VWF_HUMAN	318	N	K	Polymorphism	-
P04275	VWF_HUMAN	377	W	C	Disease	Von Willebrand disease 3 (VWD3) [MIM:277480]
P04275	VWF_HUMAN	2185	R	Q	Polymorphism	-
P04275	VWF_HUMAN	484	H	R	Polymorphism	-
P04275	VWF_HUMAN	788	C	Y	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1316	V	M	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1324	G	S	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1272	C	F	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1565	V	L	Polymorphism	-
P04275	VWF_HUMAN	1461	A	V	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	789	T	A	Polymorphism	-
P04275	VWF_HUMAN	816	R	W	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1460	L	V	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	550	G	R	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1381	T	A	Polymorphism	-
P04275	VWF_HUMAN	1570	Y	C	Unclassified	A breast cancer sample
P04275	VWF_HUMAN	1472	D	H	Polymorphism	-
P04275	VWF_HUMAN	1060	C	R	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1341	R	Q	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04275	VWF_HUMAN	1514	F	C	Disease	Von Willebrand disease 2 (VWD2) [MIM:613554]
P04278	SHBG_HUMAN	185	P	L	Polymorphism	-
P04278	SHBG_HUMAN	22	R	H	Polymorphism	-
P04278	SHBG_HUMAN	25	R	H	Polymorphism	-
P04278	SHBG_HUMAN	356	D	N	Polymorphism	-
P04279	SEMG1_HUMAN	108	H	R	Polymorphism	-
P04279	SEMG1_HUMAN	372	R	L	Polymorphism	-
P04279	SEMG1_HUMAN	79	S	T	Polymorphism	-
P04279	SEMG1_HUMAN	58	E	G	Polymorphism	-
P04280	PRP1_HUMAN	337	S	A	Polymorphism	-
P04350	TBB4A_HUMAN	155	I	M	Polymorphism	-
P04350	TBB4A_HUMAN	249	D	N	Disease	Leukodystrophy, hypomyelinating, 6 (HLD) [MIM:612438]
P04350	TBB4A_HUMAN	2	R	G	Disease	Dystonia 4, torsion, autosomal dominant (DYT4) [MIM:128101]
P04350	TBB4A_HUMAN	365	A	V	Polymorphism	-
P04406	G3P_HUMAN	251	K	N	Polymorphism	-
P04406	G3P_HUMAN	22	A	G	Polymorphism	-
P04424	ARLY_HUMAN	326	Q	L	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	227	L	P	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	156	P	R	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	229	S	T	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	295	L	P	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	229	S	R	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	231	D	E	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	213	R	Q	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	433	S	R	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	343	L	F	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	146	R	W	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	343	L	P	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	168	R	H	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	297	R	Q	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	186	R	Q	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	236	R	W	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	262	L	P	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	256	M	T	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	368	M	V	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	306	R	W	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	385	R	L	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	200	G	V	Unclassified	A breast cancer sample
P04424	ARLY_HUMAN	113	R	Q	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	456	R	W	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	380	K	E	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	237	D	N	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	385	R	H	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	94	R	H	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	385	R	C	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	160	H	N	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	166	P	H	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	170	S	N	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	73	E	K	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	456	R	Q	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	111	R	W	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	447	S	N	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	335	V	L	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	382	M	R	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	434	V	L	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	31	D	N	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	324	D	A	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	104	A	V	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	70	V	A	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	178	V	M	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	301	G	R	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	388	H	Q	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	121	L	H	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	95	R	C	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	193	R	Q	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	205	A	V	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	182	R	Q	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	286	Q	R	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	95	R	H	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	379	R	C	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	193	R	W	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	126	R	W	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	120	D	E	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	191	R	W	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	181	T	S	Unclassified	A breast cancer sample
P04424	ARLY_HUMAN	94	R	C	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04424	ARLY_HUMAN	180	L	R	Disease	Argininosuccinic aciduria (ARGINSA) [MIM:207900]
P04435	TVB79_HUMAN	30	K	N	Polymorphism	-
P04439	1A03_HUMAN	185	D	E	Polymorphism	-
P04439	1A03_HUMAN	121	I	M	Polymorphism	-
P04439	1A03_HUMAN	186	G	A	Polymorphism	-
P04439	1A03_HUMAN	131	G	W	Polymorphism	-
P04439	1A03_HUMAN	205	R	H	Polymorphism	-
P04439	1A03_HUMAN	94	Q	H	Polymorphism	-
P04439	1A03_HUMAN	180	L	Q	Polymorphism	-
P04439	1A03_HUMAN	199	G	R	Polymorphism	-
P04439	1A03_HUMAN	169	R	H	Polymorphism	-
P04439	1A03_HUMAN	89	R	G	Polymorphism	-
P04439	1A03_HUMAN	129	S	P	Polymorphism	-
P04439	1A03_HUMAN	176	E	V	Polymorphism	-
P04439	1A03_HUMAN	166	I	T	Polymorphism	-
P04439	1A03_HUMAN	101	D	N	Polymorphism	-
P04439	1A03_HUMAN	133	F	L	Polymorphism	-
P04439	1A03_HUMAN	151	N	K	Polymorphism	-
P04440	DPB1_HUMAN	72	G	W	Polymorphism	-
P04440	DPB1_HUMAN	113	G	V	Polymorphism	-
P04440	DPB1_HUMAN	94	I	L	Polymorphism	-
P04440	DPB1_HUMAN	125	R	K	Polymorphism	-
P04440	DPB1_HUMAN	40	G	L	Polymorphism	-
P04440	DPB1_HUMAN	199	T	I	Polymorphism	-
P04440	DPB1_HUMAN	44	C	G	Polymorphism	-
P04440	DPB1_HUMAN	85	A	E	Polymorphism	-
P04440	DPB1_HUMAN	33	P	A	Polymorphism	-
P04440	DPB1_HUMAN	99	R	W	Polymorphism	-
P04440	DPB1_HUMAN	93	D	H	Polymorphism	-
P04440	DPB1_HUMAN	38	F	L	Polymorphism	-
P04440	DPB1_HUMAN	101	V	L	Polymorphism	-
P04440	DPB1_HUMAN	24	T	I	Polymorphism	-
P04440	DPB1_HUMAN	40	G	V	Polymorphism	-
P04440	DPB1_HUMAN	86	E	V	Polymorphism	-
P04440	DPB1_HUMAN	31	A	L	Polymorphism	-
P04440	DPB1_HUMAN	37	L	V	Polymorphism	-
P04440	DPB1_HUMAN	38	F	H	Polymorphism	-
P04440	DPB1_HUMAN	113	G	D	Polymorphism	-
P04440	DPB1_HUMAN	46	A	T	Polymorphism	-
P04440	DPB1_HUMAN	46	A	P	Polymorphism	-
P04440	DPB1_HUMAN	61	R	P	Polymorphism	-
P04440	DPB1_HUMAN	32	T	P	Polymorphism	-
P04440	DPB1_HUMAN	30	R	P	Polymorphism	-
P04440	DPB1_HUMAN	94	I	N	Polymorphism	-
P04440	DPB1_HUMAN	64	F	L	Polymorphism	-
P04440	DPB1_HUMAN	41	R	L	Polymorphism	-
P04440	DPB1_HUMAN	16	T	M	Polymorphism	-
P04440	DPB1_HUMAN	89	N	H	Polymorphism	-
P04440	DPB1_HUMAN	38	F	D	Polymorphism	-
P04440	DPB1_HUMAN	98	K	R	Polymorphism	-
P04440	DPB1_HUMAN	113	G	N	Polymorphism	-
P04440	DPB1_HUMAN	64	F	Y	Polymorphism	-
P04440	DPB1_HUMAN	38	F	Y	Polymorphism	-
P04440	DPB1_HUMAN	244	I	T	Polymorphism	-
P04440	DPB1_HUMAN	120	R	H	Polymorphism	-
P04440	DPB1_HUMAN	65	A	V	Polymorphism	-
P04440	DPB1_HUMAN	116	M	V	Polymorphism	-
P04440	DPB1_HUMAN	207	L	M	Polymorphism	-
P04440	DPB1_HUMAN	68	D	Y	Polymorphism	-
P04440	DPB1_HUMAN	86	E	D	Polymorphism	-
P04440	DPB1_HUMAN	102	P	L	Polymorphism	-
P04440	DPB1_HUMAN	84	A	D	Polymorphism	-
P04440	DPB1_HUMAN	105	M	I	Polymorphism	-
P04440	DPB1_HUMAN	57	Y	D	Polymorphism	-
P04440	DPB1_HUMAN	223	R	Q	Polymorphism	-
P04440	DPB1_HUMAN	114	G	E	Polymorphism	-
P04440	DPB1_HUMAN	105	M	V	Polymorphism	-
P04440	DPB1_HUMAN	62	E	Q	Polymorphism	-
P04440	DPB1_HUMAN	234	V	M	Polymorphism	-
P04440	DPB1_HUMAN	84	A	V	Polymorphism	-
P04440	DPB1_HUMAN	115	P	A	Polymorphism	-
P04440	DPB1_HUMAN	98	K	E	Polymorphism	-
P04440	DPB1_HUMAN	94	I	F	Polymorphism	-
P04440	DPB1_HUMAN	84	A	E	Polymorphism	-
P04626	ERBB2_HUMAN	655	I	V	Polymorphism	-
P04626	ERBB2_HUMAN	1170	P	A	Polymorphism	-
P04626	ERBB2_HUMAN	857	N	S	Unclassified	Ovarian cancer (OC) [MIM:167000]
P04626	ERBB2_HUMAN	755	L	P	Unclassified	Lung cancer (LNCR) [MIM:211980]
P04626	ERBB2_HUMAN	914	E	K	Unclassified	Glioma (GLM) [MIM:137800]
P04626	ERBB2_HUMAN	1216	A	D	Polymorphism	-
P04626	ERBB2_HUMAN	776	G	S	Unclassified	Gastric cancer (GASC) [MIM:613659]
P04626	ERBB2_HUMAN	654	I	V	Polymorphism	-
P04626	ERBB2_HUMAN	452	W	C	Polymorphism	-
P04626	ERBB2_HUMAN	768	L	S	Polymorphism	-
P04628	WNT1_HUMAN	298	F	C	Disease	Osteogenesis imperfecta 15 (OI15) [MIM:615220]
P04628	WNT1_HUMAN	177	G	C	Disease	Osteogenesis imperfecta 15 (OI15) [MIM:615220]
P04628	WNT1_HUMAN	218	C	G	Disease	Osteoporosis (OSTEOP) [MIM:166710]
P04628	WNT1_HUMAN	143	C	F	Disease	Osteogenesis imperfecta 15 (OI15) [MIM:615220]
P04628	WNT1_HUMAN	153	C	G	Disease	Osteogenesis imperfecta 15 (OI15) [MIM:615220]
P04628	WNT1_HUMAN	123	E	D	Disease	Osteogenesis imperfecta 15 (OI15) [MIM:615220]
P04628	WNT1_HUMAN	355	V	F	Disease	Osteogenesis imperfecta 15 (OI15) [MIM:615220]
P04628	WNT1_HUMAN	235	R	W	Disease	Osteoporosis (OSTEOP) [MIM:166710]
P04629	NTRK1_HUMAN	110	A	D	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	649	R	Q	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	517	G	E	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	237	T	M	Polymorphism	-
P04629	NTRK1_HUMAN	572	I	S	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	566	M	T	Polymorphism	-
P04629	NTRK1_HUMAN	522	G	E	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	700	L	P	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	522	G	R	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	771	R	C	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	714	G	S	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	260	R	G	Polymorphism	-
P04629	NTRK1_HUMAN	238	V	G	Polymorphism	-
P04629	NTRK1_HUMAN	492	E	K	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	790	V	I	Polymorphism	-
P04629	NTRK1_HUMAN	613	G	V	Polymorphism	-
P04629	NTRK1_HUMAN	18	G	E	Polymorphism	-
P04629	NTRK1_HUMAN	359	Y	C	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	780	R	P	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	763	C	S	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	752	C	S	Unclassified	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	695	P	L	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	107	A	V	Unclassified	An ovarian serous carcinoma sample
P04629	NTRK1_HUMAN	604	H	Y	Polymorphism	-
P04629	NTRK1_HUMAN	657	L	P	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	699	I	T	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	452	R	C	Polymorphism	-
P04629	NTRK1_HUMAN	780	R	Q	Polymorphism	-
P04629	NTRK1_HUMAN	596	D	N	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	577	G	R	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	717	L	R	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	444	R	Q	Polymorphism	-
P04629	NTRK1_HUMAN	6	R	W	Polymorphism	-
P04629	NTRK1_HUMAN	649	R	W	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	587	M	V	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	674	D	Y	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	93	L	P	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	80	Q	R	Polymorphism	-
P04629	NTRK1_HUMAN	213	L	P	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	654	R	C	Disease	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
P04629	NTRK1_HUMAN	85	R	S	Polymorphism	-
P04632	CPNS1_HUMAN	224	M	V	Polymorphism	-
P04637	P53_HUMAN	188	L	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	129	A	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	130	L	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	129	A	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	258	E	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	301	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	302	G	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	135	C	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	37	S	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	300	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	258	E	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	127	S	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	202	R	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	104	Q	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	201	L	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	136	Q	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	105	G	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	105	G	C	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	209	R	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	136	Q	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	210	N	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	101	K	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	214	H	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	279	G	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	291	K	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	128	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	42	D	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	277	C	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	129	A	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	256	T	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	128	P	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	101	K	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	200	N	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	268	N	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	257	L	Q	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	291	K	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	125	T	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	260	S	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	116	S	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	96	S	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	291	K	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	99	S	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	200	N	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	209	R	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	317	Q	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	300	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	186	D	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	137	L	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	127	S	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	299	L	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	214	H	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	257	L	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	128	P	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	292	K	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	127	S	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	201	L	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	97	V	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	124	C	W	Unclassified	A sporadic cancer
P04637	P53_HUMAN	98	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	260	S	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	200	N	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	294	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	291	K	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	279	G	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	118	T	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	44	M	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	209	R	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	293	G	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	116	S	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	292	K	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	139	K	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	115	H	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	110	R	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	126	Y	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	124	C	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	94	S	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	297	H	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	124	C	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	102	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	209	R	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	97	V	I	Unclassified	Familial cancer not matching LFS
P04637	P53_HUMAN	317	Q	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	269	S	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	297	H	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	264	L	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	130	L	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	125	T	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	300	P	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	290	R	H	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	258	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	271	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	213	R	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	135	C	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	291	K	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	208	D	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	125	T	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	198	E	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	301	P	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	301	P	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	316	P	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	292	K	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	199	G	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	200	N	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	290	R	L	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	277	C	Y	Unclassified	An osteosarcoma with no family history
P04637	P53_HUMAN	212	F	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	100	Q	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	127	S	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	116	S	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	126	Y	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	208	D	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	212	F	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	59	G	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	60	P	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	87	P	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	297	H	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	211	T	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	79	A	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	282	R	G	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	268	N	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	67	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	317	Q	H	Unclassified	A kidney cancer with no family history
P04637	P53_HUMAN	207	D	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	212	F	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	214	H	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	130	L	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	288	N	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	298	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	131	N	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	213	R	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	131	N	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	296	H	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	257	L	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	130	L	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	297	H	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	67	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	138	A	P	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	269	S	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	198	E	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	301	P	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	270	F	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	259	D	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	259	D	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	200	N	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	292	K	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	33	S	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	280	R	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	268	N	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	54	F	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	265	L	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	179	H	Y	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	118	T	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	211	T	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	110	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	297	H	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	123	T	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	120	K	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	296	H	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	319	K	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	111	L	M	Unclassified	A sporadic cancer
P04637	P53_HUMAN	207	D	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	111	L	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	111	L	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	290	R	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	112	G	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	299	L	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	299	L	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	267	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	298	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	267	R	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	256	T	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	133	M	T	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	298	E	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	328	F	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	39	A	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	268	N	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	317	Q	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	316	P	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	49	D	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	269	S	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	170	T	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	73	V	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	173	V	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	260	S	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	99	S	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	291	K	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	201	L	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	60	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	264	L	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	264	L	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	56	E	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	121	S	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	122	V	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	119	A	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	119	A	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	180	E	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	263	N	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	117	G	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	185	S	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	124	C	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	207	D	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	126	Y	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	126	Y	C	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	289	L	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	289	L	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	288	N	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	315	S	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	288	N	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	238	C	S	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	288	N	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	213	R	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	197	V	M	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	172	V	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	132	K	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	129	A	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	259	D	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	66	M	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	187	G	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	188	L	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	138	A	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	113	F	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	198	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	49	D	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	173	V	M	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	296	H	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	98	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	292	K	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	280	R	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	263	N	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	211	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	59	G	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	56	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	263	N	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	58	P	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	118	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	134	F	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	218	V	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	120	K	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	264	L	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	207	D	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	212	F	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	205	Y	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	204	E	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	185	S	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	204	E	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	110	R	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	289	L	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	298	E	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	244	G	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	154	G	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	111	L	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	228	D	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	185	S	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	254	I	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	337	R	H	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	186	D	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	186	D	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	222	P	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	234	Y	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	208	D	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	69	A	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	260	S	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	69	A	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	269	S	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	270	F	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	287	E	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	276	A	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	261	S	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	104	Q	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	184	D	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	181	R	C	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	263	N	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	211	T	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	120	K	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	182	C	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	181	R	P	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	293	G	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	245	G	S	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	296	H	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	124	C	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	207	D	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	295	P	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	185	S	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	205	Y	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	265	L	P	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	288	N	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	287	E	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	314	S	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	238	C	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	138	A	S	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	252	L	P	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	128	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	137	L	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	186	D	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	132	K	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	31	V	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	44	M	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	185	S	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	65	R	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	214	H	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	325	G	V	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	187	G	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	235	N	M	Unclassified	A sporadic cancer
P04637	P53_HUMAN	172	V	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	199	G	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	199	G	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	274	V	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	96	S	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	322	P	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	58	P	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	184	D	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	183	S	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	181	R	H	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	262	G	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	120	K	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	294	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	308	L	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	85	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	54	F	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	211	T	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	35	L	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	206	L	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	206	L	M	Unclassified	A sporadic cancer
P04637	P53_HUMAN	7	D	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	204	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	298	E	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	125	T	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	289	L	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	315	S	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	217	V	M	Polymorphism	-
P04637	P53_HUMAN	289	L	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	327	Y	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	253	T	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	253	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	253	T	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	268	N	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	126	Y	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	266	G	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	222	P	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	301	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	260	S	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	309	P	S	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	260	S	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	46	S	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	177	P	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	47	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	96	S	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	261	S	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	271	E	V	Unclassified	An osteosarcoma with no family history
P04637	P53_HUMAN	180	E	K	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	106	S	R	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	181	R	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	210	N	Y	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	210	N	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	304	T	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	217	V	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	180	E	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	180	E	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	365	H	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	150	T	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	207	D	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	110	R	L	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	294	E	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	204	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	43	L	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	205	Y	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	110	R	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	125	T	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	17	E	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	265	L	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	153	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	360	G	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	154	G	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	238	C	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	299	L	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	278	P	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	34	P	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	39	A	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	154	G	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	63	A	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	269	S	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	113	F	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	67	P	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	68	E	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	269	S	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	270	F	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	281	D	N	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	173	V	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	319	K	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	282	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	282	R	Q	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	105	G	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	181	R	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	218	V	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	210	N	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	123	T	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	217	V	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	80	P	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	348	L	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	151	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	113	F	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	108	G	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	214	H	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	150	T	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	281	D	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	295	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	296	H	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	287	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	184	D	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	158	R	G	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	165	Q	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	165	Q	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	168	H	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	222	P	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	197	V	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	267	R	Q	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	127	S	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	126	Y	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	258	E	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	47	P	S	Polymorphism	-
P04637	P53_HUMAN	228	D	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	187	G	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	302	G	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	248	R	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	139	K	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	224	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	223	P	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	147	V	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	178	H	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	322	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	183	S	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	263	N	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	133	M	R	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	117	G	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	192	Q	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	80	P	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	261	S	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	179	H	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	191	P	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	218	V	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	151	P	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	296	H	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	296	H	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	15	S	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	235	N	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	256	T	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	166	S	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	185	S	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	24	K	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	226	G	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	327	Y	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	190	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	143	V	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	254	I	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	171	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	172	V	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	254	I	M	Unclassified	A sporadic cancer
P04637	P53_HUMAN	229	C	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	376	S	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	199	G	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	266	G	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	166	S	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	48	D	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	112	G	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	113	F	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	334	G	W	Unclassified	A sporadic cancer
P04637	P53_HUMAN	277	C	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	97	V	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	276	A	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	337	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	279	G	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	277	C	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	282	R	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	106	S	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	293	G	W	Unclassified	A brain tumor with no family history
P04637	P53_HUMAN	293	G	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	151	P	T	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	81	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	344	L	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	238	C	Y	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	180	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	110	R	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	107	Y	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	347	A	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	202	R	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	72	P	R	Polymorphism	-
P04637	P53_HUMAN	241	S	T	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	235	N	D	Unclassified	An adrenocortical carcinoma with no family history
P04637	P53_HUMAN	295	P	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	294	E	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	153	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	356	G	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	363	R	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	154	G	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	153	P	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	266	G	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	62	E	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	266	G	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	174	R	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	262	G	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	234	Y	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	208	D	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	66	M	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	385	F	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	155	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	73	V	E	Unclassified	A sporadic cancer
P04637	P53_HUMAN	71	P	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	46	S	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	335	R	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	95	S	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	210	N	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	182	C	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	264	L	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	210	N	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	133	M	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	133	M	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	262	G	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	348	L	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	191	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	191	P	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	180	E	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	179	H	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	245	G	D	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	174	R	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	240	S	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	174	R	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	245	G	C	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	60	P	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	313	S	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	136	Q	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	312	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	313	S	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	312	T	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	138	A	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	221	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	198	E	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	196	R	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	275	C	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	186	D	E	Unclassified	A sporadic cancer
P04637	P53_HUMAN	236	Y	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	139	K	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	376	S	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	216	V	W	Unclassified	A sporadic cancer
P04637	P53_HUMAN	307	A	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	247	N	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	229	C	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	223	P	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	276	A	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	223	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	335	R	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	95	S	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	278	P	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	277	C	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	133	M	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	283	R	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	261	S	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	82	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	192	Q	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	179	H	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	235	N	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	217	V	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	109	F	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	218	V	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	149	S	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	218	V	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	150	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	174	R	G	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	313	S	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	16	Q	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	233	H	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	134	F	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	326	E	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	267	R	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	286	E	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	323	L	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	171	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	173	V	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	273	R	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	251	I	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	247	N	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	259	D	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	334	G	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	208	D	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	208	D	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	259	D	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	178	H	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	147	V	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	177	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	45	L	M	Unclassified	A sporadic cancer
P04637	P53_HUMAN	276	A	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	195	I	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	342	R	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	294	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	175	R	L	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	262	G	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	134	F	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	52	Q	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	354	Q	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	305	K	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	147	V	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	241	S	F	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	347	A	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	256	T	I	Unclassified	A brain tumor with no family history
P04637	P53_HUMAN	193	H	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	109	F	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	255	I	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	310	N	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	5	Q	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	346	E	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	295	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	353	A	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	360	G	A	Polymorphism	-
P04637	P53_HUMAN	356	G	W	Unclassified	A sporadic cancer
P04637	P53_HUMAN	248	R	W	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	251	I	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	153	P	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	267	R	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	364	A	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	61	D	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	212	F	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	144	Q	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	259	D	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	219	P	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	63	A	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	258	E	K	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	365	H	Y	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	68	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	139	K	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	270	F	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	198	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	224	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	224	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	321	K	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	210	N	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	192	Q	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	320	K	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	82	P	L	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	305	K	E	Unclassified	A sporadic cancer
P04637	P53_HUMAN	178	H	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	150	T	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	77	P	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	150	T	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	245	G	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	109	F	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	148	D	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	84	A	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	285	E	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	254	I	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	194	L	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	136	Q	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	164	K	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	90	S	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	222	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	313	S	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	222	P	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	196	R	P	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	137	L	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	315	S	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	92	P	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	273	R	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	61	D	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	93	L	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	37	S	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	306	R	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	203	V	W	Unclassified	A sporadic cancer
P04637	P53_HUMAN	300	P	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	302	G	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	223	P	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	170	T	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	94	S	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	335	R	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	331	Q	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	231	T	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	321	K	E	Unclassified	Kidney cancer
P04637	P53_HUMAN	175	R	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	261	S	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	225	V	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	280	R	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	305	K	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	79	A	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	233	H	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	193	H	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	309	P	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	242	C	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	193	H	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	223	P	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	84	A	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	193	H	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	255	I	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	177	P	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	11	E	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	184	D	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	292	K	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	246	M	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	273	R	L	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	171	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	271	E	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	259	D	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	252	L	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	257	L	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	169	M	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	28	E	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	222	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	178	H	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	178	H	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	176	C	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	176	C	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	330	L	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	265	L	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	175	R	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	168	H	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	168	H	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	167	Q	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	53	W	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	294	E	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	134	F	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	49	D	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	179	H	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	179	H	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	179	H	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	192	Q	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	228	D	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	150	T	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	217	V	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	255	I	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	271	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	203	V	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	11	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	155	T	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	194	L	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	53	W	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	196	R	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	352	D	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	358	E	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	237	M	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	153	P	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	237	M	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	238	C	G	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	152	P	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	137	L	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	252	L	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	144	Q	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	174	R	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	166	S	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	370	K	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	364	A	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	215	S	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	239	N	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	69	A	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	73	V	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	332	I	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	205	Y	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	331	Q	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	318	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	134	F	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	174	R	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	305	K	M	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	133	M	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	152	P	L	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	305	K	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	235	N	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	76	A	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	191	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	149	S	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	238	C	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	203	V	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	242	C	Y	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	281	D	V	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	284	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	191	P	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	196	R	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	213	R	P	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	311	N	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	163	Y	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	195	I	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	221	E	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	160	M	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	92	P	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	197	V	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	253	T	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	248	R	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	236	Y	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	169	M	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	253	T	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	166	S	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	164	K	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	176	C	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	226	G	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	187	G	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	167	Q	K	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	223	P	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	292	K	I	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	249	R	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	194	L	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	319	K	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	323	L	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	254	I	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	366	S	A	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	281	D	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	202	R	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	306	R	P	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	230	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	220	Y	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	190	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	79	A	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	231	T	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	255	I	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	255	I	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	217	V	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	135	C	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	195	I	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	89	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	324	D	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	254	I	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	171	E	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	6	S	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	170	T	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	241	S	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	170	T	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	354	Q	E	Unclassified	A sporadic cancer
P04637	P53_HUMAN	197	V	E	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	276	A	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	252	L	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	337	R	C	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	44	M	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	177	P	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	165	Q	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	147	V	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	145	L	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	331	Q	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	338	F	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	329	T	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	230	T	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	167	Q	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	330	L	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	270	F	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	317	Q	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	344	L	P	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	148	D	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	178	H	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	342	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	149	S	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	304	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	204	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	108	G	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	216	V	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	75	P	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	132	K	W	Unclassified	A sporadic cancer
P04637	P53_HUMAN	284	T	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	184	D	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	310	N	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	189	A	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	89	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	246	M	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	246	M	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	249	R	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	248	R	Q	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	152	P	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	237	M	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	93	L	M	Unclassified	A sporadic cancer
P04637	P53_HUMAN	262	G	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	252	L	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	236	Y	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	229	C	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	165	Q	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	168	H	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	176	C	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	286	E	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	239	N	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	389	G	W	Unclassified	A sporadic cancer
P04637	P53_HUMAN	379	R	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	189	A	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	189	A	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	230	T	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	238	C	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	258	E	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	75	P	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	74	A	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	307	A	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	132	K	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	132	K	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	178	H	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	233	H	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	220	Y	C	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	234	Y	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	204	E	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	202	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	107	Y	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	281	D	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	159	A	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	10	V	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	273	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	171	E	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	88	A	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	195	I	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	158	R	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	275	C	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	90	S	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	158	R	H	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	171	E	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	237	M	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	151	P	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	196	R	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	160	M	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	144	Q	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	177	P	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	162	I	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	250	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	247	N	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	247	N	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	246	M	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	166	S	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	286	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	146	W	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	329	T	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	304	T	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	194	L	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	167	Q	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	254	I	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	224	E	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	140	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	307	A	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	78	A	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	190	P	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	145	L	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	233	H	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	232	I	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	280	R	K	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	286	E	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	228	D	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	152	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	143	V	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	194	L	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	227	S	T	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	205	Y	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	245	G	V	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	249	R	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	251	I	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	152	P	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	236	Y	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	274	V	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	92	P	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	251	I	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	251	I	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	157	V	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	164	K	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	36	P	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	244	G	E	Unclassified	A sporadic cancer
P04637	P53_HUMAN	145	L	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	145	L	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	146	W	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	147	V	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	189	A	V	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	189	A	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	193	H	R	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	248	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	190	P	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	342	R	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	339	E	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	237	M	I	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	234	Y	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	148	D	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	235	N	S	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	148	D	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	203	V	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	271	E	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	143	V	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	203	V	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	157	V	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	280	R	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	285	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	83	A	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	172	V	F	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	272	V	A	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	135	C	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	275	C	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	247	N	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	354	Q	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	162	I	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	275	C	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	268	N	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	163	Y	C	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	236	Y	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	276	A	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	142	P	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	165	Q	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	164	K	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	175	R	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	296	H	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	208	D	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	364	A	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	246	M	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	245	G	E	Unclassified	A sporadic cancer
P04637	P53_HUMAN	177	P	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	239	N	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	328	F	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	131	N	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	130	L	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	131	N	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	131	N	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	131	N	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	308	L	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	271	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	132	K	E	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	233	H	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	107	Y	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	283	R	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	241	S	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	202	R	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	325	G	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	159	A	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	228	D	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	311	N	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	8	P	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	172	V	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	271	E	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	221	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	161	A	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	349	E	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	358	E	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	248	R	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	246	M	V	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	91	W	C	Unclassified	A sporadic cancer
P04637	P53_HUMAN	251	I	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	250	P	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	281	D	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	163	Y	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	163	Y	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	146	W	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	193	H	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	247	N	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	330	L	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	230	T	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	69	A	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	177	P	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	189	A	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	70	A	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	131	N	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	216	V	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	205	Y	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	139	K	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	168	H	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	105	G	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	202	R	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	190	P	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	231	T	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	242	C	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	176	C	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	157	V	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	325	G	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	287	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	158	R	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	285	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	219	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	193	H	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	272	V	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	136	Q	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	195	I	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	311	N	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	195	I	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	157	V	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	157	V	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	283	R	C	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	235	N	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	161	A	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	251	I	M	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	160	M	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	163	Y	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	163	Y	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	164	K	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	286	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	245	G	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	244	G	V	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	195	I	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	258	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	273	R	C	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	158	R	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	270	F	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	302	G	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	303	S	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	343	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	234	Y	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	234	Y	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	234	Y	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	232	I	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	144	Q	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	105	G	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	158	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	143	V	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	226	G	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	287	E	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	143	V	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	281	D	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	228	D	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	177	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	170	T	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	311	N	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	271	E	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	164	K	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	274	V	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	236	Y	C	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	237	M	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	152	P	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	161	A	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	259	D	S	Unclassified	A sporadic cancer
P04637	P53_HUMAN	159	A	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	113	F	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	243	M	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	146	W	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	146	W	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	328	F	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	286	E	A	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	229	C	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	244	G	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	286	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	173	V	W	Unclassified	A sporadic cancer
P04637	P53_HUMAN	283	R	H	Unclassified	A brain tumor with no family history
P04637	P53_HUMAN	155	T	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	241	S	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	324	D	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	75	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	190	P	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	304	T	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	151	P	S	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	76	A	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	147	V	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	151	P	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	227	S	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	158	R	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	227	S	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	187	G	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	181	R	L	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	160	M	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	273	R	S	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	86	A	V	Unclassified	A sporadic cancer
P04637	P53_HUMAN	220	Y	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	194	L	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	274	V	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	220	Y	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	88	A	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	135	C	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	274	V	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	220	Y	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	282	R	W	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	282	R	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	239	N	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	239	N	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	337	R	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	244	G	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	162	I	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	244	G	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	192	Q	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	200	N	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	285	E	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	158	R	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	285	E	Q	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	250	P	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	225	V	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	323	L	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	228	D	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	186	D	Y	Unclassified	A sporadic cancer
P04637	P53_HUMAN	250	P	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	245	G	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	175	R	G	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	140	T	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	140	T	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	247	N	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	141	C	Y	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	323	L	M	Unclassified	A sporadic cancer
P04637	P53_HUMAN	161	A	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	249	R	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	159	A	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	239	N	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	273	R	G	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	255	I	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	173	V	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	187	G	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	219	P	H	Unclassified	A sporadic cancer
P04637	P53_HUMAN	154	G	V	Unclassified	A brain tumor with no family history
P04637	P53_HUMAN	219	P	S	Unclassified	A familial cancer not matching LFS
P04637	P53_HUMAN	162	I	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	135	C	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	243	M	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	132	K	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	175	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	142	P	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	324	D	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	215	S	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	284	T	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	230	T	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	229	C	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	244	G	D	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	285	E	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	153	P	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	154	G	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	141	C	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	219	P	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	221	E	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	243	M	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	225	V	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	158	R	Q	Unclassified	A sporadic cancer
P04637	P53_HUMAN	148	D	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	338	F	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	234	Y	C	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	220	Y	S	Unclassified	A brain tumor with no family history
P04637	P53_HUMAN	232	I	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	233	H	D	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	249	R	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	156	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	159	A	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	215	S	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	339	E	K	Unclassified	A sporadic cancer
P04637	P53_HUMAN	161	A	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	272	V	L	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	83	A	E	Unclassified	A sporadic cancer
P04637	P53_HUMAN	153	P	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	85	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	142	P	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	273	R	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	272	V	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	221	E	D	Unclassified	Sporadic cancers
P04637	P53_HUMAN	283	R	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	303	S	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	242	C	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	283	R	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	157	V	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	226	G	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	240	S	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	141	C	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	162	I	M	Unclassified	Sporadic cancers
P04637	P53_HUMAN	162	I	N	Unclassified	A breast cancer with no family history
P04637	P53_HUMAN	161	A	F	Unclassified	A sporadic cancer
P04637	P53_HUMAN	243	M	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	243	M	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	215	S	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	219	P	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	135	C	T	Unclassified	A sporadic cancer
P04637	P53_HUMAN	240	S	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	161	A	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	156	R	H	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	142	P	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	130	L	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	216	V	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	303	S	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	132	K	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	145	L	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	216	V	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	272	V	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	284	T	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	156	R	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	126	Y	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	240	S	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	242	C	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	141	C	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	182	C	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	228	D	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	176	C	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	281	D	G	Unclassified	A brain tumor with no family history
P04637	P53_HUMAN	250	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	159	A	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	215	S	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	215	S	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	278	P	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	278	P	L	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	278	P	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	59	G	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	156	R	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	392	S	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	240	S	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	254	I	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	144	Q	L	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	245	G	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	245	G	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	249	R	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	243	M	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	213	R	Q	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	155	T	M	Unclassified	A sporadic cancer
P04637	P53_HUMAN	240	S	R	Unclassified	Sporadic cancers
P04637	P53_HUMAN	156	R	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	275	C	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	323	L	R	Unclassified	A sporadic cancer
P04637	P53_HUMAN	227	S	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	159	A	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	341	F	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	225	V	G	Unclassified	A sporadic cancer
P04637	P53_HUMAN	280	R	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	232	I	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	279	G	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	113	F	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	141	C	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	277	C	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	155	T	N	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	249	R	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	245	G	L	Unclassified	Sporadic cancers
P04637	P53_HUMAN	142	P	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	278	P	S	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	242	C	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	216	V	E	Unclassified	Sporadic cancers
P04637	P53_HUMAN	232	I	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	250	P	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	175	R	H	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	303	S	N	Unclassified	Sporadic cancers
P04637	P53_HUMAN	168	H	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	273	R	H	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	141	C	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	148	D	A	Unclassified	A sporadic cancer
P04637	P53_HUMAN	275	C	Y	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	259	D	P	Unclassified	A sporadic cancer
P04637	P53_HUMAN	231	T	I	Unclassified	Sporadic cancers
P04637	P53_HUMAN	250	P	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	168	H	Q	Unclassified	Sporadic cancers
P04637	P53_HUMAN	240	S	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	138	A	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	140	T	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	169	M	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	156	R	G	Unclassified	Sporadic cancers
P04637	P53_HUMAN	225	V	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	250	P	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	142	P	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	215	S	T	Unclassified	Sporadic cancers
P04637	P53_HUMAN	72	P	L	Unclassified	A sporadic cancer
P04637	P53_HUMAN	142	P	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	232	I	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	72	P	C	Unclassified	Sporadic cancers
P04637	P53_HUMAN	72	P	H	Unclassified	Sporadic cancers
P04637	P53_HUMAN	141	C	W	Unclassified	Sporadic cancers
P04637	P53_HUMAN	155	T	S	Unclassified	Sporadic cancers
P04637	P53_HUMAN	239	N	I	Unclassified	A sporadic cancer
P04637	P53_HUMAN	249	R	K	Unclassified	Sporadic cancers
P04637	P53_HUMAN	241	S	P	Unclassified	Sporadic cancers
P04637	P53_HUMAN	168	H	Y	Unclassified	Sporadic cancers
P04637	P53_HUMAN	169	M	V	Unclassified	Sporadic cancers
P04637	P53_HUMAN	278	P	T	Disease	Li-Fraumeni syndrome (LFS) [MIM:151623]
P04637	P53_HUMAN	225	V	D	Unclassified	A sporadic cancer
P04637	P53_HUMAN	226	G	A	Unclassified	Sporadic cancers
P04637	P53_HUMAN	274	V	F	Unclassified	Sporadic cancers
P04637	P53_HUMAN	140	T	N	Unclassified	A sporadic cancer
P04637	P53_HUMAN	72	P	G	Unclassified	Sporadic cancers
P04731	MT1A_HUMAN	51	K	R	Polymorphism	-
P04731	MT1A_HUMAN	27	T	N	Polymorphism	-
P04792	HSPB1_HUMAN	188	R	W	Unclassified	Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]
P04792	HSPB1_HUMAN	141	K	Q	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	180	T	I	Unclassified	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	182	P	L	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	136	R	W	Disease	Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]
P04792	HSPB1_HUMAN	34	G	R	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	39	P	L	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	164	T	A	Disease	Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]
P04792	HSPB1_HUMAN	151	T	I	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	128	Q	R	Unclassified	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	127	R	W	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	84	G	R	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	136	R	L	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	41	E	K	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	140	R	G	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	39	P	L	Disease	Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]
P04792	HSPB1_HUMAN	190	Q	H	Unclassified	-
P04792	HSPB1_HUMAN	156	S	Y	Polymorphism	-
P04792	HSPB1_HUMAN	135	S	F	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	136	R	L	Disease	Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]
P04792	HSPB1_HUMAN	7	P	S	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	99	L	M	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	187	S	L	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792	HSPB1_HUMAN	135	S	F	Disease	Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]
P04792	HSPB1_HUMAN	53	G	D	Disease	Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04798	CP1A1_HUMAN	461	T	N	Polymorphism	-
P04798	CP1A1_HUMAN	464	R	S	Polymorphism	-
P04798	CP1A1_HUMAN	173	T	R	Polymorphism	-
P04798	CP1A1_HUMAN	279	R	W	Polymorphism	-
P04798	CP1A1_HUMAN	462	I	V	Polymorphism	-
P04798	CP1A1_HUMAN	448	I	N	Polymorphism	-
P04798	CP1A1_HUMAN	66	M	V	Polymorphism	-
P04798	CP1A1_HUMAN	286	I	T	Polymorphism	-
P04798	CP1A1_HUMAN	93	R	W	Polymorphism	-
P04798	CP1A1_HUMAN	45	G	D	Polymorphism	-
P04798	CP1A1_HUMAN	477	R	W	Polymorphism	-
P04798	CP1A1_HUMAN	78	I	T	Polymorphism	-
P04798	CP1A1_HUMAN	492	P	R	Polymorphism	-
P04798	CP1A1_HUMAN	464	R	C	Polymorphism	-
P04798	CP1A1_HUMAN	482	V	M	Polymorphism	-
P04798	CP1A1_HUMAN	470	F	V	Polymorphism	-
P04798	CP1A1_HUMAN	331	M	I	Polymorphism	-
P04808	REL1_HUMAN	28	K	M	Polymorphism	-
P04839	CY24B_HUMAN	344	S	F	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	156	A	T	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	516	W	C	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	59	C	W	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	338	H	Y	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	364	G	R	Polymorphism	-
P04839	CY24B_HUMAN	54	R	M	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	517	D	E	Polymorphism	-
P04839	CY24B_HUMAN	224	A	G	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	179	G	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	101	H	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	453	W	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	409	A	G	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	422	S	P	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	516	W	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	209	H	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	420	L	P	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	209	H	Y	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	307	T	P	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	225	E	V	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	205	F	I	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	342	L	Q	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	304	P	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	534	V	D	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	20	G	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	500	D	G	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	389	G	E	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	389	G	A	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	415	P	H	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	339	P	H	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	193	S	F	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	55	A	D	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	18	W	C	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	408	G	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	57	A	E	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	303	H	N	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	415	P	L	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	333	S	P	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	178	T	P	Disease	Immunodeficiency 34 (IMD34) [MIM:300645]
P04839	CY24B_HUMAN	222	H	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	244	C	S	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	244	C	Y	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	537	C	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	41	Y	D	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	299	K	N	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	322	G	E	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	309	E	K	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	231	Q	P	Disease	Immunodeficiency 34 (IMD34) [MIM:300645]
P04839	CY24B_HUMAN	222	H	N	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	54	R	S	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	338	H	D	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	119	H	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	356	R	P	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	325	I	F	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	59	C	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	505	L	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	222	H	Y	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	546	L	P	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	412	G	E	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	408	G	E	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	472	G	S	Polymorphism	-
P04839	CY24B_HUMAN	405	M	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	209	H	Q	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	223	G	L	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	244	C	R	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	488	A	D	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	500	D	E	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04839	CY24B_HUMAN	101	H	Y	Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]
P04844	RPN2_HUMAN	597	L	F	Polymorphism	-
P04920	B3A2_HUMAN	26	G	E	Polymorphism	-
P04920	B3A2_HUMAN	311	R	W	Polymorphism	-
P04920	B3A2_HUMAN	202	E	V	Polymorphism	-
P04920	B3A2_HUMAN	1204	L	F	Polymorphism	-
P04921	GLPC_HUMAN	23	A	S	Polymorphism	-
P04921	GLPC_HUMAN	8	N	S	Polymorphism	-
P04921	GLPC_HUMAN	14	L	F	Polymorphism	-
P04921	GLPC_HUMAN	124	K	E	Polymorphism	-
P05000	IFNW1_HUMAN	95	R	S	Polymorphism	-
P05014	IFNA4_HUMAN	137	E	V	Polymorphism	-
P05014	IFNA4_HUMAN	49	H	P	Polymorphism	-
P05014	IFNA4_HUMAN	74	A	T	Polymorphism	-
P05019	IGF1_HUMAN	98	R	W	Unclassified	-
P05019	IGF1_HUMAN	187	A	D	Polymorphism	-
P05019	IGF1_HUMAN	115	A	T	Polymorphism	-
P05023	AT1A1_HUMAN	592	I	T	Unclassified	Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036]
P05023	AT1A1_HUMAN	597	A	T	Unclassified	Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036]
P05023	AT1A1_HUMAN	303	G	R	Disease	Hypomagnesemia, seizures, and mental retardation 2 (HOMGSMR2) [MIM:618314]
P05023	AT1A1_HUMAN	859	M	R	Disease	Hypomagnesemia, seizures, and mental retardation 2 (HOMGSMR2) [MIM:618314]
P05023	AT1A1_HUMAN	600	P	T	Unclassified	Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036]
P05023	AT1A1_HUMAN	811	D	A	Disease	Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036]
P05023	AT1A1_HUMAN	47	S	I	Polymorphism	-
P05023	AT1A1_HUMAN	600	P	A	Disease	Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036]
P05023	AT1A1_HUMAN	601	D	F	Unclassified	Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036]
P05023	AT1A1_HUMAN	48	L	R	Disease	Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036]
P05023	AT1A1_HUMAN	302	L	R	Disease	Hypomagnesemia, seizures, and mental retardation 2 (HOMGSMR2) [MIM:618314]
P05060	SCG1_HUMAN	232	R	Q	Polymorphism	-
P05060	SCG1_HUMAN	243	T	A	Polymorphism	-
P05060	SCG1_HUMAN	117	K	N	Polymorphism	-
P05060	SCG1_HUMAN	413	P	L	Polymorphism	-
P05060	SCG1_HUMAN	353	A	G	Polymorphism	-
P05060	SCG1_HUMAN	93	S	T	Polymorphism	-
P05060	SCG1_HUMAN	417	R	H	Polymorphism	-
P05060	SCG1_HUMAN	145	D	N	Polymorphism	-
P05060	SCG1_HUMAN	178	R	Q	Polymorphism	-
P05060	SCG1_HUMAN	200	N	H	Polymorphism	-
P05062	ALDOB_HUMAN	150	A	P	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	175	A	D	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	335	N	K	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	134	R	S	Polymorphism	-
P05062	ALDOB_HUMAN	343	Y	H	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	135	C	R	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	304	R	W	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	178	C	R	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	284	L	P	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	222	V	F	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	257	L	P	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	148	W	R	Polymorphism	-
P05062	ALDOB_HUMAN	74	I	T	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	229	L	P	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	338	A	V	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	207	E	Q	Polymorphism	-
P05062	ALDOB_HUMAN	46	R	W	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	304	R	Q	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	185	P	R	Disease	Hereditary fructose intolerance (HFI) [MIM:229600]
P05062	ALDOB_HUMAN	268	I	N	Polymorphism	-
P05067	A4_HUMAN	705	L	V	Disease	Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714]
P05067	A4_HUMAN	692	A	G	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	717	V	G	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	693	E	Q	Disease	Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714]
P05067	A4_HUMAN	714	T	A	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	665	E	D	Polymorphism	-
P05067	A4_HUMAN	678	D	N	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	694	D	N	Disease	Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714]
P05067	A4_HUMAN	693	E	G	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	714	T	I	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	723	L	P	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	713	A	V	Unclassified	-
P05067	A4_HUMAN	717	V	F	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	715	V	M	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	717	V	L	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	717	V	I	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	501	E	K	Polymorphism	-
P05067	A4_HUMAN	693	E	K	Disease	Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714]
P05067	A4_HUMAN	716	I	V	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05067	A4_HUMAN	713	A	T	Disease	Alzheimer disease 1 (AD1) [MIM:104300]
P05089	ARGI1_HUMAN	138	G	V	Disease	Argininemia (ARGIN) [MIM:207800]
P05089	ARGI1_HUMAN	235	G	R	Disease	Argininemia (ARGIN) [MIM:207800]
P05089	ARGI1_HUMAN	11	I	T	Disease	Argininemia (ARGIN) [MIM:207800]
P05089	ARGI1_HUMAN	125	A	V	Disease	Argininemia (ARGIN) [MIM:207800]
P05089	ARGI1_HUMAN	134	T	I	Disease	Argininemia (ARGIN) [MIM:207800]
P05089	ARGI1_HUMAN	27	G	D	Disease	Argininemia (ARGIN) [MIM:207800]
P05089	ARGI1_HUMAN	290	T	S	Polymorphism	-
P05089	ARGI1_HUMAN	74	G	V	Disease	Argininemia (ARGIN) [MIM:207800]
P05089	ARGI1_HUMAN	180	R	T	Disease	Argininemia (ARGIN) [MIM:207800]
P05089	ARGI1_HUMAN	308	R	Q	Disease	Argininemia (ARGIN) [MIM:207800]
P05090	APOD_HUMAN	178	T	K	Polymorphism	-
P05090	APOD_HUMAN	115	S	L	Polymorphism	-
P05090	APOD_HUMAN	15	F	S	Polymorphism	-
P05091	ALDH2_HUMAN	504	E	K	Polymorphism	-
P05091	ALDH2_HUMAN	496	E	K	Polymorphism	-
P05091	ALDH2_HUMAN	337	E	V	Polymorphism	-
P05093	CP17A_HUMAN	358	R	Q	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	93	F	C	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	406	W	R	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	417	F	C	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	64	Y	S	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	106	S	P	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	496	R	H	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	428	P	L	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	329	Y	D	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	347	R	C	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	342	P	T	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	114	F	V	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	22	C	W	Polymorphism	-
P05093	CP17A_HUMAN	496	R	C	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	373	H	L	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	35	P	L	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	96	R	Q	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	362	R	C	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	177	N	D	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	406	W	L	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	121	W	R	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	96	R	W	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	116	D	V	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	373	H	N	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	347	R	H	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	174	A	E	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05093	CP17A_HUMAN	440	R	H	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
P05106	ITB3_HUMAN	586	C	R	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	119	R	W	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	166	T	I	Polymorphism	-
P05106	ITB3_HUMAN	150	M	V	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	568	C	R	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	242	R	Q	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	586	C	F	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	288	L	P	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	222	L	P	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	243	D	V	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	778	S	P	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	247	G	D	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	605	G	S	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	598	G	S	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	64	C	Y	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	145	D	N	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	188	S	L	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	515	R	Q	Polymorphism	-
P05106	ITB3_HUMAN	453	V	I	Polymorphism	-
P05106	ITB3_HUMAN	400	C	Y	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	143	L	W	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	749	D	H	Disease	Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800]
P05106	ITB3_HUMAN	66	L	R	Polymorphism	-
P05106	ITB3_HUMAN	59	L	P	Polymorphism	-
P05106	ITB3_HUMAN	169	R	Q	Polymorphism	-
P05106	ITB3_HUMAN	330	I	N	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	321	M	L	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	141	Y	C	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	144	M	R	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	240	R	Q	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	532	C	Y	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	601	C	R	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	662	R	C	Polymorphism	-
P05106	ITB3_HUMAN	306	H	P	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	240	R	W	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	279	K	M	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	145	D	Y	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P05106	ITB3_HUMAN	433	P	A	Polymorphism	-
P05107	ITB2_HUMAN	149	L	P	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	169	G	R	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	351	N	S	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	354	Q	H	Polymorphism	-
P05107	ITB2_HUMAN	586	R	W	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	138	S	P	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	716	G	A	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	128	D	Y	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	196	K	T	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	300	D	V	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	284	G	S	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	178	P	L	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	593	R	C	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	239	A	T	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	273	G	R	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107	ITB2_HUMAN	128	D	N	Disease	Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05108	CP11A_HUMAN	314	E	K	Polymorphism	-
P05108	CP11A_HUMAN	359	A	V	Disease	Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
P05108	CP11A_HUMAN	141	L	W	Disease	Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
P05108	CP11A_HUMAN	415	V	E	Disease	Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
P05108	CP11A_HUMAN	353	R	W	Disease	Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
P05108	CP11A_HUMAN	189	A	V	Disease	Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
P05108	CP11A_HUMAN	222	L	P	Disease	Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
P05111	INHA_HUMAN	227	G	R	Polymorphism	-
P05111	INHA_HUMAN	60	R	L	Unclassified	-
P05111	INHA_HUMAN	257	A	T	Polymorphism	-
P05112	IL4_HUMAN	27	C	R	Polymorphism	-
P05120	PAI2_HUMAN	404	N	K	Polymorphism	-
P05120	PAI2_HUMAN	374	G	A	Polymorphism	-
P05120	PAI2_HUMAN	229	R	H	Polymorphism	-
P05120	PAI2_HUMAN	120	N	D	Polymorphism	-
P05120	PAI2_HUMAN	413	S	C	Polymorphism	-
P05121	PAI1_HUMAN	15	A	T	Polymorphism	-
P05121	PAI1_HUMAN	255	T	N	Polymorphism	-
P05121	PAI1_HUMAN	17	V	I	Polymorphism	-
P05121	PAI1_HUMAN	25	H	P	Polymorphism	-
P05121	PAI1_HUMAN	209	R	H	Polymorphism	-
P05129	KPCG_HUMAN	128	G	D	Disease	Spinocerebellar ataxia 14 (SCA14) [MIM:605361]
P05129	KPCG_HUMAN	101	H	Y	Disease	Spinocerebellar ataxia 14 (SCA14) [MIM:605361]
P05129	KPCG_HUMAN	63	G	R	Disease	Spinocerebellar ataxia 14 (SCA14) [MIM:605361]
P05129	KPCG_HUMAN	659	R	S	Polymorphism	-
P05129	KPCG_HUMAN	63	G	V	Disease	Spinocerebellar ataxia 14 (SCA14) [MIM:605361]
P05129	KPCG_HUMAN	141	R	C	Polymorphism	-
P05129	KPCG_HUMAN	415	H	Q	Polymorphism	-
P05129	KPCG_HUMAN	523	A	D	Polymorphism	-
P05129	KPCG_HUMAN	119	S	P	Disease	Spinocerebellar ataxia 14 (SCA14) [MIM:605361]
P05141	ADT2_HUMAN	111	L	R	Polymorphism	-
P05154	IPSP_HUMAN	64	S	N	Polymorphism	-
P05154	IPSP_HUMAN	121	P	A	Polymorphism	-
P05154	IPSP_HUMAN	94	G	V	Polymorphism	-
P05154	IPSP_HUMAN	217	G	R	Polymorphism	-
P05154	IPSP_HUMAN	105	K	E	Polymorphism	-
P05154	IPSP_HUMAN	55	A	V	Polymorphism	-
P05154	IPSP_HUMAN	115	L	P	Polymorphism	-
P05154	IPSP_HUMAN	44	S	G	Polymorphism	-
P05155	IC1_HUMAN	466	R	H	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	456	A	E	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	473	V	M	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	466	R	L	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	466	R	C	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	465	A	V	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	458	A	V	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	39	D	E	Polymorphism	-
P05155	IC1_HUMAN	118	T	A	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	170	S	F	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	274	I	V	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	477	F	S	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	466	R	S	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	474	Q	E	Polymorphism	-
P05155	IC1_HUMAN	11	L	R	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	154	Y	C	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	481	L	P	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	458	A	T	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	429	G	R	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	299	W	R	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	56	V	A	Polymorphism	-
P05155	IC1_HUMAN	489	P	R	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	473	V	E	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	493	G	E	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	308	T	S	Polymorphism	-
P05155	IC1_HUMAN	467	T	P	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	498	P	S	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	265	W	R	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	408	D	V	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	394	T	P	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	130	C	Y	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	481	L	R	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	498	P	R	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	345	G	R	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	480	V	M	Polymorphism	-
P05155	IC1_HUMAN	454	V	E	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	430	L	Q	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	493	G	R	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	230	L	P	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	441	M	T	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	473	V	G	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	497	D	G	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	447	L	P	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	184	G	R	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05155	IC1_HUMAN	232	I	K	Disease	Hereditary angioedema (HAE) [MIM:106100]
P05156	CFAI_HUMAN	188	G	A	Polymorphism	-
P05156	CFAI_HUMAN	64	P	L	Disease	Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
P05156	CFAI_HUMAN	300	T	A	Polymorphism	-
P05156	CFAI_HUMAN	522	K	T	Disease	Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
P05156	CFAI_HUMAN	119	G	R	Disease	Macular degeneration, age-related, 13 (ARMD13) [MIM:615439]
P05156	CFAI_HUMAN	243	G	D	Disease	Complement factor I deficiency (CFI deficiency) [MIM:610984]
P05156	CFAI_HUMAN	416	I	L	Disease	Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
P05156	CFAI_HUMAN	524	D	V	Disease	Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
P05156	CFAI_HUMAN	183	H	R	Disease	Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
P05156	CFAI_HUMAN	519	D	N	Disease	Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
P05156	CFAI_HUMAN	340	I	T	Disease	Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
P05156	CFAI_HUMAN	119	G	R	Disease	Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
P05156	CFAI_HUMAN	317	R	W	Disease	Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
P05156	CFAI_HUMAN	287	G	R	Disease	Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
P05156	CFAI_HUMAN	418	H	L	Disease	Complement factor I deficiency (CFI deficiency) [MIM:610984]
P05160	F13B_HUMAN	388	E	V	Polymorphism	-
P05160	F13B_HUMAN	336	C	F	Disease	Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
P05160	F13B_HUMAN	237	V	I	Unclassified	Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
P05160	F13B_HUMAN	115	R	H	Polymorphism	-
P05160	F13B_HUMAN	342	I	T	Polymorphism	-
P05160	F13B_HUMAN	49	M	V	Polymorphism	-
P05160	F13B_HUMAN	450	C	F	Disease	Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
P05160	F13B_HUMAN	101	I	N	Disease	Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
P05160	F13B_HUMAN	569	D	E	Polymorphism	-
P05160	F13B_HUMAN	448	P	S	Disease	Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
P05160	F13B_HUMAN	350	H	R	Polymorphism	-
P05160	F13B_HUMAN	543	Y	S	Polymorphism	-
P05160	F13B_HUMAN	136	L	F	Unclassified	Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
P05160	F13B_HUMAN	25	C	R	Disease	Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
P05160	F13B_HUMAN	421	V	E	Disease	Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
P05160	F13B_HUMAN	529	L	P	Polymorphism	-
P05161	ISG15_HUMAN	83	S	N	Polymorphism	-
P05162	LEG2_HUMAN	119	V	I	Polymorphism	-
P05162	LEG2_HUMAN	132	E	Q	Unclassified	A breast cancer sample
P05164	PERM_HUMAN	717	I	V	Polymorphism	-
P05164	PERM_HUMAN	173	Y	C	Disease	Myeloperoxidase deficiency (MPOD) [MIM:254600]
P05164	PERM_HUMAN	251	M	T	Disease	Myeloperoxidase deficiency (MPOD) [MIM:254600]
P05164	PERM_HUMAN	569	R	W	Disease	Myeloperoxidase deficiency (MPOD) [MIM:254600]
P05164	PERM_HUMAN	604	R	C	Polymorphism	-
P05164	PERM_HUMAN	53	V	F	Polymorphism	-
P05164	PERM_HUMAN	683	E	Q	Polymorphism	-
P05164	PERM_HUMAN	447	R	Q	Unclassified	A colorectal cancer sample
P05165	PCCA_HUMAN	399	R	Q	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	423	P	L	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	475	I	V	Polymorphism	-
P05165	PCCA_HUMAN	373	M	K	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	379	G	V	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	229	M	K	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	75	A	P	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	668	G	R	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	631	G	R	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	551	V	F	Polymorphism	-
P05165	PCCA_HUMAN	197	G	E	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	559	W	L	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	77	R	W	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	398	C	R	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	138	A	T	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	164	I	T	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	368	D	G	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05165	PCCA_HUMAN	297	Q	R	Disease	Propionic acidemia type I (PA-1) [MIM:606054]
P05166	PCCB_HUMAN	246	G	V	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	165	R	Q	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	228	P	L	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	153	A	P	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	519	L	P	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	536	N	D	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	428	T	I	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	198	G	D	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	468	A	T	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	287	P	S	Polymorphism	-
P05166	PCCB_HUMAN	44	R	P	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	112	G	D	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	512	R	C	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	67	R	S	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	188	G	R	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	439	Y	C	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	497	A	V	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	165	R	W	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	442	M	T	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	131	G	R	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	430	I	L	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	205	V	D	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	410	R	W	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	168	E	K	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	107	V	M	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	17	L	M	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	106	S	R	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05166	PCCB_HUMAN	435	Y	C	Disease	Propionic acidemia type II (PA-2) [MIM:606054]
P05177	CP1A2_HUMAN	168	E	Q	Polymorphism	-
P05177	CP1A2_HUMAN	83	T	M	Polymorphism	-
P05177	CP1A2_HUMAN	186	F	L	Polymorphism	-
P05177	CP1A2_HUMAN	298	S	R	Polymorphism	-
P05177	CP1A2_HUMAN	205	F	V	Polymorphism	-
P05177	CP1A2_HUMAN	299	G	S	Polymorphism	-
P05177	CP1A2_HUMAN	21	F	L	Polymorphism	-
P05177	CP1A2_HUMAN	386	I	F	Polymorphism	-
P05177	CP1A2_HUMAN	18	S	C	Polymorphism	-
P05177	CP1A2_HUMAN	438	T	I	Polymorphism	-
P05177	CP1A2_HUMAN	42	P	R	Polymorphism	-
P05177	CP1A2_HUMAN	377	R	Q	Polymorphism	-
P05177	CP1A2_HUMAN	457	R	W	Polymorphism	-
P05177	CP1A2_HUMAN	212	S	C	Polymorphism	-
P05177	CP1A2_HUMAN	314	I	V	Polymorphism	-
P05177	CP1A2_HUMAN	431	R	W	Polymorphism	-
P05177	CP1A2_HUMAN	281	R	W	Polymorphism	-
P05177	CP1A2_HUMAN	348	D	N	Polymorphism	-
P05177	CP1A2_HUMAN	111	L	F	Polymorphism	-
P05177	CP1A2_HUMAN	456	R	H	Polymorphism	-
P05177	CP1A2_HUMAN	406	C	Y	Polymorphism	-
P05177	CP1A2_HUMAN	104	D	N	Polymorphism	-
P05177	CP1A2_HUMAN	73	G	R	Polymorphism	-
P05181	CP2E1_HUMAN	366	S	C	Polymorphism	-
P05181	CP2E1_HUMAN	389	V	I	Polymorphism	-
P05181	CP2E1_HUMAN	179	V	I	Polymorphism	-
P05181	CP2E1_HUMAN	219	N	D	Polymorphism	-
P05181	CP2E1_HUMAN	457	H	L	Polymorphism	-
P05181	CP2E1_HUMAN	76	R	H	Polymorphism	-
P05186	PPBT_HUMAN	391	R	C	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	235	E	G	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	327	F	G	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	291	E	K	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	71	R	H	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	220	G	V	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	326	G	R	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	490	I	F	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	212	I	F	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	249	G	V	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	294	D	A	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	399	A	S	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	223	R	W	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	191	E	K	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	171	H	R	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	207	Q	P	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	381	H	R	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	306	D	V	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	289	L	F	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	181	S	L	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	423	V	A	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	382	V	I	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	445	S	P	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	116	A	T	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	33	A	V	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	177	A	T	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	63	G	V	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	220	G	A	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	473	G	S	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	459	V	M	Disease	Hypophosphatasia infantile type (HOPSI) [MIM:241500]
P05186	PPBT_HUMAN	436	Y	H	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	294	D	Y	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	189	D	E	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	51	A	V	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	170	N	D	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	75	G	S	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	201	C	Y	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	450	R	C	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	417	N	S	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	522	V	A	Polymorphism	-
P05186	PPBT_HUMAN	134	T	N	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	339	G	R	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	184	R	W	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	211	N	D	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	476	E	A	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	134	T	H	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	297	Y	D	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	71	R	P	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	177	A	T	Disease	Hypophosphatasia childhood type (HOPSC) [MIM:241510]
P05186	PPBT_HUMAN	132	A	V	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	272	R	H	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	71	R	S	Disease	Hypophosphatasia childhood type (HOPSC) [MIM:241510]
P05186	PPBT_HUMAN	246	R	S	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	491	G	R	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	311	E	K	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	223	R	W	Disease	Hypophosphatasia childhood type (HOPSC) [MIM:241510]
P05186	PPBT_HUMAN	263	Y	H	Polymorphism	-
P05186	PPBT_HUMAN	391	R	H	Disease	Hypophosphatasia childhood type (HOPSC) [MIM:241510]
P05186	PPBT_HUMAN	162	G	V	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	71	R	C	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	354	E	D	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	171	H	Y	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	129	G	R	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	456	G	R	Disease	Hypophosphatasia infantile type (HOPSI) [MIM:241500]
P05186	PPBT_HUMAN	327	F	L	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	51	A	S	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	63	G	R	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	334	G	D	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	420	G	A	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	162	G	S	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	111	A	T	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	120	G	R	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	452	E	K	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	191	E	G	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	108	P	L	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	299	L	P	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	406	D	G	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	275	L	P	Disease	Hypophosphatasia childhood type (HOPSC) [MIM:241510]
P05186	PPBT_HUMAN	391	R	H	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	378	D	V	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	62	M	V	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	476	E	K	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	468	A	T	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	411	T	A	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	414	L	M	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	136	R	H	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	176	A	T	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	426	G	D	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	327	F	L	Disease	Hypophosphatasia infantile type (HOPSI) [MIM:241500]
P05186	PPBT_HUMAN	223	R	Q	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	76	Q	R	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	272	R	L	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	148	T	I	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	179	A	T	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	459	V	L	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	348	A	T	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	478	N	I	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	114	A	G	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	292	P	T	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	334	G	R	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	28	Y	C	Disease	Hypophosphatasia infantile type (HOPSI) [MIM:241500]
P05186	PPBT_HUMAN	295	M	T	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	420	G	S	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	62	M	L	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	17	S	F	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	426	G	C	Disease	Hypophosphatasia infantile type (HOPSI) [MIM:241500]
P05186	PPBT_HUMAN	224	K	E	Disease	Hypophosphatasia infantile type (HOPSI) [MIM:241500]
P05186	PPBT_HUMAN	128	V	M	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	68	T	M	Disease	Hypophosphatasia childhood type (HOPSC) [MIM:241510]
P05186	PPBT_HUMAN	298	E	K	Disease	Hypophosphatasia infantile type (HOPSI) [MIM:241500]
P05186	PPBT_HUMAN	152	R	H	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	489	C	S	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	40	A	V	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05186	PPBT_HUMAN	450	R	H	Disease	Hypophosphatasia (HOPS) [MIM:146300]
P05187	PPB1_HUMAN	263	R	H	Polymorphism	-
P05187	PPB1_HUMAN	231	R	P	Polymorphism	-
P05187	PPB1_HUMAN	451	E	G	Polymorphism	-
P05187	PPB1_HUMAN	25	P	L	Polymorphism	-
P05187	PPB1_HUMAN	89	I	L	Polymorphism	-
P05204	HMGN2_HUMAN	7	E	K	Unclassified	-
P05230	FGF1_HUMAN	21	G	E	Polymorphism	-
P05231	IL6_HUMAN	32	P	S	Polymorphism	-
P05231	IL6_HUMAN	162	D	V	Polymorphism	-
P05231	IL6_HUMAN	162	D	E	Polymorphism	-
P05305	EDN1_HUMAN	64	V	D	Disease	Question mark ears, isolated (QME) [MIM:612798]
P05305	EDN1_HUMAN	198	K	N	Polymorphism	-
P05305	EDN1_HUMAN	91	K	E	Disease	Auriculocondylar syndrome 3 (ARCND3) [MIM:615706]
P05305	EDN1_HUMAN	186	V	I	Polymorphism	-
P05305	EDN1_HUMAN	77	P	H	Disease	Auriculocondylar syndrome 3 (ARCND3) [MIM:615706]
P05362	ICAM1_HUMAN	241	G	R	Polymorphism	-
P05362	ICAM1_HUMAN	352	P	L	Polymorphism	-
P05362	ICAM1_HUMAN	397	R	Q	Polymorphism	-
P05362	ICAM1_HUMAN	56	K	M	Polymorphism	-
P05362	ICAM1_HUMAN	315	V	M	Polymorphism	-
P05362	ICAM1_HUMAN	469	K	E	Polymorphism	-
P05362	ICAM1_HUMAN	34	S	C	Polymorphism	-
P05362	ICAM1_HUMAN	155	K	N	Polymorphism	-
P05362	ICAM1_HUMAN	478	R	W	Polymorphism	-
P05412	JUN_HUMAN	297	T	M	Polymorphism	-
P05413	FABPH_HUMAN	53	K	R	Polymorphism	-
P05452	TETN_HUMAN	58	V	M	Polymorphism	-
P05452	TETN_HUMAN	106	G	S	Polymorphism	-
P05452	TETN_HUMAN	55	A	S	Polymorphism	-
P05534	1A24_HUMAN	89	G	R	Polymorphism	-
P05534	1A24_HUMAN	121	M	R	Polymorphism	-
P05534	1A24_HUMAN	27	H	Q	Polymorphism	-
P05534	1A24_HUMAN	187	T	R	Polymorphism	-
P05534	1A24_HUMAN	86	E	G	Polymorphism	-
P05534	1A24_HUMAN	206	T	A	Polymorphism	-
P05534	1A24_HUMAN	180	Q	L	Polymorphism	-
P05534	1A24_HUMAN	119	L	V	Polymorphism	-
P05534	1A24_HUMAN	131	G	W	Polymorphism	-
P05534	1A24_HUMAN	5	A	G	Polymorphism	-
P05534	1A24_HUMAN	123	F	Y	Polymorphism	-
P05534	1A24_HUMAN	205	R	H	Polymorphism	-
P05534	1A24_HUMAN	180	Q	W	Polymorphism	-
P05538	DQB2_HUMAN	232	S	G	Polymorphism	-
P05538	DQB2_HUMAN	234	I	V	Polymorphism	-
P05538	DQB2_HUMAN	161	R	Q	Polymorphism	-
P05543	THBG_HUMAN	43	S	T	Polymorphism	-
P05543	THBG_HUMAN	303	L	F	Polymorphism	-
P05543	THBG_HUMAN	191	D	N	Polymorphism	-
P05543	THBG_HUMAN	383	P	L	Polymorphism	-
P05543	THBG_HUMAN	351	H	Y	Polymorphism	-
P05543	THBG_HUMAN	116	I	N	Polymorphism	-
P05543	THBG_HUMAN	133	A	P	Polymorphism	-
P05543	THBG_HUMAN	211	A	T	Polymorphism	-
P05543	THBG_HUMAN	247	L	P	Polymorphism	-
P05546	HEP2_HUMAN	87	S	N	Polymorphism	-
P05546	HEP2_HUMAN	442	T	M	Polymorphism	-
P05546	HEP2_HUMAN	208	R	H	Disease	Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]
P05546	HEP2_HUMAN	237	K	R	Polymorphism	-
P05546	HEP2_HUMAN	129	L	V	Polymorphism	-
P05546	HEP2_HUMAN	447	E	K	Disease	Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]
P05546	HEP2_HUMAN	60	H	P	Polymorphism	-
P05546	HEP2_HUMAN	462	P	L	Disease	Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]
P05546	HEP2_HUMAN	7	A	T	Polymorphism	-
P05549	AP2A_HUMAN	262	G	E	Disease	Branchiooculofacial syndrome (BOFS) [MIM:113620]
P05549	AP2A_HUMAN	249	L	P	Disease	Branchiooculofacial syndrome (BOFS) [MIM:113620]
P05549	AP2A_HUMAN	255	R	G	Disease	Branchiooculofacial syndrome (BOFS) [MIM:113620]
P05549	AP2A_HUMAN	254	R	G	Disease	Branchiooculofacial syndrome (BOFS) [MIM:113620]
P05771	KPCB_HUMAN	588	P	H	Polymorphism	-
P05771	KPCB_HUMAN	144	V	M	Unclassified	A colorectal adenocarcinoma sample
P05771	KPCB_HUMAN	496	V	M	Unclassified	A glioblastoma multiforme sample
P05783	K1C18_HUMAN	340	G	R	Disease	Cirrhosis (CIRRH) [MIM:215600]
P05783	K1C18_HUMAN	128	H	L	Disease	Cirrhosis (CIRRH) [MIM:215600]
P05783	K1C18_HUMAN	261	R	Q	Disease	Cirrhosis (CIRRH) [MIM:215600]
P05783	K1C18_HUMAN	230	S	T	Polymorphism	-
P05783	K1C18_HUMAN	103	T	A	Disease	Cirrhosis (CIRRH) [MIM:215600]
P05787	K2C8_HUMAN	63	I	V	Polymorphism	-
P05787	K2C8_HUMAN	401	R	W	Polymorphism	-
P05787	K2C8_HUMAN	429	G	D	Polymorphism	-
P05787	K2C8_HUMAN	54	Y	C	Disease	Cirrhosis (CIRRH) [MIM:215600]
P05787	K2C8_HUMAN	417	S	G	Polymorphism	-
P05787	K2C8_HUMAN	62	G	C	Disease	Cirrhosis (CIRRH) [MIM:215600]
P05787	K2C8_HUMAN	53	G	V	Disease	Cirrhosis (CIRRH) [MIM:215600]
P05997	CO5A2_HUMAN	1230	T	S	Polymorphism	-
P05997	CO5A2_HUMAN	1432	D	V	Polymorphism	-
P05997	CO5A2_HUMAN	512	V	A	Polymorphism	-
P05997	CO5A2_HUMAN	956	R	P	Polymorphism	-
P05997	CO5A2_HUMAN	833	P	L	Polymorphism	-
P05997	CO5A2_HUMAN	228	G	R	Disease	Ehlers-Danlos syndrome, classic type, 2 (EDSCL2) [MIM:130010]
P05997	CO5A2_HUMAN	963	G	R	Disease	Ehlers-Danlos syndrome, classic type, 2 (EDSCL2) [MIM:130010]
P05997	CO5A2_HUMAN	460	P	S	Polymorphism	-
P06028	GLPB_HUMAN	22	T	S	Polymorphism	-
P06028	GLPB_HUMAN	48	T	M	Polymorphism	-
P06028	GLPB_HUMAN	84	S	T	Polymorphism	-
P06028	GLPB_HUMAN	54	R	H	Polymorphism	-
P06028	GLPB_HUMAN	58	P	R	Polymorphism	-
P06126	CD1A_HUMAN	30	T	I	Polymorphism	-
P06126	CD1A_HUMAN	68	C	W	Polymorphism	-
P06126	CD1A_HUMAN	22	K	N	Polymorphism	-
P06127	CD5_HUMAN	224	P	L	Polymorphism	-
P06127	CD5_HUMAN	471	A	V	Polymorphism	-
P06127	CD5_HUMAN	461	H	R	Polymorphism	-
P06132	DCUP_HUMAN	303	G	V	Polymorphism	-
P06132	DCUP_HUMAN	165	M	R	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	80	A	G	Disease	Hepatoerythropoietic porphyria (HEP) [MIM:176100]
P06132	DCUP_HUMAN	195	L	F	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	144	R	P	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	281	G	E	Disease	Hepatoerythropoietic porphyria (HEP) [MIM:176100]
P06132	DCUP_HUMAN	15	K	E	Polymorphism	-
P06132	DCUP_HUMAN	167	E	K	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	281	G	E	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	161	L	Q	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	170	G	D	Disease	Hepatoerythropoietic porphyria (HEP) [MIM:176100]
P06132	DCUP_HUMAN	260	I	T	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	318	G	R	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	142	R	Q	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	46	F	L	Disease	Hepatoerythropoietic porphyria (HEP) [MIM:176100]
P06132	DCUP_HUMAN	113	R	T	Polymorphism	-
P06132	DCUP_HUMAN	167	E	K	Disease	Hepatoerythropoietic porphyria (HEP) [MIM:176100]
P06132	DCUP_HUMAN	281	G	V	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	282	L	R	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	229	F	L	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	292	R	G	Disease	Hepatoerythropoietic porphyria (HEP) [MIM:176100]
P06132	DCUP_HUMAN	304	N	K	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	62	P	L	Disease	Hepatoerythropoietic porphyria (HEP) [MIM:176100]
P06132	DCUP_HUMAN	80	A	S	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	77	P	L	Polymorphism	-
P06132	DCUP_HUMAN	218	E	K	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	156	G	D	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	106	P	L	Polymorphism	-
P06132	DCUP_HUMAN	332	R	H	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	334	I	T	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	253	L	Q	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	303	G	S	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	232	F	L	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	216	L	Q	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	168	G	R	Disease	Hepatoerythropoietic porphyria (HEP) [MIM:176100]
P06132	DCUP_HUMAN	134	V	Q	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	324	M	T	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	220	H	P	Disease	Hepatoerythropoietic porphyria (HEP) [MIM:176100]
P06132	DCUP_HUMAN	193	R	P	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	219	S	F	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	134	V	Q	Disease	Hepatoerythropoietic porphyria (HEP) [MIM:176100]
P06132	DCUP_HUMAN	25	G	E	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	235	P	S	Disease	Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P06132	DCUP_HUMAN	311	Y	C	Disease	Hepatoerythropoietic porphyria (HEP) [MIM:176100]
P06133	UD2B4_HUMAN	40	K	N	Polymorphism	-
P06133	UD2B4_HUMAN	80	S	P	Polymorphism	-
P06133	UD2B4_HUMAN	511	C	R	Polymorphism	-
P06133	UD2B4_HUMAN	458	D	E	Polymorphism	-
P06133	UD2B4_HUMAN	396	F	L	Polymorphism	-
P06133	UD2B4_HUMAN	78	P	T	Polymorphism	-
P06133	UD2B4_HUMAN	109	F	L	Polymorphism	-
P06133	UD2B4_HUMAN	277	V	I	Polymorphism	-
P06213	INSR_HUMAN	926	R	W	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	1023	I	F	Polymorphism	-
P06213	INSR_HUMAN	1201	R	Q	Disease	Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968]
P06213	INSR_HUMAN	830	P	L	Polymorphism	-
P06213	INSR_HUMAN	1158	R	Q	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P06213	INSR_HUMAN	171	Y	H	Polymorphism	-
P06213	INSR_HUMAN	120	L	Q	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	2	A	G	Polymorphism	-
P06213	INSR_HUMAN	1206	E	D	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	635	S	L	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	997	P	T	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	1055	A	V	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	1158	R	W	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	1201	R	W	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	286	C	Y	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	228	C	R	Unclassified	A gastric adenocarcinoma sample
P06213	INSR_HUMAN	659	W	R	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	350	S	L	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	56	I	T	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	386	G	S	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	1143	I	T	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	1282	T	A	Polymorphism	-
P06213	INSR_HUMAN	937	T	M	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	657	V	F	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	1220	W	L	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	236	H	R	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	146	I	M	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	487	K	E	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	119	A	V	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	1378	R	Q	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	42	N	K	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	350	S	L	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	458	N	D	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	874	P	L	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	1201	R	W	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	1361	Y	C	Polymorphism	-
P06213	INSR_HUMAN	1054	V	M	Unclassified	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	55	V	A	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	220	P	L	Polymorphism	-
P06213	INSR_HUMAN	878	N	S	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	113	R	P	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	58	G	R	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	1206	E	K	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	409	F	V	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	1201	R	Q	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	1095	K	E	Polymorphism	-
P06213	INSR_HUMAN	1065	L	V	Polymorphism	-
P06213	INSR_HUMAN	279	R	H	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	1227	W	S	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	236	H	R	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	835	S	I	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	279	R	C	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	489	N	S	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	1162	A	E	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	1035	G	V	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	762	R	S	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	1012	V	M	Polymorphism	-
P06213	INSR_HUMAN	695	Q	R	Polymorphism	-
P06213	INSR_HUMAN	811	G	S	Polymorphism	-
P06213	INSR_HUMAN	1205	P	L	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	448	I	T	Polymorphism	-
P06213	INSR_HUMAN	1075	A	D	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	818	Y	C	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	1020	R	Q	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	439	W	S	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	86	D	G	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	393	G	R	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	1180	M	I	Polymorphism	-
P06213	INSR_HUMAN	489	N	D	Unclassified	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	1119	R	W	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	842	A	V	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	1161	A	T	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	1191	R	Q	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P06213	INSR_HUMAN	89	L	P	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	260	L	P	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	492	Q	K	Polymorphism	-
P06213	INSR_HUMAN	858	T	A	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P06213	INSR_HUMAN	167	V	L	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213	INSR_HUMAN	301	C	Y	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	256	R	C	Disease	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213	INSR_HUMAN	925	I	T	Disease	Leprechaunism (LEPRCH) [MIM:246200]
P06213	INSR_HUMAN	280	C	Y	Disease	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06239	LCK_HUMAN	28	V	L	Unclassified	-
P06239	LCK_HUMAN	353	A	V	Unclassified	-
P06239	LCK_HUMAN	201	G	S	Polymorphism	-
P06239	LCK_HUMAN	447	P	L	Unclassified	-
P06239	LCK_HUMAN	341	L	P	Disease	Immunodeficiency 22 (IMD22) [MIM:615758]
P06241	FYN_HUMAN	410	G	R	Unclassified	A metastatic melanoma sample
P06241	FYN_HUMAN	243	V	L	Unclassified	A lung squamous cell carcinoma sample
P06241	FYN_HUMAN	506	D	E	Polymorphism	-
P06241	FYN_HUMAN	445	I	F	Polymorphism	-
P06276	CHLE_HUMAN	62	A	V	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	98	D	G	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	414	R	C	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	418	G	V	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	227	A	V	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	498	R	W	Polymorphism	-
P06276	CHLE_HUMAN	283	E	D	Polymorphism	-
P06276	CHLE_HUMAN	103	G	R	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	393	G	R	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	361	G	C	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	226	S	G	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	271	T	M	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	198	D	E	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	567	A	T	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	229	A	T	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	118	E	D	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	52	T	M	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	40	K	R	Polymorphism	-
P06276	CHLE_HUMAN	170	V	M	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	356	A	D	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	358	L	I	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	61	Y	C	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	98	D	H	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	128	P	S	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	278	T	P	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	143	G	D	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	525	E	V	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	335	L	P	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	153	L	F	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	488	E	K	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	295	K	R	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	499	W	R	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	56	F	I	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	156	Y	C	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	65	P	S	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	127	I	M	Polymorphism	-
P06276	CHLE_HUMAN	124	N	Y	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	546	Q	L	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	232	V	D	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	446	F	S	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	322	V	M	Polymorphism	-
P06276	CHLE_HUMAN	543	R	C	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06276	CHLE_HUMAN	502	F	L	Disease	Butyrylcholinesterase deficiency (BCHED) [MIM:617936]
P06280	AGAL_HUMAN	144	G	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	162	W	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	93	D	N	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	146	P	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	267	M	I	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	166	L	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	287	W	C	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	165	D	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	219	I	N	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	65	S	T	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	142	C	Y	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	143	A	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	266	D	H	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	43	G	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	272	N	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	112	R	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	156	A	T	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	131	L	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	171	G	D	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	113	F	I	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	213	K	R	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	266	D	N	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	410	T	A	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	279	Q	H	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	156	A	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	196	R	S	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	377	A	D	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	263	N	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	164	V	G	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	280	Q	H	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	224	N	D	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	46	H	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	120	L	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	52	C	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	373	G	D	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	202	C	W	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	172	C	Y	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	205	P	T	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	215	N	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	328	G	A	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	265	P	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	40	P	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	60	P	L	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	363	R	H	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	49	R	L	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	328	G	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	227	R	Q	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	227	R	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	46	H	Y	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	259	P	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	201	S	F	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	219	I	T	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	167	L	Q	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	373	G	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	330	Q	R	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	56	C	G	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	52	C	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	3	L	P	Polymorphism	-
P06280	AGAL_HUMAN	36	L	W	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	287	W	G	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	47	W	G	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	164	V	L	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	236	W	L	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	154	I	T	Polymorphism	-
P06280	AGAL_HUMAN	180	L	F	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	32	L	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	323	P	R	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	309	A	V	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	361	G	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	342	R	Q	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	89	L	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	35	G	E	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	219	I	M	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	228	N	S	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	258	G	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	360	G	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	187	M	I	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	327	Q	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	375	G	A	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	214	P	L	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	315	D	N	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	289	I	V	Polymorphism	-
P06280	AGAL_HUMAN	85	G	D	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	301	R	Q	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	172	C	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	21	L	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	396	F	Y	Unclassified	-
P06280	AGAL_HUMAN	259	P	L	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	42	M	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	244	D	H	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	352	A	G	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	34	N	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	313	D	N	Polymorphism	-
P06280	AGAL_HUMAN	45	L	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	269	V	A	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	356	R	W	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	378	C	Y	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	128	G	E	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	33	D	G	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	163	G	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	20	A	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	261	G	D	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	135	A	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	327	Q	L	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	356	R	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	317	I	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	392	R	S	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	230	A	T	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	66	E	Q	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	279	Q	E	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	142	C	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	20	A	D	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	134	Y	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	48	E	D	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	338	E	K	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	260	G	A	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	42	M	L	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	121	A	T	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	342	R	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	226	W	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	266	D	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	42	M	T	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	72	M	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	86	Y	C	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	113	F	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	414	L	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	148	S	N	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	86	Y	H	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	40	P	L	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	399	W	S	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	409	P	A	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	80	G	D	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	3	L	V	Polymorphism	-
P06280	AGAL_HUMAN	242	I	N	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	235	S	C	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	358	E	A	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	59	E	K	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	247	S	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	92	D	Y	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	328	G	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	358	E	K	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	316	V	E	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	297	S	F	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	46	H	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	409	P	T	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	31	A	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	272	N	K	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	47	W	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	269	V	G	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	321	Q	E	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	94	C	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	89	L	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	100	R	T	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	162	W	C	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	204	W	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	288	A	D	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	298	N	K	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	231	D	N	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	313	D	Y	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	236	W	C	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	56	C	F	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	91	I	T	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	49	R	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	242	I	V	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	341	E	K	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	296	M	I	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	91	I	N	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	64	I	F	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	356	R	Q	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	244	D	N	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	253	I	T	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	316	V	A	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	276	S	G	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	264	D	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	298	N	H	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	254	V	A	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	223	C	G	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	148	S	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	327	Q	K	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	284	M	T	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	296	M	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	100	R	K	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	112	R	C	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	49	R	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	340	W	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	97	A	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	298	N	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	360	G	C	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	71	E	G	Polymorphism	-
P06280	AGAL_HUMAN	112	R	H	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	264	D	Y	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	143	A	T	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	262	W	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	92	D	H	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	320	N	K	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	56	C	Y	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	183	G	D	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	300	L	F	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	285	A	P	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	202	C	Y	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	94	C	Y	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	170	D	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	234	D	E	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	93	D	G	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	35	G	R	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	320	N	Y	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	95	W	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	187	M	V	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	113	F	L	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	224	N	S	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	216	Y	D	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	249	N	K	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	198	I	T	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	289	I	F	Disease	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	243	L	F	Unclassified	Fabry disease (FD) [MIM:301500]
P06280	AGAL_HUMAN	138	G	R	Disease	Fabry disease (FD) [MIM:301500]
P06307	CCKN_HUMAN	95	R	W	Polymorphism	-
P06307	CCKN_HUMAN	32	G	E	Polymorphism	-
P06340	DOA_HUMAN	105	R	C	Polymorphism	-
P06340	DOA_HUMAN	99	L	V	Polymorphism	-
P06396	GELS_HUMAN	214	D	N	Disease	Amyloidosis 5 (AMYL5) [MIM:105120]
P06396	GELS_HUMAN	201	T	I	Unclassified	A breast cancer sample
P06396	GELS_HUMAN	668	R	L	Polymorphism	-
P06396	GELS_HUMAN	22	S	L	Unclassified	A breast cancer sample
P06396	GELS_HUMAN	214	D	Y	Disease	Amyloidosis 5 (AMYL5) [MIM:105120]
P06396	GELS_HUMAN	129	A	T	Polymorphism	-
P06396	GELS_HUMAN	231	N	D	Polymorphism	-
P06396	GELS_HUMAN	611	S	N	Unclassified	A breast cancer sample
P06400	RB_HUMAN	803	N	K	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	706	C	Y	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	712	C	R	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	173	Y	H	Polymorphism	-
P06400	RB_HUMAN	530	K	R	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	685	Q	P	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	436	Q	K	Polymorphism	-
P06400	RB_HUMAN	567	S	L	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	457	M	R	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	500	R	G	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	133	N	H	Polymorphism	-
P06400	RB_HUMAN	635	A	P	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	673	H	P	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	616	K	E	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	654	V	E	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	447	K	Q	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	525	A	G	Polymorphism	-
P06400	RB_HUMAN	358	R	G	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	661	R	W	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	569	L	F	Polymorphism	-
P06400	RB_HUMAN	657	L	P	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	358	R	Q	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	137	E	D	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	549	H	Y	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	662	L	P	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	185	I	T	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	72	E	Q	Disease	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	310	G	E	Unclassified	Childhood cancer retinoblastoma (RB) [MIM:180200]
P06400	RB_HUMAN	697	D	E	Polymorphism	-
P06400	RB_HUMAN	746	E	G	Polymorphism	-
P06401	PRGR_HUMAN	660	V	L	Polymorphism	-
P06401	PRGR_HUMAN	50	A	T	Polymorphism	-
P06401	PRGR_HUMAN	536	Q	P	Polymorphism	-
P06401	PRGR_HUMAN	301	M	R	Polymorphism	-
P06401	PRGR_HUMAN	120	A	V	Polymorphism	-
P06401	PRGR_HUMAN	651	L	V	Polymorphism	-
P06401	PRGR_HUMAN	865	S	L	Polymorphism	-
P06401	PRGR_HUMAN	529	V	L	Polymorphism	-
P06401	PRGR_HUMAN	344	S	T	Polymorphism	-
P06401	PRGR_HUMAN	444	A	S	Polymorphism	-
P06401	PRGR_HUMAN	625	R	I	Polymorphism	-
P06401	PRGR_HUMAN	186	P	L	Polymorphism	-
P06401	PRGR_HUMAN	347	C	S	Polymorphism	-
P06576	ATPB_HUMAN	130	A	V	Polymorphism	-
P06576	ATPB_HUMAN	274	E	Q	Polymorphism	-
P06681	CO2_HUMAN	209	S	F	Disease	Complement component 2 deficiency (C2D) [MIM:217000]
P06681	CO2_HUMAN	533	F	L	Polymorphism	-
P06681	CO2_HUMAN	464	G	R	Disease	Complement component 2 deficiency (C2D) [MIM:217000]
P06681	CO2_HUMAN	318	E	D	Polymorphism	-
P06681	CO2_HUMAN	131	C	Y	Disease	Complement component 2 deficiency (C2D) [MIM:217000]
P06681	CO2_HUMAN	734	R	C	Polymorphism	-
P06702	S10A9_HUMAN	20	H	R	Polymorphism	-
P06703	S10A6_HUMAN	69	N	S	Polymorphism	-
P06703	S10A6_HUMAN	27	H	R	Polymorphism	-
P06703	S10A6_HUMAN	83	I	T	Polymorphism	-
P06703	S10A6_HUMAN	90	G	D	Polymorphism	-
P06727	APOA4_HUMAN	264	R	Q	Polymorphism	-
P06727	APOA4_HUMAN	279	R	K	Polymorphism	-
P06727	APOA4_HUMAN	74	G	S	Polymorphism	-
P06727	APOA4_HUMAN	187	K	E	Polymorphism	-
P06727	APOA4_HUMAN	307	V	L	Polymorphism	-
P06727	APOA4_HUMAN	380	Q	H	Polymorphism	-
P06727	APOA4_HUMAN	44	E	K	Unclassified	-
P06727	APOA4_HUMAN	185	E	K	Polymorphism	-
P06727	APOA4_HUMAN	77	Q	H	Polymorphism	-
P06727	APOA4_HUMAN	161	A	S	Polymorphism	-
P06727	APOA4_HUMAN	178	S	L	Polymorphism	-
P06727	APOA4_HUMAN	367	T	S	Polymorphism	-
P06727	APOA4_HUMAN	250	E	K	Polymorphism	-
P06727	APOA4_HUMAN	305	R	C	Polymorphism	-
P06727	APOA4_HUMAN	13	V	M	Polymorphism	-
P06727	APOA4_HUMAN	147	N	S	Polymorphism	-
P06729	CD2_HUMAN	339	H	N	Polymorphism	-
P06729	CD2_HUMAN	217	C	Y	Unclassified	A breast cancer sample
P06729	CD2_HUMAN	266	H	Q	Polymorphism	-
P06731	CEAM5_HUMAN	80	I	V	Polymorphism	-
P06731	CEAM5_HUMAN	664	R	S	Polymorphism	-
P06731	CEAM5_HUMAN	678	G	R	Polymorphism	-
P06731	CEAM5_HUMAN	398	K	E	Polymorphism	-
P06731	CEAM5_HUMAN	340	A	D	Polymorphism	-
P06731	CEAM5_HUMAN	83	V	A	Polymorphism	-
P06731	CEAM5_HUMAN	137	Q	P	Polymorphism	-
P06732	KCRM_HUMAN	166	T	M	Polymorphism	-
P06732	KCRM_HUMAN	83	E	G	Polymorphism	-
P06732	KCRM_HUMAN	243	G	A	Polymorphism	-
P06732	KCRM_HUMAN	127	L	V	Polymorphism	-
P06733	ENOA_HUMAN	177	N	K	Polymorphism	-
P06733	ENOA_HUMAN	325	P	Q	Polymorphism	-
P06734	FCER2_HUMAN	316	S	F	Polymorphism	-
P06734	FCER2_HUMAN	284	R	Q	Polymorphism	-
P06734	FCER2_HUMAN	62	R	W	Polymorphism	-
P06737	PYGL_HUMAN	339	N	S	Disease	Glycogen storage disease 6 (GSD6) [MIM:232700]
P06737	PYGL_HUMAN	698	V	G	Polymorphism	-
P06737	PYGL_HUMAN	806	I	L	Polymorphism	-
P06737	PYGL_HUMAN	715	R	S	Polymorphism	-
P06737	PYGL_HUMAN	845	N	S	Polymorphism	-
P06737	PYGL_HUMAN	222	V	I	Polymorphism	-
P06737	PYGL_HUMAN	425	R	P	Polymorphism	-
P06737	PYGL_HUMAN	377	N	K	Disease	Glycogen storage disease 6 (GSD6) [MIM:232700]
P06737	PYGL_HUMAN	231	V	E	Polymorphism	-
P06744	G6PI_HUMAN	75	R	G	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	83	R	W	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	20	H	P	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	278	S	L	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	487	L	F	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	517	L	V	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	339	L	P	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	101	V	M	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	343	Q	R	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	195	T	I	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	300	A	P	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	308	R	H	Polymorphism	-
P06744	G6PI_HUMAN	347	R	H	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	347	R	C	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	389	H	R	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	273	R	H	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	159	G	S	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	525	I	T	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	495	E	K	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	224	T	M	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	472	R	H	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	539	D	N	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	5	T	I	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06744	G6PI_HUMAN	208	I	T	Polymorphism	-
P06744	G6PI_HUMAN	375	T	R	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
P06746	DPOLB_HUMAN	242	P	R	Polymorphism	-
P06753	TPM3_HUMAN	168	R	C	Disease	Nemaline myopathy 1 (NEM1) [MIM:609284]
P06753	TPM3_HUMAN	245	R	G	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P06753	TPM3_HUMAN	168	R	C	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P06753	TPM3_HUMAN	151	E	A	Disease	Cap myopathy 1 (CAPM1) [MIM:609284]
P06753	TPM3_HUMAN	168	R	H	Disease	Nemaline myopathy 1 (NEM1) [MIM:609284]
P06753	TPM3_HUMAN	168	R	G	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P06753	TPM3_HUMAN	91	R	C	Disease	-
P06753	TPM3_HUMAN	149	L	I	Disease	Cap myopathy 1 (CAPM1) [MIM:609284]
P06753	TPM3_HUMAN	169	K	E	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P06753	TPM3_HUMAN	100	L	M	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P06753	TPM3_HUMAN	88	S	F	Disease	Nemaline myopathy 1 (NEM1) [MIM:609284]
P06753	TPM3_HUMAN	253	T	K	Disease	-
P06753	TPM3_HUMAN	241	E	K	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P06753	TPM3_HUMAN	245	R	I	Disease	Cap myopathy 1 (CAPM1) [MIM:609284]
P06753	TPM3_HUMAN	168	R	H	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P06753	TPM3_HUMAN	168	R	C	Disease	Cap myopathy 1 (CAPM1) [MIM:609284]
P06753	TPM3_HUMAN	4	A	V	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P06753	TPM3_HUMAN	174	E	A	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P06753	TPM3_HUMAN	100	L	V	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P06753	TPM3_HUMAN	9	M	R	Disease	Nemaline myopathy 1 (NEM1) [MIM:609284]
P06753	TPM3_HUMAN	91	R	P	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P06753	TPM3_HUMAN	88	S	F	Disease	Cap myopathy 1 (CAPM1) [MIM:609284]
P06753	TPM3_HUMAN	168	R	H	Disease	Cap myopathy 1 (CAPM1) [MIM:609284]
P06756	ITAV_HUMAN	548	S	A	Polymorphism	-
P06756	ITAV_HUMAN	405	I	V	Polymorphism	-
P06756	ITAV_HUMAN	783	V	I	Polymorphism	-
P06850	CRF_HUMAN	30	P	R	Unclassified	-
P06858	LIPL_HUMAN	297	F	L	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	328	M	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	313	L	P	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	279	L	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	183	D	H	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	215	G	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	365	S	F	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	181	G	V	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	203	A	T	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	98	A	T	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	207	D	E	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	303	L	F	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	183	D	N	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	252	I	T	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	270	R	C	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	270	R	H	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	266	C	W	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	220	S	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	128	T	A	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	215	G	E	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	185	A	T	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	310	C	Y	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	289	Y	H	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	305	C	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	227	V	A	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	222	G	E	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	184	P	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	232	I	S	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	163	H	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	132	G	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	190	E	G	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	330	L	F	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	243	C	S	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	279	L	V	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	234	P	L	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	221	I	T	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	392	L	V	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	210	H	Q	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	199	S	C	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	210	H	D	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	325	S	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	169	G	E	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	102	R	S	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	445	C	Y	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	231	D	E	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	113	W	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	70	N	S	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	36	D	N	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	286	S	G	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	271	S	T	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	225	K	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	113	W	G	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	71	H	Q	Polymorphism	-
P06858	LIPL_HUMAN	183	D	G	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	318	N	S	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	181	G	S	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	427	A	T	Polymorphism	-
P06858	LIPL_HUMAN	288	A	T	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	448	E	K	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	201	D	V	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	277	D	N	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	379	T	A	Polymorphism	-
P06858	LIPL_HUMAN	208	V	I	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	96	V	L	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	186	G	E	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	404	M	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	370	V	M	Polymorphism	-
P06858	LIPL_HUMAN	361	A	T	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	328	M	T	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	278	S	C	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	437	E	V	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	437	E	K	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	286	S	R	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06858	LIPL_HUMAN	330	L	P	Disease	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
P06865	HEXA_HUMAN	252	R	H	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	455	G	R	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	127	L	R	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	499	R	C	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	25	P	S	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	197	K	T	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	178	R	H	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	474	W	C	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	252	R	L	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	180	Y	H	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	210	S	F	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	211	F	S	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	250	G	S	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	127	L	F	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	196	N	S	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	178	R	C	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	485	W	R	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	39	L	R	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	192	V	L	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	458	C	Y	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	200	V	M	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	499	R	H	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	335	I	F	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	504	R	C	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	249	R	W	Polymorphism	-
P06865	HEXA_HUMAN	482	E	K	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	178	R	L	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	170	R	W	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	166	R	G	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	204	H	R	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	250	G	D	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	322	D	N	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	247	R	W	Polymorphism	-
P06865	HEXA_HUMAN	170	R	Q	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	504	R	H	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	393	R	P	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	295	N	S	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	226	S	F	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	399	N	D	Polymorphism	-
P06865	HEXA_HUMAN	454	G	S	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	314	D	V	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	322	D	Y	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	293	S	I	Polymorphism	-
P06865	HEXA_HUMAN	301	M	R	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	478	G	R	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	436	I	V	Polymorphism	-
P06865	HEXA_HUMAN	269	G	D	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	484	L	Q	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	269	G	S	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	258	D	H	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	420	W	C	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	114	E	K	Unclassified	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	462	E	V	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	279	S	P	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06865	HEXA_HUMAN	391	V	M	Disease	GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
P06870	KLK1_HUMAN	186	K	E	Polymorphism	-
P06870	KLK1_HUMAN	77	R	H	Polymorphism	-
P06870	KLK1_HUMAN	193	V	E	Polymorphism	-
P06870	KLK1_HUMAN	145	E	Q	Polymorphism	-
P06881	CALCA_HUMAN	57	D	N	Polymorphism	-
P07093	GDN_HUMAN	51	I	M	Polymorphism	-
P07093	GDN_HUMAN	204	K	N	Unclassified	A breast cancer sample
P07098	LIPG_HUMAN	161	T	A	Polymorphism	-
P07098	LIPG_HUMAN	224	F	I	Polymorphism	-
P07098	LIPG_HUMAN	348	P	T	Polymorphism	-
P07099	HYEP_HUMAN	260	L	P	Polymorphism	-
P07099	HYEP_HUMAN	43	R	T	Polymorphism	-
P07099	HYEP_HUMAN	396	T	I	Polymorphism	-
P07099	HYEP_HUMAN	408	T	M	Polymorphism	-
P07099	HYEP_HUMAN	454	R	Q	Polymorphism	-
P07099	HYEP_HUMAN	49	R	C	Polymorphism	-
P07099	HYEP_HUMAN	113	Y	H	Polymorphism	-
P07099	HYEP_HUMAN	452	L	Q	Polymorphism	-
P07099	HYEP_HUMAN	139	H	R	Polymorphism	-
P07099	HYEP_HUMAN	285	V	L	Polymorphism	-
P07099	HYEP_HUMAN	44	E	Q	Polymorphism	-
P07099	HYEP_HUMAN	275	T	A	Polymorphism	-
P07101	TY3H_HUMAN	19	S	C	Unclassified	-
P07101	TY3H_HUMAN	279	C	F	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	510	L	Q	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	296	R	Q	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	382	I	T	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	227	D	G	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	112	V	M	Polymorphism	-
P07101	TY3H_HUMAN	414	G	R	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	499	V	M	Polymorphism	-
P07101	TY3H_HUMAN	207	C	Y	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	236	L	P	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	314	T	M	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	494	T	M	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	276	T	P	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	492	P	L	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	428	G	R	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	251	P	L	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	241	A	T	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	233	R	H	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	441	R	P	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	399	T	M	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	412	Q	K	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	408	G	R	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	246	H	Y	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	498	D	G	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	337	R	H	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	387	L	M	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	467	S	G	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	328	R	W	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	247	G	S	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	315	G	S	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	309	F	S	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	319	R	P	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	301	P	A	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	294	G	R	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	376	A	V	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	259	E	G	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	375	F	L	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	385	A	V	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	359	C	F	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07101	TY3H_HUMAN	394	I	T	Disease	Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
P07108	ACBP_HUMAN	39	D	N	Polymorphism	-
P07108	ACBP_HUMAN	86	G	R	Polymorphism	-
P07108	ACBP_HUMAN	71	M	V	Polymorphism	-
P07148	FABPL_HUMAN	54	A	T	Polymorphism	-
P07148	FABPL_HUMAN	94	T	A	Polymorphism	-
P07195	LDHB_HUMAN	175	M	V	Polymorphism	-
P07195	LDHB_HUMAN	69	G	E	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
P07195	LDHB_HUMAN	7	K	E	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
P07195	LDHB_HUMAN	171	F	V	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
P07195	LDHB_HUMAN	175	M	L	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
P07195	LDHB_HUMAN	172	R	H	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
P07195	LDHB_HUMAN	107	R	W	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
P07195	LDHB_HUMAN	35	A	E	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
P07195	LDHB_HUMAN	129	S	R	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
P07195	LDHB_HUMAN	172	R	P	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
P07195	LDHB_HUMAN	322	D	V	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
P07195	LDHB_HUMAN	325	W	R	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
P07196	NFL_HUMAN	332	Q	P	Disease	Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684]
P07196	NFL_HUMAN	90	E	K	Disease	Charcot-Marie-Tooth disease 1F (CMT1F) [MIM:607734]
P07196	NFL_HUMAN	268	L	P	Disease	Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684]
P07196	NFL_HUMAN	396	E	K	Disease	Charcot-Marie-Tooth disease, dominant intermediate G (CMTDIG) [MIM:617882]
P07196	NFL_HUMAN	8	P	Q	Disease	Charcot-Marie-Tooth disease 1F (CMT1F) [MIM:607734]
P07196	NFL_HUMAN	8	P	R	Disease	Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684]
P07196	NFL_HUMAN	468	D	N	Polymorphism	-
P07196	NFL_HUMAN	98	N	S	Disease	Charcot-Marie-Tooth disease 1F (CMT1F) [MIM:607734]
P07196	NFL_HUMAN	396	E	K	Disease	Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684]
P07196	NFL_HUMAN	336	L	P	Unclassified	Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684]
P07196	NFL_HUMAN	440	P	L	Unclassified	Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684]
P07196	NFL_HUMAN	7	E	K	Polymorphism	-
P07196	NFL_HUMAN	265	Y	C	Unclassified	Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684]
P07196	NFL_HUMAN	98	N	S	Disease	Charcot-Marie-Tooth disease, dominant intermediate G (CMTDIG) [MIM:617882]
P07196	NFL_HUMAN	8	P	L	Disease	Charcot-Marie-Tooth disease 1F (CMT1F) [MIM:607734]
P07196	NFL_HUMAN	8	P	R	Disease	Charcot-Marie-Tooth disease 1F (CMT1F) [MIM:607734]
P07196	NFL_HUMAN	213	I	M	Polymorphism	-
P07196	NFL_HUMAN	22	P	S	Disease	Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684]
P07197	NFM_HUMAN	439	P	T	Polymorphism	-
P07197	NFM_HUMAN	725	P	Q	Polymorphism	-
P07202	PERT_HUMAN	648	R	Q	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	533	G	C	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	796	D	Y	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	491	R	H	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	326	A	T	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	493	G	S	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	378	E	K	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	706	M	V	Polymorphism	-
P07202	PERT_HUMAN	665	R	W	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	660	Q	E	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	373	A	S	Polymorphism	-
P07202	PERT_HUMAN	240	D	N	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	618	V	M	Polymorphism	-
P07202	PERT_HUMAN	398	S	T	Polymorphism	-
P07202	PERT_HUMAN	590	G	S	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	847	V	A	Polymorphism	-
P07202	PERT_HUMAN	453	Y	D	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	412	R	H	Unclassified	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	808	C	R	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	499	P	L	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	846	R	W	Polymorphism	-
P07202	PERT_HUMAN	799	E	K	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	839	V	I	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	447	I	F	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	53	A	P	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	527	W	C	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	458	L	P	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	725	T	P	Polymorphism	-
P07202	PERT_HUMAN	771	G	R	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	793	L	P	Polymorphism	-
P07202	PERT_HUMAN	693	R	W	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	307	N	T	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	433	V	M	Disease	Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
P07202	PERT_HUMAN	257	A	S	Polymorphism	-
P07203	GPX1_HUMAN	5	R	P	Polymorphism	-
P07203	GPX1_HUMAN	194	A	T	Polymorphism	-
P07203	GPX1_HUMAN	200	P	L	Polymorphism	-
P07204	TRBM_HUMAN	79	G	A	Polymorphism	-
P07204	TRBM_HUMAN	495	P	S	Disease	Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
P07204	TRBM_HUMAN	486	D	Y	Disease	Thrombophilia due to thrombomodulin defect (THPH12) [MIM:614486]
P07204	TRBM_HUMAN	473	A	V	Polymorphism	-
P07204	TRBM_HUMAN	34	D	E	Disease	Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
P07204	TRBM_HUMAN	43	A	T	Disease	Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
P07204	TRBM_HUMAN	501	P	L	Disease	Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
P07204	TRBM_HUMAN	486	D	Y	Disease	Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
P07204	TRBM_HUMAN	53	D	G	Disease	Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
P07204	TRBM_HUMAN	81	V	L	Disease	Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
P07204	TRBM_HUMAN	162	A	P	Polymorphism	-
P07204	TRBM_HUMAN	236	A	G	Disease	Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
P07225	PROS_HUMAN	168	N	S	Polymorphism	-
P07225	PROS_HUMAN	243	D	N	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	351	L	P	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	562	I	L	Unclassified	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	247	C	G	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	265	C	W	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	545	E	G	Unclassified	A colorectal cancer sample
P07225	PROS_HUMAN	515	R	P	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	72	F	C	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	241	C	S	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	245	D	G	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	339	L	P	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	88	C	Y	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	166	N	Y	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	76	P	L	Polymorphism	-
P07225	PROS_HUMAN	78	T	M	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	640	M	T	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	336	G	D	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	584	L	Q	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	583	N	H	Polymorphism	-
P07225	PROS_HUMAN	357	G	R	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	266	Y	C	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	233	R	K	Polymorphism	-
P07225	PROS_HUMAN	15	L	H	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	611	M	K	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	559	I	M	Polymorphism	-
P07225	PROS_HUMAN	515	R	C	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	532	T	A	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	381	G	V	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	381	G	D	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	355	R	H	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	265	C	R	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	121	C	Y	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	258	N	S	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	526	L	S	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	568	C	Y	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	639	C	F	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	446	L	P	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	521	G	D	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	525	A	P	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	90	R	C	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	111	R	S	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	101	R	C	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	376	D	N	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	561	R	G	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	664	H	P	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	575	L	R	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	667	P	L	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	611	M	T	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	385	M	V	Polymorphism	-
P07225	PROS_HUMAN	644	I	S	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	161	C	G	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	501	S	A	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	449	C	S	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	95	G	R	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	300	L	P	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	249	E	K	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	364	K	E	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	336	G	V	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	475	C	R	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	666	C	R	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	636	Y	C	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	552	L	S	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	204	E	G	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	95	G	E	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	508	V	G	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	508	V	M	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	336	G	S	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	234	Y	C	Disease	Thrombophilia due to protein S deficiency, autosomal recessive (THPH6) [MIM:614514]
P07225	PROS_HUMAN	41	R	H	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	324	S	P	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	622	L	R	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	639	C	Y	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	267	C	S	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	630	T	I	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	52	G	D	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	390	E	K	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	98	T	S	Polymorphism	-
P07225	PROS_HUMAN	87	V	L	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	638	G	D	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	665	S	L	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	18	V	E	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	616	A	P	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	175	C	F	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	40	R	L	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	196	K	E	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	383	W	R	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	485	Y	C	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	501	S	P	Polymorphism	-
P07225	PROS_HUMAN	129	D	G	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	50	K	E	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	149	W	C	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	157	D	G	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	90	R	H	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	482	G	C	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	67	E	A	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	68	A	D	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	144	T	N	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07225	PROS_HUMAN	186	C	Y	Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
P07237	PDIA1_HUMAN	393	Y	C	Disease	Cole-Carpenter syndrome 1 (CLCRP1) [MIM:112240]
P07288	KLK3_HUMAN	179	I	T	Polymorphism	-
P07288	KLK3_HUMAN	132	L	I	Polymorphism	-
P07288	KLK3_HUMAN	32	E	K	Polymorphism	-
P07307	ASGR2_HUMAN	85	G	R	Polymorphism	-
P07315	CRGC_HUMAN	6	F	L	Polymorphism	-
P07315	CRGC_HUMAN	129	G	C	Disease	Cataract 2, multiple types (CTRCT2) [MIM:604307]
P07315	CRGC_HUMAN	168	R	W	Unclassified	Cataract 2, multiple types (CTRCT2) [MIM:604307]
P07315	CRGC_HUMAN	48	R	H	Polymorphism	-
P07315	CRGC_HUMAN	5	T	P	Disease	Cataract 2, multiple types (CTRCT2) [MIM:604307]
P07316	CRGB_HUMAN	111	I	L	Polymorphism	-
P07316	CRGB_HUMAN	90	R	T	Polymorphism	-
P07316	CRGB_HUMAN	73	S	I	Polymorphism	-
P07320	CRGD_HUMAN	102	M	V	Polymorphism	-
P07320	CRGD_HUMAN	59	R	H	Disease	Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320	CRGD_HUMAN	24	P	T	Disease	Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320	CRGD_HUMAN	37	R	S	Disease	Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320	CRGD_HUMAN	15	R	C	Disease	Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320	CRGD_HUMAN	24	P	S	Disease	Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320	CRGD_HUMAN	43	W	R	Disease	Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320	CRGD_HUMAN	107	E	A	Disease	Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07332	FES_HUMAN	85	R	C	Polymorphism	-
P07332	FES_HUMAN	246	R	Q	Polymorphism	-
P07332	FES_HUMAN	323	M	V	Polymorphism	-
P07333	CSF1R_HUMAN	868	L	P	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	849	F	S	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	875	M	T	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	969	Y	C	Polymorphism	-
P07333	CSF1R_HUMAN	747	G	R	Polymorphism	-
P07333	CSF1R_HUMAN	245	A	S	Polymorphism	-
P07333	CSF1R_HUMAN	653	C	R	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	633	E	K	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	589	G	E	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	837	D	Y	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	693	P	H	Unclassified	A lung squamous cell carcinoma sample
P07333	CSF1R_HUMAN	794	I	T	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	766	M	T	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	770	A	P	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	710	R	H	Polymorphism	-
P07333	CSF1R_HUMAN	921	R	Q	Polymorphism	-
P07333	CSF1R_HUMAN	536	L	V	Polymorphism	-
P07333	CSF1R_HUMAN	279	V	M	Polymorphism	-
P07333	CSF1R_HUMAN	775	I	N	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	362	H	R	Polymorphism	-
P07333	CSF1R_HUMAN	413	G	S	Polymorphism	-
P07333	CSF1R_HUMAN	920	E	D	Polymorphism	-
P07333	CSF1R_HUMAN	843	I	F	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	906	I	T	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	878	P	T	Disease	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333	CSF1R_HUMAN	32	V	G	Polymorphism	-
P07339	CATD_HUMAN	58	A	V	Polymorphism	-
P07339	CATD_HUMAN	282	G	R	Polymorphism	-
P07339	CATD_HUMAN	229	F	I	Disease	Ceroid lipofuscinosis, neuronal, 10 (CLN10) [MIM:610127]
P07339	CATD_HUMAN	383	W	C	Disease	Ceroid lipofuscinosis, neuronal, 10 (CLN10) [MIM:610127]
P07355	ANXA2_HUMAN	98	V	L	Polymorphism	-
P07357	CO8A_HUMAN	561	E	Q	Polymorphism	-
P07357	CO8A_HUMAN	485	R	L	Polymorphism	-
P07357	CO8A_HUMAN	407	T	I	Polymorphism	-
P07357	CO8A_HUMAN	575	P	L	Polymorphism	-
P07357	CO8A_HUMAN	93	Q	K	Polymorphism	-
P07357	CO8A_HUMAN	458	D	N	Polymorphism	-
P07358	CO8B_HUMAN	117	R	G	Polymorphism	-
P07358	CO8B_HUMAN	261	P	L	Polymorphism	-
P07358	CO8B_HUMAN	108	E	K	Polymorphism	-
P07359	GP1BA_HUMAN	249	G	V	Disease	Pseudo-von Willebrand disease (VWDP) [MIM:177820]
P07359	GP1BA_HUMAN	161	T	M	Polymorphism	-
P07359	GP1BA_HUMAN	225	C	S	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P07359	GP1BA_HUMAN	172	A	V	Disease	Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670]
P07359	GP1BA_HUMAN	73	L	F	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P07359	GP1BA_HUMAN	249	G	S	Disease	Pseudo-von Willebrand disease (VWDP) [MIM:177820]
P07359	GP1BA_HUMAN	145	L	P	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P07359	GP1BA_HUMAN	81	C	R	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P07359	GP1BA_HUMAN	172	A	V	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P07359	GP1BA_HUMAN	86	L	F	Polymorphism	-
P07359	GP1BA_HUMAN	255	M	V	Disease	Pseudo-von Willebrand disease (VWDP) [MIM:177820]
P07359	GP1BA_HUMAN	72	R	H	Polymorphism	-
P07359	GP1BA_HUMAN	254	A	S	Polymorphism	-
P07360	CO8G_HUMAN	69	R	Q	Polymorphism	-
P07360	CO8G_HUMAN	118	D	G	Polymorphism	-
P07360	CO8G_HUMAN	124	H	N	Polymorphism	-
P07384	CAN1_HUMAN	295	R	P	Disease	Spastic paraplegia 76, autosomal recessive (SPG76) [MIM:616907]
P07384	CAN1_HUMAN	103	T	A	Polymorphism	-
P07384	CAN1_HUMAN	492	G	R	Polymorphism	-
P07384	CAN1_HUMAN	676	V	I	Polymorphism	-
P07384	CAN1_HUMAN	433	R	P	Polymorphism	-
P07437	TBB5_HUMAN	353	V	I	Disease	Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771]
P07437	TBB5_HUMAN	222	Y	F	Disease	Skin creases, congenital symmetric circumferential, 1 (CSCSC1) [MIM:156610]
P07437	TBB5_HUMAN	401	E	K	Disease	Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771]
P07437	TBB5_HUMAN	299	M	V	Disease	Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771]
P07437	TBB5_HUMAN	15	Q	K	Disease	Skin creases, congenital symmetric circumferential, 1 (CSCSC1) [MIM:156610]
P07451	CAH3_HUMAN	31	V	I	Polymorphism	-
P07476	INVO_HUMAN	237	Q	E	Polymorphism	-
P07476	INVO_HUMAN	480	V	L	Polymorphism	-
P07476	INVO_HUMAN	174	K	E	Polymorphism	-
P07476	INVO_HUMAN	113	T	A	Polymorphism	-
P07476	INVO_HUMAN	227	E	Q	Polymorphism	-
P07476	INVO_HUMAN	166	L	P	Polymorphism	-
P07476	INVO_HUMAN	312	Q	K	Polymorphism	-
P07476	INVO_HUMAN	236	P	S	Polymorphism	-
P07477	TRY1_HUMAN	116	R	C	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07477	TRY1_HUMAN	122	R	C	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07477	TRY1_HUMAN	29	N	T	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07477	TRY1_HUMAN	79	E	K	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07477	TRY1_HUMAN	16	A	V	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07477	TRY1_HUMAN	137	T	M	Unclassified	A colorectal cancer sample
P07477	TRY1_HUMAN	139	C	F	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07477	TRY1_HUMAN	29	N	I	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07477	TRY1_HUMAN	22	D	G	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07477	TRY1_HUMAN	54	N	S	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07477	TRY1_HUMAN	122	R	H	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07477	TRY1_HUMAN	23	K	R	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07477	TRY1_HUMAN	104	L	P	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
P07478	TRY2_HUMAN	117	A	V	Polymorphism	-
P07478	TRY2_HUMAN	153	D	H	Polymorphism	-
P07492	GRP_HUMAN	4	R	S	Polymorphism	-
P07498	CASK_HUMAN	75	Y	C	Polymorphism	-
P07498	CASK_HUMAN	145	A	T	Polymorphism	-
P07498	CASK_HUMAN	110	R	L	Polymorphism	-
P07510	ACHG_HUMAN	239	R	C	Disease	Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]
P07510	ACHG_HUMAN	107	V	G	Disease	Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]
P07510	ACHG_HUMAN	149	A	T	Polymorphism	-
P07510	ACHG_HUMAN	107	V	G	Disease	Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000]
P07510	ACHG_HUMAN	239	R	C	Disease	Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000]
P07550	ADRB2_HUMAN	34	V	M	Polymorphism	-
P07550	ADRB2_HUMAN	27	E	Q	Polymorphism	-
P07550	ADRB2_HUMAN	16	G	R	Polymorphism	-
P07550	ADRB2_HUMAN	220	S	C	Polymorphism	-
P07550	ADRB2_HUMAN	164	T	I	Polymorphism	-
P07550	ADRB2_HUMAN	159	I	L	Polymorphism	-
P07550	ADRB2_HUMAN	375	K	R	Polymorphism	-
P07550	ADRB2_HUMAN	159	I	F	Polymorphism	-
P07550	ADRB2_HUMAN	15	N	S	Polymorphism	-
P07585	PGS2_HUMAN	268	T	M	Polymorphism	-
P07585	PGS2_HUMAN	273	E	Q	Polymorphism	-
P07602	SAP_HUMAN	215	N	H	Disease	Metachromatic leukodystrophy due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
P07602	SAP_HUMAN	349	L	P	Disease	Gaucher disease, atypical, due to saposin C deficiency (AGD) [MIM:610539]
P07602	SAP_HUMAN	217	T	I	Disease	Metachromatic leukodystrophy due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
P07602	SAP_HUMAN	241	C	S	Disease	Metachromatic leukodystrophy due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
P07602	SAP_HUMAN	388	C	F	Disease	Gaucher disease, atypical, due to saposin C deficiency (AGD) [MIM:610539]
P07602	SAP_HUMAN	215	N	K	Disease	Metachromatic leukodystrophy due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
P07686	HEXB_HUMAN	121	K	R	Polymorphism	-
P07686	HEXB_HUMAN	207	I	V	Polymorphism	-
P07686	HEXB_HUMAN	543	A	T	Disease	GM2-gangliosidosis 2 (GM2G2) [MIM:268800]
P07686	HEXB_HUMAN	534	C	Y	Disease	GM2-gangliosidosis 2 (GM2G2) [MIM:268800]
P07686	HEXB_HUMAN	504	P	S	Disease	GM2-gangliosidosis 2 (GM2G2) [MIM:268800]
P07686	HEXB_HUMAN	505	R	Q	Disease	GM2-gangliosidosis 2 (GM2G2) [MIM:268800]
P07686	HEXB_HUMAN	456	Y	S	Disease	GM2-gangliosidosis 2 (GM2G2) [MIM:268800]
P07686	HEXB_HUMAN	309	C	Y	Disease	GM2-gangliosidosis 2 (GM2G2) [MIM:268800]
P07686	HEXB_HUMAN	62	S	L	Disease	GM2-gangliosidosis 2 (GM2G2) [MIM:268800]
P07686	HEXB_HUMAN	417	P	L	Disease	GM2-gangliosidosis 2 (GM2G2) [MIM:268800]
P07686	HEXB_HUMAN	255	S	R	Disease	GM2-gangliosidosis 2 (GM2G2) [MIM:268800]
P07737	PROF1_HUMAN	71	C	G	Disease	Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]
P07737	PROF1_HUMAN	117	E	G	Unclassified	Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]
P07737	PROF1_HUMAN	114	M	T	Disease	Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]
P07737	PROF1_HUMAN	118	G	V	Disease	Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]
P07738	PMGE_HUMAN	62	R	Q	Disease	Erythrocytosis, familial, 8 (ECYT8) [MIM:222800]
P07738	PMGE_HUMAN	90	R	C	Disease	Erythrocytosis, familial, 8 (ECYT8) [MIM:222800]
P07741	APT_HUMAN	150	V	F	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
P07741	APT_HUMAN	110	L	P	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
P07741	APT_HUMAN	65	D	V	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
P07741	APT_HUMAN	136	M	T	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
P07741	APT_HUMAN	84	V	M	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
P07741	APT_HUMAN	133	G	D	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
P07741	APT_HUMAN	33	L	P	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
P07741	APT_HUMAN	153	C	R	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
P07741	APT_HUMAN	121	Q	R	Polymorphism	-
P07814	SYEP_HUMAN	893	P	H	Polymorphism	-
P07814	SYEP_HUMAN	1399	T	N	Polymorphism	-
P07814	SYEP_HUMAN	1126	M	T	Unclassified	Leukodystrophy, hypomyelinating, 15 (HLD15) [MIM:617951]
P07814	SYEP_HUMAN	1115	P	R	Disease	Leukodystrophy, hypomyelinating, 15 (HLD15) [MIM:617951]
P07814	SYEP_HUMAN	308	D	E	Polymorphism	-
P07814	SYEP_HUMAN	296	A	P	Polymorphism	-
P07814	SYEP_HUMAN	1107	S	F	Polymorphism	-
P07814	SYEP_HUMAN	913	E	G	Polymorphism	-
P07814	SYEP_HUMAN	1160	P	S	Unclassified	Leukodystrophy, hypomyelinating, 15 (HLD15) [MIM:617951]
P07814	SYEP_HUMAN	334	Q	H	Polymorphism	-
P07814	SYEP_HUMAN	1043	I	V	Polymorphism	-
P07858	CATB_HUMAN	91	P	L	Polymorphism	-
P07858	CATB_HUMAN	235	S	N	Polymorphism	-
P07858	CATB_HUMAN	26	L	V	Polymorphism	-
P07858	CATB_HUMAN	53	S	G	Polymorphism	-
P07864	LDHC_HUMAN	285	E	Q	Polymorphism	-
P07902	GALT_HUMAN	28	D	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	132	H	Q	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	229	K	N	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	204	R	P	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	272	R	G	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	34	Y	N	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	294	F	Y	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	179	G	D	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	227	L	P	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	168	V	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	81	A	T	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	195	L	P	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	98	D	N	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	181	S	A	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	23	T	A	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	317	Q	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	184	H	Q	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	170	I	T	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	252	Q	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	118	Q	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	97	N	S	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	51	R	Q	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	135	S	W	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	201	R	C	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	319	H	Q	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	194	F	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	151	V	A	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	74	L	P	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	117	F	S	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	192	S	N	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	265	P	A	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	112	S	R	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	129	M	T	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	192	S	G	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	231	R	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	209	Y	S	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	154	W	G	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	183	P	T	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	209	Y	C	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	123	R	G	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	33	R	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	113	D	N	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	103	Q	R	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	259	R	Q	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	185	P	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	9	Q	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	45	S	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	308	E	K	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	249	W	R	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	212	Q	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	262	R	P	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	314	N	D	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	148	R	Q	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	127	K	E	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	114	H	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	334	K	R	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	38	Q	P	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	188	Q	R	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	171	F	S	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	223	R	S	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	51	R	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	32	I	N	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	150	V	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	258	R	C	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	44	V	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	345	A	D	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	251	Y	C	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	217	L	P	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	350	T	A	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	199	A	T	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	142	M	K	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	44	V	M	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	285	K	N	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	198	I	M	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	342	L	I	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	278	I	N	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	220	E	K	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	327	L	P	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	175	G	D	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	167	W	R	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	62	L	M	Polymorphism	-
P07902	GALT_HUMAN	336	M	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	148	R	W	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	201	R	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	130	C	Y	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	67	R	C	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	138	T	M	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	125	V	A	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	89	Y	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	166	P	A	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	181	S	F	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	317	Q	R	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	285	K	R	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	333	R	Q	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	333	R	G	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	226	L	P	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	289	L	R	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	185	P	S	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	291	E	V	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	330	A	V	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	244	P	S	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	259	R	W	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	123	R	Q	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	267	L	R	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	333	R	W	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	323	Y	D	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	333	R	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	132	H	Y	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	83	G	V	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	231	R	C	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	198	I	T	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	55	G	C	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	139	L	P	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	329	S	F	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	324	P	S	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	282	L	V	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	289	L	F	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	148	R	G	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	143	S	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	325	P	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	203	E	K	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	142	M	V	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	344	Q	K	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	135	S	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	328	R	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	28	D	Y	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	267	L	V	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	291	E	K	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	323	Y	H	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	185	P	L	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	251	Y	S	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	320	A	T	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	142	M	T	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	33	R	P	Disease	Galactosemia (GALCT) [MIM:230400]
P07902	GALT_HUMAN	271	E	D	Disease	Galactosemia (GALCT) [MIM:230400]
P07911	UROM_HUMAN	135	C	S	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	255	C	Y	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	236	P	Q	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	458	V	L	Polymorphism	-
P07911	UROM_HUMAN	103	G	C	Disease	Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]
P07911	UROM_HUMAN	148	C	Y	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	316	Q	P	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	59	D	A	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	185	R	S	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	248	C	W	Disease	Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]
P07911	UROM_HUMAN	461	A	E	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	170	C	Y	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	109	V	E	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	202	W	S	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	155	C	R	Unclassified	-
P07911	UROM_HUMAN	112	C	R	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	120	C	G	Disease	Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]
P07911	UROM_HUMAN	195	C	F	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	217	C	R	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	77	C	Y	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	52	C	W	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	282	C	R	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	204	R	G	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	128	N	S	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	236	P	L	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	230	W	R	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	222	R	P	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	317	C	Y	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	217	C	G	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	225	T	M	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	347	C	G	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	126	C	R	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	315	C	R	Disease	Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI) [MIM:609886]
P07911	UROM_HUMAN	236	P	R	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	248	C	W	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	148	C	W	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	150	C	S	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	225	T	K	Disease	Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]
P07911	UROM_HUMAN	223	C	Y	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07911	UROM_HUMAN	300	C	G	Disease	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]
P07919	QCR6_HUMAN	51	E	Q	Polymorphism	-
P07942	LAMB1_HUMAN	379	P	S	Polymorphism	-
P07942	LAMB1_HUMAN	860	G	S	Polymorphism	-
P07942	LAMB1_HUMAN	1022	Q	R	Polymorphism	-
P07942	LAMB1_HUMAN	670	V	A	Polymorphism	-
P07947	YES_HUMAN	198	I	V	Polymorphism	-
P07947	YES_HUMAN	282	K	R	Polymorphism	-
P07948	LYN_HUMAN	385	D	Y	Unclassified	A breast pleomorphic lobular carcinoma sample
P07949	RET_HUMAN	634	C	W	Disease	Pheochromocytoma (PCC) [MIM:171300]
P07949	RET_HUMAN	360	R	Q	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	907	K	E	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	278	T	A	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	804	V	L	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	634	C	W	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	893	F	L	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	922	S	F	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	67	R	H	Disease	Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
P07949	RET_HUMAN	330	R	Q	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	180	R	P	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	918	M	T	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	155	P	L	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	114	R	C	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	394	N	H	Unclassified	-
P07949	RET_HUMAN	432	A	E	Disease	Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
P07949	RET_HUMAN	641	A	G	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	634	C	S	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	634	C	S	Disease	Pheochromocytoma (PCC) [MIM:171300]
P07949	RET_HUMAN	897	R	Q	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	1067	P	S	Unclassified	-
P07949	RET_HUMAN	174	F	S	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	399	P	L	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	980	M	T	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	804	V	M	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	1064	M	T	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	620	C	W	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	620	C	S	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	844	R	L	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	634	C	R	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	634	C	S	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	767	S	R	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	393	F	L	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	609	C	Y	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	618	C	S	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	489	D	N	Polymorphism	-
P07949	RET_HUMAN	972	R	G	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	946	T	M	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	765	S	P	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	894	G	S	Unclassified	-
P07949	RET_HUMAN	300	D	N	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	175	R	P	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	198	P	T	Unclassified	-
P07949	RET_HUMAN	634	C	W	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	634	C	R	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	873	R	Q	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	77	R	C	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	618	C	Y	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	197	C	Y	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	40	L	P	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	620	C	R	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	973	P	L	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	157	C	Y	Unclassified	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	397	V	M	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	353	D	Y	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	778	V	I	Unclassified	-
P07949	RET_HUMAN	691	G	S	Polymorphism	-
P07949	RET_HUMAN	634	C	Y	Disease	Pheochromocytoma (PCC) [MIM:171300]
P07949	RET_HUMAN	768	E	D	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	690	S	P	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	620	C	R	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	114	R	H	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	630	C	F	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	620	C	S	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	830	G	R	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	1061	L	P	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	639	A	G	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	611	C	R	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	618	C	S	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	475	R	Q	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	634	C	R	Disease	Pheochromocytoma (PCC) [MIM:171300]
P07949	RET_HUMAN	634	C	G	Disease	Pheochromocytoma (PCC) [MIM:171300]
P07949	RET_HUMAN	618	C	Y	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	620	C	Y	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	1112	F	Y	Unclassified	A bladder transitional cell carcinoma sample
P07949	RET_HUMAN	360	R	W	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	826	Y	S	Polymorphism	-
P07949	RET_HUMAN	626	Q	K	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	618	C	S	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	791	Y	F	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	1049	P	L	Unclassified	-
P07949	RET_HUMAN	790	L	F	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	634	C	F	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	618	C	F	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	630	C	F	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	620	C	G	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	620	C	F	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	620	C	G	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	480	E	K	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	694	R	Q	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	982	R	C	Polymorphism	-
P07949	RET_HUMAN	620	C	W	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	946	T	M	Disease	Multiple neoplasia 2B (MEN2B) [MIM:162300]
P07949	RET_HUMAN	20	P	L	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	339	S	L	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	630	C	S	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	376	V	A	Unclassified	-
P07949	RET_HUMAN	630	C	Y	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	412	V	M	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	634	C	Y	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	231	R	H	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	783	N	S	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	64	P	L	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	618	C	F	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	1052	L	V	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	611	C	S	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	791	Y	F	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	316	S	I	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	1039	P	L	Disease	Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
P07949	RET_HUMAN	114	R	H	Disease	Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
P07949	RET_HUMAN	609	C	Y	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	634	C	F	Disease	Pheochromocytoma (PCC) [MIM:171300]
P07949	RET_HUMAN	32	S	L	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	620	C	R	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	93	G	S	Unclassified	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	1062	Y	C	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	618	C	G	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	883	A	F	Disease	Multiple neoplasia 2B (MEN2B) [MIM:162300]
P07949	RET_HUMAN	631	D	G	Unclassified	Thyroid carcinoma
P07949	RET_HUMAN	921	E	K	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	640	A	G	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	278	T	P	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	813	R	Q	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	359	N	K	Unclassified	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	600	R	Q	Polymorphism	-
P07949	RET_HUMAN	611	C	W	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	618	C	R	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	287	R	Q	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	618	C	R	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	278	T	N	Polymorphism	-
P07949	RET_HUMAN	595	E	Q	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	891	S	A	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	1039	P	Q	Polymorphism	-
P07949	RET_HUMAN	918	M	T	Disease	Multiple neoplasia 2B (MEN2B) [MIM:162300]
P07949	RET_HUMAN	791	Y	F	Disease	Pheochromocytoma (PCC) [MIM:171300]
P07949	RET_HUMAN	790	L	F	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	609	C	Y	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	142	C	S	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	292	V	M	Unclassified	-
P07949	RET_HUMAN	163	R	Q	Unclassified	A colorectal adenocarcinoma sample
P07949	RET_HUMAN	423	G	R	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	961	F	L	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	609	C	G	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	145	V	G	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	251	E	K	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	611	C	G	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	593	G	E	Unclassified	A colorectal cancer sample
P07949	RET_HUMAN	791	Y	F	Disease	Medullary thyroid carcinoma (MTC) [MIM:155240]
P07949	RET_HUMAN	634	C	G	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	634	C	Y	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	394	N	K	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	907	K	T	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	762	E	Q	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	609	C	R	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	679	P	L	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	749	R	T	Polymorphism	-
P07949	RET_HUMAN	618	C	R	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	620	C	F	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	611	C	W	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	611	C	Y	Disease	Multiple neoplasia 2A (MEN2A) [MIM:171400]
P07949	RET_HUMAN	609	C	W	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07949	RET_HUMAN	922	S	Y	Polymorphism	-
P07949	RET_HUMAN	313	R	Q	Disease	Hirschsprung disease 1 (HSCR1) [MIM:142623]
P07951	TPM2_HUMAN	3	A	G	Disease	Nemaline myopathy 4 (NEM4) [MIM:609285]
P07951	TPM2_HUMAN	117	E	A	Disease	Nemaline myopathy 4 (NEM4) [MIM:609285]
P07951	TPM2_HUMAN	147	Q	P	Disease	Nemaline myopathy 4 (NEM4) [MIM:609285]
P07951	TPM2_HUMAN	117	E	K	Disease	Arthrogryposis, distal, 1A (DA1A) [MIM:108120]
P07951	TPM2_HUMAN	202	N	K	Disease	Cap myopathy 2 (CAPM2) [MIM:609285]
P07951	TPM2_HUMAN	14	D	V	Disease	Nemaline myopathy 4 (NEM4) [MIM:609285]
P07951	TPM2_HUMAN	93	Q	H	Disease	-
P07951	TPM2_HUMAN	148	L	P	Disease	Nemaline myopathy 4 (NEM4) [MIM:609285]
P07951	TPM2_HUMAN	133	R	W	Disease	Arthrogryposis, distal, 1A (DA1A) [MIM:108120]
P07951	TPM2_HUMAN	133	R	P	Disease	-
P07951	TPM2_HUMAN	2	D	V	Disease	-
P07951	TPM2_HUMAN	261	Y	C	Disease	Arthrogryposis, distal, 1A (DA1A) [MIM:108120]
P07951	TPM2_HUMAN	155	A	T	Disease	-
P07951	TPM2_HUMAN	143	L	P	Disease	Nemaline myopathy 4 (NEM4) [MIM:609285]
P07951	TPM2_HUMAN	41	E	K	Disease	Nemaline myopathy 4 (NEM4) [MIM:609285]
P07951	TPM2_HUMAN	133	R	W	Disease	Arthrogryposis, distal, 2B (DA2B) [MIM:601680]
P07951	TPM2_HUMAN	128	K	E	Disease	-
P07951	TPM2_HUMAN	93	Q	R	Disease	Arthrogryposis, distal, 1A (DA1A) [MIM:108120]
P07951	TPM2_HUMAN	273	E	K	Polymorphism	-
P07951	TPM2_HUMAN	133	R	W	Disease	Nemaline myopathy 4 (NEM4) [MIM:609285]
P07951	TPM2_HUMAN	91	R	G	Disease	Arthrogryposis, distal, 1A (DA1A) [MIM:108120]
P07954	FUMH_HUMAN	180	H	R	Disease	Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
P07954	FUMH_HUMAN	282	G	V	Disease	Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
P07954	FUMH_HUMAN	107	N	T	Disease	Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
P07954	FUMH_HUMAN	312	F	C	Disease	Fumarase deficiency (FMRD) [MIM:606812]
P07954	FUMH_HUMAN	233	R	H	Disease	Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
P07954	FUMH_HUMAN	362	E	Q	Disease	Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
P07954	FUMH_HUMAN	425	D	V	Disease	Fumarase deficiency (FMRD) [MIM:606812]
P07954	FUMH_HUMAN	328	M	R	Disease	Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
P07954	FUMH_HUMAN	117	A	P	Disease	Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
P07954	FUMH_HUMAN	230	K	R	Disease	Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
P07954	FUMH_HUMAN	185	Q	R	Disease	Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
P07954	FUMH_HUMAN	308	A	T	Disease	Fumarase deficiency (FMRD) [MIM:606812]
P07954	FUMH_HUMAN	230	K	R	Disease	Fumarase deficiency (FMRD) [MIM:606812]
P07988	PSPB_HUMAN	131	T	I	Polymorphism	-
P07988	PSPB_HUMAN	176	L	F	Polymorphism	-
P07988	PSPB_HUMAN	272	R	H	Polymorphism	-
P07988	PSPB_HUMAN	228	A	R	Unclassified	-
P07988	PSPB_HUMAN	236	R	C	Disease	Pulmonary surfactant metabolism dysfunction 1 (SMDP1) [MIM:265120]
P07988	PSPB_HUMAN	228	A	I	Unclassified	-
P07992	ERCC1_HUMAN	231	F	L	Disease	Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758]
P07992	ERCC1_HUMAN	266	A	T	Polymorphism	-
P07996	TSP1_HUMAN	523	T	A	Polymorphism	-
P07996	TSP1_HUMAN	700	N	S	Polymorphism	-
P07996	TSP1_HUMAN	24	S	A	Polymorphism	-
P08034	CXB1_HUMAN	159	G	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	177	V	A	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	77	W	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	220	R	G	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	160	Y	H	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	208	E	G	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	205	N	I	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	164	R	Q	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	177	V	E	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	172	P	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	127	I	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	81	L	F	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	161	A	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	211	Y	H	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	201	C	Y	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	182	S	T	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	50	S	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	53	C	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	136	V	A	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	80	Q	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	230	R	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	147	A	D	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	138	S	N	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	238	R	H	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	86	T	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	183	R	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	120	V	E	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	75	R	W	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	127	I	M	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	153	F	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	164	R	W	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	131	L	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	58	P	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	85	S	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	230	R	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	102	E	G	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	194	M	V	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	35	V	M	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	87	P	A	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	204	L	V	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	87	P	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	75	R	Q	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	126	H	Y	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	208	E	K	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	83	L	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	84	V	I	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	219	R	H	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	85	S	F	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	235	F	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	146	E	K	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	64	C	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	107	R	W	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	151	Y	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	65	Y	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	183	R	H	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	158	P	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	158	P	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	215	R	W	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	56	L	F	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	172	P	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	59	G	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	142	R	Q	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	86	T	A	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	193	F	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	86	T	N	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	181	V	M	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	184	P	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	65	Y	H	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	22	R	G	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	89	L	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	159	G	D	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	172	P	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	239	L	I	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	173	C	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	175	N	D	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	103	K	E	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	100	H	Y	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	34	M	V	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	91	V	M	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	94	H	D	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	87	P	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	125	V	D	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	43	V	M	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	44	W	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	49	S	Y	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	219	R	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	172	P	A	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	130	T	I	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	135	Y	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	60	C	F	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	63	V	I	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	149	F	V	Unclassified	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	55	T	I	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	156	L	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	75	R	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	3	W	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	7	Y	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	136	V	A	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P08034	CXB1_HUMAN	168	C	Y	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	93	M	V	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	8	T	I	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	9	L	W	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	178	D	Y	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	192	V	F	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	179	C	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	191	T	A	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	30	I	T	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	21	G	D	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	108	L	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	34	M	I	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	213	I	V	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	215	R	Q	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	90	L	H	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	94	H	Q	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	124	K	E	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	280	C	G	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	189	V	G	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	57	Q	H	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	198	S	F	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	70	P	A	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	124	K	N	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	3	W	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	133	W	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	205	N	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	157	Y	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	40	A	V	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	168	C	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	133	W	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	11	S	G	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	142	R	E	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	142	R	W	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	141	F	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	156	L	F	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	149	F	I	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	20	I	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	128	S	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	158	P	A	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	22	R	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	201	C	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	186	E	K	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	8	T	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	189	V	I	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	180	F	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	181	V	A	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	28	I	N	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	180	F	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	16	H	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	90	L	V	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	15	R	Q	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	41	E	K	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	204	L	F	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	193	F	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	37	V	M	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	187	K	E	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	183	R	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	69	F	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	94	H	Y	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	55	T	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	30	I	N	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	203	I	N	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	14	N	K	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	199	G	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	104	K	T	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	40	A	T	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	264	R	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	12	G	S	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	184	P	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	25	L	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	26	S	W	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	29	F	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	139	V	M	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	39	A	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	39	A	V	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	49	S	P	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	13	V	M	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	34	M	K	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	59	G	R	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	34	M	T	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	95	V	M	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	13	V	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	64	C	F	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	38	V	M	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	15	R	W	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	26	S	L	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	25	L	F	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	22	R	Q	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	23	V	A	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	28	I	T	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	24	W	C	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08034	CXB1_HUMAN	55	T	A	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
P08047	SP1_HUMAN	737	T	A	Polymorphism	-
P08069	IGF1R_HUMAN	1337	R	C	Disease	Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
P08069	IGF1R_HUMAN	605	R	H	Polymorphism	-
P08069	IGF1R_HUMAN	145	K	N	Disease	Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
P08069	IGF1R_HUMAN	388	V	M	Polymorphism	-
P08069	IGF1R_HUMAN	138	R	Q	Disease	Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
P08069	IGF1R_HUMAN	808	H	R	Polymorphism	-
P08069	IGF1R_HUMAN	828	A	T	Polymorphism	-
P08069	IGF1R_HUMAN	1256	R	S	Disease	Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
P08069	IGF1R_HUMAN	437	R	H	Polymorphism	-
P08069	IGF1R_HUMAN	511	R	Q	Polymorphism	-
P08069	IGF1R_HUMAN	1338	A	T	Polymorphism	-
P08069	IGF1R_HUMAN	359	N	Y	Disease	Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
P08069	IGF1R_HUMAN	1347	A	V	Unclassified	A lung squamous cell carcinoma sample
P08069	IGF1R_HUMAN	739	R	Q	Disease	Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
P08069	IGF1R_HUMAN	857	N	S	Polymorphism	-
P08069	IGF1R_HUMAN	595	R	H	Polymorphism	-
P08069	IGF1R_HUMAN	105	V	L	Unclassified	-
P08069	IGF1R_HUMAN	865	Y	C	Disease	Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
P08100	OPSD_HUMAN	207	M	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	267	P	L	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	345	V	M	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	292	A	E	Disease	Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]
P08100	OPSD_HUMAN	216	M	K	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	135	R	L	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	211	H	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	296	K	E	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	267	P	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	58	T	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	180	P	S	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	90	G	D	Disease	Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]
P08100	OPSD_HUMAN	220	F	C	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	214	I	N	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	167	C	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	190	D	G	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	106	G	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	347	P	L	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	17	T	M	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	51	G	A	Polymorphism	-
P08100	OPSD_HUMAN	171	P	L	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	211	H	P	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	89	G	D	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	347	P	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	45	F	L	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	178	Y	C	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	188	G	E	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	188	G	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	222	C	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	347	P	Q	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	40	L	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	46	L	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	51	G	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	114	G	D	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	164	A	E	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	342	T	M	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	150	E	K	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	135	R	G	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	182	G	S	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	23	P	H	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	186	S	P	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	28	Q	H	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	178	Y	N	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	131	L	P	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	110	C	Y	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	106	G	W	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	4	T	K	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	345	V	L	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	135	R	W	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	190	D	N	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	127	S	F	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	297	S	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	171	P	Q	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	171	P	S	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	109	G	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	347	P	S	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	110	C	F	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	190	D	Y	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	164	A	V	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	104	V	I	Unclassified	-
P08100	OPSD_HUMAN	209	V	M	Unclassified	-
P08100	OPSD_HUMAN	181	E	K	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	87	V	D	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	140	C	S	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	53	P	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	44	M	T	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	347	P	A	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	51	G	V	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	15	N	S	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	23	P	L	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	125	L	R	Disease	Retinitis pigmentosa 4 (RP4) [MIM:613731]
P08100	OPSD_HUMAN	94	T	I	Disease	Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]
P08118	MSMB_HUMAN	52	W	R	Polymorphism	-
P08118	MSMB_HUMAN	91	E	G	Polymorphism	-
P08118	MSMB_HUMAN	87	I	T	Polymorphism	-
P08118	MSMB_HUMAN	25	I	M	Polymorphism	-
P08118	MSMB_HUMAN	92	D	G	Polymorphism	-
P08118	MSMB_HUMAN	80	D	A	Polymorphism	-
P08118	MSMB_HUMAN	17	L	S	Polymorphism	-
P08118	MSMB_HUMAN	98	V	L	Polymorphism	-
P08118	MSMB_HUMAN	53	Q	R	Polymorphism	-
P08123	CO1A2_HUMAN	1067	R	H	Polymorphism	-
P08123	CO1A2_HUMAN	751	G	S	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	670	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	787	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	982	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	892	G	D	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	592	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	715	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	460	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	997	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	754	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	276	A	T	Polymorphism	-
P08123	CO1A2_HUMAN	586	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	796	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	784	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	708	R	Q	Unclassified	-
P08123	CO1A2_HUMAN	634	G	V	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	778	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	256	G	V	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	1012	G	S	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	328	G	S	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P08123	CO1A2_HUMAN	1066	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	822	R	H	Polymorphism	-
P08123	CO1A2_HUMAN	949	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	676	G	D	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	337	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	562	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	640	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	337	G	C	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	549	P	A	Polymorphism	-
P08123	CO1A2_HUMAN	562	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	325	G	E	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	59	T	P	Polymorphism	-
P08123	CO1A2_HUMAN	1012	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	1022	L	F	Polymorphism	-
P08123	CO1A2_HUMAN	991	G	V	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	1119	A	T	Unclassified	-
P08123	CO1A2_HUMAN	766	G	V	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	625	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	676	G	V	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	349	G	C	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	511	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	517	G	R	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	211	G	D	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P08123	CO1A2_HUMAN	856	G	R	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	564	A	T	Polymorphism	-
P08123	CO1A2_HUMAN	835	G	C	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	528	N	S	Polymorphism	-
P08123	CO1A2_HUMAN	1096	G	A	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	1027	G	E	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	676	G	V	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	736	G	C	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P08123	CO1A2_HUMAN	895	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	526	G	E	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	547	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	249	I	N	Polymorphism	-
P08123	CO1A2_HUMAN	955	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	247	G	R	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P08123	CO1A2_HUMAN	202	G	R	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	1189	D	E	Polymorphism	-
P08123	CO1A2_HUMAN	409	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	820	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	955	G	S	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	1003	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	739	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	1148	T	P	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	637	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	457	G	L	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	877	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	835	G	S	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P08123	CO1A2_HUMAN	483	A	V	Polymorphism	-
P08123	CO1A2_HUMAN	334	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	234	R	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	678	P	H	Polymorphism	-
P08123	CO1A2_HUMAN	1102	G	R	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	397	G	E	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	790	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	1195	C	Y	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P08123	CO1A2_HUMAN	892	G	D	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	344	L	V	Polymorphism	-
P08123	CO1A2_HUMAN	1078	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	601	G	S	Polymorphism	-
P08123	CO1A2_HUMAN	733	G	C	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P08123	CO1A2_HUMAN	283	G	R	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	253	G	D	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	454	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	1101	P	L	Polymorphism	-
P08123	CO1A2_HUMAN	331	G	D	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	743	A	G	Polymorphism	-
P08123	CO1A2_HUMAN	730	G	C	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	270	V	I	Polymorphism	-
P08123	CO1A2_HUMAN	1198	S	P	Polymorphism	-
P08123	CO1A2_HUMAN	1087	G	D	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	433	G	E	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	1354	Q	H	Polymorphism	-
P08123	CO1A2_HUMAN	754	G	C	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	748	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	358	G	S	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08123	CO1A2_HUMAN	856	G	V	Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P08123	CO1A2_HUMAN	193	G	S	Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P08123	CO1A2_HUMAN	319	G	R	Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P08123	CO1A2_HUMAN	973	G	V	Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P08134	RHOC_HUMAN	120	D	H	Polymorphism	-
P08138	TNR16_HUMAN	205	S	L	Polymorphism	-
P08151	GLI1_HUMAN	514	T	I	Unclassified	A breast cancer sample
P08151	GLI1_HUMAN	1100	E	Q	Polymorphism	-
P08151	GLI1_HUMAN	933	G	D	Polymorphism	-
P08151	GLI1_HUMAN	817	E	Q	Unclassified	A breast cancer sample
P08151	GLI1_HUMAN	1012	G	V	Polymorphism	-
P08151	GLI1_HUMAN	210	P	A	Unclassified	A breast cancer sample
P08151	GLI1_HUMAN	884	D	A	Polymorphism	-
P08174	DAF_HUMAN	199	S	L	Polymorphism	-
P08174	DAF_HUMAN	267	C	S	Disease	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) [MIM:226300]
P08174	DAF_HUMAN	227	A	P	Polymorphism	-
P08174	DAF_HUMAN	240	R	H	Polymorphism	-
P08174	DAF_HUMAN	82	L	R	Polymorphism	-
P08174	DAF_HUMAN	52	R	L	Polymorphism	-
P08174	DAF_HUMAN	52	R	P	Polymorphism	-
P08183	MDR1_HUMAN	1051	P	A	Polymorphism	-
P08183	MDR1_HUMAN	893	S	A	Polymorphism	-
P08183	MDR1_HUMAN	80	A	E	Polymorphism	-
P08183	MDR1_HUMAN	44	N	S	Polymorphism	-
P08183	MDR1_HUMAN	893	S	T	Polymorphism	-
P08183	MDR1_HUMAN	261	I	V	Polymorphism	-
P08183	MDR1_HUMAN	801	V	M	Polymorphism	-
P08183	MDR1_HUMAN	669	R	C	Polymorphism	-
P08183	MDR1_HUMAN	593	R	C	Polymorphism	-
P08183	MDR1_HUMAN	999	A	T	Polymorphism	-
P08183	MDR1_HUMAN	400	S	N	Polymorphism	-
P08183	MDR1_HUMAN	887	K	N	Unclassified	A colorectal cancer sample
P08183	MDR1_HUMAN	986	M	V	Polymorphism	-
P08183	MDR1_HUMAN	599	A	T	Polymorphism	-
P08183	MDR1_HUMAN	836	I	V	Polymorphism	-
P08183	MDR1_HUMAN	21	N	D	Polymorphism	-
P08183	MDR1_HUMAN	829	I	V	Polymorphism	-
P08183	MDR1_HUMAN	1251	V	I	Polymorphism	-
P08183	MDR1_HUMAN	1141	S	T	Polymorphism	-
P08183	MDR1_HUMAN	108	E	K	Polymorphism	-
P08183	MDR1_HUMAN	17	F	L	Polymorphism	-
P08183	MDR1_HUMAN	103	F	L	Polymorphism	-
P08183	MDR1_HUMAN	185	G	V	Polymorphism	-
P08183	MDR1_HUMAN	566	E	K	Polymorphism	-
P08183	MDR1_HUMAN	1107	Q	P	Polymorphism	-
P08185	CBG_HUMAN	115	L	H	Disease	Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]
P08185	CBG_HUMAN	246	S	A	Polymorphism	-
P08185	CBG_HUMAN	389	D	N	Disease	Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]
P08217	CEL2A_HUMAN	257	N	S	Polymorphism	-
P08218	CEL2B_HUMAN	114	D	N	Polymorphism	-
P08218	CEL2B_HUMAN	235	G	S	Polymorphism	-
P08218	CEL2B_HUMAN	177	Q	R	Polymorphism	-
P08218	CEL2B_HUMAN	79	G	R	Polymorphism	-
P08235	MCR_HUMAN	805	S	P	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	776	Q	R	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	645	C	S	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	826	F	Y	Polymorphism	-
P08235	MCR_HUMAN	769	L	P	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	180	V	I	Polymorphism	-
P08235	MCR_HUMAN	7	H	Q	Unclassified	A colorectal cancer sample
P08235	MCR_HUMAN	633	G	R	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	979	L	P	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	759	P	S	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	537	R	Q	Polymorphism	-
P08235	MCR_HUMAN	770	N	K	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	241	V	A	Polymorphism	-
P08235	MCR_HUMAN	554	N	S	Polymorphism	-
P08235	MCR_HUMAN	818	S	L	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	659	R	S	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	924	L	P	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	444	N	T	Polymorphism	-
P08235	MCR_HUMAN	815	S	R	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235	MCR_HUMAN	810	S	L	Disease	Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115]
P08235	MCR_HUMAN	972	E	G	Disease	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08236	BGLR_HUMAN	216	R	W	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	354	A	V	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	649	L	P	Polymorphism	-
P08236	BGLR_HUMAN	382	R	C	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	38	C	G	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	52	S	F	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	243	L	P	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	350	K	N	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	320	Y	S	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	611	R	W	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	176	L	F	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	540	E	K	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	364	P	L	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	339	N	S	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	362	D	N	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	619	A	V	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	320	Y	C	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	152	D	N	Polymorphism	-
P08236	BGLR_HUMAN	148	P	S	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	607	G	A	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	374	R	C	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	627	W	C	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	495	Y	C	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	150	E	K	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	152	D	G	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	435	R	P	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	30	P	S	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	577	R	L	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	136	G	R	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	351	H	Y	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	606	K	N	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	415	P	L	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	382	R	H	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	408	P	S	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	508	Y	C	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	477	R	W	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	376	L	F	Polymorphism	-
P08236	BGLR_HUMAN	626	Y	H	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08236	BGLR_HUMAN	572	G	D	Disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]
P08237	PFKAM_HUMAN	100	R	Q	Polymorphism	-
P08237	PFKAM_HUMAN	180	S	C	Disease	Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237	PFKAM_HUMAN	686	W	C	Disease	Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237	PFKAM_HUMAN	309	D	G	Disease	Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237	PFKAM_HUMAN	696	R	H	Polymorphism	-
P08237	PFKAM_HUMAN	543	D	A	Disease	Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237	PFKAM_HUMAN	591	D	A	Disease	Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237	PFKAM_HUMAN	209	G	D	Disease	Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237	PFKAM_HUMAN	57	G	V	Disease	Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237	PFKAM_HUMAN	39	R	L	Disease	Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237	PFKAM_HUMAN	39	R	P	Disease	Glycogen storage disease 7 (GSD7) [MIM:232800]
P08238	HS90B_HUMAN	349	K	E	Polymorphism	-
P08243	ASNS_HUMAN	550	R	C	Disease	Asparagine synthetase deficiency (ASNSD) [MIM:615574]
P08243	ASNS_HUMAN	6	A	E	Disease	Asparagine synthetase deficiency (ASNSD) [MIM:615574]
P08243	ASNS_HUMAN	362	F	V	Disease	Asparagine synthetase deficiency (ASNSD) [MIM:615574]
P08243	ASNS_HUMAN	210	V	E	Polymorphism	-
P08246	ELNE_HUMAN	210	G	V	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	60	I	T	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	57	A	V	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	45	V	L	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	44	M	R	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	46	S	C	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	126	S	L	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	46	S	F	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	47	L	P	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	101	V	M	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	203	G	C	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	57	A	S	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	61	A	V	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	98	V	L	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	214	G	R	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	45	V	E	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	151	C	W	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	43	F	L	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	139	P	L	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	46	S	F	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	156	W	C	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	206	L	F	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	153	A	P	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	61	A	V	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	153	A	D	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	156	W	R	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	152	L	P	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	262	P	L	Polymorphism	-
P08246	ELNE_HUMAN	257	P	L	Polymorphism	-
P08246	ELNE_HUMAN	126	S	L	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	151	C	Y	Unclassified	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	136	A	D	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	203	G	R	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	139	P	L	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	220	R	Q	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	67	S	W	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	56	G	R	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	25	A	V	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	47	L	R	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	53	H	L	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	219	V	I	Unclassified	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	205	P	R	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	59	L	P	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	151	C	S	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	97	Q	L	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	118	I	V	Polymorphism	-
P08246	ELNE_HUMAN	55	C	S	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	55	C	Y	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	208	C	G	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	53	H	Y	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	53	H	Q	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	235	V	E	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	49	L	P	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	203	G	C	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	151	C	F	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	103	R	L	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	125	G	R	Polymorphism	-
P08246	ELNE_HUMAN	121	L	P	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	57	A	T	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	103	R	P	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	120	I	F	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	209	N	I	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	104	I	N	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	85	G	R	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	124	N	I	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	80	V	G	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	123	L	H	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	71	C	S	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	219	V	I	Unclassified	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	42	P	L	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	43	F	L	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	71	C	R	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	85	G	E	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	143	R	H	Unclassified	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	120	I	S	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	71	C	F	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	233	A	P	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	81	R	P	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	81	R	P	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	135	V	M	Polymorphism	-
P08246	ELNE_HUMAN	206	L	S	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	127	A	D	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	139	P	R	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	120	I	F	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	235	V	G	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	72	V	G	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	210	G	W	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	127	A	P	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	220	R	Q	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	214	G	E	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	71	C	Y	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	82	V	M	Disease	Cyclic haematopoiesis (CH) [MIM:162800]
P08246	ELNE_HUMAN	166	A	T	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	82	V	M	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	120	I	N	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	101	V	L	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	131	A	T	Unclassified	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	84	L	P	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08246	ELNE_HUMAN	98	V	M	Disease	Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
P08247	SYPH_HUMAN	293	G	S	Unclassified	Mental retardation, X-linked 96 (MRX96) [MIM:300802]
P08247	SYPH_HUMAN	248	D	N	Polymorphism	-
P08247	SYPH_HUMAN	72	E	Q	Polymorphism	-
P08247	SYPH_HUMAN	158	S	L	Polymorphism	-
P08247	SYPH_HUMAN	217	G	R	Disease	Mental retardation, X-linked 96 (MRX96) [MIM:300802]
P08247	SYPH_HUMAN	277	D	E	Unclassified	Mental retardation, X-linked 96 (MRX96) [MIM:300802]
P08247	SYPH_HUMAN	166	D	N	Polymorphism	-
P08247	SYPH_HUMAN	2	L	Q	Polymorphism	-
P08253	MMP2_HUMAN	644	S	I	Unclassified	A colorectal cancer sample
P08253	MMP2_HUMAN	101	R	H	Disease	Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600]
P08253	MMP2_HUMAN	621	V	L	Polymorphism	-
P08253	MMP2_HUMAN	210	D	Y	Polymorphism	-
P08253	MMP2_HUMAN	404	E	K	Disease	Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600]
P08253	MMP2_HUMAN	498	T	M	Unclassified	A colorectal cancer sample
P08253	MMP2_HUMAN	228	A	T	Unclassified	A colorectal cancer sample
P08253	MMP2_HUMAN	447	A	V	Polymorphism	-
P08254	MMP3_HUMAN	45	K	E	Polymorphism	-
P08263	GSTA1_HUMAN	19	T	I	Polymorphism	-
P08263	GSTA1_HUMAN	113	P	Q	Polymorphism	-
P08263	GSTA1_HUMAN	117	K	Q	Polymorphism	-
P08294	SODE_HUMAN	231	R	G	Polymorphism	-
P08294	SODE_HUMAN	58	A	T	Polymorphism	-
P08294	SODE_HUMAN	91	A	T	Polymorphism	-
P08311	CATG_HUMAN	125	N	S	Polymorphism	-
P08319	ADH4_HUMAN	318	R	H	Polymorphism	-
P08319	ADH4_HUMAN	309	I	V	Polymorphism	-
P08319	ADH4_HUMAN	374	V	I	Polymorphism	-
P08397	HEM3_HUMAN	167	R	Q	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	244	L	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	250	E	V	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	119	P	L	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	177	L	R	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	173	R	Q	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	167	R	W	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	116	R	W	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	173	R	W	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	31	A	T	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	216	G	D	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	55	A	S	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	99	D	N	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	335	G	D	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	250	E	D	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	225	R	Q	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	217	Q	L	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	26	R	H	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	85	L	R	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	98	K	R	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	113	I	T	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	18	M	I	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	195	R	C	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	111	G	R	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	149	R	Q	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	261	C	Y	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	124	V	D	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	90	V	G	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	225	R	G	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	93	V	F	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	215	V	M	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	22	R	C	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	116	R	Q	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	269	T	I	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	215	V	E	Unclassified	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	209	E	K	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	202	V	L	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	32	R	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	223	E	K	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	245	L	R	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	236	G	S	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	212	M	V	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	330	A	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	338	L	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	59	T	I	Unclassified	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	149	R	L	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	26	R	C	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	250	E	A	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	250	E	Q	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	178	D	N	Unclassified	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	24	G	S	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	343	L	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	280	G	R	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	238	L	R	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	122	A	G	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	78	T	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	252	A	V	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	201	R	W	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	247	C	F	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	238	L	P	Unclassified	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	250	E	K	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	132	K	N	Unclassified	-
P08397	HEM3_HUMAN	80	E	G	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	34	Q	K	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	61	D	Y	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	270	A	G	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	270	A	D	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	274	G	R	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	204	Q	K	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	219	A	D	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	256	H	N	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	222	V	M	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	217	Q	H	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	99	D	G	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	278	L	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	267	V	M	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	335	G	S	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	96	S	F	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	99	D	H	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	252	A	T	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	42	L	S	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	247	C	R	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	256	H	Y	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	61	D	N	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	35	T	M	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	86	E	V	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	260	G	D	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	31	A	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	34	Q	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	92	L	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	34	Q	R	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	81	L	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	28	S	N	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08397	HEM3_HUMAN	254	L	P	Disease	Acute intermittent porphyria (AIP) [MIM:176000]
P08473	NEP_HUMAN	143	C	Y	Disease	Spinocerebellar ataxia 43 (SCA43) [MIM:617018]
P08473	NEP_HUMAN	348	A	P	Unclassified	Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:617017]
P08473	NEP_HUMAN	422	A	D	Disease	Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:617017]
P08473	NEP_HUMAN	12	D	A	Unclassified	Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:617017]
P08473	NEP_HUMAN	347	Y	C	Disease	Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:617017]
P08473	NEP_HUMAN	621	C	R	Disease	Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:617017]
P08473	NEP_HUMAN	497	Y	H	Polymorphism	-
P08476	INHBA_HUMAN	280	G	E	Unclassified	-
P08476	INHBA_HUMAN	299	Q	P	Polymorphism	-
P08476	INHBA_HUMAN	386	N	S	Unclassified	-
P08493	MGP_HUMAN	53	K	E	Polymorphism	-
P08493	MGP_HUMAN	102	T	A	Polymorphism	-
P08514	ITA2B_HUMAN	207	T	I	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	139	A	V	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	405	I	T	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	176	P	A	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	214	L	P	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	755	R	P	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	202	F	C	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	1026	R	Q	Disease	Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800]
P08514	ITA2B_HUMAN	934	V	F	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	1026	R	Q	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	380	G	D	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	267	G	E	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	989	A	T	Polymorphism	-
P08514	ITA2B_HUMAN	982	V	M	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	1026	R	W	Disease	Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800]
P08514	ITA2B_HUMAN	412	G	R	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	222	F	L	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	705	C	R	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	313	G	A	Polymorphism	-
P08514	ITA2B_HUMAN	943	P	L	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	161	C	W	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	40	T	I	Polymorphism	-
P08514	ITA2B_HUMAN	957	S	L	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	174	Y	H	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	649	V	L	Polymorphism	-
P08514	ITA2B_HUMAN	874	I	S	Polymorphism	-
P08514	ITA2B_HUMAN	778	Q	P	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	847	L	P	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	752	L	V	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	596	I	T	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	581	A	D	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	176	P	L	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	355	E	K	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	358	R	H	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	329	V	F	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	320	F	S	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	968	Y	N	Polymorphism	-
P08514	ITA2B_HUMAN	86	L	P	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	449	G	D	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08514	ITA2B_HUMAN	273	G	D	Disease	Glanzmann thrombasthenia (GT) [MIM:273800]
P08519	APOA_HUMAN	4330	G	A	Polymorphism	-
P08519	APOA_HUMAN	4524	R	C	Polymorphism	-
P08519	APOA_HUMAN	3907	T	P	Polymorphism	-
P08519	APOA_HUMAN	4187	M	T	Polymorphism	-
P08519	APOA_HUMAN	4193	W	R	Unclassified	-
P08519	APOA_HUMAN	3866	L	V	Polymorphism	-
P08519	APOA_HUMAN	3880	L	V	Polymorphism	-
P08519	APOA_HUMAN	3498	R	Q	Polymorphism	-
P08519	APOA_HUMAN	4106	M	T	Polymorphism	-
P08519	APOA_HUMAN	3929	R	Q	Polymorphism	-
P08519	APOA_HUMAN	4399	I	M	Polymorphism	-
P08559	ODPA_HUMAN	167	V	M	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	162	G	R	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	378	R	H	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	258	D	A	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	210	M	V	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	292	H	L	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	113	H	D	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	217	P	L	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	231	T	A	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	302	R	C	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	288	R	H	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	199	A	T	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	205	F	L	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	282	M	L	Polymorphism	-
P08559	ODPA_HUMAN	263	R	G	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	136	A	T	Disease	-
P08559	ODPA_HUMAN	302	R	H	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	243	Y	N	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	315	D	N	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	72	R	C	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	263	R	Q	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	10	R	P	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559	ODPA_HUMAN	333	E	D	Polymorphism	-
P08567	PLEK_HUMAN	340	R	K	Polymorphism	-
P08567	PLEK_HUMAN	97	K	N	Polymorphism	-
P08567	PLEK_HUMAN	108	K	Q	Polymorphism	-
P08567	PLEK_HUMAN	5	R	W	Polymorphism	-
P08567	PLEK_HUMAN	92	W	R	Polymorphism	-
P08571	CD14_HUMAN	341	E	K	Polymorphism	-
P08571	CD14_HUMAN	204	N	D	Polymorphism	-
P08572	CO4A2_HUMAN	718	P	S	Polymorphism	-
P08572	CO4A2_HUMAN	1037	G	E	Disease	Brain small vessel disease 2 (BSVD2) [MIM:614483]
P08572	CO4A2_HUMAN	683	G	A	Polymorphism	-
P08572	CO4A2_HUMAN	1123	E	G	Polymorphism	-
P08572	CO4A2_HUMAN	1389	G	R	Disease	-
P08572	CO4A2_HUMAN	1690	A	T	Polymorphism	-
P08572	CO4A2_HUMAN	1109	R	Q	Polymorphism	-
P08572	CO4A2_HUMAN	1150	Q	K	Polymorphism	-
P08572	CO4A2_HUMAN	701	K	R	Polymorphism	-
P08572	CO4A2_HUMAN	1399	V	I	Polymorphism	-
P08572	CO4A2_HUMAN	1152	G	D	Disease	Brain small vessel disease 2 (BSVD2) [MIM:614483]
P08572	CO4A2_HUMAN	192	V	F	Polymorphism	-
P08572	CO4A2_HUMAN	517	R	K	Polymorphism	-
P08574	CY1_HUMAN	215	L	F	Disease	Mitochondrial complex III deficiency, nuclear 6 (MC3DN6) [MIM:615453]
P08574	CY1_HUMAN	89	L	V	Polymorphism	-
P08574	CY1_HUMAN	96	W	C	Disease	Mitochondrial complex III deficiency, nuclear 6 (MC3DN6) [MIM:615453]
P08574	CY1_HUMAN	76	M	V	Polymorphism	-
P08575	PTPRC_HUMAN	296	I	L	Polymorphism	-
P08575	PTPRC_HUMAN	423	T	I	Polymorphism	-
P08575	PTPRC_HUMAN	193	T	A	Polymorphism	-
P08575	PTPRC_HUMAN	230	E	A	Unclassified	A breast cancer sample
P08575	PTPRC_HUMAN	865	G	R	Unclassified	A breast cancer sample
P08575	PTPRC_HUMAN	570	H	Q	Polymorphism	-
P08575	PTPRC_HUMAN	1285	S	R	Polymorphism	-
P08579	RU2B_HUMAN	19	K	Q	Unclassified	A colorectal cancer sample
P08581	MET_HUMAN	1195	L	V	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	1294	V	I	Polymorphism	-
P08581	MET_HUMAN	1188	V	L	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	841	F	V	Disease	Deafness, autosomal recessive, 97 (DFNB97) [MIM:616705]
P08581	MET_HUMAN	1250	M	I	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
P08581	MET_HUMAN	1228	D	N	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	991	P	S	Unclassified	Gastric cancer
P08581	MET_HUMAN	1131	M	T	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	316	I	M	Polymorphism	-
P08581	MET_HUMAN	1230	Y	H	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	1228	D	H	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	375	N	K	Unclassified	-
P08581	MET_HUMAN	238	L	S	Polymorphism	-
P08581	MET_HUMAN	1250	M	T	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	1094	H	R	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	375	N	S	Polymorphism	-
P08581	MET_HUMAN	970	R	C	Polymorphism	-
P08581	MET_HUMAN	143	R	Q	Polymorphism	-
P08581	MET_HUMAN	773	P	L	Unclassified	Gastric cancer
P08581	MET_HUMAN	1173	T	I	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
P08581	MET_HUMAN	1106	H	D	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	1220	V	I	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	320	A	V	Polymorphism	-
P08581	MET_HUMAN	1230	Y	C	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	156	S	L	Polymorphism	-
P08581	MET_HUMAN	1092	V	I	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	1094	H	L	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	168	E	D	Polymorphism	-
P08581	MET_HUMAN	992	T	I	Polymorphism	-
P08581	MET_HUMAN	385	C	Y	Polymorphism	-
P08581	MET_HUMAN	1003	Y	S	Disease	-
P08581	MET_HUMAN	150	H	Y	Polymorphism	-
P08581	MET_HUMAN	1094	H	Y	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08581	MET_HUMAN	1244	K	R	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
P08581	MET_HUMAN	1230	Y	D	Disease	Renal cell carcinoma papillary (RCCP) [MIM:605074]
P08582	TRFM_HUMAN	294	R	W	Polymorphism	-
P08582	TRFM_HUMAN	559	A	T	Polymorphism	-
P08588	ADRB1_HUMAN	405	H	Y	Polymorphism	-
P08588	ADRB1_HUMAN	49	S	G	Polymorphism	-
P08588	ADRB1_HUMAN	399	R	H	Polymorphism	-
P08588	ADRB1_HUMAN	29	A	T	Polymorphism	-
P08588	ADRB1_HUMAN	389	R	L	Polymorphism	-
P08588	ADRB1_HUMAN	389	R	G	Polymorphism	-
P08588	ADRB1_HUMAN	26	A	V	Polymorphism	-
P08588	ADRB1_HUMAN	31	R	Q	Polymorphism	-
P08590	MYL3_HUMAN	143	E	K	Disease	Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]
P08590	MYL3_HUMAN	149	M	V	Disease	Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]
P08590	MYL3_HUMAN	177	E	G	Disease	Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]
P08590	MYL3_HUMAN	56	E	G	Disease	Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]
P08590	MYL3_HUMAN	154	R	H	Disease	Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]
P08603	CFAH_HUMAN	1194	G	D	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	400	Q	K	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	959	C	Y	Disease	Complement factor H deficiency (CFHD) [MIM:609814]
P08603	CFAH_HUMAN	1210	R	C	Disease	Macular degeneration, age-related, 4 (ARMD4) [MIM:610698]
P08603	CFAH_HUMAN	609	V	I	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	325	C	Y	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1197	V	A	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	493	T	R	Polymorphism	-
P08603	CFAH_HUMAN	402	Y	H	Polymorphism	-
P08603	CFAH_HUMAN	536	C	R	Disease	Complement factor H deficiency (CFHD) [MIM:609814]
P08603	CFAH_HUMAN	673	C	Y	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1226	P	S	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	893	H	R	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1010	A	T	Polymorphism	-
P08603	CFAH_HUMAN	62	V	I	Polymorphism	-
P08603	CFAH_HUMAN	1169	I	L	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1183	W	R	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1215	R	Q	Disease	Complement factor H deficiency (CFHD) [MIM:609814]
P08603	CFAH_HUMAN	567	R	G	Polymorphism	-
P08603	CFAH_HUMAN	1050	N	Y	Polymorphism	-
P08603	CFAH_HUMAN	1215	R	G	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	956	T	M	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	127	R	L	Disease	Complement factor H deficiency (CFHD) [MIM:609814]
P08603	CFAH_HUMAN	850	E	K	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1184	T	R	Disease	Complement factor H deficiency (CFHD) [MIM:609814]
P08603	CFAH_HUMAN	1007	V	L	Polymorphism	-
P08603	CFAH_HUMAN	1199	F	S	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	890	S	I	Polymorphism	-
P08603	CFAH_HUMAN	78	R	G	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1043	C	R	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1183	W	C	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	673	C	S	Disease	Complement factor H deficiency (CFHD) [MIM:609814]
P08603	CFAH_HUMAN	1183	W	L	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1007	V	I	Polymorphism	-
P08603	CFAH_HUMAN	1076	Q	E	Disease	Complement factor H deficiency (CFHD) [MIM:609814]
P08603	CFAH_HUMAN	1059	I	T	Polymorphism	-
P08603	CFAH_HUMAN	997	N	T	Polymorphism	-
P08603	CFAH_HUMAN	978	W	C	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1163	C	W	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	431	C	S	Disease	Complement factor H deficiency (CFHD) [MIM:609814]
P08603	CFAH_HUMAN	1143	Q	E	Polymorphism	-
P08603	CFAH_HUMAN	1021	Y	F	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	915	C	S	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1198	E	A	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	951	Y	H	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1189	L	R	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1142	Y	D	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1119	D	G	Disease	Complement factor H deficiency (CFHD) [MIM:609814]
P08603	CFAH_HUMAN	1078	R	S	Polymorphism	-
P08603	CFAH_HUMAN	551	I	T	Polymorphism	-
P08603	CFAH_HUMAN	1134	V	G	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1210	R	C	Disease	Complement factor H deficiency (CFHD) [MIM:609814]
P08603	CFAH_HUMAN	950	Q	H	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	936	E	D	Polymorphism	-
P08603	CFAH_HUMAN	1191	S	L	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1157	W	R	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08603	CFAH_HUMAN	1017	T	I	Polymorphism	-
P08603	CFAH_HUMAN	630	C	W	Disease	Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]
P08631	HCK_HUMAN	502	P	Q	Polymorphism	-
P08631	HCK_HUMAN	399	D	G	Unclassified	An ovarian mucinous carcinoma sample
P08631	HCK_HUMAN	105	M	L	Polymorphism	-
P08631	HCK_HUMAN	44	A	T	Polymorphism	-
P08637	FCG3A_HUMAN	66	L	R	Polymorphism	-
P08637	FCG3A_HUMAN	203	F	S	Polymorphism	-
P08637	FCG3A_HUMAN	147	G	D	Polymorphism	-
P08637	FCG3A_HUMAN	66	L	H	Disease	Immunodeficiency 20 (IMD20) [MIM:615707]
P08637	FCG3A_HUMAN	176	F	V	Polymorphism	-
P08637	FCG3A_HUMAN	158	Y	H	Polymorphism	-
P08648	ITA5_HUMAN	585	R	I	Polymorphism	-
P08651	NFIC_HUMAN	417	A	S	Polymorphism	-
P08670	VIME_HUMAN	208	Q	R	Unclassified	Cataract 30, multiple types (CTRCT30) [MIM:116300]
P08670	VIME_HUMAN	151	E	K	Disease	Cataract 30, multiple types (CTRCT30) [MIM:116300]
P08684	CP3A4_HUMAN	431	I	T	Polymorphism	-
P08684	CP3A4_HUMAN	185	T	S	Polymorphism	-
P08684	CP3A4_HUMAN	416	P	L	Polymorphism	-
P08684	CP3A4_HUMAN	162	R	Q	Polymorphism	-
P08684	CP3A4_HUMAN	56	G	D	Polymorphism	-
P08684	CP3A4_HUMAN	15	L	P	Polymorphism	-
P08684	CP3A4_HUMAN	467	P	S	Polymorphism	-
P08684	CP3A4_HUMAN	218	P	R	Polymorphism	-
P08684	CP3A4_HUMAN	293	L	P	Polymorphism	-
P08684	CP3A4_HUMAN	349	T	N	Polymorphism	-
P08684	CP3A4_HUMAN	130	R	Q	Polymorphism	-
P08684	CP3A4_HUMAN	222	S	P	Polymorphism	-
P08684	CP3A4_HUMAN	118	I	V	Polymorphism	-
P08684	CP3A4_HUMAN	445	M	T	Polymorphism	-
P08684	CP3A4_HUMAN	373	L	F	Polymorphism	-
P08684	CP3A4_HUMAN	363	T	M	Polymorphism	-
P08684	CP3A4_HUMAN	174	D	H	Polymorphism	-
P08684	CP3A4_HUMAN	252	S	A	Polymorphism	-
P08684	CP3A4_HUMAN	96	K	E	Polymorphism	-
P08684	CP3A4_HUMAN	170	V	I	Polymorphism	-
P08684	CP3A4_HUMAN	189	F	S	Polymorphism	-
P08686	CP21A_HUMAN	356	R	W	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	239	M	K	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	291	G	S	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	268	S	T	Polymorphism	-
P08686	CP21A_HUMAN	233	R	K	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	483	R	W	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	479	R	L	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	281	V	L	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	107	L	R	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	435	R	C	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	356	R	Q	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	291	G	R	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	77	I	T	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	408	R	C	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	230	I	T	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	121	K	Q	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	198	L	F	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	169	C	R	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	56	G	R	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	482	P	S	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	237	V	E	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	483	R	P	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	453	P	S	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	12	L	M	Unclassified	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	178	G	R	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	281	V	G	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	493	N	S	Polymorphism	-
P08686	CP21A_HUMAN	142	L	P	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	424	G	S	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	169	C	Y	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	282	H	N	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	301	S	Y	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	362	A	V	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	426	R	C	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	339	R	H	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	320	E	K	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	30	P	L	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	341	R	W	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	191	Y	H	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	236	I	N	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	261	L	P	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	98	K	R	Polymorphism	-
P08686	CP21A_HUMAN	183	D	E	Polymorphism	-
P08686	CP21A_HUMAN	105	P	L	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	211	V	L	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	300	L	F	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	317	L	M	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	304	V	M	Polymorphism	-
P08686	CP21A_HUMAN	292	G	D	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	375	G	S	Polymorphism	-
P08686	CP21A_HUMAN	426	R	H	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	167	L	P	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	365	H	Y	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	283	M	L	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	102	K	R	Polymorphism	-
P08686	CP21A_HUMAN	450	T	P	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	341	R	P	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	302	W	R	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	363	L	W	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	64	G	E	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	30	P	Q	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	113	S	F	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	356	R	P	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	62	H	L	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	354	R	C	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	291	G	C	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	202	S	G	Polymorphism	-
P08686	CP21A_HUMAN	172	I	N	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	380	E	D	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	178	G	A	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	354	R	H	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	124	R	H	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	267	P	L	Polymorphism	-
P08686	CP21A_HUMAN	369	R	W	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	450	T	M	Polymorphism	-
P08686	CP21A_HUMAN	90	G	V	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	16	R	C	Polymorphism	-
P08686	CP21A_HUMAN	483	R	Q	Disease	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08686	CP21A_HUMAN	15	A	T	Unclassified	Adrenal hyperplasia 3 (AH3) [MIM:201910]
P08697	A2AP_HUMAN	2	A	V	Polymorphism	-
P08697	A2AP_HUMAN	451	P	S	Polymorphism	-
P08697	A2AP_HUMAN	33	R	W	Polymorphism	-
P08697	A2AP_HUMAN	98	A	G	Polymorphism	-
P08697	A2AP_HUMAN	434	R	K	Polymorphism	-
P08697	A2AP_HUMAN	411	V	M	Disease	Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]
P08697	A2AP_HUMAN	27	A	V	Polymorphism	-
P08700	IL3_HUMAN	3	R	C	Polymorphism	-
P08700	IL3_HUMAN	15	R	H	Polymorphism	-
P08700	IL3_HUMAN	60	N	S	Polymorphism	-
P08700	IL3_HUMAN	27	P	S	Polymorphism	-
P08708	RS17_HUMAN	36	E	K	Polymorphism	-
P08709	FA7_HUMAN	363	P	R	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	121	C	F	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	370	C	F	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	139	R	W	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	344	W	R	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	251	A	P	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	240	G	R	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	189	P	S	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	13	L	P	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	301	H	Q	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	264	L	P	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	177	G	R	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	321	L	F	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	325	E	K	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	419	T	M	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	326	R	Q	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	171	S	F	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	445	E	K	Polymorphism	-
P08709	FA7_HUMAN	404	S	N	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	413	R	G	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	413	R	Q	Polymorphism	-
P08709	FA7_HUMAN	250	S	F	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	389	C	G	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	358	M	I	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	422	V	F	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	183	D	N	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	251	A	T	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	85	E	K	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	401	K	E	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	304	A	V	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	186	S	F	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	414	G	C	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	238	C	Y	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	254	C	Y	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	314	L	V	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	73	L	Q	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	295	V	D	Polymorphism	-
P08709	FA7_HUMAN	402	G	E	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	435	G	E	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	156	G	S	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	198	I	T	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	354	A	V	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	364	R	Q	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	408	H	R	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	307	R	H	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	88	R	P	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	216	G	D	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	425	G	C	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	323	L	R	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	375	R	W	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	341	V	F	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	352	A	T	Polymorphism	-
P08709	FA7_HUMAN	194	P	L	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	195	C	R	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	332	T	M	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	194	P	T	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	387	M	T	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	212	R	Q	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	358	M	V	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	283	R	W	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	432	G	D	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	277	D	N	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	364	R	W	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	343	G	S	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	88	R	G	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	139	R	K	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	312	V	M	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	79	E	Q	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	181	L	P	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	391	G	C	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	160	Q	R	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	125	L	P	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	139	R	Q	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	298	T	I	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	254	C	R	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	266	A	T	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	363	P	H	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	402	G	R	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	387	M	V	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	345	G	S	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	117	N	D	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	151	C	S	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	197	K	E	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	154	E	K	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	367	T	S	Polymorphism	-
P08709	FA7_HUMAN	398	D	E	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	82	C	R	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	157	G	S	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	138	G	D	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	437	Y	F	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	128	Y	C	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	425	G	A	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	403	D	H	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	241	T	N	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	157	G	V	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	408	H	Q	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	391	G	S	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	302	D	H	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	302	D	N	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	350	R	C	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	384	T	M	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	157	G	C	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	120	S	P	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	64	F	L	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	82	C	F	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	307	R	C	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	337	R	C	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	304	A	T	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	272	D	N	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	388	F	S	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	429	A	T	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	344	W	G	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08709	FA7_HUMAN	360	L	P	Disease	Factor VII deficiency (FA7D) [MIM:227500]
P08727	K1C19_HUMAN	60	A	G	Polymorphism	-
P08729	K2C7_HUMAN	364	G	A	Polymorphism	-
P08729	K2C7_HUMAN	186	H	R	Polymorphism	-
P08754	GNAI3_HUMAN	40	G	R	Disease	Auriculocondylar syndrome 1 (ARCND1) [MIM:602483]
P08779	K1C16_HUMAN	127	R	C	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	132	L	P	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	125	N	S	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	125	N	G	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	121	M	T	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	124	L	H	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	124	L	R	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	354	K	N	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	125	N	S	Disease	Keratoderma, palmoplantar, non-epidermolytic, focal 1 (FNEPPK1) [MIM:613000]
P08779	K1C16_HUMAN	125	N	D	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	127	R	C	Disease	Keratoderma, palmoplantar, non-epidermolytic, focal 1 (FNEPPK1) [MIM:613000]
P08779	K1C16_HUMAN	122	Q	P	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	128	L	Q	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	421	L	P	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	124	L	P	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08779	K1C16_HUMAN	127	R	P	Disease	Pachyonychia congenita 1 (PC1) [MIM:167200]
P08833	IBP1_HUMAN	253	I	M	Polymorphism	-
P08833	IBP1_HUMAN	114	H	D	Polymorphism	-
P08833	IBP1_HUMAN	183	V	I	Polymorphism	-
P08842	STS_HUMAN	446	C	Y	Disease	Ichthyosis, X-linked (IXL) [MIM:308100]
P08842	STS_HUMAN	372	W	R	Disease	Ichthyosis, X-linked (IXL) [MIM:308100]
P08842	STS_HUMAN	444	H	R	Disease	Ichthyosis, X-linked (IXL) [MIM:308100]
P08842	STS_HUMAN	560	Q	P	Disease	Ichthyosis, X-linked (IXL) [MIM:308100]
P08842	STS_HUMAN	341	S	L	Disease	Ichthyosis, X-linked (IXL) [MIM:308100]
P08842	STS_HUMAN	476	V	M	Polymorphism	-
P08842	STS_HUMAN	372	W	S	Disease	Ichthyosis, X-linked (IXL) [MIM:308100]
P08842	STS_HUMAN	380	G	R	Disease	Ichthyosis, X-linked (IXL) [MIM:308100]
P08861	CEL3B_HUMAN	79	R	W	Polymorphism	-
P08865	RSSA_HUMAN	180	R	G	Disease	Asplenia, isolated congenital (ICAS) [MIM:271400]
P08865	RSSA_HUMAN	186	R	C	Disease	Asplenia, isolated congenital (ICAS) [MIM:271400]
P08865	RSSA_HUMAN	278	A	T	Polymorphism	-
P08865	RSSA_HUMAN	58	L	F	Disease	Asplenia, isolated congenital (ICAS) [MIM:271400]
P08865	RSSA_HUMAN	257	V	G	Polymorphism	-
P08865	RSSA_HUMAN	180	R	W	Disease	Asplenia, isolated congenital (ICAS) [MIM:271400]
P08865	RSSA_HUMAN	117	R	W	Polymorphism	-
P08865	RSSA_HUMAN	54	T	N	Disease	Asplenia, isolated congenital (ICAS) [MIM:271400]
P08865	RSSA_HUMAN	185	M	V	Polymorphism	-
P08887	IL6RA_HUMAN	385	V	I	Polymorphism	-
P08887	IL6RA_HUMAN	358	D	A	Polymorphism	-
P08908	5HT1A_HUMAN	184	P	L	Polymorphism	-
P08908	5HT1A_HUMAN	22	G	S	Polymorphism	-
P08908	5HT1A_HUMAN	16	P	L	Polymorphism	-
P08908	5HT1A_HUMAN	28	I	V	Polymorphism	-
P08908	5HT1A_HUMAN	273	G	D	Polymorphism	-
P08908	5HT1A_HUMAN	220	R	L	Polymorphism	-
P08910	ABHD2_HUMAN	253	R	Q	Polymorphism	-
P08913	ADA2A_HUMAN	251	N	K	Polymorphism	-
P08913	ADA2A_HUMAN	401	C	S	Polymorphism	-
P08922	ROS1_HUMAN	1902	E	K	Polymorphism	-
P08922	ROS1_HUMAN	865	Q	H	Unclassified	A lung large cell carcinoma sample
P08922	ROS1_HUMAN	2213	D	N	Polymorphism	-
P08922	ROS1_HUMAN	13	N	S	Polymorphism	-
P08922	ROS1_HUMAN	1776	D	H	Polymorphism	-
P08922	ROS1_HUMAN	145	T	P	Polymorphism	-
P08922	ROS1_HUMAN	2240	N	K	Polymorphism	-
P08922	ROS1_HUMAN	338	Y	C	Polymorphism	-
P08922	ROS1_HUMAN	2003	K	R	Unclassified	A colorectal adenocarcinoma sample
P08922	ROS1_HUMAN	2213	D	E	Polymorphism	-
P08922	ROS1_HUMAN	790	N	S	Polymorphism	-
P08922	ROS1_HUMAN	537	I	M	Polymorphism	-
P08922	ROS1_HUMAN	2229	S	C	Polymorphism	-
P08922	ROS1_HUMAN	224	P	S	Polymorphism	-
P08922	ROS1_HUMAN	653	S	F	Polymorphism	-
P08922	ROS1_HUMAN	1353	Y	S	Polymorphism	-
P08922	ROS1_HUMAN	2203	D	N	Polymorphism	-
P08922	ROS1_HUMAN	2039	R	H	Polymorphism	-
P08922	ROS1_HUMAN	2228	K	Q	Polymorphism	-
P08922	ROS1_HUMAN	1506	R	G	Polymorphism	-
P08922	ROS1_HUMAN	126	G	V	Polymorphism	-
P08922	ROS1_HUMAN	2328	K	R	Polymorphism	-
P08922	ROS1_HUMAN	167	R	Q	Polymorphism	-
P08922	ROS1_HUMAN	1370	C	R	Polymorphism	-
P08922	ROS1_HUMAN	1109	S	L	Polymorphism	-
P08922	ROS1_HUMAN	1239	Y	F	Polymorphism	-
P08922	ROS1_HUMAN	419	Y	H	Unclassified	A gastric adenocarcinoma sample
P08922	ROS1_HUMAN	2138	F	S	Unclassified	A gastric adenocarcinoma sample
P08922	ROS1_HUMAN	370	S	P	Polymorphism	-
P08922	ROS1_HUMAN	1999	H	N	Polymorphism	-
P08922	ROS1_HUMAN	1439	F	S	Polymorphism	-
P08949	NMB_HUMAN	73	P	T	Polymorphism	-
P08F94	PKHD1_HUMAN	17	A	V	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1624	R	W	Unclassified	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1204	C	Y	Polymorphism	-
P08F94	PKHD1_HUMAN	2648	G	S	Unclassified	-
P08F94	PKHD1_HUMAN	2224	G	R	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1262	A	V	Polymorphism	-
P08F94	PKHD1_HUMAN	656	W	C	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	222	I	V	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3551	E	K	Polymorphism	-
P08F94	PKHD1_HUMAN	2436	T	I	Unclassified	-
P08F94	PKHD1_HUMAN	1122	G	S	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3780	P	S	Unclassified	-
P08F94	PKHD1_HUMAN	1249	C	W	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3263	V	A	Polymorphism	-
P08F94	PKHD1_HUMAN	307	I	T	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	852	W	R	Polymorphism	-
P08F94	PKHD1_HUMAN	1942	D	G	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1781	T	I	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	4048	Q	R	Polymorphism	-
P08F94	PKHD1_HUMAN	2303	I	F	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3505	S	R	Polymorphism	-
P08F94	PKHD1_HUMAN	1712	G	R	Polymorphism	-
P08F94	PKHD1_HUMAN	760	R	H	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1709	L	F	Polymorphism	-
P08F94	PKHD1_HUMAN	3529	E	Q	Polymorphism	-
P08F94	PKHD1_HUMAN	1806	E	K	Unclassified	A colorectal cancer sample
P08F94	PKHD1_HUMAN	19	R	H	Unclassified	A colorectal cancer sample
P08F94	PKHD1_HUMAN	1741	V	M	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	579	T	M	Polymorphism	-
P08F94	PKHD1_HUMAN	1789	V	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3553	I	T	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2803	C	R	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3139	D	Y	Polymorphism	-
P08F94	PKHD1_HUMAN	752	T	M	Polymorphism	-
P08F94	PKHD1_HUMAN	2863	Y	C	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3783	P	S	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3210	S	C	Unclassified	-
P08F94	PKHD1_HUMAN	3622	C	Y	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	372	F	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3905	I	N	Polymorphism	-
P08F94	PKHD1_HUMAN	1407	L	R	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3024	C	Y	Unclassified	-
P08F94	PKHD1_HUMAN	25	I	V	Polymorphism	-
P08F94	PKHD1_HUMAN	36	T	M	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1928	W	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3018	S	F	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3960	V	I	Polymorphism	-
P08F94	PKHD1_HUMAN	1995	E	G	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	724	P	R	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1664	S	F	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	539	I	T	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1081	R	C	Unclassified	A colorectal cancer sample
P08F94	PKHD1_HUMAN	3913	R	H	Polymorphism	-
P08F94	PKHD1_HUMAN	19	R	H	Unclassified	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	4037	L	P	Unclassified	-
P08F94	PKHD1_HUMAN	2573	R	C	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2431	E	V	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2957	I	T	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3471	V	G	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1817	V	G	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1998	I	T	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3842	R	L	Polymorphism	-
P08F94	PKHD1_HUMAN	246	I	T	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2615	A	G	Polymorphism	-
P08F94	PKHD1_HUMAN	293	A	V	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3837	V	I	Polymorphism	-
P08F94	PKHD1_HUMAN	760	R	W	Polymorphism	-
P08F94	PKHD1_HUMAN	2761	D	Y	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	760	R	C	Polymorphism	-
P08F94	PKHD1_HUMAN	223	G	S	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2134	L	P	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1584	S	I	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2032	V	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2422	C	G	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	686	H	P	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1875	V	G	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	470	G	V	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	466	G	E	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1096	L	R	Unclassified	A colorectal cancer sample
P08F94	PKHD1_HUMAN	326	G	V	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	92	R	W	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	457	E	D	Polymorphism	-
P08F94	PKHD1_HUMAN	2798	V	G	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2009	A	T	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1838	Y	C	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1833	S	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1870	L	V	Polymorphism	-
P08F94	PKHD1_HUMAN	2331	I	K	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3899	Q	R	Polymorphism	-
P08F94	PKHD1_HUMAN	473	I	S	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	253	F	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	496	R	P	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	486	Y	H	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	292	I	V	Polymorphism	-
P08F94	PKHD1_HUMAN	732	V	F	Polymorphism	-
P08F94	PKHD1_HUMAN	723	R	C	Polymorphism	-
P08F94	PKHD1_HUMAN	2661	Y	H	Unclassified	-
P08F94	PKHD1_HUMAN	2688	C	F	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2219	S	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3957	R	C	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2641	T	A	Polymorphism	-
P08F94	PKHD1_HUMAN	255	Y	C	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3502	E	V	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2938	T	M	Polymorphism	-
P08F94	PKHD1_HUMAN	2772	L	P	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	488	R	P	Polymorphism	-
P08F94	PKHD1_HUMAN	3052	D	Y	Polymorphism	-
P08F94	PKHD1_HUMAN	1123	G	S	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	739	P	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2861	S	G	Polymorphism	-
P08F94	PKHD1_HUMAN	3219	V	A	Unclassified	-
P08F94	PKHD1_HUMAN	3049	H	R	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	218	E	K	Unclassified	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1867	S	N	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1150	A	P	Polymorphism	-
P08F94	PKHD1_HUMAN	3177	I	T	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3175	N	D	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1283	S	L	Polymorphism	-
P08F94	PKHD1_HUMAN	899	T	P	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	997	M	K	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3207	A	T	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2422	C	R	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2210	G	E	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2106	L	R	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3289	S	I	Unclassified	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3482	R	C	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2804	M	K	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	703	D	N	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1030	A	E	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3346	C	R	Unclassified	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1472	C	Y	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1136	Y	C	Polymorphism	-
P08F94	PKHD1_HUMAN	1971	G	D	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3167	I	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3107	R	P	Polymorphism	-
P08F94	PKHD1_HUMAN	3124	H	Y	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1389	P	T	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	830	N	S	Polymorphism	-
P08F94	PKHD1_HUMAN	2983	S	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3468	I	V	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1486	P	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3293	D	V	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	1917	Q	R	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3036	V	G	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3081	I	V	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3175	N	S	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	805	P	L	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	3440	V	D	Polymorphism	-
P08F94	PKHD1_HUMAN	3143	R	I	Polymorphism	-
P08F94	PKHD1_HUMAN	3072	A	V	Polymorphism	-
P08F94	PKHD1_HUMAN	3088	D	N	Polymorphism	-
P08F94	PKHD1_HUMAN	2869	T	K	Polymorphism	-
P08F94	PKHD1_HUMAN	757	I	L	Unclassified	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P08F94	PKHD1_HUMAN	2962	D	G	Disease	Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]
P09001	RM03_HUMAN	317	P	R	Disease	Combined oxidative phosphorylation deficiency 9 (COXPD9) [MIM:614582]
P09001	RM03_HUMAN	261	M	T	Polymorphism	-
P09016	HXD4_HUMAN	123	S	P	Polymorphism	-
P09017	HXC4_HUMAN	178	N	S	Polymorphism	-
P09017	HXC4_HUMAN	158	R	L	Polymorphism	-
P09093	CEL3A_HUMAN	241	A	G	Polymorphism	-
P09093	CEL3A_HUMAN	25	S	P	Polymorphism	-
P09093	CEL3A_HUMAN	31	H	N	Polymorphism	-
P09093	CEL3A_HUMAN	24	H	R	Polymorphism	-
P09104	ENOG_HUMAN	264	P	A	Polymorphism	-
P09104	ENOG_HUMAN	395	T	A	Polymorphism	-
P09110	THIK_HUMAN	172	E	D	Polymorphism	-
P09110	THIK_HUMAN	387	V	A	Polymorphism	-
P09131	P3_HUMAN	354	V	I	Polymorphism	-
P09132	SRP19_HUMAN	4	A	T	Polymorphism	-
P09172	DOPO_HUMAN	317	L	P	Polymorphism	-
P09172	DOPO_HUMAN	114	D	E	Disease	Orthostatic hypotension 1 (ORTHYP1) [MIM:223360]
P09172	DOPO_HUMAN	239	K	N	Polymorphism	-
P09172	DOPO_HUMAN	211	A	T	Polymorphism	-
P09172	DOPO_HUMAN	345	D	N	Disease	Orthostatic hypotension 1 (ORTHYP1) [MIM:223360]
P09172	DOPO_HUMAN	318	A	S	Polymorphism	-
P09172	DOPO_HUMAN	101	V	M	Disease	Orthostatic hypotension 1 (ORTHYP1) [MIM:223360]
P09172	DOPO_HUMAN	250	E	Q	Polymorphism	-
P09172	DOPO_HUMAN	290	D	N	Polymorphism	-
P09172	DOPO_HUMAN	549	R	C	Polymorphism	-
P09172	DOPO_HUMAN	12	G	S	Polymorphism	-
P09172	DOPO_HUMAN	181	E	Q	Polymorphism	-
P09210	GSTA2_HUMAN	110	P	S	Polymorphism	-
P09210	GSTA2_HUMAN	210	E	A	Polymorphism	-
P09210	GSTA2_HUMAN	149	V	A	Polymorphism	-
P09210	GSTA2_HUMAN	112	S	T	Polymorphism	-
P09211	GSTP1_HUMAN	169	G	D	Polymorphism	-
P09211	GSTP1_HUMAN	105	I	V	Polymorphism	-
P09211	GSTP1_HUMAN	114	A	V	Polymorphism	-
P09237	MMP7_HUMAN	137	G	D	Polymorphism	-
P09237	MMP7_HUMAN	77	R	H	Polymorphism	-
P09237	MMP7_HUMAN	241	P	L	Polymorphism	-
P09238	MMP10_HUMAN	475	H	L	Polymorphism	-
P09238	MMP10_HUMAN	142	E	Q	Unclassified	A breast cancer sample
P09238	MMP10_HUMAN	226	F	L	Polymorphism	-
P09238	MMP10_HUMAN	4	L	V	Polymorphism	-
P09238	MMP10_HUMAN	440	L	F	Polymorphism	-
P09238	MMP10_HUMAN	282	G	E	Polymorphism	-
P09238	MMP10_HUMAN	65	G	R	Polymorphism	-
P09238	MMP10_HUMAN	53	R	K	Polymorphism	-
P09326	CD48_HUMAN	241	L	S	Polymorphism	-
P09326	CD48_HUMAN	102	E	Q	Polymorphism	-
P09327	VILI_HUMAN	254	K	R	Polymorphism	-
P09417	DHPR_HUMAN	150	Y	C	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	108	W	G	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	212	F	C	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	17	G	V	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	36	W	R	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	151	G	S	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	145	P	L	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	14	L	P	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	74	L	P	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	18	G	D	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	23	G	D	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	51	S	T	Polymorphism	-
P09417	DHPR_HUMAN	17	G	R	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	149	G	R	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	170	G	S	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	66	Q	R	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09417	DHPR_HUMAN	158	H	Y	Disease	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]
P09429	HMGB1_HUMAN	149	A	E	Unclassified	Gastric-carcinoma cell line
P09429	HMGB1_HUMAN	190	D	G	Unclassified	Gastric-carcinoma cell line
P09429	HMGB1_HUMAN	156	E	Q	Polymorphism	-
P09429	HMGB1_HUMAN	11	G	R	Unclassified	Gastric-carcinoma cell line
P09466	PAEP_HUMAN	28	L	V	Polymorphism	-
P09466	PAEP_HUMAN	126	Q	K	Polymorphism	-
P09467	F16P1_HUMAN	218	R	K	Polymorphism	-
P09467	F16P1_HUMAN	325	V	A	Polymorphism	-
P09467	F16P1_HUMAN	255	R	L	Polymorphism	-
P09467	F16P1_HUMAN	233	F	I	Polymorphism	-
P09467	F16P1_HUMAN	284	P	R	Disease	Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700]
P09467	F16P1_HUMAN	158	R	W	Unclassified	Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700]
P09467	F16P1_HUMAN	194	F	S	Disease	Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700]
P09467	F16P1_HUMAN	164	G	S	Disease	Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700]
P09467	F16P1_HUMAN	177	A	D	Disease	Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700]
P09471	GNAO_HUMAN	209	R	C	Disease	Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473]
P09471	GNAO_HUMAN	227	A	V	Disease	Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]
P09471	GNAO_HUMAN	246	E	G	Disease	Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]
P09471	GNAO_HUMAN	279	I	N	Disease	Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473]
P09471	GNAO_HUMAN	209	R	C	Disease	Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]
P09471	GNAO_HUMAN	47	S	G	Disease	Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]
P09471	GNAO_HUMAN	246	E	K	Disease	Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]
P09471	GNAO_HUMAN	203	G	R	Disease	Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473]
P09471	GNAO_HUMAN	209	R	H	Disease	Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]
P09471	GNAO_HUMAN	56	I	T	Disease	Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]
P09471	GNAO_HUMAN	209	R	L	Disease	Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]
P09471	GNAO_HUMAN	174	D	G	Disease	Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473]
P09471	GNAO_HUMAN	209	R	G	Disease	Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]
P09471	GNAO_HUMAN	40	G	R	Disease	Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473]
P09471	GNAO_HUMAN	40	G	R	Disease	Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]
P09486	SPRC_HUMAN	70	N	S	Polymorphism	-
P09486	SPRC_HUMAN	166	R	H	Disease	Osteogenesis imperfecta 17 (OI17) [MIM:616507]
P09486	SPRC_HUMAN	19	P	S	Polymorphism	-
P09486	SPRC_HUMAN	263	E	K	Disease	Osteogenesis imperfecta 17 (OI17) [MIM:616507]
P09488	GSTM1_HUMAN	173	K	N	Polymorphism	-
P09488	GSTM1_HUMAN	210	S	T	Polymorphism	-
P09493	TPM1_HUMAN	248	K	E	Disease	Left ventricular non-compaction 9 (LVNC9) [MIM:611878]
P09493	TPM1_HUMAN	192	E	K	Disease	Left ventricular non-compaction 9 (LVNC9) [MIM:611878]
P09493	TPM1_HUMAN	175	D	N	Disease	Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196]
P09493	TPM1_HUMAN	63	A	V	Disease	Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196]
P09493	TPM1_HUMAN	40	E	K	Disease	Cardiomyopathy, dilated 1Y (CMD1Y) [MIM:611878]
P09493	TPM1_HUMAN	54	E	K	Disease	Cardiomyopathy, dilated 1Y (CMD1Y) [MIM:611878]
P09493	TPM1_HUMAN	180	E	G	Disease	Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196]
P09493	TPM1_HUMAN	180	E	V	Disease	Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196]
P09525	ANXA4_HUMAN	85	T	M	Polymorphism	-
P09543	CN37_HUMAN	207	Q	R	Polymorphism	-
P09544	WNT2_HUMAN	5	L	R	Polymorphism	-
P09544	WNT2_HUMAN	299	R	W	Polymorphism	-
P09544	WNT2_HUMAN	294	C	F	Polymorphism	-
P09564	CD7_HUMAN	113	T	A	Polymorphism	-
P09601	HMOX1_HUMAN	106	P	L	Polymorphism	-
P09601	HMOX1_HUMAN	7	D	H	Polymorphism	-
P09603	CSF1_HUMAN	531	A	V	Polymorphism	-
P09603	CSF1_HUMAN	341	S	N	Polymorphism	-
P09603	CSF1_HUMAN	438	G	R	Polymorphism	-
P09603	CSF1_HUMAN	496	S	F	Polymorphism	-
P09603	CSF1_HUMAN	489	F	S	Polymorphism	-
P09603	CSF1_HUMAN	408	L	P	Polymorphism	-
P09619	PGFRB_HUMAN	589	Y	H	Unclassified	A gastric adenocarcinoma sample
P09619	PGFRB_HUMAN	485	E	K	Polymorphism	-
P09619	PGFRB_HUMAN	180	S	F	Polymorphism	-
P09619	PGFRB_HUMAN	345	P	S	Polymorphism	-
P09619	PGFRB_HUMAN	29	I	F	Polymorphism	-
P09619	PGFRB_HUMAN	987	R	W	Disease	Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007]
P09619	PGFRB_HUMAN	718	N	Y	Polymorphism	-
P09619	PGFRB_HUMAN	665	V	A	Disease	Premature aging syndrome, Penttinen type (PENTT) [MIM:601812]
P09619	PGFRB_HUMAN	561	R	C	Disease	Myofibromatosis, infantile 1 (IMF1) [MIM:228550]
P09619	PGFRB_HUMAN	584	P	R	Disease	Kosaki overgrowth syndrome (KOGS) [MIM:616592]
P09619	PGFRB_HUMAN	882	T	I	Unclassified	A breast infiltrating ductal carcinoma sample
P09619	PGFRB_HUMAN	658	L	P	Disease	Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007]
P09619	PGFRB_HUMAN	282	E	K	Polymorphism	-
P09619	PGFRB_HUMAN	660	P	T	Disease	Myofibromatosis, infantile 1 (IMF1) [MIM:228550]
P09619	PGFRB_HUMAN	1071	E	V	Disease	Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007]
P09622	DLDH_HUMAN	393	I	T	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622	DLDH_HUMAN	488	P	L	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622	DLDH_HUMAN	72	K	E	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622	DLDH_HUMAN	482	R	G	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622	DLDH_HUMAN	479	D	V	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622	DLDH_HUMAN	47	I	T	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622	DLDH_HUMAN	229	G	C	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622	DLDH_HUMAN	375	E	K	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622	DLDH_HUMAN	361	M	V	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622	DLDH_HUMAN	104	K	T	Polymorphism	-
P09622	DLDH_HUMAN	495	R	G	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622	DLDH_HUMAN	331	L	V	Polymorphism	-
P09629	HXB7_HUMAN	9	T	A	Polymorphism	-
P09651	ROA1_HUMAN	314	D	N	Disease	Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426]
P09651	ROA1_HUMAN	277	Q	K	Unclassified	Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426]
P09651	ROA1_HUMAN	340	P	S	Disease	Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426]
P09651	ROA1_HUMAN	314	D	V	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 (IBMPFD3) [MIM:615424]
P09651	ROA1_HUMAN	319	N	S	Disease	Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426]
P09651	ROA1_HUMAN	283	G	R	Polymorphism	-
P09668	CATH_HUMAN	126	G	R	Unclassified	A colorectal cancer sample
P09668	CATH_HUMAN	26	C	S	Polymorphism	-
P09668	CATH_HUMAN	23	A	T	Polymorphism	-
P09668	CATH_HUMAN	179	H	Y	Polymorphism	-
P09668	CATH_HUMAN	11	G	R	Polymorphism	-
P09681	GIP_HUMAN	103	S	G	Polymorphism	-
P09681	GIP_HUMAN	146	N	S	Polymorphism	-
P09693	CD3G_HUMAN	131	V	F	Polymorphism	-
P09758	TACD2_HUMAN	147	E	D	Polymorphism	-
P09758	TACD2_HUMAN	216	D	E	Polymorphism	-
P09758	TACD2_HUMAN	173	D	A	Polymorphism	-
P09769	FGR_HUMAN	130	S	R	Polymorphism	-
P09769	FGR_HUMAN	110	T	I	Polymorphism	-
P09848	LPH_HUMAN	268	Q	H	Disease	Congenital lactase deficiency (COLACD) [MIM:223000]
P09848	LPH_HUMAN	1363	G	S	Disease	Congenital lactase deficiency (COLACD) [MIM:223000]
P09848	LPH_HUMAN	219	V	I	Polymorphism	-
P09848	LPH_HUMAN	190	S	L	Polymorphism	-
P09848	LPH_HUMAN	1639	N	S	Polymorphism	-
P09848	LPH_HUMAN	362	I	V	Polymorphism	-
P09848	LPH_HUMAN	1593	V	M	Polymorphism	-
P09871	C1S_HUMAN	327	V	L	Polymorphism	-
P09871	C1S_HUMAN	383	R	H	Polymorphism	-
P09871	C1S_HUMAN	294	C	R	Disease	Ehlers-Danlos syndrome, periodontal type, 2 (EDSPD2) [MIM:617174]
P09871	C1S_HUMAN	119	R	H	Polymorphism	-
P09874	PARP1_HUMAN	188	A	T	Polymorphism	-
P09874	PARP1_HUMAN	334	V	I	Polymorphism	-
P09874	PARP1_HUMAN	762	V	A	Polymorphism	-
P09874	PARP1_HUMAN	383	S	Y	Polymorphism	-
P09874	PARP1_HUMAN	488	E	V	Unclassified	A breast cancer sample
P09874	PARP1_HUMAN	54	F	L	Polymorphism	-
P09874	PARP1_HUMAN	940	K	R	Polymorphism	-
P09874	PARP1_HUMAN	377	P	S	Polymorphism	-
P09884	DPOLA_HUMAN	740	Y	H	Polymorphism	-
P09913	IFIT2_HUMAN	121	K	R	Polymorphism	-
P09913	IFIT2_HUMAN	79	E	A	Polymorphism	-
P09913	IFIT2_HUMAN	352	D	E	Polymorphism	-
P09914	IFIT1_HUMAN	131	P	H	Polymorphism	-
P09917	LOX5_HUMAN	254	E	K	Polymorphism	-
P09919	CSF3_HUMAN	174	A	T	Polymorphism	-
P09919	CSF3_HUMAN	157	L	M	Polymorphism	-
P09923	PPBI_HUMAN	144	R	H	Polymorphism	-
P09923	PPBI_HUMAN	298	H	L	Polymorphism	-
P09936	UCHL1_HUMAN	7	E	A	Disease	Spastic paraplegia 79, autosomal recessive (SPG79) [MIM:615491]
P09936	UCHL1_HUMAN	178	R	Q	Disease	Spastic paraplegia 79, autosomal recessive (SPG79) [MIM:615491]
P09936	UCHL1_HUMAN	93	I	M	Disease	Parkinson disease 5 (PARK5) [MIM:613643]
P09936	UCHL1_HUMAN	216	A	D	Disease	Spastic paraplegia 79, autosomal recessive (SPG79) [MIM:615491]
P09936	UCHL1_HUMAN	18	S	Y	Polymorphism	-
P09958	FURIN_HUMAN	43	A	V	Polymorphism	-
P09958	FURIN_HUMAN	547	W	R	Unclassified	-
P09960	LKHA4_HUMAN	131	Y	H	Polymorphism	-
P0C024	NUDT7_HUMAN	100	R	H	Polymorphism	-
P0C024	NUDT7_HUMAN	181	E	G	Polymorphism	-
P0C091	FREM3_HUMAN	417	D	N	Polymorphism	-
P0C091	FREM3_HUMAN	412	D	N	Polymorphism	-
P0C0E4	RB40L_HUMAN	59	D	G	Disease	Mental retardation, X-linked, syndromic, Martin-Probst type (MRXSMP) [MIM:300519]
P0C0L4	CO4A_HUMAN	727	D	N	Polymorphism	-
P0C0L4	CO4A_HUMAN	549	H	P	Polymorphism	-
P0C0L4	CO4A_HUMAN	1073	D	G	Polymorphism	-
P0C0L4	CO4A_HUMAN	1210	L	R	Polymorphism	-
P0C0L4	CO4A_HUMAN	907	A	T	Polymorphism	-
P0C0L4	CO4A_HUMAN	477	R	W	Polymorphism	-
P0C0L4	CO4A_HUMAN	347	S	Y	Polymorphism	-
P0C0L4	CO4A_HUMAN	141	L	V	Polymorphism	-
P0C0L4	CO4A_HUMAN	1286	S	A	Polymorphism	-
P0C0L4	CO4A_HUMAN	726	P	L	Polymorphism	-
P0C0L4	CO4A_HUMAN	1201	T	S	Polymorphism	-
P0C0L4	CO4A_HUMAN	418	V	A	Polymorphism	-
P0C0L4	CO4A_HUMAN	1207	V	A	Polymorphism	-
P0C0L4	CO4A_HUMAN	1176	N	S	Polymorphism	-
P0C0L5	CO4B_HUMAN	347	S	Y	Polymorphism	-
P0C0L5	CO4B_HUMAN	1073	G	D	Polymorphism	-
P0C0L5	CO4B_HUMAN	1317	I	F	Polymorphism	-
P0C0L5	CO4B_HUMAN	1210	R	L	Polymorphism	-
P0C0L5	CO4B_HUMAN	1176	S	N	Polymorphism	-
P0C0L5	CO4B_HUMAN	1207	A	V	Polymorphism	-
P0C0L5	CO4B_HUMAN	478	P	L	Polymorphism	-
P0C0L5	CO4B_HUMAN	907	T	A	Polymorphism	-
P0C0P6	NPS_HUMAN	75	V	L	Polymorphism	-
P0C0P6	NPS_HUMAN	14	S	L	Polymorphism	-
P0C1S8	WEE2_HUMAN	332	N	K	Unclassified	A gastric adenocarcinoma sample
P0C1S8	WEE2_HUMAN	8	K	T	Polymorphism	-
P0C1S8	WEE2_HUMAN	234	D	H	Disease	Oocyte maturation defect 5 (OOMD5) [MIM:617996]
P0C1S8	WEE2_HUMAN	398	R	H	Unclassified	An ovarian mucinous carcinoma sample
P0C1S8	WEE2_HUMAN	470	D	E	Polymorphism	-
P0C1S8	WEE2_HUMAN	526	Y	D	Polymorphism	-
P0C221	CC175_HUMAN	164	G	R	Polymorphism	-
P0C221	CC175_HUMAN	689	S	R	Polymorphism	-
P0C221	CC175_HUMAN	689	S	N	Polymorphism	-
P0C221	CC175_HUMAN	507	G	E	Polymorphism	-
P0C263	SBK2_HUMAN	20	E	K	Polymorphism	-
P0C263	SBK2_HUMAN	102	G	D	Polymorphism	-
P0C263	SBK2_HUMAN	41	A	E	Polymorphism	-
P0C2Y1	NBPF7_HUMAN	170	E	D	Polymorphism	-
P0C5J1	F86B2_HUMAN	43	D	Y	Polymorphism	-
P0C5J1	F86B2_HUMAN	285	R	S	Polymorphism	-
P0C645	OR4E1_HUMAN	274	V	A	Polymorphism	-
P0C645	OR4E1_HUMAN	238	R	W	Polymorphism	-
P0C645	OR4E1_HUMAN	199	I	L	Polymorphism	-
P0C671	BNIP5_HUMAN	582	L	V	Polymorphism	-
P0C6C1	AN34C_HUMAN	442	L	I	Polymorphism	-
P0C6C1	AN34C_HUMAN	369	P	R	Polymorphism	-
P0C6C1	AN34C_HUMAN	427	P	H	Polymorphism	-
P0C6P0	BCL8_HUMAN	33	V	A	Polymorphism	-
P0C6P0	BCL8_HUMAN	54	T	I	Polymorphism	-
P0C6P0	BCL8_HUMAN	81	C	R	Polymorphism	-
P0C6S8	LIGO3_HUMAN	426	R	H	Polymorphism	-
P0C7H9	U17L7_HUMAN	494	P	L	Polymorphism	-
P0C7H9	U17L7_HUMAN	161	A	G	Polymorphism	-
P0C7I6	CC159_HUMAN	278	C	S	Polymorphism	-
P0C7L1	ISK8_HUMAN	78	K	N	Polymorphism	-
P0C7M4	RHF2B_HUMAN	235	D	G	Unclassified	-
P0C7M4	RHF2B_HUMAN	227	G	R	Unclassified	-
P0C7M4	RHF2B_HUMAN	68	G	R	Unclassified	-
P0C7M4	RHF2B_HUMAN	176	L	F	Unclassified	-
P0C7M7	ACSM4_HUMAN	481	R	H	Polymorphism	-
P0C7P3	SLN14_HUMAN	905	L	F	Polymorphism	-
P0C7P3	SLN14_HUMAN	223	R	W	Disease	Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913]
P0C7P3	SLN14_HUMAN	93	Q	R	Polymorphism	-
P0C7P3	SLN14_HUMAN	219	K	N	Disease	Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913]
P0C7P3	SLN14_HUMAN	385	K	E	Polymorphism	-
P0C7P3	SLN14_HUMAN	880	S	I	Polymorphism	-
P0C7P3	SLN14_HUMAN	912	Y	F	Polymorphism	-
P0C7P3	SLN14_HUMAN	218	K	E	Disease	Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913]
P0C7P3	SLN14_HUMAN	870	G	S	Polymorphism	-
P0C7P3	SLN14_HUMAN	220	V	D	Disease	Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913]
P0C7Q2	ARMS2_HUMAN	3	R	H	Polymorphism	-
P0C7Q2	ARMS2_HUMAN	69	A	S	Polymorphism	-
P0C7Q5	S35G4_HUMAN	104	T	A	Polymorphism	-
P0C7Q6	S35G6_HUMAN	263	A	T	Polymorphism	-
P0C7Q6	S35G6_HUMAN	51	A	T	Polymorphism	-
P0C7Q6	S35G6_HUMAN	251	P	L	Polymorphism	-
P0C7T5	ATX1L_HUMAN	313	S	P	Polymorphism	-
P0C7T7	FMAS1_HUMAN	115	G	R	Polymorphism	-
P0C7U3	ZH11B_HUMAN	228	V	L	Polymorphism	-
P0C7U3	ZH11B_HUMAN	42	R	Q	Polymorphism	-
P0C7U3	ZH11B_HUMAN	200	R	G	Polymorphism	-
P0C7V0	CF217_HUMAN	112	A	E	Polymorphism	-
P0C7V8	DC8L2_HUMAN	345	T	A	Polymorphism	-
P0C7W0	PRR29_HUMAN	24	T	S	Polymorphism	-
P0C7X2	ZN688_HUMAN	131	S	I	Polymorphism	-
P0C7X4	FHL19_HUMAN	106	A	P	Polymorphism	-
P0C7X4	FHL19_HUMAN	17	R	H	Polymorphism	-
P0C7X5	ZN806_HUMAN	113	M	V	Polymorphism	-
P0C7X5	ZN806_HUMAN	283	G	R	Polymorphism	-
P0C7X5	ZN806_HUMAN	498	F	C	Polymorphism	-
P0C7X5	ZN806_HUMAN	8	V	A	Polymorphism	-
P0C7X5	ZN806_HUMAN	276	V	I	Polymorphism	-
P0C7X5	ZN806_HUMAN	248	V	A	Polymorphism	-
P0C7X5	ZN806_HUMAN	223	A	V	Polymorphism	-
P0C7X5	ZN806_HUMAN	189	R	C	Polymorphism	-
P0C7X5	ZN806_HUMAN	163	G	E	Polymorphism	-
P0C7X5	ZN806_HUMAN	28	A	S	Polymorphism	-
P0C7X5	ZN806_HUMAN	556	A	V	Polymorphism	-
P0C7X5	ZN806_HUMAN	367	G	V	Polymorphism	-
P0C7X5	ZN806_HUMAN	564	K	E	Polymorphism	-
P0C7X5	ZN806_HUMAN	44	F	L	Polymorphism	-
P0C7X5	ZN806_HUMAN	396	E	G	Polymorphism	-
P0C7X5	ZN806_HUMAN	375	D	E	Polymorphism	-
P0C7X5	ZN806_HUMAN	60	K	T	Polymorphism	-
P0C7X5	ZN806_HUMAN	561	R	H	Polymorphism	-
P0C7X5	ZN806_HUMAN	539	C	Y	Polymorphism	-
P0C862	C1T9A_HUMAN	219	M	V	Polymorphism	-
P0C862	C1T9A_HUMAN	301	V	M	Polymorphism	-
P0C862	C1T9A_HUMAN	6	L	F	Polymorphism	-
P0C869	PA24B_HUMAN	239	M	I	Polymorphism	-
P0C869	PA24B_HUMAN	591	T	I	Polymorphism	-
P0C869	PA24B_HUMAN	191	R	C	Polymorphism	-
P0C869	PA24B_HUMAN	391	R	H	Polymorphism	-
P0C870	JMJD7_HUMAN	28	A	G	Polymorphism	-
P0C870	JMJD7_HUMAN	160	M	V	Polymorphism	-
P0CAP1	MYZAP_HUMAN	277	A	V	Polymorphism	-
P0CB38	PAB4L_HUMAN	370	H	P	Polymorphism	-
P0CB38	PAB4L_HUMAN	192	V	I	Polymorphism	-
P0CB38	PAB4L_HUMAN	331	S	N	Polymorphism	-
P0CG23	ZN853_HUMAN	30	Q	R	Polymorphism	-
P0CG23	ZN853_HUMAN	8	G	R	Polymorphism	-
P0CG23	ZN853_HUMAN	212	Q	E	Polymorphism	-
P0CG30	GSTT2_HUMAN	139	M	I	Polymorphism	-
P0CG37	CFC1_HUMAN	189	R	C	Polymorphism	-
P0CG37	CFC1_HUMAN	78	R	W	Polymorphism	-
P0CG37	CFC1_HUMAN	112	R	C	Disease	Heterotaxy, visceral, 2, autosomal (HTX2) [MIM:605376]
P0CI25	TRI49_HUMAN	373	G	R	Polymorphism	-
P0CJ72	HMN5_HUMAN	13	T	I	Polymorphism	-
P0CW18	PRS56_HUMAN	302	V	F	Disease	Microphthalmia, isolated, 6 (MCOP6) [MIM:613517]
P0CW18	PRS56_HUMAN	599	P	A	Disease	Microphthalmia, isolated, 6 (MCOP6) [MIM:613517]
P0CW18	PRS56_HUMAN	320	G	R	Disease	Microphthalmia, isolated, 6 (MCOP6) [MIM:613517]
P0CW18	PRS56_HUMAN	309	W	S	Disease	Microphthalmia, isolated, 6 (MCOP6) [MIM:613517]
P0CW18	PRS56_HUMAN	395	C	R	Disease	Microphthalmia, isolated, 6 (MCOP6) [MIM:613517]
P0CW18	PRS56_HUMAN	237	G	R	Disease	Microphthalmia, isolated, 6 (MCOP6) [MIM:613517]
P0CW18	PRS56_HUMAN	176	R	G	Disease	Microphthalmia, isolated, 6 (MCOP6) [MIM:613517]
P0DI81	TPC2A_HUMAN	47	D	Y	Disease	Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]
P0DI81	TPC2A_HUMAN	73	S	L	Disease	Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]
P0DI81	TPC2A_HUMAN	130	V	D	Disease	Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]
P0DI81	TPC2A_HUMAN	83	F	S	Disease	Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]
P0DJI8	SAA1_HUMAN	78	D	N	Polymorphism	-
P0DJI8	SAA1_HUMAN	70	V	A	Polymorphism	-
P0DJI8	SAA1_HUMAN	15	G	S	Polymorphism	-
P0DJI8	SAA1_HUMAN	86	F	L	Polymorphism	-
P0DJI8	SAA1_HUMAN	90	G	D	Polymorphism	-
P0DJI8	SAA1_HUMAN	75	A	V	Polymorphism	-
P0DJI9	SAA2_HUMAN	89	R	H	Polymorphism	-
P0DMM9	ST1A3_HUMAN	144	R	C	Polymorphism	-
P0DMM9	ST1A3_HUMAN	101	P	L	Polymorphism	-
P0DMM9	ST1A3_HUMAN	234	K	N	Polymorphism	-
P0DMM9	ST1A3_HUMAN	101	P	H	Polymorphism	-
P0DMN0	ST1A4_HUMAN	234	K	N	Unclassified	-
P0DMN0	ST1A4_HUMAN	144	R	C	Unclassified	-
P0DMN0	ST1A4_HUMAN	101	P	H	Polymorphism	-
P0DMN0	ST1A4_HUMAN	101	P	L	Polymorphism	-
P0DMS8	AA3R_HUMAN	105	A	T	Unclassified	A colorectal cancer sample
P0DMS8	AA3R_HUMAN	248	I	L	Polymorphism	-
P0DMS8	AA3R_HUMAN	266	M	K	Polymorphism	-
P0DMV8	HS71A_HUMAN	110	E	D	Polymorphism	-
P0DMV9	HS71B_HUMAN	467	A	V	Polymorphism	-
P0DMV9	HS71B_HUMAN	499	N	S	Polymorphism	-
P0DMV9	HS71B_HUMAN	95	I	V	Polymorphism	-
P0DN86	CGB3_HUMAN	4	F	L	Polymorphism	-
P0DN86	CGB3_HUMAN	147	S	C	Polymorphism	-
P0DN86	CGB3_HUMAN	22	K	R	Polymorphism	-
P0DN86	CGB3_HUMAN	24	P	M	Unclassified	-
P0DN86	CGB3_HUMAN	28	R	W	Polymorphism	-
P0DN86	CGB3_HUMAN	30	R	H	Polymorphism	-
P0DN86	CGB3_HUMAN	18	T	A	Polymorphism	-
P0DN86	CGB3_HUMAN	137	D	A	Polymorphism	-
P0DN86	CGB3_HUMAN	35	T	I	Polymorphism	-
P0DOY3	IGLC3_HUMAN	83	K	R	Polymorphism	-
P0DP23	CALM1_HUMAN	142	F	L	Disease	Long QT syndrome 14 (LQT14) [MIM:616247]
P0DP23	CALM1_HUMAN	98	N	S	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916]
P0DP23	CALM1_HUMAN	54	N	I	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916]
P0DP23	CALM1_HUMAN	141	E	G	Disease	Long QT syndrome 14 (LQT14) [MIM:616247]
P0DP23	CALM1_HUMAN	130	D	G	Disease	Long QT syndrome 14 (LQT14) [MIM:616247]
P0DP23	CALM1_HUMAN	90	F	L	Disease	Long QT syndrome 14 (LQT14) [MIM:616247]
P0DP24	CALM2_HUMAN	98	N	S	Disease	Long QT syndrome 15 (LQT15) [MIM:616249]
P0DP24	CALM2_HUMAN	132	D	E	Disease	Long QT syndrome 15 (LQT15) [MIM:616249]
P0DP24	CALM2_HUMAN	96	D	V	Disease	Long QT syndrome 15 (LQT15) [MIM:616249]
P0DP24	CALM2_HUMAN	134	D	H	Disease	Long QT syndrome 15 (LQT15) [MIM:616249]
P0DP24	CALM2_HUMAN	130	D	G	Disease	Long QT syndrome 15 (LQT15) [MIM:616249]
P0DP24	CALM2_HUMAN	130	D	V	Disease	Long QT syndrome 15 (LQT15) [MIM:616249]
P0DP24	CALM2_HUMAN	98	N	I	Disease	Long QT syndrome 15 (LQT15) [MIM:616249]
P0DP24	CALM2_HUMAN	136	Q	P	Disease	Long QT syndrome 15 (LQT15) [MIM:616249]
P0DP25	CALM3_HUMAN	103	A	V	Disease	-
P0DP91	ERPG3_HUMAN	746	G	D	Disease	Premature ovarian failure 11 (POF11) [MIM:616946]
P0DP91	ERPG3_HUMAN	850	R	K	Polymorphism	-
P0DP91	ERPG3_HUMAN	1056	V	I	Disease	Premature ovarian failure 11 (POF11) [MIM:616946]
P0DPB3	SCHI1_HUMAN	481	A	V	Polymorphism	-
P0DPB3	SCHI1_HUMAN	101	E	K	Polymorphism	-
P0DPB6	RPAC2_HUMAN	50	T	I	Disease	Treacher Collins syndrome 2 (TCS2) [MIM:613717]
P0DPB6	RPAC2_HUMAN	99	G	S	Disease	Treacher Collins syndrome 2 (TCS2) [MIM:613717]
P0DPB6	RPAC2_HUMAN	56	R	C	Disease	Treacher Collins syndrome 2 (TCS2) [MIM:613717]
P0DPB6	RPAC2_HUMAN	82	L	S	Disease	Treacher Collins syndrome 2 (TCS2) [MIM:613717]
P0DPB6	RPAC2_HUMAN	47	E	K	Disease	Treacher Collins syndrome 2 (TCS2) [MIM:613717]
P0DPB6	RPAC2_HUMAN	52	G	E	Disease	Treacher Collins syndrome 2 (TCS2) [MIM:613717]
P0DPB6	RPAC2_HUMAN	51	L	R	Disease	Treacher Collins syndrome 2 (TCS2) [MIM:613717]
P0DPD6	ECE2_HUMAN	499	R	Q	Polymorphism	-
P0DPD7	EFMT4_HUMAN	101	H	Y	Polymorphism	-
P0DPH7	TBA3C_HUMAN	75	V	L	Polymorphism	-
P0DPH7	TBA3C_HUMAN	392	D	V	Polymorphism	-
P0DPH7	TBA3C_HUMAN	440	V	M	Polymorphism	-
P0DPI2	GAL3A_HUMAN	248	L	V	Polymorphism	-
P0DPI2	GAL3A_HUMAN	148	V	M	Polymorphism	-
P0DSE1	TRAR1_HUMAN	110	G	A	Polymorphism	-
P0DSE2	TRBR1_HUMAN	114	I	S	Polymorphism	-
P10070	GLI2_HUMAN	1156	A	S	Polymorphism	-
P10070	GLI2_HUMAN	625	P	S	Polymorphism	-
P10070	GLI2_HUMAN	1306	D	N	Polymorphism	-
P10070	GLI2_HUMAN	579	S	I	Polymorphism	-
P10070	GLI2_HUMAN	1444	M	I	Polymorphism	-
P10070	GLI2_HUMAN	1543	R	H	Polymorphism	-
P10070	GLI2_HUMAN	516	R	P	Disease	Culler-Jones syndrome (CJS) [MIM:615849]
P10070	GLI2_HUMAN	1554	P	L	Unclassified	Holoprosencephaly 9 (HPE9) [MIM:610829]
P10070	GLI2_HUMAN	479	R	G	Unclassified	Holoprosencephaly 9 (HPE9) [MIM:610829]
P10070	GLI2_HUMAN	1520	D	N	Unclassified	Culler-Jones syndrome (CJS) [MIM:615849]
P10070	GLI2_HUMAN	932	P	S	Unclassified	Holoprosencephaly 9 (HPE9) [MIM:610829]
P10070	GLI2_HUMAN	449	D	H	Polymorphism	-
P10070	GLI2_HUMAN	608	P	L	Disease	Culler-Jones syndrome (CJS) [MIM:615849]
P10070	GLI2_HUMAN	1352	M	V	Unclassified	Culler-Jones syndrome (CJS) [MIM:615849]
P10071	GLI3_HUMAN	169	P	L	Unclassified	A colorectal cancer sample
P10071	GLI3_HUMAN	625	R	W	Disease	Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P10071	GLI3_HUMAN	520	C	Y	Disease	Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P10071	GLI3_HUMAN	727	G	R	Disease	Polydactyly, postaxial A1 (PAPA1) [MIM:174200]
P10071	GLI3_HUMAN	1537	R	C	Polymorphism	-
P10071	GLI3_HUMAN	998	P	L	Polymorphism	-
P10071	GLI3_HUMAN	1336	G	E	Polymorphism	-
P10071	GLI3_HUMAN	440	D	E	Polymorphism	-
P10071	GLI3_HUMAN	515	C	G	Disease	Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P10071	GLI3_HUMAN	727	G	R	Disease	Polydactyly, postaxial B (PAPB) [MIM:174200]
P10071	GLI3_HUMAN	183	T	A	Polymorphism	-
P10071	GLI3_HUMAN	1304	S	P	Unclassified	A colorectal cancer sample
P10071	GLI3_HUMAN	707	P	S	Disease	Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P10071	GLI3_HUMAN	934	A	P	Disease	Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P10071	GLI3_HUMAN	808	I	M	Polymorphism	-
P10072	ZN875_HUMAN	448	R	H	Polymorphism	-
P10072	ZN875_HUMAN	513	S	I	Polymorphism	-
P10072	ZN875_HUMAN	628	T	I	Polymorphism	-
P10074	TZAP_HUMAN	675	S	A	Polymorphism	-
P10075	GLI4_HUMAN	180	A	T	Polymorphism	-
P10082	PYY_HUMAN	95	D	H	Polymorphism	-
P10082	PYY_HUMAN	72	T	R	Polymorphism	-
P10082	PYY_HUMAN	37	R	G	Polymorphism	-
P10124	SRGN_HUMAN	31	R	Q	Polymorphism	-
P10144	GRAB_HUMAN	247	Y	H	Polymorphism	-
P10144	GRAB_HUMAN	55	R	Q	Polymorphism	-
P10144	GRAB_HUMAN	94	P	A	Polymorphism	-
P10147	CCL3_HUMAN	78	E	D	Polymorphism	-
P10153	RNAS2_HUMAN	156	H	N	Polymorphism	-
P10153	RNAS2_HUMAN	100	H	Q	Polymorphism	-
P10163	PRB4_HUMAN	186	P	R	Polymorphism	-
P10163	PRB4_HUMAN	200	P	H	Polymorphism	-
P10163	PRB4_HUMAN	185	R	G	Polymorphism	-
P10163	PRB4_HUMAN	272	A	P	Polymorphism	-
P10242	MYB_HUMAN	336	T	I	Polymorphism	-
P10242	MYB_HUMAN	422	T	N	Polymorphism	-
P10244	MYBB_HUMAN	341	N	S	Polymorphism	-
P10244	MYBB_HUMAN	427	S	G	Polymorphism	-
P10244	MYBB_HUMAN	624	I	M	Polymorphism	-
P10244	MYBB_HUMAN	595	V	M	Polymorphism	-
P10253	LYAG_HUMAN	599	S	Y	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	612	H	Y	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	437	R	H	Unclassified	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	600	R	C	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	612	H	Q	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	711	T	R	Polymorphism	-
P10253	LYAG_HUMAN	816	V	I	Polymorphism	-
P10253	LYAG_HUMAN	191	Y	C	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	103	C	G	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	309	G	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	374	C	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	648	G	D	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	522	P	S	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	575	Y	C	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	401	Q	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	702	R	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	552	L	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	293	G	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	949	V	D	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	648	G	S	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	600	R	H	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	457	P	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	672	R	T	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	575	Y	S	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	405	L	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	347	P	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	645	D	N	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	190	R	H	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	689	E	K	Polymorphism	-
P10253	LYAG_HUMAN	312	L	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	522	P	A	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	391	M	V	Unclassified	-
P10253	LYAG_HUMAN	927	T	I	Polymorphism	-
P10253	LYAG_HUMAN	635	N	K	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	525	F	Y	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	89	R	H	Polymorphism	-
P10253	LYAG_HUMAN	291	L	F	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	234	T	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	308	H	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	641	L	V	Unclassified	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	292	Y	C	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	718	V	I	Polymorphism	-
P10253	LYAG_HUMAN	594	R	H	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	643	G	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	746	W	S	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	316	N	I	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	572	H	Q	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	217	P	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	324	P	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	237	A	V	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	359	G	R	Polymorphism	-
P10253	LYAG_HUMAN	766	Y	C	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	299	L	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	355	L	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	455	Y	F	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	672	R	W	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	576	G	S	Polymorphism	-
P10253	LYAG_HUMAN	614	T	K	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	222	V	M	Polymorphism	-
P10253	LYAG_HUMAN	521	E	Q	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	262	E	K	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	725	R	W	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	705	L	P	Unclassified	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	251	S	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	103	C	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	780	V	I	Polymorphism	-
P10253	LYAG_HUMAN	74	R	H	Polymorphism	-
P10253	LYAG_HUMAN	746	W	G	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	768	P	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	638	G	V	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	602	T	A	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	545	P	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	224	R	Q	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	549	G	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	402	W	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	234	T	K	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	568	H	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	266	P	S	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	375	R	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	901	L	Q	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	615	G	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	819	R	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	672	R	Q	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	645	D	E	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	594	R	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	585	R	K	Polymorphism	-
P10253	LYAG_HUMAN	318	M	T	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	271	T	A	Polymorphism	-
P10253	LYAG_HUMAN	489	D	N	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	619	S	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	483	G	V	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	558	C	S	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	127	C	F	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	576	G	A	Polymorphism	-
P10253	LYAG_HUMAN	335	G	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	913	P	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	627	S	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	408	M	V	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	335	G	E	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	290	N	D	Polymorphism	-
P10253	LYAG_HUMAN	220	V	L	Polymorphism	-
P10253	LYAG_HUMAN	291	L	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	557	I	F	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	108	C	G	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	224	R	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	660	R	H	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	523	S	Y	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	916	V	F	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	566	S	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	746	W	C	Polymorphism	-
P10253	LYAG_HUMAN	611	G	D	Unclassified	-
P10253	LYAG_HUMAN	601	S	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	519	M	V	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	219	G	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	935	L	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	607	G	D	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	880	A	D	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	457	P	H	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	308	H	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	397	P	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	481	W	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	529	S	V	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	743	Q	K	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	478	G	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	610	A	V	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	254	S	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	486	A	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	377	G	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	224	R	W	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	404	D	N	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	223	R	H	Polymorphism	-
P10253	LYAG_HUMAN	570	N	K	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	458	Y	C	Polymorphism	-
P10253	LYAG_HUMAN	285	P	S	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	647	C	W	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	310	V	G	Unclassified	-
P10253	LYAG_HUMAN	737	T	N	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	330	W	G	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	419	D	V	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	361	P	L	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	445	A	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	629	P	L	Polymorphism	-
P10253	LYAG_HUMAN	576	G	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	702	R	C	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	199	H	R	Polymorphism	-
P10253	LYAG_HUMAN	437	R	C	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	579	E	K	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	91	D	N	Polymorphism	-
P10253	LYAG_HUMAN	318	M	K	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	585	R	M	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	208	L	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	519	M	T	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	482	P	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	638	G	W	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	46	S	P	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	521	E	K	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	645	D	H	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10253	LYAG_HUMAN	285	P	R	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
P10275	ANDR_HUMAN	755	F	V	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	744	G	V	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	763	L	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	729	L	S	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	764	Y	C	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	744	G	V	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	696	D	V	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	875	H	R	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	580	C	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	807	C	Y	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	605	D	Y	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	722	A	T	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	769	L	P	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	831	L	P	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	723	L	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	616	R	H	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	708	L	R	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	728	N	K	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	753	R	Q	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	821	G	A	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	773	E	G	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	678	L	P	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	726	F	L	Polymorphism	-
P10275	ANDR_HUMAN	751	G	D	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	734	Q	H	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	783	S	N	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	580	C	Y	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	738	I	T	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	750	M	V	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	733	D	N	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	828	F	V	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	911	K	R	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	764	Y	H	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	896	M	T	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	704	S	G	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	744	G	E	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	602	C	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	612	C	Y	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	789	R	S	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	727	R	L	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	725	G	D	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	764	Y	C	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	842	I	S	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	704	S	G	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	609	R	K	Unclassified	Breast cancer
P10275	ANDR_HUMAN	696	D	N	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	767	P	S	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	841	R	H	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	617	L	R	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	808	M	T	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	768	D	E	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	908	L	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	791	L	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	772	N	H	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	724	P	S	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	731	V	M	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	813	L	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	733	D	Y	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	583	F	S	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	912	V	L	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	760	S	P	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	588	A	S	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	808	M	V	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	616	R	P	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	794	E	D	Polymorphism	-
P10275	ANDR_HUMAN	598	S	T	Unclassified	-
P10275	ANDR_HUMAN	598	S	G	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	597	A	T	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	725	G	D	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	721	K	E	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	445	Q	R	Unclassified	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	918	H	R	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	665	I	N	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	609	R	K	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	760	S	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	841	R	G	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	755	F	L	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	611	N	T	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	792	S	P	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	617	L	P	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	773	E	A	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	616	R	H	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	620	C	Y	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	587	A	V	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	618	R	P	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	835	Y	C	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	822	L	V	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	756	T	A	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	815	S	N	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	832	R	Q	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	706	N	Y	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	815	S	N	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	841	R	S	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	583	F	Y	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	207	S	R	Polymorphism	-
P10275	ANDR_HUMAN	743	M	I	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	917	F	L	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	920	Q	R	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	665	I	N	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	581	K	R	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	855	R	K	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	832	R	L	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	752	W	R	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	755	F	L	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	857	F	L	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	766	A	T	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	871	A	G	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	775	R	H	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	712	Q	E	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	893	P	L	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	696	D	H	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	914	P	S	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	392	P	S	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	841	R	C	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	847	R	G	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	114	Q	H	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	866	S	P	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	742	W	R	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	808	M	R	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	64	Q	R	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	871	A	V	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	586	R	K	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	892	F	L	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	878	T	A	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	608	R	Q	Unclassified	Breast cancer
P10275	ANDR_HUMAN	582	V	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	745	L	F	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	765	F	L	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	743	M	V	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	182	K	R	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	766	A	V	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	882	L	V	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	745	L	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	749	A	V	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	750	M	I	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	216	G	R	Polymorphism	-
P10275	ANDR_HUMAN	268	M	T	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	870	I	M	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	618	R	P	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	646	A	D	Polymorphism	-
P10275	ANDR_HUMAN	257	L	P	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	758	V	A	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	630	R	Q	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	492	G	S	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	872	R	G	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	271	P	S	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	689	G	E	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	672	P	H	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	747	V	M	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	865	D	G	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	910	G	R	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	856	R	H	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	392	P	R	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	843	I	T	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	196	Q	R	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	757	N	S	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	899	I	T	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	878	T	S	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	875	H	Y	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	864	L	R	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	749	A	T	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	788	M	V	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	342	P	L	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	775	R	C	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	577	C	R	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	867	V	L	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	880	D	Y	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	856	R	C	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	759	N	T	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	890	V	M	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	560	C	Y	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	887	M	V	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	2	E	K	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	682	E	K	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	673	I	T	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	780	R	W	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	549	P	S	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	910	G	E	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	865	D	N	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	867	V	E	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	867	V	M	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	751	G	S	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	702	L	H	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	905	P	H	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	702	L	H	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	704	S	C	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	701	L	M	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	703	S	A	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	671	Q	R	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	795	F	S	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	897	A	T	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	576	T	A	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	867	V	M	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	575	L	P	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	569	G	V	Unclassified	-
P10275	ANDR_HUMAN	608	R	Q	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	718	K	E	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	903	Q	R	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	709	G	A	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	706	N	S	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	716	V	M	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	799	Q	E	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	684	G	A	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	781	M	I	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	905	P	S	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	572	Y	C	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	702	L	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	881	L	Q	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	713	L	F	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	781	M	I	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	57	L	Q	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	711	R	T	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	709	G	V	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	891	D	N	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	904	V	M	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	685	V	I	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	749	A	D	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	799	Q	E	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	648	S	N	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	890	V	M	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	574	A	D	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	785	C	Y	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	687	C	R	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	54	L	S	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	569	G	W	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	577	C	F	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	799	Q	E	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	775	R	H	Disease	Androgen insensitivity syndrome (AIS) [MIM:300068]
P10275	ANDR_HUMAN	750	M	V	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	631	K	T	Unclassified	Prostate cancer
P10275	ANDR_HUMAN	683	P	T	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	746	M	T	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	548	L	F	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	688	A	V	Disease	Androgen insensitivity, partial (PAIS) [MIM:312300]
P10275	ANDR_HUMAN	529	D	G	Unclassified	Prostate cancer
P10314	1A32_HUMAN	175	R	H	Polymorphism	-
P10314	1A32_HUMAN	121	M	I	Polymorphism	-
P10314	1A32_HUMAN	89	R	G	Polymorphism	-
P10314	1A32_HUMAN	168	Q	K	Polymorphism	-
P10314	1A32_HUMAN	133	L	F	Polymorphism	-
P10314	1A32_HUMAN	166	I	T	Polymorphism	-
P10314	1A32_HUMAN	185	E	D	Polymorphism	-
P10314	1A32_HUMAN	138	Q	R	Polymorphism	-
P10314	1A32_HUMAN	180	L	Q	Polymorphism	-
P10314	1A32_HUMAN	129	P	S	Polymorphism	-
P10314	1A32_HUMAN	176	V	E	Polymorphism	-
P10314	1A32_HUMAN	101	S	N	Polymorphism	-
P10314	1A32_HUMAN	151	N	K	Polymorphism	-
P10316	1A69_HUMAN	94	Q	H	Polymorphism	-
P10316	1A69_HUMAN	89	R	G	Polymorphism	-
P10316	1A69_HUMAN	101	D	N	Polymorphism	-
P10319	1B58_HUMAN	86	G	E	Polymorphism	-
P10319	1B58_HUMAN	171	W	L	Polymorphism	-
P10319	1B58_HUMAN	187	L	T	Polymorphism	-
P10319	1B58_HUMAN	121	R	W	Polymorphism	-
P10319	1B58_HUMAN	176	V	A	Polymorphism	-
P10321	1C07_HUMAN	208	P	H	Polymorphism	-
P10321	1C07_HUMAN	104	N	K	Polymorphism	-
P10321	1C07_HUMAN	97	A	T	Polymorphism	-
P10321	1C07_HUMAN	137	Y	H	Polymorphism	-
P10321	1C07_HUMAN	330	A	V	Polymorphism	-
P10321	1C07_HUMAN	272	V	M	Polymorphism	-
P10321	1C07_HUMAN	48	S	A	Polymorphism	-
P10321	1C07_HUMAN	123	S	F	Polymorphism	-
P10321	1C07_HUMAN	187	T	L	Polymorphism	-
P10321	1C07_HUMAN	123	S	Y	Polymorphism	-
P10321	1C07_HUMAN	76	V	M	Polymorphism	-
P10321	1C07_HUMAN	119	L	F	Polymorphism	-
P10321	1C07_HUMAN	90	K	N	Polymorphism	-
P10321	1C07_HUMAN	328	V	I	Polymorphism	-
P10321	1C07_HUMAN	180	L	D	Polymorphism	-
P10321	1C07_HUMAN	10	L	I	Polymorphism	-
P10321	1C07_HUMAN	331	M	V	Polymorphism	-
P10321	1C07_HUMAN	363	T	A	Polymorphism	-
P10321	1C07_HUMAN	123	S	C	Polymorphism	-
P10321	1C07_HUMAN	350	C	S	Polymorphism	-
P10321	1C07_HUMAN	48	S	P	Polymorphism	-
P10321	1C07_HUMAN	73	A	E	Polymorphism	-
P10321	1C07_HUMAN	48	S	T	Polymorphism	-
P10321	1C07_HUMAN	43	E	K	Polymorphism	-
P10321	1C07_HUMAN	201	E	K	Polymorphism	-
P10321	1C07_HUMAN	348	A	V	Polymorphism	-
P10321	1C07_HUMAN	171	L	W	Polymorphism	-
P10321	1C07_HUMAN	101	S	N	Polymorphism	-
P10321	1C07_HUMAN	331	M	K	Polymorphism	-
P10321	1C07_HUMAN	208	P	R	Polymorphism	-
P10321	1C07_HUMAN	140	S	F	Polymorphism	-
P10323	ACRO_HUMAN	120	L	V	Polymorphism	-
P10323	ACRO_HUMAN	166	F	L	Polymorphism	-
P10398	ARAF_HUMAN	98	M	T	Polymorphism	-
P10398	ARAF_HUMAN	578	E	D	Polymorphism	-
P10398	ARAF_HUMAN	331	G	C	Unclassified	A colorectal adenocarcinoma sample
P10412	H14_HUMAN	152	K	R	Polymorphism	-
P10412	H14_HUMAN	128	A	V	Unclassified	A colorectal cancer sample
P10415	BCL2_HUMAN	43	A	T	Polymorphism	-
P10415	BCL2_HUMAN	59	P	S	Unclassified	Non-Hodgkin lymphoma
P10415	BCL2_HUMAN	93	V	I	Unclassified	Non-Hodgkin lymphoma
P10415	BCL2_HUMAN	7	T	S	Polymorphism	-
P10451	OSTP_HUMAN	301	R	H	Polymorphism	-
P10451	OSTP_HUMAN	224	S	N	Polymorphism	-
P10515	ODP2_HUMAN	43	A	V	Polymorphism	-
P10515	ODP2_HUMAN	209	Q	R	Polymorphism	-
P10515	ODP2_HUMAN	318	V	A	Polymorphism	-
P10515	ODP2_HUMAN	451	D	N	Polymorphism	-
P10515	ODP2_HUMAN	99	L	F	Polymorphism	-
P10515	ODP2_HUMAN	313	D	V	Polymorphism	-
P10515	ODP2_HUMAN	98	S	F	Polymorphism	-
P10523	ARRS_HUMAN	403	V	I	Polymorphism	-
P10523	ARRS_HUMAN	125	T	M	Polymorphism	-
P10523	ARRS_HUMAN	384	R	C	Polymorphism	-
P10523	ARRS_HUMAN	84	R	C	Polymorphism	-
P10523	ARRS_HUMAN	378	V	I	Polymorphism	-
P10523	ARRS_HUMAN	364	P	L	Polymorphism	-
P10523	ARRS_HUMAN	76	I	V	Polymorphism	-
P10523	ARRS_HUMAN	403	V	A	Polymorphism	-
P10586	PTPRF_HUMAN	412	A	V	Polymorphism	-
P10586	PTPRF_HUMAN	450	Y	C	Polymorphism	-
P10586	PTPRF_HUMAN	562	D	N	Polymorphism	-
P10589	COT1_HUMAN	252	L	P	Disease	Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722]
P10589	COT1_HUMAN	115	R	P	Disease	Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722]
P10589	COT1_HUMAN	112	R	K	Disease	Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722]
P10589	COT1_HUMAN	113	S	R	Disease	Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722]
P10600	TGFB3_HUMAN	60	T	M	Polymorphism	-
P10600	TGFB3_HUMAN	409	C	Y	Disease	Loeys-Dietz syndrome 5 (LDS5) [MIM:615582]
P10619	PPGB_HUMAN	440	F	V	Disease	Galactosialidosis (GSL) [MIM:256540]
P10619	PPGB_HUMAN	65	W	R	Disease	Galactosialidosis (GSL) [MIM:256540]
P10619	PPGB_HUMAN	49	Q	R	Disease	Galactosialidosis (GSL) [MIM:256540]
P10619	PPGB_HUMAN	90	S	L	Disease	Galactosialidosis (GSL) [MIM:256540]
P10619	PPGB_HUMAN	249	Y	N	Disease	Galactosialidosis (GSL) [MIM:256540]
P10619	PPGB_HUMAN	406	M	T	Disease	Galactosialidosis (GSL) [MIM:256540]
P10619	PPGB_HUMAN	395	Y	C	Disease	Galactosialidosis (GSL) [MIM:256540]
P10619	PPGB_HUMAN	453	K	E	Disease	Galactosialidosis (GSL) [MIM:256540]
P10619	PPGB_HUMAN	51	S	Y	Disease	Galactosialidosis (GSL) [MIM:256540]
P10619	PPGB_HUMAN	132	V	M	Disease	Galactosialidosis (GSL) [MIM:256540]
P10619	PPGB_HUMAN	236	L	P	Disease	Galactosialidosis (GSL) [MIM:256540]
P10619	PPGB_HUMAN	439	G	S	Disease	Galactosialidosis (GSL) [MIM:256540]
P10632	CP2C8_HUMAN	411	H	L	Polymorphism	-
P10632	CP2C8_HUMAN	193	N	K	Polymorphism	-
P10632	CP2C8_HUMAN	249	K	R	Polymorphism	-
P10632	CP2C8_HUMAN	264	I	M	Polymorphism	-
P10632	CP2C8_HUMAN	269	I	F	Polymorphism	-
P10632	CP2C8_HUMAN	383	K	N	Polymorphism	-
P10632	CP2C8_HUMAN	154	E	D	Polymorphism	-
P10632	CP2C8_HUMAN	244	I	V	Polymorphism	-
P10632	CP2C8_HUMAN	247	K	R	Polymorphism	-
P10632	CP2C8_HUMAN	399	K	R	Polymorphism	-
P10632	CP2C8_HUMAN	390	L	S	Polymorphism	-
P10632	CP2C8_HUMAN	186	R	G	Polymorphism	-
P10632	CP2C8_HUMAN	223	I	M	Polymorphism	-
P10632	CP2C8_HUMAN	238	A	P	Polymorphism	-
P10632	CP2C8_HUMAN	171	G	S	Polymorphism	-
P10632	CP2C8_HUMAN	139	R	K	Polymorphism	-
P10635	CP2D6_HUMAN	311	S	L	Polymorphism	-
P10635	CP2D6_HUMAN	365	R	H	Polymorphism	-
P10635	CP2D6_HUMAN	336	D	N	Polymorphism	-
P10635	CP2D6_HUMAN	329	R	L	Polymorphism	-
P10635	CP2D6_HUMAN	297	I	L	Polymorphism	-
P10635	CP2D6_HUMAN	327	V	M	Polymorphism	-
P10635	CP2D6_HUMAN	215	E	K	Polymorphism	-
P10635	CP2D6_HUMAN	337	D	G	Polymorphism	-
P10635	CP2D6_HUMAN	155	E	K	Polymorphism	-
P10635	CP2D6_HUMAN	469	P	A	Polymorphism	-
P10635	CP2D6_HUMAN	249	T	P	Polymorphism	-
P10635	CP2D6_HUMAN	342	V	M	Polymorphism	-
P10635	CP2D6_HUMAN	237	A	S	Polymorphism	-
P10635	CP2D6_HUMAN	34	P	S	Polymorphism	-
P10635	CP2D6_HUMAN	91	L	M	Polymorphism	-
P10635	CP2D6_HUMAN	11	V	M	Polymorphism	-
P10635	CP2D6_HUMAN	147	K	R	Polymorphism	-
P10635	CP2D6_HUMAN	28	R	C	Polymorphism	-
P10635	CP2D6_HUMAN	164	F	L	Polymorphism	-
P10635	CP2D6_HUMAN	26	R	H	Polymorphism	-
P10635	CP2D6_HUMAN	5	A	V	Polymorphism	-
P10635	CP2D6_HUMAN	369	I	T	Polymorphism	-
P10635	CP2D6_HUMAN	94	H	R	Polymorphism	-
P10635	CP2D6_HUMAN	85	A	V	Polymorphism	-
P10635	CP2D6_HUMAN	161	C	S	Polymorphism	-
P10635	CP2D6_HUMAN	120	F	I	Polymorphism	-
P10635	CP2D6_HUMAN	457	F	L	Polymorphism	-
P10635	CP2D6_HUMAN	42	G	R	Polymorphism	-
P10635	CP2D6_HUMAN	296	R	C	Polymorphism	-
P10635	CP2D6_HUMAN	463	H	D	Polymorphism	-
P10635	CP2D6_HUMAN	300	A	G	Polymorphism	-
P10635	CP2D6_HUMAN	497	R	C	Polymorphism	-
P10635	CP2D6_HUMAN	142	L	S	Polymorphism	-
P10635	CP2D6_HUMAN	169	G	R	Polymorphism	-
P10635	CP2D6_HUMAN	478	H	Y	Polymorphism	-
P10635	CP2D6_HUMAN	418	E	K	Polymorphism	-
P10635	CP2D6_HUMAN	344	R	Q	Polymorphism	-
P10635	CP2D6_HUMAN	373	G	S	Polymorphism	-
P10635	CP2D6_HUMAN	486	S	T	Polymorphism	-
P10635	CP2D6_HUMAN	343	R	G	Polymorphism	-
P10635	CP2D6_HUMAN	324	H	P	Polymorphism	-
P10635	CP2D6_HUMAN	104	V	A	Polymorphism	-
P10635	CP2D6_HUMAN	212	G	E	Polymorphism	-
P10635	CP2D6_HUMAN	219	F	S	Polymorphism	-
P10635	CP2D6_HUMAN	231	L	P	Polymorphism	-
P10635	CP2D6_HUMAN	107	T	I	Polymorphism	-
P10635	CP2D6_HUMAN	440	R	C	Polymorphism	-
P10635	CP2D6_HUMAN	410	E	K	Polymorphism	-
P10635	CP2D6_HUMAN	25	R	Q	Polymorphism	-
P10636	TAU_HUMAN	613	N	H	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P10636	TAU_HUMAN	654	V	M	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P10636	TAU_HUMAN	574	K	T	Disease	Pick disease of the brain (PIDB) [MIM:172700]
P10636	TAU_HUMAN	5	R	H	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P10636	TAU_HUMAN	723	R	W	Polymorphism	-
P10636	TAU_HUMAN	17	T	M	Polymorphism	-
P10636	TAU_HUMAN	634	K	M	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P10636	TAU_HUMAN	447	S	P	Polymorphism	-
P10636	TAU_HUMAN	669	S	L	Polymorphism	-
P10636	TAU_HUMAN	617	V	I	Polymorphism	-
P10636	TAU_HUMAN	622	S	N	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P10636	TAU_HUMAN	370	R	W	Polymorphism	-
P10636	TAU_HUMAN	618	P	L	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P10636	TAU_HUMAN	637	S	F	Disease	Pick disease of the brain (PIDB) [MIM:172700]
P10636	TAU_HUMAN	285	D	N	Polymorphism	-
P10636	TAU_HUMAN	686	K	I	Disease	Pick disease of the brain (PIDB) [MIM:172700]
P10636	TAU_HUMAN	589	G	V	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P10636	TAU_HUMAN	583	L	V	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P10636	TAU_HUMAN	620	G	V	Disease	Progressive supranuclear palsy 1 (PSNP1) [MIM:601104]
P10636	TAU_HUMAN	30	T	A	Polymorphism	-
P10636	TAU_HUMAN	441	Y	H	Polymorphism	-
P10636	TAU_HUMAN	706	G	R	Disease	Pick disease of the brain (PIDB) [MIM:172700]
P10636	TAU_HUMAN	659	E	V	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P10636	TAU_HUMAN	5	R	L	Disease	Progressive supranuclear palsy 1 (PSNP1) [MIM:601104]
P10636	TAU_HUMAN	618	P	S	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P10636	TAU_HUMAN	289	V	A	Polymorphism	-
P10636	TAU_HUMAN	596	N	K	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P10643	CO7_HUMAN	420	K	Q	Polymorphism	-
P10643	CO7_HUMAN	687	R	H	Disease	Complement component 7 deficiency (C7D) [MIM:610102]
P10643	CO7_HUMAN	128	C	R	Polymorphism	-
P10643	CO7_HUMAN	587	T	P	Polymorphism	-
P10643	CO7_HUMAN	521	R	S	Disease	Complement component 7 deficiency (C7D) [MIM:610102]
P10643	CO7_HUMAN	389	S	T	Polymorphism	-
P10643	CO7_HUMAN	220	R	Q	Disease	Complement component 7 deficiency (C7D) [MIM:610102]
P10643	CO7_HUMAN	682	E	Q	Disease	Complement component 7 deficiency (C7D) [MIM:610102]
P10643	CO7_HUMAN	379	G	R	Disease	Complement component 7 deficiency (C7D) [MIM:610102]
P10643	CO7_HUMAN	222	R	H	Polymorphism	-
P10644	KAP0_HUMAN	146	R	S	Disease	Carney complex 1 (CNC1) [MIM:160980]
P10644	KAP0_HUMAN	328	A	V	Disease	Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
P10644	KAP0_HUMAN	227	D	N	Polymorphism	-
P10644	KAP0_HUMAN	183	D	Y	Disease	Carney complex 1 (CNC1) [MIM:160980]
P10644	KAP0_HUMAN	213	A	T	Disease	Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
P10644	KAP0_HUMAN	335	R	L	Disease	Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
P10644	KAP0_HUMAN	74	R	C	Disease	Carney complex 1 (CNC1) [MIM:160980]
P10644	KAP0_HUMAN	213	A	D	Disease	Carney complex 1 (CNC1) [MIM:160980]
P10644	KAP0_HUMAN	327	I	T	Disease	Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
P10644	KAP0_HUMAN	373	Y	H	Disease	Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
P10644	KAP0_HUMAN	373	Y	C	Disease	Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
P10644	KAP0_HUMAN	239	T	A	Disease	Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
P10644	KAP0_HUMAN	285	Q	R	Disease	Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
P10644	KAP0_HUMAN	9	S	N	Disease	Carney complex 1 (CNC1) [MIM:160980]
P10644	KAP0_HUMAN	175	Y	C	Disease	Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
P10644	KAP0_HUMAN	289	G	E	Disease	Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
P10644	KAP0_HUMAN	289	G	W	Disease	Carney complex 1 (CNC1) [MIM:160980]
P10644	KAP0_HUMAN	335	R	P	Disease	Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
P10645	CMGA_HUMAN	271	R	W	Polymorphism	-
P10645	CMGA_HUMAN	264	E	D	Polymorphism	-
P10645	CMGA_HUMAN	382	G	S	Polymorphism	-
P10645	CMGA_HUMAN	369	D	N	Polymorphism	-
P10645	CMGA_HUMAN	392	R	Q	Polymorphism	-
P10645	CMGA_HUMAN	176	E	K	Polymorphism	-
P10645	CMGA_HUMAN	274	A	G	Polymorphism	-
P10645	CMGA_HUMAN	61	R	Q	Polymorphism	-
P10645	CMGA_HUMAN	315	G	S	Polymorphism	-
P10645	CMGA_HUMAN	399	R	W	Polymorphism	-
P10645	CMGA_HUMAN	388	P	L	Polymorphism	-
P10645	CMGA_HUMAN	332	L	P	Polymorphism	-
P10646	TFPI1_HUMAN	292	V	M	Polymorphism	-
P10696	PPBN_HUMAN	527	G	E	Polymorphism	-
P10696	PPBN_HUMAN	316	L	R	Polymorphism	-
P10696	PPBN_HUMAN	273	L	M	Polymorphism	-
P10721	KIT_HUMAN	532	V	I	Polymorphism	-
P10721	KIT_HUMAN	816	D	F	Disease	Mastocytosis, cutaneous (MASTC) [MIM:154800]
P10721	KIT_HUMAN	559	V	D	Disease	Gastrointestinal stromal tumor (GIST) [MIM:606764]
P10721	KIT_HUMAN	847	T	P	Disease	Piebald trait (PBT) [MIM:172800]
P10721	KIT_HUMAN	820	D	G	Polymorphism	-
P10721	KIT_HUMAN	550	K	I	Disease	Gastrointestinal stromal tumor (GIST) [MIM:606764]
P10721	KIT_HUMAN	541	M	L	Polymorphism	-
P10721	KIT_HUMAN	816	D	H	Unclassified	A testicular tumor
P10721	KIT_HUMAN	584	F	C	Disease	Piebald trait (PBT) [MIM:172800]
P10721	KIT_HUMAN	656	L	P	Disease	Piebald trait (PBT) [MIM:172800]
P10721	KIT_HUMAN	601	G	R	Disease	Piebald trait (PBT) [MIM:172800]
P10721	KIT_HUMAN	816	D	Y	Disease	Mastocytosis, systemic (MASTSYS) [MIM:154800]
P10721	KIT_HUMAN	822	N	K	Unclassified	A germ cell tumor of the testis
P10721	KIT_HUMAN	829	A	P	Unclassified	A germ cell tumor of the testis
P10721	KIT_HUMAN	796	R	G	Disease	Piebald trait (PBT) [MIM:172800]
P10721	KIT_HUMAN	804	R	W	Unclassified	A colorectal adenocarcinoma sample
P10721	KIT_HUMAN	559	V	A	Disease	Gastrointestinal stromal tumor (GIST) [MIM:606764]
P10721	KIT_HUMAN	715	S	N	Polymorphism	-
P10721	KIT_HUMAN	816	D	V	Disease	Mastocytosis, systemic (MASTSYS) [MIM:154800]
P10721	KIT_HUMAN	816	D	I	Disease	Mastocytosis, cutaneous (MASTC) [MIM:154800]
P10721	KIT_HUMAN	541	M	V	Polymorphism	-
P10721	KIT_HUMAN	812	G	V	Disease	Piebald trait (PBT) [MIM:172800]
P10721	KIT_HUMAN	816	D	Y	Disease	Mastocytosis, cutaneous (MASTC) [MIM:154800]
P10721	KIT_HUMAN	451	S	C	Unclassified	Mastocytosis, cutaneous (MASTC) [MIM:154800]
P10721	KIT_HUMAN	533	A	D	Unclassified	Mastocytosis, cutaneous (MASTC) [MIM:154800]
P10721	KIT_HUMAN	822	N	I	Disease	Mastocytosis, cutaneous (MASTC) [MIM:154800]
P10721	KIT_HUMAN	839	E	K	Disease	Mastocytosis, cutaneous (MASTC) [MIM:154800]
P10721	KIT_HUMAN	737	D	N	Unclassified	A colorectal adenocarcinoma sample
P10721	KIT_HUMAN	584	F	L	Disease	Piebald trait (PBT) [MIM:172800]
P10721	KIT_HUMAN	816	D	V	Disease	Mastocytosis, cutaneous (MASTC) [MIM:154800]
P10721	KIT_HUMAN	791	R	G	Disease	Piebald trait (PBT) [MIM:172800]
P10721	KIT_HUMAN	583	E	K	Disease	Piebald trait (PBT) [MIM:172800]
P10721	KIT_HUMAN	691	C	S	Polymorphism	-
P10721	KIT_HUMAN	664	G	R	Disease	Piebald trait (PBT) [MIM:172800]
P10721	KIT_HUMAN	816	D	V	Unclassified	Mast cell leukemia
P10745	RET3_HUMAN	1194	T	M	Polymorphism	-
P10745	RET3_HUMAN	443	R	S	Polymorphism	-
P10745	RET3_HUMAN	963	T	I	Polymorphism	-
P10745	RET3_HUMAN	688	A	V	Polymorphism	-
P10745	RET3_HUMAN	267	R	Q	Polymorphism	-
P10745	RET3_HUMAN	921	S	R	Polymorphism	-
P10745	RET3_HUMAN	1021	S	Y	Polymorphism	-
P10745	RET3_HUMAN	956	E	K	Polymorphism	-
P10745	RET3_HUMAN	1059	V	I	Polymorphism	-
P10745	RET3_HUMAN	321	T	I	Polymorphism	-
P10745	RET3_HUMAN	884	V	M	Polymorphism	-
P10745	RET3_HUMAN	518	Q	R	Polymorphism	-
P10745	RET3_HUMAN	535	R	C	Polymorphism	-
P10745	RET3_HUMAN	433	S	L	Polymorphism	-
P10745	RET3_HUMAN	741	G	S	Polymorphism	-
P10745	RET3_HUMAN	505	H	L	Polymorphism	-
P10745	RET3_HUMAN	379	A	T	Polymorphism	-
P10745	RET3_HUMAN	835	G	S	Polymorphism	-
P10745	RET3_HUMAN	593	V	A	Polymorphism	-
P10745	RET3_HUMAN	346	R	H	Polymorphism	-
P10745	RET3_HUMAN	599	I	V	Polymorphism	-
P10745	RET3_HUMAN	1080	D	N	Disease	Retinitis pigmentosa 66 (RP66) [MIM:615233]
P10745	RET3_HUMAN	530	R	H	Unclassified	A colorectal cancer sample
P10745	RET3_HUMAN	282	V	M	Polymorphism	-
P10745	RET3_HUMAN	747	R	C	Polymorphism	-
P10745	RET3_HUMAN	833	R	C	Polymorphism	-
P10745	RET3_HUMAN	615	A	V	Polymorphism	-
P10745	RET3_HUMAN	523	H	Q	Polymorphism	-
P10745	RET3_HUMAN	325	A	T	Polymorphism	-
P10745	RET3_HUMAN	903	T	R	Polymorphism	-
P10745	RET3_HUMAN	163	S	P	Polymorphism	-
P10745	RET3_HUMAN	785	N	K	Polymorphism	-
P10745	RET3_HUMAN	693	V	M	Polymorphism	-
P10745	RET3_HUMAN	544	R	H	Polymorphism	-
P10745	RET3_HUMAN	723	P	L	Polymorphism	-
P10745	RET3_HUMAN	18	G	V	Polymorphism	-
P10745	RET3_HUMAN	155	V	M	Polymorphism	-
P10745	RET3_HUMAN	122	R	H	Polymorphism	-
P10745	RET3_HUMAN	196	V	M	Polymorphism	-
P10745	RET3_HUMAN	614	D	N	Polymorphism	-
P10745	RET3_HUMAN	675	T	I	Polymorphism	-
P10746	HEM4_HUMAN	73	C	R	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	188	G	R	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	228	T	M	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	47	S	P	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	225	G	S	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	248	P	Q	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	104	A	V	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	212	S	P	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	82	V	F	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	19	Y	C	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	3	V	F	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	171	V	G	Polymorphism	-
P10746	HEM4_HUMAN	129	I	T	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	188	G	W	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	62	T	A	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	69	A	T	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	219	I	S	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	4	L	F	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	66	A	V	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	124	K	R	Polymorphism	-
P10746	HEM4_HUMAN	237	L	P	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	99	V	A	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10746	HEM4_HUMAN	53	P	L	Disease	Congenital erythropoietic porphyria (CEP) [MIM:263700]
P10767	FGF6_HUMAN	63	A	V	Polymorphism	-
P10767	FGF6_HUMAN	191	R	W	Polymorphism	-
P10767	FGF6_HUMAN	36	V	A	Polymorphism	-
P10767	FGF6_HUMAN	174	D	V	Polymorphism	-
P10768	ESTD_HUMAN	257	G	D	Polymorphism	-
P10768	ESTD_HUMAN	190	G	E	Polymorphism	-
P10809	CH60_HUMAN	29	D	G	Disease	Leukodystrophy, hypomyelinating, 4 (HLD4) [MIM:612233]
P10809	CH60_HUMAN	98	V	I	Disease	Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280]
P10826	RARB_HUMAN	303	G	A	Disease	Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524]
P10826	RARB_HUMAN	220	L	P	Disease	Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524]
P10826	RARB_HUMAN	90	V	I	Unclassified	A colorectal cancer sample
P10826	RARB_HUMAN	394	R	S	Disease	Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524]
P10826	RARB_HUMAN	394	R	C	Disease	Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524]
P10827	THA_HUMAN	263	A	V	Disease	Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450]
P10827	THA_HUMAN	359	N	Y	Disease	Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450]
P10828	THB_HUMAN	442	M	V	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	446	C	R	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	426	T	I	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	332	G	R	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	443	K	E	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	347	G	E	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	337	T	I	Polymorphism	-
P10828	THB_HUMAN	345	G	V	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	453	P	S	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	453	P	H	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	341	L	P	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	316	R	H	Disease	Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]
P10828	THB_HUMAN	342	K	I	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	438	R	H	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	338	R	W	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	243	R	W	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	340	Q	H	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	320	R	H	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	320	R	C	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	216	D	G	Polymorphism	-
P10828	THB_HUMAN	429	R	Q	Disease	Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]
P10828	THB_HUMAN	317	A	T	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	268	A	G	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	453	P	L	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	453	P	T	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	447	P	T	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	234	A	T	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	459	F	C	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	345	G	S	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	331	N	D	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	348	V	E	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	345	G	R	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	335	A	P	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	431	I	M	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10828	THB_HUMAN	346	L	F	Disease	Generalized thyroid hormone resistance (GTHR) [MIM:188570]
P10909	CLUS_HUMAN	396	S	L	Polymorphism	-
P10909	CLUS_HUMAN	328	D	N	Polymorphism	-
P10909	CLUS_HUMAN	317	N	H	Polymorphism	-
P10912	GHR_HUMAN	89	R	K	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	162	V	I	Unclassified	-
P10912	GHR_HUMAN	173	V	G	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	179	R	C	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	62	E	K	Disease	Growth hormone insensitivity, partial (GHIP) [MIM:604271]
P10912	GHR_HUMAN	544	I	L	Polymorphism	-
P10912	GHR_HUMAN	495	P	T	Polymorphism	-
P10912	GHR_HUMAN	242	E	D	Unclassified	-
P10912	GHR_HUMAN	179	R	C	Disease	Growth hormone insensitivity, partial (GHIP) [MIM:604271]
P10912	GHR_HUMAN	229	R	H	Unclassified	-
P10912	GHR_HUMAN	226	Y	C	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	68	W	R	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	229	R	G	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	114	F	S	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	56	C	S	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	440	C	F	Polymorphism	-
P10912	GHR_HUMAN	58	S	L	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	179	R	H	Polymorphism	-
P10912	GHR_HUMAN	170	D	H	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	162	V	D	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	465	E	K	Polymorphism	-
P10912	GHR_HUMAN	171	I	T	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	244	S	I	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	162	V	F	Polymorphism	-
P10912	GHR_HUMAN	143	V	A	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	262	D	N	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	172	Q	P	Disease	Laron syndrome (LARS) [MIM:262500]
P10912	GHR_HUMAN	579	P	T	Polymorphism	-
P10912	GHR_HUMAN	149	P	Q	Disease	Laron syndrome (LARS) [MIM:262500]
P10914	IRF1_HUMAN	11	W	R	Disease	Gastric cancer (GASC) [MIM:613659]
P10914	IRF1_HUMAN	8	M	L	Disease	Gastric cancer (GASC) [MIM:613659]
P10915	HPLN1_HUMAN	281	N	S	Polymorphism	-
P10915	HPLN1_HUMAN	333	R	H	Unclassified	A colorectal cancer sample
P10916	MLRV_HUMAN	166	D	V	Disease	Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758]
P10916	MLRV_HUMAN	18	F	L	Disease	Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758]
P10916	MLRV_HUMAN	57	G	R	Polymorphism	-
P10916	MLRV_HUMAN	22	E	K	Disease	Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758]
P10916	MLRV_HUMAN	13	A	T	Disease	Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758]
P10916	MLRV_HUMAN	58	R	Q	Disease	Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758]
P10916	MLRV_HUMAN	95	P	A	Disease	Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758]
P10997	IAPP_HUMAN	53	S	G	Polymorphism	-
P11021	BIP_HUMAN	543	N	H	Polymorphism	-
P11047	LAMC1_HUMAN	731	E	K	Polymorphism	-
P11047	LAMC1_HUMAN	363	H	L	Unclassified	-
P11047	LAMC1_HUMAN	888	L	P	Polymorphism	-
P11047	LAMC1_HUMAN	1116	R	H	Unclassified	A colorectal cancer sample
P11047	LAMC1_HUMAN	458	I	V	Polymorphism	-
P11047	LAMC1_HUMAN	1121	R	Q	Polymorphism	-
P11055	MYH3_HUMAN	261	S	F	Disease	Arthrogryposis, distal, 2B (DA2B) [MIM:601680]
P11055	MYH3_HUMAN	1003	A	V	Polymorphism	-
P11055	MYH3_HUMAN	838	K	E	Disease	Arthrogryposis, distal, 2B (DA2B) [MIM:601680]
P11055	MYH3_HUMAN	1075	Q	P	Disease	Arthrogryposis, distal, 8 (DA8) [MIM:178110]
P11055	MYH3_HUMAN	769	G	V	Disease	Arthrogryposis, distal, 2B (DA2B) [MIM:601680]
P11055	MYH3_HUMAN	825	V	D	Disease	Arthrogryposis, distal, 2A (DA2A) [MIM:193700]
P11055	MYH3_HUMAN	1137	R	C	Polymorphism	-
P11055	MYH3_HUMAN	178	T	I	Disease	Arthrogryposis, distal, 2B (DA2B) [MIM:601680]
P11055	MYH3_HUMAN	1192	A	T	Polymorphism	-
P11055	MYH3_HUMAN	292	S	C	Disease	Arthrogryposis, distal, 2B (DA2B) [MIM:601680]
P11055	MYH3_HUMAN	498	E	G	Disease	Arthrogryposis, distal, 2A (DA2A) [MIM:193700]
P11055	MYH3_HUMAN	583	Y	S	Disease	Arthrogryposis, distal, 2A (DA2A) [MIM:193700]
P11055	MYH3_HUMAN	672	R	H	Disease	Arthrogryposis, distal, 2A (DA2A) [MIM:193700]
P11055	MYH3_HUMAN	178	T	I	Disease	Arthrogryposis, distal, 2A (DA2A) [MIM:193700]
P11055	MYH3_HUMAN	517	D	Y	Disease	Arthrogryposis, distal, 2B (DA2B) [MIM:601680]
P11055	MYH3_HUMAN	1637	A	V	Polymorphism	-
P11055	MYH3_HUMAN	1313	T	I	Polymorphism	-
P11055	MYH3_HUMAN	375	E	K	Disease	Arthrogryposis, distal, 2B (DA2B) [MIM:601680]
P11055	MYH3_HUMAN	672	R	C	Disease	Arthrogryposis, distal, 2A (DA2A) [MIM:193700]
P11055	MYH3_HUMAN	1622	D	A	Polymorphism	-
P11086	PNMT_HUMAN	9	N	S	Polymorphism	-
P11086	PNMT_HUMAN	188	S	C	Polymorphism	-
P11086	PNMT_HUMAN	211	L	H	Polymorphism	-
P11086	PNMT_HUMAN	217	L	Q	Polymorphism	-
P11086	PNMT_HUMAN	276	W	R	Polymorphism	-
P11086	PNMT_HUMAN	112	R	C	Polymorphism	-
P11086	PNMT_HUMAN	98	T	A	Polymorphism	-
P11086	PNMT_HUMAN	254	R	H	Polymorphism	-
P11086	PNMT_HUMAN	175	A	T	Polymorphism	-
P11117	PPAL_HUMAN	320	S	F	Polymorphism	-
P11117	PPAL_HUMAN	29	R	Q	Polymorphism	-
P11117	PPAL_HUMAN	402	V	I	Polymorphism	-
P11137	MTAP2_HUMAN	179	E	G	Polymorphism	-
P11137	MTAP2_HUMAN	277	E	D	Unclassified	A colorectal cancer sample
P11137	MTAP2_HUMAN	82	A	G	Polymorphism	-
P11137	MTAP2_HUMAN	423	R	K	Polymorphism	-
P11137	MTAP2_HUMAN	705	P	L	Unclassified	A colorectal cancer sample
P11137	MTAP2_HUMAN	976	H	L	Polymorphism	-
P11137	MTAP2_HUMAN	1099	M	V	Polymorphism	-
P11137	MTAP2_HUMAN	991	G	R	Polymorphism	-
P11142	HSP7C_HUMAN	459	F	L	Polymorphism	-
P11142	HSP7C_HUMAN	32	D	Y	Polymorphism	-
P11150	LIPC_HUMAN	289	S	F	Disease	Hepatic lipase deficiency (HL deficiency) [MIM:614025]
P11150	LIPC_HUMAN	342	V	I	Polymorphism	-
P11150	LIPC_HUMAN	405	T	M	Disease	Hepatic lipase deficiency (HL deficiency) [MIM:614025]
P11150	LIPC_HUMAN	440	S	N	Polymorphism	-
P11150	LIPC_HUMAN	409	D	A	Polymorphism	-
P11150	LIPC_HUMAN	356	F	L	Polymorphism	-
P11150	LIPC_HUMAN	95	V	M	Polymorphism	-
P11150	LIPC_HUMAN	215	N	S	Polymorphism	-
P11161	EGR2_HUMAN	381	R	H	Disease	Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678]
P11161	EGR2_HUMAN	409	R	W	Disease	Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678]
P11161	EGR2_HUMAN	359	R	W	Disease	Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678]
P11161	EGR2_HUMAN	355	D	V	Disease	Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678]
P11161	EGR2_HUMAN	359	R	W	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P11161	EGR2_HUMAN	383	D	Y	Disease	Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678]
P11161	EGR2_HUMAN	268	I	N	Disease	Neuropathy, congenital hypomyelinating, 1, autosomal recessive (CHN1) [MIM:605253]
P11161	EGR2_HUMAN	381	R	C	Disease	Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678]
P11166	GTR1_HUMAN	333	R	W	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	126	R	C	Disease	Dystonia 9 (DYT9) [MIM:601042]
P11166	GTR1_HUMAN	286	G	D	Disease	Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN) [MIM:608885]
P11166	GTR1_HUMAN	126	R	C	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	34	N	I	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	405	A	D	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	34	N	Y	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	96	M	V	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	303	V	L	Polymorphism	-
P11166	GTR1_HUMAN	126	R	C	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	155	A	V	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	232	R	C	Disease	Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
P11166	GTR1_HUMAN	317	N	T	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	223	R	W	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	218	R	S	Disease	Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
P11166	GTR1_HUMAN	382	G	D	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	93	R	W	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	324	S	L	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	153	R	H	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	60	T	M	Unclassified	Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
P11166	GTR1_HUMAN	310	T	I	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	51	R	H	Unclassified	Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
P11166	GTR1_HUMAN	34	N	S	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	485	P	L	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	329	E	Q	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	223	R	Q	Unclassified	Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
P11166	GTR1_HUMAN	333	R	Q	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	92	R	W	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	77	M	T	Disease	Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
P11166	GTR1_HUMAN	411	N	S	Disease	Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
P11166	GTR1_HUMAN	243	E	V	Disease	Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
P11166	GTR1_HUMAN	149	P	A	Unclassified	Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
P11166	GTR1_HUMAN	294	S	P	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	126	R	H	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	223	R	P	Disease	Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
P11166	GTR1_HUMAN	153	R	C	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	314	G	S	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	468	R	W	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	458	R	W	Disease	Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]
P11166	GTR1_HUMAN	165	V	I	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	256	K	E	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	333	R	Q	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	146	E	K	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	275	A	T	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11166	GTR1_HUMAN	130	G	S	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	212	R	H	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	212	R	C	Disease	Dystonia 9 (DYT9) [MIM:601042]
P11166	GTR1_HUMAN	212	R	C	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	91	G	D	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	66	S	F	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	295	T	M	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	126	R	L	Disease	GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]
P11166	GTR1_HUMAN	95	S	I	Disease	GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]
P11168	GTR2_HUMAN	197	V	I	Polymorphism	-
P11168	GTR2_HUMAN	423	V	E	Disease	Fanconi-Bickel syndrome (FBS) [MIM:227810]
P11168	GTR2_HUMAN	101	V	I	Polymorphism	-
P11168	GTR2_HUMAN	417	P	L	Disease	Fanconi-Bickel syndrome (FBS) [MIM:227810]
P11168	GTR2_HUMAN	478	L	V	Polymorphism	-
P11168	GTR2_HUMAN	68	P	L	Polymorphism	-
P11168	GTR2_HUMAN	389	L	P	Disease	Fanconi-Bickel syndrome (FBS) [MIM:227810]
P11168	GTR2_HUMAN	404	I	T	Polymorphism	-
P11168	GTR2_HUMAN	110	T	I	Polymorphism	-
P11169	GTR3_HUMAN	85	V	L	Polymorphism	-
P11171	41_HUMAN	214	V	I	Polymorphism	-
P11172	UMPS_HUMAN	109	V	G	Disease	Orotic aciduria 1 (ORAC1) [MIM:258900]
P11172	UMPS_HUMAN	30	S	G	Polymorphism	-
P11172	UMPS_HUMAN	213	G	A	Polymorphism	-
P11172	UMPS_HUMAN	96	R	G	Disease	Orotic aciduria 1 (ORAC1) [MIM:258900]
P11172	UMPS_HUMAN	429	G	R	Disease	Orotic aciduria 1 (ORAC1) [MIM:258900]
P11172	UMPS_HUMAN	446	I	V	Polymorphism	-
P11177	ODPB_HUMAN	132	Y	C	Disease	Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111]
P11177	ODPB_HUMAN	31	L	V	Polymorphism	-
P11177	ODPB_HUMAN	344	P	S	Disease	Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111]
P11182	ODB2_HUMAN	98	I	M	Disease	Maple syrup urine disease 2 (MSUD2) [MIM:248600]
P11182	ODB2_HUMAN	276	F	C	Disease	Maple syrup urine disease 2 (MSUD2) [MIM:248600]
P11182	ODB2_HUMAN	384	G	S	Disease	Maple syrup urine disease 2 (MSUD2) [MIM:248600]
P11215	ITAM_HUMAN	441	M	T	Polymorphism	-
P11215	ITAM_HUMAN	858	A	V	Polymorphism	-
P11215	ITAM_HUMAN	1146	P	S	Polymorphism	-
P11215	ITAM_HUMAN	77	R	H	Polymorphism	-
P11216	PYGB_HUMAN	502	D	N	Polymorphism	-
P11216	PYGB_HUMAN	303	A	S	Polymorphism	-
P11217	PYGM_HUMAN	194	R	W	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	660	A	D	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	349	E	K	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	116	L	P	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	686	G	R	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	292	L	P	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	543	K	T	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	397	L	P	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	655	E	K	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	602	R	W	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	488	T	N	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	414	R	G	Polymorphism	-
P11217	PYGM_HUMAN	798	W	R	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	687	A	P	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	704	A	V	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	685	N	Y	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	205	G	S	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11217	PYGM_HUMAN	666	Q	E	Disease	Glycogen storage disease 5 (GSD5) [MIM:232600]
P11226	MBL2_HUMAN	54	G	D	Polymorphism	-
P11226	MBL2_HUMAN	52	R	C	Polymorphism	-
P11226	MBL2_HUMAN	24	T	A	Unclassified	-
P11226	MBL2_HUMAN	214	N	Y	Polymorphism	-
P11226	MBL2_HUMAN	57	G	E	Polymorphism	-
P11230	ACHB_HUMAN	124	D	Y	Polymorphism	-
P11230	ACHB_HUMAN	289	V	M	Disease	Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313]
P11230	ACHB_HUMAN	285	L	M	Disease	Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313]
P11230	ACHB_HUMAN	289	V	A	Disease	Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313]
P11230	ACHB_HUMAN	32	E	G	Polymorphism	-
P11245	ARY2_HUMAN	114	I	T	Polymorphism	-
P11245	ARY2_HUMAN	64	R	Q	Polymorphism	-
P11245	ARY2_HUMAN	197	R	Q	Polymorphism	-
P11245	ARY2_HUMAN	286	G	E	Polymorphism	-
P11245	ARY2_HUMAN	228	P	L	Polymorphism	-
P11245	ARY2_HUMAN	145	Q	P	Polymorphism	-
P11245	ARY2_HUMAN	122	D	N	Polymorphism	-
P11245	ARY2_HUMAN	282	K	T	Polymorphism	-
P11245	ARY2_HUMAN	64	R	W	Polymorphism	-
P11245	ARY2_HUMAN	135	L	V	Polymorphism	-
P11245	ARY2_HUMAN	193	T	M	Polymorphism	-
P11245	ARY2_HUMAN	137	L	F	Polymorphism	-
P11245	ARY2_HUMAN	208	Y	H	Polymorphism	-
P11245	ARY2_HUMAN	24	L	I	Polymorphism	-
P11245	ARY2_HUMAN	280	V	M	Polymorphism	-
P11245	ARY2_HUMAN	268	K	R	Polymorphism	-
P11274	BCR_HUMAN	413	I	M	Polymorphism	-
P11274	BCR_HUMAN	1104	A	G	Polymorphism	-
P11274	BCR_HUMAN	1037	E	K	Polymorphism	-
P11274	BCR_HUMAN	1106	D	N	Polymorphism	-
P11274	BCR_HUMAN	1096	T	A	Polymorphism	-
P11274	BCR_HUMAN	1091	V	M	Polymorphism	-
P11274	BCR_HUMAN	796	N	S	Polymorphism	-
P11274	BCR_HUMAN	1149	A	T	Polymorphism	-
P11274	BCR_HUMAN	910	Y	C	Polymorphism	-
P11274	BCR_HUMAN	1161	E	K	Polymorphism	-
P11274	BCR_HUMAN	949	V	I	Polymorphism	-
P11274	BCR_HUMAN	1235	W	R	Polymorphism	-
P11274	BCR_HUMAN	1127	T	M	Polymorphism	-
P11274	BCR_HUMAN	1189	V	M	Polymorphism	-
P11274	BCR_HUMAN	400	S	P	Unclassified	A bladder transitional cell carcinoma sample
P11274	BCR_HUMAN	558	K	T	Polymorphism	-
P11274	BCR_HUMAN	1187	K	E	Polymorphism	-
P11274	BCR_HUMAN	1204	A	G	Polymorphism	-
P11274	BCR_HUMAN	752	D	E	Polymorphism	-
P11277	SPTB1_HUMAN	1408	G	R	Polymorphism	-
P11277	SPTB1_HUMAN	525	E	K	Polymorphism	-
P11277	SPTB1_HUMAN	1403	R	Q	Polymorphism	-
P11277	SPTB1_HUMAN	1374	H	R	Polymorphism	-
P11277	SPTB1_HUMAN	613	S	I	Polymorphism	-
P11277	SPTB1_HUMAN	1151	N	D	Polymorphism	-
P11277	SPTB1_HUMAN	2025	L	R	Disease	Elliptocytosis 3 (EL3) [MIM:617948]
P11277	SPTB1_HUMAN	2019	S	P	Disease	Elliptocytosis 3 (EL3) [MIM:617948]
P11277	SPTB1_HUMAN	2024	W	R	Disease	Elliptocytosis 3 (EL3) [MIM:617948]
P11277	SPTB1_HUMAN	2018	A	G	Disease	Elliptocytosis 3 (EL3) [MIM:617948]
P11277	SPTB1_HUMAN	202	W	R	Disease	Spherocytosis 2 (SPH2) [MIM:616649]
P11277	SPTB1_HUMAN	439	S	N	Polymorphism	-
P11277	SPTB1_HUMAN	2023	A	V	Disease	Elliptocytosis 3 (EL3) [MIM:617948]
P11277	SPTB1_HUMAN	2053	A	P	Disease	Elliptocytosis 3 (EL3) [MIM:617948]
P11279	LAMP1_HUMAN	309	I	T	Polymorphism	-
P11309	PIM1_HUMAN	135	E	K	Polymorphism	-
P11309	PIM1_HUMAN	53	Y	H	Unclassified	A colorectal adenocarcinoma sample
P11309	PIM1_HUMAN	124	E	Q	Polymorphism	-
P11309	PIM1_HUMAN	142	E	D	Polymorphism	-
P11310	ACADM_HUMAN	267	G	R	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	149	M	I	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	326	M	T	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	67	Y	H	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	310	G	R	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	375	I	T	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	206	R	L	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	281	R	T	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	245	S	L	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	244	C	R	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	336	S	R	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	195	G	R	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	116	C	Y	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	121	T	I	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	78	I	T	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	329	K	E	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	193	T	A	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	352	Y	C	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11310	ACADM_HUMAN	132	P	R	Unclassified	A breast cancer sample
P11310	ACADM_HUMAN	53	R	C	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
P11362	FGFR1_HUMAN	191	L	S	Disease	Hartsfield syndrome (HRTFDS) [MIM:615465]
P11362	FGFR1_HUMAN	628	N	K	Disease	Hartsfield syndrome (HRTFDS) [MIM:615465]
P11362	FGFR1_HUMAN	250	R	W	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	270	G	D	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	561	V	M	Polymorphism	-
P11362	FGFR1_HUMAN	703	G	S	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	174	V	A	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	237	G	S	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	671	A	P	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	252	P	R	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P11362	FGFR1_HUMAN	273	V	M	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	70	G	R	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	245	L	P	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	77	N	K	Polymorphism	-
P11362	FGFR1_HUMAN	4	W	C	Unclassified	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	167	A	S	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	490	G	R	Disease	Hartsfield syndrome (HRTFDS) [MIM:615465]
P11362	FGFR1_HUMAN	623	D	Y	Disease	Hartsfield syndrome (HRTFDS) [MIM:615465]
P11362	FGFR1_HUMAN	346	S	C	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	97	G	D	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	332	S	C	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	228	Y	D	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	627	R	T	Disease	Hartsfield syndrome (HRTFDS) [MIM:615465]
P11362	FGFR1_HUMAN	99	Y	C	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	719	M	V	Unclassified	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	656	K	E	Disease	Encephalocraniocutaneous lipomatosis (ECCL) [MIM:613001]
P11362	FGFR1_HUMAN	277	C	Y	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	116	V	I	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	621	H	R	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	254	R	Q	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	96	S	C	Unclassified	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	666	W	R	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	703	G	R	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	719	M	R	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	618	K	N	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	237	G	D	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	366	P	L	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	239	I	T	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	22	R	S	Polymorphism	-
P11362	FGFR1_HUMAN	470	R	L	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	300	I	T	Disease	Trigonocephaly 1 (TRIGNO1) [MIM:190440]
P11362	FGFR1_HUMAN	607	V	M	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	250	R	Q	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	722	P	S	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	725	C	Y	Disease	Hartsfield syndrome (HRTFDS) [MIM:615465]
P11362	FGFR1_HUMAN	546	N	K	Disease	Encephalocraniocutaneous lipomatosis (ECCL) [MIM:613001]
P11362	FGFR1_HUMAN	374	Y	C	Disease	Osteoglophonic dysplasia (OGD) [MIM:166250]
P11362	FGFR1_HUMAN	165	L	S	Disease	Hartsfield syndrome (HRTFDS) [MIM:615465]
P11362	FGFR1_HUMAN	520	A	T	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	342	L	S	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	768	D	Y	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	822	R	C	Polymorphism	-
P11362	FGFR1_HUMAN	213	W	G	Polymorphism	-
P11362	FGFR1_HUMAN	78	R	C	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	772	P	S	Polymorphism	-
P11362	FGFR1_HUMAN	252	P	R	Disease	Jackson-Weiss syndrome (JWS) [MIM:123150]
P11362	FGFR1_HUMAN	339	Y	C	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	670	E	K	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	330	N	I	Disease	Osteoglophonic dysplasia (OGD) [MIM:166250]
P11362	FGFR1_HUMAN	685	S	F	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	348	G	R	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	48	G	S	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	692	E	G	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	724	N	K	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	102	V	I	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	538	I	V	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	274	E	G	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	178	C	S	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	769	L	V	Polymorphism	-
P11362	FGFR1_HUMAN	117	N	S	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	818	G	R	Polymorphism	-
P11362	FGFR1_HUMAN	252	P	T	Unclassified	A lung bronchoalveolar carcinoma sample
P11362	FGFR1_HUMAN	483	P	T	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	722	P	H	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	664	V	L	Unclassified	A lung large cell carcinoma sample
P11362	FGFR1_HUMAN	343	A	V	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	795	V	I	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	224	D	H	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	381	C	R	Disease	Osteoglophonic dysplasia (OGD) [MIM:166250]
P11362	FGFR1_HUMAN	101	C	F	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	125	S	L	Unclassified	A breast infiltrating ductal carcinoma sample
P11362	FGFR1_HUMAN	622	R	G	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	283	P	R	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	129	D	A	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	745	P	S	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	622	R	Q	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	687	G	R	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11362	FGFR1_HUMAN	693	I	F	Disease	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]
P11387	TOP1_HUMAN	370	M	T	Unclassified	CPT-resistant leukemia
P11387	TOP1_HUMAN	214	G	S	Polymorphism	-
P11387	TOP1_HUMAN	533	D	G	Unclassified	CPT-resistant leukemia
P11387	TOP1_HUMAN	722	N	S	Unclassified	CPT-resistant leukemia
P11387	TOP1_HUMAN	326	K	R	Unclassified	Breast cancer
P11387	TOP1_HUMAN	729	T	A	Unclassified	CPT-resistant lung cancer
P11388	TOP2A_HUMAN	1515	A	S	Polymorphism	-
P11388	TOP2A_HUMAN	450	R	Q	Polymorphism	-
P11388	TOP2A_HUMAN	1324	T	K	Polymorphism	-
P11388	TOP2A_HUMAN	487	R	K	Polymorphism	-
P11388	TOP2A_HUMAN	1386	G	D	Polymorphism	-
P11413	G6PD_HUMAN	182	R	W	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	188	S	F	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	323	L	P	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	353	P	S	Polymorphism	-
P11413	G6PD_HUMAN	198	R	H	Unclassified	-
P11413	G6PD_HUMAN	454	R	C	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	279	T	S	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	166	R	H	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	285	R	H	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	216	F	L	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	416	E	K	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	385	C	R	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	181	D	V	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	212	M	V	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	198	R	P	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	396	P	L	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	335	A	T	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	278	S	F	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	81	R	C	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	274	E	K	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	176	D	G	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	387	R	H	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	291	V	M	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	227	R	L	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	342	L	F	Polymorphism	-
P11413	G6PD_HUMAN	198	R	C	Polymorphism	-
P11413	G6PD_HUMAN	386	K	E	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	126	N	D	Polymorphism	-
P11413	G6PD_HUMAN	81	R	H	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	363	N	K	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	68	V	M	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	439	R	P	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	321	G	V	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	106	S	C	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	410	G	D	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	70	Y	H	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	58	D	N	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	398	E	K	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	488	G	V	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	257	R	G	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	227	R	Q	Polymorphism	-
P11413	G6PD_HUMAN	48	I	T	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	213	V	L	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	463	R	H	Polymorphism	-
P11413	G6PD_HUMAN	459	R	L	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	131	G	V	Polymorphism	-
P11413	G6PD_HUMAN	12	V	L	Unclassified	-
P11413	G6PD_HUMAN	282	D	H	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	317	E	K	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	165	N	D	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	75	L	P	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	454	R	H	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	449	Q	H	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	44	A	G	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	163	G	D	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	447	G	R	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	32	H	R	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	128	L	P	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	322	Y	H	Polymorphism	-
P11413	G6PD_HUMAN	440	L	F	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	163	G	S	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	387	R	C	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	393	R	H	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	394	V	L	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	156	E	K	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	459	R	P	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	410	G	C	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11413	G6PD_HUMAN	184	S	F	Unclassified	-
P11413	G6PD_HUMAN	198	R	S	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
P11464	PSG1_HUMAN	197	E	K	Polymorphism	-
P11464	PSG1_HUMAN	198	T	N	Polymorphism	-
P11464	PSG1_HUMAN	125	I	V	Polymorphism	-
P11464	PSG1_HUMAN	47	E	K	Polymorphism	-
P11464	PSG1_HUMAN	87	E	Q	Polymorphism	-
P11464	PSG1_HUMAN	63	T	A	Polymorphism	-
P11464	PSG1_HUMAN	41	E	Q	Polymorphism	-
P11464	PSG1_HUMAN	73	R	K	Polymorphism	-
P11464	PSG1_HUMAN	101	A	V	Polymorphism	-
P11464	PSG1_HUMAN	134	V	E	Polymorphism	-
P11464	PSG1_HUMAN	43	T	P	Polymorphism	-
P11465	PSG2_HUMAN	20	V	L	Polymorphism	-
P11465	PSG2_HUMAN	179	Q	L	Polymorphism	-
P11465	PSG2_HUMAN	335	T	R	Polymorphism	-
P11465	PSG2_HUMAN	176	T	A	Polymorphism	-
P11473	VDR_HUMAN	50	R	Q	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	47	F	I	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	45	K	E	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	35	H	Q	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	80	R	Q	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	73	R	Q	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	46	G	D	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	33	G	D	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	391	R	C	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	362	T	I	Polymorphism	-
P11473	VDR_HUMAN	314	I	S	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	230	L	V	Polymorphism	-
P11473	VDR_HUMAN	274	R	L	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	305	H	Q	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	360	S	P	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11473	VDR_HUMAN	346	V	M	Disease	Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]
P11487	FGF3_HUMAN	6	L	P	Disease	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]
P11487	FGF3_HUMAN	156	S	P	Disease	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]
P11488	GNAT1_HUMAN	200	Q	E	Disease	Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) [MIM:610444]
P11488	GNAT1_HUMAN	38	G	D	Disease	Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) [MIM:610444]
P11488	GNAT1_HUMAN	129	D	G	Disease	Night blindness, congenital stationary, 1G (CSNB1G) [MIM:616389]
P11498	PYC_HUMAN	583	R	L	Disease	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
P11498	PYC_HUMAN	610	A	T	Disease	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
P11498	PYC_HUMAN	156	R	Q	Disease	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
P11498	PYC_HUMAN	631	R	Q	Disease	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
P11498	PYC_HUMAN	76	H	L	Polymorphism	-
P11498	PYC_HUMAN	743	M	I	Disease	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
P11498	PYC_HUMAN	451	R	C	Disease	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
P11498	PYC_HUMAN	270	R	W	Disease	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
P11498	PYC_HUMAN	145	V	A	Disease	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
P11498	PYC_HUMAN	304	Y	C	Disease	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
P11509	CP2A6_HUMAN	294	T	S	Polymorphism	-
P11509	CP2A6_HUMAN	224	S	P	Polymorphism	-
P11509	CP2A6_HUMAN	392	F	Y	Polymorphism	-
P11509	CP2A6_HUMAN	476	K	R	Polymorphism	-
P11509	CP2A6_HUMAN	128	R	L	Polymorphism	-
P11509	CP2A6_HUMAN	160	L	H	Polymorphism	-
P11509	CP2A6_HUMAN	5	G	R	Polymorphism	-
P11509	CP2A6_HUMAN	203	R	S	Polymorphism	-
P11509	CP2A6_HUMAN	110	V	L	Polymorphism	-
P11509	CP2A6_HUMAN	419	E	D	Polymorphism	-
P11509	CP2A6_HUMAN	203	R	C	Polymorphism	-
P11509	CP2A6_HUMAN	479	G	V	Polymorphism	-
P11509	CP2A6_HUMAN	418	N	D	Polymorphism	-
P11509	CP2A6_HUMAN	194	K	E	Polymorphism	-
P11509	CP2A6_HUMAN	131	S	A	Polymorphism	-
P11509	CP2A6_HUMAN	292	V	M	Polymorphism	-
P11509	CP2A6_HUMAN	485	R	L	Polymorphism	-
P11509	CP2A6_HUMAN	29	S	N	Polymorphism	-
P11509	CP2A6_HUMAN	118	F	L	Polymorphism	-
P11509	CP2A6_HUMAN	438	N	Y	Polymorphism	-
P11509	CP2A6_HUMAN	471	I	T	Polymorphism	-
P11509	CP2A6_HUMAN	365	V	M	Polymorphism	-
P11509	CP2A6_HUMAN	128	R	Q	Polymorphism	-
P11511	CP19A_HUMAN	435	R	C	Disease	Aromatase deficiency (AROD) [MIM:613546]
P11511	CP19A_HUMAN	437	C	Y	Disease	Aromatase deficiency (AROD) [MIM:613546]
P11511	CP19A_HUMAN	314	S	P	Unclassified	-
P11511	CP19A_HUMAN	264	R	C	Polymorphism	-
P11511	CP19A_HUMAN	365	R	Q	Disease	Aromatase deficiency (AROD) [MIM:613546]
P11511	CP19A_HUMAN	375	R	C	Disease	Aromatase deficiency (AROD) [MIM:613546]
P11511	CP19A_HUMAN	192	R	H	Disease	Aromatase deficiency (AROD) [MIM:613546]
P11511	CP19A_HUMAN	39	W	R	Polymorphism	-
P11511	CP19A_HUMAN	375	R	L	Polymorphism	-
P11511	CP19A_HUMAN	201	T	M	Polymorphism	-
P11511	CP19A_HUMAN	264	R	H	Polymorphism	-
P11532	DMD_HUMAN	54	L	R	Disease	Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532	DMD_HUMAN	573	A	V	Polymorphism	-
P11532	DMD_HUMAN	1844	R	S	Polymorphism	-
P11532	DMD_HUMAN	2921	H	R	Disease	Becker muscular dystrophy (BMD) [MIM:300376]
P11532	DMD_HUMAN	1197	V	F	Polymorphism	-
P11532	DMD_HUMAN	2937	Q	R	Polymorphism	-
P11532	DMD_HUMAN	18	K	N	Disease	Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]
P11532	DMD_HUMAN	2191	R	W	Polymorphism	-
P11532	DMD_HUMAN	1388	F	V	Polymorphism	-
P11532	DMD_HUMAN	3313	C	F	Disease	Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532	DMD_HUMAN	715	T	S	Polymorphism	-
P11532	DMD_HUMAN	1245	T	I	Polymorphism	-
P11532	DMD_HUMAN	1377	K	N	Polymorphism	-
P11532	DMD_HUMAN	118	W	R	Unclassified	-
P11532	DMD_HUMAN	773	K	E	Disease	Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532	DMD_HUMAN	3335	D	H	Disease	Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532	DMD_HUMAN	784	A	G	Polymorphism	-
P11532	DMD_HUMAN	2912	N	D	Polymorphism	-
P11532	DMD_HUMAN	1278	A	P	Polymorphism	-
P11532	DMD_HUMAN	168	A	D	Disease	Becker muscular dystrophy (BMD) [MIM:300376]
P11532	DMD_HUMAN	165	D	V	Unclassified	-
P11532	DMD_HUMAN	623	L	I	Polymorphism	-
P11532	DMD_HUMAN	882	D	G	Polymorphism	-
P11532	DMD_HUMAN	231	Y	N	Disease	Becker muscular dystrophy (BMD) [MIM:300376]
P11532	DMD_HUMAN	1219	E	Q	Unclassified	A breast cancer sample
P11532	DMD_HUMAN	2299	N	T	Polymorphism	-
P11532	DMD_HUMAN	3421	A	V	Disease	Becker muscular dystrophy (BMD) [MIM:300376]
P11532	DMD_HUMAN	365	Q	H	Polymorphism	-
P11532	DMD_HUMAN	666	S	L	Polymorphism	-
P11532	DMD_HUMAN	1136	T	S	Polymorphism	-
P11532	DMD_HUMAN	171	A	P	Disease	Becker muscular dystrophy (BMD) [MIM:300376]
P11532	DMD_HUMAN	2366	K	Q	Polymorphism	-
P11532	DMD_HUMAN	133	Q	P	Polymorphism	-
P11532	DMD_HUMAN	334	L	F	Unclassified	A colorectal cancer sample
P11532	DMD_HUMAN	409	T	S	Polymorphism	-
P11532	DMD_HUMAN	1470	R	H	Unclassified	A breast cancer sample
P11532	DMD_HUMAN	2164	A	V	Unclassified	A colorectal cancer sample
P11532	DMD_HUMAN	2108	R	C	Polymorphism	-
P11532	DMD_HUMAN	1745	R	H	Polymorphism	-
P11532	DMD_HUMAN	2910	E	V	Polymorphism	-
P11532	DMD_HUMAN	1469	Q	L	Polymorphism	-
P11532	DMD_HUMAN	1672	N	K	Polymorphism	-
P11532	DMD_HUMAN	279	T	A	Disease	Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]
P11532	DMD_HUMAN	3340	C	Y	Disease	Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532	DMD_HUMAN	2155	R	W	Polymorphism	-
P11532	DMD_HUMAN	645	D	G	Disease	Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532	DMD_HUMAN	3228	F	L	Disease	Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]
P11586	C1TC_HUMAN	162	P	L	Polymorphism	-
P11586	C1TC_HUMAN	269	T	I	Disease	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780]
P11586	C1TC_HUMAN	49	S	F	Disease	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780]
P11586	C1TC_HUMAN	761	T	M	Polymorphism	-
P11586	C1TC_HUMAN	769	L	F	Polymorphism	-
P11586	C1TC_HUMAN	653	R	Q	Disease	Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]
P11586	C1TC_HUMAN	173	R	C	Disease	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780]
P11586	C1TC_HUMAN	51	L	P	Disease	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780]
P11586	C1TC_HUMAN	134	R	K	Polymorphism	-
P11586	C1TC_HUMAN	293	R	H	Disease	Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]
P11597	CETP_HUMAN	385	V	M	Polymorphism	-
P11597	CETP_HUMAN	390	A	P	Polymorphism	-
P11597	CETP_HUMAN	168	L	P	Disease	Hyperalphalipoproteinemia 1 (HALP1) [MIM:143470]
P11597	CETP_HUMAN	331	G	S	Polymorphism	-
P11597	CETP_HUMAN	422	V	I	Polymorphism	-
P11597	CETP_HUMAN	154	R	W	Polymorphism	-
P11597	CETP_HUMAN	15	A	G	Polymorphism	-
P11597	CETP_HUMAN	299	R	C	Disease	Hyperalphalipoproteinemia 1 (HALP1) [MIM:143470]
P11597	CETP_HUMAN	486	V	M	Polymorphism	-
P11597	CETP_HUMAN	455	V	M	Polymorphism	-
P11597	CETP_HUMAN	468	R	Q	Polymorphism	-
P11597	CETP_HUMAN	459	D	G	Disease	Hyperalphalipoproteinemia 1 (HALP1) [MIM:143470]
P11678	PERE_HUMAN	40	I	M	Polymorphism	-
P11678	PERE_HUMAN	35	V	I	Polymorphism	-
P11678	PERE_HUMAN	292	P	L	Polymorphism	-
P11678	PERE_HUMAN	326	R	H	Polymorphism	-
P11678	PERE_HUMAN	458	V	M	Polymorphism	-
P11678	PERE_HUMAN	572	N	Y	Polymorphism	-
P11678	PERE_HUMAN	276	K	R	Polymorphism	-
P11678	PERE_HUMAN	122	Q	H	Polymorphism	-
P11678	PERE_HUMAN	286	R	H	Disease	Eosinophil peroxidase deficiency (EPXD) [MIM:261500]
P11678	PERE_HUMAN	441	K	T	Polymorphism	-
P11678	PERE_HUMAN	326	R	P	Polymorphism	-
P11678	PERE_HUMAN	364	R	H	Polymorphism	-
P11678	PERE_HUMAN	326	R	L	Polymorphism	-
P11678	PERE_HUMAN	496	H	Q	Polymorphism	-
P11678	PERE_HUMAN	358	P	L	Polymorphism	-
P11678	PERE_HUMAN	249	A	E	Polymorphism	-
P11684	UTER_HUMAN	68	T	A	Polymorphism	-
P11684	UTER_HUMAN	56	R	G	Polymorphism	-
P11686	PSPC_HUMAN	167	R	Q	Disease	Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]
P11686	PSPC_HUMAN	188	L	Q	Disease	Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]
P11686	PSPC_HUMAN	66	E	K	Disease	Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]
P11686	PSPC_HUMAN	186	N	S	Polymorphism	-
P11686	PSPC_HUMAN	116	A	D	Disease	Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]
P11686	PSPC_HUMAN	73	I	T	Disease	Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]
P11686	PSPC_HUMAN	138	N	T	Polymorphism	-
P11712	CP2C9_HUMAN	417	G	D	Polymorphism	-
P11712	CP2C9_HUMAN	204	N	H	Polymorphism	-
P11712	CP2C9_HUMAN	125	R	H	Polymorphism	-
P11712	CP2C9_HUMAN	360	D	E	Polymorphism	-
P11712	CP2C9_HUMAN	359	I	T	Polymorphism	-
P11712	CP2C9_HUMAN	150	R	H	Polymorphism	-
P11712	CP2C9_HUMAN	251	H	R	Polymorphism	-
P11712	CP2C9_HUMAN	144	R	C	Polymorphism	-
P11712	CP2C9_HUMAN	359	I	L	Polymorphism	-
P11712	CP2C9_HUMAN	489	P	S	Polymorphism	-
P11712	CP2C9_HUMAN	272	E	G	Polymorphism	-
P11712	CP2C9_HUMAN	19	L	I	Polymorphism	-
P11712	CP2C9_HUMAN	125	R	L	Polymorphism	-
P11712	CP2C9_HUMAN	335	R	W	Polymorphism	-
P11712	CP2C9_HUMAN	358	Y	C	Polymorphism	-
P11712	CP2C9_HUMAN	434	I	F	Polymorphism	-
P11712	CP2C9_HUMAN	413	L	P	Polymorphism	-
P11717	MPRI_HUMAN	529	R	Q	Polymorphism	-
P11717	MPRI_HUMAN	724	A	T	Polymorphism	-
P11717	MPRI_HUMAN	252	L	V	Polymorphism	-
P11717	MPRI_HUMAN	231	G	D	Polymorphism	-
P11717	MPRI_HUMAN	2020	N	S	Polymorphism	-
P11717	MPRI_HUMAN	856	G	S	Polymorphism	-
P11717	MPRI_HUMAN	604	G	S	Polymorphism	-
P11717	MPRI_HUMAN	1696	Q	R	Polymorphism	-
P11717	MPRI_HUMAN	1335	R	H	Polymorphism	-
P11717	MPRI_HUMAN	203	P	L	Polymorphism	-
P11717	MPRI_HUMAN	1395	T	S	Polymorphism	-
P11717	MPRI_HUMAN	273	D	G	Polymorphism	-
P11717	MPRI_HUMAN	2459	A	V	Polymorphism	-
P11717	MPRI_HUMAN	1124	V	I	Polymorphism	-
P11717	MPRI_HUMAN	91	R	H	Polymorphism	-
P11717	MPRI_HUMAN	1107	T	M	Polymorphism	-
P11717	MPRI_HUMAN	1908	I	M	Polymorphism	-
P11717	MPRI_HUMAN	1184	T	S	Polymorphism	-
P11717	MPRI_HUMAN	817	L	V	Polymorphism	-
P11717	MPRI_HUMAN	1254	E	A	Polymorphism	-
P11717	MPRI_HUMAN	1832	R	H	Polymorphism	-
P11717	MPRI_HUMAN	1619	R	G	Polymorphism	-
P11717	MPRI_HUMAN	1860	G	D	Polymorphism	-
P11717	MPRI_HUMAN	1315	G	E	Polymorphism	-
P11717	MPRI_HUMAN	512	K	Q	Polymorphism	-
P11766	ADHX_HUMAN	309	V	I	Polymorphism	-
P11766	ADHX_HUMAN	353	D	E	Polymorphism	-
P11766	ADHX_HUMAN	163	L	S	Polymorphism	-
P11801	KPSH1_HUMAN	301	N	S	Polymorphism	-
P11802	CDK4_HUMAN	82	R	Q	Polymorphism	-
P11802	CDK4_HUMAN	41	N	S	Disease	Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048]
P11802	CDK4_HUMAN	24	R	C	Disease	Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048]
P11802	CDK4_HUMAN	122	R	H	Polymorphism	-
P11802	CDK4_HUMAN	24	R	H	Disease	Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048]
P11844	CRGA_HUMAN	148	P	L	Polymorphism	-
P12004	PCNA_HUMAN	228	S	I	Disease	Ataxia-telangiectasia-like disorder 2 (ATLD2) [MIM:615919]
P12018	VPREB_HUMAN	132	E	K	Polymorphism	-
P12018	VPREB_HUMAN	122	S	L	Polymorphism	-
P12018	VPREB_HUMAN	76	D	N	Polymorphism	-
P12034	FGF5_HUMAN	54	M	V	Polymorphism	-
P12034	FGF5_HUMAN	174	Y	H	Disease	Trichomegaly (TCMGLY) [MIM:190330]
P12035	K2C3_HUMAN	44	G	A	Polymorphism	-
P12035	K2C3_HUMAN	375	R	G	Polymorphism	-
P12035	K2C3_HUMAN	503	R	P	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
P12035	K2C3_HUMAN	509	E	K	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
P12036	NFH_HUMAN	615	P	L	Polymorphism	-
P12036	NFH_HUMAN	575	P	S	Polymorphism	-
P12036	NFH_HUMAN	811	E	A	Polymorphism	-
P12081	SYHC_HUMAN	399	A	V	Polymorphism	-
P12081	SYHC_HUMAN	238	V	A	Unclassified	Charcot-Marie-Tooth disease 2W (CMT2W) [MIM:616625]
P12081	SYHC_HUMAN	205	G	D	Polymorphism	-
P12081	SYHC_HUMAN	364	D	Y	Disease	Charcot-Marie-Tooth disease 2W (CMT2W) [MIM:616625]
P12081	SYHC_HUMAN	376	K	R	Polymorphism	-
P12081	SYHC_HUMAN	132	T	I	Disease	Charcot-Marie-Tooth disease 2W (CMT2W) [MIM:616625]
P12081	SYHC_HUMAN	175	D	E	Disease	Charcot-Marie-Tooth disease 2W (CMT2W) [MIM:616625]
P12081	SYHC_HUMAN	454	Y	S	Disease	Usher syndrome 3B (USH3B) [MIM:614504]
P12081	SYHC_HUMAN	5	A	E	Polymorphism	-
P12081	SYHC_HUMAN	134	P	H	Disease	Charcot-Marie-Tooth disease 2W (CMT2W) [MIM:616625]
P12081	SYHC_HUMAN	137	R	Q	Disease	Charcot-Marie-Tooth disease 2W (CMT2W) [MIM:616625]
P12081	SYHC_HUMAN	505	P	S	Unclassified	Charcot-Marie-Tooth disease 2W (CMT2W) [MIM:616625]
P12104	FABPI_HUMAN	55	A	T	Polymorphism	-
P12107	COBA1_HUMAN	1042	G	R	Disease	Fibrochondrogenesis 1 (FBCG1) [MIM:228520]
P12107	COBA1_HUMAN	1027	G	R	Disease	Stickler syndrome 2 (STL2) [MIM:604841]
P12107	COBA1_HUMAN	1535	S	P	Polymorphism	-
P12107	COBA1_HUMAN	559	G	S	Polymorphism	-
P12107	COBA1_HUMAN	796	G	R	Disease	Fibrochondrogenesis 1 (FBCG1) [MIM:228520]
P12107	COBA1_HUMAN	1326	A	V	Unclassified	A breast cancer sample
P12107	COBA1_HUMAN	1513	G	D	Disease	Stickler syndrome 2 (STL2) [MIM:604841]
P12107	COBA1_HUMAN	1516	G	V	Disease	Stickler syndrome 2 (STL2) [MIM:604841]
P12107	COBA1_HUMAN	1323	P	L	Polymorphism	-
P12107	COBA1_HUMAN	625	G	V	Disease	Stickler syndrome 2 (STL2) [MIM:604841]
P12107	COBA1_HUMAN	8	W	G	Polymorphism	-
P12107	COBA1_HUMAN	565	G	V	Disease	Stickler syndrome 2 (STL2) [MIM:604841]
P12107	COBA1_HUMAN	1805	L	F	Polymorphism	-
P12107	COBA1_HUMAN	1328	Q	L	Unclassified	A breast cancer sample
P12107	COBA1_HUMAN	676	G	R	Disease	Stickler syndrome 2 (STL2) [MIM:604841]
P12107	COBA1_HUMAN	46	D	E	Polymorphism	-
P12107	COBA1_HUMAN	1328	Q	K	Unclassified	A breast cancer sample
P12109	CO6A1_HUMAN	571	K	T	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12109	CO6A1_HUMAN	850	R	H	Polymorphism	-
P12109	CO6A1_HUMAN	121	K	R	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12109	CO6A1_HUMAN	284	G	R	Disease	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12109	CO6A1_HUMAN	274	P	L	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12109	CO6A1_HUMAN	275	G	R	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12109	CO6A1_HUMAN	341	G	V	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12109	CO6A1_HUMAN	290	G	R	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12109	CO6A1_HUMAN	272	G	D	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12109	CO6A1_HUMAN	890	S	L	Polymorphism	-
P12109	CO6A1_HUMAN	439	R	Q	Polymorphism	-
P12109	CO6A1_HUMAN	305	G	V	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12109	CO6A1_HUMAN	332	G	S	Polymorphism	-
P12109	CO6A1_HUMAN	281	G	R	Disease	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12109	CO6A1_HUMAN	43	D	A	Disease	-
P12109	CO6A1_HUMAN	290	G	R	Disease	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12109	CO6A1_HUMAN	341	G	D	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12109	CO6A1_HUMAN	881	T	M	Polymorphism	-
P12109	CO6A1_HUMAN	116	S	N	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12110	CO6A2_HUMAN	227	D	N	Polymorphism	-
P12110	CO6A2_HUMAN	843	R	Q	Polymorphism	-
P12110	CO6A2_HUMAN	518	P	S	Polymorphism	-
P12110	CO6A2_HUMAN	531	G	R	Disease	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12110	CO6A2_HUMAN	489	R	Q	Polymorphism	-
P12110	CO6A2_HUMAN	283	G	R	Disease	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12110	CO6A2_HUMAN	1015	I	L	Polymorphism	-
P12110	CO6A2_HUMAN	804	V	G	Polymorphism	-
P12110	CO6A2_HUMAN	935	G	R	Polymorphism	-
P12110	CO6A2_HUMAN	106	E	K	Polymorphism	-
P12110	CO6A2_HUMAN	784	R	H	Disease	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12110	CO6A2_HUMAN	621	D	N	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12110	CO6A2_HUMAN	498	R	H	Disease	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12110	CO6A2_HUMAN	1010	F	C	Polymorphism	-
P12110	CO6A2_HUMAN	895	S	R	Polymorphism	-
P12110	CO6A2_HUMAN	700	G	S	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12110	CO6A2_HUMAN	377	R	C	Polymorphism	-
P12110	CO6A2_HUMAN	777	C	R	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12110	CO6A2_HUMAN	680	R	H	Polymorphism	-
P12110	CO6A2_HUMAN	399	S	N	Polymorphism	-
P12110	CO6A2_HUMAN	446	D	N	Polymorphism	-
P12110	CO6A2_HUMAN	853	R	Q	Polymorphism	-
P12110	CO6A2_HUMAN	271	G	S	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12110	CO6A2_HUMAN	724	R	C	Polymorphism	-
P12110	CO6A2_HUMAN	837	L	P	Disease	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12110	CO6A2_HUMAN	932	P	L	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12110	CO6A2_HUMAN	876	R	S	Disease	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12110	CO6A2_HUMAN	728	V	M	Polymorphism	-
P12111	CO6A3_HUMAN	3012	A	P	Polymorphism	-
P12111	CO6A3_HUMAN	2805	N	T	Polymorphism	-
P12111	CO6A3_HUMAN	1014	K	E	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12111	CO6A3_HUMAN	491	D	H	Polymorphism	-
P12111	CO6A3_HUMAN	1674	D	N	Disease	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12111	CO6A3_HUMAN	1088	K	Q	Polymorphism	-
P12111	CO6A3_HUMAN	886	V	E	Polymorphism	-
P12111	CO6A3_HUMAN	3069	T	I	Polymorphism	-
P12111	CO6A3_HUMAN	677	R	H	Unclassified	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12111	CO6A3_HUMAN	830	A	S	Polymorphism	-
P12111	CO6A3_HUMAN	492	T	S	Polymorphism	-
P12111	CO6A3_HUMAN	1064	R	Q	Unclassified	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12111	CO6A3_HUMAN	659	R	H	Polymorphism	-
P12111	CO6A3_HUMAN	2927	M	T	Polymorphism	-
P12111	CO6A3_HUMAN	2080	G	D	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12111	CO6A3_HUMAN	538	T	M	Polymorphism	-
P12111	CO6A3_HUMAN	1726	L	R	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12111	CO6A3_HUMAN	807	A	T	Polymorphism	-
P12111	CO6A3_HUMAN	1576	R	Q	Polymorphism	-
P12111	CO6A3_HUMAN	1386	E	K	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12111	CO6A3_HUMAN	1985	V	M	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12111	CO6A3_HUMAN	2831	D	H	Polymorphism	-
P12111	CO6A3_HUMAN	2988	M	V	Polymorphism	-
P12111	CO6A3_HUMAN	2453	E	K	Polymorphism	-
P12111	CO6A3_HUMAN	2554	A	T	Disease	Dystonia 27 (DYT27) [MIM:616411]
P12111	CO6A3_HUMAN	2501	R	H	Disease	Dystonia 27 (DYT27) [MIM:616411]
P12111	CO6A3_HUMAN	3082	P	R	Disease	Dystonia 27 (DYT27) [MIM:616411]
P12111	CO6A3_HUMAN	2218	P	L	Polymorphism	-
P12111	CO6A3_HUMAN	1687	P	S	Polymorphism	-
P12111	CO6A3_HUMAN	2431	D	V	Polymorphism	-
P12111	CO6A3_HUMAN	2941	A	V	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12111	CO6A3_HUMAN	1679	G	E	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12111	CO6A3_HUMAN	1395	R	Q	Disease	Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]
P12111	CO6A3_HUMAN	1632	R	Q	Polymorphism	-
P12111	CO6A3_HUMAN	3043	R	H	Disease	Dystonia 27 (DYT27) [MIM:616411]
P12111	CO6A3_HUMAN	1467	N	D	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12111	CO6A3_HUMAN	411	L	V	Polymorphism	-
P12111	CO6A3_HUMAN	2056	G	R	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12111	CO6A3_HUMAN	2047	G	D	Disease	Bethlem myopathy 1 (BTHLM1) [MIM:158810]
P12235	ADT1_HUMAN	80	R	H	Disease	Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type (MTDPS12A) [MIM:617184]
P12235	ADT1_HUMAN	90	A	D	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]
P12235	ADT1_HUMAN	114	A	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]
P12235	ADT1_HUMAN	236	R	P	Disease	Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type (MTDPS12B) [MIM:615418]
P12235	ADT1_HUMAN	123	A	D	Disease	Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type (MTDPS12B) [MIM:615418]
P12235	ADT1_HUMAN	104	D	G	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]
P12235	ADT1_HUMAN	289	V	M	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]
P12235	ADT1_HUMAN	98	L	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]
P12235	ADT1_HUMAN	235	R	G	Disease	Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type (MTDPS12A) [MIM:617184]
P12236	ADT3_HUMAN	242	S	F	Polymorphism	-
P12259	FA5_HUMAN	1285	L	I	Polymorphism	-
P12259	FA5_HUMAN	817	N	T	Polymorphism	-
P12259	FA5_HUMAN	1146	H	Q	Polymorphism	-
P12259	FA5_HUMAN	925	K	E	Polymorphism	-
P12259	FA5_HUMAN	809	P	S	Polymorphism	-
P12259	FA5_HUMAN	1327	H	R	Polymorphism	-
P12259	FA5_HUMAN	775	S	A	Unclassified	A colorectal cancer sample
P12259	FA5_HUMAN	107	D	H	Polymorphism	-
P12259	FA5_HUMAN	534	R	Q	Disease	Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]
P12259	FA5_HUMAN	1730	Y	C	Disease	Factor V deficiency (FA5D) [MIM:227400]
P12259	FA5_HUMAN	865	H	R	Polymorphism	-
P12259	FA5_HUMAN	1685	T	S	Polymorphism	-
P12259	FA5_HUMAN	2222	D	G	Polymorphism	-
P12259	FA5_HUMAN	15	G	S	Polymorphism	-
P12259	FA5_HUMAN	334	R	T	Disease	Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]
P12259	FA5_HUMAN	413	M	T	Polymorphism	-
P12259	FA5_HUMAN	387	I	T	Disease	Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]
P12259	FA5_HUMAN	858	K	R	Polymorphism	-
P12259	FA5_HUMAN	1530	E	A	Polymorphism	-
P12259	FA5_HUMAN	1749	L	V	Polymorphism	-
P12259	FA5_HUMAN	334	R	G	Polymorphism	-
P12259	FA5_HUMAN	2102	R	C	Disease	Factor V deficiency (FA5D) [MIM:227400]
P12259	FA5_HUMAN	1764	M	V	Polymorphism	-
P12259	FA5_HUMAN	2185	K	R	Polymorphism	-
P12259	FA5_HUMAN	2148	M	T	Polymorphism	-
P12259	FA5_HUMAN	980	R	L	Polymorphism	-
P12259	FA5_HUMAN	915	T	S	Polymorphism	-
P12259	FA5_HUMAN	969	N	S	Polymorphism	-
P12259	FA5_HUMAN	1404	P	S	Polymorphism	-
P12259	FA5_HUMAN	1397	L	F	Polymorphism	-
P12259	FA5_HUMAN	1820	M	I	Polymorphism	-
P12259	FA5_HUMAN	613	C	R	Disease	Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]
P12259	FA5_HUMAN	2102	R	H	Disease	Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]
P12259	FA5_HUMAN	513	R	K	Polymorphism	-
P12259	FA5_HUMAN	781	S	R	Polymorphism	-
P12268	IMDH2_HUMAN	263	L	F	Polymorphism	-
P12270	TPR_HUMAN	1707	T	A	Polymorphism	-
P12270	TPR_HUMAN	1428	V	G	Polymorphism	-
P12270	TPR_HUMAN	960	S	N	Polymorphism	-
P12271	RLBP1_HUMAN	151	R	Q	Disease	Retinitis punctata albescens (RPA) [MIM:136880]
P12271	RLBP1_HUMAN	234	R	W	Disease	Bothnia retinal dystrophy (BRD) [MIM:607475]
P12271	RLBP1_HUMAN	226	M	K	Disease	Retinitis punctata albescens (RPA) [MIM:136880]
P12272	PTHR_HUMAN	44	L	P	Disease	Brachydactyly E2 (BDE2) [MIM:613382]
P12272	PTHR_HUMAN	60	L	P	Disease	Brachydactyly E2 (BDE2) [MIM:613382]
P12272	PTHR_HUMAN	169	S	T	Unclassified	A breast cancer sample
P12277	KCRB_HUMAN	177	K	R	Polymorphism	-
P12277	KCRB_HUMAN	309	S	L	Polymorphism	-
P12277	KCRB_HUMAN	360	L	F	Polymorphism	-
P12314	FCGR1_HUMAN	105	L	P	Polymorphism	-
P12318	FCG2A_HUMAN	140	M	V	Polymorphism	-
P12318	FCG2A_HUMAN	218	I	V	Polymorphism	-
P12318	FCG2A_HUMAN	63	Q	R	Polymorphism	-
P12318	FCG2A_HUMAN	167	H	R	Polymorphism	-
P12319	FCERA_HUMAN	84	K	R	Polymorphism	-
P12319	FCERA_HUMAN	101	S	N	Polymorphism	-
P12429	ANXA3_HUMAN	291	F	S	Polymorphism	-
P12429	ANXA3_HUMAN	19	S	N	Polymorphism	-
P12429	ANXA3_HUMAN	219	I	N	Polymorphism	-
P12429	ANXA3_HUMAN	251	P	L	Polymorphism	-
P12524	MYCL_HUMAN	362	T	S	Polymorphism	-
P12544	GRAA_HUMAN	121	M	T	Polymorphism	-
P12643	BMP2_HUMAN	77	P	S	Polymorphism	-
P12643	BMP2_HUMAN	161	L	S	Polymorphism	-
P12643	BMP2_HUMAN	106	A	T	Polymorphism	-
P12643	BMP2_HUMAN	190	R	S	Polymorphism	-
P12643	BMP2_HUMAN	387	D	G	Polymorphism	-
P12643	BMP2_HUMAN	37	S	A	Polymorphism	-
P12644	BMP4_HUMAN	346	A	V	Disease	Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625]
P12644	BMP4_HUMAN	225	T	A	Polymorphism	-
P12644	BMP4_HUMAN	287	R	H	Disease	Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625]
P12644	BMP4_HUMAN	116	T	S	Polymorphism	-
P12644	BMP4_HUMAN	152	V	A	Polymorphism	-
P12644	BMP4_HUMAN	91	S	C	Disease	Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625]
P12644	BMP4_HUMAN	367	S	T	Polymorphism	-
P12644	BMP4_HUMAN	150	N	K	Polymorphism	-
P12644	BMP4_HUMAN	226	R	W	Polymorphism	-
P12644	BMP4_HUMAN	162	R	Q	Disease	Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625]
P12644	BMP4_HUMAN	168	G	A	Polymorphism	-
P12644	BMP4_HUMAN	102	T	A	Polymorphism	-
P12644	BMP4_HUMAN	93	E	G	Disease	Microphthalmia, syndromic, 6 (MCOPS6) [MIM:607932]
P12645	BMP3_HUMAN	222	T	M	Polymorphism	-
P12645	BMP3_HUMAN	205	L	F	Polymorphism	-
P12645	BMP3_HUMAN	192	R	Q	Polymorphism	-
P12645	BMP3_HUMAN	176	Q	K	Polymorphism	-
P12645	BMP3_HUMAN	176	Q	L	Polymorphism	-
P12694	ODBA_HUMAN	151	T	M	Polymorphism	-
P12694	ODBA_HUMAN	159	R	W	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694	ODBA_HUMAN	409	F	C	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694	ODBA_HUMAN	438	Y	N	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694	ODBA_HUMAN	39	P	H	Polymorphism	-
P12694	ODBA_HUMAN	190	Q	K	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694	ODBA_HUMAN	211	T	M	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694	ODBA_HUMAN	290	G	R	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694	ODBA_HUMAN	413	Y	C	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694	ODBA_HUMAN	346	R	C	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694	ODBA_HUMAN	220	A	V	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694	ODBA_HUMAN	326	I	T	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694	ODBA_HUMAN	253	A	T	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12724	ECP_HUMAN	72	R	C	Polymorphism	-
P12724	ECP_HUMAN	130	G	R	Polymorphism	-
P12724	ECP_HUMAN	124	T	R	Polymorphism	-
P12755	SKI_HUMAN	32	L	P	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	34	G	C	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	31	S	L	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	35	P	S	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	28	S	T	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	21	L	R	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	117	G	R	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	116	G	E	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	34	G	S	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	35	P	Q	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	34	G	D	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	34	G	V	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	32	L	V	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12755	SKI_HUMAN	34	G	A	Disease	Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
P12757	SKIL_HUMAN	38	A	V	Polymorphism	-
P12814	ACTN1_HUMAN	46	R	Q	Disease	Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P12814	ACTN1_HUMAN	752	R	Q	Disease	Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P12814	ACTN1_HUMAN	32	Q	K	Disease	Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P12814	ACTN1_HUMAN	197	R	W	Polymorphism	-
P12814	ACTN1_HUMAN	868	T	S	Polymorphism	-
P12814	ACTN1_HUMAN	707	N	T	Polymorphism	-
P12814	ACTN1_HUMAN	738	R	W	Disease	Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P12814	ACTN1_HUMAN	225	E	K	Disease	Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P12814	ACTN1_HUMAN	105	V	I	Disease	Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P12821	ACE_HUMAN	524	V	A	Polymorphism	-
P12821	ACE_HUMAN	592	D	G	Polymorphism	-
P12821	ACE_HUMAN	351	P	L	Polymorphism	-
P12821	ACE_HUMAN	1286	R	S	Polymorphism	-
P12821	ACE_HUMAN	354	G	R	Polymorphism	-
P12821	ACE_HUMAN	1051	F	V	Polymorphism	-
P12821	ACE_HUMAN	261	A	S	Polymorphism	-
P12821	ACE_HUMAN	916	T	M	Polymorphism	-
P12821	ACE_HUMAN	244	Y	C	Polymorphism	-
P12821	ACE_HUMAN	183	A	T	Polymorphism	-
P12821	ACE_HUMAN	1296	Q	P	Polymorphism	-
P12821	ACE_HUMAN	1187	T	M	Polymorphism	-
P12821	ACE_HUMAN	1228	P	L	Polymorphism	-
P12821	ACE_HUMAN	561	R	W	Polymorphism	-
P12821	ACE_HUMAN	379	R	Q	Polymorphism	-
P12821	ACE_HUMAN	260	R	C	Polymorphism	-
P12821	ACE_HUMAN	828	M	T	Polymorphism	-
P12821	ACE_HUMAN	295	D	N	Polymorphism	-
P12821	ACE_HUMAN	1018	I	T	Polymorphism	-
P12821	ACE_HUMAN	1279	R	Q	Polymorphism	-
P12821	ACE_HUMAN	260	R	L	Polymorphism	-
P12821	ACE_HUMAN	154	A	T	Polymorphism	-
P12829	MYL4_HUMAN	186	N	Y	Polymorphism	-
P12829	MYL4_HUMAN	11	E	K	Disease	Atrial fibrillation, familial, 18 (ATFB18) [MIM:617280]
P12830	CADH1_HUMAN	463	E	Q	Unclassified	A gastric carcinoma sample
P12830	CADH1_HUMAN	340	T	A	Polymorphism	-
P12830	CADH1_HUMAN	257	D	V	Disease	Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580]
P12830	CADH1_HUMAN	592	A	T	Unclassified	A thyroid cancer sample
P12830	CADH1_HUMAN	473	V	I	Polymorphism	-
P12830	CADH1_HUMAN	711	L	V	Polymorphism	-
P12830	CADH1_HUMAN	470	T	I	Polymorphism	-
P12830	CADH1_HUMAN	838	S	G	Unclassified	An ovarian carcinoma sample
P12830	CADH1_HUMAN	634	A	V	Polymorphism	-
P12830	CADH1_HUMAN	315	N	S	Unclassified	Lobular breast carcinoma
P12830	CADH1_HUMAN	393	I	N	Polymorphism	-
P12830	CADH1_HUMAN	254	D	Y	Disease	Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580]
P12830	CADH1_HUMAN	244	D	G	Disease	Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
P12830	CADH1_HUMAN	123	H	Y	Unclassified	A gastric cancer sample
P12830	CADH1_HUMAN	617	A	T	Polymorphism	-
P12830	CADH1_HUMAN	72	D	N	Polymorphism	-
P12830	CADH1_HUMAN	598	R	Q	Unclassified	A gastric cancer sample
P12830	CADH1_HUMAN	487	V	A	Disease	Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
P12830	CADH1_HUMAN	478	L	P	Polymorphism	-
P12830	CADH1_HUMAN	370	D	A	Unclassified	A diffuse gastric cancer sample
P12830	CADH1_HUMAN	336	E	D	Polymorphism	-
P12830	CADH1_HUMAN	777	D	N	Unclassified	A breast cancer sample
P12830	CADH1_HUMAN	832	V	M	Disease	Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
P12830	CADH1_HUMAN	193	T	P	Unclassified	A diffuse gastric cancer sample
P12830	CADH1_HUMAN	473	V	D	Unclassified	A diffuse gastric cancer sample
P12830	CADH1_HUMAN	630	L	V	Polymorphism	-
P12830	CADH1_HUMAN	880	E	K	Polymorphism	-
P12830	CADH1_HUMAN	282	M	I	Unclassified	A breast cancer sample
P12830	CADH1_HUMAN	695	C	R	Polymorphism	-
P12830	CADH1_HUMAN	270	S	A	Polymorphism	-
P12838	DEF4_HUMAN	8	A	P	Polymorphism	-
P12838	DEF4_HUMAN	8	A	V	Polymorphism	-
P12838	DEF4_HUMAN	74	R	Q	Unclassified	A colorectal cancer sample
P12872	MOTI_HUMAN	15	V	A	Polymorphism	-
P12882	MYH1_HUMAN	640	G	S	Polymorphism	-
P12882	MYH1_HUMAN	1341	R	C	Polymorphism	-
P12882	MYH1_HUMAN	1445	A	T	Unclassified	A breast cancer sample
P12882	MYH1_HUMAN	1566	Q	K	Unclassified	-
P12882	MYH1_HUMAN	1306	S	L	Unclassified	A breast cancer sample
P12882	MYH1_HUMAN	1598	V	M	Unclassified	A breast cancer sample
P12882	MYH1_HUMAN	1539	Q	H	Polymorphism	-
P12882	MYH1_HUMAN	1716	R	C	Polymorphism	-
P12883	MYH7_HUMAN	1776	S	G	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	723	R	G	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1555	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	782	S	N	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	846	E	Q	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	256	G	E	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1573	E	K	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	928	D	N	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	443	I	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	252	F	L	Disease	Left ventricular non-compaction 5 (LVNC5) [MIM:613426]
P12883	MYH7_HUMAN	584	G	S	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1454	A	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	696	N	S	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	694	R	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1491	S	C	Polymorphism	-
P12883	MYH7_HUMAN	450	K	E	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1420	R	W	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1753	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	441	T	M	Disease	Myopathy, distal, 1 (MPD1) [MIM:160500]
P12883	MYH7_HUMAN	440	V	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	411	V	I	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	712	R	L	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	466	E	Q	Polymorphism	-
P12883	MYH7_HUMAN	1793	L	P	Disease	Myopathy, myosin storage, autosomal dominant (MSMA) [MIM:608358]
P12883	MYH7_HUMAN	3	D	A	Polymorphism	-
P12883	MYH7_HUMAN	1359	R	C	Unclassified	Left ventricular non-compaction 5 (LVNC5) [MIM:613426]
P12883	MYH7_HUMAN	734	Q	E	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1426	E	K	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	858	R	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1854	T	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1327	N	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	694	R	H	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	924	E	Q	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	517	L	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	869	R	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	143	R	G	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	595	Q	R	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	671	R	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1776	S	T	Disease	Left ventricular non-compaction 5 (LVNC5) [MIM:613426]
P12883	MYH7_HUMAN	1379	A	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	497	E	D	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	232	N	S	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1019	T	N	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	1414	L	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	778	D	E	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	148	S	I	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	143	R	W	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	312	F	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	877	M	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1918	N	K	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	870	R	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1513	T	S	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1712	R	W	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	763	V	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1777	A	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	822	M	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	719	R	Q	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	143	R	Q	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	249	R	Q	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	430	A	E	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	59	V	I	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	115	Y	H	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	428	A	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	663	R	H	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1820	R	W	Disease	Myopathy, myosin storage, autosomal recessive (MSMB) [MIM:255160]
P12883	MYH7_HUMAN	1057	G	D	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	601	L	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1057	G	S	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1752	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1845	R	W	Disease	Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]
P12883	MYH7_HUMAN	763	V	G	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	450	K	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	659	M	I	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	768	G	R	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	796	L	F	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1663	A	P	Disease	Myopathy, distal, 1 (MPD1) [MIM:160500]
P12883	MYH7_HUMAN	736	I	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1475	R	C	Polymorphism	-
P12883	MYH7_HUMAN	283	Y	D	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	162	Y	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1218	E	Q	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	823	G	E	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1135	L	R	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	107	D	E	Polymorphism	-
P12883	MYH7_HUMAN	615	K	Q	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	733	G	E	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	479	N	S	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	355	A	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	663	R	S	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1519	S	C	Polymorphism	-
P12883	MYH7_HUMAN	390	L	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	404	V	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	39	V	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	188	T	N	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1692	V	M	Polymorphism	-
P12883	MYH7_HUMAN	774	E	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	869	R	H	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	698	V	A	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1356	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1901	H	L	Disease	Myopathy, myosin storage, autosomal dominant (MSMA) [MIM:608358]
P12883	MYH7_HUMAN	905	C	F	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1500	R	P	Disease	Myopathy, distal, 1 (MPD1) [MIM:160500]
P12883	MYH7_HUMAN	1706	L	P	Disease	Myopathy, distal, 1 (MPD1) [MIM:160500]
P12883	MYH7_HUMAN	351	K	E	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	412	T	N	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	453	R	S	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	187	N	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	642	S	L	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	390	L	P	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	778	D	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	728	A	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1459	K	N	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	263	I	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1459	K	N	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	483	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	204	R	H	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	383	K	N	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	425	G	R	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	26	A	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1193	R	S	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	406	V	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	822	M	L	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	190	R	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	716	G	R	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	663	R	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	207	K	Q	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1634	R	C	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	824	V	I	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	404	V	L	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	407	G	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	227	L	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	124	T	I	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1377	T	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	320	V	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	222	Q	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	921	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	894	E	G	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	858	R	H	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1124	A	S	Polymorphism	-
P12883	MYH7_HUMAN	742	A	E	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	211	P	L	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	328	E	G	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	201	I	T	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	350	Y	N	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	435	M	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	499	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1382	R	W	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	532	S	P	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	927	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	244	F	L	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	924	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1845	R	W	Disease	Myopathy, myosin storage, autosomal dominant (MSMA) [MIM:608358]
P12883	MYH7_HUMAN	743	E	D	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	741	G	R	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	196	A	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	453	R	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	515	M	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	186	V	L	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	385	A	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	906	D	G	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	243	R	H	Disease	Left ventricular non-compaction 5 (LVNC5) [MIM:613426]
P12883	MYH7_HUMAN	1297	L	V	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	882	Q	E	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	723	R	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	571	G	R	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	764	F	L	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	734	Q	P	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	403	R	W	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	602	N	S	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	869	R	G	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	243	R	H	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	500	E	A	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1929	T	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	223	A	T	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	513	F	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	953	D	H	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	930	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	787	R	H	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	349	M	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	719	R	W	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	949	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	606	V	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	146	K	N	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	615	K	N	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	263	I	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	901	A	G	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1044	V	A	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	403	R	Q	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1263	A	E	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12883	MYH7_HUMAN	852	M	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	403	R	L	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	584	G	R	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	935	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	587	D	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	931	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	515	M	R	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	908	L	V	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	576	H	R	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1883	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	736	I	M	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	797	A	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	453	R	H	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	778	D	G	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	731	P	L	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	870	R	H	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	511	I	F	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	1919	K	N	Polymorphism	-
P12883	MYH7_HUMAN	1768	E	K	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	787	R	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	501	Y	C	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	741	G	W	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	511	I	T	Disease	Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]
P12883	MYH7_HUMAN	550	A	V	Disease	Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]
P12931	SRC_HUMAN	237	A	T	Polymorphism	-
P12931	SRC_HUMAN	527	E	K	Disease	Thrombocytopenia 6 (THC6) [MIM:616937]
P12931	SRC_HUMAN	176	L	F	Polymorphism	-
P12955	PEPD_HUMAN	278	G	D	Disease	Prolidase deficiency (PD) [MIM:170100]
P12955	PEPD_HUMAN	448	G	R	Disease	Prolidase deficiency (PD) [MIM:170100]
P12955	PEPD_HUMAN	388	R	H	Polymorphism	-
P12955	PEPD_HUMAN	276	D	N	Disease	Prolidase deficiency (PD) [MIM:170100]
P12955	PEPD_HUMAN	435	L	F	Polymorphism	-
P12955	PEPD_HUMAN	184	R	Q	Disease	Prolidase deficiency (PD) [MIM:170100]
P13010	XRCC5_HUMAN	463	L	F	Polymorphism	-
P13010	XRCC5_HUMAN	508	I	V	Polymorphism	-
P13051	UNG_HUMAN	4	Q	R	Polymorphism	-
P13051	UNG_HUMAN	251	F	S	Disease	Immunodeficiency with hyper-IgM 5 (HIGM5) [MIM:608106]
P13073	COX41_HUMAN	3	A	T	Polymorphism	-
P13073	COX41_HUMAN	38	Y	F	Polymorphism	-
P13164	IFM1_HUMAN	13	P	A	Polymorphism	-
P13224	GP1BB_HUMAN	133	A	P	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P13224	GP1BB_HUMAN	113	Y	C	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P13236	CCL4_HUMAN	12	M	V	Polymorphism	-
P13236	CCL4_HUMAN	80	S	T	Polymorphism	-
P13236	CCL4_HUMAN	20	P	L	Polymorphism	-
P13349	MYF5_HUMAN	95	R	C	Disease	Ophthalmoplegia, external, with rib and vertebral anomalies (EORVA) [MIM:618155]
P13385	TDGF1_HUMAN	43	Y	D	Polymorphism	-
P13385	TDGF1_HUMAN	22	V	A	Polymorphism	-
P13385	TDGF1_HUMAN	111	R	G	Polymorphism	-
P13473	LAMP2_HUMAN	321	W	R	Disease	Danon disease (DAND) [MIM:300257]
P13473	LAMP2_HUMAN	256	P	H	Polymorphism	-
P13489	RINI_HUMAN	170	P	L	Polymorphism	-
P13497	BMP1_HUMAN	719	V	I	Polymorphism	-
P13497	BMP1_HUMAN	270	M	V	Disease	Osteogenesis imperfecta 13 (OI13) [MIM:614856]
P13497	BMP1_HUMAN	45	D	H	Unclassified	A breast cancer sample
P13497	BMP1_HUMAN	12	G	R	Disease	Osteogenesis imperfecta 13 (OI13) [MIM:614856]
P13497	BMP1_HUMAN	249	F	L	Disease	Osteogenesis imperfecta 13 (OI13) [MIM:614856]
P13498	CY24A_HUMAN	25	G	D	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	90	R	Q	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	94	H	R	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	171	E	G	Polymorphism	-
P13498	CY24A_HUMAN	156	P	Q	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	72	Y	H	Polymorphism	-
P13498	CY24A_HUMAN	90	R	W	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	125	A	T	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	118	S	R	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	25	G	V	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	24	G	R	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	174	V	A	Polymorphism	-
P13498	CY24A_HUMAN	124	A	V	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	52	L	P	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	53	E	V	Disease	Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]
P13498	CY24A_HUMAN	193	E	D	Polymorphism	-
P13501	CCL5_HUMAN	24	S	F	Polymorphism	-
P13521	SCG2_HUMAN	564	P	L	Polymorphism	-
P13521	SCG2_HUMAN	535	D	G	Polymorphism	-
P13521	SCG2_HUMAN	421	R	G	Polymorphism	-
P13521	SCG2_HUMAN	196	A	V	Polymorphism	-
P13521	SCG2_HUMAN	294	D	G	Polymorphism	-
P13521	SCG2_HUMAN	61	Y	H	Polymorphism	-
P13533	MYH6_HUMAN	795	R	Q	Disease	Cardiomyopathy, familial hypertrophic 14 (CMH14) [MIM:613251]
P13533	MYH6_HUMAN	275	I	N	Polymorphism	-
P13533	MYH6_HUMAN	1004	A	S	Disease	Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252]
P13533	MYH6_HUMAN	1593	Q	L	Polymorphism	-
P13533	MYH6_HUMAN	56	G	R	Polymorphism	-
P13533	MYH6_HUMAN	830	P	L	Disease	Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252]
P13533	MYH6_HUMAN	1737	T	S	Polymorphism	-
P13533	MYH6_HUMAN	783	L	M	Polymorphism	-
P13533	MYH6_HUMAN	820	I	N	Disease	Atrial septal defect 3 (ASD3) [MIM:614089]
P13533	MYH6_HUMAN	1065	Q	H	Disease	Cardiomyopathy, familial hypertrophic 14 (CMH14) [MIM:613251]
P13533	MYH6_HUMAN	1130	A	T	Polymorphism	-
P13533	MYH6_HUMAN	1101	V	A	Polymorphism	-
P13533	MYH6_HUMAN	1295	E	Q	Polymorphism	-
P13533	MYH6_HUMAN	1502	R	Q	Unclassified	Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252]
P13533	MYH6_HUMAN	88	E	Q	Polymorphism	-
P13533	MYH6_HUMAN	1457	E	K	Disease	Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252]
P13533	MYH6_HUMAN	721	R	W	Disease	Sick sinus syndrome 3 (SSS3) [MIM:614090]
P13535	MYH8_HUMAN	674	R	Q	Disease	Carney complex variant (CACOV) [MIM:608837]
P13535	MYH8_HUMAN	1229	M	T	Polymorphism	-
P13535	MYH8_HUMAN	1261	E	G	Polymorphism	-
P13535	MYH8_HUMAN	924	E	G	Polymorphism	-
P13535	MYH8_HUMAN	326	I	T	Polymorphism	-
P13535	MYH8_HUMAN	674	R	Q	Disease	Arthrogryposis, distal, 7 (DA7) [MIM:158300]
P13535	MYH8_HUMAN	636	A	V	Polymorphism	-
P13535	MYH8_HUMAN	1692	W	R	Polymorphism	-
P13569	CFTR_HUMAN	560	R	K	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	506	I	V	Polymorphism	-
P13569	CFTR_HUMAN	967	L	S	Polymorphism	-
P13569	CFTR_HUMAN	351	T	S	Polymorphism	-
P13569	CFTR_HUMAN	1070	R	W	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	1065	L	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1066	R	C	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1032	Y	C	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	562	V	I	Unclassified	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1072	P	L	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	558	L	S	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1071	Q	P	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	504	E	Q	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	620	H	P	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	619	L	S	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	614	D	G	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	903	Y	H	Polymorphism	-
P13569	CFTR_HUMAN	1070	R	P	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	613	A	T	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	977	S	F	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	569	Y	D	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1153	V	E	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	766	R	M	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	909	S	I	Polymorphism	-
P13569	CFTR_HUMAN	866	C	Y	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	492	S	F	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	470	V	M	Polymorphism	-
P13569	CFTR_HUMAN	1067	A	T	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1066	R	H	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1066	R	L	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	959	A	V	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	1069	G	R	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	1028	M	I	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	754	V	M	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	571	L	S	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1352	Q	H	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	443	D	Y	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	792	R	G	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	139	H	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	109	Y	C	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	622	G	D	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	576	G	A	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	98	Q	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1027	I	T	Polymorphism	-
P13569	CFTR_HUMAN	1065	L	P	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	513	D	G	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	110	D	H	Unclassified	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	549	S	N	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	549	S	I	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	560	R	T	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	665	T	S	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	628	G	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	508	F	C	Polymorphism	-
P13569	CFTR_HUMAN	506	I	M	Polymorphism	-
P13569	CFTR_HUMAN	322	V	M	Polymorphism	-
P13569	CFTR_HUMAN	110	D	H	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	91	G	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	92	E	K	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	601	I	F	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	117	R	H	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	574	P	H	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1200	K	E	Unclassified	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	520	V	F	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	562	V	L	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	822	E	K	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	620	H	Q	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	141	A	D	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	507	I	V	Polymorphism	-
P13569	CFTR_HUMAN	111	P	L	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	105	I	S	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	117	R	C	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1101	M	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1006	A	E	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	579	D	G	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	633	L	P	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	560	R	S	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	572	D	N	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	556	I	V	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	1067	A	V	Polymorphism	-
P13569	CFTR_HUMAN	232	V	D	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	120	A	T	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	654	S	G	Polymorphism	-
P13569	CFTR_HUMAN	618	I	T	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	117	R	H	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	610	L	S	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	912	S	L	Polymorphism	-
P13569	CFTR_HUMAN	480	G	C	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1052	F	V	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1061	G	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	997	L	F	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	544	G	V	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	807	I	M	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	605	S	F	Polymorphism	-
P13569	CFTR_HUMAN	455	A	E	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	353	Q	H	Polymorphism	-
P13569	CFTR_HUMAN	467	L	F	Polymorphism	-
P13569	CFTR_HUMAN	458	G	V	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1013	P	L	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	57	W	G	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	359	Q	K	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	87	F	L	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	569	Y	C	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	563	Y	N	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	559	A	T	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	693	F	L	Unclassified	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	334	R	W	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	917	Y	C	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1077	L	P	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1070	R	Q	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1349	G	D	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	138	L	P	Polymorphism	-
P13569	CFTR_HUMAN	952	M	I	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	1364	A	V	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	117	R	P	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	117	R	L	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	549	S	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	258	R	G	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	1085	H	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	314	G	E	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	651	D	N	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	347	R	P	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	352	R	Q	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	182	S	G	Polymorphism	-
P13569	CFTR_HUMAN	74	R	W	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	347	R	H	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	206	L	W	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	1303	N	K	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	193	E	K	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	952	M	I	Unclassified	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	551	G	D	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	569	Y	H	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	562	V	I	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	668	R	C	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	800	A	G	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	85	G	E	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	826	E	K	Polymorphism	-
P13569	CFTR_HUMAN	148	I	T	Unclassified	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	75	R	Q	Polymorphism	-
P13569	CFTR_HUMAN	1397	V	E	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	42	S	F	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1286	F	S	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	199	H	Y	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	206	L	W	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	561	A	E	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	244	M	K	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	301	Y	C	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	532	K	E	Polymorphism	-
P13569	CFTR_HUMAN	949	H	Y	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	456	V	F	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	347	R	L	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	44	D	G	Unclassified	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	913	Y	C	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	225	C	R	Unclassified	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	170	R	H	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	44	D	V	Polymorphism	-
P13569	CFTR_HUMAN	205	P	S	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1152	D	H	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	1162	R	L	Polymorphism	-
P13569	CFTR_HUMAN	1220	T	I	Polymorphism	-
P13569	CFTR_HUMAN	307	S	N	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1453	R	W	Polymorphism	-
P13569	CFTR_HUMAN	997	L	F	Unclassified	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	338	T	I	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1283	R	M	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1005	I	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	67	P	L	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	74	R	W	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	50	S	Y	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	31	R	L	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1234	I	V	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	193	E	K	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1137	M	V	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1101	M	K	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	648	D	V	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1291	Q	H	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1251	S	N	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1270	D	N	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	336	I	K	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1303	N	H	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	334	R	W	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	314	G	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	938	V	G	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	1291	Q	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	551	G	S	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1152	D	H	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	178	G	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1282	W	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	13	S	F	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	297	R	Q	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1255	S	P	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	346	L	P	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	311	F	L	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	553	R	Q	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	31	R	C	Polymorphism	-
P13569	CFTR_HUMAN	287	N	Y	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1270	D	N	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	1249	G	E	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	199	H	Q	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	149	G	R	Disease	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569	CFTR_HUMAN	1098	W	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1235	S	R	Disease	Cystic fibrosis (CF) [MIM:219700]
P13569	CFTR_HUMAN	1244	G	E	Disease	Cystic fibrosis (CF) [MIM:219700]
P13584	CP4B1_HUMAN	111	A	V	Polymorphism	-
P13584	CP4B1_HUMAN	482	R	Q	Polymorphism	-
P13584	CP4B1_HUMAN	322	S	G	Polymorphism	-
P13584	CP4B1_HUMAN	331	M	I	Polymorphism	-
P13584	CP4B1_HUMAN	274	R	Q	Polymorphism	-
P13584	CP4B1_HUMAN	354	F	C	Polymorphism	-
P13584	CP4B1_HUMAN	340	R	C	Polymorphism	-
P13584	CP4B1_HUMAN	329	Y	S	Polymorphism	-
P13584	CP4B1_HUMAN	345	V	I	Polymorphism	-
P13584	CP4B1_HUMAN	173	R	W	Polymorphism	-
P13584	CP4B1_HUMAN	375	R	C	Polymorphism	-
P13584	CP4B1_HUMAN	264	R	W	Polymorphism	-
P13591	NCAM1_HUMAN	834	T	M	Polymorphism	-
P13591	NCAM1_HUMAN	679	E	D	Polymorphism	-
P13591	NCAM1_HUMAN	260	D	N	Polymorphism	-
P13591	NCAM1_HUMAN	7	L	F	Polymorphism	-
P13598	ICAM2_HUMAN	199	R	H	Polymorphism	-
P13598	ICAM2_HUMAN	256	R	Q	Polymorphism	-
P13598	ICAM2_HUMAN	37	A	T	Polymorphism	-
P13611	CSPG2_HUMAN	1516	K	R	Polymorphism	-
P13611	CSPG2_HUMAN	1826	R	H	Polymorphism	-
P13611	CSPG2_HUMAN	428	G	D	Polymorphism	-
P13611	CSPG2_HUMAN	2301	F	Y	Polymorphism	-
P13611	CSPG2_HUMAN	300	S	L	Polymorphism	-
P13611	CSPG2_HUMAN	2937	D	Y	Polymorphism	-
P13611	CSPG2_HUMAN	3011	N	K	Polymorphism	-
P13611	CSPG2_HUMAN	2315	V	L	Polymorphism	-
P13612	ITA4_HUMAN	824	V	A	Polymorphism	-
P13612	ITA4_HUMAN	634	S	T	Polymorphism	-
P13612	ITA4_HUMAN	878	R	Q	Polymorphism	-
P13631	RARG_HUMAN	430	G	S	Unclassified	A breast cancer sample
P13631	RARG_HUMAN	427	S	L	Polymorphism	-
P13637	AT1A3_HUMAN	274	I	T	Disease	Dystonia 12 (DYT12) [MIM:128235]
P13637	AT1A3_HUMAN	755	G	S	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	274	I	N	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	801	D	Y	Disease	Dystonia 12 (DYT12) [MIM:128235]
P13637	AT1A3_HUMAN	613	T	M	Disease	Dystonia 12 (DYT12) [MIM:128235]
P13637	AT1A3_HUMAN	758	I	S	Disease	Dystonia 12 (DYT12) [MIM:128235]
P13637	AT1A3_HUMAN	773	N	S	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	137	S	F	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	923	D	Y	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	140	Q	L	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	137	S	Y	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	277	E	K	Disease	Dystonia 12 (DYT12) [MIM:128235]
P13637	AT1A3_HUMAN	810	I	S	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	815	E	K	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	801	D	N	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	955	A	D	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	333	C	F	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	220	D	N	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	320	A	T	Disease	-
P13637	AT1A3_HUMAN	927	C	Y	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	322	V	D	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	818	E	K	Disease	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) [MIM:601338]
P13637	AT1A3_HUMAN	755	G	C	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	811	S	P	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	371	L	P	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	780	F	L	Disease	Dystonia 12 (DYT12) [MIM:128235]
P13637	AT1A3_HUMAN	806	M	R	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	992	D	Y	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	772	S	R	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	773	N	I	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13637	AT1A3_HUMAN	923	D	N	Disease	Dystonia 12 (DYT12) [MIM:128235]
P13637	AT1A3_HUMAN	947	G	R	Disease	Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]
P13639	EF2_HUMAN	596	P	H	Disease	Spinocerebellar ataxia 26 (SCA26) [MIM:609306]
P13645	K1C10_HUMAN	156	R	P	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	154	N	H	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	156	R	H	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	446	I	T	Disease	Ichthyosis annular epidermolytic (AEI) [MIM:607602]
P13645	K1C10_HUMAN	449	Y	C	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	160	Y	S	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	156	R	C	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	160	Y	N	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	160	Y	D	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	439	K	E	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	487	H	Y	Polymorphism	-
P13645	K1C10_HUMAN	101	I	S	Polymorphism	-
P13645	K1C10_HUMAN	161	L	S	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	422	R	E	Disease	Ichthyosis annular epidermolytic (AEI) [MIM:607602]
P13645	K1C10_HUMAN	150	M	T	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	442	L	Q	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	150	M	R	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	156	R	S	Disease	Epidermolytic hyperkeratosis (EHK) [MIM:113800]
P13645	K1C10_HUMAN	126	G	S	Polymorphism	-
P13646	K1C13_HUMAN	108	M	T	Disease	White sponge nevus 2 (WSN2) [MIM:615785]
P13646	K1C13_HUMAN	298	T	A	Polymorphism	-
P13646	K1C13_HUMAN	112	N	S	Disease	White sponge nevus 2 (WSN2) [MIM:615785]
P13646	K1C13_HUMAN	81	F	Y	Polymorphism	-
P13646	K1C13_HUMAN	111	L	P	Disease	White sponge nevus 2 (WSN2) [MIM:615785]
P13646	K1C13_HUMAN	187	A	V	Polymorphism	-
P13646	K1C13_HUMAN	146	A	G	Polymorphism	-
P13646	K1C13_HUMAN	115	L	P	Disease	White sponge nevus 2 (WSN2) [MIM:615785]
P13646	K1C13_HUMAN	119	L	P	Disease	White sponge nevus 2 (WSN2) [MIM:615785]
P13647	K2C5_HUMAN	469	T	P	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	387	S	T	Polymorphism	-
P13647	K2C5_HUMAN	186	V	E	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	475	E	K	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	438	A	D	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	543	G	S	Polymorphism	-
P13647	K2C5_HUMAN	325	L	P	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P13647	K2C5_HUMAN	232	S	N	Polymorphism	-
P13647	K2C5_HUMAN	327	M	K	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	170	E	K	Disease	Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]
P13647	K2C5_HUMAN	467	I	T	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	165	R	S	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	186	V	L	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P13647	K2C5_HUMAN	328	D	V	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	197	D	E	Polymorphism	-
P13647	K2C5_HUMAN	143	V	D	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P13647	K2C5_HUMAN	167	E	K	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	329	N	K	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	173	K	N	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P13647	K2C5_HUMAN	328	D	H	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	79	S	R	Polymorphism	-
P13647	K2C5_HUMAN	517	G	D	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P13647	K2C5_HUMAN	199	K	T	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	404	K	E	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	323	V	A	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P13647	K2C5_HUMAN	169	R	P	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	528	S	G	Polymorphism	-
P13647	K2C5_HUMAN	311	L	P	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	477	E	K	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	179	F	S	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	175	L	F	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	331	R	C	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	352	R	S	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	321	T	P	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	177	N	S	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	324	V	D	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	428	A	T	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	418	E	K	Disease	Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]
P13647	K2C5_HUMAN	328	D	E	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	181	S	P	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	176	N	S	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	152	P	L	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	191	Q	P	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P13647	K2C5_HUMAN	190	E	K	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	328	D	G	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	331	R	H	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	168	E	K	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	463	L	P	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P13647	K2C5_HUMAN	475	E	G	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	161	I	S	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	186	V	M	Disease	Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]
P13647	K2C5_HUMAN	138	G	E	Polymorphism	-
P13647	K2C5_HUMAN	158	D	V	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	193	N	K	Disease	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]
P13647	K2C5_HUMAN	193	N	K	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13647	K2C5_HUMAN	25	P	L	Disease	Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS) [MIM:131960]
P13647	K2C5_HUMAN	327	M	T	Disease	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]
P13667	PDIA4_HUMAN	173	T	M	Polymorphism	-
P13671	CO6_HUMAN	119	A	E	Polymorphism	-
P13671	CO6_HUMAN	397	K	E	Polymorphism	-
P13671	CO6_HUMAN	470	S	F	Polymorphism	-
P13686	PPA5_HUMAN	264	M	K	Disease	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
P13686	PPA5_HUMAN	148	V	M	Polymorphism	-
P13686	PPA5_HUMAN	89	T	I	Disease	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
P13686	PPA5_HUMAN	262	N	H	Disease	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
P13686	PPA5_HUMAN	201	L	P	Disease	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
P13686	PPA5_HUMAN	241	D	N	Disease	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
P13686	PPA5_HUMAN	52	K	M	Disease	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
P13686	PPA5_HUMAN	221	V	I	Polymorphism	-
P13686	PPA5_HUMAN	200	V	M	Polymorphism	-
P13686	PPA5_HUMAN	215	G	R	Disease	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
P13686	PPA5_HUMAN	109	G	R	Disease	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
P13688	CEAM1_HUMAN	35	Q	K	Polymorphism	-
P13688	CEAM1_HUMAN	123	Q	H	Polymorphism	-
P13688	CEAM1_HUMAN	83	A	V	Polymorphism	-
P13688	CEAM1_HUMAN	376	Q	R	Polymorphism	-
P13693	TCTP_HUMAN	146	V	F	Polymorphism	-
P13716	HEM2_HUMAN	240	R	W	Disease	Acute hepatic porphyria (AHEPP) [MIM:612740]
P13716	HEM2_HUMAN	12	F	L	Polymorphism	-
P13716	HEM2_HUMAN	153	V	M	Disease	Acute hepatic porphyria (AHEPP) [MIM:612740]
P13716	HEM2_HUMAN	274	A	T	Disease	Acute hepatic porphyria (AHEPP) [MIM:612740]
P13716	HEM2_HUMAN	275	V	M	Disease	Acute hepatic porphyria (AHEPP) [MIM:612740]
P13716	HEM2_HUMAN	133	G	R	Disease	Acute hepatic porphyria (AHEPP) [MIM:612740]
P13716	HEM2_HUMAN	59	K	N	Polymorphism	-
P13725	ONCM_HUMAN	9	T	M	Polymorphism	-
P13726	TF_HUMAN	36	T	A	Polymorphism	-
P13726	TF_HUMAN	145	I	V	Polymorphism	-
P13726	TF_HUMAN	163	R	W	Polymorphism	-
P13726	TF_HUMAN	281	G	E	Polymorphism	-
P13727	PRG2_HUMAN	206	H	Y	Polymorphism	-
P13727	PRG2_HUMAN	179	R	C	Unclassified	A colorectal cancer sample
P13746	1A11_HUMAN	131	G	W	Polymorphism	-
P13746	1A11_HUMAN	101	D	N	Polymorphism	-
P13746	1A11_HUMAN	168	K	E	Polymorphism	-
P13746	1A11_HUMAN	175	H	R	Polymorphism	-
P13746	1A11_HUMAN	43	E	K	Polymorphism	-
P13746	1A11_HUMAN	133	F	L	Polymorphism	-
P13746	1A11_HUMAN	94	Q	H	Polymorphism	-
P13746	1A11_HUMAN	151	N	K	Polymorphism	-
P13746	1A11_HUMAN	166	I	T	Polymorphism	-
P13746	1A11_HUMAN	205	R	H	Polymorphism	-
P13746	1A11_HUMAN	89	R	G	Polymorphism	-
P13746	1A11_HUMAN	187	R	T	Polymorphism	-
P13746	1A11_HUMAN	169	R	H	Polymorphism	-
P13746	1A11_HUMAN	345	T	S	Polymorphism	-
P13746	1A11_HUMAN	176	A	E	Polymorphism	-
P13747	HLAE_HUMAN	128	G	R	Polymorphism	-
P13747	HLAE_HUMAN	98	N	K	Polymorphism	-
P13747	HLAE_HUMAN	178	R	G	Polymorphism	-
P13760	2B14_HUMAN	115	G	V	Polymorphism	-
P13760	2B14_HUMAN	86	D	S	Polymorphism	-
P13760	2B14_HUMAN	99	Q	D	Polymorphism	-
P13760	2B14_HUMAN	103	A	E	Polymorphism	-
P13760	2B14_HUMAN	96	L	I	Polymorphism	-
P13760	2B14_HUMAN	100	K	E	Polymorphism	-
P13760	2B14_HUMAN	262	T	R	Polymorphism	-
P13760	2B14_HUMAN	100	K	R	Polymorphism	-
P13760	2B14_HUMAN	5	K	R	Polymorphism	-
P13761	2B17_HUMAN	5	K	R	Polymorphism	-
P13761	2B17_HUMAN	106	T	N	Polymorphism	-
P13761	2B17_HUMAN	262	T	R	Polymorphism	-
P13761	2B17_HUMAN	107	V	Y	Polymorphism	-
P13761	2B17_HUMAN	58	R	S	Polymorphism	-
P13762	DRB4_HUMAN	106	T	N	Polymorphism	-
P13762	DRB4_HUMAN	105	D	G	Polymorphism	-
P13762	DRB4_HUMAN	113	G	R	Polymorphism	-
P13762	DRB4_HUMAN	110	Y	H	Polymorphism	-
P13762	DRB4_HUMAN	164	G	S	Polymorphism	-
P13762	DRB4_HUMAN	141	H	Y	Polymorphism	-
P13765	DOB_HUMAN	18	R	Q	Polymorphism	-
P13765	DOB_HUMAN	244	V	I	Polymorphism	-
P13765	DOB_HUMAN	234	L	F	Polymorphism	-
P13765	DOB_HUMAN	210	V	I	Polymorphism	-
P13796	PLSL_HUMAN	533	K	E	Polymorphism	-
P13796	PLSL_HUMAN	608	N	S	Unclassified	-
P13796	PLSL_HUMAN	544	P	A	Polymorphism	-
P13796	PLSL_HUMAN	24	D	E	Polymorphism	-
P13797	PLST_HUMAN	488	D	A	Unclassified	A breast cancer sample
P13798	ACPH_HUMAN	541	T	M	Polymorphism	-
P13804	ETFA_HUMAN	157	V	G	Disease	Glutaric aciduria 2A (GA2A) [MIM:231680]
P13804	ETFA_HUMAN	266	T	M	Disease	Glutaric aciduria 2A (GA2A) [MIM:231680]
P13804	ETFA_HUMAN	116	G	R	Disease	Glutaric aciduria 2A (GA2A) [MIM:231680]
P13804	ETFA_HUMAN	171	T	I	Polymorphism	-
P13807	GYS1_HUMAN	464	G	S	Polymorphism	-
P13807	GYS1_HUMAN	416	M	V	Polymorphism	-
P13807	GYS1_HUMAN	108	I	M	Polymorphism	-
P13807	GYS1_HUMAN	130	K	E	Polymorphism	-
P13807	GYS1_HUMAN	619	E	Q	Polymorphism	-
P13807	GYS1_HUMAN	359	E	G	Polymorphism	-
P13807	GYS1_HUMAN	691	P	A	Polymorphism	-
P13807	GYS1_HUMAN	283	N	S	Polymorphism	-
P13866	SC5A1_HUMAN	318	G	R	Disease	Congenital glucose/galactose malabsorption (GGM) [MIM:606824]
P13866	SC5A1_HUMAN	411	A	T	Polymorphism	-
P13866	SC5A1_HUMAN	135	R	W	Disease	Congenital glucose/galactose malabsorption (GGM) [MIM:606824]
P13866	SC5A1_HUMAN	468	A	V	Disease	Congenital glucose/galactose malabsorption (GGM) [MIM:606824]
P13866	SC5A1_HUMAN	28	D	N	Disease	Congenital glucose/galactose malabsorption (GGM) [MIM:606824]
P13866	SC5A1_HUMAN	28	D	G	Disease	Congenital glucose/galactose malabsorption (GGM) [MIM:606824]
P13866	SC5A1_HUMAN	51	N	S	Polymorphism	-
P13928	ANXA8_HUMAN	177	G	A	Polymorphism	-
P13928	ANXA8_HUMAN	6	S	A	Polymorphism	-
P13929	ENOB_HUMAN	374	G	E	Disease	Glycogen storage disease 13 (GSD13) [MIM:612932]
P13929	ENOB_HUMAN	85	V	A	Polymorphism	-
P13929	ENOB_HUMAN	156	G	D	Disease	Glycogen storage disease 13 (GSD13) [MIM:612932]
P13929	ENOB_HUMAN	71	N	S	Polymorphism	-
P13942	COBA2_HUMAN	1422	P	L	Polymorphism	-
P13942	COBA2_HUMAN	894	L	P	Polymorphism	-
P13942	COBA2_HUMAN	593	D	G	Polymorphism	-
P13942	COBA2_HUMAN	888	P	T	Disease	Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706]
P13942	COBA2_HUMAN	1034	R	C	Disease	Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868]
P13942	COBA2_HUMAN	1600	R	Q	Polymorphism	-
P13942	COBA2_HUMAN	1722	P	L	Polymorphism	-
P13942	COBA2_HUMAN	808	G	E	Disease	Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868]
P13942	COBA2_HUMAN	661	G	R	Disease	Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB) [MIM:215150]
P13942	COBA2_HUMAN	37	A	S	Disease	Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706]
P13942	COBA2_HUMAN	1628	E	D	Polymorphism	-
P13942	COBA2_HUMAN	879	P	L	Polymorphism	-
P13942	COBA2_HUMAN	1316	P	T	Polymorphism	-
P13942	COBA2_HUMAN	1441	G	E	Disease	Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA) [MIM:184840]
P13942	COBA2_HUMAN	276	E	K	Polymorphism	-
P13942	COBA2_HUMAN	236	P	S	Polymorphism	-
P13942	COBA2_HUMAN	824	E	K	Polymorphism	-
P13942	COBA2_HUMAN	621	P	T	Disease	Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706]
P13945	ADRB3_HUMAN	353	R	C	Polymorphism	-
P13945	ADRB3_HUMAN	265	T	M	Polymorphism	-
P13945	ADRB3_HUMAN	249	E	K	Polymorphism	-
P13945	ADRB3_HUMAN	64	W	R	Polymorphism	-
P13987	CD59_HUMAN	89	C	Y	Disease	Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59) [MIM:612300]
P13994	CC130_HUMAN	22	S	C	Polymorphism	-
P13994	CC130_HUMAN	336	C	S	Polymorphism	-
P14060	3BHS1_HUMAN	71	R	I	Polymorphism	-
P14060	3BHS1_HUMAN	54	T	I	Polymorphism	-
P14060	3BHS1_HUMAN	286	F	L	Polymorphism	-
P14060	3BHS1_HUMAN	367	T	N	Polymorphism	-
P14060	3BHS1_HUMAN	79	I	V	Polymorphism	-
P14060	3BHS1_HUMAN	90	G	S	Polymorphism	-
P14061	DHB1_HUMAN	238	A	V	Polymorphism	-
P14061	DHB1_HUMAN	313	G	S	Polymorphism	-
P14091	CATE_HUMAN	324	T	I	Polymorphism	-
P14091	CATE_HUMAN	82	I	V	Polymorphism	-
P14136	GFAP_HUMAN	73	M	K	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	239	R	P	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	279	K	E	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	257	Y	C	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	115	V	I	Polymorphism	-
P14136	GFAP_HUMAN	276	R	L	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	210	E	K	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	207	E	Q	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	242	Y	D	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	253	A	G	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	157	D	N	Polymorphism	-
P14136	GFAP_HUMAN	239	R	H	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	258	R	P	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	88	R	C	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	352	L	P	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	267	A	P	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	78	D	E	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	235	L	P	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	88	R	S	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	244	A	V	Unclassified	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	207	E	K	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	76	L	F	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	97	L	P	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	66	R	Q	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	385	S	F	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	73	M	T	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	72	E	K	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	239	R	C	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	362	E	D	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	223	E	Q	Polymorphism	-
P14136	GFAP_HUMAN	79	R	H	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	77	N	Y	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	79	R	C	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	101	L	P	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	236	K	T	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	79	R	P	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	78	D	N	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	83	Y	H	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	374	E	G	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	376	R	G	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	416	R	W	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	79	R	G	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	74	M	T	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	295	D	N	Polymorphism	-
P14136	GFAP_HUMAN	70	R	Q	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	359	L	V	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	332	E	K	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	239	R	L	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	359	L	P	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	73	M	R	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	366	Y	H	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	373	E	K	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	77	N	S	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	47	P	L	Polymorphism	-
P14136	GFAP_HUMAN	70	R	W	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	79	R	L	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	373	E	D	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	63	K	Q	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	77	N	K	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	76	L	V	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	90	L	P	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	374	E	Q	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	330	R	G	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	373	E	Q	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	364	A	P	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	371	E	V	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	371	E	Q	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14136	GFAP_HUMAN	86	K	E	Disease	Alexander disease (ALXDRD) [MIM:203450]
P14138	EDN3_HUMAN	224	A	T	Disease	Hirschsprung disease 4 (HSCR4) [MIM:613712]
P14138	EDN3_HUMAN	127	Y	C	Disease	Waardenburg syndrome 4B (WS4B) [MIM:613265]
P14138	EDN3_HUMAN	17	A	T	Polymorphism	-
P14138	EDN3_HUMAN	159	C	F	Disease	Waardenburg syndrome 4B (WS4B) [MIM:613265]
P14151	LYAM1_HUMAN	193	F	L	Polymorphism	-
P14151	LYAM1_HUMAN	369	N	D	Polymorphism	-
P14151	LYAM1_HUMAN	213	P	S	Polymorphism	-
P14151	LYAM1_HUMAN	201	E	Q	Polymorphism	-
P14207	FOLR2_HUMAN	236	H	N	Unclassified	A breast cancer sample
P14209	CD99_HUMAN	166	M	V	Polymorphism	-
P14209	CD99_HUMAN	173	N	I	Polymorphism	-
P14210	HGF_HUMAN	330	D	Y	Polymorphism	-
P14210	HGF_HUMAN	304	E	K	Polymorphism	-
P14222	PERF_HUMAN	4	R	H	Polymorphism	-
P14222	PERF_HUMAN	91	A	V	Polymorphism	-
P14222	PERF_HUMAN	345	P	L	Disease	Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]
P14222	PERF_HUMAN	429	G	E	Disease	Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]
P14222	PERF_HUMAN	50	V	M	Disease	Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]
P14222	PERF_HUMAN	224	I	N	Disease	Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]
P14222	PERF_HUMAN	183	V	G	Disease	Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]
P14222	PERF_HUMAN	123	R	H	Polymorphism	-
P14222	PERF_HUMAN	135	V	M	Polymorphism	-
P14222	PERF_HUMAN	279	C	Y	Disease	Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]
P14222	PERF_HUMAN	252	N	S	Disease	Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]
P14222	PERF_HUMAN	225	R	W	Disease	Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]
P14314	GLU2B_HUMAN	74	S	N	Polymorphism	-
P14314	GLU2B_HUMAN	291	A	T	Polymorphism	-
P14314	GLU2B_HUMAN	338	A	G	Polymorphism	-
P14317	HCLS1_HUMAN	235	T	A	Polymorphism	-
P14317	HCLS1_HUMAN	361	E	K	Polymorphism	-
P14317	HCLS1_HUMAN	436	V	L	Polymorphism	-
P14324	FPPS_HUMAN	364	V	A	Polymorphism	-
P14324	FPPS_HUMAN	179	R	Q	Disease	Porokeratosis 9, multiple types (POROK9) [MIM:616631]
P14324	FPPS_HUMAN	391	I	V	Polymorphism	-
P14384	CBPM_HUMAN	24	R	H	Polymorphism	-
P14384	CBPM_HUMAN	133	V	I	Polymorphism	-
P14406	CX7A2_HUMAN	40	E	D	Polymorphism	-
P14410	SUIS_HUMAN	620	L	P	Disease	Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
P14410	SUIS_HUMAN	1802	T	S	Polymorphism	-
P14410	SUIS_HUMAN	1523	M	I	Polymorphism	-
P14410	SUIS_HUMAN	15	V	F	Polymorphism	-
P14410	SUIS_HUMAN	231	T	A	Polymorphism	-
P14410	SUIS_HUMAN	341	L	P	Disease	Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
P14410	SUIS_HUMAN	1229	C	Y	Disease	Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
P14410	SUIS_HUMAN	1073	G	D	Disease	Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
P14410	SUIS_HUMAN	694	T	P	Disease	Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
P14410	SUIS_HUMAN	1098	Q	P	Disease	Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
P14410	SUIS_HUMAN	117	Q	R	Disease	Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
P14410	SUIS_HUMAN	577	V	G	Disease	Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
P14410	SUIS_HUMAN	1367	R	G	Disease	Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
P14410	SUIS_HUMAN	594	S	P	Disease	Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
P14410	SUIS_HUMAN	1745	F	C	Disease	Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
P14415	AT1B2_HUMAN	199	T	A	Polymorphism	-
P14415	AT1B2_HUMAN	124	Q	L	Polymorphism	-
P14416	DRD2_HUMAN	310	P	S	Polymorphism	-
P14416	DRD2_HUMAN	311	S	C	Polymorphism	-
P14416	DRD2_HUMAN	327	K	E	Polymorphism	-
P14416	DRD2_HUMAN	154	V	I	Unclassified	-
P14543	NID1_HUMAN	970	K	E	Polymorphism	-
P14543	NID1_HUMAN	387	R	H	Polymorphism	-
P14543	NID1_HUMAN	1036	F	S	Unclassified	A colorectal cancer sample
P14543	NID1_HUMAN	1163	L	V	Polymorphism	-
P14543	NID1_HUMAN	1246	Q	R	Polymorphism	-
P14543	NID1_HUMAN	31	R	L	Polymorphism	-
P14543	NID1_HUMAN	60	S	R	Polymorphism	-
P14543	NID1_HUMAN	302	R	H	Polymorphism	-
P14543	NID1_HUMAN	807	Q	H	Polymorphism	-
P14543	NID1_HUMAN	335	R	H	Polymorphism	-
P14543	NID1_HUMAN	1226	T	I	Polymorphism	-
P14543	NID1_HUMAN	669	Q	R	Polymorphism	-
P14543	NID1_HUMAN	246	V	I	Polymorphism	-
P14550	AK1A1_HUMAN	55	E	D	Polymorphism	-
P14550	AK1A1_HUMAN	52	N	S	Polymorphism	-
P14555	PA2GA_HUMAN	19	H	Y	Polymorphism	-
P14598	NCF1_HUMAN	166	N	D	Polymorphism	-
P14598	NCF1_HUMAN	258	K	E	Polymorphism	-
P14598	NCF1_HUMAN	99	S	G	Polymorphism	-
P14598	NCF1_HUMAN	90	R	H	Polymorphism	-
P14598	NCF1_HUMAN	262	G	S	Polymorphism	-
P14598	NCF1_HUMAN	160	T	S	Polymorphism	-
P14598	NCF1_HUMAN	42	R	Q	Disease	Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive (CGD1) [MIM:233700]
P14598	NCF1_HUMAN	308	A	V	Polymorphism	-
P14616	INSRR_HUMAN	1065	G	E	Unclassified	A glioblastoma multiforme sample
P14616	INSRR_HUMAN	246	C	R	Polymorphism	-
P14616	INSRR_HUMAN	127	A	E	Polymorphism	-
P14616	INSRR_HUMAN	161	A	V	Polymorphism	-
P14616	INSRR_HUMAN	928	P	L	Polymorphism	-
P14616	INSRR_HUMAN	278	E	Q	Unclassified	A lung adenocarcinoma sample
P14616	INSRR_HUMAN	554	R	C	Polymorphism	-
P14616	INSRR_HUMAN	244	R	H	Polymorphism	-
P14618	KPYM_HUMAN	204	G	V	Polymorphism	-
P14651	HXB3_HUMAN	82	P	T	Polymorphism	-
P14653	HXB1_HUMAN	103	Q	H	Polymorphism	-
P14653	HXB1_HUMAN	265	E	G	Polymorphism	-
P14653	HXB1_HUMAN	71	T	N	Polymorphism	-
P14653	HXB1_HUMAN	207	R	C	Disease	Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]
P14672	GLUT4_HUMAN	383	V	I	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P14672	GLUT4_HUMAN	55	S	R	Polymorphism	-
P14672	GLUT4_HUMAN	385	I	T	Polymorphism	-
P14672	GLUT4_HUMAN	358	A	V	Polymorphism	-
P14672	GLUT4_HUMAN	78	T	S	Polymorphism	-
P14678	RSMB_HUMAN	55	N	T	Disease	Cerebrocostomandibular syndrome (CCMS) [MIM:117650]
P14678	RSMB_HUMAN	56	S	W	Disease	Cerebrocostomandibular syndrome (CCMS) [MIM:117650]
P14678	RSMB_HUMAN	56	S	R	Disease	Cerebrocostomandibular syndrome (CCMS) [MIM:117650]
P14678	RSMB_HUMAN	79	S	P	Polymorphism	-
P14678	RSMB_HUMAN	55	N	S	Disease	Cerebrocostomandibular syndrome (CCMS) [MIM:117650]
P14679	TYRO_HUMAN	275	V	F	Disease	Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]
P14679	TYRO_HUMAN	275	V	F	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	89	C	R	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	380	S	P	Disease	Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]
P14679	TYRO_HUMAN	77	R	W	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	299	R	H	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	80	W	R	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	217	R	W	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	253	G	R	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	81	P	L	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	239	R	W	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	272	W	C	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	77	R	Q	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	355	A	P	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	44	S	G	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	312	L	V	Polymorphism	-
P14679	TYRO_HUMAN	155	T	S	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	217	R	Q	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	340	F	L	Polymorphism	-
P14679	TYRO_HUMAN	325	T	A	Disease	Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]
P14679	TYRO_HUMAN	36	C	Y	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	68	Q	H	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	199	D	N	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	55	C	Y	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	308	R	T	Polymorphism	-
P14679	TYRO_HUMAN	217	R	G	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	217	R	S	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	313	P	R	Polymorphism	-
P14679	TYRO_HUMAN	21	P	S	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	109	G	R	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	339	S	G	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	206	A	T	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	47	G	V	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	395	S	R	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	398	E	A	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	180	H	N	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	44	S	R	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	289	C	G	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	179	M	L	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	405	R	L	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	177	V	F	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	299	R	S	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	400	W	L	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	382	N	K	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	176	F	I	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	427	V	G	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	355	A	V	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	289	C	R	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	256	H	Y	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	435	N	D	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	91	C	Y	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	424	S	F	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	142	K	N	Polymorphism	-
P14679	TYRO_HUMAN	192	S	Y	Polymorphism	-
P14679	TYRO_HUMAN	47	G	D	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	298	R	W	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	240	D	V	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	97	G	R	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	79	S	L	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	409	E	D	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	201	A	S	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	373	T	K	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	408	Q	H	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	404	H	P	Polymorphism	-
P14679	TYRO_HUMAN	426	M	K	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	416	A	S	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	402	R	L	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	490	A	D	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	42	D	G	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	393	V	F	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	370	M	T	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	384	P	A	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	205	P	T	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	371	N	T	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	431	P	L	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	398	E	V	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	243	K	T	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	198	I	T	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	52	R	I	Polymorphism	-
P14679	TYRO_HUMAN	134	F	C	Polymorphism	-
P14679	TYRO_HUMAN	439	F	V	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	390	H	D	Disease	Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]
P14679	TYRO_HUMAN	444	D	G	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	346	G	E	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	417	P	H	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	378	Q	K	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	383	D	N	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	50	S	L	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	19	H	Q	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	367	H	Y	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	422	R	Q	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	216	L	M	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	403	R	S	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	236	W	L	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	152	P	S	Disease	Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]
P14679	TYRO_HUMAN	419	G	R	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	294	E	G	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	318	V	E	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	329	S	P	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	294	E	K	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	294	E	K	Disease	Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]
P14679	TYRO_HUMAN	364	N	H	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	404	H	N	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	345	E	G	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	395	S	N	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	332	M	T	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	402	R	Q	Polymorphism	-
P14679	TYRO_HUMAN	403	R	S	Disease	Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]
P14679	TYRO_HUMAN	406	P	L	Disease	Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]
P14679	TYRO_HUMAN	422	R	Q	Disease	Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]
P14679	TYRO_HUMAN	236	W	S	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	434	R	I	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	402	R	G	Disease	Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]
P14679	TYRO_HUMAN	448	D	N	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	446	G	S	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	355	A	E	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	371	N	Y	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	288	L	S	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	328	E	Q	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	406	P	L	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14679	TYRO_HUMAN	361	S	R	Disease	Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]
P14770	GPIX_HUMAN	24	C	R	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P14770	GPIX_HUMAN	37	D	G	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P14770	GPIX_HUMAN	113	C	Y	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P14770	GPIX_HUMAN	156	A	T	Polymorphism	-
P14770	GPIX_HUMAN	71	F	S	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P14770	GPIX_HUMAN	7	L	P	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P14770	GPIX_HUMAN	56	L	P	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P14770	GPIX_HUMAN	61	N	S	Disease	Bernard-Soulier syndrome (BSS) [MIM:231200]
P14778	IL1R1_HUMAN	124	A	G	Polymorphism	-
P14778	IL1R1_HUMAN	344	T	M	Polymorphism	-
P14780	MMP9_HUMAN	668	R	Q	Polymorphism	-
P14780	MMP9_HUMAN	82	E	K	Polymorphism	-
P14780	MMP9_HUMAN	20	A	V	Polymorphism	-
P14780	MMP9_HUMAN	239	R	H	Polymorphism	-
P14780	MMP9_HUMAN	571	F	V	Polymorphism	-
P14780	MMP9_HUMAN	38	N	S	Polymorphism	-
P14780	MMP9_HUMAN	279	Q	R	Polymorphism	-
P14780	MMP9_HUMAN	574	R	P	Polymorphism	-
P14780	MMP9_HUMAN	127	N	K	Polymorphism	-
P14784	IL2RB_HUMAN	10	L	V	Polymorphism	-
P14784	IL2RB_HUMAN	391	D	E	Polymorphism	-
P14784	IL2RB_HUMAN	83	S	F	Polymorphism	-
P14854	CX6B1_HUMAN	20	R	H	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
P14859	PO2F1_HUMAN	88	S	F	Unclassified	A breast cancer sample
P14867	GBRA1_HUMAN	112	R	Q	Disease	Epileptic encephalopathy, early infantile, 19 (EIEE19) [MIM:615744]
P14867	GBRA1_HUMAN	322	A	D	Disease	Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136]
P14867	GBRA1_HUMAN	251	G	S	Disease	Epileptic encephalopathy, early infantile, 19 (EIEE19) [MIM:615744]
P14867	GBRA1_HUMAN	306	K	T	Disease	Epileptic encephalopathy, early infantile, 19 (EIEE19) [MIM:615744]
P14867	GBRA1_HUMAN	219	D	N	Disease	Epilepsy, idiopathic generalized 13 (EIG13) [MIM:611136]
P14867	GBRA1_HUMAN	146	L	M	Disease	Epileptic encephalopathy, early infantile, 19 (EIEE19) [MIM:615744]
P14868	SYDC_HUMAN	494	R	C	Disease	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
P14868	SYDC_HUMAN	256	M	L	Disease	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
P14868	SYDC_HUMAN	494	R	G	Disease	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
P14868	SYDC_HUMAN	487	R	C	Disease	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
P14868	SYDC_HUMAN	367	D	Y	Disease	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
P14868	SYDC_HUMAN	464	P	L	Disease	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
P14868	SYDC_HUMAN	426	L	F	Polymorphism	-
P14868	SYDC_HUMAN	274	A	V	Disease	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
P14868	SYDC_HUMAN	460	R	H	Disease	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
P14902	I23O1_HUMAN	4	A	T	Polymorphism	-
P14923	PLAK_HUMAN	19	T	I	Disease	Arrhythmogenic right ventricular dysplasia, familial, 12 (ARVD12) [MIM:611528]
P14923	PLAK_HUMAN	697	M	L	Polymorphism	-
P14923	PLAK_HUMAN	142	R	H	Polymorphism	-
P14923	PLAK_HUMAN	648	V	I	Polymorphism	-
P14927	QCR7_HUMAN	30	L	P	Polymorphism	-
P15056	BRAF_HUMAN	466	G	A	Unclassified	Melanoma
P15056	BRAF_HUMAN	257	Q	R	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	586	E	K	Unclassified	Ovarian cancer
P15056	BRAF_HUMAN	469	G	V	Unclassified	A colorectal adenocarcinoma sample
P15056	BRAF_HUMAN	501	E	K	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	499	K	E	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	241	T	P	Disease	LEOPARD syndrome 3 (LPRD3) [MIM:613707]
P15056	BRAF_HUMAN	469	G	E	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	241	T	R	Polymorphism	-
P15056	BRAF_HUMAN	469	G	A	Disease	Familial non-Hodgkin lymphoma (NHL) [MIM:605027]
P15056	BRAF_HUMAN	468	F	S	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	469	G	E	Unclassified	Colon cancer
P15056	BRAF_HUMAN	485	L	F	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	469	G	R	Disease	Familial non-Hodgkin lymphoma (NHL) [MIM:605027]
P15056	BRAF_HUMAN	597	L	V	Disease	Noonan syndrome 7 (NS7) [MIM:613706]
P15056	BRAF_HUMAN	600	V	E	Disease	Colorectal cancer (CRC) [MIM:114500]
P15056	BRAF_HUMAN	301	P	S	Polymorphism	-
P15056	BRAF_HUMAN	596	G	R	Unclassified	A colorectal adenocarcinoma sample
P15056	BRAF_HUMAN	638	D	E	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	595	F	L	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	581	N	S	Unclassified	A colorectal adenocarcinoma sample
P15056	BRAF_HUMAN	462	R	I	Disease	Colorectal cancer (CRC) [MIM:114500]
P15056	BRAF_HUMAN	594	D	G	Disease	Familial non-Hodgkin lymphoma (NHL) [MIM:605027]
P15056	BRAF_HUMAN	600	V	D	Unclassified	A melanoma cell line
P15056	BRAF_HUMAN	601	K	E	Disease	Colorectal cancer (CRC) [MIM:114500]
P15056	BRAF_HUMAN	601	K	Q	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	262	Q	K	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	241	T	M	Polymorphism	-
P15056	BRAF_HUMAN	499	K	N	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	531	W	C	Disease	Noonan syndrome 7 (NS7) [MIM:613706]
P15056	BRAF_HUMAN	581	N	D	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	466	G	E	Unclassified	Melanoma
P15056	BRAF_HUMAN	246	A	P	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	709	Q	R	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	595	F	L	Unclassified	Colon cancer
P15056	BRAF_HUMAN	244	T	P	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	466	G	V	Disease	Lung cancer (LNCR) [MIM:211980]
P15056	BRAF_HUMAN	463	I	S	Disease	Colorectal cancer (CRC) [MIM:114500]
P15056	BRAF_HUMAN	525	L	P	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	464	G	V	Unclassified	A colorectal cancer cell line
P15056	BRAF_HUMAN	597	L	R	Disease	Lung cancer (LNCR) [MIM:211980]
P15056	BRAF_HUMAN	599	T	R	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	501	E	G	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	580	N	D	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	464	G	E	Disease	Colorectal cancer (CRC) [MIM:114500]
P15056	BRAF_HUMAN	245	L	F	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	596	G	V	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	241	T	P	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	467	S	A	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15056	BRAF_HUMAN	275	E	K	Disease	Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]
P15085	CBPA1_HUMAN	276	H	R	Polymorphism	-
P15085	CBPA1_HUMAN	208	A	T	Polymorphism	-
P15086	CBPB1_HUMAN	208	D	N	Polymorphism	-
P15088	CBPA3_HUMAN	81	A	S	Polymorphism	-
P15088	CBPA3_HUMAN	171	T	M	Polymorphism	-
P15090	FABP4_HUMAN	23	E	D	Unclassified	A breast cancer sample
P15104	GLNA_HUMAN	341	R	C	Disease	Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
P15104	GLNA_HUMAN	324	R	C	Disease	Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
P15121	ALDR_HUMAN	73	L	V	Polymorphism	-
P15121	ALDR_HUMAN	42	H	L	Polymorphism	-
P15121	ALDR_HUMAN	288	T	I	Polymorphism	-
P15121	ALDR_HUMAN	90	K	E	Polymorphism	-
P15121	ALDR_HUMAN	15	I	F	Polymorphism	-
P15121	ALDR_HUMAN	204	G	S	Polymorphism	-
P15144	AMPN_HUMAN	20	V	M	Polymorphism	-
P15144	AMPN_HUMAN	603	I	M	Polymorphism	-
P15144	AMPN_HUMAN	243	L	P	Polymorphism	-
P15144	AMPN_HUMAN	752	S	N	Polymorphism	-
P15144	AMPN_HUMAN	321	T	M	Polymorphism	-
P15144	AMPN_HUMAN	86	R	Q	Polymorphism	-
P15144	AMPN_HUMAN	311	A	V	Polymorphism	-
P15144	AMPN_HUMAN	242	D	Y	Polymorphism	-
P15144	AMPN_HUMAN	603	I	K	Polymorphism	-
P15151	PVR_HUMAN	67	A	T	Polymorphism	-
P15151	PVR_HUMAN	295	A	T	Polymorphism	-
P15151	PVR_HUMAN	340	I	M	Polymorphism	-
P15153	RAC2_HUMAN	29	P	L	Unclassified	A breast cancer sample
P15153	RAC2_HUMAN	57	D	N	Disease	Neutrophil immunodeficiency syndrome (NEUID) [MIM:608203]
P15169	CBPN_HUMAN	178	G	D	Disease	Carboxypeptidase N deficiency (CPND) [MIM:212070]
P15172	MYOD1_HUMAN	262	E	K	Unclassified	A breast cancer sample
P15172	MYOD1_HUMAN	309	A	V	Unclassified	A breast cancer sample
P15248	IL9_HUMAN	117	T	M	Polymorphism	-
P15259	PGAM2_HUMAN	90	R	W	Disease	Glycogen storage disease 10 (GSD10) [MIM:261670]
P15259	PGAM2_HUMAN	97	G	D	Disease	Glycogen storage disease 10 (GSD10) [MIM:261670]
P15259	PGAM2_HUMAN	89	E	A	Disease	Glycogen storage disease 10 (GSD10) [MIM:261670]
P15260	INGR1_HUMAN	63	V	G	Disease	Immunodeficiency 27A (IMD27A) [MIM:209950]
P15260	INGR1_HUMAN	85	C	Y	Disease	Immunodeficiency 27A (IMD27A) [MIM:209950]
P15260	INGR1_HUMAN	61	V	E	Disease	Immunodeficiency 27A (IMD27A) [MIM:209950]
P15260	INGR1_HUMAN	77	C	F	Disease	Immunodeficiency 27A (IMD27A) [MIM:209950]
P15260	INGR1_HUMAN	149	S	L	Polymorphism	-
P15260	INGR1_HUMAN	87	I	T	Disease	Immunodeficiency 27A (IMD27A) [MIM:209950]
P15260	INGR1_HUMAN	467	L	P	Polymorphism	-
P15260	INGR1_HUMAN	66	Y	C	Disease	Immunodeficiency 27A (IMD27A) [MIM:209950]
P15260	INGR1_HUMAN	61	V	I	Polymorphism	-
P15260	INGR1_HUMAN	14	V	M	Polymorphism	-
P15260	INGR1_HUMAN	485	S	F	Disease	Immunodeficiency 27A (IMD27A) [MIM:209950]
P15260	INGR1_HUMAN	180	G	R	Polymorphism	-
P15260	INGR1_HUMAN	37	I	T	Disease	Immunodeficiency 27A (IMD27A) [MIM:209950]
P15260	INGR1_HUMAN	352	I	M	Polymorphism	-
P15260	INGR1_HUMAN	77	C	Y	Disease	Immunodeficiency 27A (IMD27A) [MIM:209950]
P15260	INGR1_HUMAN	335	H	P	Polymorphism	-
P15260	INGR1_HUMAN	397	Y	C	Polymorphism	-
P15260	INGR1_HUMAN	219	G	R	Disease	Immunodeficiency 27A (IMD27A) [MIM:209950]
P15260	INGR1_HUMAN	197	E	K	Polymorphism	-
P15289	ARSA_HUMAN	406	S	G	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	307	E	K	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	138	H	D	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	96	S	L	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	408	T	I	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	376	Y	N	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	244	R	C	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	381	D	E	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	469	A	G	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	325	G	S	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	52	L	P	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	193	W	C	Polymorphism	-
P15289	ARSA_HUMAN	99	G	D	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	312	E	D	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	224	A	V	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	327	T	I	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	136	P	L	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	152	D	Y	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	409	T	I	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	428	L	P	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	429	Y	S	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	169	D	N	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	489	C	G	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	179	I	S	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	96	S	F	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	201	Y	C	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	212	A	V	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	119	G	R	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	231	P	T	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	153	Q	H	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	244	R	H	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	154	G	D	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	155	P	R	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	167	P	R	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	30	D	H	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	172	C	Y	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	68	L	P	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	84	R	W	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	426	P	L	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	464	A	V	Polymorphism	-
P15289	ARSA_HUMAN	136	P	S	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	122	G	S	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	135	L	P	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	356	F	V	Polymorphism	-
P15289	ARSA_HUMAN	440	N	S	Polymorphism	-
P15289	ARSA_HUMAN	18	A	D	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	29	D	N	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	190	Q	H	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	32	G	S	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	212	A	P	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	217	R	H	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	94	P	A	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	99	G	V	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	247	F	S	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	143	R	G	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	148	P	L	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	300	C	F	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	425	P	T	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	282	N	S	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	155	P	L	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	293	G	S	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	191	P	T	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	86	G	D	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	302	K	N	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	397	H	Y	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	306	Y	H	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	308	G	D	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	308	G	V	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	496	R	H	Polymorphism	-
P15289	ARSA_HUMAN	304	T	M	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	281	D	Y	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	314	A	T	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	286	T	P	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	288	R	H	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	156	C	R	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	181	L	Q	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	245	G	R	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	250	S	Y	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	219	F	V	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	227	H	Y	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	295	S	Y	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	309	G	S	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	311	R	Q	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	253	E	K	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	294	C	Y	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	255	D	H	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	335	D	V	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	293	G	D	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	390	R	W	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	84	R	Q	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	95	S	N	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	391	T	S	Polymorphism	-
P15289	ARSA_HUMAN	350	N	S	Polymorphism	-
P15289	ARSA_HUMAN	384	R	C	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	298	L	S	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	377	P	L	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	370	R	Q	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	76	L	P	Polymorphism	-
P15289	ARSA_HUMAN	82	P	L	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	370	R	W	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	274	T	M	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	288	R	C	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	382	E	K	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	367	K	N	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15289	ARSA_HUMAN	390	R	Q	Disease	Metachromatic leukodystrophy (MLD) [MIM:250100]
P15291	B4GT1_HUMAN	257	H	R	Polymorphism	-
P15291	B4GT1_HUMAN	21	R	W	Polymorphism	-
P15309	PPAP_HUMAN	360	V	A	Polymorphism	-
P15309	PPAP_HUMAN	330	Y	H	Polymorphism	-
P15309	PPAP_HUMAN	226	W	R	Polymorphism	-
P15309	PPAP_HUMAN	124	F	V	Polymorphism	-
P15309	PPAP_HUMAN	15	S	N	Polymorphism	-
P15311	EZRI_HUMAN	532	L	V	Polymorphism	-
P15311	EZRI_HUMAN	494	A	P	Polymorphism	-
P15311	EZRI_HUMAN	180	R	C	Polymorphism	-
P15313	VATB1_HUMAN	124	R	W	Disease	Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
P15313	VATB1_HUMAN	364	G	S	Disease	Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
P15313	VATB1_HUMAN	465	R	H	Polymorphism	-
P15313	VATB1_HUMAN	316	G	E	Disease	Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
P15313	VATB1_HUMAN	81	L	P	Disease	Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
P15313	VATB1_HUMAN	157	R	C	Disease	Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
P15313	VATB1_HUMAN	123	G	V	Disease	Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
P15313	VATB1_HUMAN	346	P	R	Disease	Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
P15313	VATB1_HUMAN	275	T	P	Disease	Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
P15313	VATB1_HUMAN	161	E	K	Polymorphism	-
P15313	VATB1_HUMAN	30	T	I	Polymorphism	-
P15313	VATB1_HUMAN	174	M	R	Disease	Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]
P15328	FOLR1_HUMAN	160	W	C	Polymorphism	-
P15328	FOLR1_HUMAN	28	W	R	Polymorphism	-
P15336	ATF2_HUMAN	352	D	H	Unclassified	A breast cancer sample
P15382	KCNE1_HUMAN	8	A	V	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	87	W	R	Disease	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	85	D	N	Polymorphism	-
P15382	KCNE1_HUMAN	76	D	N	Disease	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	74	S	L	Disease	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	59	L	P	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	76	D	N	Disease	Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347]
P15382	KCNE1_HUMAN	10	T	M	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	67	R	H	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	32	R	H	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	67	R	C	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	47	V	F	Disease	Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347]
P15382	KCNE1_HUMAN	109	V	I	Disease	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	58	T	P	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	98	R	W	Disease	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	38	S	G	Polymorphism	-
P15382	KCNE1_HUMAN	36	R	H	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	127	P	T	Disease	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	125	T	M	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	55	G	S	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	7	T	I	Disease	Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347]
P15382	KCNE1_HUMAN	83	E	K	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	53	F	S	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	28	S	L	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15382	KCNE1_HUMAN	51	L	H	Disease	Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347]
P15382	KCNE1_HUMAN	52	G	A	Polymorphism	-
P15382	KCNE1_HUMAN	70	K	M	Unclassified	Long QT syndrome 5 (LQT5) [MIM:613695]
P15391	CD19_HUMAN	514	R	H	Polymorphism	-
P15391	CD19_HUMAN	174	L	V	Polymorphism	-
P15421	GLPE_HUMAN	13	G	E	Polymorphism	-
P15421	GLPE_HUMAN	78	R	P	Polymorphism	-
P15428	PGDH_HUMAN	140	A	P	Disease	Cranioosteoarthropathy (COA) [MIM:259100]
P15428	PGDH_HUMAN	217	Y	C	Polymorphism	-
P15428	PGDH_HUMAN	193	S	P	Disease	Isolated congenital nail clubbing (ICNC) [MIM:119900]
P15498	VAV_HUMAN	739	T	M	Polymorphism	-
P15502	ELN_HUMAN	610	G	R	Polymorphism	-
P15502	ELN_HUMAN	422	G	S	Polymorphism	-
P15502	ELN_HUMAN	211	P	S	Unclassified	-
P15509	CSF2R_HUMAN	196	G	R	Disease	Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770]
P15514	AREG_HUMAN	81	Y	C	Polymorphism	-
P15514	AREG_HUMAN	80	D	V	Polymorphism	-
P15516	HIS3_HUMAN	41	R	Q	Polymorphism	-
P15529	MCP_HUMAN	324	P	L	Polymorphism	-
P15529	MCP_HUMAN	59	R	Q	Polymorphism	-
P15529	MCP_HUMAN	13	S	F	Polymorphism	-
P15529	MCP_HUMAN	355	V	G	Polymorphism	-
P15529	MCP_HUMAN	266	D	N	Polymorphism	-
P15529	MCP_HUMAN	353	A	V	Polymorphism	-
P15529	MCP_HUMAN	231	P	R	Disease	Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
P15529	MCP_HUMAN	228	C	Y	Unclassified	A colorectal cancer sample
P15529	MCP_HUMAN	165	P	S	Disease	Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
P15529	MCP_HUMAN	216	W	C	Disease	Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
P15529	MCP_HUMAN	240	S	P	Disease	Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
P15529	MCP_HUMAN	35	C	Y	Disease	Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
P15531	NDKA_HUMAN	120	S	G	Polymorphism	-
P15538	C11B1_HUMAN	10	C	Y	Polymorphism	-
P15538	C11B1_HUMAN	160	M	I	Polymorphism	-
P15538	C11B1_HUMAN	43	R	Q	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	281	S	N	Polymorphism	-
P15538	C11B1_HUMAN	319	T	M	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	133	N	H	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	318	T	M	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	404	R	H	Polymorphism	-
P15538	C11B1_HUMAN	299	L	P	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	448	R	H	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	374	R	Q	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	267	G	D	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	173	K	R	Polymorphism	-
P15538	C11B1_HUMAN	331	A	V	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	384	R	G	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	386	A	V	Polymorphism	-
P15538	C11B1_HUMAN	318	T	P	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	341	R	S	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	116	W	G	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	448	R	C	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	42	P	L	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	257	F	L	Polymorphism	-
P15538	C11B1_HUMAN	427	R	H	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	371	E	G	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	293	L	V	Polymorphism	-
P15538	C11B1_HUMAN	494	F	C	Polymorphism	-
P15538	C11B1_HUMAN	306	A	V	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	248	T	I	Polymorphism	-
P15538	C11B1_HUMAN	321	F	V	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	63	D	H	Polymorphism	-
P15538	C11B1_HUMAN	444	G	D	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	139	F	L	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	141	R	Q	Unclassified	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	379	G	V	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	348	A	T	Polymorphism	-
P15538	C11B1_HUMAN	158	L	P	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	150	S	L	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	42	P	S	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	439	Y	H	Polymorphism	-
P15538	C11B1_HUMAN	310	E	K	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	125	H	R	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	453	R	Q	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	332	R	G	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	88	M	I	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	332	R	Q	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	129	V	M	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	368	A	D	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	366	R	C	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	116	W	C	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	314	G	R	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	165	A	D	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	159	P	L	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	384	R	Q	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	454	R	C	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	94	P	L	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	441	V	G	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	135	P	S	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	489	L	S	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	83	L	S	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	401	T	A	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	318	T	R	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	196	T	A	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	79	F	I	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15538	C11B1_HUMAN	143	R	W	Disease	Adrenal hyperplasia 4 (AH4) [MIM:202010]
P15559	NQO1_HUMAN	187	P	S	Polymorphism	-
P15559	NQO1_HUMAN	139	R	W	Polymorphism	-
P15559	NQO1_HUMAN	269	Q	H	Polymorphism	-
P15586	GNS_HUMAN	340	K	R	Disease	Mucopolysaccharidosis 3D (MPS3D) [MIM:252940]
P15586	GNS_HUMAN	418	G	E	Disease	Mucopolysaccharidosis 3D (MPS3D) [MIM:252940]
P15586	GNS_HUMAN	94	S	I	Disease	Mucopolysaccharidosis 3D (MPS3D) [MIM:252940]
P15621	ZNF44_HUMAN	212	T	A	Polymorphism	-
P15621	ZNF44_HUMAN	92	G	A	Polymorphism	-
P15735	PHKG2_HUMAN	106	V	E	Disease	Glycogen storage disease 9C (GSD9C) [MIM:613027]
P15735	PHKG2_HUMAN	215	D	N	Disease	Glycogen storage disease 9C (GSD9C) [MIM:613027]
P15735	PHKG2_HUMAN	189	G	E	Disease	Glycogen storage disease 9C (GSD9C) [MIM:613027]
P15735	PHKG2_HUMAN	317	A	T	Polymorphism	-
P15735	PHKG2_HUMAN	157	E	K	Disease	Glycogen storage disease 9C (GSD9C) [MIM:613027]
P15735	PHKG2_HUMAN	247	E	G	Polymorphism	-
P15812	CD1E_HUMAN	106	Q	R	Polymorphism	-
P15812	CD1E_HUMAN	194	L	P	Polymorphism	-
P15812	CD1E_HUMAN	15	G	E	Polymorphism	-
P15812	CD1E_HUMAN	164	R	W	Polymorphism	-
P15812	CD1E_HUMAN	102	H	R	Polymorphism	-
P15812	CD1E_HUMAN	149	S	N	Polymorphism	-
P15813	CD1D_HUMAN	64	T	S	Polymorphism	-
P15814	IGLL1_HUMAN	142	P	L	Disease	Agammaglobulinemia 2, autosomal recessive (AGM2) [MIM:613500]
P15814	IGLL1_HUMAN	189	R	H	Polymorphism	-
P15822	ZEP1_HUMAN	1609	M	I	Polymorphism	-
P15822	ZEP1_HUMAN	187	T	M	Polymorphism	-
P15822	ZEP1_HUMAN	873	T	A	Polymorphism	-
P15822	ZEP1_HUMAN	1520	A	G	Polymorphism	-
P15822	ZEP1_HUMAN	828	V	I	Polymorphism	-
P15822	ZEP1_HUMAN	362	P	L	Polymorphism	-
P15822	ZEP1_HUMAN	1170	K	N	Polymorphism	-
P15822	ZEP1_HUMAN	2444	T	M	Polymorphism	-
P15822	ZEP1_HUMAN	2692	A	G	Polymorphism	-
P15822	ZEP1_HUMAN	1074	N	S	Polymorphism	-
P15822	ZEP1_HUMAN	1915	Q	R	Polymorphism	-
P15822	ZEP1_HUMAN	716	T	A	Polymorphism	-
P15848	ARSB_HUMAN	192	C	R	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	92	T	M	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	399	F	L	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	146	W	L	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	315	R	Q	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	146	W	R	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	302	G	R	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	210	Y	C	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	521	C	Y	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	146	W	S	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	376	V	M	Polymorphism	-
P15848	ARSB_HUMAN	405	C	Y	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	312	W	C	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	117	C	R	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	65	S	F	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	236	L	P	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	239	Q	R	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	160	R	Q	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	95	R	Q	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	82	L	R	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	137	G	V	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	152	R	W	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	531	P	R	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	321	L	P	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	484	R	G	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	116	P	H	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	384	S	N	Polymorphism	-
P15848	ARSB_HUMAN	498	L	P	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	142	M	I	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	358	V	L	Polymorphism	-
P15848	ARSB_HUMAN	393	H	P	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15848	ARSB_HUMAN	358	V	M	Polymorphism	-
P15848	ARSB_HUMAN	144	G	R	Disease	Mucopolysaccharidosis 6 (MPS6) [MIM:253200]
P15863	PAX1_HUMAN	439	T	R	Polymorphism	-
P15863	PAX1_HUMAN	166	G	V	Disease	Otofaciocervical syndrome 2 (OTFCS2) [MIM:615560]
P15863	PAX1_HUMAN	453	P	L	Polymorphism	-
P15863	PAX1_HUMAN	139	Q	H	Unclassified	-
P15863	PAX1_HUMAN	504	P	L	Polymorphism	-
P15882	CHIN_HUMAN	126	I	M	Disease	Duane retraction syndrome 2 (DURS2) [MIM:604356]
P15882	CHIN_HUMAN	223	A	V	Disease	Duane retraction syndrome 2 (DURS2) [MIM:604356]
P15882	CHIN_HUMAN	228	G	S	Disease	Duane retraction syndrome 2 (DURS2) [MIM:604356]
P15882	CHIN_HUMAN	252	P	Q	Disease	Duane retraction syndrome 2 (DURS2) [MIM:604356]
P15882	CHIN_HUMAN	143	Y	H	Disease	Duane retraction syndrome 2 (DURS2) [MIM:604356]
P15882	CHIN_HUMAN	313	E	K	Disease	Duane retraction syndrome 2 (DURS2) [MIM:604356]
P15882	CHIN_HUMAN	20	L	F	Disease	Duane retraction syndrome 2 (DURS2) [MIM:604356]
P15884	ITF2_HUMAN	572	R	G	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	572	R	Q	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	578	R	H	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	565	R	W	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	358	G	V	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	576	R	Q	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	610	A	V	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	450	M	I	Polymorphism	-
P15884	ITF2_HUMAN	535	D	G	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	574	R	P	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	574	R	H	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	578	R	P	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	576	R	W	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	583	A	P	Disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]
P15884	ITF2_HUMAN	29	P	T	Disease	-
P15918	RAG1_HUMAN	449	R	K	Polymorphism	-
P15918	RAG1_HUMAN	474	R	H	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	855	N	I	Disease	-
P15918	RAG1_HUMAN	358	C	Y	Unclassified	-
P15918	RAG1_HUMAN	169	S	L	Polymorphism	-
P15918	RAG1_HUMAN	669	E	G	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	887	D	N	Polymorphism	-
P15918	RAG1_HUMAN	410	R	Q	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	454	L	Q	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	474	R	C	Disease	-
P15918	RAG1_HUMAN	559	R	S	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
P15918	RAG1_HUMAN	559	R	S	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	433	V	M	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	444	A	V	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	699	R	W	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	981	Q	P	Disease	Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889]
P15918	RAG1_HUMAN	433	V	M	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
P15918	RAG1_HUMAN	375	H	D	Unclassified	-
P15918	RAG1_HUMAN	612	H	R	Unclassified	-
P15918	RAG1_HUMAN	435	M	V	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	975	R	W	Disease	Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
P15918	RAG1_HUMAN	561	R	C	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	156	A	V	Polymorphism	-
P15918	RAG1_HUMAN	722	E	K	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
P15918	RAG1_HUMAN	522	W	C	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	507	R	W	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	247	R	H	Polymorphism	-
P15918	RAG1_HUMAN	778	R	Q	Disease	Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
P15918	RAG1_HUMAN	507	R	W	Disease	Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
P15918	RAG1_HUMAN	975	R	Q	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	525	P	S	Polymorphism	-
P15918	RAG1_HUMAN	841	R	W	Disease	Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889]
P15918	RAG1_HUMAN	401	S	P	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	885	L	R	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	624	R	C	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	328	C	Y	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	753	H	L	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	244	R	G	Polymorphism	-
P15918	RAG1_HUMAN	820	K	R	Polymorphism	-
P15918	RAG1_HUMAN	737	R	H	Disease	Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
P15918	RAG1_HUMAN	396	R	H	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	249	H	R	Polymorphism	-
P15918	RAG1_HUMAN	302	D	E	Polymorphism	-
P15918	RAG1_HUMAN	429	D	G	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	396	R	C	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	314	R	W	Disease	Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
P15918	RAG1_HUMAN	880	E	K	Polymorphism	-
P15918	RAG1_HUMAN	561	R	H	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	624	R	H	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
P15918	RAG1_HUMAN	737	R	H	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	912	Y	C	Disease	Omenn syndrome (OS) [MIM:603554]
P15918	RAG1_HUMAN	396	R	L	Disease	Omenn syndrome (OS) [MIM:603554]
P15923	TFE2_HUMAN	120	L	P	Polymorphism	-
P15923	TFE2_HUMAN	8	A	V	Unclassified	A colorectal cancer sample
P15923	TFE2_HUMAN	198	T	A	Polymorphism	-
P15923	TFE2_HUMAN	431	G	S	Polymorphism	-
P15924	DESP_HUMAN	2375	G	R	Polymorphism	-
P15924	DESP_HUMAN	445	I	V	Disease	Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]
P15924	DESP_HUMAN	1526	N	K	Polymorphism	-
P15924	DESP_HUMAN	1505	A	V	Polymorphism	-
P15924	DESP_HUMAN	1833	E	V	Polymorphism	-
P15924	DESP_HUMAN	287	N	K	Disease	Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]
P15924	DESP_HUMAN	1537	R	C	Polymorphism	-
P15924	DESP_HUMAN	564	T	I	Disease	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) [MIM:615821]
P15924	DESP_HUMAN	597	S	L	Disease	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) [MIM:615821]
P15924	DESP_HUMAN	1255	R	K	Disease	Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]
P15924	DESP_HUMAN	299	S	R	Unclassified	Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]
P15924	DESP_HUMAN	305	I	F	Polymorphism	-
P15924	DESP_HUMAN	2366	R	C	Disease	Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]
P15924	DESP_HUMAN	1738	R	Q	Polymorphism	-
P15924	DESP_HUMAN	1775	R	I	Unclassified	Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]
P15924	DESP_HUMAN	1512	Y	C	Polymorphism	-
P15927	RFA2_HUMAN	15	G	R	Polymorphism	-
P15927	RFA2_HUMAN	14	Y	S	Polymorphism	-
P15927	RFA2_HUMAN	203	N	S	Polymorphism	-
P15941	MUC1_HUMAN	1117	V	M	Polymorphism	-
P15941	MUC1_HUMAN	1142	S	N	Polymorphism	-
P15976	GATA1_HUMAN	216	R	Q	Disease	Thrombocytopenia with beta-thalassemia, X-linked (XLTT) [MIM:314050]
P15976	GATA1_HUMAN	208	G	S	Disease	X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
P15976	GATA1_HUMAN	205	V	M	Disease	X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
P15976	GATA1_HUMAN	218	D	Y	Disease	X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
P15976	GATA1_HUMAN	218	D	G	Disease	X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
P16050	LOX15_HUMAN	461	A	P	Polymorphism	-
P16050	LOX15_HUMAN	90	D	H	Polymorphism	-
P16050	LOX15_HUMAN	239	V	M	Polymorphism	-
P16050	LOX15_HUMAN	102	G	V	Polymorphism	-
P16050	LOX15_HUMAN	560	T	M	Polymorphism	-
P16050	LOX15_HUMAN	103	N	K	Polymorphism	-
P16050	LOX15_HUMAN	205	R	Q	Polymorphism	-
P16066	ANPRA_HUMAN	939	R	Q	Polymorphism	-
P16066	ANPRA_HUMAN	967	E	K	Polymorphism	-
P16066	ANPRA_HUMAN	270	F	C	Unclassified	A breast pleomorphic lobular carcinoma sample
P16066	ANPRA_HUMAN	755	V	M	Polymorphism	-
P16066	ANPRA_HUMAN	182	A	V	Polymorphism	-
P16070	CD44_HUMAN	46	R	P	Polymorphism	-
P16070	CD44_HUMAN	494	D	H	Polymorphism	-
P16070	CD44_HUMAN	393	T	M	Polymorphism	-
P16070	CD44_HUMAN	417	K	R	Polymorphism	-
P16070	CD44_HUMAN	479	I	T	Polymorphism	-
P16083	NQO2_HUMAN	184	V	A	Polymorphism	-
P16083	NQO2_HUMAN	29	E	G	Polymorphism	-
P16083	NQO2_HUMAN	16	K	R	Polymorphism	-
P16083	NQO2_HUMAN	58	G	D	Polymorphism	-
P16083	NQO2_HUMAN	47	L	F	Polymorphism	-
P16109	LYAM3_HUMAN	301	P	L	Polymorphism	-
P16109	LYAM3_HUMAN	661	T	N	Polymorphism	-
P16109	LYAM3_HUMAN	756	T	P	Polymorphism	-
P16109	LYAM3_HUMAN	365	M	V	Polymorphism	-
P16109	LYAM3_HUMAN	385	S	L	Polymorphism	-
P16109	LYAM3_HUMAN	209	V	M	Polymorphism	-
P16109	LYAM3_HUMAN	673	N	S	Polymorphism	-
P16109	LYAM3_HUMAN	631	G	V	Polymorphism	-
P16109	LYAM3_HUMAN	640	L	V	Polymorphism	-
P16109	LYAM3_HUMAN	500	S	F	Polymorphism	-
P16109	LYAM3_HUMAN	603	D	N	Polymorphism	-
P16109	LYAM3_HUMAN	542	E	K	Polymorphism	-
P16109	LYAM3_HUMAN	331	S	N	Polymorphism	-
P16109	LYAM3_HUMAN	619	S	A	Polymorphism	-
P16109	LYAM3_HUMAN	179	G	R	Polymorphism	-
P16109	LYAM3_HUMAN	230	C	F	Polymorphism	-
P16109	LYAM3_HUMAN	274	T	I	Polymorphism	-
P16112	PGCA_HUMAN	2120	S	R	Polymorphism	-
P16112	PGCA_HUMAN	913	P	T	Polymorphism	-
P16112	PGCA_HUMAN	930	S	I	Polymorphism	-
P16112	PGCA_HUMAN	102	D	E	Polymorphism	-
P16112	PGCA_HUMAN	1080	T	A	Polymorphism	-
P16112	PGCA_HUMAN	864	P	L	Polymorphism	-
P16112	PGCA_HUMAN	2418	V	M	Disease	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) [MIM:165800]
P16112	PGCA_HUMAN	275	R	Q	Polymorphism	-
P16112	PGCA_HUMAN	2381	D	N	Disease	Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG) [MIM:612813]
P16112	PGCA_HUMAN	2058	P	L	Polymorphism	-
P16112	PGCA_HUMAN	2373	D	E	Polymorphism	-
P16112	PGCA_HUMAN	2079	I	V	Polymorphism	-
P16112	PGCA_HUMAN	1508	E	A	Polymorphism	-
P16112	PGCA_HUMAN	939	S	T	Polymorphism	-
P16112	PGCA_HUMAN	2500	Q	R	Polymorphism	-
P16112	PGCA_HUMAN	1403	T	A	Polymorphism	-
P16112	PGCA_HUMAN	1765	I	V	Polymorphism	-
P16144	ITB4_HUMAN	844	R	L	Polymorphism	-
P16144	ITB4_HUMAN	336	L	P	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	283	R	C	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	1764	T	S	Polymorphism	-
P16144	ITB4_HUMAN	931	G	D	Disease	Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
P16144	ITB4_HUMAN	478	Q	H	Polymorphism	-
P16144	ITB4_HUMAN	38	C	R	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	245	C	G	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	98	R	H	Polymorphism	-
P16144	ITB4_HUMAN	273	G	D	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	131	D	Y	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	1216	H	Q	Polymorphism	-
P16144	ITB4_HUMAN	252	R	C	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	1779	L	P	Polymorphism	-
P16144	ITB4_HUMAN	1281	R	W	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	61	C	Y	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	325	V	D	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	562	C	R	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	1225	R	H	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16144	ITB4_HUMAN	156	L	P	Disease	Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]
P16150	LEUK_HUMAN	22	T	I	Polymorphism	-
P16150	LEUK_HUMAN	93	T	A	Polymorphism	-
P16152	CBR1_HUMAN	131	P	S	Polymorphism	-
P16152	CBR1_HUMAN	88	V	I	Polymorphism	-
P16157	ANK1_HUMAN	619	R	H	Polymorphism	-
P16157	ANK1_HUMAN	1126	A	P	Polymorphism	-
P16157	ANK1_HUMAN	463	V	I	Disease	Spherocytosis 1 (SPH1) [MIM:182900]
P16157	ANK1_HUMAN	1592	D	N	Polymorphism	-
P16157	ANK1_HUMAN	332	D	H	Unclassified	A breast cancer sample
P16157	ANK1_HUMAN	1075	T	I	Polymorphism	-
P16157	ANK1_HUMAN	1286	E	D	Polymorphism	-
P16157	ANK1_HUMAN	845	D	E	Polymorphism	-
P16157	ANK1_HUMAN	991	V	L	Polymorphism	-
P16157	ANK1_HUMAN	1392	S	T	Polymorphism	-
P16157	ANK1_HUMAN	1325	M	V	Polymorphism	-
P16157	ANK1_HUMAN	832	R	Q	Polymorphism	-
P16157	ANK1_HUMAN	276	L	R	Disease	Spherocytosis 1 (SPH1) [MIM:182900]
P16157	ANK1_HUMAN	21	R	T	Polymorphism	-
P16157	ANK1_HUMAN	1192	T	P	Polymorphism	-
P16157	ANK1_HUMAN	1546	V	I	Polymorphism	-
P16157	ANK1_HUMAN	750	V	A	Polymorphism	-
P16157	ANK1_HUMAN	1054	I	T	Disease	Spherocytosis 1 (SPH1) [MIM:182900]
P16157	ANK1_HUMAN	733	L	I	Polymorphism	-
P16188	1A30_HUMAN	80	R	G	Polymorphism	-
P16188	1A30_HUMAN	121	I	M	Polymorphism	-
P16188	1A30_HUMAN	176	W	R	Polymorphism	-
P16188	1A30_HUMAN	21	H	Q	Polymorphism	-
P16188	1A30_HUMAN	166	I	T	Polymorphism	-
P16188	1A30_HUMAN	180	L	W	Polymorphism	-
P16188	1A30_HUMAN	205	R	H	Polymorphism	-
P16188	1A30_HUMAN	33	S	Y	Polymorphism	-
P16188	1A30_HUMAN	151	N	K	Polymorphism	-
P16188	1A30_HUMAN	131	G	W	Polymorphism	-
P16188	1A30_HUMAN	89	R	G	Polymorphism	-
P16188	1A30_HUMAN	129	S	P	Polymorphism	-
P16188	1A30_HUMAN	94	Q	H	Polymorphism	-
P16188	1A30_HUMAN	55	T	A	Polymorphism	-
P16188	1A30_HUMAN	86	Q	E	Polymorphism	-
P16188	1A30_HUMAN	133	F	L	Polymorphism	-
P16188	1A30_HUMAN	101	D	N	Polymorphism	-
P16189	1A31_HUMAN	205	R	H	Polymorphism	-
P16189	1A31_HUMAN	114	A	D	Polymorphism	-
P16189	1A31_HUMAN	138	Q	R	Polymorphism	-
P16189	1A31_HUMAN	121	M	I	Polymorphism	-
P16189	1A31_HUMAN	151	N	K	Polymorphism	-
P16189	1A31_HUMAN	166	I	T	Polymorphism	-
P16189	1A31_HUMAN	90	N	K	Polymorphism	-
P16190	1A33_HUMAN	41	R	S	Polymorphism	-
P16190	1A33_HUMAN	195	H	Y	Polymorphism	-
P16190	1A33_HUMAN	358	M	V	Polymorphism	-
P16190	1A33_HUMAN	151	N	K	Polymorphism	-
P16190	1A33_HUMAN	166	I	T	Polymorphism	-
P16219	ACADS_HUMAN	90	G	S	Disease	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
P16219	ACADS_HUMAN	192	A	V	Disease	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
P16219	ACADS_HUMAN	380	R	W	Disease	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
P16219	ACADS_HUMAN	325	R	W	Disease	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
P16219	ACADS_HUMAN	209	G	S	Polymorphism	-
P16219	ACADS_HUMAN	171	R	W	Polymorphism	-
P16219	ACADS_HUMAN	92	G	C	Disease	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
P16219	ACADS_HUMAN	353	S	L	Disease	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
P16219	ACADS_HUMAN	46	R	W	Disease	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
P16219	ACADS_HUMAN	383	R	C	Disease	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
P16219	ACADS_HUMAN	383	R	H	Polymorphism	-
P16219	ACADS_HUMAN	177	W	R	Disease	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
P16219	ACADS_HUMAN	107	R	C	Disease	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
P16220	CREB1_HUMAN	116	D	G	Polymorphism	-
P16233	LIPP_HUMAN	221	T	M	Disease	Pancreatic lipase deficiency (PNLIPD) [MIM:614338]
P16234	PGFRA_HUMAN	570	H	R	Unclassified	-
P16234	PGFRA_HUMAN	705	L	P	Unclassified	-
P16234	PGFRA_HUMAN	481	R	G	Unclassified	-
P16234	PGFRA_HUMAN	562	I	M	Unclassified	-
P16234	PGFRA_HUMAN	849	Y	C	Disease	Gastrointestinal stromal tumor (GIST) [MIM:606764]
P16234	PGFRA_HUMAN	764	R	C	Polymorphism	-
P16234	PGFRA_HUMAN	659	N	S	Unclassified	-
P16234	PGFRA_HUMAN	849	Y	S	Unclassified	-
P16234	PGFRA_HUMAN	507	L	P	Unclassified	-
P16234	PGFRA_HUMAN	650	H	Q	Unclassified	-
P16234	PGFRA_HUMAN	842	D	V	Polymorphism	-
P16234	PGFRA_HUMAN	829	G	R	Unclassified	A glioblastoma multiforme sample
P16234	PGFRA_HUMAN	842	D	Y	Polymorphism	-
P16234	PGFRA_HUMAN	996	E	K	Unclassified	A metastatic melanoma sample
P16234	PGFRA_HUMAN	79	G	D	Polymorphism	-
P16234	PGFRA_HUMAN	561	V	D	Polymorphism	-
P16234	PGFRA_HUMAN	1071	D	N	Unclassified	A lung neuroendocrine carcinoma sample
P16234	PGFRA_HUMAN	659	N	K	Polymorphism	-
P16234	PGFRA_HUMAN	426	G	D	Polymorphism	-
P16234	PGFRA_HUMAN	748	R	G	Unclassified	-
P16234	PGFRA_HUMAN	478	S	P	Polymorphism	-
P16278	BGAL_HUMAN	136	P	S	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	482	R	C	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	240	V	M	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	264	L	S	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	332	D	E	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	457	R	Q	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	199	Y	C	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	329	T	I	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	83	Y	C	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	255	Q	H	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	155	L	R	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	68	R	Q	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	318	N	H	Unclassified	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	482	R	H	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	549	P	L	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	281	H	Y	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	554	G	E	Unclassified	-
P16278	BGAL_HUMAN	190	G	D	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	123	G	R	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	434	S	L	Polymorphism	-
P16278	BGAL_HUMAN	239	T	M	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	494	G	C	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	73	K	E	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	484	N	K	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	408	Q	P	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	201	R	C	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	482	R	H	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	414	G	V	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	514	L	P	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	600	T	I	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	132	M	T	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	49	R	H	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	272	G	D	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	173	L	P	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	184	Q	R	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	438	G	E	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	579	G	D	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	273	W	L	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	316	Y	C	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	491	D	N	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	49	R	C	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	51	I	T	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	162	L	S	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	266	N	S	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	494	G	S	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	148	R	C	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	151	D	V	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	148	R	C	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	590	R	C	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	109	R	W	Polymorphism	-
P16278	BGAL_HUMAN	10	P	L	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	590	R	H	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	509	W	C	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	201	R	H	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	201	R	H	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	493	K	N	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	578	K	R	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	198	D	Y	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	397	P	A	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	441	D	N	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	347	Y	C	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	597	P	S	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	82	T	M	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	491	D	Y	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	59	R	H	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	49	R	C	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	216	V	A	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	148	R	S	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	632	E	G	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	236	L	P	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	68	R	W	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	420	T	K	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	134	G	V	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	263	P	S	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	208	R	C	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	129	E	Q	Polymorphism	-
P16278	BGAL_HUMAN	595	R	W	Polymorphism	-
P16278	BGAL_HUMAN	438	G	E	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	346	K	N	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	333	Y	H	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	83	Y	H	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	201	R	C	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	297	L	F	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	337	L	P	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	444	Y	C	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	442	R	Q	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	420	T	P	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	149	S	F	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	281	H	Y	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	262	G	E	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	500	T	A	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278	BGAL_HUMAN	579	G	D	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	151	D	Y	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	591	Y	C	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	591	Y	N	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	331	Y	C	Unclassified	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	521	R	C	Unclassified	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	422	L	R	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	337	L	P	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	134	G	R	Unclassified	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	314	F	L	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	436	L	F	Polymorphism	-
P16278	BGAL_HUMAN	155	L	R	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	332	D	N	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	68	R	W	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	214	D	Y	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278	BGAL_HUMAN	121	R	S	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	597	P	L	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278	BGAL_HUMAN	532	S	G	Polymorphism	-
P16278	BGAL_HUMAN	59	R	C	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278	BGAL_HUMAN	270	Y	D	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16284	PECA1_HUMAN	563	S	N	Polymorphism	-
P16284	PECA1_HUMAN	563	S	I	Polymorphism	-
P16284	PECA1_HUMAN	670	R	G	Polymorphism	-
P16284	PECA1_HUMAN	125	V	L	Polymorphism	-
P16284	PECA1_HUMAN	304	C	Y	Polymorphism	-
P16333	NCK1_HUMAN	180	A	V	Polymorphism	-
P16383	GCFC2_HUMAN	724	E	D	Polymorphism	-
P16383	GCFC2_HUMAN	32	P	A	Polymorphism	-
P16383	GCFC2_HUMAN	594	T	A	Polymorphism	-
P16383	GCFC2_HUMAN	249	N	S	Polymorphism	-
P16383	GCFC2_HUMAN	316	Q	E	Polymorphism	-
P16389	KCNA2_HUMAN	263	I	T	Disease	Epileptic encephalopathy, early infantile, 32 (EIEE32) [MIM:616366]
P16389	KCNA2_HUMAN	297	R	Q	Disease	Epileptic encephalopathy, early infantile, 32 (EIEE32) [MIM:616366]
P16389	KCNA2_HUMAN	324	S	T	Disease	-
P16389	KCNA2_HUMAN	405	P	L	Disease	Epileptic encephalopathy, early infantile, 32 (EIEE32) [MIM:616366]
P16389	KCNA2_HUMAN	298	L	F	Disease	Epileptic encephalopathy, early infantile, 32 (EIEE32) [MIM:616366]
P16401	H15_HUMAN	211	A	T	Polymorphism	-
P16401	H15_HUMAN	86	G	D	Unclassified	A colorectal cancer sample
P16401	H15_HUMAN	144	K	R	Polymorphism	-
P16402	H13_HUMAN	75	E	K	Polymorphism	-
P16403	H12_HUMAN	18	A	V	Polymorphism	-
P16403	H12_HUMAN	113	S	A	Polymorphism	-
P16403	H12_HUMAN	124	G	A	Polymorphism	-
P16410	CTLA4_HUMAN	17	T	A	Polymorphism	-
P16410	CTLA4_HUMAN	70	R	W	Disease	Autoimmune lymphoproliferative syndrome 5 (ALPS5) [MIM:616100]
P16415	ZN823_HUMAN	566	R	H	Polymorphism	-
P16422	EPCAM_HUMAN	66	C	Y	Disease	Diarrhea 5, with tufting enteropathy, congenital (DIAR5) [MIM:613217]
P16422	EPCAM_HUMAN	115	M	T	Polymorphism	-
P16435	NCPR_HUMAN	454	R	H	Disease	Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]
P16435	NCPR_HUMAN	252	D	N	Polymorphism	-
P16435	NCPR_HUMAN	454	R	H	Disease	Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]
P16435	NCPR_HUMAN	566	C	Y	Disease	Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]
P16435	NCPR_HUMAN	178	Y	D	Disease	Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]
P16435	NCPR_HUMAN	225	P	L	Polymorphism	-
P16435	NCPR_HUMAN	575	Y	C	Disease	Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]
P16435	NCPR_HUMAN	284	A	P	Disease	Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]
P16435	NCPR_HUMAN	605	V	F	Disease	Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]
P16435	NCPR_HUMAN	500	A	V	Polymorphism	-
P16435	NCPR_HUMAN	284	A	P	Disease	Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]
P16435	NCPR_HUMAN	489	V	E	Disease	Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]
P16435	NCPR_HUMAN	551	R	Q	Polymorphism	-
P16442	BGAT_HUMAN	161	R	H	Polymorphism	-
P16442	BGAT_HUMAN	74	P	S	Polymorphism	-
P16442	BGAT_HUMAN	35	G	R	Polymorphism	-
P16442	BGAT_HUMAN	156	P	L	Polymorphism	-
P16442	BGAT_HUMAN	235	G	S	Polymorphism	-
P16442	BGAT_HUMAN	266	L	M	Polymorphism	-
P16442	BGAT_HUMAN	234	P	A	Polymorphism	-
P16442	BGAT_HUMAN	214	M	R	Polymorphism	-
P16442	BGAT_HUMAN	223	E	D	Polymorphism	-
P16442	BGAT_HUMAN	257	P	L	Polymorphism	-
P16442	BGAT_HUMAN	216	F	I	Polymorphism	-
P16442	BGAT_HUMAN	268	G	A	Polymorphism	-
P16442	BGAT_HUMAN	199	R	C	Polymorphism	-
P16442	BGAT_HUMAN	352	R	G	Polymorphism	-
P16442	BGAT_HUMAN	288	M	R	Polymorphism	-
P16442	BGAT_HUMAN	198	R	W	Polymorphism	-
P16442	BGAT_HUMAN	176	R	G	Polymorphism	-
P16442	BGAT_HUMAN	163	T	M	Polymorphism	-
P16442	BGAT_HUMAN	277	V	M	Polymorphism	-
P16442	BGAT_HUMAN	346	K	M	Polymorphism	-
P16442	BGAT_HUMAN	230	G	R	Unclassified	-
P16442	BGAT_HUMAN	268	G	R	Polymorphism	-
P16442	BGAT_HUMAN	352	R	W	Polymorphism	-
P16442	BGAT_HUMAN	36	V	F	Polymorphism	-
P16442	BGAT_HUMAN	63	R	H	Polymorphism	-
P16442	BGAT_HUMAN	291	D	N	Polymorphism	-
P16444	DPEP1_HUMAN	246	R	H	Unclassified	A colorectal cancer sample
P16444	DPEP1_HUMAN	351	E	K	Polymorphism	-
P16444	DPEP1_HUMAN	351	E	Q	Polymorphism	-
P16452	EPB42_HUMAN	280	R	Q	Disease	Spherocytosis 5 (SPH5) [MIM:612690]
P16452	EPB42_HUMAN	145	D	Y	Disease	Spherocytosis 5 (SPH5) [MIM:612690]
P16452	EPB42_HUMAN	287	R	C	Disease	Spherocytosis 5 (SPH5) [MIM:612690]
P16452	EPB42_HUMAN	112	A	T	Disease	Spherocytosis 5 (SPH5) [MIM:612690]
P16455	MGMT_HUMAN	53	L	F	Polymorphism	-
P16455	MGMT_HUMAN	58	P	S	Polymorphism	-
P16455	MGMT_HUMAN	160	G	R	Polymorphism	-
P16455	MGMT_HUMAN	178	K	R	Polymorphism	-
P16455	MGMT_HUMAN	143	I	V	Polymorphism	-
P16455	MGMT_HUMAN	84	L	F	Polymorphism	-
P16455	MGMT_HUMAN	166	E	D	Polymorphism	-
P16455	MGMT_HUMAN	112	I	V	Polymorphism	-
P16455	MGMT_HUMAN	30	E	K	Polymorphism	-
P16455	MGMT_HUMAN	65	W	C	Polymorphism	-
P16471	PRLR_HUMAN	170	I	L	Disease	Multiple fibroadenomas of the breast (MFAB) [MIM:615554]
P16471	PRLR_HUMAN	100	I	V	Polymorphism	-
P16471	PRLR_HUMAN	212	H	R	Disease	Hyperprolactinemia (HPRL) [MIM:615555]
P16473	TSHR_HUMAN	281	S	I	Unclassified	-
P16473	TSHR_HUMAN	505	S	N	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	512	L	R	Unclassified	-
P16473	TSHR_HUMAN	639	P	S	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	568	I	T	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	623	A	I	Unclassified	-
P16473	TSHR_HUMAN	252	L	P	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	633	D	Y	Unclassified	-
P16473	TSHR_HUMAN	281	S	T	Unclassified	-
P16473	TSHR_HUMAN	633	D	E	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	219	D	E	Unclassified	Papillary cancer
P16473	TSHR_HUMAN	597	V	L	Unclassified	-
P16473	TSHR_HUMAN	715	N	D	Unclassified	Papillary cancer
P16473	TSHR_HUMAN	623	A	V	Unclassified	-
P16473	TSHR_HUMAN	670	N	S	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	431	G	S	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	600	C	R	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	525	F	L	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	630	I	L	Unclassified	-
P16473	TSHR_HUMAN	650	N	Y	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	449	P	L	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	197	F	I	Unclassified	Papillary cancer
P16473	TSHR_HUMAN	52	P	T	Polymorphism	-
P16473	TSHR_HUMAN	477	T	I	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	720	Q	E	Polymorphism	-
P16473	TSHR_HUMAN	727	D	E	Polymorphism	-
P16473	TSHR_HUMAN	432	N	D	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	633	D	H	Polymorphism	-
P16473	TSHR_HUMAN	183	K	R	Disease	Familial gestational hyperthyroidism (HTFG) [MIM:603373]
P16473	TSHR_HUMAN	36	D	H	Polymorphism	-
P16473	TSHR_HUMAN	528	R	H	Polymorphism	-
P16473	TSHR_HUMAN	672	C	Y	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	467	L	P	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	619	D	G	Unclassified	-
P16473	TSHR_HUMAN	703	A	G	Polymorphism	-
P16473	TSHR_HUMAN	629	L	F	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	647	A	V	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	631	F	L	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	109	R	Q	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	512	L	Q	Unclassified	-
P16473	TSHR_HUMAN	34	E	K	Polymorphism	-
P16473	TSHR_HUMAN	425	S	I	Unclassified	-
P16473	TSHR_HUMAN	463	M	V	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	723	K	M	Unclassified	Papillary cancer
P16473	TSHR_HUMAN	486	I	M	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	677	L	V	Unclassified	Thyroid carcinoma
P16473	TSHR_HUMAN	553	A	T	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	631	F	C	Unclassified	-
P16473	TSHR_HUMAN	593	A	N	Unclassified	-
P16473	TSHR_HUMAN	167	I	N	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	656	V	F	Unclassified	-
P16473	TSHR_HUMAN	410	D	N	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	41	C	S	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	505	S	R	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	606	I	M	Polymorphism	-
P16473	TSHR_HUMAN	633	D	A	Unclassified	-
P16473	TSHR_HUMAN	509	V	A	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	162	P	A	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	281	S	N	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	486	I	F	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	453	M	T	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	450	R	H	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	597	V	F	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	390	C	W	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	498	G	S	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	632	T	A	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16473	TSHR_HUMAN	639	P	A	Unclassified	-
P16473	TSHR_HUMAN	310	R	C	Disease	Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]
P16473	TSHR_HUMAN	632	T	I	Disease	Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]
P16499	PDE6A_HUMAN	573	S	P	Disease	Retinitis pigmentosa 43 (RP43) [MIM:613810]
P16499	PDE6A_HUMAN	102	R	S	Disease	Retinitis pigmentosa 43 (RP43) [MIM:613810]
P16499	PDE6A_HUMAN	569	Q	K	Disease	Retinitis pigmentosa 43 (RP43) [MIM:613810]
P16499	PDE6A_HUMAN	827	K	Q	Polymorphism	-
P16499	PDE6A_HUMAN	492	Q	H	Polymorphism	-
P16499	PDE6A_HUMAN	216	N	S	Polymorphism	-
P16499	PDE6A_HUMAN	145	A	T	Polymorphism	-
P16499	PDE6A_HUMAN	850	G	V	Polymorphism	-
P16499	PDE6A_HUMAN	102	R	H	Disease	Retinitis pigmentosa 43 (RP43) [MIM:613810]
P16499	PDE6A_HUMAN	277	V	A	Polymorphism	-
P16499	PDE6A_HUMAN	293	P	L	Polymorphism	-
P16499	PDE6A_HUMAN	344	S	R	Disease	Retinitis pigmentosa 43 (RP43) [MIM:613810]
P16499	PDE6A_HUMAN	391	V	M	Polymorphism	-
P16519	NEC2_HUMAN	424	D	N	Unclassified	A colorectal cancer sample
P16519	NEC2_HUMAN	484	K	E	Polymorphism	-
P16519	NEC2_HUMAN	267	A	T	Polymorphism	-
P16519	NEC2_HUMAN	430	R	W	Polymorphism	-
P16519	NEC2_HUMAN	77	A	D	Polymorphism	-
P16519	NEC2_HUMAN	525	M	V	Polymorphism	-
P16519	NEC2_HUMAN	244	P	Q	Polymorphism	-
P16520	GBB3_HUMAN	324	G	E	Polymorphism	-
P16520	GBB3_HUMAN	40	V	M	Polymorphism	-
P16520	GBB3_HUMAN	339	W	L	Polymorphism	-
P16520	GBB3_HUMAN	272	G	S	Polymorphism	-
P16520	GBB3_HUMAN	67	S	F	Unclassified	Night blindness, congenital stationary, 1H (CSNB1H) [MIM:617024]
P16520	GBB3_HUMAN	76	D	N	Polymorphism	-
P16520	GBB3_HUMAN	81	V	M	Polymorphism	-
P16520	GBB3_HUMAN	280	L	F	Polymorphism	-
P16562	CRIS2_HUMAN	131	N	S	Polymorphism	-
P16581	LYAM2_HUMAN	545	P	L	Polymorphism	-
P16581	LYAM2_HUMAN	21	A	S	Polymorphism	-
P16581	LYAM2_HUMAN	468	H	Y	Polymorphism	-
P16581	LYAM2_HUMAN	130	C	W	Polymorphism	-
P16581	LYAM2_HUMAN	149	S	R	Polymorphism	-
P16581	LYAM2_HUMAN	550	P	S	Polymorphism	-
P16581	LYAM2_HUMAN	421	E	Q	Polymorphism	-
P16581	LYAM2_HUMAN	31	M	I	Polymorphism	-
P16581	LYAM2_HUMAN	575	L	F	Polymorphism	-
P16581	LYAM2_HUMAN	257	Q	P	Polymorphism	-
P16581	LYAM2_HUMAN	295	E	K	Polymorphism	-
P16591	FER_HUMAN	813	E	Q	Polymorphism	-
P16591	FER_HUMAN	412	M	V	Polymorphism	-
P16591	FER_HUMAN	128	V	F	Polymorphism	-
P16591	FER_HUMAN	443	A	P	Polymorphism	-
P16591	FER_HUMAN	439	L	V	Polymorphism	-
P16591	FER_HUMAN	460	W	C	Unclassified	A lung small cell carcinoma sample
P16591	FER_HUMAN	404	E	Q	Unclassified	An ovarian Endometrioid carcinoma sample
P16591	FER_HUMAN	507	I	T	Polymorphism	-
P16615	AT2A2_HUMAN	765	S	L	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	702	D	N	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	875	C	G	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	160	P	L	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	767	N	S	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	843	V	F	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	186	S	P	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	211	G	D	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	23	G	E	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	39	N	T	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	691	Q	P	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	803	A	T	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	310	G	V	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	412	E	G	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	131	R	Q	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	672	A	P	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	975	P	R	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	590	L	P	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	900	L	P	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	838	A	P	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	745	A	D	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	223	V	M	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	65	L	S	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	943	H	R	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	357	T	K	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	769	G	R	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	495	S	F	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	348	I	T	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	750	R	W	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	675	F	S	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	602	P	L	Disease	Acrokeratosis verruciformis (AKV) [MIM:101900]
P16615	AT2A2_HUMAN	625	G	A	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	765	S	W	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	268	C	F	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	683	K	E	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	920	S	Y	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	626	D	E	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	101	N	S	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	560	C	R	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	318	C	R	Disease	Darier disease (DD) [MIM:124200]
P16615	AT2A2_HUMAN	749	G	R	Disease	Darier disease (DD) [MIM:124200]
P16662	UD2B7_HUMAN	268	Y	H	Polymorphism	-
P16662	UD2B7_HUMAN	378	N	S	Polymorphism	-
P16662	UD2B7_HUMAN	71	A	S	Polymorphism	-
P16671	CD36_HUMAN	174	T	A	Polymorphism	-
P16671	CD36_HUMAN	123	E	K	Polymorphism	-
P16671	CD36_HUMAN	127	S	L	Polymorphism	-
P16671	CD36_HUMAN	271	I	T	Polymorphism	-
P16671	CD36_HUMAN	154	V	F	Polymorphism	-
P16671	CD36_HUMAN	90	P	S	Disease	Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]
P16671	CD36_HUMAN	470	T	I	Polymorphism	-
P16671	CD36_HUMAN	254	F	L	Disease	Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]
P16671	CD36_HUMAN	413	I	L	Disease	Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]
P16671	CD36_HUMAN	386	R	W	Polymorphism	-
P16860	ANFB_HUMAN	93	M	L	Polymorphism	-
P16860	ANFB_HUMAN	47	R	H	Polymorphism	-
P16860	ANFB_HUMAN	25	R	L	Polymorphism	-
P16870	CBPE_HUMAN	297	R	Q	Unclassified	A colorectal cancer sample
P16870	CBPE_HUMAN	235	W	R	Polymorphism	-
P16871	IL7RA_HUMAN	356	I	V	Polymorphism	-
P16871	IL7RA_HUMAN	138	V	I	Polymorphism	-
P16871	IL7RA_HUMAN	113	E	D	Polymorphism	-
P16871	IL7RA_HUMAN	414	T	M	Polymorphism	-
P16871	IL7RA_HUMAN	66	I	T	Polymorphism	-
P16871	IL7RA_HUMAN	132	P	S	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID) [MIM:608971]
P16871	IL7RA_HUMAN	244	T	I	Polymorphism	-
P16885	PLCG2_HUMAN	541	T	A	Polymorphism	-
P16885	PLCG2_HUMAN	665	R	W	Unclassified	-
P16885	PLCG2_HUMAN	244	H	R	Polymorphism	-
P16885	PLCG2_HUMAN	707	S	Y	Disease	Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878]
P16885	PLCG2_HUMAN	883	D	Y	Polymorphism	-
P16885	PLCG2_HUMAN	845	L	F	Unclassified	-
P16885	PLCG2_HUMAN	268	R	W	Polymorphism	-
P16930	FAAA_HUMAN	249	P	T	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	294	T	P	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	134	A	D	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	405	F	H	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	369	G	V	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	233	D	V	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	279	Q	R	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	35	A	T	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	158	G	D	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	341	R	W	Polymorphism	-
P16930	FAAA_HUMAN	16	N	I	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	381	R	G	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	64	Q	H	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	207	G	D	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	337	G	S	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	166	V	G	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	62	F	C	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	193	C	R	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	261	P	L	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	234	W	G	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16930	FAAA_HUMAN	342	P	L	Disease	Tyrosinemia 1 (TYRSN1) [MIM:276700]
P16989	YBOX3_HUMAN	75	T	A	Polymorphism	-
P17017	ZNF14_HUMAN	274	T	S	Polymorphism	-
P17017	ZNF14_HUMAN	379	R	Q	Polymorphism	-
P17019	ZN708_HUMAN	58	K	T	Polymorphism	-
P17019	ZN708_HUMAN	49	K	E	Polymorphism	-
P17019	ZN708_HUMAN	66	R	Q	Polymorphism	-
P17019	ZN708_HUMAN	7	A	V	Polymorphism	-
P17020	ZNF16_HUMAN	227	R	H	Polymorphism	-
P17020	ZNF16_HUMAN	105	E	K	Polymorphism	-
P17021	ZNF17_HUMAN	148	T	K	Polymorphism	-
P17022	ZNF18_HUMAN	240	M	I	Polymorphism	-
P17022	ZNF18_HUMAN	210	Q	R	Polymorphism	-
P17023	ZNF19_HUMAN	218	Q	H	Polymorphism	-
P17023	ZNF19_HUMAN	224	R	Q	Polymorphism	-
P17025	ZN182_HUMAN	62	N	S	Unclassified	-
P17026	ZNF22_HUMAN	129	H	L	Unclassified	A breast cancer sample
P17026	ZNF22_HUMAN	65	S	G	Polymorphism	-
P17027	ZNF23_HUMAN	28	S	G	Polymorphism	-
P17028	ZNF24_HUMAN	220	N	S	Polymorphism	-
P17028	ZNF24_HUMAN	331	G	W	Polymorphism	-
P17029	ZKSC1_HUMAN	26	V	A	Polymorphism	-
P17030	ZNF25_HUMAN	453	N	K	Polymorphism	-
P17030	ZNF25_HUMAN	81	D	G	Unclassified	A breast cancer sample
P17030	ZNF25_HUMAN	21	E	K	Unclassified	A breast cancer sample
P17032	ZN37A_HUMAN	105	D	N	Polymorphism	-
P17035	ZNF28_HUMAN	524	M	T	Polymorphism	-
P17035	ZNF28_HUMAN	465	K	Q	Polymorphism	-
P17035	ZNF28_HUMAN	179	R	G	Polymorphism	-
P17036	ZNF3_HUMAN	102	I	T	Polymorphism	-
P17038	ZNF43_HUMAN	718	S	P	Polymorphism	-
P17038	ZNF43_HUMAN	244	R	C	Unclassified	A colorectal cancer sample
P17039	ZNF30_HUMAN	123	Q	R	Polymorphism	-
P17039	ZNF30_HUMAN	379	R	K	Polymorphism	-
P17039	ZNF30_HUMAN	400	Y	C	Polymorphism	-
P17039	ZNF30_HUMAN	190	A	T	Polymorphism	-
P17040	ZSC20_HUMAN	248	D	N	Polymorphism	-
P17040	ZSC20_HUMAN	432	Y	D	Polymorphism	-
P17050	NAGAB_HUMAN	329	R	W	Disease	Kanzaki disease (KANZD) [MIM:609242]
P17050	NAGAB_HUMAN	160	S	C	Disease	Schindler disease (SCHIND) [MIM:609241]
P17050	NAGAB_HUMAN	325	E	K	Disease	Schindler disease (SCHIND) [MIM:609241]
P17050	NAGAB_HUMAN	329	R	Q	Disease	Kanzaki disease (KANZD) [MIM:609242]
P17066	HSP76_HUMAN	198	L	F	Polymorphism	-
P17066	HSP76_HUMAN	297	T	K	Polymorphism	-
P17066	HSP76_HUMAN	572	M	V	Polymorphism	-
P17066	HSP76_HUMAN	65	P	T	Polymorphism	-
P17066	HSP76_HUMAN	154	D	N	Polymorphism	-
P17066	HSP76_HUMAN	577	R	Q	Polymorphism	-
P17066	HSP76_HUMAN	336	V	F	Polymorphism	-
P17066	HSP76_HUMAN	626	T	A	Polymorphism	-
P17066	HSP76_HUMAN	464	S	I	Polymorphism	-
P17066	HSP76_HUMAN	159	A	V	Polymorphism	-
P17066	HSP76_HUMAN	528	K	E	Polymorphism	-
P17066	HSP76_HUMAN	150	A	T	Polymorphism	-
P17066	HSP76_HUMAN	170	N	K	Polymorphism	-
P17066	HSP76_HUMAN	528	K	R	Polymorphism	-
P17066	HSP76_HUMAN	562	D	E	Polymorphism	-
P17066	HSP76_HUMAN	178	P	A	Polymorphism	-
P17066	HSP76_HUMAN	194	E	K	Polymorphism	-
P17066	HSP76_HUMAN	95	R	Q	Polymorphism	-
P17066	HSP76_HUMAN	471	R	H	Polymorphism	-
P17066	HSP76_HUMAN	260	R	H	Polymorphism	-
P17066	HSP76_HUMAN	173	R	P	Polymorphism	-
P17066	HSP76_HUMAN	153	N	S	Polymorphism	-
P17097	ZNF7_HUMAN	596	L	F	Polymorphism	-
P17097	ZNF7_HUMAN	188	G	R	Polymorphism	-
P17097	ZNF7_HUMAN	347	S	L	Polymorphism	-
P17181	INAR1_HUMAN	307	V	I	Polymorphism	-
P17181	INAR1_HUMAN	168	V	L	Polymorphism	-
P17181	INAR1_HUMAN	359	T	M	Polymorphism	-
P17213	BPI_HUMAN	280	A	V	Polymorphism	-
P17213	BPI_HUMAN	404	N	D	Polymorphism	-
P17213	BPI_HUMAN	216	E	K	Polymorphism	-
P17213	BPI_HUMAN	377	V	I	Polymorphism	-
P17213	BPI_HUMAN	451	K	E	Polymorphism	-
P17213	BPI_HUMAN	16	A	V	Polymorphism	-
P17213	BPI_HUMAN	90	R	C	Polymorphism	-
P17213	BPI_HUMAN	12	A	T	Polymorphism	-
P17213	BPI_HUMAN	140	E	Q	Polymorphism	-
P17213	BPI_HUMAN	12	A	V	Polymorphism	-
P17213	BPI_HUMAN	196	A	V	Polymorphism	-
P17252	KPCA_HUMAN	98	P	S	Unclassified	A colorectal adenocarcinoma sample
P17252	KPCA_HUMAN	467	D	N	Unclassified	A glioblastoma multiforme sample
P17252	KPCA_HUMAN	568	V	I	Polymorphism	-
P17252	KPCA_HUMAN	489	M	V	Polymorphism	-
P17275	JUNB_HUMAN	230	L	V	Polymorphism	-
P17301	ITA2_HUMAN	534	K	E	Polymorphism	-
P17301	ITA2_HUMAN	532	I	L	Polymorphism	-
P17301	ITA2_HUMAN	927	N	S	Polymorphism	-
P17301	ITA2_HUMAN	691	N	K	Polymorphism	-
P17301	ITA2_HUMAN	1127	K	Q	Polymorphism	-
P17302	CXA1_HUMAN	216	V	L	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	362	R	Q	Unclassified	Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550]
P17302	CXA1_HUMAN	376	R	Q	Unclassified	Atrioventricular septal defect 3 (AVSD3) [MIM:600309]
P17302	CXA1_HUMAN	134	K	N	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	47	D	H	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	326	T	A	Polymorphism	-
P17302	CXA1_HUMAN	106	L	R	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	8	G	V	Disease	Palmoplantar keratoderma and congenital alopecia 1 (PPKCA1) [MIM:104100]
P17302	CXA1_HUMAN	143	G	S	Disease	Syndactyly 3 (SDTY3) [MIM:186100]
P17302	CXA1_HUMAN	86	S	Y	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	227	E	D	Disease	Erythrokeratodermia variabilis et progressiva 3 (EKVP3) [MIM:617525]
P17302	CXA1_HUMAN	96	V	E	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	22	G	E	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	110	E	D	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	44	A	V	Disease	Erythrokeratodermia variabilis et progressiva 3 (EKVP3) [MIM:617525]
P17302	CXA1_HUMAN	253	A	V	Polymorphism	-
P17302	CXA1_HUMAN	96	V	M	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	31	I	M	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	11	L	P	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	96	V	A	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	202	R	H	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	41	V	L	Unclassified	-
P17302	CXA1_HUMAN	27	S	P	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	362	R	Q	Unclassified	Atrioventricular septal defect 3 (AVSD3) [MIM:600309]
P17302	CXA1_HUMAN	2	G	V	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	113	L	P	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	154	T	A	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	376	R	Q	Unclassified	Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550]
P17302	CXA1_HUMAN	69	S	Y	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	134	K	E	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	95	H	R	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	147	M	T	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	352	E	G	Unclassified	-
P17302	CXA1_HUMAN	239	R	Q	Disease	Craniometaphyseal dysplasia, autosomal recessive (CMDR) [MIM:218400]
P17302	CXA1_HUMAN	11	L	I	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	206	K	R	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	59	P	H	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	154	T	N	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	194	H	P	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	251	S	T	Unclassified	-
P17302	CXA1_HUMAN	17	Y	S	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	283	P	L	Unclassified	-
P17302	CXA1_HUMAN	106	L	P	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	201	S	F	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	7	L	V	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	76	R	H	Disease	Hallermann-Streiff syndrome (HSS) [MIM:234100]
P17302	CXA1_HUMAN	40	A	V	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	102	K	N	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	130	I	T	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	18	S	P	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	220	S	Y	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	168	A	T	Polymorphism	-
P17302	CXA1_HUMAN	373	S	G	Polymorphism	-
P17302	CXA1_HUMAN	290	T	N	Unclassified	-
P17302	CXA1_HUMAN	365	S	N	Unclassified	-
P17302	CXA1_HUMAN	49	Q	P	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	253	A	P	Unclassified	-
P17302	CXA1_HUMAN	364	S	P	Unclassified	-
P17302	CXA1_HUMAN	138	G	R	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	49	Q	K	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	98	Y	C	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	76	R	S	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	21	G	R	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	23	K	T	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	239	R	W	Unclassified	-
P17302	CXA1_HUMAN	90	L	V	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302	CXA1_HUMAN	148	R	Q	Disease	Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17405	ASM_HUMAN	488	T	A	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	565	D	Y	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	476	R	Q	Unclassified	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	381	S	P	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	599	L	F	Unclassified	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	490	Y	N	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	516	H	Q	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	454	A	V	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	498	R	C	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	437	W	C	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	387	C	R	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	492	G	S	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	496	G	S	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	452	L	P	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	415	A	V	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	517	E	V	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	605	S	G	Polymorphism	-
P17405	ASM_HUMAN	258	T	I	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	535	W	R	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	598	Q	R	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	519	Y	C	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	51	D	V	Unclassified	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	247	G	D	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	434	L	P	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	539	Y	H	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	476	R	W	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	507	S	G	Polymorphism	-
P17405	ASM_HUMAN	324	T	I	Polymorphism	-
P17405	ASM_HUMAN	572	F	L	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	227	L	M	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	465	F	S	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	477	P	L	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	469	Y	S	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	248	E	Q	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	423	H	R	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	577	H	D	Unclassified	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	253	D	H	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	458	G	D	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	228	C	R	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	551	L	P	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	426	G	S	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	230	R	C	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	247	G	S	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	578	K	N	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	508	G	R	Polymorphism	-
P17405	ASM_HUMAN	498	R	H	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	482	F	L	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	484	A	E	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	433	C	R	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	423	H	Y	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	535	W	R	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	244	G	R	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	227	L	P	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	320	N	D	Unclassified	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	105	L	P	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	494	N	I	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	602	R	H	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	602	R	H	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	36	V	A	Polymorphism	-
P17405	ASM_HUMAN	487	A	V	Polymorphism	-
P17405	ASM_HUMAN	378	R	L	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	453	A	D	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	520	I	L	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	549	N	K	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	384	M	I	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	294	Q	K	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	314	V	M	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	296	R	Q	Polymorphism	-
P17405	ASM_HUMAN	234	G	D	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	304	L	P	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	602	R	P	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	477	P	L	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	318	V	E	Polymorphism	-
P17405	ASM_HUMAN	378	R	H	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	359	A	D	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	250	S	R	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	522	N	S	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	448	Y	C	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	282	P	F	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	324	T	P	Unclassified	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	343	L	R	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	211	W	R	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	230	R	H	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	246	W	C	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	198	A	P	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	105	L	P	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	168	G	R	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	369	Y	C	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	525	Q	H	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	427	H	R	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	132	V	A	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	319	G	R	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	343	L	P	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	393	W	G	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	510	S	F	Polymorphism	-
P17405	ASM_HUMAN	315	Y	H	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	283	A	T	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	178	I	N	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	216	L	R	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	243	A	V	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	139	L	P	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	163	L	P	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	94	C	W	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	579	G	S	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	91	C	H	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	610	R	C	Unclassified	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	255	P	S	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	230	R	C	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	391	N	T	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	248	E	K	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	321	H	Y	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	498	R	L	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	247	G	S	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	280	D	A	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	391	N	H	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	385	N	S	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	384	M	I	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	186	P	L	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	325	P	A	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	393	W	R	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	253	D	E	Disease	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	159	C	R	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	202	R	C	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	373	P	S	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	250	S	R	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	291	R	H	Unclassified	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	332	P	R	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17405	ASM_HUMAN	363	L	R	Unclassified	Niemann-Pick disease A (NPDA) [MIM:257200]
P17405	ASM_HUMAN	438	S	R	Disease	Niemann-Pick disease B (NPDB) [MIM:607616]
P17480	UBF1_HUMAN	210	E	K	Disease	Neurodegeneration, childhood-onset, with brain atrophy (CONDBA) [MIM:617672]
P17516	AK1C4_HUMAN	311	L	V	Polymorphism	-
P17516	AK1C4_HUMAN	135	G	E	Polymorphism	-
P17516	AK1C4_HUMAN	145	S	C	Polymorphism	-
P17516	AK1C4_HUMAN	170	C	Y	Polymorphism	-
P17516	AK1C4_HUMAN	250	Q	R	Polymorphism	-
P17535	JUND_HUMAN	20	G	V	Polymorphism	-
P17538	CTRB1_HUMAN	250	T	A	Polymorphism	-
P17538	CTRB1_HUMAN	222	D	H	Polymorphism	-
P17568	NDUB7_HUMAN	106	R	G	Polymorphism	-
P17612	KAPCA_HUMAN	264	S	C	Polymorphism	-
P17612	KAPCA_HUMAN	46	R	Q	Polymorphism	-
P17612	KAPCA_HUMAN	41	L	V	Polymorphism	-
P17612	KAPCA_HUMAN	206	L	R	Disease	Primary pigmented nodular adrenocortical disease 4 (PPNAD4) [MIM:615830]
P17643	TYRP1_HUMAN	356	R	Q	Disease	Albinism, oculocutaneous, 3 (OCA3) [MIM:203290]
P17643	TYRP1_HUMAN	24	A	T	Disease	Albinism, oculocutaneous, 3 (OCA3) [MIM:203290]
P17643	TYRP1_HUMAN	93	R	C	Polymorphism	-
P17643	TYRP1_HUMAN	326	R	H	Polymorphism	-
P17655	CAN2_HUMAN	521	E	Q	Polymorphism	-
P17655	CAN2_HUMAN	568	K	Q	Polymorphism	-
P17655	CAN2_HUMAN	476	K	R	Polymorphism	-
P17655	CAN2_HUMAN	22	D	E	Polymorphism	-
P17655	CAN2_HUMAN	677	K	Q	Polymorphism	-
P17655	CAN2_HUMAN	68	S	G	Polymorphism	-
P17661	DESM_HUMAN	393	N	I	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	16	R	C	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	419	P	S	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	337	A	P	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	350	R	P	Disease	Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]
P17661	DESM_HUMAN	213	A	V	Polymorphism	-
P17661	DESM_HUMAN	116	N	S	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	345	L	P	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	406	R	W	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	460	S	I	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	136	L	P	Disease	Cardiomyopathy, dilated 1I (CMD1I) [MIM:604765]
P17661	DESM_HUMAN	442	T	I	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	449	K	M	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	401	E	K	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	453	T	I	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	46	S	F	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	241	K	E	Polymorphism	-
P17661	DESM_HUMAN	385	L	P	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	245	E	D	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	454	R	W	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	120	A	D	Disease	Cardiomyopathy, dilated 1I (CMD1I) [MIM:604765]
P17661	DESM_HUMAN	357	A	P	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	399	D	Y	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	326	H	R	Polymorphism	-
P17661	DESM_HUMAN	2	S	I	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	370	L	P	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	338	L	R	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	360	A	P	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	46	S	Y	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	13	S	F	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	342	N	D	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	449	K	T	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	350	R	P	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	7	S	F	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	355	R	P	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	389	Q	P	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	451	I	M	Disease	Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661	DESM_HUMAN	451	I	M	Disease	Cardiomyopathy, dilated 1I (CMD1I) [MIM:604765]
P17676	CEBPB_HUMAN	195	G	S	Polymorphism	-
P17677	NEUM_HUMAN	59	V	I	Polymorphism	-
P17677	NEUM_HUMAN	162	K	E	Polymorphism	-
P17735	ATTY_HUMAN	70	N	D	Polymorphism	-
P17735	ATTY_HUMAN	362	G	V	Disease	Tyrosinemia 2 (TYRSN2) [MIM:276600]
P17787	ACHB2_HUMAN	397	Q	H	Polymorphism	-
P17787	ACHB2_HUMAN	287	V	L	Disease	Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375]
P17787	ACHB2_HUMAN	287	V	M	Disease	Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375]
P17812	PYRG1_HUMAN	571	S	I	Polymorphism	-
P17813	EGLN_HUMAN	366	D	H	Polymorphism	-
P17813	EGLN_HUMAN	52	G	V	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	236	V	M	Unclassified	-
P17813	EGLN_HUMAN	160	A	D	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	5	T	M	Polymorphism	-
P17813	EGLN_HUMAN	105	V	D	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	8	L	P	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	394	C	Y	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	263	I	T	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	53	C	R	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	306	L	P	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	549	C	Y	Unclassified	-
P17813	EGLN_HUMAN	221	L	P	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	220	I	T	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	221	L	Q	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	175	A	E	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	149	W	C	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	412	C	S	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	615	S	L	Polymorphism	-
P17813	EGLN_HUMAN	603	G	R	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	604	A	D	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	413	G	V	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	308	A	D	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	11	A	D	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	263	I	S	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	374	K	E	Unclassified	-
P17813	EGLN_HUMAN	529	R	H	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	437	R	W	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	545	G	S	Polymorphism	-
P17813	EGLN_HUMAN	107	L	R	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	529	R	P	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	561	D	A	Polymorphism	-
P17813	EGLN_HUMAN	49	V	F	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	315	V	M	Unclassified	-
P17813	EGLN_HUMAN	490	L	S	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	238	V	E	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	414	M	R	Unclassified	-
P17813	EGLN_HUMAN	150	A	P	Unclassified	-
P17813	EGLN_HUMAN	504	V	M	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	545	G	D	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	205	R	P	Polymorphism	-
P17813	EGLN_HUMAN	363	C	S	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	547	L	P	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813	EGLN_HUMAN	269	M	R	Disease	Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17844	DDX5_HUMAN	480	S	A	Polymorphism	-
P17858	PFKAL_HUMAN	81	G	A	Polymorphism	-
P17858	PFKAL_HUMAN	151	R	W	Polymorphism	-
P17858	PFKAL_HUMAN	237	D	V	Polymorphism	-
P17861	XBP1_HUMAN	232	R	K	Unclassified	A breast cancer sample
P17861	XBP1_HUMAN	12	D	V	Unclassified	A breast cancer sample
P17900	SAP3_HUMAN	69	M	V	Polymorphism	-
P17900	SAP3_HUMAN	59	I	V	Polymorphism	-
P17900	SAP3_HUMAN	19	A	T	Polymorphism	-
P17900	SAP3_HUMAN	169	R	P	Disease	GM2-gangliosidosis AB (GM2GAB) [MIM:272750]
P17900	SAP3_HUMAN	138	C	R	Disease	GM2-gangliosidosis AB (GM2GAB) [MIM:272750]
P17927	CR1_HUMAN	1408	T	I	Polymorphism	-
P17927	CR1_HUMAN	1850	H	D	Polymorphism	-
P17927	CR1_HUMAN	1590	K	E	Polymorphism	-
P17927	CR1_HUMAN	1969	T	A	Polymorphism	-
P17927	CR1_HUMAN	1408	T	M	Polymorphism	-
P17927	CR1_HUMAN	1610	S	T	Polymorphism	-
P17927	CR1_HUMAN	1540	N	S	Polymorphism	-
P17927	CR1_HUMAN	1615	I	V	Polymorphism	-
P17927	CR1_HUMAN	1208	H	R	Polymorphism	-
P17927	CR1_HUMAN	1827	P	R	Polymorphism	-
P17927	CR1_HUMAN	1601	R	G	Polymorphism	-
P17931	LEG3_HUMAN	64	P	H	Polymorphism	-
P17931	LEG3_HUMAN	183	R	K	Polymorphism	-
P17931	LEG3_HUMAN	98	T	P	Polymorphism	-
P17936	IBP3_HUMAN	7	T	M	Unclassified	A colorectal cancer sample
P17936	IBP3_HUMAN	32	A	G	Polymorphism	-
P17936	IBP3_HUMAN	252	R	C	Unclassified	A colorectal cancer sample
P17936	IBP3_HUMAN	158	H	P	Polymorphism	-
P17936	IBP3_HUMAN	56	A	T	Polymorphism	-
P17936	IBP3_HUMAN	234	G	S	Polymorphism	-
P17948	VGFR1_HUMAN	781	R	Q	Unclassified	A glioma low grade oligodendroglioma sample
P17948	VGFR1_HUMAN	128	I	L	Polymorphism	-
P17948	VGFR1_HUMAN	281	R	Q	Polymorphism	-
P17948	VGFR1_HUMAN	1061	L	V	Unclassified	A bladder transitional cell carcinoma sample
P17948	VGFR1_HUMAN	60	K	T	Polymorphism	-
P17948	VGFR1_HUMAN	938	M	V	Polymorphism	-
P17948	VGFR1_HUMAN	982	E	A	Polymorphism	-
P17948	VGFR1_HUMAN	422	L	I	Unclassified	A lung adenocarcinoma sample
P17948	VGFR1_HUMAN	144	E	K	Polymorphism	-
P17987	TCPA_HUMAN	7	V	L	Unclassified	A breast cancer sample
P18031	PTN1_HUMAN	387	P	L	Polymorphism	-
P18031	PTN1_HUMAN	381	G	S	Polymorphism	-
P18054	LOX12_HUMAN	298	A	T	Polymorphism	-
P18054	LOX12_HUMAN	261	Q	R	Polymorphism	-
P18054	LOX12_HUMAN	322	N	S	Polymorphism	-
P18054	LOX12_HUMAN	430	R	H	Polymorphism	-
P18054	LOX12_HUMAN	259	E	K	Polymorphism	-
P18065	IBP2_HUMAN	137	A	D	Polymorphism	-
P18074	ERCC2_HUMAN	616	R	W	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	234	D	N	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	616	R	C	Polymorphism	-
P18074	ERCC2_HUMAN	751	K	Q	Polymorphism	-
P18074	ERCC2_HUMAN	487	R	G	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	485	L	P	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	199	I	M	Polymorphism	-
P18074	ERCC2_HUMAN	616	R	P	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	725	A	P	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	675	G	R	Unclassified	-
P18074	ERCC2_HUMAN	592	R	P	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	601	R	L	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	461	L	V	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	461	L	V	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	658	R	C	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	594	A	P	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	673	D	G	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	722	R	W	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	76	T	A	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	658	R	H	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	683	R	Q	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	602	G	D	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	312	D	N	Polymorphism	-
P18074	ERCC2_HUMAN	681	D	N	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	681	D	N	Disease	Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756]
P18074	ERCC2_HUMAN	616	R	W	Disease	Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756]
P18074	ERCC2_HUMAN	511	R	Q	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	259	C	Y	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	616	R	P	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	601	R	W	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	666	R	W	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	112	R	H	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	112	R	H	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	201	H	Y	Polymorphism	-
P18074	ERCC2_HUMAN	542	Y	C	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	663	C	R	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	658	R	G	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	47	G	R	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	683	R	W	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074	ERCC2_HUMAN	713	G	R	Disease	Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675]
P18074	ERCC2_HUMAN	541	S	R	Disease	Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18075	BMP7_HUMAN	198	L	P	Polymorphism	-
P18075	BMP7_HUMAN	321	N	S	Polymorphism	-
P18077	RL35A_HUMAN	33	V	I	Disease	Diamond-Blackfan anemia 5 (DBA5) [MIM:612528]
P18084	ITB5_HUMAN	431	R	Q	Polymorphism	-
P18084	ITB5_HUMAN	428	L	V	Polymorphism	-
P18084	ITB5_HUMAN	477	N	S	Polymorphism	-
P18085	ARF4_HUMAN	68	V	A	Polymorphism	-
P18089	ADA2B_HUMAN	211	G	A	Polymorphism	-
P18089	ADA2B_HUMAN	379	V	G	Polymorphism	-
P18089	ADA2B_HUMAN	376	V	I	Polymorphism	-
P18089	ADA2B_HUMAN	379	V	I	Polymorphism	-
P18146	EGR1_HUMAN	219	E	D	Polymorphism	-
P18146	EGR1_HUMAN	144	N	K	Polymorphism	-
P18146	EGR1_HUMAN	145	S	R	Polymorphism	-
P18146	EGR1_HUMAN	28	T	I	Polymorphism	-
P18206	VINC_HUMAN	277	L	M	Disease	Cardiomyopathy, familial hypertrophic 15 (CMH15) [MIM:613255]
P18206	VINC_HUMAN	943	P	A	Polymorphism	-
P18206	VINC_HUMAN	234	V	L	Polymorphism	-
P18206	VINC_HUMAN	934	A	V	Polymorphism	-
P18206	VINC_HUMAN	975	R	W	Disease	Cardiomyopathy, dilated 1W (CMD1W) [MIM:611407]
P18283	GPX2_HUMAN	176	I	M	Polymorphism	-
P18283	GPX2_HUMAN	37	A	L	Unclassified	-
P18283	GPX2_HUMAN	126	P	L	Polymorphism	-
P18283	GPX2_HUMAN	146	R	C	Polymorphism	-
P18428	LBP_HUMAN	339	L	F	Polymorphism	-
P18428	LBP_HUMAN	333	P	L	Polymorphism	-
P18428	LBP_HUMAN	436	F	L	Polymorphism	-
P18428	LBP_HUMAN	283	D	G	Polymorphism	-
P18428	LBP_HUMAN	364	I	T	Polymorphism	-
P18428	LBP_HUMAN	9	P	L	Polymorphism	-
P18428	LBP_HUMAN	445	A	T	Polymorphism	-
P18428	LBP_HUMAN	125	L	I	Polymorphism	-
P18428	LBP_HUMAN	111	R	Q	Polymorphism	-
P18428	LBP_HUMAN	166	V	M	Polymorphism	-
P18428	LBP_HUMAN	294	H	R	Polymorphism	-
P18428	LBP_HUMAN	242	M	I	Polymorphism	-
P18428	LBP_HUMAN	147	E	K	Polymorphism	-
P18428	LBP_HUMAN	157	S	C	Polymorphism	-
P18433	PTPRA_HUMAN	109	P	L	Polymorphism	-
P18440	ARY1_HUMAN	263	I	V	Polymorphism	-
P18440	ARY1_HUMAN	187	R	Q	Polymorphism	-
P18440	ARY1_HUMAN	117	R	T	Polymorphism	-
P18440	ARY1_HUMAN	205	M	V	Polymorphism	-
P18440	ARY1_HUMAN	64	R	W	Polymorphism	-
P18440	ARY1_HUMAN	207	T	I	Polymorphism	-
P18440	ARY1_HUMAN	251	D	V	Polymorphism	-
P18440	ARY1_HUMAN	261	E	K	Polymorphism	-
P18440	ARY1_HUMAN	149	V	I	Polymorphism	-
P18440	ARY1_HUMAN	214	S	A	Polymorphism	-
P18462	1A25_HUMAN	166	I	T	Polymorphism	-
P18462	1A25_HUMAN	94	H	Q	Polymorphism	-
P18462	1A25_HUMAN	33	Y	F	Polymorphism	-
P18462	1A25_HUMAN	151	N	K	Polymorphism	-
P18463	1B37_HUMAN	35	S	A	Polymorphism	-
P18463	1B37_HUMAN	48	S	P	Polymorphism	-
P18463	1B37_HUMAN	104	T	N	Polymorphism	-
P18463	1B37_HUMAN	48	S	T	Polymorphism	-
P18463	1B37_HUMAN	48	S	A	Polymorphism	-
P18463	1B37_HUMAN	195	Y	H	Polymorphism	-
P18463	1B37_HUMAN	65	A	T	Polymorphism	-
P18463	1B37_HUMAN	36	V	M	Polymorphism	-
P18464	1B51_HUMAN	176	E	V	Polymorphism	-
P18464	1B51_HUMAN	155	S	R	Polymorphism	-
P18464	1B51_HUMAN	195	H	Y	Polymorphism	-
P18464	1B51_HUMAN	180	L	D	Polymorphism	-
P18464	1B51_HUMAN	191	W	G	Polymorphism	-
P18465	1B57_HUMAN	121	V	R	Polymorphism	-
P18465	1B57_HUMAN	329	A	T	Polymorphism	-
P18465	1B57_HUMAN	140	S	Y	Polymorphism	-
P18465	1B57_HUMAN	137	H	Y	Polymorphism	-
P18465	1B57_HUMAN	127	V	L	Polymorphism	-
P18465	1B57_HUMAN	349	C	S	Polymorphism	-
P18465	1B57_HUMAN	138	D	N	Polymorphism	-
P18465	1B57_HUMAN	180	L	R	Polymorphism	-
P18465	1B57_HUMAN	349	C	Y	Polymorphism	-
P18465	1B57_HUMAN	306	V	I	Polymorphism	-
P18505	GBRB1_HUMAN	421	H	Q	Polymorphism	-
P18505	GBRB1_HUMAN	246	F	S	Disease	Epileptic encephalopathy, early infantile, 45 (EIEE45) [MIM:617153]
P18505	GBRB1_HUMAN	429	I	N	Polymorphism	-
P18505	GBRB1_HUMAN	287	T	I	Disease	Epileptic encephalopathy, early infantile, 45 (EIEE45) [MIM:617153]
P18507	GBRG2_HUMAN	323	R	Q	Disease	Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277]
P18507	GBRG2_HUMAN	82	R	Q	Disease	Febrile seizures, familial, 8 (FEB8) [MIM:611277]
P18507	GBRG2_HUMAN	79	N	S	Polymorphism	-
P18507	GBRG2_HUMAN	357	H	R	Polymorphism	-
P18507	GBRG2_HUMAN	274	Y	C	Disease	-
P18507	GBRG2_HUMAN	82	R	Q	Disease	Epilepsy, childhood absence 2 (ECA2) [MIM:607681]
P18507	GBRG2_HUMAN	177	R	G	Disease	Febrile seizures, familial, 8 (FEB8) [MIM:611277]
P18507	GBRG2_HUMAN	83	P	S	Unclassified	-
P18507	GBRG2_HUMAN	328	K	M	Disease	Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277]
P18509	PACA_HUMAN	54	D	G	Polymorphism	-
P18510	IL1RA_HUMAN	124	A	T	Polymorphism	-
P18545	CNRG_HUMAN	27	P	H	Polymorphism	-
P18564	ITB6_HUMAN	196	P	T	Disease	Amelogenesis imperfecta 1H (AI1H) [MIM:616221]
P18564	ITB6_HUMAN	437	P	T	Polymorphism	-
P18564	ITB6_HUMAN	143	A	T	Disease	Amelogenesis imperfecta 1H (AI1H) [MIM:616221]
P18564	ITB6_HUMAN	275	H	Q	Disease	Amelogenesis imperfecta 1H (AI1H) [MIM:616221]
P18577	RHCE_HUMAN	245	L	V	Polymorphism	-
P18577	RHCE_HUMAN	263	R	G	Polymorphism	-
P18577	RHCE_HUMAN	154	R	T	Polymorphism	-
P18577	RHCE_HUMAN	267	M	K	Polymorphism	-
P18577	RHCE_HUMAN	329	H	D	Polymorphism	-
P18577	RHCE_HUMAN	198	N	K	Polymorphism	-
P18577	RHCE_HUMAN	68	N	S	Polymorphism	-
P18577	RHCE_HUMAN	238	M	V	Polymorphism	-
P18577	RHCE_HUMAN	325	I	S	Polymorphism	-
P18577	RHCE_HUMAN	329	H	R	Polymorphism	-
P18577	RHCE_HUMAN	103	P	S	Polymorphism	-
P18577	RHCE_HUMAN	330	S	Y	Polymorphism	-
P18577	RHCE_HUMAN	127	A	V	Polymorphism	-
P18577	RHCE_HUMAN	16	W	C	Polymorphism	-
P18577	RHCE_HUMAN	331	I	N	Polymorphism	-
P18577	RHCE_HUMAN	226	P	A	Polymorphism	-
P18577	RHCE_HUMAN	398	V	E	Polymorphism	-
P18577	RHCE_HUMAN	60	L	I	Polymorphism	-
P18577	RHCE_HUMAN	182	T	S	Polymorphism	-
P18577	RHCE_HUMAN	36	A	T	Polymorphism	-
P18577	RHCE_HUMAN	233	Q	E	Polymorphism	-
P18577	RHCE_HUMAN	41	Q	R	Polymorphism	-
P18577	RHCE_HUMAN	128	G	D	Polymorphism	-
P18577	RHCE_HUMAN	323	H	P	Polymorphism	-
P18583	SON_HUMAN	555	T	M	Polymorphism	-
P18583	SON_HUMAN	870	T	A	Polymorphism	-
P18583	SON_HUMAN	473	P	S	Polymorphism	-
P18583	SON_HUMAN	1843	S	Y	Unclassified	ZTTK syndrome (ZTTKS) [MIM:617140]
P18583	SON_HUMAN	1575	R	C	Polymorphism	-
P18583	SON_HUMAN	1637	T	S	Unclassified	ZTTK syndrome (ZTTKS) [MIM:617140]
P18583	SON_HUMAN	1202	S	L	Polymorphism	-
P18627	LAG3_HUMAN	455	I	T	Polymorphism	-
P18827	SDC1_HUMAN	76	T	M	Polymorphism	-
P18827	SDC1_HUMAN	136	L	Q	Polymorphism	-
P18846	ATF1_HUMAN	191	P	A	Polymorphism	-
P18847	ATF3_HUMAN	38	T	M	Polymorphism	-
P18847	ATF3_HUMAN	168	N	T	Unclassified	-
P18848	ATF4_HUMAN	22	Q	P	Polymorphism	-
P18848	ATF4_HUMAN	322	E	D	Polymorphism	-
P18848	ATF4_HUMAN	258	P	A	Polymorphism	-
P18850	ATF6A_HUMAN	567	Y	N	Disease	Achromatopsia 7 (ACHM7) [MIM:616517]
P18850	ATF6A_HUMAN	145	A	P	Polymorphism	-
P18850	ATF6A_HUMAN	67	M	V	Polymorphism	-
P18850	ATF6A_HUMAN	157	P	S	Polymorphism	-
P18850	ATF6A_HUMAN	324	R	C	Disease	Achromatopsia 7 (ACHM7) [MIM:616517]
P18850	ATF6A_HUMAN	67	M	L	Polymorphism	-
P18858	DNLI1_HUMAN	614	T	I	Polymorphism	-
P18858	DNLI1_HUMAN	267	N	S	Polymorphism	-
P18858	DNLI1_HUMAN	249	G	E	Polymorphism	-
P18858	DNLI1_HUMAN	480	M	V	Polymorphism	-
P18858	DNLI1_HUMAN	349	V	M	Polymorphism	-
P18858	DNLI1_HUMAN	72	D	G	Polymorphism	-
P18858	DNLI1_HUMAN	566	E	K	Polymorphism	-
P18858	DNLI1_HUMAN	409	R	H	Polymorphism	-
P18858	DNLI1_HUMAN	612	S	L	Unclassified	A colorectal cancer sample
P18858	DNLI1_HUMAN	52	P	L	Polymorphism	-
P18858	DNLI1_HUMAN	771	R	W	Polymorphism	-
P18858	DNLI1_HUMAN	369	V	I	Polymorphism	-
P18858	DNLI1_HUMAN	152	K	E	Unclassified	A colorectal cancer sample
P18858	DNLI1_HUMAN	62	R	W	Polymorphism	-
P18858	DNLI1_HUMAN	677	R	L	Polymorphism	-
P18858	DNLI1_HUMAN	24	A	V	Polymorphism	-
P18887	XRCC1_HUMAN	161	P	L	Polymorphism	-
P18887	XRCC1_HUMAN	399	R	Q	Polymorphism	-
P18887	XRCC1_HUMAN	559	R	Q	Polymorphism	-
P18887	XRCC1_HUMAN	350	R	W	Unclassified	A colorectal cancer sample
P18887	XRCC1_HUMAN	309	P	S	Polymorphism	-
P18887	XRCC1_HUMAN	298	K	N	Polymorphism	-
P18887	XRCC1_HUMAN	576	N	Y	Polymorphism	-
P18887	XRCC1_HUMAN	514	P	L	Polymorphism	-
P18887	XRCC1_HUMAN	107	R	H	Polymorphism	-
P18887	XRCC1_HUMAN	304	T	A	Polymorphism	-
P18887	XRCC1_HUMAN	10	V	M	Polymorphism	-
P18887	XRCC1_HUMAN	7	R	L	Polymorphism	-
P18887	XRCC1_HUMAN	280	R	H	Polymorphism	-
P18887	XRCC1_HUMAN	157	E	K	Polymorphism	-
P18887	XRCC1_HUMAN	72	V	A	Polymorphism	-
P18887	XRCC1_HUMAN	431	K	N	Disease	Spinocerebellar ataxia, autosomal recessive, 26 (SCAR26) [MIM:617633]
P18887	XRCC1_HUMAN	194	R	W	Polymorphism	-
P18887	XRCC1_HUMAN	576	N	S	Polymorphism	-
P18887	XRCC1_HUMAN	560	R	W	Polymorphism	-
P18887	XRCC1_HUMAN	485	S	Y	Polymorphism	-
P19012	K1C15_HUMAN	416	K	R	Polymorphism	-
P19012	K1C15_HUMAN	147	T	A	Polymorphism	-
P19012	K1C15_HUMAN	421	A	G	Polymorphism	-
P19013	K2C4_HUMAN	72	A	V	Polymorphism	-
P19013	K2C4_HUMAN	449	E	K	Disease	White sponge nevus 1 (WSN1) [MIM:193900]
P19021	AMD_HUMAN	49	V	L	Polymorphism	-
P19022	CADH2_HUMAN	845	N	S	Polymorphism	-
P19022	CADH2_HUMAN	196	S	T	Polymorphism	-
P19022	CADH2_HUMAN	454	T	A	Polymorphism	-
P19022	CADH2_HUMAN	118	A	T	Polymorphism	-
P19022	CADH2_HUMAN	212	I	L	Polymorphism	-
P19022	CADH2_HUMAN	21	A	T	Polymorphism	-
P19075	TSN8_HUMAN	35	V	I	Polymorphism	-
P19075	TSN8_HUMAN	73	G	A	Polymorphism	-
P19075	TSN8_HUMAN	213	S	A	Polymorphism	-
P19087	GNAT2_HUMAN	183	G	D	Polymorphism	-
P19087	GNAT2_HUMAN	107	L	I	Polymorphism	-
P19087	GNAT2_HUMAN	124	V	M	Polymorphism	-
P19099	C11B2_HUMAN	222	N	T	Polymorphism	-
P19099	C11B2_HUMAN	173	K	R	Polymorphism	-
P19099	C11B2_HUMAN	435	G	S	Polymorphism	-
P19099	C11B2_HUMAN	29	A	T	Polymorphism	-
P19099	C11B2_HUMAN	383	E	V	Polymorphism	-
P19099	C11B2_HUMAN	181	R	W	Disease	Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]
P19099	C11B2_HUMAN	339	I	T	Polymorphism	-
P19099	C11B2_HUMAN	248	I	T	Polymorphism	-
P19099	C11B2_HUMAN	403	V	E	Polymorphism	-
P19099	C11B2_HUMAN	487	F	V	Polymorphism	-
P19099	C11B2_HUMAN	461	L	P	Disease	Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) [MIM:203400]
P19099	C11B2_HUMAN	198	E	D	Disease	Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]
P19099	C11B2_HUMAN	30	R	Q	Polymorphism	-
P19099	C11B2_HUMAN	281	N	S	Polymorphism	-
P19099	C11B2_HUMAN	386	V	A	Disease	Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]
P19099	C11B2_HUMAN	185	T	I	Disease	Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]
P19099	C11B2_HUMAN	498	T	A	Disease	Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]
P19113	DCHS_HUMAN	553	F	L	Polymorphism	-
P19113	DCHS_HUMAN	49	E	V	Unclassified	A colorectal cancer sample
P19113	DCHS_HUMAN	31	T	M	Polymorphism	-
P19113	DCHS_HUMAN	644	E	D	Polymorphism	-
P19113	DCHS_HUMAN	285	E	K	Unclassified	A colorectal cancer sample
P19174	PLCG1_HUMAN	739	S	T	Polymorphism	-
P19174	PLCG1_HUMAN	209	T	N	Polymorphism	-
P19174	PLCG1_HUMAN	813	I	T	Polymorphism	-
P19174	PLCG1_HUMAN	279	S	G	Polymorphism	-
P19224	UD16_HUMAN	70	S	Y	Polymorphism	-
P19224	UD16_HUMAN	7	S	A	Polymorphism	-
P19224	UD16_HUMAN	184	R	S	Polymorphism	-
P19224	UD16_HUMAN	181	T	A	Polymorphism	-
P19224	UD16_HUMAN	510	A	P	Polymorphism	-
P19235	EPOR_HUMAN	488	P	S	Polymorphism	-
P19235	EPOR_HUMAN	487	N	S	Unclassified	Erythroleukemia
P19235	EPOR_HUMAN	380	P	A	Polymorphism	-
P19235	EPOR_HUMAN	487	N	S	Disease	Erythrocytosis, familial, 1 (ECYT1) [MIM:133100]
P19237	TNNI1_HUMAN	67	R	W	Polymorphism	-
P19256	LFA3_HUMAN	15	S	G	Polymorphism	-
P19320	VCAM1_HUMAN	318	S	F	Polymorphism	-
P19320	VCAM1_HUMAN	384	T	A	Polymorphism	-
P19320	VCAM1_HUMAN	716	I	L	Polymorphism	-
P19320	VCAM1_HUMAN	18	M	I	Polymorphism	-
P19320	VCAM1_HUMAN	488	H	R	Polymorphism	-
P19320	VCAM1_HUMAN	421	V	I	Polymorphism	-
P19320	VCAM1_HUMAN	413	G	A	Polymorphism	-
P19338	NUCL_HUMAN	68	P	L	Polymorphism	-
P19338	NUCL_HUMAN	122	P	L	Polymorphism	-
P19338	NUCL_HUMAN	174	A	V	Polymorphism	-
P19367	HXK1_HUMAN	529	L	S	Disease	Hexokinase deficiency (HK deficiency) [MIM:235700]
P19367	HXK1_HUMAN	776	L	M	Polymorphism	-
P19367	HXK1_HUMAN	847	E	K	Unclassified	Retinitis pigmentosa 79 (RP79) [MIM:617460]
P19367	HXK1_HUMAN	680	T	S	Disease	Hexokinase deficiency (HK deficiency) [MIM:235700]
P19388	RPAB1_HUMAN	44	S	F	Polymorphism	-
P19404	NDUV2_HUMAN	29	V	A	Polymorphism	-
P19419	ELK1_HUMAN	144	G	S	Polymorphism	-
P19419	ELK1_HUMAN	183	S	N	Polymorphism	-
P19429	TNNI3_HUMAN	171	A	T	Disease	Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210]
P19429	TNNI3_HUMAN	2	A	V	Disease	Cardiomyopathy, dilated 2A (CMD2A) [MIM:611880]
P19429	TNNI3_HUMAN	186	R	Q	Disease	Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]
P19429	TNNI3_HUMAN	185	N	K	Disease	Cardiomyopathy, dilated 1FF (CMD1FF) [MIM:613286]
P19429	TNNI3_HUMAN	206	K	Q	Disease	Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]
P19429	TNNI3_HUMAN	157	A	V	Disease	Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]
P19429	TNNI3_HUMAN	162	R	Q	Disease	Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]
P19429	TNNI3_HUMAN	166	S	F	Disease	Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]
P19429	TNNI3_HUMAN	204	R	H	Disease	Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]
P19429	TNNI3_HUMAN	82	P	S	Polymorphism	-
P19429	TNNI3_HUMAN	36	K	Q	Disease	Cardiomyopathy, dilated 1FF (CMD1FF) [MIM:613286]
P19429	TNNI3_HUMAN	79	R	C	Polymorphism	-
P19429	TNNI3_HUMAN	141	R	Q	Disease	Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]
P19429	TNNI3_HUMAN	192	R	H	Disease	Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210]
P19429	TNNI3_HUMAN	190	D	H	Disease	Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]
P19429	TNNI3_HUMAN	145	R	G	Disease	Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]
P19429	TNNI3_HUMAN	116	A	G	Disease	Cardiomyopathy, dilated 1FF (CMD1FF) [MIM:613286]
P19429	TNNI3_HUMAN	196	D	N	Disease	Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]
P19429	TNNI3_HUMAN	190	D	H	Disease	Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210]
P19429	TNNI3_HUMAN	145	R	W	Disease	Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210]
P19429	TNNI3_HUMAN	178	K	E	Disease	Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210]
P19429	TNNI3_HUMAN	162	R	P	Disease	Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]
P19429	TNNI3_HUMAN	144	L	Q	Disease	Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210]
P19438	TNR1A_HUMAN	121	R	Q	Unclassified	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	79	T	M	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	51	H	Q	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	117	C	R	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	75	P	L	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	115	S	G	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	117	C	Y	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	305	P	T	Polymorphism	-
P19438	TNR1A_HUMAN	62	C	Y	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	81	C	F	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	121	R	P	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	59	C	S	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	62	C	G	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	59	C	R	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19438	TNR1A_HUMAN	99	C	S	Disease	Familial hibernian fever (FHF) [MIM:142680]
P19440	GGT1_HUMAN	435	V	A	Polymorphism	-
P19440	GGT1_HUMAN	51	S	L	Polymorphism	-
P19440	GGT1_HUMAN	272	V	A	Polymorphism	-
P19440	GGT1_HUMAN	177	A	V	Polymorphism	-
P19440	GGT1_HUMAN	419	N	D	Polymorphism	-
P19440	GGT1_HUMAN	52	K	E	Polymorphism	-
P19447	ERCC3_HUMAN	119	T	P	Disease	Trichothiodystrophy 2, photosensitive (TTD2) [MIM:616390]
P19447	ERCC3_HUMAN	99	F	S	Disease	Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]
P19447	ERCC3_HUMAN	117	K	R	Polymorphism	-
P19447	ERCC3_HUMAN	735	S	P	Polymorphism	-
P19447	ERCC3_HUMAN	704	S	L	Polymorphism	-
P19447	ERCC3_HUMAN	418	K	Q	Unclassified	A breast cancer sample
P19447	ERCC3_HUMAN	402	G	C	Polymorphism	-
P19474	RO52_HUMAN	52	P	A	Polymorphism	-
P19474	RO52_HUMAN	88	Q	K	Polymorphism	-
P19474	RO52_HUMAN	231	E	K	Polymorphism	-
P19474	RO52_HUMAN	96	G	R	Polymorphism	-
P19525	E2AK2_HUMAN	506	I	V	Polymorphism	-
P19525	E2AK2_HUMAN	439	L	V	Unclassified	A lung adenocarcinoma sample
P19525	E2AK2_HUMAN	428	V	E	Polymorphism	-
P19526	FUT1_HUMAN	12	A	V	Polymorphism	-
P19526	FUT1_HUMAN	171	W	C	Unclassified	-
P19526	FUT1_HUMAN	242	L	R	Polymorphism	-
P19526	FUT1_HUMAN	164	L	H	Polymorphism	-
P19526	FUT1_HUMAN	241	Y	H	Polymorphism	-
P19526	FUT1_HUMAN	148	D	Y	Polymorphism	-
P19526	FUT1_HUMAN	315	A	V	Unclassified	-
P19526	FUT1_HUMAN	154	Y	H	Polymorphism	-
P19526	FUT1_HUMAN	349	W	C	Polymorphism	-
P19526	FUT1_HUMAN	348	E	K	Polymorphism	-
P19526	FUT1_HUMAN	154	Y	C	Unclassified	-
P19526	FUT1_HUMAN	259	V	E	Unclassified	-
P19532	TFE3_HUMAN	313	T	A	Polymorphism	-
P19532	TFE3_HUMAN	96	S	C	Polymorphism	-
P19544	WT1_HUMAN	355	C	G	Disease	Wilms tumor 1 (WT1) [MIM:194070]
P19544	WT1_HUMAN	181	P	S	Disease	Wilms tumor 1 (WT1) [MIM:194070]
P19544	WT1_HUMAN	366	R	H	Disease	Wilms tumor 1 (WT1) [MIM:194070]
P19544	WT1_HUMAN	379	G	C	Disease	Nephrotic syndrome 4 (NPHS4) [MIM:256370]
P19544	WT1_HUMAN	360	C	Y	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	342	M	R	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	355	C	Y	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	273	S	G	Polymorphism	-
P19544	WT1_HUMAN	330	C	Y	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	394	R	L	Disease	Wilms tumor 1 (WT1) [MIM:194070]
P19544	WT1_HUMAN	364	F	L	Disease	Nephrotic syndrome 4 (NPHS4) [MIM:256370]
P19544	WT1_HUMAN	388	C	R	Disease	Nephrotic syndrome 4 (NPHS4) [MIM:256370]
P19544	WT1_HUMAN	394	R	Q	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	394	R	P	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	373	H	Y	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	369	Q	P	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	312	R	Q	Disease	Nephrotic syndrome 4 (NPHS4) [MIM:256370]
P19544	WT1_HUMAN	394	R	W	Disease	Meacham syndrome (MEACHS) [MIM:608978]
P19544	WT1_HUMAN	388	C	Y	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	253	G	A	Disease	Wilms tumor 1 (WT1) [MIM:194070]
P19544	WT1_HUMAN	281	L	P	Unclassified	-
P19544	WT1_HUMAN	396	D	G	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	394	R	Q	Disease	Nephrotic syndrome 4 (NPHS4) [MIM:256370]
P19544	WT1_HUMAN	396	D	N	Disease	Nephrotic syndrome 4 (NPHS4) [MIM:256370]
P19544	WT1_HUMAN	396	D	Y	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	131	A	T	Unclassified	-
P19544	WT1_HUMAN	366	R	C	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	360	C	G	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	366	R	L	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	401	H	Y	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	405	H	R	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	394	R	W	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	394	R	W	Disease	Wilms tumor 1 (WT1) [MIM:194070]
P19544	WT1_HUMAN	366	R	H	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	383	F	L	Disease	Nephrotic syndrome 4 (NPHS4) [MIM:256370]
P19544	WT1_HUMAN	397	H	P	Disease	Nephrotic syndrome 4 (NPHS4) [MIM:256370]
P19544	WT1_HUMAN	377	H	Y	Disease	Nephrotic syndrome 4 (NPHS4) [MIM:256370]
P19544	WT1_HUMAN	373	H	Q	Disease	Wilms tumor 1 (WT1) [MIM:194070]
P19544	WT1_HUMAN	366	R	C	Disease	Meacham syndrome (MEACHS) [MIM:608978]
P19544	WT1_HUMAN	388	C	F	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	396	D	N	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	223	S	N	Disease	Wilms tumor 1 (WT1) [MIM:194070]
P19544	WT1_HUMAN	398	L	P	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	373	H	Q	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	392	F	L	Disease	Frasier syndrome (FS) [MIM:136680]
P19544	WT1_HUMAN	377	H	R	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19544	WT1_HUMAN	366	R	C	Disease	Wilms tumor 1 (WT1) [MIM:194070]
P19544	WT1_HUMAN	394	R	W	Disease	Nephrotic syndrome 4 (NPHS4) [MIM:256370]
P19544	WT1_HUMAN	385	C	R	Disease	Denys-Drash syndrome (DDS) [MIM:194080]
P19622	HME2_HUMAN	121	L	F	Polymorphism	-
P19623	SPEE_HUMAN	149	L	V	Polymorphism	-
P19634	SL9A1_HUMAN	305	G	R	Disease	Lichtenstein-Knorr syndrome (LIKNS) [MIM:616291]
P19634	SL9A1_HUMAN	682	N	K	Polymorphism	-
P19652	A1AG2_HUMAN	174	M	V	Polymorphism	-
P19652	A1AG2_HUMAN	99	V	A	Polymorphism	-
P19652	A1AG2_HUMAN	141	G	R	Polymorphism	-
P19652	A1AG2_HUMAN	167	C	R	Polymorphism	-
P19652	A1AG2_HUMAN	38	R	Q	Polymorphism	-
P19784	CSK22_HUMAN	188	E	A	Polymorphism	-
P19793	RXRA_HUMAN	336	S	I	Polymorphism	-
P19793	RXRA_HUMAN	327	A	S	Polymorphism	-
P19793	RXRA_HUMAN	261	P	L	Polymorphism	-
P19793	RXRA_HUMAN	398	A	V	Polymorphism	-
P19801	AOC1_HUMAN	659	N	H	Polymorphism	-
P19801	AOC1_HUMAN	645	H	D	Polymorphism	-
P19801	AOC1_HUMAN	16	T	M	Polymorphism	-
P19801	AOC1_HUMAN	479	M	I	Polymorphism	-
P19801	AOC1_HUMAN	332	S	F	Polymorphism	-
P19823	ITIH2_HUMAN	674	P	A	Polymorphism	-
P19823	ITIH2_HUMAN	263	N	S	Polymorphism	-
P19823	ITIH2_HUMAN	569	L	V	Polymorphism	-
P19827	ITIH1_HUMAN	695	G	C	Polymorphism	-
P19827	ITIH1_HUMAN	595	Q	R	Polymorphism	-
P19827	ITIH1_HUMAN	263	S	T	Polymorphism	-
P19827	ITIH1_HUMAN	844	D	E	Polymorphism	-
P19827	ITIH1_HUMAN	585	E	V	Polymorphism	-
P19838	NFKB1_HUMAN	578	R	K	Polymorphism	-
P19838	NFKB1_HUMAN	901	A	T	Polymorphism	-
P19838	NFKB1_HUMAN	711	H	Q	Polymorphism	-
P19838	NFKB1_HUMAN	489	T	I	Polymorphism	-
P19838	NFKB1_HUMAN	506	M	V	Polymorphism	-
P19838	NFKB1_HUMAN	566	T	I	Polymorphism	-
P19876	CXCL3_HUMAN	3	H	R	Polymorphism	-
P19878	NCF2_HUMAN	42	N	S	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	419	N	I	Polymorphism	-
P19878	NCF2_HUMAN	389	H	Q	Polymorphism	-
P19878	NCF2_HUMAN	140	A	D	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	93	D	E	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	44	G	C	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	44	G	R	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	102	R	P	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	395	R	W	Polymorphism	-
P19878	NCF2_HUMAN	78	G	E	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	328	R	K	Polymorphism	-
P19878	NCF2_HUMAN	279	T	M	Polymorphism	-
P19878	NCF2_HUMAN	202	A	V	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	169	Q	E	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	108	D	V	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	79	M	V	Polymorphism	-
P19878	NCF2_HUMAN	128	A	V	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	297	V	A	Polymorphism	-
P19878	NCF2_HUMAN	184	R	P	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	369	G	R	Polymorphism	-
P19878	NCF2_HUMAN	181	K	R	Polymorphism	-
P19878	NCF2_HUMAN	137	W	R	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19878	NCF2_HUMAN	77	R	Q	Disease	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]
P19883	FST_HUMAN	152	E	Q	Polymorphism	-
P19957	ELAF_HUMAN	17	T	M	Polymorphism	-
P19957	ELAF_HUMAN	34	T	P	Polymorphism	-
P19971	TYPH_HUMAN	145	G	R	Disease	Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
P19971	TYPH_HUMAN	153	G	S	Disease	Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
P19971	TYPH_HUMAN	289	E	A	Disease	Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
P19971	TYPH_HUMAN	222	K	R	Disease	Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
P19971	TYPH_HUMAN	44	R	Q	Disease	Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
P19971	TYPH_HUMAN	471	S	L	Polymorphism	-
P20020	AT2B1_HUMAN	267	M	R	Polymorphism	-
P20023	CR2_HUMAN	639	S	N	Polymorphism	-
P20023	CR2_HUMAN	993	I	V	Polymorphism	-
P20023	CR2_HUMAN	1003	A	E	Polymorphism	-
P20036	DPA1_HUMAN	142	K	R	Polymorphism	-
P20036	DPA1_HUMAN	114	T	A	Polymorphism	-
P20036	DPA1_HUMAN	54	M	T	Polymorphism	-
P20036	DPA1_HUMAN	42	A	V	Polymorphism	-
P20036	DPA1_HUMAN	59	E	D	Polymorphism	-
P20036	DPA1_HUMAN	62	M	K	Polymorphism	-
P20036	DPA1_HUMAN	62	M	L	Polymorphism	-
P20036	DPA1_HUMAN	62	M	Q	Polymorphism	-
P20036	DPA1_HUMAN	42	A	T	Polymorphism	-
P20036	DPA1_HUMAN	49	P	T	Polymorphism	-
P20036	DPA1_HUMAN	127	P	A	Polymorphism	-
P20036	DPA1_HUMAN	259	T	P	Polymorphism	-
P20036	DPA1_HUMAN	158	L	P	Polymorphism	-
P20036	DPA1_HUMAN	103	T	I	Polymorphism	-
P20036	DPA1_HUMAN	81	Q	R	Polymorphism	-
P20036	DPA1_HUMAN	221	T	A	Polymorphism	-
P20036	DPA1_HUMAN	97	L	S	Polymorphism	-
P20036	DPA1_HUMAN	191	F	V	Polymorphism	-
P20036	DPA1_HUMAN	100	N	D	Polymorphism	-
P20036	DPA1_HUMAN	82	A	T	Polymorphism	-
P20036	DPA1_HUMAN	74	W	C	Polymorphism	-
P20036	DPA1_HUMAN	42	A	M	Polymorphism	-
P20036	DPA1_HUMAN	104	L	A	Polymorphism	-
P20039	2B1B_HUMAN	55	F	Y	Polymorphism	-
P20039	2B1B_HUMAN	115	G	V	Polymorphism	-
P20039	2B1B_HUMAN	100	R	E	Polymorphism	-
P20042	IF2B_HUMAN	177	E	D	Polymorphism	-
P20061	TCO1_HUMAN	35	R	H	Polymorphism	-
P20061	TCO1_HUMAN	301	D	Y	Polymorphism	-
P20062	TCO2_HUMAN	376	L	S	Polymorphism	-
P20062	TCO2_HUMAN	23	I	V	Polymorphism	-
P20062	TCO2_HUMAN	198	M	T	Polymorphism	-
P20062	TCO2_HUMAN	215	R	W	Polymorphism	-
P20062	TCO2_HUMAN	399	R	Q	Polymorphism	-
P20062	TCO2_HUMAN	89	F	L	Polymorphism	-
P20062	TCO2_HUMAN	348	S	F	Polymorphism	-
P20062	TCO2_HUMAN	259	R	P	Polymorphism	-
P20062	TCO2_HUMAN	227	R	Q	Polymorphism	-
P20062	TCO2_HUMAN	219	I	L	Polymorphism	-
P20073	ANXA7_HUMAN	441	R	Q	Polymorphism	-
P20138	CD33_HUMAN	267	V	I	Polymorphism	-
P20138	CD33_HUMAN	331	T	A	Polymorphism	-
P20138	CD33_HUMAN	128	S	N	Polymorphism	-
P20138	CD33_HUMAN	69	R	G	Polymorphism	-
P20138	CD33_HUMAN	14	A	V	Polymorphism	-
P20138	CD33_HUMAN	22	W	R	Polymorphism	-
P20138	CD33_HUMAN	294	V	L	Polymorphism	-
P20138	CD33_HUMAN	202	R	W	Polymorphism	-
P20138	CD33_HUMAN	304	G	R	Polymorphism	-
P20138	CD33_HUMAN	242	I	L	Polymorphism	-
P20138	CD33_HUMAN	243	F	L	Polymorphism	-
P20151	KLK2_HUMAN	250	R	W	Polymorphism	-
P20151	KLK2_HUMAN	255	D	A	Polymorphism	-
P20151	KLK2_HUMAN	18	V	L	Polymorphism	-
P20248	CCNA2_HUMAN	163	I	V	Polymorphism	-
P20273	CD22_HUMAN	152	Q	E	Polymorphism	-
P20273	CD22_HUMAN	34	A	T	Polymorphism	-
P20273	CD22_HUMAN	639	Y	H	Polymorphism	-
P20273	CD22_HUMAN	745	G	D	Polymorphism	-
P20273	CD22_HUMAN	669	R	C	Polymorphism	-
P20273	CD22_HUMAN	664	S	G	Polymorphism	-
P20273	CD22_HUMAN	203	E	K	Polymorphism	-
P20273	CD22_HUMAN	551	G	R	Polymorphism	-
P20309	ACM3_HUMAN	65	V	I	Polymorphism	-
P20309	ACM3_HUMAN	431	L	P	Polymorphism	-
P20333	TNR1B_HUMAN	264	L	P	Polymorphism	-
P20333	TNR1B_HUMAN	295	Q	R	Polymorphism	-
P20333	TNR1B_HUMAN	196	M	R	Polymorphism	-
P20333	TNR1B_HUMAN	187	V	M	Polymorphism	-
P20333	TNR1B_HUMAN	232	E	K	Polymorphism	-
P20333	TNR1B_HUMAN	301	P	R	Polymorphism	-
P20333	TNR1B_HUMAN	269	T	P	Polymorphism	-
P20333	TNR1B_HUMAN	236	A	T	Polymorphism	-
P20396	TRH_HUMAN	8	L	V	Polymorphism	-
P20585	MSH3_HUMAN	1045	A	T	Polymorphism	-
P20585	MSH3_HUMAN	1054	T	A	Polymorphism	-
P20585	MSH3_HUMAN	949	Q	R	Polymorphism	-
P20585	MSH3_HUMAN	789	Y	F	Polymorphism	-
P20585	MSH3_HUMAN	79	I	V	Polymorphism	-
P20585	MSH3_HUMAN	709	F	L	Polymorphism	-
P20591	MX1_HUMAN	611	Q	H	Polymorphism	-
P20591	MX1_HUMAN	381	A	V	Polymorphism	-
P20591	MX1_HUMAN	379	V	I	Polymorphism	-
P20594	ANPRB_HUMAN	76	S	P	Disease	Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255]
P20594	ANPRB_HUMAN	417	Q	E	Disease	Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255]
P20594	ANPRB_HUMAN	110	R	C	Disease	Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255]
P20594	ANPRB_HUMAN	263	R	P	Disease	Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255]
P20594	ANPRB_HUMAN	176	D	E	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	819	R	C	Disease	Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255]
P20594	ANPRB_HUMAN	658	L	F	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	32	P	T	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	297	T	M	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	959	G	A	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	882	V	M	Disease	Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923]
P20594	ANPRB_HUMAN	771	Q	E	Polymorphism	-
P20594	ANPRB_HUMAN	957	R	C	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	882	V	I	Polymorphism	-
P20594	ANPRB_HUMAN	187	V	I	Polymorphism	-
P20594	ANPRB_HUMAN	409	A	T	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	413	G	E	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	655	R	C	Disease	Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923]
P20594	ANPRB_HUMAN	776	R	W	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	338	Y	C	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	708	Y	C	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	232	M	I	Polymorphism	-
P20594	ANPRB_HUMAN	115	W	G	Disease	Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]
P20594	ANPRB_HUMAN	488	A	P	Disease	Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923]
P20618	PSB1_HUMAN	208	I	N	Polymorphism	-
P20618	PSB1_HUMAN	11	P	A	Polymorphism	-
P20648	ATP4A_HUMAN	265	V	A	Polymorphism	-
P20674	COX5A_HUMAN	107	R	C	Disease	-
P20700	LMNB1_HUMAN	436	A	V	Unclassified	-
P20700	LMNB1_HUMAN	501	A	V	Polymorphism	-
P20701	ITAL_HUMAN	746	Q	K	Polymorphism	-
P20701	ITAL_HUMAN	791	R	T	Polymorphism	-
P20701	ITAL_HUMAN	214	R	W	Polymorphism	-
P20701	ITAL_HUMAN	144	R	H	Polymorphism	-
P20702	ITAX_HUMAN	547	E	K	Polymorphism	-
P20702	ITAX_HUMAN	201	F	L	Polymorphism	-
P20702	ITAX_HUMAN	1012	A	V	Polymorphism	-
P20702	ITAX_HUMAN	251	A	T	Polymorphism	-
P20702	ITAX_HUMAN	971	F	L	Polymorphism	-
P20702	ITAX_HUMAN	564	I	V	Polymorphism	-
P20702	ITAX_HUMAN	48	W	R	Polymorphism	-
P20702	ITAX_HUMAN	517	P	R	Polymorphism	-
P20711	DDC_HUMAN	347	R	Q	Disease	Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711	DDC_HUMAN	147	S	R	Disease	Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711	DDC_HUMAN	408	L	I	Disease	Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711	DDC_HUMAN	275	A	T	Disease	Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711	DDC_HUMAN	239	M	I	Polymorphism	-
P20711	DDC_HUMAN	309	F	L	Disease	Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711	DDC_HUMAN	239	M	L	Polymorphism	-
P20711	DDC_HUMAN	462	R	Q	Polymorphism	-
P20711	DDC_HUMAN	91	A	V	Disease	Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711	DDC_HUMAN	250	S	F	Disease	Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711	DDC_HUMAN	17	M	V	Polymorphism	-
P20711	DDC_HUMAN	102	G	S	Disease	Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711	DDC_HUMAN	47	P	H	Disease	Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711	DDC_HUMAN	210	P	L	Polymorphism	-
P20711	DDC_HUMAN	61	E	D	Polymorphism	-
P20711	DDC_HUMAN	217	M	V	Polymorphism	-
P20718	GRAH_HUMAN	84	R	Q	Polymorphism	-
P20742	PZP_HUMAN	1205	T	P	Polymorphism	-
P20742	PZP_HUMAN	1128	R	H	Unclassified	A colorectal cancer sample
P20742	PZP_HUMAN	1003	T	M	Polymorphism	-
P20742	PZP_HUMAN	1443	I	N	Polymorphism	-
P20742	PZP_HUMAN	691	V	M	Polymorphism	-
P20742	PZP_HUMAN	813	V	A	Polymorphism	-
P20742	PZP_HUMAN	857	N	S	Polymorphism	-
P20742	PZP_HUMAN	379	L	V	Polymorphism	-
P20783	NTF3_HUMAN	76	G	E	Polymorphism	-
P20794	MAK_HUMAN	325	P	L	Polymorphism	-
P20794	MAK_HUMAN	181	I	T	Disease	Retinitis pigmentosa 62 (RP62) [MIM:614181]
P20794	MAK_HUMAN	384	N	S	Polymorphism	-
P20794	MAK_HUMAN	189	I	V	Polymorphism	-
P20794	MAK_HUMAN	550	F	L	Polymorphism	-
P20794	MAK_HUMAN	13	G	S	Disease	Retinitis pigmentosa 62 (RP62) [MIM:614181]
P20794	MAK_HUMAN	329	D	E	Polymorphism	-
P20794	MAK_HUMAN	272	R	P	Unclassified	A breast infiltrating ductal carcinoma sample
P20794	MAK_HUMAN	27	G	R	Disease	Retinitis pigmentosa 62 (RP62) [MIM:614181]
P20794	MAK_HUMAN	520	P	S	Polymorphism	-
P20794	MAK_HUMAN	166	R	H	Disease	Retinitis pigmentosa 62 (RP62) [MIM:614181]
P20794	MAK_HUMAN	130	N	H	Disease	Retinitis pigmentosa 62 (RP62) [MIM:614181]
P20800	EDN2_HUMAN	131	F	L	Polymorphism	-
P20800	EDN2_HUMAN	168	P	L	Polymorphism	-
P20807	CAN3_HUMAN	226	E	K	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	189	L	P	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	222	G	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	334	H	Q	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	541	R	Q	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	236	A	T	Polymorphism	-
P20807	CAN3_HUMAN	232	T	I	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	496	G	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	622	E	A	Polymorphism	-
P20807	CAN3_HUMAN	214	G	S	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	336	Y	N	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	360	W	C	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	567	G	W	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	319	P	L	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	490	R	Q	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	437	R	C	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	744	S	G	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	184	T	M	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	448	R	H	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	21	G	E	Polymorphism	-
P20807	CAN3_HUMAN	215	S	P	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	502	I	T	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	698	R	P	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	493	R	W	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	489	R	W	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	182	L	Q	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	217	E	K	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	354	V	G	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	769	R	Q	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	748	R	Q	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	160	A	G	Polymorphism	-
P20807	CAN3_HUMAN	107	E	K	Polymorphism	-
P20807	CAN3_HUMAN	440	R	W	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	486	Q	E	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	479	S	G	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	490	R	W	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	572	R	Q	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	572	R	W	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	774	H	D	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	183	P	L	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	638	Q	P	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	86	S	F	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	234	G	E	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	705	D	G	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	731	F	S	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	26	P	L	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	606	S	L	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	445	G	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	4	V	I	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	137	C	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	118	R	G	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	702	A	V	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	798	A	E	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	162	I	L	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	448	R	C	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	441	G	D	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	77	D	N	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	705	D	H	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	489	R	Q	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20807	CAN3_HUMAN	448	R	G	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
P20809	IL11_HUMAN	108	V	M	Polymorphism	-
P20809	IL11_HUMAN	112	R	H	Polymorphism	-
P20810	ICAL_HUMAN	537	A	V	Polymorphism	-
P20810	ICAL_HUMAN	408	C	S	Polymorphism	-
P20810	ICAL_HUMAN	592	E	G	Polymorphism	-
P20810	ICAL_HUMAN	380	E	K	Polymorphism	-
P20813	CP2B6_HUMAN	99	G	E	Polymorphism	-
P20813	CP2B6_HUMAN	26	T	S	Polymorphism	-
P20813	CP2B6_HUMAN	328	I	T	Polymorphism	-
P20813	CP2B6_HUMAN	391	I	N	Polymorphism	-
P20813	CP2B6_HUMAN	259	S	R	Polymorphism	-
P20813	CP2B6_HUMAN	172	Q	H	Polymorphism	-
P20813	CP2B6_HUMAN	167	P	A	Polymorphism	-
P20813	CP2B6_HUMAN	22	R	C	Polymorphism	-
P20813	CP2B6_HUMAN	29	R	P	Polymorphism	-
P20813	CP2B6_HUMAN	306	T	S	Polymorphism	-
P20813	CP2B6_HUMAN	487	R	C	Polymorphism	-
P20813	CP2B6_HUMAN	28	D	G	Polymorphism	-
P20813	CP2B6_HUMAN	29	R	S	Polymorphism	-
P20813	CP2B6_HUMAN	21	Q	L	Polymorphism	-
P20813	CP2B6_HUMAN	289	N	K	Polymorphism	-
P20813	CP2B6_HUMAN	46	M	V	Polymorphism	-
P20813	CP2B6_HUMAN	139	K	E	Polymorphism	-
P20813	CP2B6_HUMAN	262	K	R	Polymorphism	-
P20813	CP2B6_HUMAN	140	R	Q	Polymorphism	-
P20815	CP3A5_HUMAN	398	T	N	Polymorphism	-
P20815	CP3A5_HUMAN	337	A	T	Polymorphism	-
P20815	CP3A5_HUMAN	371	I	V	Polymorphism	-
P20815	CP3A5_HUMAN	28	R	C	Polymorphism	-
P20815	CP3A5_HUMAN	200	Q	R	Polymorphism	-
P20815	CP3A5_HUMAN	488	I	T	Polymorphism	-
P20815	CP3A5_HUMAN	277	D	E	Polymorphism	-
P20815	CP3A5_HUMAN	446	F	S	Polymorphism	-
P20815	CP3A5_HUMAN	30	H	Y	Polymorphism	-
P20823	HNF1A_HUMAN	574	G	S	Polymorphism	-
P20823	HNF1A_HUMAN	583	R	G	Disease	Diabetes mellitus, insulin-dependent, 20 (IDDM20) [MIM:612520]
P20823	HNF1A_HUMAN	27	I	L	Polymorphism	-
P20823	HNF1A_HUMAN	272	R	C	Unclassified	-
P20823	HNF1A_HUMAN	271	R	W	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	537	T	R	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	200	R	W	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	12	L	H	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	122	Y	C	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	241	C	G	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	273	K	E	Unclassified	-
P20823	HNF1A_HUMAN	31	G	D	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	48	E	K	Disease	Diabetes mellitus, insulin-dependent, 20 (IDDM20) [MIM:612520]
P20823	HNF1A_HUMAN	583	R	Q	Unclassified	-
P20823	HNF1A_HUMAN	254	L	M	Unclassified	-
P20823	HNF1A_HUMAN	620	T	I	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	619	E	K	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	272	R	H	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	159	R	Q	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	271	R	G	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	487	S	N	Polymorphism	-
P20823	HNF1A_HUMAN	127	N	Y	Unclassified	A hepatocellular carcinoma sample
P20823	HNF1A_HUMAN	205	K	Q	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	514	H	R	Polymorphism	-
P20823	HNF1A_HUMAN	129	P	T	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	131	R	W	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	415	G	R	Disease	Diabetes mellitus, insulin-dependent, 20 (IDDM20) [MIM:612520]
P20823	HNF1A_HUMAN	206	W	L	Unclassified	-
P20823	HNF1A_HUMAN	447	P	L	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	618	I	M	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	165	W	C	Unclassified	A hepatocellular carcinoma sample
P20823	HNF1A_HUMAN	203	R	H	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	98	A	V	Polymorphism	-
P20823	HNF1A_HUMAN	206	W	C	Unclassified	-
P20823	HNF1A_HUMAN	158	K	N	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	519	P	L	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	244	R	G	Unclassified	-
P20823	HNF1A_HUMAN	272	R	H	Disease	Diabetes mellitus, insulin-dependent, 20 (IDDM20) [MIM:612520]
P20823	HNF1A_HUMAN	263	R	C	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	259	V	D	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	594	S	I	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	20	G	R	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	229	R	Q	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	237	N	S	Unclassified	-
P20823	HNF1A_HUMAN	268	F	C	Unclassified	-
P20823	HNF1A_HUMAN	319	G	S	Unclassified	-
P20823	HNF1A_HUMAN	250	Q	P	Unclassified	A hepatocellular carcinoma sample
P20823	HNF1A_HUMAN	159	R	W	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	191	G	D	Unclassified	-
P20823	HNF1A_HUMAN	143	H	Y	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	203	R	C	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	432	S	C	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	241	C	G	Disease	Diabetes mellitus, insulin-dependent, 20 (IDDM20) [MIM:612520]
P20823	HNF1A_HUMAN	161	A	T	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	133	V	M	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	142	S	F	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	128	I	N	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	107	L	R	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	117	K	E	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	131	R	Q	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20823	HNF1A_HUMAN	260	T	M	Disease	Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]
P20827	EFNA1_HUMAN	159	D	V	Polymorphism	-
P20839	IMDH1_HUMAN	372	H	P	Disease	Retinitis pigmentosa 10 (RP10) [MIM:180105]
P20839	IMDH1_HUMAN	226	D	N	Disease	Retinitis pigmentosa 10 (RP10) [MIM:180105]
P20839	IMDH1_HUMAN	324	G	D	Unclassified	-
P20839	IMDH1_HUMAN	116	T	M	Disease	Retinitis pigmentosa 10 (RP10) [MIM:180105]
P20839	IMDH1_HUMAN	224	R	P	Disease	Retinitis pigmentosa 10 (RP10) [MIM:180105]
P20839	IMDH1_HUMAN	285	A	T	Polymorphism	-
P20839	IMDH1_HUMAN	198	N	K	Disease	Leber congenital amaurosis 11 (LCA11) [MIM:613837]
P20839	IMDH1_HUMAN	268	V	I	Disease	Retinitis pigmentosa 10 (RP10) [MIM:180105]
P20839	IMDH1_HUMAN	105	R	W	Disease	Leber congenital amaurosis 11 (LCA11) [MIM:613837]
P20848	A1ATR_HUMAN	341	E	K	Unclassified	-
P20848	A1ATR_HUMAN	329	P	L	Unclassified	-
P20849	CO9A1_HUMAN	621	Q	R	Polymorphism	-
P20849	CO9A1_HUMAN	767	M	V	Polymorphism	-
P20849	CO9A1_HUMAN	882	V	L	Polymorphism	-
P20849	CO9A1_HUMAN	870	R	K	Polymorphism	-
P20849	CO9A1_HUMAN	684	E	K	Polymorphism	-
P20849	CO9A1_HUMAN	339	S	P	Polymorphism	-
P20851	C4BPB_HUMAN	102	K	Q	Polymorphism	-
P20851	C4BPB_HUMAN	198	P	S	Polymorphism	-
P20853	CP2A7_HUMAN	301	A	G	Polymorphism	-
P20853	CP2A7_HUMAN	64	C	R	Polymorphism	-
P20853	CP2A7_HUMAN	61	F	I	Polymorphism	-
P20853	CP2A7_HUMAN	169	D	E	Polymorphism	-
P20853	CP2A7_HUMAN	311	R	C	Polymorphism	-
P20853	CP2A7_HUMAN	479	V	G	Polymorphism	-
P20853	CP2A7_HUMAN	274	H	R	Polymorphism	-
P20853	CP2A7_HUMAN	368	M	T	Polymorphism	-
P20908	CO5A1_HUMAN	951	N	S	Polymorphism	-
P20908	CO5A1_HUMAN	229	D	N	Unclassified	-
P20908	CO5A1_HUMAN	1486	G	C	Disease	Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
P20908	CO5A1_HUMAN	192	D	N	Polymorphism	-
P20908	CO5A1_HUMAN	114	A	D	Polymorphism	-
P20908	CO5A1_HUMAN	1489	G	D	Disease	Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
P20908	CO5A1_HUMAN	1639	C	S	Disease	Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
P20908	CO5A1_HUMAN	908	P	L	Polymorphism	-
P20908	CO5A1_HUMAN	1140	V	M	Polymorphism	-
P20908	CO5A1_HUMAN	393	P	S	Unclassified	-
P20908	CO5A1_HUMAN	530	G	S	Disease	Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
P20908	CO5A1_HUMAN	25	L	P	Disease	Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
P20908	CO5A1_HUMAN	863	E	V	Polymorphism	-
P20908	CO5A1_HUMAN	25	L	R	Disease	Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
P20916	MAG_HUMAN	118	R	H	Unclassified	Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680]
P20916	MAG_HUMAN	133	S	R	Disease	Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680]
P20916	MAG_HUMAN	430	C	G	Unclassified	Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680]
P20916	MAG_HUMAN	202	L	M	Polymorphism	-
P20929	NEBU_HUMAN	4401	R	T	Polymorphism	-
P20929	NEBU_HUMAN	1491	V	M	Polymorphism	-
P20929	NEBU_HUMAN	1479	V	I	Polymorphism	-
P20929	NEBU_HUMAN	2773	R	Q	Polymorphism	-
P20929	NEBU_HUMAN	191	E	Q	Polymorphism	-
P20929	NEBU_HUMAN	2952	V	G	Polymorphism	-
P20929	NEBU_HUMAN	4271	P	L	Polymorphism	-
P20929	NEBU_HUMAN	5934	G	E	Polymorphism	-
P20929	NEBU_HUMAN	5463	R	P	Polymorphism	-
P20929	NEBU_HUMAN	1469	E	D	Polymorphism	-
P20929	NEBU_HUMAN	4337	N	S	Polymorphism	-
P20929	NEBU_HUMAN	2912	S	P	Polymorphism	-
P20929	NEBU_HUMAN	6131	T	I	Polymorphism	-
P20929	NEBU_HUMAN	1301	Y	H	Polymorphism	-
P20929	NEBU_HUMAN	146	T	A	Polymorphism	-
P20929	NEBU_HUMAN	2613	K	N	Polymorphism	-
P20929	NEBU_HUMAN	1027	K	N	Polymorphism	-
P20929	NEBU_HUMAN	6546	I	V	Polymorphism	-
P20929	NEBU_HUMAN	5030	D	V	Polymorphism	-
P20929	NEBU_HUMAN	1969	Y	H	Polymorphism	-
P20929	NEBU_HUMAN	3887	S	T	Polymorphism	-
P20929	NEBU_HUMAN	3360	W	C	Polymorphism	-
P20930	FILA_HUMAN	3371	S	F	Polymorphism	-
P20930	FILA_HUMAN	2781	D	Y	Polymorphism	-
P20930	FILA_HUMAN	3105	Y	D	Polymorphism	-
P20930	FILA_HUMAN	3695	S	F	Polymorphism	-
P20930	FILA_HUMAN	3696	T	A	Polymorphism	-
P20930	FILA_HUMAN	3437	H	Q	Polymorphism	-
P20930	FILA_HUMAN	3427	S	Y	Polymorphism	-
P20930	FILA_HUMAN	3761	H	Q	Polymorphism	-
P20930	FILA_HUMAN	3760	G	A	Polymorphism	-
P20930	FILA_HUMAN	3490	R	C	Polymorphism	-
P20930	FILA_HUMAN	1437	R	C	Polymorphism	-
P20930	FILA_HUMAN	2540	R	Q	Polymorphism	-
P20930	FILA_HUMAN	3751	S	Y	Polymorphism	-
P20930	FILA_HUMAN	1805	A	V	Polymorphism	-
P20930	FILA_HUMAN	3814	R	C	Polymorphism	-
P20930	FILA_HUMAN	3739	H	Y	Polymorphism	-
P20930	FILA_HUMAN	3396	S	P	Polymorphism	-
P20930	FILA_HUMAN	1376	R	G	Polymorphism	-
P20930	FILA_HUMAN	3415	H	Y	Polymorphism	-
P20930	FILA_HUMAN	3436	G	A	Polymorphism	-
P20930	FILA_HUMAN	3908	D	N	Polymorphism	-
P20930	FILA_HUMAN	3720	S	P	Polymorphism	-
P20930	FILA_HUMAN	3584	D	N	Polymorphism	-
P20930	FILA_HUMAN	2022	I	T	Polymorphism	-
P20930	FILA_HUMAN	3935	S	P	Polymorphism	-
P20930	FILA_HUMAN	1184	S	L	Polymorphism	-
P20930	FILA_HUMAN	2545	G	R	Polymorphism	-
P20930	FILA_HUMAN	2507	H	Q	Polymorphism	-
P20930	FILA_HUMAN	1961	H	Q	Polymorphism	-
P20930	FILA_HUMAN	3827	G	W	Polymorphism	-
P20930	FILA_HUMAN	2119	Y	H	Polymorphism	-
P20930	FILA_HUMAN	332	G	V	Polymorphism	-
P20930	FILA_HUMAN	3503	W	G	Polymorphism	-
P20930	FILA_HUMAN	3512	Q	R	Polymorphism	-
P20930	FILA_HUMAN	3564	R	H	Polymorphism	-
P20930	FILA_HUMAN	2194	Y	H	Polymorphism	-
P20930	FILA_HUMAN	1816	H	Q	Polymorphism	-
P20930	FILA_HUMAN	1891	R	Q	Polymorphism	-
P20930	FILA_HUMAN	725	T	I	Polymorphism	-
P20930	FILA_HUMAN	454	T	A	Polymorphism	-
P20930	FILA_HUMAN	1699	R	C	Polymorphism	-
P20930	FILA_HUMAN	3179	V	G	Polymorphism	-
P20930	FILA_HUMAN	742	S	Y	Polymorphism	-
P20930	FILA_HUMAN	444	G	R	Polymorphism	-
P20930	FILA_HUMAN	1750	S	F	Polymorphism	-
P20930	FILA_HUMAN	478	P	S	Polymorphism	-
P20930	FILA_HUMAN	2108	A	V	Polymorphism	-
P20930	FILA_HUMAN	1684	R	H	Polymorphism	-
P20930	FILA_HUMAN	3593	E	D	Polymorphism	-
P20930	FILA_HUMAN	3970	S	L	Polymorphism	-
P20930	FILA_HUMAN	3630	H	Y	Polymorphism	-
P20930	FILA_HUMAN	1482	S	Y	Polymorphism	-
P20933	ASPG_HUMAN	257	T	I	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	252	G	E	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	322	T	I	Polymorphism	-
P20933	ASPG_HUMAN	100	G	E	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	101	A	V	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	12	V	L	Unclassified	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	60	G	D	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	302	G	R	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	149	T	S	Polymorphism	-
P20933	ASPG_HUMAN	135	F	S	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	163	C	S	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	252	G	R	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	306	C	R	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	72	S	P	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20933	ASPG_HUMAN	161	R	Q	Disease	Aspartylglucosaminuria (AGU) [MIM:208400]
P20936	RASA1_HUMAN	626	A	E	Disease	Capillary malformation-arteriovenous malformation 1 (CMAVM1) [MIM:608354]
P20936	RASA1_HUMAN	528	Y	C	Unclassified	Capillary malformation-arteriovenous malformation 1 (CMAVM1) [MIM:608354]
P20936	RASA1_HUMAN	530	V	D	Disease	Capillary malformation-arteriovenous malformation 1 (CMAVM1) [MIM:608354]
P20936	RASA1_HUMAN	540	C	Y	Disease	Capillary malformation-arteriovenous malformation 1 (CMAVM1) [MIM:608354]
P20936	RASA1_HUMAN	763	E	V	Unclassified	Capillary malformation-arteriovenous malformation 1 (CMAVM1) [MIM:608354]
P20936	RASA1_HUMAN	401	I	V	Unclassified	Basal cell carcinomas
P20936	RASA1_HUMAN	398	R	L	Unclassified	Basal cell carcinomas
P20936	RASA1_HUMAN	400	K	E	Unclassified	Basal cell carcinomas
P21108	PRPS3_HUMAN	279	E	D	Polymorphism	-
P21127	CD11B_HUMAN	201	R	W	Polymorphism	-
P21127	CD11B_HUMAN	57	R	C	Polymorphism	-
P21127	CD11B_HUMAN	601	L	Q	Polymorphism	-
P21127	CD11B_HUMAN	670	A	V	Polymorphism	-
P21127	CD11B_HUMAN	641	K	N	Polymorphism	-
P21127	CD11B_HUMAN	452	V	A	Polymorphism	-
P21127	CD11B_HUMAN	506	G	S	Polymorphism	-
P21127	CD11B_HUMAN	109	R	C	Polymorphism	-
P21127	CD11B_HUMAN	463	I	V	Polymorphism	-
P21127	CD11B_HUMAN	93	R	W	Polymorphism	-
P21127	CD11B_HUMAN	414	S	L	Polymorphism	-
P21217	FUT3_HUMAN	68	W	R	Polymorphism	-
P21217	FUT3_HUMAN	5	G	S	Polymorphism	-
P21217	FUT3_HUMAN	356	I	K	Polymorphism	-
P21217	FUT3_HUMAN	160	R	C	Polymorphism	-
P21217	FUT3_HUMAN	223	G	R	Polymorphism	-
P21217	FUT3_HUMAN	325	T	M	Polymorphism	-
P21217	FUT3_HUMAN	327	R	Q	Polymorphism	-
P21217	FUT3_HUMAN	170	G	S	Polymorphism	-
P21217	FUT3_HUMAN	105	T	M	Polymorphism	-
P21217	FUT3_HUMAN	162	D	N	Polymorphism	-
P21217	FUT3_HUMAN	20	L	R	Polymorphism	-
P21217	FUT3_HUMAN	270	V	M	Polymorphism	-
P21217	FUT3_HUMAN	102	Q	K	Polymorphism	-
P21217	FUT3_HUMAN	124	S	A	Polymorphism	-
P21217	FUT3_HUMAN	336	D	A	Polymorphism	-
P21266	GSTM3_HUMAN	224	V	I	Polymorphism	-
P21281	VATB2_HUMAN	485	R	P	Disease	Zimmermann-Laband syndrome 2 (ZLS2) [MIM:616455]
P21291	CSRP1_HUMAN	108	K	I	Polymorphism	-
P21333	FLNA_HUMAN	370	F	L	Polymorphism	-
P21333	FLNA_HUMAN	207	P	L	Disease	Otopalatodigital syndrome 1 (OPD1) [MIM:311300]
P21333	FLNA_HUMAN	1184	D	E	Disease	Melnick-Needles syndrome (MNS) [MIM:309350]
P21333	FLNA_HUMAN	637	P	Q	Disease	Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
P21333	FLNA_HUMAN	320	V	A	Polymorphism	-
P21333	FLNA_HUMAN	187	N	S	Unclassified	Otopalatodigital syndrome 2 (OPD2) [MIM:304120]
P21333	FLNA_HUMAN	196	R	G	Disease	Otopalatodigital syndrome 2 (OPD2) [MIM:304120]
P21333	FLNA_HUMAN	149	S	F	Disease	Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049]
P21333	FLNA_HUMAN	200	A	S	Disease	Otopalatodigital syndrome 2 (OPD2) [MIM:304120]
P21333	FLNA_HUMAN	656	L	F	Disease	Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049]
P21333	FLNA_HUMAN	172	L	F	Disease	Otopalatodigital syndrome 1 (OPD1) [MIM:311300]
P21333	FLNA_HUMAN	1419	A	G	Polymorphism	-
P21333	FLNA_HUMAN	555	T	K	Disease	Otopalatodigital syndrome 2 (OPD2) [MIM:304120]
P21333	FLNA_HUMAN	267	A	T	Unclassified	Otopalatodigital syndrome 1 (OPD1) [MIM:311300]
P21333	FLNA_HUMAN	528	V	M	Polymorphism	-
P21333	FLNA_HUMAN	1764	A	T	Polymorphism	-
P21333	FLNA_HUMAN	82	E	V	Disease	Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049]
P21333	FLNA_HUMAN	1163	V	L	Unclassified	Melnick-Needles syndrome (MNS) [MIM:309350]
P21333	FLNA_HUMAN	552	V	A	Polymorphism	-
P21333	FLNA_HUMAN	102	M	V	Disease	Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049]
P21333	FLNA_HUMAN	1291	P	L	Disease	FG syndrome 2 (FGS2) [MIM:300321]
P21333	FLNA_HUMAN	1188	A	T	Disease	Melnick-Needles syndrome (MNS) [MIM:309350]
P21333	FLNA_HUMAN	288	G	R	Disease	Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
P21333	FLNA_HUMAN	1728	G	C	Disease	Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620]
P21333	FLNA_HUMAN	203	D	Y	Disease	Otopalatodigital syndrome 1 (OPD1) [MIM:311300]
P21333	FLNA_HUMAN	273	A	P	Disease	Otopalatodigital syndrome 2 (OPD2) [MIM:304120]
P21333	FLNA_HUMAN	804	V	D	Unclassified	Otopalatodigital syndrome 1 (OPD1) [MIM:311300]
P21333	FLNA_HUMAN	2391	R	H	Unclassified	Otopalatodigital syndrome 1 (OPD1) [MIM:311300]
P21333	FLNA_HUMAN	1012	S	L	Polymorphism	-
P21333	FLNA_HUMAN	1645	C	F	Disease	Otopalatodigital syndrome 2 (OPD2) [MIM:304120]
P21333	FLNA_HUMAN	1159	D	A	Disease	Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620]
P21333	FLNA_HUMAN	254	E	K	Disease	Otopalatodigital syndrome 2 (OPD2) [MIM:304120]
P21333	FLNA_HUMAN	128	A	V	Disease	Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049]
P21333	FLNA_HUMAN	170	Q	P	Disease	Otopalatodigital syndrome 2 (OPD2) [MIM:304120]
P21333	FLNA_HUMAN	39	A	G	Disease	Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049]
P21333	FLNA_HUMAN	1840	H	R	Unclassified	Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620]
P21333	FLNA_HUMAN	711	V	D	Disease	Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
P21333	FLNA_HUMAN	1142	D	V	Unclassified	Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620]
P21333	FLNA_HUMAN	1199	S	L	Disease	Melnick-Needles syndrome (MNS) [MIM:309350]
P21333	FLNA_HUMAN	210	C	F	Disease	Otopalatodigital syndrome 2 (OPD2) [MIM:304120]
P21333	FLNA_HUMAN	1803	E	K	Disease	-
P21333	FLNA_HUMAN	429	T	M	Polymorphism	-
P21333	FLNA_HUMAN	196	R	W	Disease	Otopalatodigital syndrome 1 (OPD1) [MIM:311300]
P21333	FLNA_HUMAN	1186	S	L	Disease	Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620]
P21359	NF1_HUMAN	712	H	R	Unclassified	Mismatch repair deficient cancer cells
P21359	NF1_HUMAN	1440	K	Q	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1276	R	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	194	L	R	Disease	Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]
P21359	NF1_HUMAN	176	D	E	Polymorphism	-
P21359	NF1_HUMAN	604	L	V	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	93	C	Y	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1147	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	844	L	F	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1204	R	W	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	2631	T	A	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	338	D	G	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	898	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1951	P	L	Unclassified	A colorectal cancer sample
P21359	NF1_HUMAN	1156	N	S	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	508	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	2088	L	P	Disease	Familial spinal neurofibromatosis (FSNF) [MIM:162210]
P21359	NF1_HUMAN	629	G	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1276	R	Q	Unclassified	Mismatch repair deficient cancer cells
P21359	NF1_HUMAN	1611	R	W	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1276	R	Q	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1451	N	T	Disease	Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]
P21359	NF1_HUMAN	1952	W	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1440	K	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	2192	Y	N	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1412	R	S	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	74	A	D	Unclassified	Mismatch repair deficient cancer cells
P21359	NF1_HUMAN	578	L	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1166	G	D	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	780	T	K	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	581	I	T	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	145	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1193	F	C	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1430	K	E	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	117	I	S	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1187	L	I	Unclassified	A colorectal cancer sample
P21359	NF1_HUMAN	393	H	D	Polymorphism	-
P21359	NF1_HUMAN	784	W	C	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1489	S	G	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	82	S	F	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1484	S	F	Polymorphism	-
P21359	NF1_HUMAN	968	M	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	777	W	S	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	784	W	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	920	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1204	R	G	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1276	R	G	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	844	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1953	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	393	H	L	Polymorphism	-
P21359	NF1_HUMAN	2164	L	M	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	665	S	F	Unclassified	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1446	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	519	Q	P	Polymorphism	-
P21359	NF1_HUMAN	583	K	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1411	L	F	Disease	Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]
P21359	NF1_HUMAN	695	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	357	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1250	R	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	489	Y	C	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1444	K	E	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	781	H	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	186	D	V	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	93	C	W	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	532	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1189	Q	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	765	R	H	Unclassified	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	2125	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	678	P	L	Polymorphism	-
P21359	NF1_HUMAN	157	I	N	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	80	Y	C	Polymorphism	-
P21359	NF1_HUMAN	2507	T	I	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1444	K	N	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	844	L	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	337	E	V	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	847	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1035	M	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1243	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	763	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	2745	G	R	Unclassified	A breast cancer sample
P21359	NF1_HUMAN	1048	W	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1785	A	S	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	2221	P	A	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	2001	G	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1444	K	E	Disease	Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]
P21359	NF1_HUMAN	1444	K	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1453	V	L	Disease	Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]
P21359	NF1_HUMAN	1073	M	V	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	2511	V	L	Polymorphism	-
P21359	NF1_HUMAN	574	S	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	873	R	C	Polymorphism	-
P21359	NF1_HUMAN	776	A	T	Polymorphism	-
P21359	NF1_HUMAN	324	C	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	216	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1605	I	V	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	848	G	E	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	549	L	P	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	330	A	T	Polymorphism	-
P21359	NF1_HUMAN	1196	L	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	2357	E	K	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	1422	Y	H	Polymorphism	-
P21359	NF1_HUMAN	31	H	R	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	2012	D	N	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	491	Y	C	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	160	R	T	Disease	Neurofibromatosis 1 (NF1) [MIM:162200]
P21359	NF1_HUMAN	80	Y	S	Polymorphism	-
P21397	AOFA_HUMAN	266	C	F	Disease	-
P21397	AOFA_HUMAN	188	E	K	Polymorphism	-
P21397	AOFA_HUMAN	520	K	R	Polymorphism	-
P21397	AOFA_HUMAN	314	F	V	Polymorphism	-
P21397	AOFA_HUMAN	15	D	E	Unclassified	A breast cancer sample
P21399	ACOC_HUMAN	395	A	D	Polymorphism	-
P21399	ACOC_HUMAN	318	T	M	Polymorphism	-
P21399	ACOC_HUMAN	486	G	R	Polymorphism	-
P21439	MDR3_HUMAN	1125	E	K	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	1185	G	S	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	1183	S	L	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	840	A	D	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	964	V	T	Unclassified	-
P21439	MDR3_HUMAN	978	S	P	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	975	L	V	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	764	I	L	Unclassified	-
P21439	MDR3_HUMAN	652	R	G	Polymorphism	-
P21439	MDR3_HUMAN	1084	R	W	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	954	G	S	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	450	E	G	Polymorphism	-
P21439	MDR3_HUMAN	983	G	S	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	590	R	Q	Unclassified	-
P21439	MDR3_HUMAN	726	P	T	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	742	G	S	Polymorphism	-
P21439	MDR3_HUMAN	775	T	M	Unclassified	-
P21439	MDR3_HUMAN	729	S	L	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	711	F	S	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	536	G	R	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	737	A	V	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	238	L	V	Polymorphism	-
P21439	MDR3_HUMAN	591	L	Q	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	934	A	T	Unclassified	-
P21439	MDR3_HUMAN	715	T	I	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	357	F	L	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	286	A	V	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	150	R	K	Disease	Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
P21439	MDR3_HUMAN	535	G	D	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	762	G	E	Disease	Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
P21439	MDR3_HUMAN	556	L	R	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	564	D	G	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	138	W	R	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	406	R	Q	Unclassified	-
P21439	MDR3_HUMAN	723	G	E	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	475	V	A	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	479	P	L	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	788	R	Q	Unclassified	-
P21439	MDR3_HUMAN	541	I	F	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	546	A	D	Disease	Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
P21439	MDR3_HUMAN	320	S	F	Unclassified	Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
P21439	MDR3_HUMAN	320	S	F	Unclassified	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	726	P	L	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	701	L	P	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	511	A	T	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	528	E	D	Unclassified	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	286	A	V	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	541	I	F	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	589	H	T	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	558	E	K	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	651	T	N	Polymorphism	-
P21439	MDR3_HUMAN	1168	P	S	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	95	P	S	Polymorphism	-
P21439	MDR3_HUMAN	320	S	F	Unclassified	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	175	T	A	Unclassified	-
P21439	MDR3_HUMAN	1193	A	T	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	126	G	E	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	513	E	K	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	403	Y	H	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	47	R	G	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	549	R	H	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	34	T	M	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	154	F	S	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	201	T	M	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	263	I	V	Polymorphism	-
P21439	MDR3_HUMAN	250	A	P	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	165	F	I	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	511	A	T	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	459	D	H	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	424	T	A	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	510	N	S	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	1082	L	Q	Polymorphism	-
P21439	MDR3_HUMAN	593	T	A	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	73	L	V	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	593	T	M	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	367	I	V	Polymorphism	-
P21439	MDR3_HUMAN	364	A	V	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	481	L	R	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	406	R	G	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	87	D	E	Polymorphism	-
P21439	MDR3_HUMAN	647	E	K	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	47	R	Q	Unclassified	-
P21439	MDR3_HUMAN	630	M	V	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	70	G	R	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	545	R	H	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	99	S	F	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	68	G	R	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	301	M	T	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	346	S	I	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	124	G	S	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	425	V	M	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	73	L	V	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	395	E	G	Disease	Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439	MDR3_HUMAN	71	L	H	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21439	MDR3_HUMAN	78	F	C	Disease	Gallbladder disease 1 (GBD1) [MIM:600803]
P21452	NK2R_HUMAN	23	I	T	Polymorphism	-
P21452	NK2R_HUMAN	395	H	R	Polymorphism	-
P21452	NK2R_HUMAN	245	M	K	Polymorphism	-
P21452	NK2R_HUMAN	363	T	A	Polymorphism	-
P21452	NK2R_HUMAN	47	A	T	Polymorphism	-
P21452	NK2R_HUMAN	375	R	H	Polymorphism	-
P21453	S1PR1_HUMAN	332	P	R	Polymorphism	-
P21453	S1PR1_HUMAN	115	A	T	Polymorphism	-
P21453	S1PR1_HUMAN	15	S	L	Polymorphism	-
P21462	FPR1_HUMAN	190	R	W	Polymorphism	-
P21462	FPR1_HUMAN	101	V	L	Polymorphism	-
P21462	FPR1_HUMAN	346	E	A	Polymorphism	-
P21462	FPR1_HUMAN	192	N	K	Polymorphism	-
P21462	FPR1_HUMAN	11	I	T	Polymorphism	-
P21506	ZNF10_HUMAN	227	Q	R	Polymorphism	-
P21549	SPYA_HUMAN	253	C	R	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	279	I	M	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	279	I	T	Polymorphism	-
P21549	SPYA_HUMAN	202	I	N	Unclassified	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	112	A	D	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	41	G	V	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	161	G	C	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	336	V	D	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	350	G	D	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	298	L	P	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	150	L	P	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	201	D	E	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	244	I	T	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	340	I	M	Polymorphism	-
P21549	SPYA_HUMAN	161	G	S	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	152	F	I	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	243	D	H	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	170	G	R	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	280	A	V	Polymorphism	-
P21549	SPYA_HUMAN	22	N	S	Polymorphism	-
P21549	SPYA_HUMAN	11	P	L	Polymorphism	-
P21549	SPYA_HUMAN	287	S	T	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	233	R	C	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	116	G	R	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	36	R	C	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	233	R	H	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	161	G	R	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	41	G	E	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	156	G	R	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	218	S	L	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	9	T	N	Polymorphism	-
P21549	SPYA_HUMAN	205	S	P	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	82	G	R	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	82	G	E	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	195	M	R	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	233	R	L	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	153	L	V	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	295	A	T	Polymorphism	-
P21549	SPYA_HUMAN	158	S	L	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	41	G	R	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	326	V	I	Polymorphism	-
P21549	SPYA_HUMAN	183	D	N	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	190	G	R	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	47	G	R	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	108	W	R	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	289	R	C	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	173	C	Y	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	187	S	F	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549	SPYA_HUMAN	166	L	P	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21579	SYT1_HUMAN	368	I	T	Disease	Baker-Gordon syndrome (BAGOS) [MIM:618218]
P21579	SYT1_HUMAN	371	N	K	Disease	Baker-Gordon syndrome (BAGOS) [MIM:618218]
P21579	SYT1_HUMAN	304	D	G	Disease	Baker-Gordon syndrome (BAGOS) [MIM:618218]
P21579	SYT1_HUMAN	303	M	K	Disease	Baker-Gordon syndrome (BAGOS) [MIM:618218]
P21579	SYT1_HUMAN	366	D	E	Disease	Baker-Gordon syndrome (BAGOS) [MIM:618218]
P21580	TNAP3_HUMAN	127	F	C	Polymorphism	-
P21580	TNAP3_HUMAN	766	A	P	Polymorphism	-
P21580	TNAP3_HUMAN	243	C	Y	Disease	Autoinflammatory syndrome, familial, Behcet-like (AISBL) [MIM:616744]
P21580	TNAP3_HUMAN	125	A	V	Polymorphism	-
P21583	SCF_HUMAN	210	D	Y	Polymorphism	-
P21583	SCF_HUMAN	36	N	S	Disease	Hyperpigmentation with or without hypopigmentation, familial progressive (FPHH) [MIM:145250]
P21583	SCF_HUMAN	232	F	Y	Polymorphism	-
P21583	SCF_HUMAN	104	L	V	Unclassified	-
P21583	SCF_HUMAN	54	T	A	Polymorphism	-
P21589	5NTD_HUMAN	358	C	Y	Disease	Calcification of joints and arteries (CALJA) [MIM:211800]
P21589	5NTD_HUMAN	376	T	A	Polymorphism	-
P21589	5NTD_HUMAN	379	M	T	Polymorphism	-
P21675	TAF1_HUMAN	1316	I	T	Disease	Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
P21675	TAF1_HUMAN	651	E	K	Unclassified	A metastatic melanoma sample
P21675	TAF1_HUMAN	297	A	G	Polymorphism	-
P21675	TAF1_HUMAN	269	L	V	Polymorphism	-
P21675	TAF1_HUMAN	691	M	I	Unclassified	A lung bronchoalveolar carcinoma sample
P21675	TAF1_HUMAN	786	C	R	Disease	Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
P21675	TAF1_HUMAN	453	G	D	Unclassified	A colorectal adenocarcinoma sample
P21675	TAF1_HUMAN	1383	V	I	Polymorphism	-
P21675	TAF1_HUMAN	1431	R	H	Unclassified	Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
P21675	TAF1_HUMAN	1225	R	W	Disease	Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
P21675	TAF1_HUMAN	575	P	S	Disease	Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
P21675	TAF1_HUMAN	1169	R	C	Unclassified	-
P21675	TAF1_HUMAN	472	N	D	Unclassified	-
P21675	TAF1_HUMAN	955	D	H	Disease	Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
P21675	TAF1_HUMAN	1496	N	H	Unclassified	Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
P21695	GPDA_HUMAN	197	V	A	Polymorphism	-
P21695	GPDA_HUMAN	113	A	P	Polymorphism	-
P21695	GPDA_HUMAN	124	E	K	Polymorphism	-
P21695	GPDA_HUMAN	229	R	P	Disease	Hypertriglyceridemia, transient infantile (HTGTI) [MIM:614480]
P21695	GPDA_HUMAN	223	T	I	Polymorphism	-
P21695	GPDA_HUMAN	54	I	V	Polymorphism	-
P21709	EPHA1_HUMAN	492	R	Q	Polymorphism	-
P21709	EPHA1_HUMAN	351	R	C	Polymorphism	-
P21709	EPHA1_HUMAN	160	V	A	Polymorphism	-
P21709	EPHA1_HUMAN	703	E	K	Unclassified	A breast pleomorphic lobular carcinoma sample
P21709	EPHA1_HUMAN	575	R	Q	Polymorphism	-
P21709	EPHA1_HUMAN	585	A	T	Polymorphism	-
P21709	EPHA1_HUMAN	900	M	V	Polymorphism	-
P21709	EPHA1_HUMAN	807	S	R	Polymorphism	-
P21709	EPHA1_HUMAN	697	P	L	Polymorphism	-
P21728	DRD1_HUMAN	37	T	R	Polymorphism	-
P21728	DRD1_HUMAN	259	S	Y	Polymorphism	-
P21728	DRD1_HUMAN	199	S	A	Polymorphism	-
P21728	DRD1_HUMAN	37	T	P	Polymorphism	-
P21728	DRD1_HUMAN	50	R	S	Polymorphism	-
P21728	DRD1_HUMAN	81	K	R	Polymorphism	-
P21730	C5AR1_HUMAN	2	D	N	Polymorphism	-
P21730	C5AR1_HUMAN	279	K	N	Polymorphism	-
P21731	TA2R_HUMAN	68	C	S	Polymorphism	-
P21731	TA2R_HUMAN	60	R	L	Disease	Bleeding disorder, platelet-type 13 (BDPLT13) [MIM:614009]
P21731	TA2R_HUMAN	217	V	I	Polymorphism	-
P21731	TA2R_HUMAN	80	V	E	Polymorphism	-
P21731	TA2R_HUMAN	160	A	T	Polymorphism	-
P21731	TA2R_HUMAN	94	E	V	Polymorphism	-
P21731	TA2R_HUMAN	176	V	E	Polymorphism	-
P21754	ZP3_HUMAN	134	A	T	Disease	Oocyte maturation defect 3 (OOMD3) [MIM:617712]
P21754	ZP3_HUMAN	340	M	V	Polymorphism	-
P21754	ZP3_HUMAN	31	G	R	Polymorphism	-
P21754	ZP3_HUMAN	315	S	P	Polymorphism	-
P21757	MSRE_HUMAN	441	H	R	Polymorphism	-
P21757	MSRE_HUMAN	36	P	A	Polymorphism	-
P21757	MSRE_HUMAN	23	F	C	Polymorphism	-
P21757	MSRE_HUMAN	369	G	S	Polymorphism	-
P21757	MSRE_HUMAN	41	S	Y	Polymorphism	-
P21757	MSRE_HUMAN	275	P	A	Polymorphism	-
P21757	MSRE_HUMAN	269	T	I	Polymorphism	-
P21757	MSRE_HUMAN	174	D	Y	Polymorphism	-
P21757	MSRE_HUMAN	254	L	V	Polymorphism	-
P21757	MSRE_HUMAN	113	V	A	Polymorphism	-
P21781	FGF7_HUMAN	59	M	T	Polymorphism	-
P21781	FGF7_HUMAN	62	G	E	Polymorphism	-
P21802	FGFR2_HUMAN	276	F	V	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	272	G	V	Unclassified	An ovarian serous carcinoma sample
P21802	FGFR2_HUMAN	341	T	P	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	267	S	P	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	278	C	F	Disease	Jackson-Weiss syndrome (JWS) [MIM:123150]
P21802	FGFR2_HUMAN	203	R	C	Unclassified	Breast cancer samples
P21802	FGFR2_HUMAN	290	W	R	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	289	Q	P	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	612	R	T	Unclassified	A lung adenocarcinoma sample
P21802	FGFR2_HUMAN	278	C	F	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	391	M	R	Disease	Bent bone dysplasia syndrome (BBDS) [MIM:614592]
P21802	FGFR2_HUMAN	340	Y	C	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	338	G	E	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	252	S	W	Disease	Apert syndrome (APRS) [MIM:101200]
P21802	FGFR2_HUMAN	289	Q	P	Disease	Jackson-Weiss syndrome (JWS) [MIM:123150]
P21802	FGFR2_HUMAN	359	V	F	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	278	C	F	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	354	S	C	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	342	C	R	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	381	Y	D	Disease	Bent bone dysplasia syndrome (BBDS) [MIM:614592]
P21802	FGFR2_HUMAN	342	C	S	Disease	Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410]
P21802	FGFR2_HUMAN	57	S	L	Polymorphism	-
P21802	FGFR2_HUMAN	628	A	T	Disease	Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
P21802	FGFR2_HUMAN	344	A	G	Disease	Jackson-Weiss syndrome (JWS) [MIM:123150]
P21802	FGFR2_HUMAN	290	W	C	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	172	A	F	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	105	Y	C	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	252	S	F	Disease	Apert syndrome (APRS) [MIM:101200]
P21802	FGFR2_HUMAN	341	T	P	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	375	Y	C	Disease	Beare-Stevenson cutis gyrata syndrome (BSTVS) [MIM:123790]
P21802	FGFR2_HUMAN	351	S	C	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	342	C	W	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	186	M	T	Polymorphism	-
P21802	FGFR2_HUMAN	292	K	E	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	283	D	N	Unclassified	A lung squamous cell carcinoma sample
P21802	FGFR2_HUMAN	340	Y	H	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	678	R	G	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	253	P	R	Disease	Apert syndrome (APRS) [MIM:101200]
P21802	FGFR2_HUMAN	641	K	R	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	252	S	L	Polymorphism	-
P21802	FGFR2_HUMAN	565	E	G	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	659	K	N	Unclassified	-
P21802	FGFR2_HUMAN	328	Y	C	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	278	C	Y	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	351	S	C	Disease	Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410]
P21802	FGFR2_HUMAN	375	Y	C	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	342	C	F	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	321	D	A	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	252	S	W	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	344	A	P	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	362	A	S	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	549	N	H	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	314	A	S	Unclassified	-
P21802	FGFR2_HUMAN	331	N	I	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	342	C	Y	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	347	S	C	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	344	A	P	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	344	A	G	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	342	C	R	Disease	Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410]
P21802	FGFR2_HUMAN	6	R	P	Polymorphism	-
P21802	FGFR2_HUMAN	338	G	R	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	663	G	E	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	301	Y	C	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	342	C	S	Disease	Jackson-Weiss syndrome (JWS) [MIM:123150]
P21802	FGFR2_HUMAN	342	C	R	Disease	Jackson-Weiss syndrome (JWS) [MIM:123150]
P21802	FGFR2_HUMAN	337	A	P	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	342	C	S	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	315	A	S	Polymorphism	-
P21802	FGFR2_HUMAN	263	P	L	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	342	C	S	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	359	V	F	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	351	S	C	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	342	C	R	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	354	S	Y	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	648	A	T	Disease	Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
P21802	FGFR2_HUMAN	526	K	E	Disease	Familial scaphocephaly syndrome (FSPC) [MIM:609579]
P21802	FGFR2_HUMAN	288	I	S	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	384	G	R	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	372	S	C	Disease	Beare-Stevenson cutis gyrata syndrome (BSTVS) [MIM:123790]
P21802	FGFR2_HUMAN	281	Y	C	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	342	C	Y	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21802	FGFR2_HUMAN	613	G	R	Polymorphism	-
P21802	FGFR2_HUMAN	290	W	G	Disease	Crouzon syndrome (CS) [MIM:123500]
P21802	FGFR2_HUMAN	342	C	G	Disease	Pfeiffer syndrome (PS) [MIM:101600]
P21810	PGS1_HUMAN	80	G	S	Unclassified	Meester-Loeys syndrome (MRLS) [MIM:300989]
P21810	PGS1_HUMAN	266	R	T	Unclassified	A breast cancer sample
P21810	PGS1_HUMAN	288	K	N	Unclassified	A breast cancer sample
P21810	PGS1_HUMAN	259	G	V	Disease	Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106]
P21810	PGS1_HUMAN	147	K	E	Disease	Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106]
P21810	PGS1_HUMAN	303	Q	P	Unclassified	Meester-Loeys syndrome (MRLS) [MIM:300989]
P21815	SIAL_HUMAN	268	A	V	Polymorphism	-
P21815	SIAL_HUMAN	270	E	D	Polymorphism	-
P21815	SIAL_HUMAN	195	G	E	Polymorphism	-
P21815	SIAL_HUMAN	219	R	G	Polymorphism	-
P21815	SIAL_HUMAN	256	T	A	Polymorphism	-
P21815	SIAL_HUMAN	213	D	G	Polymorphism	-
P21817	RYR1_HUMAN	13	L	V	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	44	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	177	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	227	D	V	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2423	M	K	Disease	Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]
P21817	RYR1_HUMAN	4793	L	P	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	328	R	W	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	166	D	N	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4938	I	T	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	401	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	3756	Q	E	Polymorphism	-
P21817	RYR1_HUMAN	4898	I	T	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4796	Y	C	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	3366	R	H	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	163	R	L	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	178	Y	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1088	Y	C	Disease	-
P21817	RYR1_HUMAN	44	R	C	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	160	E	G	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4864	Y	C	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4861	R	C	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	1679	R	H	Polymorphism	-
P21817	RYR1_HUMAN	215	G	E	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2204	H	Q	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	382	H	N	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	3326	N	K	Disease	Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]
P21817	RYR1_HUMAN	2206	T	M	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	402	M	T	Disease	Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]
P21817	RYR1_HUMAN	4501	P	L	Polymorphism	-
P21817	RYR1_HUMAN	4493	P	A	Polymorphism	-
P21817	RYR1_HUMAN	4893	R	W	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4897	G	V	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2163	R	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4893	R	Q	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	3118	A	V	Polymorphism	-
P21817	RYR1_HUMAN	2880	E	K	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1058	E	K	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	165	G	R	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	3527	P	S	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4861	R	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2437	A	V	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4737	R	W	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2458	R	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	3933	Y	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	403	I	M	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2035	H	L	Disease	Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]
P21817	RYR1_HUMAN	2508	R	G	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	1489	S	N	Polymorphism	-
P21817	RYR1_HUMAN	2452	R	W	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	3933	Y	C	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2163	R	P	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2593	R	G	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2435	R	L	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2423	M	K	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2454	R	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2117	V	L	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4939	D	E	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1393	K	R	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4743	G	D	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	163	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4899	G	R	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	163	R	C	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4891	G	R	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4724	K	Q	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2454	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1342	S	G	Polymorphism	-
P21817	RYR1_HUMAN	2435	R	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	3290	E	K	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2550	L	V	Polymorphism	-
P21817	RYR1_HUMAN	2206	T	R	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4668	P	S	Polymorphism	-
P21817	RYR1_HUMAN	4637	T	A	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2676	R	W	Polymorphism	-
P21817	RYR1_HUMAN	2787	T	S	Polymorphism	-
P21817	RYR1_HUMAN	3772	R	W	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4914	R	T	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4861	R	H	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2168	V	M	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2435	R	H	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	3217	S	P	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2168	V	M	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	485	M	V	Polymorphism	-
P21817	RYR1_HUMAN	1704	G	S	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2350	A	T	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4940	A	T	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	248	G	R	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	341	G	R	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	35	C	R	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	3772	R	Q	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4899	G	E	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4914	R	G	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	614	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1109	R	K	Polymorphism	-
P21817	RYR1_HUMAN	2434	G	R	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	533	R	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2342	N	S	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4846	A	V	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	3402	C	G	Disease	Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]
P21817	RYR1_HUMAN	4651	H	P	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	3539	R	H	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4234	V	L	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2627	V	M	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4136	R	S	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4876	K	R	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2060	G	C	Polymorphism	-
P21817	RYR1_HUMAN	1056	D	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1352	A	G	Polymorphism	-
P21817	RYR1_HUMAN	1043	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	3806	G	R	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2346	V	M	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	3583	E	Q	Polymorphism	-
P21817	RYR1_HUMAN	4737	R	Q	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4638	G	D	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4849	V	I	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4637	T	I	Polymorphism	-
P21817	RYR1_HUMAN	4938	I	M	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	3916	I	M	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4942	G	V	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2421	A	P	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4906	A	V	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	3238	E	G	Unclassified	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	109	R	W	Disease	Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]
P21817	RYR1_HUMAN	1832	G	A	Polymorphism	-
P21817	RYR1_HUMAN	2348	E	G	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2458	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4897	G	A	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2730	D	G	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2248	R	H	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4650	L	P	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4178	G	V	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4558	R	Q	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	4973	P	L	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2431	D	N	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1787	P	L	Polymorphism	-
P21817	RYR1_HUMAN	3501	D	Y	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	3360	P	Q	Polymorphism	-
P21817	RYR1_HUMAN	3711	T	R	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4849	V	I	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2400	D	G	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1127	R	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4684	F	S	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2358	I	L	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4824	L	P	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4838	L	V	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	614	R	C	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	291	A	T	Polymorphism	-
P21817	RYR1_HUMAN	2383	A	Q	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2336	R	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2248	R	C	Polymorphism	-
P21817	RYR1_HUMAN	2344	E	D	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4882	T	M	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	3410	P	Q	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	533	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2375	G	A	Polymorphism	-
P21817	RYR1_HUMAN	2428	A	T	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	13	L	R	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4825	R	C	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2509	V	I	Polymorphism	-
P21817	RYR1_HUMAN	2280	V	I	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2321	I	V	Polymorphism	-
P21817	RYR1_HUMAN	1109	R	L	Polymorphism	-
P21817	RYR1_HUMAN	4842	V	M	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2508	R	C	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	522	Y	S	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2404	E	K	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4230	M	R	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1571	I	V	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2163	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2963	L	P	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2351	N	H	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	530	R	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4837	Q	E	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2976	H	Y	Polymorphism	-
P21817	RYR1_HUMAN	705	G	R	Disease	-
P21817	RYR1_HUMAN	2508	R	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4826	T	I	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2163	R	H	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	552	R	W	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2129	D	E	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2101	M	K	Polymorphism	-
P21817	RYR1_HUMAN	544	D	Y	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	367	R	L	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	401	R	H	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4906	A	G	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4806	N	D	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	401	R	S	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	975	R	W	Unclassified	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	403	I	M	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	226	M	K	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1043	R	H	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2367	A	T	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2354	V	M	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	4814	L	F	Disease	Central core disease of muscle (CCD) [MIM:117000]
P21817	RYR1_HUMAN	2214	V	I	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2013	K	Q	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2508	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2355	R	C	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	487	L	P	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1467	K	R	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	614	R	L	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	471	R	C	Polymorphism	-
P21817	RYR1_HUMAN	974	V	M	Polymorphism	-
P21817	RYR1_HUMAN	522	Y	S	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	899	N	K	Polymorphism	-
P21817	RYR1_HUMAN	40	G	A	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	518	V	A	Unclassified	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	1056	D	N	Disease	Malignant hyperthermia 1 (MHS1) [MIM:145600]
P21817	RYR1_HUMAN	2779	E	K	Polymorphism	-
P21854	CD72_HUMAN	234	P	L	Polymorphism	-
P21860	ERBB3_HUMAN	1254	T	K	Polymorphism	-
P21860	ERBB3_HUMAN	20	S	Y	Polymorphism	-
P21860	ERBB3_HUMAN	1127	R	H	Polymorphism	-
P21860	ERBB3_HUMAN	683	R	W	Polymorphism	-
P21860	ERBB3_HUMAN	1337	A	T	Disease	Erythroleukemia, familial (FERLK) [MIM:133180]
P21860	ERBB3_HUMAN	104	V	M	Unclassified	An ovarian mucinous carcinoma sample
P21860	ERBB3_HUMAN	385	N	S	Polymorphism	-
P21860	ERBB3_HUMAN	744	I	T	Polymorphism	-
P21860	ERBB3_HUMAN	1271	G	S	Polymorphism	-
P21860	ERBB3_HUMAN	998	K	R	Polymorphism	-
P21860	ERBB3_HUMAN	204	T	I	Polymorphism	-
P21860	ERBB3_HUMAN	1177	L	I	Polymorphism	-
P21860	ERBB3_HUMAN	1119	S	C	Polymorphism	-
P21860	ERBB3_HUMAN	717	S	L	Polymorphism	-
P21860	ERBB3_HUMAN	30	P	L	Polymorphism	-
P21912	SDHB_HUMAN	46	R	Q	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	100	S	F	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	242	R	H	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	163	S	P	Unclassified	-
P21912	SDHB_HUMAN	127	I	N	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	43	A	P	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	46	R	Q	Disease	Paragangliomas 4 (PGL4) [MIM:115310]
P21912	SDHB_HUMAN	53	G	R	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	65	L	H	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	192	C	R	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	46	R	G	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	196	C	Y	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	230	R	C	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	40	K	E	Polymorphism	-
P21912	SDHB_HUMAN	132	H	P	Disease	Paragangliomas 4 (PGL4) [MIM:115310]
P21912	SDHB_HUMAN	101	C	Y	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	3	A	G	Unclassified	-
P21912	SDHB_HUMAN	242	R	H	Disease	Paragangliomas 4 (PGL4) [MIM:115310]
P21912	SDHB_HUMAN	65	L	P	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	87	L	S	Disease	Pheochromocytoma (PCC) [MIM:171300]
P21912	SDHB_HUMAN	131	P	R	Disease	Paragangliomas 4 (PGL4) [MIM:115310]
P21912	SDHB_HUMAN	197	P	R	Disease	Paragangliomas 4 (PGL4) [MIM:115310]
P21917	DRD4_HUMAN	194	V	G	Polymorphism	-
P21918	DRD5_HUMAN	62	C	S	Polymorphism	-
P21918	DRD5_HUMAN	233	S	N	Polymorphism	-
P21918	DRD5_HUMAN	238	V	I	Polymorphism	-
P21918	DRD5_HUMAN	297	T	P	Polymorphism	-
P21918	DRD5_HUMAN	286	A	V	Polymorphism	-
P21918	DRD5_HUMAN	207	F	V	Polymorphism	-
P21918	DRD5_HUMAN	269	A	V	Polymorphism	-
P21918	DRD5_HUMAN	88	L	R	Polymorphism	-
P21918	DRD5_HUMAN	330	P	Q	Polymorphism	-
P21918	DRD5_HUMAN	110	G	E	Polymorphism	-
P21918	DRD5_HUMAN	453	S	C	Polymorphism	-
P21918	DRD5_HUMAN	351	N	D	Polymorphism	-
P21953	ODBB_HUMAN	206	H	R	Disease	Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
P21953	ODBB_HUMAN	41	T	I	Polymorphism	-
P21953	ODBB_HUMAN	170	R	H	Disease	Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
P21953	ODBB_HUMAN	346	Q	R	Disease	Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
P21953	ODBB_HUMAN	278	G	S	Disease	Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
P21953	ODBB_HUMAN	183	R	P	Disease	Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
P21964	COMT_HUMAN	34	C	S	Polymorphism	-
P21964	COMT_HUMAN	158	V	M	Polymorphism	-
P21964	COMT_HUMAN	72	A	S	Polymorphism	-
P21964	COMT_HUMAN	102	A	T	Polymorphism	-
P21964	COMT_HUMAN	146	A	V	Polymorphism	-
P21980	TGM2_HUMAN	76	R	H	Polymorphism	-
P21980	TGM2_HUMAN	214	R	H	Polymorphism	-
P21980	TGM2_HUMAN	536	P	S	Polymorphism	-
P21980	TGM2_HUMAN	436	R	W	Polymorphism	-
P21980	TGM2_HUMAN	324	Q	R	Polymorphism	-
P21980	TGM2_HUMAN	660	G	V	Unclassified	A colorectal cancer sample
P21980	TGM2_HUMAN	331	I	N	Unclassified	-
P21980	TGM2_HUMAN	330	M	R	Unclassified	-
P22003	BMP5_HUMAN	121	N	S	Polymorphism	-
P22003	BMP5_HUMAN	2	H	Y	Polymorphism	-
P22004	BMP6_HUMAN	343	A	D	Unclassified	A colorectal cancer sample
P22004	BMP6_HUMAN	476	P	L	Unclassified	A colorectal cancer sample
P22004	BMP6_HUMAN	257	R	C	Polymorphism	-
P22033	MUTA_HUMAN	723	G	D	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	597	I	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	368	V	D	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	424	P	L	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	694	R	W	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	426	G	E	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	231	Y	N	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	625	D	G	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	678	H	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	309	W	G	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	736	L	F	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	674	L	F	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	228	R	Q	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	630	G	E	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	189	N	I	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	514	Q	K	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	626	G	C	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	685	L	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	141	A	T	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	625	D	V	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	191	A	E	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	532	R	H	Polymorphism	-
P22033	MUTA_HUMAN	633	V	G	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	108	R	H	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	377	A	E	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	369	R	H	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	671	I	V	Polymorphism	-
P22033	MUTA_HUMAN	623	G	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	143	H	Y	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	161	G	V	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	328	L	F	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	156	D	V	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	133	G	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	552	A	V	Unclassified	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	105	W	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	717	G	V	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	312	G	V	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	514	Q	E	Unclassified	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	648	G	D	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	669	V	E	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	276	E	D	Unclassified	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	284	G	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	230	T	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	284	G	E	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	161	G	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	174	F	S	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	158	G	V	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	618	L	P	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	505	I	T	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	366	N	S	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	692	L	P	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	454	G	E	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	388	N	K	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	137	A	G	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	615	P	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	325	G	D	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	598	T	A	Polymorphism	-
P22033	MUTA_HUMAN	126	N	K	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	262	S	N	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	137	A	V	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	156	D	N	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	140	L	P	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	93	R	H	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	215	G	S	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	293	Q	P	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	387	T	I	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	637	G	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	344	S	F	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	326	R	K	Unclassified	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	386	H	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	230	T	I	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	94	G	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	694	R	L	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	203	G	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	218	Q	H	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	215	G	C	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	197	A	E	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	388	N	H	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	615	P	L	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	288	S	P	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	358	L	P	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	100	Y	C	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	187	T	S	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	383	Q	H	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	139	D	N	Unclassified	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	560	C	Y	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	518	L	P	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	148	S	L	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	324	A	T	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	306	S	F	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	364	Y	S	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	108	R	C	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	703	G	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	109	Q	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	642	G	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	145	G	S	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	87	G	E	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	587	Y	C	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	281	L	S	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	426	G	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	94	G	V	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	110	Y	C	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	219	N	Y	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	573	F	S	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	350	H	Y	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	638	F	I	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	95	P	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	627	H	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	316	Y	C	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	328	L	P	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	700	M	K	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	265	H	Y	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	566	T	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	427	G	D	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	186	M	V	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	369	R	C	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	108	R	G	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	383	Q	P	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	386	H	N	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	86	P	L	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	637	G	E	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	621	K	N	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	624	Q	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	616	R	C	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	189	N	K	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	370	T	P	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	305	L	S	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	617	L	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	347	L	R	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	640	D	Y	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	615	P	T	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	499	A	T	Polymorphism	-
P22033	MUTA_HUMAN	291	G	E	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	69	I	V	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22033	MUTA_HUMAN	535	A	P	Disease	Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P22059	OSBP1_HUMAN	278	D	A	Unclassified	A colorectal cancer sample
P22061	PIMT_HUMAN	120	V	I	Polymorphism	-
P22079	PERL_HUMAN	421	V	M	Polymorphism	-
P22079	PERL_HUMAN	514	R	Q	Polymorphism	-
P22079	PERL_HUMAN	614	I	T	Polymorphism	-
P22079	PERL_HUMAN	414	R	Q	Polymorphism	-
P22079	PERL_HUMAN	244	A	T	Polymorphism	-
P22079	PERL_HUMAN	700	D	N	Polymorphism	-
P22079	PERL_HUMAN	105	T	I	Polymorphism	-
P22083	FUT4_HUMAN	255	I	V	Polymorphism	-
P22102	PUR2_HUMAN	421	V	I	Polymorphism	-
P22102	PUR2_HUMAN	21	L	F	Polymorphism	-
P22102	PUR2_HUMAN	641	P	A	Polymorphism	-
P22102	PUR2_HUMAN	752	D	G	Polymorphism	-
P22102	PUR2_HUMAN	510	D	G	Polymorphism	-
P22105	TENX_HUMAN	1108	V	M	Disease	Ehlers-Danlos syndrome, classic-like (EDSCLL) [MIM:606408]
P22105	TENX_HUMAN	2363	P	H	Polymorphism	-
P22105	TENX_HUMAN	2301	P	H	Polymorphism	-
P22105	TENX_HUMAN	1244	T	R	Disease	Vesicoureteral reflux 8 (VUR8) [MIM:615963]
P22105	TENX_HUMAN	2412	P	L	Polymorphism	-
P22105	TENX_HUMAN	1905	E	K	Polymorphism	-
P22105	TENX_HUMAN	1161	H	R	Polymorphism	-
P22105	TENX_HUMAN	511	R	H	Polymorphism	-
P22105	TENX_HUMAN	29	R	W	Disease	Ehlers-Danlos syndrome, classic-like (EDSCLL) [MIM:606408]
P22105	TENX_HUMAN	650	R	H	Polymorphism	-
P22105	TENX_HUMAN	3212	V	I	Disease	Vesicoureteral reflux 8 (VUR8) [MIM:615963]
P22105	TENX_HUMAN	873	S	A	Polymorphism	-
P22105	TENX_HUMAN	3988	L	I	Polymorphism	-
P22105	TENX_HUMAN	641	G	C	Polymorphism	-
P22105	TENX_HUMAN	302	T	A	Polymorphism	-
P22105	TENX_HUMAN	2518	G	E	Polymorphism	-
P22105	TENX_HUMAN	2495	G	S	Polymorphism	-
P22105	TENX_HUMAN	4074	R	C	Disease	Ehlers-Danlos syndrome, classic-like (EDSCLL) [MIM:606408]
P22223	CADH3_HUMAN	237	V	M	Polymorphism	-
P22223	CADH3_HUMAN	477	R	H	Polymorphism	-
P22223	CADH3_HUMAN	322	N	I	Disease	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS) [MIM:225280]
P22223	CADH3_HUMAN	503	R	H	Disease	Hypotrichosis congenital with juvenile macular dystrophy (HJMD) [MIM:601553]
P22223	CADH3_HUMAN	563	Q	H	Polymorphism	-
P22234	PUR6_HUMAN	201	K	N	Polymorphism	-
P22301	IL10_HUMAN	15	G	R	Polymorphism	-
P22303	ACES_HUMAN	353	H	N	Polymorphism	-
P22303	ACES_HUMAN	135	P	A	Polymorphism	-
P22303	ACES_HUMAN	34	R	Q	Polymorphism	-
P22303	ACES_HUMAN	333	V	E	Polymorphism	-
P22304	IDS_HUMAN	88	R	G	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	422	C	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	95	R	T	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	347	K	Q	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	108	Y	S	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	89	V	F	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	95	R	G	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	264	Y	N	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	523	Y	C	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	341	E	K	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	121	Q	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	480	P	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	410	L	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	334	D	G	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	229	H	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	491	S	F	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	54	Y	D	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	45	D	N	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	265	N	I	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	85	A	S	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	92	L	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	347	K	T	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	205	A	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	490	Y	S	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	181	N	I	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	182	L	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	313	R	C	Unclassified	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	465	Q	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	231	P	L	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	521	E	V	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	41	L	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	342	H	Y	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	138	H	D	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	71	S	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	82	A	E	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	468	R	Q	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	227	K	M	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	308	D	N	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	121	Q	H	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	82	A	V	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	68	A	E	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	358	P	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	480	P	Q	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	346	A	V	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	468	R	W	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	86	P	Q	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	148	D	H	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	71	S	N	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	86	P	L	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	348	Y	H	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	102	L	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	485	I	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	314	L	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	132	S	W	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	422	C	G	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	468	R	G	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	228	P	T	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	349	S	I	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	336	G	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	117	S	Y	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	140	G	V	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	221	L	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	502	W	C	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	467	P	L	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	434	E	K	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	88	R	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	339	L	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	403	L	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	333	S	L	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	478	D	G	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	336	G	E	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	115	N	Y	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	259	L	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	73	L	F	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	79	A	E	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	299	S	I	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	334	D	N	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	48	R	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	309	T	A	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	432	C	Y	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	63	N	D	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	229	H	Y	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	347	K	I	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	196	L	S	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	227	K	Q	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	469	P	H	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	308	D	E	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	335	H	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	108	Y	C	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	468	R	L	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	86	P	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	346	A	D	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	94	G	D	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	225	Y	D	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	269	D	V	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	480	P	L	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	85	A	T	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	120	P	H	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	252	D	N	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	228	P	L	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	266	P	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	88	R	L	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	224	G	E	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	266	P	H	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	88	R	H	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	160	P	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	340	G	D	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	143	S	F	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	184	C	W	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	345	W	C	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	485	I	K	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	135	K	N	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	521	E	K	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	120	P	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	502	W	S	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	134	G	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	478	D	Y	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	125	E	V	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	88	R	C	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	337	W	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	184	C	F	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	87	S	N	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	118	T	I	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	293	Q	H	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	159	H	P	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	198	D	G	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304	IDS_HUMAN	135	K	R	Disease	Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22307	NLTP_HUMAN	155	A	D	Unclassified	A breast cancer sample
P22309	UD11_HUMAN	400	N	D	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	331	Q	R	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	291	E	V	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	511	A	P	Polymorphism	-
P22309	UD11_HUMAN	336	R	Q	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	71	G	R	Disease	Transient familial neonatal hyperbilirubinemia (HBLRTFN) [MIM:237900]
P22309	UD11_HUMAN	354	W	R	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	294	I	T	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	225	V	G	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	336	R	W	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	367	R	G	Disease	Gilbert syndrome (GILBS) [MIM:143500]
P22309	UD11_HUMAN	308	G	E	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	83	F	L	Disease	Gilbert syndrome (GILBS) [MIM:143500]
P22309	UD11_HUMAN	486	Y	D	Disease	Transient familial neonatal hyperbilirubinemia (HBLRTFN) [MIM:237900]
P22309	UD11_HUMAN	403	R	C	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	292	A	V	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	276	G	R	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	177	C	R	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	370	I	V	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	39	H	D	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	294	I	T	Disease	Gilbert syndrome (GILBS) [MIM:143500]
P22309	UD11_HUMAN	486	Y	D	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	357	Q	R	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	376	H	R	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	387	P	H	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	191	S	F	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	461	W	R	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	428	K	E	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	376	H	R	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	175	L	Q	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	209	R	W	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	336	R	L	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	34	P	Q	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	71	G	R	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	279	N	Y	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	443	L	P	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	377	G	V	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	377	G	V	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	368	A	T	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	401	A	P	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	336	R	L	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	375	S	F	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	229	P	Q	Disease	Gilbert syndrome (GILBS) [MIM:143500]
P22309	UD11_HUMAN	15	L	R	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	387	P	S	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	461	W	R	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	71	G	R	Disease	Gilbert syndrome (GILBS) [MIM:143500]
P22309	UD11_HUMAN	478	A	D	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	395	G	V	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	36	D	N	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	229	P	Q	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	230	Y	C	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	367	R	C	Disease	Crigler-Najjar syndrome 2 (CN2) [MIM:606785]
P22309	UD11_HUMAN	486	Y	D	Disease	Gilbert syndrome (GILBS) [MIM:143500]
P22309	UD11_HUMAN	381	S	R	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22309	UD11_HUMAN	402	K	T	Disease	Crigler-Najjar syndrome 1 (CN1) [MIM:218800]
P22310	UD14_HUMAN	11	R	W	Polymorphism	-
P22310	UD14_HUMAN	24	P	T	Polymorphism	-
P22310	UD14_HUMAN	176	I	F	Polymorphism	-
P22310	UD14_HUMAN	48	L	V	Polymorphism	-
P22310	UD14_HUMAN	68	H	Y	Polymorphism	-
P22314	UBA1_HUMAN	447	R	H	Polymorphism	-
P22314	UBA1_HUMAN	547	S	G	Disease	Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]
P22314	UBA1_HUMAN	539	M	I	Disease	Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]
P22314	UBA1_HUMAN	557	E	V	Disease	Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]
P22352	GPX3_HUMAN	128	F	L	Polymorphism	-
P22413	ENPP1_HUMAN	579	L	F	Unclassified	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	668	E	K	Polymorphism	-
P22413	ENPP1_HUMAN	901	Y	S	Disease	Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312]
P22413	ENPP1_HUMAN	305	P	T	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	513	Y	C	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	342	G	V	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	216	S	Y	Unclassified	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	371	Y	F	Unclassified	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	804	D	H	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	659	Y	C	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	886	R	T	Polymorphism	-
P22413	ENPP1_HUMAN	779	T	P	Polymorphism	-
P22413	ENPP1_HUMAN	250	P	L	Unclassified	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	349	R	K	Unclassified	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	792	N	S	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	821	R	H	Polymorphism	-
P22413	ENPP1_HUMAN	120	C	R	Disease	Cole disease (COLED) [MIM:615522]
P22413	ENPP1_HUMAN	611	L	V	Polymorphism	-
P22413	ENPP1_HUMAN	268	Y	H	Polymorphism	-
P22413	ENPP1_HUMAN	242	G	E	Unclassified	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	219	G	R	Unclassified	Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312]
P22413	ENPP1_HUMAN	888	R	W	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	777	H	R	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	266	G	V	Disease	Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312]
P22413	ENPP1_HUMAN	504	S	R	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	91	L	P	Disease	Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]
P22413	ENPP1_HUMAN	218	D	V	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	92	G	D	Disease	Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312]
P22413	ENPP1_HUMAN	195	C	R	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	276	D	N	Unclassified	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	774	R	C	Polymorphism	-
P22413	ENPP1_HUMAN	173	K	Q	Polymorphism	-
P22413	ENPP1_HUMAN	126	C	R	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	301	Y	C	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	481	R	W	Unclassified	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	177	C	Y	Disease	Cole disease (COLED) [MIM:615522]
P22413	ENPP1_HUMAN	177	C	S	Disease	Cole disease (COLED) [MIM:615522]
P22413	ENPP1_HUMAN	471	Y	C	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	570	Y	C	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	792	N	S	Disease	Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312]
P22413	ENPP1_HUMAN	287	S	F	Disease	Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]
P22413	ENPP1_HUMAN	726	C	R	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	538	D	H	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	179	N	S	Polymorphism	-
P22413	ENPP1_HUMAN	456	R	Q	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	500	H	P	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	195	C	S	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22413	ENPP1_HUMAN	133	C	R	Disease	Cole disease (COLED) [MIM:615522]
P22413	ENPP1_HUMAN	164	C	S	Disease	Cole disease (COLED) [MIM:615522]
P22413	ENPP1_HUMAN	149	C	S	Disease	Cole disease (COLED) [MIM:615522]
P22413	ENPP1_HUMAN	586	G	R	Disease	Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]
P22455	FGFR4_HUMAN	516	D	N	Polymorphism	-
P22455	FGFR4_HUMAN	179	T	A	Polymorphism	-
P22455	FGFR4_HUMAN	529	R	Q	Polymorphism	-
P22455	FGFR4_HUMAN	426	G	S	Polymorphism	-
P22455	FGFR4_HUMAN	136	P	L	Polymorphism	-
P22455	FGFR4_HUMAN	772	S	N	Unclassified	A lung neuroendocrine carcinoma sample
P22455	FGFR4_HUMAN	388	G	R	Disease	Prostate cancer (PC) [MIM:176807]
P22455	FGFR4_HUMAN	712	P	T	Unclassified	A lung adenocarcinoma sample
P22455	FGFR4_HUMAN	550	V	M	Polymorphism	-
P22455	FGFR4_HUMAN	10	V	I	Polymorphism	-
P22459	KCNA4_HUMAN	89	R	Q	Unclassified	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum (MCIDDS) [MIM:618284]
P22460	KCNA5_HUMAN	184	R	P	Unclassified	-
P22460	KCNA5_HUMAN	170	P	R	Unclassified	-
P22460	KCNA5_HUMAN	578	R	K	Polymorphism	-
P22460	KCNA5_HUMAN	228	P	S	Polymorphism	-
P22460	KCNA5_HUMAN	300	G	S	Unclassified	A breast cancer sample
P22460	KCNA5_HUMAN	114	T	P	Unclassified	-
P22460	KCNA5_HUMAN	85	L	M	Polymorphism	-
P22460	KCNA5_HUMAN	42	L	H	Unclassified	-
P22466	GALA_HUMAN	16	A	V	Polymorphism	-
P22466	GALA_HUMAN	39	A	E	Disease	Epilepsy, familial temporal lobe, 8 (ETL8) [MIM:616461]
P22492	H1T_HUMAN	14	V	L	Polymorphism	-
P22492	H1T_HUMAN	52	L	F	Polymorphism	-
P22492	H1T_HUMAN	178	Q	K	Polymorphism	-
P22528	SPR1B_HUMAN	23	Q	H	Polymorphism	-
P22528	SPR1B_HUMAN	80	A	P	Polymorphism	-
P22528	SPR1B_HUMAN	61	V	L	Polymorphism	-
P22528	SPR1B_HUMAN	11	T	I	Polymorphism	-
P22532	SPR2D_HUMAN	20	T	A	Polymorphism	-
P22557	HEM0_HUMAN	339	P	L	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	301	V	A	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	375	R	C	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	520	P	L	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	586	Y	F	Polymorphism	-
P22557	HEM0_HUMAN	170	R	C	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	452	R	G	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	159	D	Y	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	263	D	N	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	165	F	L	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	517	R	G	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	204	R	Q	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	452	R	C	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	156	K	E	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	452	R	H	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	572	R	H	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	170	R	H	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	242	E	K	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	218	R	H	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	199	Y	H	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	560	R	H	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	388	T	S	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	476	I	N	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	448	R	Q	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	411	R	H	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22557	HEM0_HUMAN	411	R	C	Disease	Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
P22570	ADRO_HUMAN	327	R	S	Disease	Auditory neuropathy and optic atrophy (ANOA) [MIM:617717]
P22570	ADRO_HUMAN	472	T	A	Polymorphism	-
P22570	ADRO_HUMAN	301	R	C	Polymorphism	-
P22570	ADRO_HUMAN	352	P	S	Polymorphism	-
P22570	ADRO_HUMAN	242	R	W	Disease	Auditory neuropathy and optic atrophy (ANOA) [MIM:617717]
P22570	ADRO_HUMAN	345	T	M	Polymorphism	-
P22570	ADRO_HUMAN	306	R	C	Disease	Auditory neuropathy and optic atrophy (ANOA) [MIM:617717]
P22570	ADRO_HUMAN	248	P	L	Polymorphism	-
P22570	ADRO_HUMAN	251	R	W	Polymorphism	-
P22570	ADRO_HUMAN	7	R	L	Polymorphism	-
P22570	ADRO_HUMAN	213	G	V	Polymorphism	-
P22570	ADRO_HUMAN	215	L	V	Disease	Auditory neuropathy and optic atrophy (ANOA) [MIM:617717]
P22570	ADRO_HUMAN	123	R	Q	Polymorphism	-
P22607	FGFR3_HUMAN	650	K	E	Disease	Keratosis, seborrheic (KERSEB) [MIM:182000]
P22607	FGFR3_HUMAN	540	N	T	Disease	Hypochondroplasia (HCH) [MIM:146000]
P22607	FGFR3_HUMAN	650	K	M	Disease	Achondroplasia (ACH) [MIM:100800]
P22607	FGFR3_HUMAN	228	C	R	Unclassified	A colorectal adenocarcinoma sample
P22607	FGFR3_HUMAN	621	R	H	Disease	Camptodactyly, tall stature, and hearing loss syndrome (CATSHLS) [MIM:610474]
P22607	FGFR3_HUMAN	249	S	C	Disease	Bladder cancer (BLC) [MIM:109800]
P22607	FGFR3_HUMAN	540	N	K	Disease	Hypochondroplasia (HCH) [MIM:146000]
P22607	FGFR3_HUMAN	338	T	M	Polymorphism	-
P22607	FGFR3_HUMAN	717	A	T	Polymorphism	-
P22607	FGFR3_HUMAN	650	K	E	Disease	Bladder cancer (BLC) [MIM:109800]
P22607	FGFR3_HUMAN	538	I	V	Disease	Hypochondroplasia (HCH) [MIM:146000]
P22607	FGFR3_HUMAN	650	K	M	Disease	Keratosis, seborrheic (KERSEB) [MIM:182000]
P22607	FGFR3_HUMAN	250	P	R	Disease	Muenke syndrome (MNKS) [MIM:602849]
P22607	FGFR3_HUMAN	384	F	L	Polymorphism	-
P22607	FGFR3_HUMAN	650	K	E	Disease	Thanatophoric dysplasia 2 (TD2) [MIM:187601]
P22607	FGFR3_HUMAN	650	K	E	Disease	Testicular germ cell tumor (TGCT) [MIM:273300]
P22607	FGFR3_HUMAN	79	T	S	Unclassified	A lung adenocarcinoma sample
P22607	FGFR3_HUMAN	646	D	N	Polymorphism	-
P22607	FGFR3_HUMAN	391	A	E	Disease	Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247]
P22607	FGFR3_HUMAN	650	K	Q	Disease	Bladder cancer (BLC) [MIM:109800]
P22607	FGFR3_HUMAN	650	K	M	Disease	Achondroplasia, severe, with developmental delay and acanthosis nigricans (SADDAN) [MIM:616482]
P22607	FGFR3_HUMAN	650	K	Q	Disease	Hypochondroplasia (HCH) [MIM:146000]
P22607	FGFR3_HUMAN	726	I	F	Polymorphism	-
P22607	FGFR3_HUMAN	373	Y	C	Disease	Keratosis, seborrheic (KERSEB) [MIM:182000]
P22607	FGFR3_HUMAN	371	S	C	Disease	Thanatophoric dysplasia 1 (TD1) [MIM:187600]
P22607	FGFR3_HUMAN	249	S	C	Disease	Cervical cancer (CERCA) [MIM:603956]
P22607	FGFR3_HUMAN	441	A	T	Polymorphism	-
P22607	FGFR3_HUMAN	248	R	C	Disease	Thanatophoric dysplasia 1 (TD1) [MIM:187600]
P22607	FGFR3_HUMAN	248	R	C	Disease	Keratosis, seborrheic (KERSEB) [MIM:182000]
P22607	FGFR3_HUMAN	513	D	N	Disease	Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
P22607	FGFR3_HUMAN	65	G	R	Polymorphism	-
P22607	FGFR3_HUMAN	540	N	S	Disease	Hypochondroplasia (HCH) [MIM:146000]
P22607	FGFR3_HUMAN	373	Y	C	Disease	Thanatophoric dysplasia 1 (TD1) [MIM:187600]
P22607	FGFR3_HUMAN	371	S	C	Disease	Keratosis, seborrheic (KERSEB) [MIM:182000]
P22607	FGFR3_HUMAN	370	G	C	Disease	Bladder cancer (BLC) [MIM:109800]
P22607	FGFR3_HUMAN	375	G	C	Disease	Achondroplasia (ACH) [MIM:100800]
P22607	FGFR3_HUMAN	380	G	R	Disease	Achondroplasia (ACH) [MIM:100800]
P22607	FGFR3_HUMAN	322	E	K	Unclassified	Colorectal cancer
P22607	FGFR3_HUMAN	248	R	C	Disease	Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
P22607	FGFR3_HUMAN	248	R	C	Disease	Bladder cancer (BLC) [MIM:109800]
P22607	FGFR3_HUMAN	650	K	M	Disease	Thanatophoric dysplasia 1 (TD1) [MIM:187600]
P22607	FGFR3_HUMAN	380	G	R	Disease	Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
P22607	FGFR3_HUMAN	370	G	C	Disease	Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
P22607	FGFR3_HUMAN	249	S	C	Disease	Thanatophoric dysplasia 1 (TD1) [MIM:187600]
P22607	FGFR3_HUMAN	249	S	C	Disease	Keratosis, seborrheic (KERSEB) [MIM:182000]
P22607	FGFR3_HUMAN	370	G	C	Disease	Thanatophoric dysplasia 1 (TD1) [MIM:187600]
P22607	FGFR3_HUMAN	370	G	C	Disease	Keratosis, seborrheic (KERSEB) [MIM:182000]
P22612	KAPCG_HUMAN	74	I	M	Disease	Bleeding disorder, platelet-type 19 (BDPLT19) [MIM:616176]
P22612	KAPCG_HUMAN	251	I	N	Polymorphism	-
P22612	KAPCG_HUMAN	268	H	D	Polymorphism	-
P22626	ROA2_HUMAN	302	D	V	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) [MIM:615422]
P22670	RFX1_HUMAN	370	T	A	Polymorphism	-
P22674	CCNO_HUMAN	213	L	P	Disease	Ciliary dyskinesia, primary, 29 (CILD29) [MIM:615872]
P22674	CCNO_HUMAN	239	H	R	Disease	Ciliary dyskinesia, primary, 29 (CILD29) [MIM:615872]
P22674	CCNO_HUMAN	161	L	M	Polymorphism	-
P22680	CP7A1_HUMAN	347	D	N	Polymorphism	-
P22680	CP7A1_HUMAN	86	H	N	Polymorphism	-
P22680	CP7A1_HUMAN	100	F	S	Polymorphism	-
P22680	CP7A1_HUMAN	233	N	S	Polymorphism	-
P22681	CBL_HUMAN	371	Y	H	Unclassified	-
P22681	CBL_HUMAN	287	K	R	Unclassified	-
P22681	CBL_HUMAN	782	P	L	Polymorphism	-
P22681	CBL_HUMAN	620	L	F	Polymorphism	-
P22681	CBL_HUMAN	367	Q	P	Disease	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
P22681	CBL_HUMAN	904	V	I	Polymorphism	-
P22681	CBL_HUMAN	420	R	Q	Disease	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
P22681	CBL_HUMAN	382	K	E	Disease	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
P22681	CBL_HUMAN	390	D	Y	Disease	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
P22681	CBL_HUMAN	499	R	L	Unclassified	-
P22692	IBP4_HUMAN	42	V	G	Polymorphism	-
P22694	KAPCB_HUMAN	106	R	Q	Polymorphism	-
P22695	QCR2_HUMAN	183	R	W	Disease	Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160]
P22695	QCR2_HUMAN	208	F	Y	Unclassified	A colorectal cancer sample
P22695	QCR2_HUMAN	254	R	H	Polymorphism	-
P22695	QCR2_HUMAN	183	R	Q	Polymorphism	-
P22695	QCR2_HUMAN	148	R	S	Polymorphism	-
P22732	GTR5_HUMAN	296	I	V	Polymorphism	-
P22735	TGM1_HUMAN	382	G	R	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	264	R	W	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	365	Y	D	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	396	R	H	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	307	R	G	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	278	G	R	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	102	D	V	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	392	G	D	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	359	V	M	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	144	G	E	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	142	R	C	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	518	V	M	Polymorphism	-
P22735	TGM1_HUMAN	473	G	S	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	142	R	H	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	607	R	C	Polymorphism	-
P22735	TGM1_HUMAN	286	R	Q	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	323	R	Q	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	293	F	V	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	383	V	M	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	366	L	P	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	143	R	H	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	225	R	P	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	389	R	H	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	687	R	H	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	94	G	D	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	544	Y	C	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	249	P	L	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	134	Y	C	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	372	V	I	Polymorphism	-
P22735	TGM1_HUMAN	315	R	H	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	755	S	L	Polymorphism	-
P22735	TGM1_HUMAN	289	N	T	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	802	D	V	Polymorphism	-
P22735	TGM1_HUMAN	330	N	H	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	42	S	Y	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	389	R	P	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	315	R	C	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	126	R	C	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	276	Y	N	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	132	D	N	Polymorphism	-
P22735	TGM1_HUMAN	144	G	R	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	126	R	H	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	264	R	Q	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	401	F	V	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	430	D	V	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	304	I	F	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	315	R	L	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	520	E	G	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	323	R	W	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	379	V	L	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	764	R	C	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	218	G	S	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	687	R	C	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	142	R	P	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	285	E	K	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	160	S	C	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	53	C	S	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	396	R	L	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	307	R	W	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	396	R	S	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	272	S	P	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	205	L	Q	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	212	S	F	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	490	D	G	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	143	R	C	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	331	S	P	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	358	S	R	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	243	I	S	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	225	R	H	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	209	V	F	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22735	TGM1_HUMAN	342	W	R	Disease	Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
P22736	NR4A1_HUMAN	26	L	V	Polymorphism	-
P22748	CAH4_HUMAN	177	N	K	Polymorphism	-
P22748	CAH4_HUMAN	219	R	S	Disease	Retinitis pigmentosa 17 (RP17) [MIM:600852]
P22748	CAH4_HUMAN	69	R	H	Disease	Retinitis pigmentosa 17 (RP17) [MIM:600852]
P22748	CAH4_HUMAN	237	V	L	Polymorphism	-
P22748	CAH4_HUMAN	12	A	T	Disease	Retinitis pigmentosa 17 (RP17) [MIM:600852]
P22748	CAH4_HUMAN	14	R	W	Disease	Retinitis pigmentosa 17 (RP17) [MIM:600852]
P22749	GNLY_HUMAN	119	T	I	Polymorphism	-
P22760	AAAD_HUMAN	281	V	I	Polymorphism	-
P22792	CPN2_HUMAN	536	V	M	Polymorphism	-
P22792	CPN2_HUMAN	305	A	T	Polymorphism	-
P22792	CPN2_HUMAN	509	Q	R	Polymorphism	-
P22830	HEMH_HUMAN	283	T	I	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	406	C	S	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	288	M	K	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	139	Q	L	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	334	P	L	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	236	C	Y	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	192	P	T	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	267	M	I	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	62	P	R	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	186	I	T	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	264	S	L	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	362	V	G	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	260	F	L	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	379	K	N	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	386	H	P	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	191	Y	H	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	406	C	Y	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	96	R	Q	Polymorphism	-
P22830	HEMH_HUMAN	178	E	K	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	182	L	R	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	55	G	C	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	71	I	K	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	151	S	P	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22830	HEMH_HUMAN	417	F	S	Disease	Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]
P22888	LSHR_HUMAN	457	L	R	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	581	C	R	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	542	I	L	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	144	V	F	Disease	Luteinizing hormone resistance (LHR) [MIM:238320]
P22888	LSHR_HUMAN	312	N	S	Polymorphism	-
P22888	LSHR_HUMAN	152	I	T	Disease	Luteinizing hormone resistance (LHR) [MIM:238320]
P22888	LSHR_HUMAN	578	D	E	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	291	N	S	Polymorphism	-
P22888	LSHR_HUMAN	578	D	Y	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	131	C	R	Disease	Luteinizing hormone resistance (LHR) [MIM:238320]
P22888	LSHR_HUMAN	284	N	S	Polymorphism	-
P22888	LSHR_HUMAN	502	L	P	Disease	Luteinizing hormone resistance (LHR) [MIM:238320]
P22888	LSHR_HUMAN	625	I	K	Disease	Luteinizing hormone resistance (LHR) [MIM:238320]
P22888	LSHR_HUMAN	577	T	I	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	575	I	L	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	368	L	P	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	306	S	N	Polymorphism	-
P22888	LSHR_HUMAN	564	D	N	Unclassified	A breast cancer sample
P22888	LSHR_HUMAN	593	A	P	Disease	Luteinizing hormone resistance (LHR) [MIM:238320]
P22888	LSHR_HUMAN	343	C	S	Disease	Luteinizing hormone resistance (LHR) [MIM:238320]
P22888	LSHR_HUMAN	578	D	G	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	568	A	V	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	572	A	V	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	564	D	G	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	354	E	K	Disease	Luteinizing hormone resistance (LHR) [MIM:238320]
P22888	LSHR_HUMAN	398	M	T	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	543	C	R	Disease	Luteinizing hormone resistance (LHR) [MIM:238320]
P22888	LSHR_HUMAN	571	M	I	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22888	LSHR_HUMAN	616	S	Y	Disease	Luteinizing hormone resistance (LHR) [MIM:238320]
P22888	LSHR_HUMAN	578	D	H	Unclassified	Leydig cell tumor
P22888	LSHR_HUMAN	373	A	V	Disease	Familial male precocious puberty (FMPP) [MIM:176410]
P22891	PROZ_HUMAN	295	R	H	Polymorphism	-
P22891	PROZ_HUMAN	70	E	K	Polymorphism	-
P22894	MMP8_HUMAN	3	S	C	Polymorphism	-
P22894	MMP8_HUMAN	32	T	I	Polymorphism	-
P22894	MMP8_HUMAN	154	G	E	Polymorphism	-
P22894	MMP8_HUMAN	436	V	A	Polymorphism	-
P22894	MMP8_HUMAN	193	D	V	Polymorphism	-
P22894	MMP8_HUMAN	87	K	E	Polymorphism	-
P22894	MMP8_HUMAN	246	N	Y	Polymorphism	-
P22894	MMP8_HUMAN	460	K	T	Polymorphism	-
P22897	MRC1_HUMAN	399	T	A	Polymorphism	-
P22897	MRC1_HUMAN	407	L	F	Polymorphism	-
P22897	MRC1_HUMAN	396	G	S	Polymorphism	-
P22897	MRC1_HUMAN	167	T	I	Polymorphism	-
P22914	CRYGS_HUMAN	18	G	V	Disease	Cataract 20, multiple types (CTRCT20) [MIM:116100]
P23025	XPA_HUMAN	256	M	V	Polymorphism	-
P23025	XPA_HUMAN	97	V	I	Polymorphism	-
P23025	XPA_HUMAN	130	R	K	Disease	Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]
P23025	XPA_HUMAN	244	H	R	Disease	Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]
P23025	XPA_HUMAN	185	Q	H	Disease	Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]
P23025	XPA_HUMAN	234	V	L	Polymorphism	-
P23025	XPA_HUMAN	94	P	L	Disease	Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]
P23025	XPA_HUMAN	252	L	V	Polymorphism	-
P23025	XPA_HUMAN	108	C	F	Disease	Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]
P23025	XPA_HUMAN	228	R	Q	Polymorphism	-
P23083	HV102_HUMAN	69	W	R	Polymorphism	-
P23083	HV102_HUMAN	89	M	S	Polymorphism	-
P23083	HV102_HUMAN	86	W	R	Polymorphism	-
P23083	HV102_HUMAN	111	A	V	Polymorphism	-
P23109	AMPD1_HUMAN	421	R	W	Disease	Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]
P23109	AMPD1_HUMAN	458	R	H	Disease	Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]
P23109	AMPD1_HUMAN	81	P	L	Polymorphism	-
P23109	AMPD1_HUMAN	666	P	H	Unclassified	A colorectal cancer sample
P23109	AMPD1_HUMAN	55	E	K	Polymorphism	-
P23141	EST1_HUMAN	203	D	E	Polymorphism	-
P23141	EST1_HUMAN	75	S	N	Polymorphism	-
P23141	EST1_HUMAN	143	G	E	Polymorphism	-
P23141	EST1_HUMAN	199	R	H	Polymorphism	-
P23142	FBLN1_HUMAN	695	H	R	Polymorphism	-
P23142	FBLN1_HUMAN	141	Q	R	Polymorphism	-
P23142	FBLN1_HUMAN	509	C	S	Polymorphism	-
P23142	FBLN1_HUMAN	397	C	F	Unclassified	-
P23219	PGH1_HUMAN	359	K	R	Polymorphism	-
P23219	PGH1_HUMAN	17	P	L	Polymorphism	-
P23219	PGH1_HUMAN	443	I	V	Polymorphism	-
P23219	PGH1_HUMAN	53	R	H	Polymorphism	-
P23219	PGH1_HUMAN	149	R	L	Polymorphism	-
P23219	PGH1_HUMAN	341	K	R	Polymorphism	-
P23219	PGH1_HUMAN	237	L	M	Polymorphism	-
P23219	PGH1_HUMAN	185	K	T	Polymorphism	-
P23219	PGH1_HUMAN	8	W	R	Polymorphism	-
P23219	PGH1_HUMAN	481	V	I	Polymorphism	-
P23258	TBG1_HUMAN	92	Y	C	Disease	Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) [MIM:615412]
P23258	TBG1_HUMAN	413	M	V	Polymorphism	-
P23258	TBG1_HUMAN	331	T	P	Disease	Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) [MIM:615412]
P23258	TBG1_HUMAN	387	L	P	Disease	Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) [MIM:615412]
P23276	KELL_HUMAN	281	R	Q	Polymorphism	-
P23276	KELL_HUMAN	382	Q	R	Polymorphism	-
P23276	KELL_HUMAN	163	A	T	Polymorphism	-
P23276	KELL_HUMAN	193	T	M	Polymorphism	-
P23276	KELL_HUMAN	548	H	R	Polymorphism	-
P23276	KELL_HUMAN	248	R	Q	Polymorphism	-
P23276	KELL_HUMAN	597	L	P	Polymorphism	-
P23276	KELL_HUMAN	494	E	V	Polymorphism	-
P23276	KELL_HUMAN	281	R	W	Polymorphism	-
P23276	KELL_HUMAN	302	V	A	Polymorphism	-
P23276	KELL_HUMAN	180	R	P	Polymorphism	-
P23276	KELL_HUMAN	406	R	Q	Polymorphism	-
P23276	KELL_HUMAN	322	A	V	Polymorphism	-
P23276	KELL_HUMAN	249	E	K	Polymorphism	-
P23276	KELL_HUMAN	726	S	A	Polymorphism	-
P23276	KELL_HUMAN	492	R	Q	Polymorphism	-
P23280	CAH6_HUMAN	70	G	A	Polymorphism	-
P23280	CAH6_HUMAN	90	S	G	Polymorphism	-
P23280	CAH6_HUMAN	37	Q	L	Polymorphism	-
P23280	CAH6_HUMAN	55	T	M	Polymorphism	-
P23280	CAH6_HUMAN	58	R	W	Polymorphism	-
P23280	CAH6_HUMAN	68	M	L	Polymorphism	-
P23284	PPIB_HUMAN	60	V	L	Polymorphism	-
P23284	PPIB_HUMAN	9	M	R	Disease	Osteogenesis imperfecta 9 (OI9) [MIM:259440]
P23327	SRCH_HUMAN	43	S	N	Polymorphism	-
P23327	SRCH_HUMAN	96	S	A	Polymorphism	-
P23352	KALM_HUMAN	134	C	G	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	587	V	L	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	672	H	R	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	517	F	L	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	217	Y	D	Disease	-
P23352	KALM_HUMAN	668	R	H	Polymorphism	-
P23352	KALM_HUMAN	172	C	R	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	262	R	P	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	534	V	I	Polymorphism	-
P23352	KALM_HUMAN	396	S	L	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	666	K	M	Polymorphism	-
P23352	KALM_HUMAN	163	C	Y	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	163	C	R	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	539	E	K	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	304	N	S	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	514	E	K	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	571	W	R	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352	KALM_HUMAN	267	N	K	Disease	Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23368	MAOM_HUMAN	114	P	L	Polymorphism	-
P23368	MAOM_HUMAN	450	G	E	Polymorphism	-
P23378	GCSP_HUMAN	768	G	E	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	905	V	G	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	624	A	D	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	373	R	W	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	994	G	R	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	933	I	T	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	839	Y	C	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	763	G	D	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	173	L	P	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	461	R	W	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	548	L	P	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	866	D	H	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	790	R	W	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	146	T	K	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	581	P	R	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	376	K	E	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	362	R	C	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	329	P	T	Polymorphism	-
P23378	GCSP_HUMAN	564	S	I	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	515	R	S	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	283	A	P	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	580	H	Y	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378	GCSP_HUMAN	267	P	A	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23381	SYWC_HUMAN	455	E	D	Unclassified	A breast cancer sample
P23381	SYWC_HUMAN	54	A	S	Polymorphism	-
P23381	SYWC_HUMAN	257	H	R	Disease	Neuronopathy, distal hereditary motor, 9 (HMN9) [MIM:617721]
P23381	SYWC_HUMAN	443	A	S	Polymorphism	-
P23409	MYF6_HUMAN	90	A	D	Polymorphism	-
P23409	MYF6_HUMAN	112	A	S	Unclassified	-
P23415	GLRA1_HUMAN	304	K	E	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	450	R	H	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	319	L	P	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	100	R	C	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	246	R	W	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	278	P	T	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	308	V	M	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	307	Y	C	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	428	R	H	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	299	R	Q	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	294	Q	H	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	424	D	A	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	299	R	L	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	93	R	W	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	254	Q	E	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	280	R	H	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	258	P	S	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415	GLRA1_HUMAN	272	I	N	Disease	Hyperekplexia 1 (HKPX1) [MIM:149400]
P23434	GCSH_HUMAN	21	S	L	Polymorphism	-
P23434	GCSH_HUMAN	73	N	S	Polymorphism	-
P23443	KS6B1_HUMAN	276	W	C	Polymorphism	-
P23443	KS6B1_HUMAN	225	M	I	Polymorphism	-
P23443	KS6B1_HUMAN	289	G	E	Unclassified	A colorectal cancer sample
P23443	KS6B1_HUMAN	398	S	A	Polymorphism	-
P23443	KS6B1_HUMAN	272	R	C	Polymorphism	-
P23458	JAK1_HUMAN	973	N	K	Polymorphism	-
P23467	PTPRB_HUMAN	1032	T	I	Polymorphism	-
P23467	PTPRB_HUMAN	939	T	M	Polymorphism	-
P23467	PTPRB_HUMAN	127	S	G	Polymorphism	-
P23467	PTPRB_HUMAN	415	D	E	Polymorphism	-
P23467	PTPRB_HUMAN	94	R	K	Polymorphism	-
P23467	PTPRB_HUMAN	1934	G	A	Polymorphism	-
P23467	PTPRB_HUMAN	395	V	A	Polymorphism	-
P23468	PTPRD_HUMAN	1078	E	D	Polymorphism	-
P23468	PTPRD_HUMAN	276	L	P	Unclassified	A colorectal cancer sample
P23468	PTPRD_HUMAN	995	R	C	Polymorphism	-
P23468	PTPRD_HUMAN	447	Q	E	Polymorphism	-
P23468	PTPRD_HUMAN	28	R	Q	Unclassified	A colorectal cancer sample
P23468	PTPRD_HUMAN	901	V	A	Unclassified	A colorectal cancer sample
P23470	PTPRG_HUMAN	574	G	S	Polymorphism	-
P23470	PTPRG_HUMAN	639	Q	R	Polymorphism	-
P23470	PTPRG_HUMAN	92	Y	H	Polymorphism	-
P23471	PTPRZ_HUMAN	1433	G	D	Polymorphism	-
P23471	PTPRZ_HUMAN	3	I	S	Polymorphism	-
P23471	PTPRZ_HUMAN	6	R	L	Polymorphism	-
P23490	LORI_HUMAN	29	S	G	Polymorphism	-
P23490	LORI_HUMAN	285	S	F	Polymorphism	-
P23497	SP100_HUMAN	699	E	G	Polymorphism	-
P23497	SP100_HUMAN	471	S	P	Polymorphism	-
P23497	SP100_HUMAN	433	M	V	Polymorphism	-
P23508	CRCM_HUMAN	751	S	C	Polymorphism	-
P23508	CRCM_HUMAN	490	S	L	Unclassified	A colorectal cancer sample
P23508	CRCM_HUMAN	698	A	V	Unclassified	Colorectal cancer samples
P23508	CRCM_HUMAN	486	P	L	Unclassified	A colorectal cancer sample
P23508	CRCM_HUMAN	506	R	Q	Unclassified	Colorectal cancer samples
P23508	CRCM_HUMAN	267	R	L	Unclassified	A colorectal cancer sample
P23508	CRCM_HUMAN	190	K	R	Polymorphism	-
P23508	CRCM_HUMAN	142	E	K	Polymorphism	-
P23515	OMGP_HUMAN	21	G	D	Polymorphism	-
P23515	OMGP_HUMAN	435	V	A	Polymorphism	-
P23526	SAHH_HUMAN	38	R	W	Polymorphism	-
P23526	SAHH_HUMAN	86	D	N	Polymorphism	-
P23526	SAHH_HUMAN	89	A	V	Disease	Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
P23526	SAHH_HUMAN	49	R	C	Disease	Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
P23526	SAHH_HUMAN	86	D	G	Disease	Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
P23526	SAHH_HUMAN	143	Y	C	Disease	Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
P23560	BDNF_HUMAN	66	V	M	Polymorphism	-
P23560	BDNF_HUMAN	125	R	M	Polymorphism	-
P23560	BDNF_HUMAN	75	Q	H	Polymorphism	-
P23560	BDNF_HUMAN	127	R	L	Polymorphism	-
P23560	BDNF_HUMAN	122	M	T	Unclassified	-
P23560	BDNF_HUMAN	2	T	I	Disease	Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
P23582	ANFC_HUMAN	82	R	Q	Polymorphism	-
P23588	IF4B_HUMAN	203	P	R	Unclassified	-
P23743	DGKA_HUMAN	538	H	Y	Polymorphism	-
P23760	PAX3_HUMAN	391	Q	H	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	90	Y	H	Disease	Waardenburg syndrome 3 (WS3) [MIM:148820]
P23760	PAX3_HUMAN	266	W	C	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	273	R	K	Unclassified	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	270	R	C	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	78	V	M	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	73	S	L	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	271	R	G	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	47	N	H	Disease	Waardenburg syndrome 3 (WS3) [MIM:148820]
P23760	PAX3_HUMAN	270	R	C	Disease	Waardenburg syndrome 3 (WS3) [MIM:148820]
P23760	PAX3_HUMAN	60	V	M	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	84	S	F	Disease	Waardenburg syndrome 3 (WS3) [MIM:148820]
P23760	PAX3_HUMAN	265	V	F	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	62	M	V	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	56	R	L	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	47	N	K	Disease	Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]
P23760	PAX3_HUMAN	80	H	D	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	48	G	R	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	238	F	S	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	271	R	C	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	59	I	N	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	315	T	K	Polymorphism	-
P23760	PAX3_HUMAN	234	L	P	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	50	P	L	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	45	F	L	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	85	K	E	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	271	R	H	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	81	G	A	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	99	G	D	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760	PAX3_HUMAN	59	I	F	Disease	Waardenburg syndrome 1 (WS1) [MIM:193500]
P23769	GATA2_HUMAN	373	C	R	Disease	Lymphedema, primary, with myelodysplasia (LMPM) [MIM:614038]
P23769	GATA2_HUMAN	254	P	L	Disease	Immunodeficiency 21 (IMD21) [MIM:614172]
P23769	GATA2_HUMAN	235	T	N	Polymorphism	-
P23769	GATA2_HUMAN	354	T	M	Disease	Myelodysplastic syndrome (MDS) [MIM:614286]
P23769	GATA2_HUMAN	164	A	T	Polymorphism	-
P23769	GATA2_HUMAN	354	T	M	Disease	Immunodeficiency 21 (IMD21) [MIM:614172]
P23769	GATA2_HUMAN	361	R	P	Disease	Lymphedema, primary, with myelodysplasia (LMPM) [MIM:614038]
P23769	GATA2_HUMAN	398	R	W	Disease	Immunodeficiency 21 (IMD21) [MIM:614172]
P23771	GATA3_HUMAN	242	G	S	Polymorphism	-
P23771	GATA3_HUMAN	366	R	L	Unclassified	A breast cancer sample
P23771	GATA3_HUMAN	298	R	Q	Disease	Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) [MIM:146255]
P23771	GATA3_HUMAN	274	W	R	Disease	Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) [MIM:146255]
P23786	CPT2_HUMAN	628	Y	S	Disease	Carnitine palmitoyltransferase 2 deficiency, infantile (CPT2DI) [MIM:600649]
P23786	CPT2_HUMAN	479	Y	F	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	550	Q	R	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	549	G	D	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	504	P	L	Polymorphism	-
P23786	CPT2_HUMAN	174	E	K	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	553	D	N	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	210	Y	D	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	368	V	I	Polymorphism	-
P23786	CPT2_HUMAN	213	D	G	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	647	M	V	Polymorphism	-
P23786	CPT2_HUMAN	383	F	Y	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	151	R	Q	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	214	M	T	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	503	R	C	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	605	V	L	Polymorphism	-
P23786	CPT2_HUMAN	631	R	C	Disease	Carnitine palmitoyltransferase 2 deficiency, infantile (CPT2DI) [MIM:600649]
P23786	CPT2_HUMAN	113	S	L	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	227	P	L	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	296	R	Q	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	50	P	H	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	600	G	R	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	588	S	C	Polymorphism	-
P23786	CPT2_HUMAN	448	F	L	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	604	P	S	Disease	Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]
P23786	CPT2_HUMAN	352	F	C	Polymorphism	-
P23921	RIR1_HUMAN	778	V	A	Polymorphism	-
P23921	RIR1_HUMAN	590	K	Q	Polymorphism	-
P23942	PRPH2_HUMAN	210	P	L	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	141	Y	C	Disease	Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
P23942	PRPH2_HUMAN	126	L	P	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	165	C	Y	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	13	R	W	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	45	L	F	Disease	Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
P23942	PRPH2_HUMAN	213	C	F	Disease	Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
P23942	PRPH2_HUMAN	137	G	S	Polymorphism	-
P23942	PRPH2_HUMAN	142	R	W	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	213	C	R	Disease	Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
P23942	PRPH2_HUMAN	208	G	D	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	45	L	F	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	219	P	R	Polymorphism	-
P23942	PRPH2_HUMAN	198	S	R	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	172	R	G	Disease	Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
P23942	PRPH2_HUMAN	68	G	R	Disease	Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
P23942	PRPH2_HUMAN	153	K	R	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	185	L	P	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	214	C	S	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	268	V	I	Disease	Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
P23942	PRPH2_HUMAN	172	R	Q	Polymorphism	-
P23942	PRPH2_HUMAN	141	Y	C	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	32	I	V	Polymorphism	-
P23942	PRPH2_HUMAN	212	S	T	Disease	Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
P23942	PRPH2_HUMAN	172	R	W	Polymorphism	-
P23942	PRPH2_HUMAN	173	D	V	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	210	P	R	Disease	Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
P23942	PRPH2_HUMAN	216	P	L	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	266	G	D	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	209	V	I	Disease	Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
P23942	PRPH2_HUMAN	184	Y	S	Polymorphism	-
P23942	PRPH2_HUMAN	216	P	R	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	244	N	K	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	195	R	L	Disease	Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105]
P23942	PRPH2_HUMAN	216	P	A	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	210	P	R	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	249	G	S	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	126	L	R	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	338	G	D	Polymorphism	-
P23942	PRPH2_HUMAN	216	P	S	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	167	G	D	Disease	Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
P23942	PRPH2_HUMAN	221	P	L	Disease	Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105]
P23942	PRPH2_HUMAN	212	S	G	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	123	R	W	Disease	Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105]
P23942	PRPH2_HUMAN	210	P	S	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	211	F	L	Disease	Retinitis pigmentosa 7 (RP7) [MIM:608133]
P23942	PRPH2_HUMAN	305	G	D	Disease	Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
P23942	PRPH2_HUMAN	220	R	W	Disease	Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
P23942	PRPH2_HUMAN	310	K	R	Polymorphism	-
P23942	PRPH2_HUMAN	313	P	L	Polymorphism	-
P23942	PRPH2_HUMAN	167	G	S	Disease	Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
P23942	PRPH2_HUMAN	157	D	N	Disease	Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
P23942	PRPH2_HUMAN	244	N	H	Polymorphism	-
P23942	PRPH2_HUMAN	304	E	Q	Polymorphism	-
P23942	PRPH2_HUMAN	220	R	Q	Disease	Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
P23945	FSHR_HUMAN	567	D	G	Unclassified	-
P23945	FSHR_HUMAN	680	N	S	Polymorphism	-
P23945	FSHR_HUMAN	545	I	T	Disease	Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
P23945	FSHR_HUMAN	449	T	A	Disease	Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
P23945	FSHR_HUMAN	307	A	T	Polymorphism	-
P23945	FSHR_HUMAN	419	A	T	Disease	Ovarian dysgenesis 1 (ODG1) [MIM:233300]
P23945	FSHR_HUMAN	519	P	T	Disease	Ovarian dysgenesis 1 (ODG1) [MIM:233300]
P23945	FSHR_HUMAN	348	P	R	Disease	Ovarian dysgenesis 1 (ODG1) [MIM:233300]
P23945	FSHR_HUMAN	224	D	V	Disease	Ovarian dysgenesis 1 (ODG1) [MIM:233300]
P23945	FSHR_HUMAN	591	F	S	Unclassified	Ovarian sex cord tumor
P23945	FSHR_HUMAN	160	I	T	Disease	Ovarian dysgenesis 1 (ODG1) [MIM:233300]
P23945	FSHR_HUMAN	449	T	I	Disease	Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
P23945	FSHR_HUMAN	524	S	R	Polymorphism	-
P23945	FSHR_HUMAN	575	A	V	Disease	Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
P23945	FSHR_HUMAN	128	S	Y	Disease	Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
P23945	FSHR_HUMAN	512	M	I	Disease	Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
P23945	FSHR_HUMAN	601	L	V	Disease	Ovarian dysgenesis 1 (ODG1) [MIM:233300]
P23945	FSHR_HUMAN	567	D	N	Disease	Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
P23945	FSHR_HUMAN	189	A	V	Disease	Ovarian dysgenesis 1 (ODG1) [MIM:233300]
P23945	FSHR_HUMAN	573	R	C	Disease	Ovarian dysgenesis 1 (ODG1) [MIM:233300]
P23945	FSHR_HUMAN	514	V	A	Disease	Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
P23946	CMA1_HUMAN	46	G	R	Polymorphism	-
P23946	CMA1_HUMAN	98	R	H	Polymorphism	-
P23946	CMA1_HUMAN	66	H	R	Polymorphism	-
P23975	SC6A2_HUMAN	375	N	S	Polymorphism	-
P23975	SC6A2_HUMAN	369	A	P	Polymorphism	-
P23975	SC6A2_HUMAN	549	I	T	Polymorphism	-
P23975	SC6A2_HUMAN	69	V	I	Polymorphism	-
P23975	SC6A2_HUMAN	457	A	P	Disease	Orthostatic intolerance (OI) [MIM:604715]
P23975	SC6A2_HUMAN	449	V	I	Polymorphism	-
P23975	SC6A2_HUMAN	463	K	R	Polymorphism	-
P23975	SC6A2_HUMAN	283	T	R	Polymorphism	-
P23975	SC6A2_HUMAN	245	V	I	Polymorphism	-
P23975	SC6A2_HUMAN	356	V	L	Polymorphism	-
P23975	SC6A2_HUMAN	99	T	I	Polymorphism	-
P23975	SC6A2_HUMAN	528	F	C	Polymorphism	-
P23975	SC6A2_HUMAN	7	N	K	Polymorphism	-
P23975	SC6A2_HUMAN	548	Y	H	Polymorphism	-
P23975	SC6A2_HUMAN	292	N	T	Polymorphism	-
P23975	SC6A2_HUMAN	478	G	S	Polymorphism	-
P24001	IL32_HUMAN	152	D	N	Polymorphism	-
P24043	LAMA2_HUMAN	919	R	L	Polymorphism	-
P24043	LAMA2_HUMAN	619	R	H	Polymorphism	-
P24043	LAMA2_HUMAN	862	C	R	Disease	Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
P24043	LAMA2_HUMAN	821	T	M	Unclassified	Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
P24043	LAMA2_HUMAN	2614	E	K	Polymorphism	-
P24043	LAMA2_HUMAN	1160	P	A	Unclassified	A breast cancer sample
P24043	LAMA2_HUMAN	2477	R	S	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138]
P24043	LAMA2_HUMAN	1311	W	G	Disease	Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
P24043	LAMA2_HUMAN	545	L	Q	Polymorphism	-
P24043	LAMA2_HUMAN	2633	G	A	Disease	Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
P24043	LAMA2_HUMAN	96	R	S	Polymorphism	-
P24043	LAMA2_HUMAN	1138	V	M	Polymorphism	-
P24043	LAMA2_HUMAN	2564	L	P	Disease	Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
P24043	LAMA2_HUMAN	1496	A	V	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138]
P24043	LAMA2_HUMAN	1205	T	A	Polymorphism	-
P24043	LAMA2_HUMAN	152	W	G	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138]
P24043	LAMA2_HUMAN	644	H	D	Polymorphism	-
P24043	LAMA2_HUMAN	199	C	S	Polymorphism	-
P24043	LAMA2_HUMAN	240	Y	H	Polymorphism	-
P24043	LAMA2_HUMAN	527	C	Y	Disease	Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
P24043	LAMA2_HUMAN	284	G	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138]
P24043	LAMA2_HUMAN	2586	Y	H	Polymorphism	-
P24043	LAMA2_HUMAN	3029	T	A	Polymorphism	-
P24043	LAMA2_HUMAN	2587	A	V	Polymorphism	-
P24043	LAMA2_HUMAN	1945	A	T	Polymorphism	-
P24043	LAMA2_HUMAN	2889	G	R	Disease	Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
P24043	LAMA2_HUMAN	2636	T	A	Polymorphism	-
P24043	LAMA2_HUMAN	518	C	Y	Unclassified	Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
P24043	LAMA2_HUMAN	243	L	P	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138]
P24043	LAMA2_HUMAN	1561	K	Q	Polymorphism	-
P24046	GBRR1_HUMAN	26	M	V	Polymorphism	-
P24046	GBRR1_HUMAN	27	H	R	Polymorphism	-
P24071	FCAR_HUMAN	113	D	N	Polymorphism	-
P24071	FCAR_HUMAN	269	S	G	Polymorphism	-
P24158	PRTN3_HUMAN	119	V	I	Polymorphism	-
P24158	PRTN3_HUMAN	135	A	T	Polymorphism	-
P24158	PRTN3_HUMAN	136	T	S	Polymorphism	-
P24298	ALAT1_HUMAN	452	V	L	Unclassified	-
P24298	ALAT1_HUMAN	14	H	N	Polymorphism	-
P24298	ALAT1_HUMAN	430	E	Q	Unclassified	-
P24347	MMP11_HUMAN	44	E	K	Polymorphism	-
P24347	MMP11_HUMAN	182	F	S	Polymorphism	-
P24347	MMP11_HUMAN	86	S	P	Polymorphism	-
P24347	MMP11_HUMAN	61	P	L	Polymorphism	-
P24347	MMP11_HUMAN	38	A	V	Polymorphism	-
P24347	MMP11_HUMAN	166	D	N	Unclassified	A colorectal cancer sample
P24386	RAE1_HUMAN	507	H	R	Disease	Choroideremia (CHM) [MIM:303100]
P24386	RAE1_HUMAN	471	Q	L	Disease	Choroideremia (CHM) [MIM:303100]
P24386	RAE1_HUMAN	550	L	P	Disease	Choroideremia (CHM) [MIM:303100]
P24394	IL4RA_HUMAN	492	A	V	Polymorphism	-
P24394	IL4RA_HUMAN	75	I	L	Polymorphism	-
P24394	IL4RA_HUMAN	75	I	F	Polymorphism	-
P24394	IL4RA_HUMAN	675	P	S	Polymorphism	-
P24394	IL4RA_HUMAN	400	E	A	Polymorphism	-
P24394	IL4RA_HUMAN	786	S	P	Polymorphism	-
P24394	IL4RA_HUMAN	387	S	L	Polymorphism	-
P24394	IL4RA_HUMAN	492	A	T	Polymorphism	-
P24394	IL4RA_HUMAN	75	I	V	Polymorphism	-
P24394	IL4RA_HUMAN	752	S	A	Polymorphism	-
P24394	IL4RA_HUMAN	579	V	I	Polymorphism	-
P24394	IL4RA_HUMAN	436	S	L	Polymorphism	-
P24394	IL4RA_HUMAN	431	C	R	Polymorphism	-
P24394	IL4RA_HUMAN	576	Q	R	Polymorphism	-
P24394	IL4RA_HUMAN	503	S	P	Polymorphism	-
P24462	CP3A7_HUMAN	71	V	A	Polymorphism	-
P24462	CP3A7_HUMAN	409	T	R	Polymorphism	-
P24468	COT2_HUMAN	205	N	I	Disease	Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779]
P24468	COT2_HUMAN	251	E	D	Disease	Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779]
P24468	COT2_HUMAN	412	A	S	Disease	Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779]
P24468	COT2_HUMAN	170	D	V	Disease	Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779]
P24468	COT2_HUMAN	341	S	Y	Disease	Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779]
P24530	EDNRB_HUMAN	183	A	G	Disease	Waardenburg syndrome 4A (WS4A) [MIM:277580]
P24530	EDNRB_HUMAN	112	F	V	Polymorphism	-
P24530	EDNRB_HUMAN	276	W	C	Disease	Hirschsprung disease 2 (HSCR2) [MIM:600155]
P24530	EDNRB_HUMAN	156	P	R	Disease	-
P24530	EDNRB_HUMAN	292	F	L	Disease	Waardenburg syndrome 4A (WS4A) [MIM:277580]
P24530	EDNRB_HUMAN	5	P	T	Polymorphism	-
P24530	EDNRB_HUMAN	17	L	F	Polymorphism	-
P24530	EDNRB_HUMAN	76	R	M	Polymorphism	-
P24530	EDNRB_HUMAN	57	G	S	Polymorphism	-
P24530	EDNRB_HUMAN	305	S	N	Polymorphism	-
P24530	EDNRB_HUMAN	244	T	M	Polymorphism	-
P24530	EDNRB_HUMAN	319	R	W	Disease	Hirschsprung disease 2 (HSCR2) [MIM:600155]
P24530	EDNRB_HUMAN	374	M	I	Disease	Hirschsprung disease 2 (HSCR2) [MIM:600155]
P24530	EDNRB_HUMAN	383	P	L	Disease	Hirschsprung disease 2 (HSCR2) [MIM:600155]
P24530	EDNRB_HUMAN	7	L	Q	Polymorphism	-
P24530	EDNRB_HUMAN	137	N	Y	Disease	-
P24530	EDNRB_HUMAN	17	L	P	Disease	-
P24539	AT5F1_HUMAN	152	T	M	Polymorphism	-
P24539	AT5F1_HUMAN	152	T	N	Polymorphism	-
P24557	THAS_HUMAN	512	L	P	Polymorphism	-
P24557	THAS_HUMAN	487	L	P	Disease	Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]
P24557	THAS_HUMAN	465	R	Q	Polymorphism	-
P24557	THAS_HUMAN	416	Q	E	Polymorphism	-
P24557	THAS_HUMAN	357	L	V	Polymorphism	-
P24557	THAS_HUMAN	481	G	W	Disease	Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]
P24557	THAS_HUMAN	412	R	Q	Disease	Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]
P24557	THAS_HUMAN	429	A	T	Polymorphism	-
P24557	THAS_HUMAN	511	P	L	Polymorphism	-
P24557	THAS_HUMAN	501	R	Q	Polymorphism	-
P24557	THAS_HUMAN	70	L	V	Polymorphism	-
P24557	THAS_HUMAN	60	R	H	Polymorphism	-
P24557	THAS_HUMAN	260	R	G	Polymorphism	-
P24557	THAS_HUMAN	162	L	I	Polymorphism	-
P24557	THAS_HUMAN	356	L	V	Polymorphism	-
P24557	THAS_HUMAN	160	D	E	Polymorphism	-
P24557	THAS_HUMAN	450	T	N	Polymorphism	-
P24557	THAS_HUMAN	257	K	E	Polymorphism	-
P24557	THAS_HUMAN	388	E	K	Polymorphism	-
P24557	THAS_HUMAN	70	L	P	Polymorphism	-
P24557	THAS_HUMAN	124	V	I	Polymorphism	-
P24557	THAS_HUMAN	449	E	K	Polymorphism	-
P24557	THAS_HUMAN	424	R	C	Polymorphism	-
P24557	THAS_HUMAN	331	I	T	Polymorphism	-
P24557	THAS_HUMAN	82	L	P	Disease	Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]
P24557	THAS_HUMAN	389	G	V	Polymorphism	-
P24557	THAS_HUMAN	316	Q	K	Polymorphism	-
P24557	THAS_HUMAN	85	R	W	Unclassified	A breast cancer sample
P24557	THAS_HUMAN	387	E	K	Polymorphism	-
P24557	THAS_HUMAN	245	N	S	Polymorphism	-
P24588	AKAP5_HUMAN	203	T	I	Polymorphism	-
P24588	AKAP5_HUMAN	100	P	L	Polymorphism	-
P24588	AKAP5_HUMAN	314	E	K	Polymorphism	-
P24592	IBP6_HUMAN	236	T	P	Polymorphism	-
P24592	IBP6_HUMAN	217	R	Q	Polymorphism	-
P24592	IBP6_HUMAN	134	R	L	Polymorphism	-
P24592	IBP6_HUMAN	128	R	G	Polymorphism	-
P24593	IBP5_HUMAN	138	R	W	Polymorphism	-
P24666	PPAC_HUMAN	106	Q	R	Polymorphism	-
P24666	PPAC_HUMAN	137	S	F	Polymorphism	-
P24666	PPAC_HUMAN	7	K	N	Polymorphism	-
P24723	KPCL_HUMAN	19	A	V	Polymorphism	-
P24723	KPCL_HUMAN	65	K	R	Polymorphism	-
P24723	KPCL_HUMAN	374	V	I	Polymorphism	-
P24723	KPCL_HUMAN	359	R	Q	Polymorphism	-
P24723	KPCL_HUMAN	594	T	I	Unclassified	A colorectal adenocarcinoma sample
P24723	KPCL_HUMAN	645	D	V	Polymorphism	-
P24723	KPCL_HUMAN	149	R	Q	Polymorphism	-
P24723	KPCL_HUMAN	575	T	A	Polymorphism	-
P24723	KPCL_HUMAN	497	D	Y	Polymorphism	-
P24723	KPCL_HUMAN	612	P	S	Polymorphism	-
P24752	THIL_HUMAN	183	G	R	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
P24752	THIL_HUMAN	93	N	S	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
P24752	THIL_HUMAN	5	A	P	Polymorphism	-
P24752	THIL_HUMAN	301	A	P	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
P24752	THIL_HUMAN	158	N	D	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
P24752	THIL_HUMAN	152	G	A	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
P24752	THIL_HUMAN	379	G	V	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
P24752	THIL_HUMAN	312	I	T	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
P24752	THIL_HUMAN	333	A	P	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
P24752	THIL_HUMAN	297	T	M	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
P24752	THIL_HUMAN	380	A	T	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
P24821	TENA_HUMAN	1773	V	M	Disease	Deafness, autosomal dominant, 56 (DFNA56) [MIM:615629]
P24821	TENA_HUMAN	850	D	H	Polymorphism	-
P24821	TENA_HUMAN	213	G	S	Polymorphism	-
P24821	TENA_HUMAN	1677	I	L	Polymorphism	-
P24821	TENA_HUMAN	1796	T	S	Disease	Deafness, autosomal dominant, 56 (DFNA56) [MIM:615629]
P24821	TENA_HUMAN	680	Q	R	Polymorphism	-
P24821	TENA_HUMAN	605	V	I	Polymorphism	-
P24821	TENA_HUMAN	2008	E	Q	Polymorphism	-
P24821	TENA_HUMAN	1781	A	T	Polymorphism	-
P24821	TENA_HUMAN	539	Q	R	Polymorphism	-
P24855	DNAS1_HUMAN	107	R	G	Polymorphism	-
P24855	DNAS1_HUMAN	2	R	S	Polymorphism	-
P24855	DNAS1_HUMAN	127	G	R	Polymorphism	-
P24855	DNAS1_HUMAN	207	R	C	Polymorphism	-
P24855	DNAS1_HUMAN	154	P	A	Polymorphism	-
P24855	DNAS1_HUMAN	262	G	D	Polymorphism	-
P24855	DNAS1_HUMAN	114	V	M	Polymorphism	-
P24855	DNAS1_HUMAN	31	Q	E	Polymorphism	-
P24855	DNAS1_HUMAN	231	C	Y	Polymorphism	-
P24855	DNAS1_HUMAN	244	R	Q	Polymorphism	-
P24855	DNAS1_HUMAN	246	A	P	Polymorphism	-
P24903	CP2F1_HUMAN	98	R	P	Polymorphism	-
P24903	CP2F1_HUMAN	391	L	P	Polymorphism	-
P24903	CP2F1_HUMAN	38	S	P	Polymorphism	-
P24903	CP2F1_HUMAN	490	P	L	Polymorphism	-
P24903	CP2F1_HUMAN	218	D	N	Polymorphism	-
P24903	CP2F1_HUMAN	266	Q	H	Polymorphism	-
P24928	RPB1_HUMAN	292	R	C	Polymorphism	-
P24941	CDK2_HUMAN	18	V	L	Polymorphism	-
P24941	CDK2_HUMAN	45	P	L	Unclassified	A glioblastoma multiforme sample
P24941	CDK2_HUMAN	15	Y	S	Polymorphism	-
P24941	CDK2_HUMAN	290	T	S	Polymorphism	-
P25021	HRH2_HUMAN	217	N	D	Polymorphism	-
P25021	HRH2_HUMAN	268	V	M	Polymorphism	-
P25021	HRH2_HUMAN	231	K	R	Polymorphism	-
P25024	CXCR1_HUMAN	71	R	C	Polymorphism	-
P25024	CXCR1_HUMAN	268	M	L	Polymorphism	-
P25024	CXCR1_HUMAN	306	A	T	Polymorphism	-
P25024	CXCR1_HUMAN	342	S	L	Polymorphism	-
P25024	CXCR1_HUMAN	276	S	T	Polymorphism	-
P25024	CXCR1_HUMAN	31	M	R	Polymorphism	-
P25024	CXCR1_HUMAN	335	R	C	Polymorphism	-
P25025	CXCR2_HUMAN	80	R	C	Polymorphism	-
P25054	APC_HUMAN	1317	E	Q	Polymorphism	-
P25054	APC_HUMAN	722	S	G	Disease	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	1395	S	C	Polymorphism	-
P25054	APC_HUMAN	1348	R	W	Disease	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	1057	E	G	Unclassified	-
P25054	APC_HUMAN	1304	I	V	Polymorphism	-
P25054	APC_HUMAN	1822	V	D	Polymorphism	-
P25054	APC_HUMAN	890	V	I	Unclassified	Colorectal carcinoma
P25054	APC_HUMAN	2621	S	C	Disease	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	1307	I	K	Polymorphism	-
P25054	APC_HUMAN	906	S	Y	Unclassified	Colorectal tumor
P25054	APC_HUMAN	1171	R	C	Polymorphism	-
P25054	APC_HUMAN	1472	V	I	Disease	Medulloblastoma (MDB) [MIM:155255]
P25054	APC_HUMAN	1296	A	V	Disease	Medulloblastoma (MDB) [MIM:155255]
P25054	APC_HUMAN	2502	G	S	Polymorphism	-
P25054	APC_HUMAN	1973	S	T	Polymorphism	-
P25054	APC_HUMAN	1882	R	T	Polymorphism	-
P25054	APC_HUMAN	1184	A	P	Disease	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	942	N	D	Disease	Gastric cancer (GASC) [MIM:613659]
P25054	APC_HUMAN	2738	I	T	Polymorphism	-
P25054	APC_HUMAN	1422	D	H	Unclassified	Colorectal tumor
P25054	APC_HUMAN	1292	T	M	Unclassified	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	1313	T	A	Disease	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	1118	N	D	Polymorphism	-
P25054	APC_HUMAN	1495	S	G	Disease	Medulloblastoma (MDB) [MIM:155255]
P25054	APC_HUMAN	99	R	W	Unclassified	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	414	R	C	Disease	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	1312	G	E	Disease	Gastric cancer (GASC) [MIM:613659]
P25054	APC_HUMAN	870	P	S	Polymorphism	-
P25054	APC_HUMAN	1254	I	F	Unclassified	A colorectal cancer sample
P25054	APC_HUMAN	784	S	T	Disease	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	1259	I	T	Disease	Gastric cancer (GASC) [MIM:613659]
P25054	APC_HUMAN	1176	P	L	Disease	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	1508	A	V	Unclassified	Colorectal carcinoma from a patient with MMRCS
P25054	APC_HUMAN	1120	G	E	Disease	Gastric cancer (GASC) [MIM:613659]
P25054	APC_HUMAN	2839	L	F	Disease	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	911	E	G	Disease	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	817	G	C	Disease	Gastric cancer (GASC) [MIM:613659]
P25054	APC_HUMAN	171	S	I	Disease	Familial adenomatous polyposis (FAP) [MIM:175100]
P25054	APC_HUMAN	1197	F	S	Disease	Gastric cancer (GASC) [MIM:613659]
P25054	APC_HUMAN	1313	T	A	Unclassified	Colorectal tumor
P25054	APC_HUMAN	2499	V	L	Polymorphism	-
P25054	APC_HUMAN	1496	T	S	Polymorphism	-
P25054	APC_HUMAN	1027	Y	C	Unclassified	Colorectal tumor
P25054	APC_HUMAN	911	E	G	Unclassified	Colorectal tumor
P25054	APC_HUMAN	1171	R	H	Disease	Gastric cancer (GASC) [MIM:613659]
P25054	APC_HUMAN	1326	V	A	Disease	Gastric cancer (GASC) [MIM:613659]
P25054	APC_HUMAN	880	I	T	Unclassified	Colorectal carcinoma
P25054	APC_HUMAN	880	I	T	Disease	Gastric cancer (GASC) [MIM:613659]
P25063	CD24_HUMAN	44	S	T	Polymorphism	-
P25063	CD24_HUMAN	57	A	V	Polymorphism	-
P25067	CO8A2_HUMAN	304	R	Q	Disease	Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]
P25067	CO8A2_HUMAN	455	Q	K	Disease	Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]
P25067	CO8A2_HUMAN	455	Q	K	Disease	Corneal dystrophy, posterior polymorphous, 2 (PPCD2) [MIM:609140]
P25067	CO8A2_HUMAN	434	R	H	Disease	Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]
P25067	CO8A2_HUMAN	357	G	R	Unclassified	Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]
P25067	CO8A2_HUMAN	502	T	M	Polymorphism	-
P25067	CO8A2_HUMAN	155	R	Q	Disease	Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]
P25067	CO8A2_HUMAN	575	P	L	Unclassified	Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]
P25067	CO8A2_HUMAN	3	G	R	Polymorphism	-
P25067	CO8A2_HUMAN	645	T	I	Polymorphism	-
P25092	GUC2C_HUMAN	1072	Y	C	Polymorphism	-
P25092	GUC2C_HUMAN	387	D	G	Disease	Meconium ileus (MECIL) [MIM:614665]
P25092	GUC2C_HUMAN	859	I	V	Polymorphism	-
P25092	GUC2C_HUMAN	61	G	R	Unclassified	A metastatic melanoma sample
P25092	GUC2C_HUMAN	464	R	L	Polymorphism	-
P25092	GUC2C_HUMAN	610	E	K	Polymorphism	-
P25092	GUC2C_HUMAN	1045	Q	R	Polymorphism	-
P25092	GUC2C_HUMAN	281	F	L	Polymorphism	-
P25092	GUC2C_HUMAN	840	S	I	Disease	Diarrhea 6 (DIAR6) [MIM:614616]
P25092	GUC2C_HUMAN	114	R	Q	Polymorphism	-
P25092	GUC2C_HUMAN	30	C	R	Polymorphism	-
P25098	ARBK1_HUMAN	578	R	Q	Unclassified	A colorectal adenocarcinoma sample
P25098	ARBK1_HUMAN	184	I	T	Polymorphism	-
P25101	EDNRA_HUMAN	129	Y	F	Disease	Mandibulofacial dysostosis with alopecia (MFDA) [MIM:616367]
P25101	EDNRA_HUMAN	303	E	K	Disease	Mandibulofacial dysostosis with alopecia (MFDA) [MIM:616367]
P25101	EDNRA_HUMAN	136	I	L	Unclassified	A breast cancer sample
P25103	NK1R_HUMAN	192	Y	H	Polymorphism	-
P25105	PTAFR_HUMAN	338	N	S	Polymorphism	-
P25105	PTAFR_HUMAN	224	A	D	Polymorphism	-
P25106	ACKR3_HUMAN	219	L	W	Polymorphism	-
P25116	PAR1_HUMAN	166	S	G	Polymorphism	-
P25116	PAR1_HUMAN	268	A	P	Polymorphism	-
P25116	PAR1_HUMAN	257	V	L	Polymorphism	-
P25116	PAR1_HUMAN	412	S	Y	Polymorphism	-
P25116	PAR1_HUMAN	187	Y	N	Polymorphism	-
P25116	PAR1_HUMAN	335	A	V	Polymorphism	-
P25189	MYP0_HUMAN	96	K	E	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	98	R	P	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	124	T	M	Disease	Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]
P25189	MYP0_HUMAN	109	D	N	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	112	I	T	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	44	S	F	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	68	Y	C	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	98	R	S	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	128	D	N	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	90	D	E	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	122	N	S	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	81	H	Y	Polymorphism	-
P25189	MYP0_HUMAN	135	I	L	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	124	T	M	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	98	R	C	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	65	T	I	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	34	T	I	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	167	G	A	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	135	I	L	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	93	G	E	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	221	A	T	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	227	R	S	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	82	Y	C	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	56	E	K	Unclassified	-
P25189	MYP0_HUMAN	127	C	Y	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	63	S	F	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	63	S	C	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	65	T	A	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	146	V	F	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	54	S	C	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	30	I	M	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	244	R	L	Polymorphism	-
P25189	MYP0_HUMAN	134	D	N	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	128	D	E	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	167	G	R	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	113	V	F	Polymorphism	-
P25189	MYP0_HUMAN	39	H	P	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	82	Y	C	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	81	H	R	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	32	V	F	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	145	Y	S	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	110	G	D	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	124	T	K	Disease	Neuropathy, congenital hypomyelinating, 2 (CHN2) [MIM:618184]
P25189	MYP0_HUMAN	44	S	F	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	75	D	V	Disease	Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]
P25189	MYP0_HUMAN	58	V	F	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	224	D	Y	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	130	K	R	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	137	G	S	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	135	I	T	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	167	G	A	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	119	Y	C	Polymorphism	-
P25189	MYP0_HUMAN	78	S	L	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	123	G	C	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	138	K	N	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	113	V	I	Unclassified	-
P25189	MYP0_HUMAN	98	R	H	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	75	D	V	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	167	G	R	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	98	R	C	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	130	K	R	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	99	I	T	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	78	S	W	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	81	H	R	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	54	S	P	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	114	I	T	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	170	L	R	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	139	T	N	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	97	E	V	Disease	Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]
P25189	MYP0_HUMAN	51	S	F	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	132	P	L	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	103	G	E	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	124	T	M	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	130	K	R	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	136	V	E	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	60	D	H	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	163	G	R	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	236	K	E	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	35	D	Y	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) [MIM:607791]
P25189	MYP0_HUMAN	62	I	M	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	61	D	G	Polymorphism	-
P25189	MYP0_HUMAN	118	D	N	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	123	G	C	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	35	D	Y	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	101	W	C	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	134	D	E	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	134	D	G	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	162	I	M	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	140	S	T	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	116	N	H	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
P25189	MYP0_HUMAN	143	T	M	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	62	I	F	Disease	Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]
P25189	MYP0_HUMAN	89	I	N	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	92	V	M	Disease	Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]
P25189	MYP0_HUMAN	131	N	K	Disease	Roussy-Levy syndrome (ROULS) [MIM:180800]
P25205	MCM3_HUMAN	590	I	L	Polymorphism	-
P25205	MCM3_HUMAN	105	S	G	Polymorphism	-
P25205	MCM3_HUMAN	777	E	K	Polymorphism	-
P25205	MCM3_HUMAN	774	R	W	Polymorphism	-
P25205	MCM3_HUMAN	280	D	V	Polymorphism	-
P25205	MCM3_HUMAN	287	F	L	Polymorphism	-
P25391	LAMA1_HUMAN	349	L	S	Polymorphism	-
P25391	LAMA1_HUMAN	2611	T	A	Polymorphism	-
P25391	LAMA1_HUMAN	2002	K	E	Polymorphism	-
P25391	LAMA1_HUMAN	1682	D	V	Polymorphism	-
P25391	LAMA1_HUMAN	1340	M	V	Polymorphism	-
P25391	LAMA1_HUMAN	2511	L	M	Polymorphism	-
P25391	LAMA1_HUMAN	1591	L	V	Polymorphism	-
P25391	LAMA1_HUMAN	674	N	T	Polymorphism	-
P25391	LAMA1_HUMAN	2076	I	T	Polymorphism	-
P25391	LAMA1_HUMAN	1876	A	T	Polymorphism	-
P25391	LAMA1_HUMAN	1577	S	A	Polymorphism	-
P25391	LAMA1_HUMAN	559	V	I	Polymorphism	-
P25391	LAMA1_HUMAN	1632	K	E	Polymorphism	-
P25440	BRD2_HUMAN	49	A	G	Polymorphism	-
P25440	BRD2_HUMAN	558	R	G	Unclassified	A gastric adenocarcinoma sample
P25440	BRD2_HUMAN	238	L	F	Polymorphism	-
P25440	BRD2_HUMAN	547	R	K	Polymorphism	-
P25440	BRD2_HUMAN	30	G	E	Unclassified	A glioblastoma multiforme sample
P25440	BRD2_HUMAN	212	A	P	Polymorphism	-
P25440	BRD2_HUMAN	260	P	Q	Polymorphism	-
P25440	BRD2_HUMAN	569	A	T	Polymorphism	-
P25440	BRD2_HUMAN	474	A	V	Polymorphism	-
P25440	BRD2_HUMAN	49	A	S	Polymorphism	-
P25440	BRD2_HUMAN	714	P	L	Unclassified	A glioblastoma multiforme sample
P25440	BRD2_HUMAN	599	A	P	Polymorphism	-
P25445	TNR6_HUMAN	305	T	I	Polymorphism	-
P25445	TNR6_HUMAN	232	Y	C	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	183	P	L	Unclassified	Non-Hodgkin lymphoma
P25445	TNR6_HUMAN	272	E	K	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	241	T	P	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	272	E	G	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	260	D	Y	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	310	I	S	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	198	T	I	Unclassified	Non-Hodgkin lymphoma
P25445	TNR6_HUMAN	270	T	I	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	264	N	K	Unclassified	Non-Hodgkin lymphoma
P25445	TNR6_HUMAN	25	A	T	Unclassified	Non-Hodgkin lymphoma
P25445	TNR6_HUMAN	180	L	F	Unclassified	Non-Hodgkin lymphoma
P25445	TNR6_HUMAN	250	R	P	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	270	T	K	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	278	L	F	Unclassified	Non-Hodgkin lymphoma
P25445	TNR6_HUMAN	178	C	R	Unclassified	Squamous cell carcinoma
P25445	TNR6_HUMAN	253	G	S	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	260	D	G	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	184	I	V	Polymorphism	-
P25445	TNR6_HUMAN	249	V	L	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	28	T	A	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	122	T	I	Polymorphism	-
P25445	TNR6_HUMAN	250	R	Q	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	121	R	W	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	255	N	D	Unclassified	Squamous cell carcinoma
P25445	TNR6_HUMAN	16	A	T	Polymorphism	-
P25445	TNR6_HUMAN	118	N	S	Unclassified	Squamous cell carcinoma
P25445	TNR6_HUMAN	257	A	D	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	262	I	S	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	253	G	D	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	299	K	N	Unclassified	Non-Hodgkin lymphoma
P25445	TNR6_HUMAN	260	D	V	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	82	C	R	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	241	T	K	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25445	TNR6_HUMAN	259	I	R	Disease	Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]
P25490	TYY1_HUMAN	372	T	R	Polymorphism	-
P25490	TYY1_HUMAN	339	K	Q	Unclassified	Gabriele-de Vries syndrome (GADEVS) [MIM:617557]
P25490	TYY1_HUMAN	380	D	Y	Disease	Gabriele-de Vries syndrome (GADEVS) [MIM:617557]
P25490	TYY1_HUMAN	320	H	Y	Unclassified	Gabriele-de Vries syndrome (GADEVS) [MIM:617557]
P25490	TYY1_HUMAN	366	L	P	Disease	Gabriele-de Vries syndrome (GADEVS) [MIM:617557]
P25490	TYY1_HUMAN	366	L	V	Unclassified	Gabriele-de Vries syndrome (GADEVS) [MIM:617557]
P25686	DNJB2_HUMAN	5	Y	C	Disease	Distal spinal muscular atrophy, autosomal recessive, 5 (DSMA5) [MIM:614881]
P25686	DNJB2_HUMAN	270	G	R	Polymorphism	-
P25705	ATPA_HUMAN	32	A	S	Polymorphism	-
P25705	ATPA_HUMAN	329	R	C	Disease	Mitochondrial complex V deficiency, nuclear type 4 (MC5DN4) [MIM:615228]
P25705	ATPA_HUMAN	321	Y	C	Disease	Combined oxidative phosphorylation deficiency 22 (COXPD22) [MIM:616045]
P25774	CATS_HUMAN	161	S	T	Polymorphism	-
P25774	CATS_HUMAN	113	R	W	Polymorphism	-
P25786	PSA1_HUMAN	37	G	V	Polymorphism	-
P25787	PSA2_HUMAN	110	L	V	Unclassified	A colorectal cancer sample
P25874	UCP1_HUMAN	64	A	T	Polymorphism	-
P25874	UCP1_HUMAN	229	M	L	Polymorphism	-
P25929	NPY1R_HUMAN	374	K	T	Polymorphism	-
P25940	CO5A3_HUMAN	1488	A	P	Polymorphism	-
P25940	CO5A3_HUMAN	1207	R	P	Polymorphism	-
P25940	CO5A3_HUMAN	1594	I	M	Polymorphism	-
P25940	CO5A3_HUMAN	1428	V	M	Polymorphism	-
P25940	CO5A3_HUMAN	322	R	G	Polymorphism	-
P25940	CO5A3_HUMAN	134	R	H	Polymorphism	-
P25940	CO5A3_HUMAN	1691	V	I	Polymorphism	-
P25940	CO5A3_HUMAN	1042	R	P	Polymorphism	-
P25942	TNR5_HUMAN	26	C	Q	Unclassified	Bladder carcinoma cell line Hu549
P25942	TNR5_HUMAN	39	S	T	Unclassified	Bladder carcinoma cell line Hu549
P25942	TNR5_HUMAN	227	P	A	Polymorphism	-
P25942	TNR5_HUMAN	83	C	R	Disease	Immunodeficiency with hyper-IgM 3 (HIGM3) [MIM:606843]
P25942	TNR5_HUMAN	35	S	G	Unclassified	Bladder carcinoma cell line Hu549
P25942	TNR5_HUMAN	124	S	L	Polymorphism	-
P25942	TNR5_HUMAN	37	C	G	Disease	Immunodeficiency with hyper-IgM 3 (HIGM3) [MIM:606843]
P25963	IKBA_HUMAN	32	S	I	Disease	Ectodermal dysplasia and immunodeficiency 2 (EDAID2) [MIM:612132]
P26006	ITA3_HUMAN	125	G	R	Disease	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB) [MIM:614748]
P26006	ITA3_HUMAN	719	A	T	Polymorphism	-
P26006	ITA3_HUMAN	628	R	P	Disease	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB) [MIM:614748]
P26006	ITA3_HUMAN	268	I	F	Polymorphism	-
P26006	ITA3_HUMAN	274	R	Q	Disease	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB) [MIM:614748]
P26006	ITA3_HUMAN	840	G	S	Polymorphism	-
P26010	ITB7_HUMAN	672	H	Y	Polymorphism	-
P26012	ITB8_HUMAN	552	S	F	Polymorphism	-
P26022	PTX3_HUMAN	48	A	D	Polymorphism	-
P26022	PTX3_HUMAN	290	A	V	Polymorphism	-
P26022	PTX3_HUMAN	39	H	Q	Polymorphism	-
P26022	PTX3_HUMAN	313	E	K	Polymorphism	-
P26038	MOES_HUMAN	171	R	W	Disease	Immunodeficiency 50 (IMD50) [MIM:300988]
P26045	PTN3_HUMAN	605	F	L	Polymorphism	-
P26045	PTN3_HUMAN	90	A	P	Polymorphism	-
P26045	PTN3_HUMAN	763	D	N	Polymorphism	-
P26045	PTN3_HUMAN	77	D	N	Polymorphism	-
P26045	PTN3_HUMAN	409	T	A	Polymorphism	-
P26358	DNMT1_HUMAN	311	I	V	Polymorphism	-
P26358	DNMT1_HUMAN	590	V	F	Disease	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121]
P26358	DNMT1_HUMAN	554	A	V	Disease	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121]
P26358	DNMT1_HUMAN	589	G	A	Disease	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121]
P26358	DNMT1_HUMAN	495	Y	C	Disease	Neuropathy, hereditary sensory, 1E (HSN1E) [MIM:614116]
P26358	DNMT1_HUMAN	97	H	R	Polymorphism	-
P26367	PAX6_HUMAN	52	C	R	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	321	A	T	Unclassified	-
P26367	PAX6_HUMAN	87	I	K	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	242	R	T	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	46	L	R	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	18	G	W	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	387	G	D	Polymorphism	-
P26367	PAX6_HUMAN	119	S	R	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	118	P	R	Unclassified	-
P26367	PAX6_HUMAN	178	Q	H	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	73	G	D	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	17	N	S	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	43	S	P	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	29	I	V	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	64	G	V	Polymorphism	-
P26367	PAX6_HUMAN	126	V	D	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	87	I	R	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	56	I	T	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	353	S	A	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	53	V	D	Disease	Anterior segment dysgenesis 5 (ASGD5) [MIM:604229]
P26367	PAX6_HUMAN	128	R	C	Disease	Foveal hypoplasia 1 (FVH1) [MIM:136520]
P26367	PAX6_HUMAN	422	Q	R	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	53	V	L	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	42	I	S	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	63	T	P	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	375	P	Q	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	125	R	C	Disease	Foveal hypoplasia 1 (FVH1) [MIM:136520]
P26367	PAX6_HUMAN	44	R	Q	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	208	R	Q	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	258	F	S	Disease	Coloboma of optic nerve (COLON) [MIM:120430]
P26367	PAX6_HUMAN	68	P	S	Polymorphism	-
P26367	PAX6_HUMAN	79	A	E	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	292	S	I	Disease	Bilateral optic nerve hypoplasia (BONH) [MIM:165550]
P26367	PAX6_HUMAN	258	F	S	Disease	Coloboma, ocular, autosomal dominant (COAD) [MIM:120200]
P26367	PAX6_HUMAN	33	A	P	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	378	Q	R	Unclassified	-
P26367	PAX6_HUMAN	26	R	G	Disease	Anterior segment dysgenesis 5 (ASGD5) [MIM:604229]
P26367	PAX6_HUMAN	395	G	R	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	208	R	W	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	381	M	V	Disease	Bilateral optic nerve hypoplasia (BONH) [MIM:165550]
P26367	PAX6_HUMAN	363	S	P	Disease	Anterior segment dysgenesis 5 (ASGD5) [MIM:604229]
P26367	PAX6_HUMAN	29	I	S	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	19	R	P	Disease	Aniridia 1 (AN1) [MIM:106210]
P26367	PAX6_HUMAN	391	T	A	Disease	Bilateral optic nerve hypoplasia (BONH) [MIM:165550]
P26371	KRA59_HUMAN	40	Y	C	Polymorphism	-
P26371	KRA59_HUMAN	8	G	R	Polymorphism	-
P26373	RL13_HUMAN	170	T	P	Polymorphism	-
P26373	RL13_HUMAN	112	A	T	Polymorphism	-
P26378	ELAV4_HUMAN	356	A	T	Polymorphism	-
P26378	ELAV4_HUMAN	166	D	G	Polymorphism	-
P26378	ELAV4_HUMAN	270	P	S	Polymorphism	-
P26436	ASPX_HUMAN	126	G	R	Polymorphism	-
P26439	3BHS2_HUMAN	108	L	W	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	82	A	P	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	94	E	Q	Polymorphism	-
P26439	3BHS2_HUMAN	155	P	L	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	294	G	V	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	186	P	L	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	222	P	Q	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	341	P	L	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	213	S	G	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	216	K	E	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	222	P	H	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	259	T	M	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	167	A	V	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	142	E	K	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	259	T	R	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	236	L	S	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	74	D	N	Polymorphism	-
P26439	3BHS2_HUMAN	253	Y	N	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	245	A	P	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	173	L	R	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	222	P	T	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	82	A	T	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	100	N	S	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	10	A	V	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	254	Y	D	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	15	G	D	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	129	G	R	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	205	L	P	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439	3BHS2_HUMAN	10	A	E	Disease	Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26440	IVD_HUMAN	97	A	G	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	199	I	M	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	279	L	P	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	414	R	L	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	123	G	R	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	202	G	V	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	403	Y	N	Unclassified	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	395	R	C	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	398	R	Q	Unclassified	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	250	G	A	Unclassified	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	314	A	V	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	379	I	T	Unclassified	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	53	R	P	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	45	L	P	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	72	D	N	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	291	A	V	Unclassified	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	403	Y	C	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	360	C	R	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26440	IVD_HUMAN	374	V	A	Disease	Isovaleric acidemia (IVA) [MIM:243500]
P26441	CNTF_HUMAN	182	H	R	Polymorphism	-
P26441	CNTF_HUMAN	49	N	S	Polymorphism	-
P26572	MGAT1_HUMAN	435	L	P	Polymorphism	-
P26572	MGAT1_HUMAN	223	R	Q	Polymorphism	-
P26639	SYTC_HUMAN	21	G	D	Polymorphism	-
P26640	SYVC_HUMAN	51	P	T	Polymorphism	-
P26640	SYVC_HUMAN	1008	P	L	Polymorphism	-
P26640	SYVC_HUMAN	626	P	S	Polymorphism	-
P26640	SYVC_HUMAN	1058	R	Q	Unclassified	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA) [MIM:617802]
P26640	SYVC_HUMAN	51	P	R	Polymorphism	-
P26640	SYVC_HUMAN	885	L	F	Unclassified	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA) [MIM:617802]
P26640	SYVC_HUMAN	181	R	C	Polymorphism	-
P26651	TTP_HUMAN	324	V	F	Polymorphism	-
P26651	TTP_HUMAN	37	P	S	Polymorphism	-
P26651	TTP_HUMAN	259	I	F	Polymorphism	-
P26651	TTP_HUMAN	55	P	S	Polymorphism	-
P26678	PPLA_HUMAN	9	R	L	Disease	Cardiomyopathy, dilated 1P (CMD1P) [MIM:609909]
P26678	PPLA_HUMAN	9	R	H	Disease	Cardiomyopathy, dilated 1P (CMD1P) [MIM:609909]
P26678	PPLA_HUMAN	9	R	C	Disease	Cardiomyopathy, dilated 1P (CMD1P) [MIM:609909]
P26715	NKG2A_HUMAN	29	N	S	Polymorphism	-
P26717	NKG2C_HUMAN	102	S	F	Polymorphism	-
P26717	NKG2C_HUMAN	2	S	N	Polymorphism	-
P26718	NKG2D_HUMAN	177	N	S	Polymorphism	-
P26718	NKG2D_HUMAN	72	A	T	Polymorphism	-
P26842	CD27_HUMAN	233	H	R	Polymorphism	-
P26842	CD27_HUMAN	53	C	Y	Disease	Lymphoproliferative syndrome 2 (LPFS2) [MIM:615122]
P26842	CD27_HUMAN	59	A	T	Polymorphism	-
P26885	FKBP2_HUMAN	25	A	T	Polymorphism	-
P26885	FKBP2_HUMAN	97	C	Y	Polymorphism	-
P26885	FKBP2_HUMAN	7	R	Q	Polymorphism	-
P26927	HGFL_HUMAN	689	R	C	Polymorphism	-
P26927	HGFL_HUMAN	551	S	G	Polymorphism	-
P26927	HGFL_HUMAN	212	C	F	Polymorphism	-
P26927	HGFL_HUMAN	13	C	Y	Polymorphism	-
P26951	IL3RA_HUMAN	323	V	L	Polymorphism	-
P26951	IL3RA_HUMAN	77	E	G	Polymorphism	-
P26951	IL3RA_HUMAN	123	S	T	Polymorphism	-
P26951	IL3RA_HUMAN	12	A	T	Polymorphism	-
P26998	CRBB3_HUMAN	165	G	R	Disease	Cataract 22, multiple types (CTRCT22) [MIM:609741]
P26998	CRBB3_HUMAN	159	V	I	Polymorphism	-
P26998	CRBB3_HUMAN	113	H	D	Polymorphism	-
P26998	CRBB3_HUMAN	194	V	E	Disease	Cataract 22, multiple types (CTRCT22) [MIM:609741]
P26998	CRBB3_HUMAN	105	R	Q	Polymorphism	-
P27037	AVR2A_HUMAN	367	A	T	Unclassified	-
P27037	AVR2A_HUMAN	306	D	N	Unclassified	A gastric adenocarcinoma sample
P27037	AVR2A_HUMAN	258	S	R	Polymorphism	-
P27169	PON1_HUMAN	192	Q	R	Polymorphism	-
P27169	PON1_HUMAN	102	I	V	Polymorphism	-
P27169	PON1_HUMAN	55	L	M	Polymorphism	-
P27169	PON1_HUMAN	160	R	G	Polymorphism	-
P27216	ANX13_HUMAN	272	V	I	Polymorphism	-
P27216	ANX13_HUMAN	108	V	I	Polymorphism	-
P27216	ANX13_HUMAN	86	R	H	Polymorphism	-
P27352	IF_HUMAN	255	N	S	Polymorphism	-
P27352	IF_HUMAN	46	S	L	Disease	Hereditary intrinsic factor deficiency (IFD) [MIM:261000]
P27352	IF_HUMAN	65	G	R	Polymorphism	-
P27352	IF_HUMAN	23	Q	R	Polymorphism	-
P27361	MK03_HUMAN	323	E	K	Polymorphism	-
P27448	MARK3_HUMAN	443	S	G	Polymorphism	-
P27448	MARK3_HUMAN	570	R	G	Disease	Visual impairment and progressive phthisis bulbi (VIPB) [MIM:618283]
P27448	MARK3_HUMAN	429	V	A	Polymorphism	-
P27448	MARK3_HUMAN	410	S	F	Polymorphism	-
P27539	GDF1_HUMAN	364	M	T	Disease	Congenital heart defects, multiple types, 6 (CHTD6) [MIM:613854]
P27539	GDF1_HUMAN	262	G	S	Unclassified	-
P27539	GDF1_HUMAN	318	A	T	Disease	Congenital heart defects, multiple types, 6 (CHTD6) [MIM:613854]
P27539	GDF1_HUMAN	68	R	H	Unclassified	-
P27539	GDF1_HUMAN	162	G	D	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P27539	GDF1_HUMAN	309	S	P	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P27539	GDF1_HUMAN	267	C	Y	Disease	Conotruncal heart malformations (CTHM) [MIM:217095]
P27539	GDF1_HUMAN	312	P	T	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P27539	GDF1_HUMAN	118	A	V	Polymorphism	-
P27540	ARNT_HUMAN	430	R	Q	Polymorphism	-
P27540	ARNT_HUMAN	706	P	L	Polymorphism	-
P27540	ARNT_HUMAN	511	D	N	Polymorphism	-
P27540	ARNT_HUMAN	517	D	E	Polymorphism	-
P27544	CERS1_HUMAN	183	H	Q	Disease	Epilepsy, progressive myoclonic 8 (EPM8) [MIM:616230]
P27635	RL10_HUMAN	78	K	E	Disease	Mental retardation, X-linked, syndromic, 35 (MRXS35) [MIM:300998]
P27635	RL10_HUMAN	64	A	V	Disease	Mental retardation, X-linked, syndromic, 35 (MRXS35) [MIM:300998]
P27635	RL10_HUMAN	202	N	S	Polymorphism	-
P27635	RL10_HUMAN	206	L	M	Disease	Autism, X-linked 5 (AUTSX5) [MIM:300847]
P27635	RL10_HUMAN	213	H	Q	Disease	Autism, X-linked 5 (AUTSX5) [MIM:300847]
P27635	RL10_HUMAN	161	G	S	Unclassified	Mental retardation, X-linked, syndromic, 35 (MRXS35) [MIM:300998]
P27694	RFA1_HUMAN	351	T	A	Polymorphism	-
P27695	APEX1_HUMAN	64	I	V	Polymorphism	-
P27695	APEX1_HUMAN	148	D	E	Polymorphism	-
P27695	APEX1_HUMAN	51	Q	H	Polymorphism	-
P27701	CD82_HUMAN	241	I	V	Polymorphism	-
P27708	PYR1_HUMAN	735	Y	C	Unclassified	A colorectal cancer sample
P27708	PYR1_HUMAN	2024	R	Q	Disease	Epileptic encephalopathy, early infantile, 50 (EIEE50) [MIM:616457]
P27708	PYR1_HUMAN	177	R	Q	Unclassified	A colorectal cancer sample
P27708	PYR1_HUMAN	33	M	R	Unclassified	Epileptic encephalopathy, early infantile, 50 (EIEE50) [MIM:616457]
P27815	PDE4A_HUMAN	736	A	E	Polymorphism	-
P27815	PDE4A_HUMAN	808	H	Y	Polymorphism	-
P27816	MAP4_HUMAN	367	S	P	Polymorphism	-
P27816	MAP4_HUMAN	427	S	Y	Polymorphism	-
P27816	MAP4_HUMAN	994	I	V	Polymorphism	-
P27816	MAP4_HUMAN	441	E	Q	Polymorphism	-
P27816	MAP4_HUMAN	366	P	L	Polymorphism	-
P27816	MAP4_HUMAN	628	V	I	Polymorphism	-
P27816	MAP4_HUMAN	23	R	Q	Polymorphism	-
P27816	MAP4_HUMAN	409	D	G	Polymorphism	-
P27918	PROP_HUMAN	343	Q	R	Disease	Properdin deficiency (PFD) [MIM:312060]
P27918	PROP_HUMAN	3	T	I	Unclassified	A breast cancer sample
P27918	PROP_HUMAN	204	P	L	Polymorphism	-
P27918	PROP_HUMAN	100	R	W	Disease	Properdin deficiency (PFD) [MIM:312060]
P27918	PROP_HUMAN	298	G	V	Disease	Properdin deficiency (PFD) [MIM:312060]
P27918	PROP_HUMAN	53	V	M	Polymorphism	-
P27918	PROP_HUMAN	414	Y	D	Disease	Properdin deficiency (PFD) [MIM:312060]
P27918	PROP_HUMAN	250	G	S	Polymorphism	-
P27930	IL1R2_HUMAN	181	E	K	Polymorphism	-
P27930	IL1R2_HUMAN	292	E	K	Polymorphism	-
P27986	P85A_HUMAN	326	M	I	Polymorphism	-
P27986	P85A_HUMAN	489	E	K	Disease	SHORT syndrome (SHORTS) [MIM:269880]
P27986	P85A_HUMAN	451	E	K	Polymorphism	-
P27986	P85A_HUMAN	649	R	W	Disease	SHORT syndrome (SHORTS) [MIM:269880]
P27986	P85A_HUMAN	409	R	Q	Polymorphism	-
P27987	IP3KB_HUMAN	552	P	Q	Polymorphism	-
P27987	IP3KB_HUMAN	408	S	A	Polymorphism	-
P27987	IP3KB_HUMAN	322	A	T	Polymorphism	-
P28039	AOAH_HUMAN	166	A	T	Polymorphism	-
P28039	AOAH_HUMAN	266	A	G	Polymorphism	-
P28039	AOAH_HUMAN	28	D	N	Polymorphism	-
P28062	PSB8_HUMAN	105	K	Q	Disease	Proteasome-associated autoinflammatory syndrome 1 (PRAAS1) [MIM:256040]
P28062	PSB8_HUMAN	94	A	P	Unclassified	Proteasome-associated autoinflammatory syndrome 1 (PRAAS1) [MIM:256040]
P28062	PSB8_HUMAN	75	T	M	Disease	Proteasome-associated autoinflammatory syndrome 1 (PRAAS1) [MIM:256040]
P28062	PSB8_HUMAN	201	G	V	Disease	Proteasome-associated autoinflammatory syndrome 1 (PRAAS1) [MIM:256040]
P28062	PSB8_HUMAN	74	T	S	Polymorphism	-
P28062	PSB8_HUMAN	49	Q	K	Polymorphism	-
P28062	PSB8_HUMAN	8	G	R	Polymorphism	-
P28065	PSB9_HUMAN	32	V	I	Polymorphism	-
P28065	PSB9_HUMAN	165	G	D	Disease	Proteasome-associated autoinflammatory syndrome 3 (PRAAS3) [MIM:617591]
P28065	PSB9_HUMAN	9	G	E	Polymorphism	-
P28065	PSB9_HUMAN	60	R	H	Polymorphism	-
P28065	PSB9_HUMAN	173	R	C	Polymorphism	-
P28067	DMA_HUMAN	210	R	C	Polymorphism	-
P28067	DMA_HUMAN	210	R	H	Polymorphism	-
P28067	DMA_HUMAN	181	G	A	Polymorphism	-
P28067	DMA_HUMAN	163	D	H	Polymorphism	-
P28067	DMA_HUMAN	235	V	M	Polymorphism	-
P28067	DMA_HUMAN	166	V	I	Polymorphism	-
P28067	DMA_HUMAN	162	H	Q	Polymorphism	-
P28068	DMB_HUMAN	71	S	N	Polymorphism	-
P28068	DMB_HUMAN	197	I	T	Polymorphism	-
P28068	DMB_HUMAN	162	A	V	Polymorphism	-
P28068	DMB_HUMAN	162	A	E	Polymorphism	-
P28068	DMB_HUMAN	45	S	F	Polymorphism	-
P28068	DMB_HUMAN	28	T	A	Polymorphism	-
P28068	DMB_HUMAN	49	D	V	Polymorphism	-
P28069	PIT1_HUMAN	135	F	C	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	158	A	P	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	227	D	Y	Polymorphism	-
P28069	PIT1_HUMAN	19	A	V	Polymorphism	-
P28069	PIT1_HUMAN	4	Q	R	Polymorphism	-
P28069	PIT1_HUMAN	24	P	L	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	143	R	Q	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	179	S	R	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	239	P	S	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	193	W	R	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	172	R	Q	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	76	P	L	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	265	R	W	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	271	R	W	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	230	E	K	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28069	PIT1_HUMAN	174	E	G	Disease	Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
P28070	PSB4_HUMAN	234	I	T	Polymorphism	-
P28070	PSB4_HUMAN	95	M	I	Polymorphism	-
P28072	PSB6_HUMAN	107	P	A	Polymorphism	-
P28074	PSB5_HUMAN	24	R	C	Polymorphism	-
P28161	GSTM2_HUMAN	173	S	N	Polymorphism	-
P28221	5HT1D_HUMAN	265	S	L	Polymorphism	-
P28222	5HT1B_HUMAN	124	F	C	Polymorphism	-
P28222	5HT1B_HUMAN	374	E	K	Polymorphism	-
P28222	5HT1B_HUMAN	367	I	V	Polymorphism	-
P28222	5HT1B_HUMAN	219	F	L	Polymorphism	-
P28223	5HT2A_HUMAN	447	A	V	Polymorphism	-
P28223	5HT2A_HUMAN	197	I	V	Polymorphism	-
P28223	5HT2A_HUMAN	25	T	N	Polymorphism	-
P28223	5HT2A_HUMAN	452	H	Y	Polymorphism	-
P28288	ABCD3_HUMAN	17	G	D	Polymorphism	-
P28290	ITPI2_HUMAN	817	A	V	Polymorphism	-
P28290	ITPI2_HUMAN	833	R	W	Polymorphism	-
P28290	ITPI2_HUMAN	836	P	L	Polymorphism	-
P28290	ITPI2_HUMAN	1258	Y	N	Polymorphism	-
P28300	LYOX_HUMAN	79	A	T	Unclassified	Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
P28300	LYOX_HUMAN	348	S	R	Disease	Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
P28300	LYOX_HUMAN	154	L	F	Unclassified	Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
P28300	LYOX_HUMAN	267	Q	P	Disease	Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
P28300	LYOX_HUMAN	248	T	I	Unclassified	Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
P28300	LYOX_HUMAN	298	M	R	Disease	Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
P28300	LYOX_HUMAN	158	R	Q	Polymorphism	-
P28300	LYOX_HUMAN	280	S	I	Disease	Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
P28325	CYTD_HUMAN	46	C	R	Polymorphism	-
P28328	PEX2_HUMAN	184	C	R	Polymorphism	-
P28328	PEX2_HUMAN	55	E	K	Disease	Peroxisome biogenesis disorder 5B (PBD5B) [MIM:614867]
P28329	CLAT_HUMAN	498	S	L	Disease	Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
P28329	CLAT_HUMAN	461	V	M	Polymorphism	-
P28329	CLAT_HUMAN	420	R	C	Disease	Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
P28329	CLAT_HUMAN	506	V	L	Disease	Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
P28329	CLAT_HUMAN	392	A	G	Polymorphism	-
P28329	CLAT_HUMAN	482	R	G	Disease	Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
P28329	CLAT_HUMAN	299	P	L	Polymorphism	-
P28329	CLAT_HUMAN	441	E	K	Disease	Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
P28329	CLAT_HUMAN	120	A	T	Polymorphism	-
P28329	CLAT_HUMAN	336	I	T	Disease	Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
P28329	CLAT_HUMAN	211	P	A	Disease	Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
P28329	CLAT_HUMAN	47	D	E	Polymorphism	-
P28329	CLAT_HUMAN	560	R	H	Disease	Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
P28329	CLAT_HUMAN	305	I	T	Disease	Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
P28329	CLAT_HUMAN	400	D	N	Polymorphism	-
P28329	CLAT_HUMAN	210	L	P	Disease	Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
P28329	CLAT_HUMAN	222	R	P	Polymorphism	-
P28329	CLAT_HUMAN	243	L	F	Polymorphism	-
P28330	ACADL_HUMAN	303	S	T	Polymorphism	-
P28330	ACADL_HUMAN	333	K	Q	Polymorphism	-
P28331	NDUS1_HUMAN	241	R	Q	Polymorphism	-
P28331	NDUS1_HUMAN	241	R	W	Disease	Mitochondrial complex I deficiency, nuclear type 5 (MC1DN5) [MIM:618226]
P28331	NDUS1_HUMAN	649	V	F	Polymorphism	-
P28331	NDUS1_HUMAN	252	D	G	Disease	Mitochondrial complex I deficiency, nuclear type 5 (MC1DN5) [MIM:618226]
P28331	NDUS1_HUMAN	253	V	G	Polymorphism	-
P28332	ADH6_HUMAN	151	T	P	Polymorphism	-
P28332	ADH6_HUMAN	102	C	G	Polymorphism	-
P28332	ADH6_HUMAN	114	I	V	Polymorphism	-
P28335	5HT2C_HUMAN	160	I	V	Polymorphism	-
P28335	5HT2C_HUMAN	158	N	S	Unclassified	-
P28335	5HT2C_HUMAN	156	I	V	Unclassified	-
P28335	5HT2C_HUMAN	23	C	S	Polymorphism	-
P28336	NMBR_HUMAN	390	L	M	Polymorphism	-
P28340	DPOD1_HUMAN	30	R	W	Polymorphism	-
P28340	DPOD1_HUMAN	19	R	H	Polymorphism	-
P28340	DPOD1_HUMAN	1086	R	Q	Polymorphism	-
P28340	DPOD1_HUMAN	474	L	P	Disease	Colorectal cancer 10 (CRCS10) [MIM:612591]
P28340	DPOD1_HUMAN	461	Q	H	Unclassified	-
P28340	DPOD1_HUMAN	347	P	L	Polymorphism	-
P28340	DPOD1_HUMAN	177	R	H	Polymorphism	-
P28340	DPOD1_HUMAN	145	A	D	Unclassified	-
P28340	DPOD1_HUMAN	173	S	N	Polymorphism	-
P28340	DPOD1_HUMAN	5	R	W	Polymorphism	-
P28340	DPOD1_HUMAN	787	P	L	Polymorphism	-
P28340	DPOD1_HUMAN	478	S	N	Disease	Colorectal cancer 10 (CRCS10) [MIM:612591]
P28340	DPOD1_HUMAN	849	R	H	Polymorphism	-
P28340	DPOD1_HUMAN	119	R	H	Polymorphism	-
P28340	DPOD1_HUMAN	21	G	C	Polymorphism	-
P28340	DPOD1_HUMAN	864	A	T	Polymorphism	-
P28340	DPOD1_HUMAN	808	R	H	Polymorphism	-
P28347	TEAD1_HUMAN	421	Y	H	Disease	Sveinsson chorioretinal atrophy (SCRA) [MIM:108985]
P28358	HXD10_HUMAN	319	M	K	Disease	Vertical talus, congenital (CVT) [MIM:192950]
P28360	MSX1_HUMAN	122	G	E	Disease	Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]
P28360	MSX1_HUMAN	202	R	P	Disease	Tooth agenesis, selective, 1 (STHAG1) [MIM:106600]
P28360	MSX1_HUMAN	67	M	K	Disease	Tooth agenesis, selective, 1 (STHAG1) [MIM:106600]
P28360	MSX1_HUMAN	120	V	G	Disease	Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]
P28360	MSX1_HUMAN	157	R	S	Disease	Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]
P28360	MSX1_HUMAN	84	E	V	Disease	Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]
P28360	MSX1_HUMAN	97	G	D	Disease	Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]
P28370	SMCA1_HUMAN	656	Q	R	Polymorphism	-
P28370	SMCA1_HUMAN	978	G	V	Unclassified	-
P28472	GBRB3_HUMAN	305	A	T	Disease	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]
P28472	GBRB3_HUMAN	249	Q	K	Disease	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]
P28472	GBRB3_HUMAN	256	L	Q	Disease	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]
P28472	GBRB3_HUMAN	124	L	F	Disease	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]
P28472	GBRB3_HUMAN	287	T	I	Disease	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]
P28472	GBRB3_HUMAN	120	D	N	Disease	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]
P28472	GBRB3_HUMAN	173	Q	L	Polymorphism	-
P28472	GBRB3_HUMAN	254	S	F	Disease	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]
P28472	GBRB3_HUMAN	217	R	H	Polymorphism	-
P28472	GBRB3_HUMAN	182	Y	F	Disease	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]
P28472	GBRB3_HUMAN	293	L	H	Unclassified	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]
P28472	GBRB3_HUMAN	232	R	Q	Unclassified	-
P28472	GBRB3_HUMAN	32	G	R	Disease	Epilepsy, childhood absence 5 (ECA5) [MIM:612269]
P28472	GBRB3_HUMAN	157	T	M	Unclassified	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]
P28562	DUS1_HUMAN	187	Y	H	Polymorphism	-
P28562	DUS1_HUMAN	56	A	T	Polymorphism	-
P28566	5HT1E_HUMAN	262	S	F	Polymorphism	-
P28566	5HT1E_HUMAN	208	A	T	Polymorphism	-
P28676	GRAN_HUMAN	80	S	A	Polymorphism	-
P28698	MZF1_HUMAN	331	I	V	Polymorphism	-
P28698	MZF1_HUMAN	441	R	P	Polymorphism	-
P28698	MZF1_HUMAN	51	R	H	Polymorphism	-
P28698	MZF1_HUMAN	130	R	Q	Polymorphism	-
P28698	MZF1_HUMAN	103	R	H	Polymorphism	-
P28715	ERCC5_HUMAN	1009	R	H	Polymorphism	-
P28715	ERCC5_HUMAN	1053	G	R	Polymorphism	-
P28715	ERCC5_HUMAN	590	V	I	Polymorphism	-
P28715	ERCC5_HUMAN	792	A	V	Disease	Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]
P28715	ERCC5_HUMAN	181	H	R	Polymorphism	-
P28715	ERCC5_HUMAN	1080	G	Q	Polymorphism	-
P28715	ERCC5_HUMAN	670	F	L	Polymorphism	-
P28715	ERCC5_HUMAN	597	V	L	Polymorphism	-
P28715	ERCC5_HUMAN	529	C	S	Polymorphism	-
P28715	ERCC5_HUMAN	968	W	C	Disease	Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]
P28715	ERCC5_HUMAN	1080	G	R	Polymorphism	-
P28715	ERCC5_HUMAN	680	Q	R	Polymorphism	-
P28715	ERCC5_HUMAN	1119	A	V	Polymorphism	-
P28715	ERCC5_HUMAN	858	L	P	Disease	Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]
P28715	ERCC5_HUMAN	72	P	H	Disease	Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]
P28715	ERCC5_HUMAN	145	V	I	Polymorphism	-
P28715	ERCC5_HUMAN	399	E	K	Polymorphism	-
P28715	ERCC5_HUMAN	874	A	T	Disease	Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]
P28715	ERCC5_HUMAN	256	Q	R	Polymorphism	-
P28715	ERCC5_HUMAN	311	S	C	Polymorphism	-
P28715	ERCC5_HUMAN	28	A	D	Disease	Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]
P28715	ERCC5_HUMAN	879	N	S	Polymorphism	-
P28715	ERCC5_HUMAN	254	M	V	Polymorphism	-
P28715	ERCC5_HUMAN	1104	D	H	Polymorphism	-
P28749	RBL1_HUMAN	1035	I	M	Polymorphism	-
P28799	GRN_HUMAN	221	C	S	Polymorphism	-
P28799	GRN_HUMAN	376	D	N	Polymorphism	-
P28799	GRN_HUMAN	275	P	L	Polymorphism	-
P28799	GRN_HUMAN	69	A	T	Polymorphism	-
P28799	GRN_HUMAN	398	S	L	Polymorphism	-
P28799	GRN_HUMAN	120	S	Y	Polymorphism	-
P28799	GRN_HUMAN	9	A	D	Disease	Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]
P28799	GRN_HUMAN	55	R	W	Polymorphism	-
P28799	GRN_HUMAN	19	R	W	Polymorphism	-
P28799	GRN_HUMAN	433	R	Q	Polymorphism	-
P28799	GRN_HUMAN	182	T	M	Polymorphism	-
P28799	GRN_HUMAN	515	G	A	Polymorphism	-
P28799	GRN_HUMAN	564	R	H	Polymorphism	-
P28827	PTPRM_HUMAN	39	S	R	Polymorphism	-
P28845	DHI1_HUMAN	148	V	E	Unclassified	A breast cancer sample
P28906	CD34_HUMAN	367	A	S	Polymorphism	-
P28907	CD38_HUMAN	140	R	W	Polymorphism	-
P28908	TNR8_HUMAN	297	C	R	Polymorphism	-
P28908	TNR8_HUMAN	273	C	F	Polymorphism	-
P28908	TNR8_HUMAN	314	P	S	Polymorphism	-
P28908	TNR8_HUMAN	273	C	Y	Polymorphism	-
P28908	TNR8_HUMAN	402	S	G	Polymorphism	-
P28908	TNR8_HUMAN	466	Q	R	Polymorphism	-
P29017	CD1C_HUMAN	70	N	T	Polymorphism	-
P29017	CD1C_HUMAN	300	F	S	Polymorphism	-
P29033	CXB2_HUMAN	84	V	M	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	80	Q	K	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	165	R	W	Polymorphism	-
P29033	CXB2_HUMAN	75	R	W	Disease	Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033	CXB2_HUMAN	127	R	H	Polymorphism	-
P29033	CXB2_HUMAN	197	A	S	Disease	Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033	CXB2_HUMAN	143	R	Q	Disease	Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033	CXB2_HUMAN	202	C	F	Disease	Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033	CXB2_HUMAN	159	D	V	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	59	G	S	Disease	Knuckle pads, leukonychia, and sensorineural deafness (KPLD) [MIM:149200]
P29033	CXB2_HUMAN	54	N	K	Disease	Knuckle pads, leukonychia, and sensorineural deafness (KPLD) [MIM:149200]
P29033	CXB2_HUMAN	168	K	R	Unclassified	-
P29033	CXB2_HUMAN	184	R	Q	Disease	Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033	CXB2_HUMAN	73	H	R	Disease	Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]
P29033	CXB2_HUMAN	12	G	R	Disease	Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
P29033	CXB2_HUMAN	184	R	P	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	178	V	A	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	32	R	H	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	79	L	P	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	27	V	I	Polymorphism	-
P29033	CXB2_HUMAN	111	I	T	Polymorphism	-
P29033	CXB2_HUMAN	130	G	V	Disease	Vohwinkel syndrome (VOWNKL) [MIM:124500]
P29033	CXB2_HUMAN	50	D	Y	Disease	Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
P29033	CXB2_HUMAN	130	G	A	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	114	E	G	Polymorphism	-
P29033	CXB2_HUMAN	32	R	L	Polymorphism	-
P29033	CXB2_HUMAN	59	G	A	Disease	Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]
P29033	CXB2_HUMAN	90	L	P	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	214	L	P	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	143	R	W	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	93	M	I	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	46	D	E	Disease	Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033	CXB2_HUMAN	130	G	D	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	148	A	P	Polymorphism	-
P29033	CXB2_HUMAN	117	D	H	Polymorphism	-
P29033	CXB2_HUMAN	66	D	H	Disease	Vohwinkel syndrome (VOWNKL) [MIM:124500]
P29033	CXB2_HUMAN	75	R	W	Disease	Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]
P29033	CXB2_HUMAN	50	D	N	Disease	Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]
P29033	CXB2_HUMAN	34	M	T	Unclassified	-
P29033	CXB2_HUMAN	44	W	S	Disease	Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033	CXB2_HUMAN	129	E	K	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	86	T	R	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	95	V	M	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	71	I	T	Polymorphism	-
P29033	CXB2_HUMAN	77	W	R	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	37	V	I	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	179	D	N	Disease	Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033	CXB2_HUMAN	113	S	R	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	167	V	M	Polymorphism	-
P29033	CXB2_HUMAN	203	I	T	Polymorphism	-
P29033	CXB2_HUMAN	191	F	L	Polymorphism	-
P29033	CXB2_HUMAN	184	R	W	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	169	C	Y	Polymorphism	-
P29033	CXB2_HUMAN	75	R	Q	Disease	Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]
P29033	CXB2_HUMAN	44	W	C	Disease	Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033	CXB2_HUMAN	153	V	I	Polymorphism	-
P29033	CXB2_HUMAN	45	G	E	Polymorphism	-
P29033	CXB2_HUMAN	84	V	L	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	203	I	K	Disease	Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033	CXB2_HUMAN	123	T	N	Polymorphism	-
P29033	CXB2_HUMAN	17	S	F	Disease	Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
P29033	CXB2_HUMAN	160	G	S	Polymorphism	-
P29033	CXB2_HUMAN	66	D	H	Disease	Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]
P29033	CXB2_HUMAN	50	D	N	Disease	Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
P29033	CXB2_HUMAN	83	F	L	Polymorphism	-
P29074	PTN4_HUMAN	924	T	S	Polymorphism	-
P29083	T2EA_HUMAN	366	P	S	Polymorphism	-
P29084	T2EB_HUMAN	187	D	Y	Disease	Trichothiodystrophy 6, non-photosensitive (TTD6) [MIM:616943]
P29084	T2EB_HUMAN	183	K	R	Polymorphism	-
P29084	T2EB_HUMAN	150	A	P	Disease	Trichothiodystrophy 6, non-photosensitive (TTD6) [MIM:616943]
P29084	T2EB_HUMAN	133	I	T	Polymorphism	-
P29120	NEC1_HUMAN	483	G	R	Disease	Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]
P29120	NEC1_HUMAN	690	S	T	Polymorphism	-
P29120	NEC1_HUMAN	307	S	L	Disease	Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]
P29120	NEC1_HUMAN	665	Q	E	Polymorphism	-
P29120	NEC1_HUMAN	221	N	D	Polymorphism	-
P29120	NEC1_HUMAN	80	R	Q	Polymorphism	-
P29122	PCSK6_HUMAN	502	C	R	Polymorphism	-
P29218	IMPA1_HUMAN	109	I	V	Polymorphism	-
P29274	AA2AR_HUMAN	50	A	V	Polymorphism	-
P29274	AA2AR_HUMAN	300	R	H	Polymorphism	-
P29274	AA2AR_HUMAN	392	G	R	Polymorphism	-
P29279	CCN2_HUMAN	83	H	D	Polymorphism	-
P29317	EPHA2_HUMAN	876	R	H	Polymorphism	-
P29317	EPHA2_HUMAN	391	G	R	Polymorphism	-
P29317	EPHA2_HUMAN	511	T	M	Polymorphism	-
P29317	EPHA2_HUMAN	940	T	I	Disease	Cataract 6, multiple types (CTRCT6) [MIM:116600]
P29317	EPHA2_HUMAN	99	K	N	Polymorphism	-
P29317	EPHA2_HUMAN	721	R	Q	Disease	Cataract 6, multiple types (CTRCT6) [MIM:116600]
P29317	EPHA2_HUMAN	568	R	H	Polymorphism	-
P29317	EPHA2_HUMAN	948	G	W	Disease	Cataract 6, multiple types (CTRCT6) [MIM:116600]
P29317	EPHA2_HUMAN	631	M	T	Polymorphism	-
P29317	EPHA2_HUMAN	777	G	S	Unclassified	A gastric adenocarcinoma sample
P29320	EPHA3_HUMAN	933	T	M	Unclassified	A lung carcinoma sample
P29320	EPHA3_HUMAN	590	L	P	Polymorphism	-
P29320	EPHA3_HUMAN	568	C	S	Polymorphism	-
P29320	EPHA3_HUMAN	621	I	L	Unclassified	A colorectal cancer sample
P29320	EPHA3_HUMAN	207	K	N	Unclassified	A pancreatic ductal adenocarcinoma sample
P29320	EPHA3_HUMAN	229	S	Y	Unclassified	A lung large cell carcinoma sample
P29320	EPHA3_HUMAN	777	A	G	Polymorphism	-
P29320	EPHA3_HUMAN	564	I	V	Polymorphism	-
P29320	EPHA3_HUMAN	766	G	E	Unclassified	A lung adenocarcinoma sample
P29320	EPHA3_HUMAN	37	T	K	Unclassified	A colorectal cancer sample
P29320	EPHA3_HUMAN	924	W	R	Polymorphism	-
P29320	EPHA3_HUMAN	518	G	L	Unclassified	A lung squamous cell carcinoma sample
P29320	EPHA3_HUMAN	449	S	F	Unclassified	A lung neuroendocrine carcinoma sample
P29320	EPHA3_HUMAN	660	T	K	Unclassified	A lung carcinoma sample
P29320	EPHA3_HUMAN	914	R	H	Polymorphism	-
P29320	EPHA3_HUMAN	806	D	N	Unclassified	A colorectal cancer sample
P29320	EPHA3_HUMAN	85	N	S	Unclassified	A colorectal cancer sample
P29322	EPHA8_HUMAN	60	V	L	Polymorphism	-
P29322	EPHA8_HUMAN	198	R	L	Unclassified	A lung adenocarcinoma sample
P29322	EPHA8_HUMAN	860	P	L	Unclassified	A metastatic melanoma sample
P29322	EPHA8_HUMAN	123	N	K	Unclassified	A breast infiltrating ductal carcinoma sample
P29322	EPHA8_HUMAN	45	G	S	Polymorphism	-
P29322	EPHA8_HUMAN	179	R	C	Unclassified	A gastric adenocarcinoma sample
P29322	EPHA8_HUMAN	444	V	M	Polymorphism	-
P29322	EPHA8_HUMAN	321	P	L	Polymorphism	-
P29322	EPHA8_HUMAN	612	E	Q	Polymorphism	-
P29323	EPHB2_HUMAN	650	V	A	Disease	Prostate cancer (PC) [MIM:176807]
P29323	EPHB2_HUMAN	289	C	G	Polymorphism	-
P29323	EPHB2_HUMAN	883	M	V	Disease	Prostate cancer (PC) [MIM:176807]
P29323	EPHB2_HUMAN	279	A	S	Disease	Prostate cancer (PC) [MIM:176807]
P29323	EPHB2_HUMAN	678	D	N	Polymorphism	-
P29323	EPHB2_HUMAN	199	R	H	Disease	Prostate cancer (PC) [MIM:176807]
P29323	EPHB2_HUMAN	909	I	M	Disease	Prostate cancer (PC) [MIM:176807]
P29323	EPHB2_HUMAN	679	H	N	Disease	Prostate cancer (PC) [MIM:176807]
P29323	EPHB2_HUMAN	361	I	V	Polymorphism	-
P29323	EPHB2_HUMAN	844	R	W	Polymorphism	-
P29353	SHC1_HUMAN	410	M	V	Polymorphism	-
P29353	SHC1_HUMAN	205	A	V	Polymorphism	-
P29371	NK3R_HUMAN	346	M	V	Disease	Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]
P29371	NK3R_HUMAN	353	P	S	Disease	Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]
P29371	NK3R_HUMAN	137	F	V	Disease	Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]
P29371	NK3R_HUMAN	286	K	R	Polymorphism	-
P29371	NK3R_HUMAN	364	R	Q	Disease	Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]
P29371	NK3R_HUMAN	449	A	T	Polymorphism	-
P29371	NK3R_HUMAN	93	G	D	Disease	Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]
P29372	3MG_HUMAN	93	Q	R	Polymorphism	-
P29372	3MG_HUMAN	71	Y	H	Polymorphism	-
P29372	3MG_HUMAN	141	R	Q	Polymorphism	-
P29372	3MG_HUMAN	64	P	L	Polymorphism	-
P29372	3MG_HUMAN	22	K	Q	Polymorphism	-
P29372	3MG_HUMAN	258	A	V	Polymorphism	-
P29372	3MG_HUMAN	120	R	C	Polymorphism	-
P29372	3MG_HUMAN	298	A	S	Polymorphism	-
P29374	ARI4A_HUMAN	412	H	P	Polymorphism	-
P29374	ARI4A_HUMAN	724	N	S	Polymorphism	-
P29374	ARI4A_HUMAN	779	T	A	Polymorphism	-
P29375	KDM5A_HUMAN	865	M	T	Polymorphism	-
P29375	KDM5A_HUMAN	1190	P	A	Polymorphism	-
P29376	LTK_HUMAN	384	C	R	Polymorphism	-
P29376	LTK_HUMAN	745	P	S	Polymorphism	-
P29376	LTK_HUMAN	763	E	K	Polymorphism	-
P29376	LTK_HUMAN	838	P	S	Polymorphism	-
P29376	LTK_HUMAN	42	R	Q	Polymorphism	-
P29376	LTK_HUMAN	569	R	S	Polymorphism	-
P29376	LTK_HUMAN	535	D	N	Polymorphism	-
P29376	LTK_HUMAN	673	R	Q	Polymorphism	-
P29400	CO4A5_HUMAN	1567	C	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	319	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	365	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1511	R	H	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	409	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1244	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	621	G	C	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	123	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	633	E	K	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1488	S	F	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1211	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	325	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1205	G	C	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	371	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1678	C	W	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	681	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	415	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	579	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	619	P	S	Polymorphism	-
P29400	CO4A5_HUMAN	466	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1677	R	P	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1357	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1677	R	Q	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	331	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	325	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1563	R	Q	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	298	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	219	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	114	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	204	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1220	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	545	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1211	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	609	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	374	G	A	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1167	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1170	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1086	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	624	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1066	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1498	A	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1451	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	545	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	412	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	811	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1036	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1107	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	911	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	383	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1649	L	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1229	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	289	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	722	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	632	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1427	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	629	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1015	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	561	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	472	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	635	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	898	M	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1428	L	M	Polymorphism	-
P29400	CO4A5_HUMAN	1196	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1158	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1066	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	292	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1486	G	A	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	822	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1333	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1261	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	177	G	C	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1039	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	216	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	953	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	947	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	430	A	D	Polymorphism	-
P29400	CO4A5_HUMAN	521	G	C	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	579	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	444	I	S	Polymorphism	-
P29400	CO4A5_HUMAN	1538	W	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1030	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1442	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	739	P	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	264	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	292	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1559	P	A	Polymorphism	-
P29400	CO4A5_HUMAN	739	P	A	Polymorphism	-
P29400	CO4A5_HUMAN	941	G	C	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	400	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	609	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	638	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	129	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	406	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1252	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	740	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	802	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1270	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	872	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	295	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	638	G	A	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	902	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	567	G	A	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	494	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	54	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	573	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1143	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	521	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	491	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1379	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	664	K	N	Polymorphism	-
P29400	CO4A5_HUMAN	1410	R	C	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1182	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	192	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1006	G	A	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	129	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	603	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	558	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	796	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	524	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	866	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1517	P	T	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	239	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1045	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1596	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	174	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1241	G	C	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	653	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1015	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	420	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1006	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	423	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	638	G	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	772	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	669	G	A	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1422	R	C	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1564	C	S	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1104	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	177	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	684	G	V	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	230	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	420	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	497	G	C	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	743	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	808	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1161	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1421	G	W	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	687	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	1143	G	D	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	878	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	852	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	869	G	R	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29400	CO4A5_HUMAN	852	G	E	Disease	Alport syndrome 1, X-linked (ATS1) [MIM:301050]
P29401	TKT_HUMAN	181	I	V	Polymorphism	-
P29401	TKT_HUMAN	318	R	C	Disease	Short stature, developmental delay, and congenital heart defects (SDDHD) [MIM:617044]
P29460	IL12B_HUMAN	298	V	F	Polymorphism	-
P29460	IL12B_HUMAN	33	V	I	Polymorphism	-
P29466	CASP1_HUMAN	15	R	H	Polymorphism	-
P29474	NOS3_HUMAN	665	R	H	Polymorphism	-
P29474	NOS3_HUMAN	112	R	Q	Polymorphism	-
P29474	NOS3_HUMAN	602	R	Q	Polymorphism	-
P29474	NOS3_HUMAN	474	R	C	Polymorphism	-
P29474	NOS3_HUMAN	982	Q	L	Polymorphism	-
P29474	NOS3_HUMAN	827	V	M	Polymorphism	-
P29474	NOS3_HUMAN	885	R	M	Polymorphism	-
P29474	NOS3_HUMAN	298	D	E	Polymorphism	-
P29475	NOS1_HUMAN	228	P	S	Polymorphism	-
P29475	NOS1_HUMAN	394	D	A	Polymorphism	-
P29475	NOS1_HUMAN	725	N	D	Polymorphism	-
P29475	NOS1_HUMAN	864	G	D	Polymorphism	-
P29475	NOS1_HUMAN	1064	Q	R	Polymorphism	-
P29508	SPB3_HUMAN	351	G	A	Polymorphism	-
P29508	SPB3_HUMAN	357	T	A	Polymorphism	-
P29536	LMOD1_HUMAN	295	T	M	Polymorphism	-
P29590	PML_HUMAN	645	F	L	Polymorphism	-
P29597	TYK2_HUMAN	1163	E	G	Polymorphism	-
P29597	TYK2_HUMAN	442	R	Q	Polymorphism	-
P29597	TYK2_HUMAN	386	V	M	Polymorphism	-
P29597	TYK2_HUMAN	197	R	H	Polymorphism	-
P29597	TYK2_HUMAN	81	A	V	Polymorphism	-
P29597	TYK2_HUMAN	928	A	V	Polymorphism	-
P29597	TYK2_HUMAN	1104	P	A	Polymorphism	-
P29597	TYK2_HUMAN	820	P	H	Polymorphism	-
P29597	TYK2_HUMAN	4	R	H	Polymorphism	-
P29597	TYK2_HUMAN	732	H	R	Unclassified	A colorectal adenocarcinoma sample
P29597	TYK2_HUMAN	684	I	S	Polymorphism	-
P29597	TYK2_HUMAN	703	R	W	Polymorphism	-
P29597	TYK2_HUMAN	362	V	F	Polymorphism	-
P29597	TYK2_HUMAN	363	G	S	Polymorphism	-
P29803	ODPAT_HUMAN	376	R	G	Polymorphism	-
P29965	CD40L_HUMAN	144	G	E	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	208	A	D	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	147	T	N	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	254	T	M	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	123	A	E	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	140	W	C	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	176	T	I	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	116	G	R	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	235	A	P	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	38	G	R	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	170	Y	C	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	237	V	E	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	174	Q	R	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	126	V	A	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	257	G	D	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	258	L	S	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	226	G	A	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	143	K	T	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	126	V	D	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	36	M	R	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	219	G	R	Polymorphism	-
P29965	CD40L_HUMAN	140	W	G	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	155	L	P	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	116	G	S	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	140	W	R	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	125	H	R	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	173	A	D	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	231	L	S	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	257	G	S	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	227	G	V	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	195	L	P	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	211	T	N	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29965	CD40L_HUMAN	224	H	Y	Disease	Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
P29966	MARCS_HUMAN	250	P	L	Polymorphism	-
P29966	MARCS_HUMAN	274	A	V	Polymorphism	-
P29972	AQP1_HUMAN	165	G	D	Polymorphism	-
P29972	AQP1_HUMAN	38	P	L	Polymorphism	-
P29972	AQP1_HUMAN	45	A	V	Polymorphism	-
P29973	CNGA1_HUMAN	32	R	Q	Polymorphism	-
P29973	CNGA1_HUMAN	122	N	D	Polymorphism	-
P29973	CNGA1_HUMAN	118	D	N	Polymorphism	-
P29973	CNGA1_HUMAN	320	S	F	Disease	Retinitis pigmentosa 49 (RP49) [MIM:613756]
P29992	GNA11_HUMAN	181	R	Q	Disease	Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]
P29992	GNA11_HUMAN	135	L	Q	Disease	Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981]
P29992	GNA11_HUMAN	60	R	C	Disease	Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]
P29992	GNA11_HUMAN	211	S	W	Disease	Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]
P29992	GNA11_HUMAN	341	F	L	Disease	Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]
P30038	AL4A1_HUMAN	470	V	I	Polymorphism	-
P30038	AL4A1_HUMAN	16	P	L	Polymorphism	-
P30038	AL4A1_HUMAN	473	T	A	Polymorphism	-
P30038	AL4A1_HUMAN	352	S	L	Disease	Hyperprolinemia 2 (HYRPRO2) [MIM:239510]
P30039	PBLD_HUMAN	257	H	R	Polymorphism	-
P30039	PBLD_HUMAN	17	R	C	Polymorphism	-
P30039	PBLD_HUMAN	62	S	I	Polymorphism	-
P30043	BLVRB_HUMAN	46	R	Q	Polymorphism	-
P30044	PRDX5_HUMAN	157	F	L	Unclassified	A breast cancer sample
P30044	PRDX5_HUMAN	33	Y	C	Polymorphism	-
P30048	PRDX3_HUMAN	55	S	R	Polymorphism	-
P30048	PRDX3_HUMAN	234	T	I	Polymorphism	-
P30048	PRDX3_HUMAN	170	R	Q	Polymorphism	-
P30048	PRDX3_HUMAN	218	A	T	Polymorphism	-
P30049	ATPD_HUMAN	106	V	G	Disease	Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5) [MIM:618120]
P30049	ATPD_HUMAN	82	P	L	Disease	Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5) [MIM:618120]
P30084	ECHM_HUMAN	77	E	Q	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	225	C	R	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	159	Q	R	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	158	A	D	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	33	F	S	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	75	T	I	Polymorphism	-
P30084	ECHM_HUMAN	132	A	T	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	195	G	S	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	281	E	G	Unclassified	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	2	A	V	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	66	I	T	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	11	V	A	Polymorphism	-
P30084	ECHM_HUMAN	138	A	V	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	150	D	G	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	90	G	R	Unclassified	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	273	K	E	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	59	N	S	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30084	ECHM_HUMAN	54	R	H	Disease	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
P30086	PEBP1_HUMAN	9	S	N	Polymorphism	-
P30101	PDIA3_HUMAN	415	K	R	Polymorphism	-
P30153	2AAA_HUMAN	132	V	L	Disease	Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362]
P30153	2AAA_HUMAN	179	P	L	Disease	Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362]
P30153	2AAA_HUMAN	182	R	W	Disease	Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362]
P30153	2AAA_HUMAN	258	R	H	Disease	Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362]
P30154	2AAB_HUMAN	504	D	G	Unclassified	A lung cancer patient
P30154	2AAB_HUMAN	343	K	E	Unclassified	A lung cancer patient
P30154	2AAB_HUMAN	545	V	A	Unclassified	A colon adenocarcinoma
P30154	2AAB_HUMAN	15	G	A	Unclassified	A colorectal cancer patient
P30154	2AAB_HUMAN	448	V	A	Unclassified	A colon adenocarcinoma
P30154	2AAB_HUMAN	498	V	E	Unclassified	A colorectal cancer patient
P30154	2AAB_HUMAN	101	L	P	Unclassified	A colon adenocarcinoma
P30154	2AAB_HUMAN	65	P	S	Unclassified	A lung cancer patient
P30154	2AAB_HUMAN	499	L	I	Unclassified	A colorectal cancer patient
P30154	2AAB_HUMAN	365	S	P	Unclassified	A colorectal cancer patient
P30154	2AAB_HUMAN	8	G	R	Unclassified	A lung cancer patient
P30154	2AAB_HUMAN	500	V	G	Unclassified	A colorectal cancer patient
P30154	2AAB_HUMAN	90	G	D	Unclassified	A lung cancer patient
P30203	CD6_HUMAN	271	A	T	Polymorphism	-
P30203	CD6_HUMAN	351	S	N	Polymorphism	-
P30203	CD6_HUMAN	606	G	S	Polymorphism	-
P30203	CD6_HUMAN	217	T	M	Polymorphism	-
P30203	CD6_HUMAN	225	R	W	Polymorphism	-
P30203	CD6_HUMAN	257	A	V	Polymorphism	-
P30260	CDC27_HUMAN	496	Y	H	Polymorphism	-
P30260	CDC27_HUMAN	270	G	A	Unclassified	A breast cancer sample
P30279	CCND2_HUMAN	280	T	N	Disease	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938]
P30279	CCND2_HUMAN	268	G	R	Polymorphism	-
P30279	CCND2_HUMAN	280	T	A	Disease	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938]
P30279	CCND2_HUMAN	284	V	G	Disease	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938]
P30279	CCND2_HUMAN	281	P	L	Disease	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938]
P30279	CCND2_HUMAN	281	P	R	Disease	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938]
P30281	CCND3_HUMAN	134	P	S	Polymorphism	-
P30281	CCND3_HUMAN	253	E	D	Polymorphism	-
P30281	CCND3_HUMAN	259	S	A	Polymorphism	-
P30291	WEE1_HUMAN	472	S	I	Polymorphism	-
P30291	WEE1_HUMAN	210	G	C	Polymorphism	-
P30301	MIP_HUMAN	150	D	H	Disease	Cataract 15, multiple types (CTRCT15) [MIM:615274]
P30301	MIP_HUMAN	233	R	K	Disease	Cataract 15, multiple types (CTRCT15) [MIM:615274]
P30301	MIP_HUMAN	138	T	R	Disease	Cataract 15, multiple types (CTRCT15) [MIM:615274]
P30301	MIP_HUMAN	33	R	C	Disease	Cataract 15, multiple types (CTRCT15) [MIM:615274]
P30301	MIP_HUMAN	107	V	I	Disease	Cataract 15, multiple types (CTRCT15) [MIM:615274]
P30301	MIP_HUMAN	187	R	C	Disease	Cataract 15, multiple types (CTRCT15) [MIM:615274]
P30301	MIP_HUMAN	165	G	D	Disease	Cataract 15, multiple types (CTRCT15) [MIM:615274]
P30301	MIP_HUMAN	134	E	G	Disease	Cataract 15, multiple types (CTRCT15) [MIM:615274]
P30304	MPIP1_HUMAN	182	R	G	Polymorphism	-
P30304	MPIP1_HUMAN	182	R	W	Polymorphism	-
P30304	MPIP1_HUMAN	88	S	F	Polymorphism	-
P30305	MPIP2_HUMAN	548	E	K	Polymorphism	-
P30307	MPIP3_HUMAN	78	S	N	Polymorphism	-
P30307	MPIP3_HUMAN	14	S	N	Polymorphism	-
P30307	MPIP3_HUMAN	297	G	R	Polymorphism	-
P30307	MPIP3_HUMAN	70	R	C	Polymorphism	-
P30411	BKRB2_HUMAN	354	G	E	Polymorphism	-
P30411	BKRB2_HUMAN	14	R	C	Polymorphism	-
P30414	NKTR_HUMAN	271	V	G	Polymorphism	-
P30414	NKTR_HUMAN	1182	M	T	Polymorphism	-
P30414	NKTR_HUMAN	861	L	V	Polymorphism	-
P30414	NKTR_HUMAN	935	S	L	Polymorphism	-
P30419	NMT1_HUMAN	61	Q	K	Polymorphism	-
P30443	1A01_HUMAN	114	D	A	Polymorphism	-
P30443	1A01_HUMAN	205	R	H	Polymorphism	-
P30443	1A01_HUMAN	100	A	E	Polymorphism	-
P30443	1A01_HUMAN	182	V	A	Polymorphism	-
P30443	1A01_HUMAN	89	R	G	Polymorphism	-
P30443	1A01_HUMAN	169	R	H	Polymorphism	-
P30443	1A01_HUMAN	151	N	K	Polymorphism	-
P30443	1A01_HUMAN	180	R	L	Polymorphism	-
P30443	1A01_HUMAN	33	F	S	Polymorphism	-
P30443	1A01_HUMAN	80	G	R	Polymorphism	-
P30443	1A01_HUMAN	91	M	V	Polymorphism	-
P30443	1A01_HUMAN	133	F	L	Polymorphism	-
P30443	1A01_HUMAN	41	R	S	Polymorphism	-
P30443	1A01_HUMAN	131	G	W	Polymorphism	-
P30443	1A01_HUMAN	121	I	M	Polymorphism	-
P30443	1A01_HUMAN	166	I	T	Polymorphism	-
P30447	1A23_HUMAN	205	R	H	Polymorphism	-
P30447	1A23_HUMAN	180	L	W	Polymorphism	-
P30447	1A23_HUMAN	151	K	N	Polymorphism	-
P30447	1A23_HUMAN	31	Y	C	Polymorphism	-
P30450	1A26_HUMAN	89	R	G	Polymorphism	-
P30450	1A26_HUMAN	180	W	R	Polymorphism	-
P30450	1A26_HUMAN	101	N	D	Polymorphism	-
P30450	1A26_HUMAN	60	F	L	Polymorphism	-
P30450	1A26_HUMAN	133	F	L	Polymorphism	-
P30450	1A26_HUMAN	169	R	H	Polymorphism	-
P30450	1A26_HUMAN	94	H	Q	Polymorphism	-
P30450	1A26_HUMAN	166	I	T	Polymorphism	-
P30450	1A26_HUMAN	151	N	K	Polymorphism	-
P30450	1A26_HUMAN	90	N	K	Polymorphism	-
P30450	1A26_HUMAN	306	I	V	Polymorphism	-
P30450	1A26_HUMAN	185	E	D	Polymorphism	-
P30450	1A26_HUMAN	129	P	S	Polymorphism	-
P30450	1A26_HUMAN	140	D	N	Polymorphism	-
P30450	1A26_HUMAN	100	A	E	Polymorphism	-
P30450	1A26_HUMAN	180	W	Q	Polymorphism	-
P30450	1A26_HUMAN	131	G	W	Polymorphism	-
P30450	1A26_HUMAN	176	E	V	Polymorphism	-
P30450	1A26_HUMAN	187	R	L	Polymorphism	-
P30453	1A34_HUMAN	151	N	K	Polymorphism	-
P30453	1A34_HUMAN	166	I	T	Polymorphism	-
P30453	1A34_HUMAN	90	K	N	Polymorphism	-
P30453	1A34_HUMAN	3	I	V	Polymorphism	-
P30453	1A34_HUMAN	121	R	I	Polymorphism	-
P30453	1A34_HUMAN	101	D	N	Polymorphism	-
P30453	1A34_HUMAN	180	W	L	Polymorphism	-
P30453	1A34_HUMAN	312	L	I	Polymorphism	-
P30453	1A34_HUMAN	138	Q	R	Polymorphism	-
P30453	1A34_HUMAN	129	P	S	Polymorphism	-
P30455	1A36_HUMAN	185	E	D	Polymorphism	-
P30455	1A36_HUMAN	89	R	G	Polymorphism	-
P30455	1A36_HUMAN	166	I	T	Polymorphism	-
P30455	1A36_HUMAN	131	G	W	Polymorphism	-
P30455	1A36_HUMAN	151	N	K	Polymorphism	-
P30455	1A36_HUMAN	133	F	L	Polymorphism	-
P30455	1A36_HUMAN	205	R	H	Polymorphism	-
P30455	1A36_HUMAN	169	R	H	Polymorphism	-
P30455	1A36_HUMAN	182	V	A	Polymorphism	-
P30456	1A43_HUMAN	151	N	K	Polymorphism	-
P30456	1A43_HUMAN	166	I	T	Polymorphism	-
P30457	1A66_HUMAN	166	I	T	Polymorphism	-
P30457	1A66_HUMAN	101	D	N	Polymorphism	-
P30457	1A66_HUMAN	151	N	K	Polymorphism	-
P30457	1A66_HUMAN	28	S	W	Polymorphism	-
P30457	1A66_HUMAN	89	R	G	Polymorphism	-
P30457	1A66_HUMAN	187	R	E	Polymorphism	-
P30457	1A66_HUMAN	114	D	A	Polymorphism	-
P30459	1A74_HUMAN	103	G	A	Polymorphism	-
P30459	1A74_HUMAN	151	N	K	Polymorphism	-
P30459	1A74_HUMAN	23	R	W	Polymorphism	-
P30459	1A74_HUMAN	166	I	T	Polymorphism	-
P30459	1A74_HUMAN	90	N	K	Polymorphism	-
P30459	1A74_HUMAN	97	T	A	Polymorphism	-
P30459	1A74_HUMAN	86	Q	G	Polymorphism	-
P30459	1A74_HUMAN	89	R	G	Polymorphism	-
P30460	1B08_HUMAN	98	D	Y	Polymorphism	-
P30460	1B08_HUMAN	17	L	V	Polymorphism	-
P30460	1B08_HUMAN	101	S	N	Polymorphism	-
P30460	1B08_HUMAN	306	V	I	Polymorphism	-
P30460	1B08_HUMAN	4	M	T	Polymorphism	-
P30460	1B08_HUMAN	48	S	P	Polymorphism	-
P30460	1B08_HUMAN	137	H	Y	Polymorphism	-
P30460	1B08_HUMAN	91	F	S	Polymorphism	-
P30460	1B08_HUMAN	140	Y	D	Polymorphism	-
P30460	1B08_HUMAN	155	R	S	Polymorphism	-
P30460	1B08_HUMAN	87	N	K	Polymorphism	-
P30460	1B08_HUMAN	176	V	E	Polymorphism	-
P30460	1B08_HUMAN	349	C	Y	Polymorphism	-
P30460	1B08_HUMAN	121	S	T	Polymorphism	-
P30460	1B08_HUMAN	349	C	S	Polymorphism	-
P30460	1B08_HUMAN	87	N	D	Polymorphism	-
P30460	1B08_HUMAN	180	D	R	Polymorphism	-
P30460	1B08_HUMAN	138	N	D	Polymorphism	-
P30460	1B08_HUMAN	65	A	T	Polymorphism	-
P30460	1B08_HUMAN	180	D	L	Polymorphism	-
P30460	1B08_HUMAN	119	L	W	Polymorphism	-
P30460	1B08_HUMAN	9	V	L	Polymorphism	-
P30460	1B08_HUMAN	48	S	T	Polymorphism	-
P30460	1B08_HUMAN	48	S	A	Polymorphism	-
P30460	1B08_HUMAN	121	S	R	Polymorphism	-
P30460	1B08_HUMAN	329	A	T	Polymorphism	-
P30460	1B08_HUMAN	97	T	A	Polymorphism	-
P30461	1B13_HUMAN	187	E	L	Polymorphism	-
P30461	1B13_HUMAN	349	C	S	Polymorphism	-
P30461	1B13_HUMAN	121	T	R	Polymorphism	-
P30461	1B13_HUMAN	138	N	D	Polymorphism	-
P30461	1B13_HUMAN	183	Y	C	Polymorphism	-
P30461	1B13_HUMAN	140	L	S	Polymorphism	-
P30461	1B13_HUMAN	349	C	Y	Polymorphism	-
P30461	1B13_HUMAN	329	A	T	Polymorphism	-
P30461	1B13_HUMAN	306	V	I	Polymorphism	-
P30461	1B13_HUMAN	169	L	R	Polymorphism	-
P30462	1B14_HUMAN	180	L	R	Polymorphism	-
P30462	1B14_HUMAN	48	S	P	Polymorphism	-
P30462	1B14_HUMAN	48	S	T	Polymorphism	-
P30462	1B14_HUMAN	87	N	K	Polymorphism	-
P30462	1B14_HUMAN	97	T	A	Polymorphism	-
P30462	1B14_HUMAN	87	N	D	Polymorphism	-
P30462	1B14_HUMAN	329	A	T	Polymorphism	-
P30462	1B14_HUMAN	65	A	T	Polymorphism	-
P30462	1B14_HUMAN	48	S	A	Polymorphism	-
P30462	1B14_HUMAN	4	M	T	Polymorphism	-
P30462	1B14_HUMAN	17	L	V	Polymorphism	-
P30462	1B14_HUMAN	35	S	A	Polymorphism	-
P30462	1B14_HUMAN	36	V	M	Polymorphism	-
P30462	1B14_HUMAN	9	V	L	Polymorphism	-
P30462	1B14_HUMAN	306	V	I	Polymorphism	-
P30462	1B14_HUMAN	98	D	Y	Polymorphism	-
P30464	1B15_HUMAN	121	R	T	Polymorphism	-
P30464	1B15_HUMAN	87	E	N	Polymorphism	-
P30464	1B15_HUMAN	91	S	C	Polymorphism	-
P30464	1B15_HUMAN	119	L	W	Polymorphism	-
P30464	1B15_HUMAN	91	S	Y	Polymorphism	-
P30464	1B15_HUMAN	180	W	L	Polymorphism	-
P30464	1B15_HUMAN	137	H	Y	Polymorphism	-
P30464	1B15_HUMAN	48	A	S	Polymorphism	-
P30464	1B15_HUMAN	274	P	L	Polymorphism	-
P30466	1B18_HUMAN	87	N	E	Polymorphism	-
P30466	1B18_HUMAN	121	R	N	Polymorphism	-
P30466	1B18_HUMAN	98	Y	D	Polymorphism	-
P30466	1B18_HUMAN	180	L	R	Polymorphism	-
P30466	1B18_HUMAN	195	H	Y	Polymorphism	-
P30466	1B18_HUMAN	187	T	E	Polymorphism	-
P30466	1B18_HUMAN	91	S	F	Polymorphism	-
P30475	1B39_HUMAN	140	F	S	Polymorphism	-
P30475	1B39_HUMAN	87	N	D	Polymorphism	-
P30475	1B39_HUMAN	98	D	Y	Polymorphism	-
P30475	1B39_HUMAN	119	L	W	Polymorphism	-
P30475	1B39_HUMAN	17	L	V	Polymorphism	-
P30475	1B39_HUMAN	65	A	T	Polymorphism	-
P30475	1B39_HUMAN	48	S	P	Polymorphism	-
P30475	1B39_HUMAN	138	N	D	Polymorphism	-
P30475	1B39_HUMAN	123	Y	S	Polymorphism	-
P30475	1B39_HUMAN	33	Y	D	Polymorphism	-
P30475	1B39_HUMAN	35	S	A	Polymorphism	-
P30475	1B39_HUMAN	97	T	A	Polymorphism	-
P30475	1B39_HUMAN	4	M	T	Polymorphism	-
P30475	1B39_HUMAN	122	M	T	Polymorphism	-
P30475	1B39_HUMAN	121	R	T	Polymorphism	-
P30475	1B39_HUMAN	180	L	R	Polymorphism	-
P30475	1B39_HUMAN	9	V	L	Polymorphism	-
P30475	1B39_HUMAN	121	R	S	Polymorphism	-
P30475	1B39_HUMAN	48	S	T	Polymorphism	-
P30475	1B39_HUMAN	36	V	M	Polymorphism	-
P30475	1B39_HUMAN	91	C	Y	Polymorphism	-
P30475	1B39_HUMAN	48	S	A	Polymorphism	-
P30475	1B39_HUMAN	168	Q	R	Polymorphism	-
P30475	1B39_HUMAN	329	A	T	Polymorphism	-
P30475	1B39_HUMAN	87	N	K	Polymorphism	-
P30475	1B39_HUMAN	306	V	I	Polymorphism	-
P30475	1B39_HUMAN	87	N	E	Polymorphism	-
P30475	1B39_HUMAN	91	C	S	Polymorphism	-
P30479	1B41_HUMAN	155	R	S	Polymorphism	-
P30479	1B41_HUMAN	349	C	Y	Polymorphism	-
P30479	1B41_HUMAN	349	C	S	Polymorphism	-
P30479	1B41_HUMAN	9	V	L	Polymorphism	-
P30479	1B41_HUMAN	104	N	K	Polymorphism	-
P30479	1B41_HUMAN	119	W	L	Polymorphism	-
P30479	1B41_HUMAN	127	V	L	Polymorphism	-
P30479	1B41_HUMAN	17	L	V	Polymorphism	-
P30479	1B41_HUMAN	329	A	T	Polymorphism	-
P30479	1B41_HUMAN	121	R	S	Polymorphism	-
P30479	1B41_HUMAN	306	V	I	Polymorphism	-
P30479	1B41_HUMAN	138	N	D	Polymorphism	-
P30480	1B42_HUMAN	9	V	L	Polymorphism	-
P30480	1B42_HUMAN	349	C	Y	Polymorphism	-
P30480	1B42_HUMAN	97	T	A	Polymorphism	-
P30480	1B42_HUMAN	35	S	A	Polymorphism	-
P30480	1B42_HUMAN	349	C	S	Polymorphism	-
P30480	1B42_HUMAN	48	S	A	Polymorphism	-
P30480	1B42_HUMAN	36	V	M	Polymorphism	-
P30480	1B42_HUMAN	306	V	I	Polymorphism	-
P30480	1B42_HUMAN	87	N	K	Polymorphism	-
P30480	1B42_HUMAN	101	S	N	Polymorphism	-
P30480	1B42_HUMAN	87	N	D	Polymorphism	-
P30480	1B42_HUMAN	48	S	P	Polymorphism	-
P30480	1B42_HUMAN	98	D	Y	Polymorphism	-
P30480	1B42_HUMAN	48	S	T	Polymorphism	-
P30480	1B42_HUMAN	4	M	T	Polymorphism	-
P30480	1B42_HUMAN	329	A	T	Polymorphism	-
P30480	1B42_HUMAN	65	A	T	Polymorphism	-
P30480	1B42_HUMAN	155	R	S	Polymorphism	-
P30480	1B42_HUMAN	17	L	V	Polymorphism	-
P30480	1B42_HUMAN	33	Y	H	Polymorphism	-
P30480	1B42_HUMAN	137	H	Y	Polymorphism	-
P30481	1B44_HUMAN	349	C	S	Polymorphism	-
P30481	1B44_HUMAN	65	T	A	Polymorphism	-
P30481	1B44_HUMAN	180	D	R	Polymorphism	-
P30481	1B44_HUMAN	180	D	L	Polymorphism	-
P30481	1B44_HUMAN	101	N	S	Polymorphism	-
P30481	1B44_HUMAN	329	A	T	Polymorphism	-
P30481	1B44_HUMAN	187	L	T	Polymorphism	-
P30481	1B44_HUMAN	306	V	I	Polymorphism	-
P30481	1B44_HUMAN	140	D	Y	Polymorphism	-
P30481	1B44_HUMAN	85	D	E	Polymorphism	-
P30481	1B44_HUMAN	87	E	N	Polymorphism	-
P30483	1B45_HUMAN	191	S	W	Polymorphism	-
P30483	1B45_HUMAN	139	Q	R	Polymorphism	-
P30483	1B45_HUMAN	17	L	V	Polymorphism	-
P30483	1B45_HUMAN	9	V	L	Polymorphism	-
P30484	1B46_HUMAN	98	D	G	Polymorphism	-
P30485	1B47_HUMAN	329	A	T	Polymorphism	-
P30485	1B47_HUMAN	104	T	N	Polymorphism	-
P30485	1B47_HUMAN	349	C	S	Polymorphism	-
P30485	1B47_HUMAN	101	D	S	Polymorphism	-
P30485	1B47_HUMAN	306	V	I	Polymorphism	-
P30485	1B47_HUMAN	349	C	Y	Polymorphism	-
P30486	1B48_HUMAN	349	C	S	Polymorphism	-
P30486	1B48_HUMAN	4	M	T	Polymorphism	-
P30486	1B48_HUMAN	187	E	Q	Polymorphism	-
P30486	1B48_HUMAN	137	H	Y	Polymorphism	-
P30486	1B48_HUMAN	306	V	I	Polymorphism	-
P30486	1B48_HUMAN	36	V	M	Polymorphism	-
P30486	1B48_HUMAN	187	E	K	Polymorphism	-
P30486	1B48_HUMAN	349	C	Y	Polymorphism	-
P30486	1B48_HUMAN	329	A	T	Polymorphism	-
P30486	1B48_HUMAN	65	A	T	Polymorphism	-
P30486	1B48_HUMAN	187	E	G	Polymorphism	-
P30486	1B48_HUMAN	48	S	A	Polymorphism	-
P30486	1B48_HUMAN	187	E	V	Polymorphism	-
P30486	1B48_HUMAN	121	S	R	Polymorphism	-
P30486	1B48_HUMAN	48	S	P	Polymorphism	-
P30486	1B48_HUMAN	187	E	A	Polymorphism	-
P30486	1B48_HUMAN	48	S	T	Polymorphism	-
P30486	1B48_HUMAN	155	R	S	Polymorphism	-
P30486	1B48_HUMAN	9	V	L	Polymorphism	-
P30486	1B48_HUMAN	35	S	A	Polymorphism	-
P30486	1B48_HUMAN	17	L	V	Polymorphism	-
P30486	1B48_HUMAN	101	S	N	Polymorphism	-
P30486	1B48_HUMAN	195	Y	H	Polymorphism	-
P30487	1B49_HUMAN	69	K	T	Polymorphism	-
P30487	1B49_HUMAN	65	T	A	Polymorphism	-
P30487	1B49_HUMAN	9	V	L	Polymorphism	-
P30487	1B49_HUMAN	56	L	Q	Polymorphism	-
P30487	1B49_HUMAN	17	L	V	Polymorphism	-
P30487	1B49_HUMAN	104	I	T	Polymorphism	-
P30487	1B49_HUMAN	48	T	A	Polymorphism	-
P30488	1B50_HUMAN	17	L	V	Polymorphism	-
P30488	1B50_HUMAN	9	V	L	Polymorphism	-
P30488	1B50_HUMAN	127	L	V	Polymorphism	-
P30488	1B50_HUMAN	191	W	S	Polymorphism	-
P30490	1B52_HUMAN	195	H	Y	Polymorphism	-
P30490	1B52_HUMAN	176	E	V	Polymorphism	-
P30491	1B53_HUMAN	176	V	E	Polymorphism	-
P30491	1B53_HUMAN	118	I	T	Polymorphism	-
P30491	1B53_HUMAN	127	L	V	Polymorphism	-
P30491	1B53_HUMAN	195	Y	H	Polymorphism	-
P30491	1B53_HUMAN	123	Y	S	Polymorphism	-
P30491	1B53_HUMAN	140	S	F	Polymorphism	-
P30491	1B53_HUMAN	101	N	D	Polymorphism	-
P30491	1B53_HUMAN	101	N	S	Polymorphism	-
P30492	1B54_HUMAN	87	N	K	Polymorphism	-
P30492	1B54_HUMAN	101	S	N	Polymorphism	-
P30492	1B54_HUMAN	98	D	Y	Polymorphism	-
P30492	1B54_HUMAN	87	N	D	Polymorphism	-
P30492	1B54_HUMAN	33	Y	H	Polymorphism	-
P30492	1B54_HUMAN	97	T	A	Polymorphism	-
P30493	1B55_HUMAN	119	W	L	Polymorphism	-
P30493	1B55_HUMAN	140	L	Y	Polymorphism	-
P30493	1B55_HUMAN	87	N	D	Polymorphism	-
P30493	1B55_HUMAN	155	S	R	Polymorphism	-
P30493	1B55_HUMAN	127	L	V	Polymorphism	-
P30493	1B55_HUMAN	176	E	V	Polymorphism	-
P30493	1B55_HUMAN	101	S	N	Polymorphism	-
P30493	1B55_HUMAN	65	A	T	Polymorphism	-
P30493	1B55_HUMAN	97	T	A	Polymorphism	-
P30493	1B55_HUMAN	87	N	K	Polymorphism	-
P30493	1B55_HUMAN	187	T	L	Polymorphism	-
P30493	1B55_HUMAN	121	T	S	Polymorphism	-
P30493	1B55_HUMAN	187	T	E	Polymorphism	-
P30493	1B55_HUMAN	98	D	Y	Polymorphism	-
P30493	1B55_HUMAN	180	L	R	Polymorphism	-
P30493	1B55_HUMAN	121	T	R	Polymorphism	-
P30493	1B55_HUMAN	82	E	A	Polymorphism	-
P30495	1B56_HUMAN	87	N	D	Polymorphism	-
P30495	1B56_HUMAN	121	T	R	Polymorphism	-
P30495	1B56_HUMAN	87	N	K	Polymorphism	-
P30495	1B56_HUMAN	176	V	E	Polymorphism	-
P30495	1B56_HUMAN	65	A	T	Polymorphism	-
P30495	1B56_HUMAN	69	E	T	Polymorphism	-
P30495	1B56_HUMAN	140	L	S	Polymorphism	-
P30495	1B56_HUMAN	97	T	A	Polymorphism	-
P30495	1B56_HUMAN	98	D	Y	Polymorphism	-
P30495	1B56_HUMAN	119	W	L	Polymorphism	-
P30495	1B56_HUMAN	140	L	Y	Polymorphism	-
P30495	1B56_HUMAN	101	S	N	Polymorphism	-
P30495	1B56_HUMAN	195	Y	H	Polymorphism	-
P30495	1B56_HUMAN	180	L	W	Polymorphism	-
P30495	1B56_HUMAN	127	L	V	Polymorphism	-
P30495	1B56_HUMAN	138	N	D	Polymorphism	-
P30498	1B78_HUMAN	98	D	Y	Polymorphism	-
P30498	1B78_HUMAN	91	F	C	Polymorphism	-
P30498	1B78_HUMAN	97	T	A	Polymorphism	-
P30499	1C01_HUMAN	140	Y	S	Polymorphism	-
P30499	1C01_HUMAN	179	E	Q	Polymorphism	-
P30499	1C01_HUMAN	90	K	N	Polymorphism	-
P30499	1C01_HUMAN	92	N	K	Polymorphism	-
P30499	1C01_HUMAN	48	S	T	Polymorphism	-
P30499	1C01_HUMAN	243	W	R	Polymorphism	-
P30499	1C01_HUMAN	138	D	N	Polymorphism	-
P30499	1C01_HUMAN	43	E	K	Polymorphism	-
P30499	1C01_HUMAN	5	E	A	Polymorphism	-
P30499	1C01_HUMAN	202	S	T	Polymorphism	-
P30499	1C01_HUMAN	48	S	A	Polymorphism	-
P30499	1C01_HUMAN	73	A	E	Polymorphism	-
P30499	1C01_HUMAN	272	M	V	Polymorphism	-
P30499	1C01_HUMAN	201	E	K	Polymorphism	-
P30499	1C01_HUMAN	76	V	M	Polymorphism	-
P30499	1C01_HUMAN	180	R	W	Polymorphism	-
P30499	1C01_HUMAN	328	V	M	Polymorphism	-
P30499	1C01_HUMAN	140	Y	F	Polymorphism	-
P30499	1C01_HUMAN	364	S	C	Polymorphism	-
P30499	1C01_HUMAN	48	S	P	Polymorphism	-
P30501	1C02_HUMAN	5	E	A	Polymorphism	-
P30501	1C02_HUMAN	92	N	K	Polymorphism	-
P30501	1C02_HUMAN	137	Y	H	Polymorphism	-
P30501	1C02_HUMAN	10	I	L	Polymorphism	-
P30501	1C02_HUMAN	179	E	Q	Polymorphism	-
P30501	1C02_HUMAN	364	S	C	Polymorphism	-
P30501	1C02_HUMAN	202	K	T	Polymorphism	-
P30501	1C02_HUMAN	272	V	M	Polymorphism	-
P30504	1C04_HUMAN	76	V	M	Polymorphism	-
P30504	1C04_HUMAN	73	E	A	Polymorphism	-
P30504	1C04_HUMAN	38	W	R	Polymorphism	-
P30504	1C04_HUMAN	90	K	N	Polymorphism	-
P30504	1C04_HUMAN	45	R	H	Polymorphism	-
P30504	1C04_HUMAN	35	S	A	Polymorphism	-
P30504	1C04_HUMAN	272	V	M	Polymorphism	-
P30504	1C04_HUMAN	327	M	V	Polymorphism	-
P30504	1C04_HUMAN	40	G	S	Polymorphism	-
P30504	1C04_HUMAN	97	A	T	Polymorphism	-
P30504	1C04_HUMAN	52	V	L	Polymorphism	-
P30504	1C04_HUMAN	201	E	K	Polymorphism	-
P30504	1C04_HUMAN	180	R	L	Polymorphism	-
P30504	1C04_HUMAN	33	S	Y	Polymorphism	-
P30505	1C08_HUMAN	73	A	E	Polymorphism	-
P30505	1C08_HUMAN	272	V	M	Polymorphism	-
P30505	1C08_HUMAN	176	T	E	Polymorphism	-
P30505	1C08_HUMAN	162	T	K	Polymorphism	-
P30505	1C08_HUMAN	180	L	R	Polymorphism	-
P30505	1C08_HUMAN	76	V	M	Polymorphism	-
P30505	1C08_HUMAN	90	K	N	Polymorphism	-
P30505	1C08_HUMAN	199	G	R	Polymorphism	-
P30508	1C12_HUMAN	97	A	T	Polymorphism	-
P30508	1C12_HUMAN	137	Y	H	Polymorphism	-
P30508	1C12_HUMAN	76	V	M	Polymorphism	-
P30508	1C12_HUMAN	180	W	R	Polymorphism	-
P30508	1C12_HUMAN	363	A	T	Polymorphism	-
P30508	1C12_HUMAN	272	V	M	Polymorphism	-
P30508	1C12_HUMAN	201	E	K	Polymorphism	-
P30508	1C12_HUMAN	73	A	E	Polymorphism	-
P30508	1C12_HUMAN	90	K	N	Polymorphism	-
P30508	1C12_HUMAN	101	S	G	Polymorphism	-
P30508	1C12_HUMAN	104	N	K	Polymorphism	-
P30508	1C12_HUMAN	101	S	N	Polymorphism	-
P30508	1C12_HUMAN	121	R	W	Polymorphism	-
P30508	1C12_HUMAN	144	G	V	Polymorphism	-
P30508	1C12_HUMAN	208	H	P	Polymorphism	-
P30510	1C14_HUMAN	73	A	E	Polymorphism	-
P30510	1C14_HUMAN	101	S	N	Polymorphism	-
P30510	1C14_HUMAN	97	T	A	Polymorphism	-
P30510	1C14_HUMAN	90	K	N	Polymorphism	-
P30510	1C14_HUMAN	201	E	K	Polymorphism	-
P30510	1C14_HUMAN	76	V	M	Polymorphism	-
P30510	1C14_HUMAN	137	Y	H	Polymorphism	-
P30510	1C14_HUMAN	272	V	M	Polymorphism	-
P30510	1C14_HUMAN	45	R	H	Polymorphism	-
P30511	HLAF_HUMAN	13	A	V	Polymorphism	-
P30511	HLAF_HUMAN	272	P	S	Polymorphism	-
P30511	HLAF_HUMAN	71	P	Q	Polymorphism	-
P30512	1A29_HUMAN	151	N	K	Polymorphism	-
P30512	1A29_HUMAN	166	I	T	Polymorphism	-
P30512	1A29_HUMAN	129	S	P	Polymorphism	-
P30512	1A29_HUMAN	133	F	L	Polymorphism	-
P30512	1A29_HUMAN	90	N	H	Polymorphism	-
P30512	1A29_HUMAN	126	H	D	Polymorphism	-
P30512	1A29_HUMAN	131	G	W	Polymorphism	-
P30518	V2R_HUMAN	92	Q	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	137	R	L	Disease	Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]
P30518	V2R_HUMAN	84	A	D	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	123	M	K	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	59	L	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	88	V	M	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	112	C	Y	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	80	H	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	143	R	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	204	T	N	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	61	A	V	Polymorphism	-
P30518	V2R_HUMAN	130	I	F	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	62	L	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	64	R	W	Polymorphism	-
P30518	V2R_HUMAN	272	M	K	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	105	F	V	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	201	G	D	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	137	R	H	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	317	N	K	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	214	F	S	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	113	R	W	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	107	G	E	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	247	R	H	Unclassified	A breast cancer sample
P30518	V2R_HUMAN	83	L	Q	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	94	L	Q	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	206	V	D	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	323	W	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	252	R	W	Polymorphism	-
P30518	V2R_HUMAN	81	L	F	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	55	N	H	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	126	S	F	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	292	L	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	217	P	T	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	112	C	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	83	L	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	85	D	N	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	127	S	F	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	99	W	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	321	N	K	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	321	N	D	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	43	L	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	219	L	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	285	A	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	95	P	L	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	137	R	C	Disease	Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]
P30518	V2R_HUMAN	352	G	D	Polymorphism	-
P30518	V2R_HUMAN	122	G	D	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	44	L	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	309	L	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	46	I	K	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	147	A	V	Polymorphism	-
P30518	V2R_HUMAN	191	D	G	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	132	A	D	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	128	Y	S	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	322	P	S	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	319	C	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	323	W	S	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	55	N	D	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	277	V	A	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	104	R	C	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	322	P	H	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	286	P	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	122	G	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	286	P	S	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	106	R	C	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	282	L	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	42	A	V	Polymorphism	-
P30518	V2R_HUMAN	280	Y	C	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	215	V	M	Polymorphism	-
P30518	V2R_HUMAN	321	N	Y	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	167	S	L	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	53	L	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	209	I	F	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	318	S	T	Polymorphism	-
P30518	V2R_HUMAN	7	T	S	Polymorphism	-
P30518	V2R_HUMAN	202	R	C	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	289	L	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	294	A	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	315	S	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	12	G	E	Polymorphism	-
P30518	V2R_HUMAN	286	P	L	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	181	R	C	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	164	W	S	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	135	L	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	174	Q	L	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	287	F	L	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	185	G	C	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	219	L	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	167	S	T	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	163	A	P	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	309	L	R	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	205	Y	C	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	139	R	S	Polymorphism	-
P30518	V2R_HUMAN	207	T	N	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	173	P	S	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30518	V2R_HUMAN	203	R	C	Disease	Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
P30519	HMOX2_HUMAN	137	R	Q	Polymorphism	-
P30519	HMOX2_HUMAN	146	P	L	Polymorphism	-
P30520	PURA2_HUMAN	179	L	F	Polymorphism	-
P30530	UFO_HUMAN	295	R	W	Unclassified	A lung neuroendocrine carcinoma sample
P30530	UFO_HUMAN	499	R	C	Unclassified	A gastric adenocarcinoma sample
P30530	UFO_HUMAN	266	D	N	Polymorphism	-
P30530	UFO_HUMAN	515	S	G	Polymorphism	-
P30530	UFO_HUMAN	112	T	M	Polymorphism	-
P30531	SC6A1_HUMAN	521	P	Q	Polymorphism	-
P30531	SC6A1_HUMAN	288	A	V	Disease	Myoclonic-atonic epilepsy (MAE) [MIM:616421]
P30531	SC6A1_HUMAN	44	R	Q	Disease	Myoclonic-atonic epilepsy (MAE) [MIM:616421]
P30531	SC6A1_HUMAN	334	A	P	Disease	Myoclonic-atonic epilepsy (MAE) [MIM:616421]
P30531	SC6A1_HUMAN	297	G	R	Disease	Myoclonic-atonic epilepsy (MAE) [MIM:616421]
P30532	ACHA5_HUMAN	398	D	N	Polymorphism	-
P30532	ACHA5_HUMAN	134	V	I	Polymorphism	-
P30533	AMRP_HUMAN	114	N	S	Polymorphism	-
P30533	AMRP_HUMAN	311	V	M	Polymorphism	-
P30536	TSPO_HUMAN	162	R	H	Polymorphism	-
P30536	TSPO_HUMAN	147	T	A	Polymorphism	-
P30536	TSPO_HUMAN	169	E	Q	Polymorphism	-
P30542	AA1R_HUMAN	105	R	H	Polymorphism	-
P30542	AA1R_HUMAN	170	E	K	Unclassified	A colorectal cancer sample
P30542	AA1R_HUMAN	261	P	Q	Polymorphism	-
P30542	AA1R_HUMAN	50	S	P	Polymorphism	-
P30542	AA1R_HUMAN	43	A	S	Polymorphism	-
P30542	AA1R_HUMAN	279	G	S	Unclassified	-
P30556	AGTR1_HUMAN	336	T	P	Polymorphism	-
P30556	AGTR1_HUMAN	282	T	M	Disease	Renal tubular dysgenesis (RTD) [MIM:267430]
P30556	AGTR1_HUMAN	289	C	W	Polymorphism	-
P30556	AGTR1_HUMAN	341	P	H	Polymorphism	-
P30556	AGTR1_HUMAN	244	A	S	Polymorphism	-
P30556	AGTR1_HUMAN	222	L	V	Polymorphism	-
P30556	AGTR1_HUMAN	163	A	T	Polymorphism	-
P30559	OXYR_HUMAN	16	A	S	Polymorphism	-
P30559	OXYR_HUMAN	218	A	T	Polymorphism	-
P30566	PUR8_HUMAN	246	K	E	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	190	R	Q	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	31	S	N	Polymorphism	-
P30566	PUR8_HUMAN	422	D	Y	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	114	Y	H	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	100	P	A	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	396	R	H	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	396	R	C	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	311	L	V	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	26	M	L	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	438	S	P	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	374	R	W	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	318	P	L	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	194	R	C	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	3	A	V	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	303	R	C	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	147	K	M	Polymorphism	-
P30566	PUR8_HUMAN	2	A	V	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	450	T	S	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	426	R	H	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	452	R	P	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	447	S	P	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	364	V	M	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	423	L	V	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	430	D	N	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	141	R	W	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	268	D	N	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	72	I	V	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30566	PUR8_HUMAN	395	S	R	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
P30613	KPYR_HUMAN	336	A	S	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	385	R	W	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	80	S	P	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	468	A	G	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	111	G	R	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	531	R	C	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	337	R	P	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	332	G	S	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	387	E	G	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	154	A	T	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	219	I	T	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	120	S	F	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	357	I	T	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	153	I	T	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	86	R	P	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	337	R	Q	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	394	A	D	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	376	S	I	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	557	G	A	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	335	V	M	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	73	L	P	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	479	R	H	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	90	I	N	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	506	V	I	Polymorphism	-
P30613	KPYR_HUMAN	532	R	W	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	390	D	N	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	552	V	M	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	107	M	T	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	163	R	C	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	95	G	R	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	342	I	F	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	341	G	A	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	272	L	V	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	569	R	Q	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	374	L	P	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	155	L	P	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	37	G	E	Disease	Pyruvate kinase hyperactivity (PKHYP) [MIM:102900]
P30613	KPYR_HUMAN	159	G	V	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	331	D	N	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	222	G	A	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	295	A	V	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	115	A	P	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	281	D	N	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	488	R	Q	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	331	D	E	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	559	R	G	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	566	N	K	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	468	A	V	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	172	E	Q	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	361	N	D	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	532	R	Q	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	352	A	D	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	163	R	L	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	310	I	N	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	130	S	Y	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	511	G	R	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	287	F	V	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	458	G	D	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	275	G	R	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	165	G	V	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	408	T	A	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	263	G	R	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	490	R	W	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	393	N	K	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	364	G	D	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	315	E	K	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	293	D	N	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	359	R	H	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	339	D	H	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	459	A	V	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	495	A	V	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	486	R	W	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	314	I	T	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	431	A	T	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	421	Q	K	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	510	R	Q	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	358	G	E	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	408	T	I	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	341	G	D	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	348	K	N	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	485	S	F	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	368	V	F	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	134	V	D	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	40	R	W	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	477	T	A	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	498	R	C	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	495	A	T	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	426	R	W	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	427	E	D	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	426	R	Q	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	288	V	L	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	384	T	M	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	394	A	V	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	359	R	C	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	393	N	S	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	427	E	A	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	263	G	W	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	392	A	T	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	320	V	L	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	504	R	L	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	460	V	M	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30613	KPYR_HUMAN	498	R	H	Disease	Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P30622	CLIP1_HUMAN	162	S	P	Polymorphism	-
P30622	CLIP1_HUMAN	941	S	P	Polymorphism	-
P30622	CLIP1_HUMAN	780	R	W	Polymorphism	-
P30622	CLIP1_HUMAN	1224	A	S	Polymorphism	-
P30622	CLIP1_HUMAN	1213	M	I	Unclassified	A breast cancer sample
P30622	CLIP1_HUMAN	1080	D	E	Polymorphism	-
P30679	GNA15_HUMAN	147	Y	C	Polymorphism	-
P30685	1B35_HUMAN	107	G	D	Polymorphism	-
P30685	1B35_HUMAN	180	L	R	Polymorphism	-
P30685	1B35_HUMAN	98	Y	D	Polymorphism	-
P30685	1B35_HUMAN	40	G	V	Polymorphism	-
P30685	1B35_HUMAN	140	S	F	Polymorphism	-
P30685	1B35_HUMAN	138	D	N	Polymorphism	-
P30685	1B35_HUMAN	48	A	S	Polymorphism	-
P30685	1B35_HUMAN	127	L	V	Polymorphism	-
P30685	1B35_HUMAN	91	F	S	Polymorphism	-
P30685	1B35_HUMAN	121	R	S	Polymorphism	-
P30685	1B35_HUMAN	140	S	Y	Polymorphism	-
P30685	1B35_HUMAN	69	T	E	Polymorphism	-
P30685	1B35_HUMAN	87	N	E	Polymorphism	-
P30685	1B35_HUMAN	133	L	F	Polymorphism	-
P30711	GSTT1_HUMAN	21	A	T	Polymorphism	-
P30711	GSTT1_HUMAN	169	V	I	Polymorphism	-
P30711	GSTT1_HUMAN	141	D	N	Polymorphism	-
P30711	GSTT1_HUMAN	173	E	K	Polymorphism	-
P30740	ILEU_HUMAN	82	A	V	Polymorphism	-
P30793	GCH1_HUMAN	83	G	A	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	213	M	V	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	224	K	R	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	221	M	T	Disease	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910]
P30793	GCH1_HUMAN	201	G	E	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	199	P	L	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	75	Y	C	Unclassified	-
P30793	GCH1_HUMAN	115	D	N	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	108	G	D	Disease	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910]
P30793	GCH1_HUMAN	15	G	D	Unclassified	-
P30793	GCH1_HUMAN	90	G	V	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	71	L	Q	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	141	C	R	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	191	V	I	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	163	L	R	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	134	D	V	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	135	I	T	Polymorphism	-
P30793	GCH1_HUMAN	249	R	S	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	98	A	V	Polymorphism	-
P30793	GCH1_HUMAN	144	H	P	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	88	R	P	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	135	I	K	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	153	H	P	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	184	R	H	Disease	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910]
P30793	GCH1_HUMAN	102	M	R	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	88	R	W	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	102	M	K	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	23	P	L	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	234	F	S	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	176	S	T	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	141	C	W	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	203	G	R	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	178	R	S	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	186	T	K	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	74	A	V	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	79	L	P	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	241	R	W	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	211	M	I	Disease	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910]
P30793	GCH1_HUMAN	211	M	V	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	106	T	I	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30793	GCH1_HUMAN	224	K	R	Disease	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910]
P30793	GCH1_HUMAN	180	Q	R	Disease	Dystonia, dopa-responsive (DRD) [MIM:128230]
P30837	AL1B1_HUMAN	86	A	V	Polymorphism	-
P30837	AL1B1_HUMAN	253	V	M	Polymorphism	-
P30837	AL1B1_HUMAN	107	L	R	Polymorphism	-
P30837	AL1B1_HUMAN	202	T	I	Polymorphism	-
P30838	AL3A1_HUMAN	329	P	A	Polymorphism	-
P30838	AL3A1_HUMAN	134	S	A	Polymorphism	-
P30838	AL3A1_HUMAN	309	G	E	Polymorphism	-
P30926	ACHB4_HUMAN	140	S	G	Polymorphism	-
P30926	ACHB4_HUMAN	91	T	I	Polymorphism	-
P30926	ACHB4_HUMAN	136	R	W	Polymorphism	-
P30926	ACHB4_HUMAN	467	M	V	Polymorphism	-
P30953	OR1E1_HUMAN	143	A	T	Polymorphism	-
P30953	OR1E1_HUMAN	262	S	P	Polymorphism	-
P30953	OR1E1_HUMAN	129	P	L	Polymorphism	-
P30954	O10J1_HUMAN	112	M	I	Polymorphism	-
P30954	O10J1_HUMAN	62	M	I	Polymorphism	-
P30954	O10J1_HUMAN	103	I	M	Polymorphism	-
P30968	GNRHR_HUMAN	37	I	S	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	171	A	T	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	90	E	K	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	90	E	D	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	139	R	H	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	217	S	R	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	168	S	R	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	18	N	S	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	262	R	Q	Unclassified	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	146	P	S	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	129	A	D	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	106	Q	R	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	266	L	R	Unclassified	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	83	L	V	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	10	N	K	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30968	GNRHR_HUMAN	284	Y	C	Disease	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
P30988	CALCR_HUMAN	447	P	L	Polymorphism	-
P30989	NTR1_HUMAN	304	V	I	Polymorphism	-
P30989	NTR1_HUMAN	275	Q	H	Polymorphism	-
P30989	NTR1_HUMAN	72	A	V	Polymorphism	-
P31040	SDHA_HUMAN	33	F	V	Polymorphism	-
P31040	SDHA_HUMAN	524	A	V	Disease	Leigh syndrome (LS) [MIM:256000]
P31040	SDHA_HUMAN	555	G	E	Disease	Cardiomyopathy, dilated 1GG (CMD1GG) [MIM:613642]
P31040	SDHA_HUMAN	240	E	Q	Polymorphism	-
P31040	SDHA_HUMAN	38	D	V	Polymorphism	-
P31040	SDHA_HUMAN	589	R	W	Disease	Paragangliomas 5 (PGL5) [MIM:614165]
P31040	SDHA_HUMAN	333	V	I	Polymorphism	-
P31040	SDHA_HUMAN	555	G	E	Disease	Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]
P31040	SDHA_HUMAN	629	Y	F	Polymorphism	-
P31040	SDHA_HUMAN	657	V	I	Polymorphism	-
P31040	SDHA_HUMAN	554	R	W	Disease	Leigh syndrome (LS) [MIM:256000]
P31040	SDHA_HUMAN	189	C	G	Disease	Leigh syndrome (LS) [MIM:256000]
P31146	COR1A_HUMAN	415	R	K	Polymorphism	-
P31146	COR1A_HUMAN	134	V	M	Disease	Immunodeficiency 8 (IMD8) [MIM:615401]
P31150	GDIA_HUMAN	92	L	P	Disease	Mental retardation, X-linked 41 (MRX41) [MIM:300849]
P31150	GDIA_HUMAN	423	R	P	Disease	Mental retardation, X-linked 41 (MRX41) [MIM:300849]
P31151	S10A7_HUMAN	28	E	D	Polymorphism	-
P31152	MK04_HUMAN	38	V	M	Polymorphism	-
P31152	MK04_HUMAN	371	R	P	Polymorphism	-
P31213	S5A2_HUMAN	194	F	L	Polymorphism	-
P31213	S5A2_HUMAN	145	R	W	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	234	F	L	Polymorphism	-
P31213	S5A2_HUMAN	55	L	Q	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	196	G	S	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	224	L	M	Polymorphism	-
P31213	S5A2_HUMAN	231	H	R	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	200	E	K	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	49	A	T	Polymorphism	-
P31213	S5A2_HUMAN	187	T	M	Polymorphism	-
P31213	S5A2_HUMAN	115	G	D	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	89	V	L	Polymorphism	-
P31213	S5A2_HUMAN	227	R	Q	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	246	R	Q	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	228	A	T	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	212	P	R	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	123	G	R	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	48	P	R	Polymorphism	-
P31213	S5A2_HUMAN	183	G	S	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	197	E	D	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	126	Q	R	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	246	R	W	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	158	G	R	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	207	A	D	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	245	S	Y	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	203	G	S	Polymorphism	-
P31213	S5A2_HUMAN	51	A	T	Polymorphism	-
P31213	S5A2_HUMAN	85	G	D	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	235	Y	F	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	30	P	L	Unclassified	-
P31213	S5A2_HUMAN	224	L	H	Polymorphism	-
P31213	S5A2_HUMAN	181	P	L	Disease	Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
P31213	S5A2_HUMAN	113	L	V	Polymorphism	-
P31213	S5A2_HUMAN	5	C	R	Polymorphism	-
P31249	HXD3_HUMAN	129	S	C	Polymorphism	-
P31268	HXA7_HUMAN	18	A	T	Polymorphism	-
P31271	HXA13_HUMAN	368	I	F	Disease	Hand-foot-genital syndrome (HFG) [MIM:140000]
P31271	HXA13_HUMAN	375	V	F	Disease	Hand-foot-genital syndrome (HFG) [MIM:140000]
P31271	HXA13_HUMAN	371	Q	L	Disease	Guttmacher syndrome (GUTTS) [MIM:176305]
P31271	HXA13_HUMAN	372	N	H	Disease	Hand-foot-genital syndrome (HFG) [MIM:140000]
P31274	HXC9_HUMAN	87	G	S	Unclassified	A colorectal cancer sample
P31276	HXC13_HUMAN	271	Q	R	Unclassified	Ectodermal dysplasia 9, hair/nail type (ECTD9) [MIM:614931]
P31276	HXC13_HUMAN	50	S	I	Polymorphism	-
P31277	HXD11_HUMAN	245	G	D	Polymorphism	-
P31323	KAP3_HUMAN	335	E	D	Polymorphism	-
P31327	CPSM_HUMAN	1254	I	F	Unclassified	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	651	E	K	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1195	H	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	998	S	F	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	718	R	K	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	964	G	D	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1381	L	S	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	958	L	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1194	E	D	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	962	Y	C	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	982	G	S	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	780	R	H	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1203	S	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1054	I	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	959	Y	C	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	913	S	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	674	N	K	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1141	V	G	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	914	D	G	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	816	C	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	767	D	V	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	337	H	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	587	R	H	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	674	N	I	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1167	T	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	805	F	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	593	G	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	850	R	C	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	726	A	T	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	654	D	V	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	344	T	A	Polymorphism	-
P31327	CPSM_HUMAN	531	V	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	587	R	C	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	544	T	M	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1333	G	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	911	G	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	530	G	V	Unclassified	-
P31327	CPSM_HUMAN	355	N	D	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	661	G	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	698	N	S	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	632	I	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	341	L	S	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	843	L	S	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	810	Q	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	875	K	E	Polymorphism	-
P31327	CPSM_HUMAN	1327	C	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	640	A	S	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	589	A	T	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	71	V	G	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1205	D	N	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	803	R	S	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	871	T	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	937	I	N	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1103	Q	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	457	V	G	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	949	A	T	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	805	F	S	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	932	R	T	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	531	V	G	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	911	G	V	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	431	G	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	358	D	H	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1228	R	Q	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	471	T	N	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	174	R	W	Unclassified	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	638	R	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1266	F	S	Polymorphism	-
P31327	CPSM_HUMAN	622	V	M	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1089	R	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	792	M	I	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	628	G	D	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	304	A	V	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	438	A	T	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	721	R	Q	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1155	A	V	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	986	I	T	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1022	T	I	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1411	P	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1241	N	K	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1283	M	L	Polymorphism	-
P31327	CPSM_HUMAN	587	R	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	344	T	S	Polymorphism	-
P31327	CPSM_HUMAN	597	S	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	258	G	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1391	T	M	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	987	G	C	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1215	I	V	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1331	S	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	389	Y	C	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	774	P	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	814	R	W	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	123	S	F	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	982	G	D	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	850	R	H	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	212	Y	N	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	79	G	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	498	A	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	450	K	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1262	R	Q	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1255	E	D	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1398	L	V	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	43	A	V	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	984	Y	H	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1453	R	Q	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	382	P	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1453	R	W	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	648	C	Y	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1376	G	S	Polymorphism	-
P31327	CPSM_HUMAN	280	K	N	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	390	L	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1462	P	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	165	D	G	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1262	R	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1439	P	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	992	F	S	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1378	A	T	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1089	R	C	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	978	V	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	803	R	G	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1491	Y	H	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	914	D	H	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	724	A	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	87	P	S	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	89	Y	D	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	317	G	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	58	G	D	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1274	D	H	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1371	R	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1016	N	S	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	301	G	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1406	T	N	Polymorphism	-
P31327	CPSM_HUMAN	678	Q	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	438	A	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	918	S	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	432	G	V	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	233	R	C	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	243	H	P	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1017	P	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1443	T	A	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1045	H	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	982	G	V	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	803	R	C	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	123	S	Y	Unclassified	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	401	G	R	Unclassified	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	263	G	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1203	S	L	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	65	S	F	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1155	A	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1065	A	E	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1034	E	G	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	716	N	K	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	224	D	V	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31327	CPSM_HUMAN	1059	Q	R	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
P31358	CD52_HUMAN	41	I	M	Polymorphism	-
P31358	CD52_HUMAN	40	N	S	Polymorphism	-
P31371	FGF9_HUMAN	94	I	V	Polymorphism	-
P31371	FGF9_HUMAN	99	S	N	Disease	Multiple synostoses syndrome 3 (SYNS3) [MIM:612961]
P31391	SSR4_HUMAN	284	F	V	Polymorphism	-
P31391	SSR4_HUMAN	83	N	T	Polymorphism	-
P31391	SSR4_HUMAN	236	G	D	Polymorphism	-
P31391	SSR4_HUMAN	321	F	S	Polymorphism	-
P31415	CASQ1_HUMAN	103	G	D	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
P31415	CASQ1_HUMAN	44	D	N	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
P31415	CASQ1_HUMAN	244	D	G	Disease	Myopathy, vacuolar, with CASQ1 aggregates (VMCQA) [MIM:616231]
P31415	CASQ1_HUMAN	385	I	T	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
P31415	CASQ1_HUMAN	140	Y	F	Polymorphism	-
P31431	SDC4_HUMAN	12	F	L	Polymorphism	-
P31483	TIA1_HUMAN	384	E	K	Disease	Welander distal myopathy (WDM) [MIM:604454]
P31512	FMO4_HUMAN	339	E	Q	Polymorphism	-
P31512	FMO4_HUMAN	37	I	T	Polymorphism	-
P31512	FMO4_HUMAN	372	G	S	Polymorphism	-
P31512	FMO4_HUMAN	308	T	S	Polymorphism	-
P31512	FMO4_HUMAN	544	L	R	Polymorphism	-
P31512	FMO4_HUMAN	536	F	L	Polymorphism	-
P31512	FMO4_HUMAN	323	V	A	Polymorphism	-
P31513	FMO3_HUMAN	277	V	A	Polymorphism	-
P31513	FMO3_HUMAN	61	N	S	Disease	Trimethylaminuria (TMAU) [MIM:602079]
P31513	FMO3_HUMAN	61	N	K	Unclassified	-
P31513	FMO3_HUMAN	32	E	K	Disease	Trimethylaminuria (TMAU) [MIM:602079]
P31513	FMO3_HUMAN	66	M	I	Disease	Trimethylaminuria (TMAU) [MIM:602079]
P31513	FMO3_HUMAN	492	R	W	Disease	Trimethylaminuria (TMAU) [MIM:602079]
P31513	FMO3_HUMAN	52	A	T	Disease	Trimethylaminuria (TMAU) [MIM:602079]
P31513	FMO3_HUMAN	360	L	P	Polymorphism	-
P31513	FMO3_HUMAN	205	R	C	Polymorphism	-
P31513	FMO3_HUMAN	387	R	L	Disease	Trimethylaminuria (TMAU) [MIM:602079]
P31513	FMO3_HUMAN	257	V	M	Polymorphism	-
P31513	FMO3_HUMAN	362	E	Q	Polymorphism	-
P31513	FMO3_HUMAN	434	M	I	Disease	Trimethylaminuria (TMAU) [MIM:602079]
P31513	FMO3_HUMAN	153	P	L	Disease	Trimethylaminuria (TMAU) [MIM:602079]
P31513	FMO3_HUMAN	132	D	H	Polymorphism	-
P31513	FMO3_HUMAN	158	E	K	Polymorphism	-
P31513	FMO3_HUMAN	503	G	R	Polymorphism	-
P31513	FMO3_HUMAN	198	D	E	Polymorphism	-
P31513	FMO3_HUMAN	416	K	N	Polymorphism	-
P31513	FMO3_HUMAN	308	E	G	Polymorphism	-
P31513	FMO3_HUMAN	24	E	D	Unclassified	-
P31629	ZEP2_HUMAN	46	R	Q	Polymorphism	-
P31629	ZEP2_HUMAN	1538	L	P	Polymorphism	-
P31629	ZEP2_HUMAN	1293	L	I	Polymorphism	-
P31629	ZEP2_HUMAN	1041	A	V	Polymorphism	-
P31639	SC5A2_HUMAN	654	N	S	Disease	Renal glucosuria (GLYS) [MIM:233100]
P31641	SC6A6_HUMAN	18	L	V	Polymorphism	-
P31641	SC6A6_HUMAN	17	I	M	Polymorphism	-
P31645	SC6A4_HUMAN	425	I	V	Polymorphism	-
P31645	SC6A4_HUMAN	465	F	L	Polymorphism	-
P31645	SC6A4_HUMAN	56	G	A	Polymorphism	-
P31645	SC6A4_HUMAN	605	K	N	Polymorphism	-
P31645	SC6A4_HUMAN	425	I	L	Polymorphism	-
P31645	SC6A4_HUMAN	201	K	N	Polymorphism	-
P31645	SC6A4_HUMAN	550	L	V	Polymorphism	-
P31749	AKT1_HUMAN	17	E	K	Disease	Proteus syndrome (PROTEUSS) [MIM:176920]
P31749	AKT1_HUMAN	25	R	C	Disease	Cowden syndrome 6 (CWS6) [MIM:615109]
P31749	AKT1_HUMAN	167	V	A	Polymorphism	-
P31749	AKT1_HUMAN	435	T	P	Disease	Cowden syndrome 6 (CWS6) [MIM:615109]
P31749	AKT1_HUMAN	17	E	K	Disease	Breast cancer (BC) [MIM:114480]
P31751	AKT2_HUMAN	188	I	V	Polymorphism	-
P31751	AKT2_HUMAN	208	R	K	Polymorphism	-
P31751	AKT2_HUMAN	274	R	H	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P31751	AKT2_HUMAN	17	E	K	Disease	Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) [MIM:240900]
P31785	IL2RG_HUMAN	226	R	H	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	222	R	C	Disease	X-linked combined immunodeficiency (XCID) [MIM:312863]
P31785	IL2RG_HUMAN	44	T	S	Polymorphism	-
P31785	IL2RG_HUMAN	231	C	Y	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	182	C	R	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	172	L	Q	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	162	L	H	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	226	R	C	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	156	A	V	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	240	W	C	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	241	S	I	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	172	L	P	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	285	R	Q	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	105	Y	C	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	153	I	N	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	224	R	W	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	232	G	R	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	114	G	D	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	270	M	R	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	68	E	G	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	62	C	G	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	84	N	K	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	89	Y	C	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	183	L	S	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	115	C	F	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	39	D	N	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	125	Y	N	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	115	C	R	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	227	F	C	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	230	L	P	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	123	H	P	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	68	E	K	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31785	IL2RG_HUMAN	109	E	K	Polymorphism	-
P31785	IL2RG_HUMAN	293	L	Q	Disease	X-linked combined immunodeficiency (XCID) [MIM:312863]
P31785	IL2RG_HUMAN	144	Q	P	Disease	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
P31930	QCR1_HUMAN	215	D	H	Polymorphism	-
P31930	QCR1_HUMAN	301	N	S	Polymorphism	-
P31939	PUR9_HUMAN	426	K	R	Disease	AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:608688]
P31939	PUR9_HUMAN	116	T	S	Polymorphism	-
P31941	ABC3A_HUMAN	19	T	A	Polymorphism	-
P31942	HNRH3_HUMAN	163	N	S	Polymorphism	-
P31942	HNRH3_HUMAN	284	G	A	Polymorphism	-
P31946	1433B_HUMAN	99	V	I	Unclassified	-
P31947	1433S_HUMAN	155	M	I	Polymorphism	-
P31994	FCG2B_HUMAN	205	Y	F	Polymorphism	-
P31994	FCG2B_HUMAN	83	Q	P	Polymorphism	-
P31994	FCG2B_HUMAN	232	I	T	Polymorphism	-
P31994	FCG2B_HUMAN	258	Y	D	Polymorphism	-
P31997	CEAM8_HUMAN	45	A	V	Polymorphism	-
P31997	CEAM8_HUMAN	322	L	V	Polymorphism	-
P31997	CEAM8_HUMAN	114	R	K	Polymorphism	-
P31997	CEAM8_HUMAN	17	G	V	Polymorphism	-
P31997	CEAM8_HUMAN	340	I	M	Polymorphism	-
P32004	L1CAM_HUMAN	698	G	R	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	309	E	K	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	768	V	F	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	784	Y	C	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	121	G	S	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	335	W	R	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	421	V	D	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	698	G	R	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	313	L	P	Disease	-
P32004	L1CAM_HUMAN	516	D	Y	Unclassified	-
P32004	L1CAM_HUMAN	691	A	D	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	1239	G	E	Polymorphism	-
P32004	L1CAM_HUMAN	935	L	P	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	941	P	L	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	941	P	L	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	497	C	Y	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	335	W	C	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	542	S	P	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	1194	S	L	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	194	Y	C	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	276	W	R	Disease	-
P32004	L1CAM_HUMAN	184	R	G	Disease	-
P32004	L1CAM_HUMAN	184	R	Q	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	480	G	R	Disease	-
P32004	L1CAM_HUMAN	179	I	S	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	473	R	C	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	768	V	I	Polymorphism	-
P32004	L1CAM_HUMAN	240	P	L	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	482	L	P	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	752	V	M	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	645	I	P	Disease	-
P32004	L1CAM_HUMAN	386	R	C	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	958	L	V	Polymorphism	-
P32004	L1CAM_HUMAN	741	M	T	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	219	I	T	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	240	P	L	Disease	Agenesis of the corpus callosum, X-linked, partial (ACCPX) [MIM:304100]
P32004	L1CAM_HUMAN	752	V	M	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	452	G	R	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	172	M	I	Disease	-
P32004	L1CAM_HUMAN	370	G	R	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	254	A	D	Disease	-
P32004	L1CAM_HUMAN	635	W	C	Disease	-
P32004	L1CAM_HUMAN	184	R	W	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	9	W	S	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	632	R	P	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	370	G	R	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	1224	S	L	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	202	D	Y	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	739	R	W	Polymorphism	-
P32004	L1CAM_HUMAN	674	S	C	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	516	D	N	Unclassified	-
P32004	L1CAM_HUMAN	525	R	H	Unclassified	-
P32004	L1CAM_HUMAN	179	I	S	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	627	T	M	Polymorphism	-
P32004	L1CAM_HUMAN	264	C	Y	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	408	N	I	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	268	G	D	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	210	H	Q	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	714	P	S	Disease	-
P32004	L1CAM_HUMAN	426	A	D	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	1070	Y	C	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	335	W	R	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	38	T	M	Polymorphism	-
P32004	L1CAM_HUMAN	598	D	N	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	1036	W	L	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	751	R	P	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	369	N	K	Disease	-
P32004	L1CAM_HUMAN	655	K	E	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	473	R	C	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	37	I	N	Disease	-
P32004	L1CAM_HUMAN	1080	L	Q	Disease	-
P32004	L1CAM_HUMAN	30	H	N	Polymorphism	-
P32004	L1CAM_HUMAN	415	A	P	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	120	L	V	Polymorphism	-
P32004	L1CAM_HUMAN	754	W	R	Disease	-
P32004	L1CAM_HUMAN	770	D	N	Disease	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
P32004	L1CAM_HUMAN	691	A	T	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32004	L1CAM_HUMAN	1194	S	L	Disease	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
P32019	I5P2_HUMAN	745	M	T	Polymorphism	-
P32019	I5P2_HUMAN	46	G	S	Polymorphism	-
P32119	PRDX2_HUMAN	153	D	E	Polymorphism	-
P32189	GLPK_HUMAN	509	W	R	Disease	Glycerol kinase deficiency (GKD) [MIM:307030]
P32189	GLPK_HUMAN	79	N	K	Polymorphism	-
P32189	GLPK_HUMAN	382	A	T	Polymorphism	-
P32189	GLPK_HUMAN	294	N	D	Disease	Glycerol kinase deficiency (GKD) [MIM:307030]
P32189	GLPK_HUMAN	446	D	V	Disease	Glycerol kinase deficiency (GKD) [MIM:307030]
P32189	GLPK_HUMAN	185	S	N	Polymorphism	-
P32189	GLPK_HUMAN	232	N	H	Polymorphism	-
P32189	GLPK_HUMAN	131	P	T	Polymorphism	-
P32239	GASR_HUMAN	319	R	Q	Polymorphism	-
P32239	GASR_HUMAN	215	R	H	Polymorphism	-
P32239	GASR_HUMAN	37	L	F	Polymorphism	-
P32239	GASR_HUMAN	125	V	I	Polymorphism	-
P32239	GASR_HUMAN	77	V	G	Polymorphism	-
P32241	VIPR1_HUMAN	445	R	L	Polymorphism	-
P32241	VIPR1_HUMAN	341	R	M	Polymorphism	-
P32243	OTX2_HUMAN	134	P	A	Disease	Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]
P32243	OTX2_HUMAN	134	P	R	Unclassified	Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986]
P32243	OTX2_HUMAN	133	P	T	Disease	Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]
P32243	OTX2_HUMAN	79	E	K	Disease	Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP) [MIM:610125]
P32243	OTX2_HUMAN	225	N	S	Disease	Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986]
P32243	OTX2_HUMAN	89	R	G	Disease	Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]
P32243	OTX2_HUMAN	90	R	S	Disease	Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]
P32245	MC4R_HUMAN	175	A	T	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	58	S	C	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	97	N	D	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	30	S	F	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	37	D	V	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	102	I	S	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	11	T	A	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	181	G	D	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	219	A	V	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	112	T	M	Polymorphism	-
P32245	MC4R_HUMAN	251	I	L	Polymorphism	-
P32245	MC4R_HUMAN	50	V	M	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	226	I	T	Polymorphism	-
P32245	MC4R_HUMAN	165	R	Q	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	103	V	I	Polymorphism	-
P32245	MC4R_HUMAN	252	G	S	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	325	L	F	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	316	I	S	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	317	I	T	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	62	N	S	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	253	V	I	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	165	R	W	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	102	I	T	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	170	I	V	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	125	I	K	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	106	L	P	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	127	S	L	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	78	P	L	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	72	N	K	Disease	-
P32245	MC4R_HUMAN	36	S	Y	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	271	C	R	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	274	N	S	Disease	Obesity (OBESITY) [MIM:601665]
P32245	MC4R_HUMAN	271	C	Y	Disease	Obesity (OBESITY) [MIM:601665]
P32247	BRS3_HUMAN	53	T	P	Polymorphism	-
P32247	BRS3_HUMAN	162	L	Q	Polymorphism	-
P32248	CCR7_HUMAN	7	M	V	Polymorphism	-
P32249	GP183_HUMAN	338	A	V	Unclassified	An acute myeloid leukemia sample
P32297	ACHA3_HUMAN	37	R	H	Polymorphism	-
P32298	GRK4_HUMAN	95	D	H	Polymorphism	-
P32298	GRK4_HUMAN	495	A	T	Polymorphism	-
P32298	GRK4_HUMAN	65	R	L	Polymorphism	-
P32298	GRK4_HUMAN	425	L	P	Polymorphism	-
P32298	GRK4_HUMAN	116	A	T	Polymorphism	-
P32298	GRK4_HUMAN	247	V	I	Polymorphism	-
P32298	GRK4_HUMAN	486	V	A	Polymorphism	-
P32298	GRK4_HUMAN	183	T	R	Polymorphism	-
P32298	GRK4_HUMAN	142	A	V	Polymorphism	-
P32298	GRK4_HUMAN	473	V	I	Polymorphism	-
P32298	GRK4_HUMAN	383	H	Q	Polymorphism	-
P32298	GRK4_HUMAN	440	A	V	Polymorphism	-
P32302	CXCR5_HUMAN	344	G	S	Polymorphism	-
P32302	CXCR5_HUMAN	34	E	K	Unclassified	A breast cancer sample
P32320	CDD_HUMAN	27	K	Q	Polymorphism	-
P32322	P5CR1_HUMAN	119	R	H	Disease	Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
P32322	P5CR1_HUMAN	206	G	W	Disease	Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
P32322	P5CR1_HUMAN	266	R	Q	Disease	Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
P32322	P5CR1_HUMAN	297	G	R	Polymorphism	-
P32322	P5CR1_HUMAN	257	A	T	Disease	Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438]
P32322	P5CR1_HUMAN	179	A	T	Disease	Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
P32322	P5CR1_HUMAN	251	R	H	Disease	Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438]
P32322	P5CR1_HUMAN	189	A	V	Polymorphism	-
P32322	P5CR1_HUMAN	206	G	R	Disease	Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
P32322	P5CR1_HUMAN	119	R	G	Disease	Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
P32322	P5CR1_HUMAN	248	G	E	Disease	Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438]
P32418	NAC1_HUMAN	692	E	V	Polymorphism	-
P32455	GBP1_HUMAN	349	T	S	Polymorphism	-
P32455	GBP1_HUMAN	166	E	D	Polymorphism	-
P32455	GBP1_HUMAN	78	I	V	Polymorphism	-
P32455	GBP1_HUMAN	409	A	G	Polymorphism	-
P32456	GBP2_HUMAN	303	S	G	Polymorphism	-
P32456	GBP2_HUMAN	281	S	P	Polymorphism	-
P32456	GBP2_HUMAN	285	P	A	Polymorphism	-
P32519	ELF1_HUMAN	343	T	S	Polymorphism	-
P32519	ELF1_HUMAN	403	T	I	Polymorphism	-
P32519	ELF1_HUMAN	58	N	S	Polymorphism	-
P32745	SSR3_HUMAN	33	A	V	Polymorphism	-
P32745	SSR3_HUMAN	411	S	T	Polymorphism	-
P32745	SSR3_HUMAN	251	S	F	Polymorphism	-
P32745	SSR3_HUMAN	37	P	L	Polymorphism	-
P32745	SSR3_HUMAN	414	R	H	Polymorphism	-
P32745	SSR3_HUMAN	336	R	C	Polymorphism	-
P32754	HPPD_HUMAN	268	A	V	Disease	Tyrosinemia 3 (TYRSN3) [MIM:276710]
P32754	HPPD_HUMAN	33	A	T	Polymorphism	-
P32754	HPPD_HUMAN	340	V	L	Polymorphism	-
P32754	HPPD_HUMAN	113	R	Q	Polymorphism	-
P32754	HPPD_HUMAN	335	I	M	Disease	Tyrosinemia 3 (TYRSN3) [MIM:276710]
P32754	HPPD_HUMAN	160	Y	C	Disease	Tyrosinemia 3 (TYRSN3) [MIM:276710]
P32754	HPPD_HUMAN	267	I	F	Polymorphism	-
P32780	TF2H1_HUMAN	285	S	F	Polymorphism	-
P32780	TF2H1_HUMAN	234	R	W	Polymorphism	-
P32780	TF2H1_HUMAN	517	L	V	Polymorphism	-
P32856	STX2_HUMAN	54	K	R	Polymorphism	-
P32856	STX2_HUMAN	42	S	T	Polymorphism	-
P32881	IFNA8_HUMAN	137	E	K	Polymorphism	-
P32926	DSG3_HUMAN	509	V	M	Polymorphism	-
P32926	DSG3_HUMAN	912	T	A	Polymorphism	-
P32927	IL3RB_HUMAN	652	V	M	Polymorphism	-
P32927	IL3RB_HUMAN	603	P	T	Polymorphism	-
P32927	IL3RB_HUMAN	696	P	S	Polymorphism	-
P32927	IL3RB_HUMAN	647	G	V	Polymorphism	-
P32927	IL3RB_HUMAN	249	E	Q	Polymorphism	-
P32929	CGL_HUMAN	240	Q	E	Disease	Cystathioninuria (CSTNU) [MIM:219500]
P32929	CGL_HUMAN	403	S	I	Polymorphism	-
P32929	CGL_HUMAN	67	T	I	Disease	Cystathioninuria (CSTNU) [MIM:219500]
P32942	ICAM3_HUMAN	63	I	V	Polymorphism	-
P32942	ICAM3_HUMAN	143	D	G	Polymorphism	-
P32942	ICAM3_HUMAN	525	S	T	Polymorphism	-
P32942	ICAM3_HUMAN	115	R	G	Polymorphism	-
P33032	MC5R_HUMAN	209	F	L	Polymorphism	-
P33076	C2TA_HUMAN	45	L	V	Polymorphism	-
P33076	C2TA_HUMAN	781	S	L	Polymorphism	-
P33076	C2TA_HUMAN	658	A	G	Polymorphism	-
P33076	C2TA_HUMAN	782	V	A	Polymorphism	-
P33076	C2TA_HUMAN	469	L	P	Disease	Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]
P33076	C2TA_HUMAN	962	F	S	Disease	Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]
P33076	C2TA_HUMAN	174	R	G	Polymorphism	-
P33076	C2TA_HUMAN	500	G	A	Polymorphism	-
P33076	C2TA_HUMAN	900	Q	R	Polymorphism	-
P33151	CADH5_HUMAN	517	I	T	Polymorphism	-
P33151	CADH5_HUMAN	503	I	T	Polymorphism	-
P33241	LSP1_HUMAN	229	Q	K	Polymorphism	-
P33241	LSP1_HUMAN	108	Q	L	Polymorphism	-
P33241	LSP1_HUMAN	100	A	T	Polymorphism	-
P33260	CP2CI_HUMAN	385	T	M	Polymorphism	-
P33261	CP2CJ_HUMAN	17	L	P	Polymorphism	-
P33261	CP2CJ_HUMAN	92	E	D	Polymorphism	-
P33261	CP2CJ_HUMAN	51	S	G	Polymorphism	-
P33261	CP2CJ_HUMAN	433	R	W	Polymorphism	-
P33261	CP2CJ_HUMAN	74	M	T	Polymorphism	-
P33261	CP2CJ_HUMAN	410	R	C	Polymorphism	-
P33261	CP2CJ_HUMAN	331	V	I	Polymorphism	-
P33261	CP2CJ_HUMAN	227	P	L	Polymorphism	-
P33261	CP2CJ_HUMAN	329	R	H	Polymorphism	-
P33261	CP2CJ_HUMAN	168	F	L	Polymorphism	-
P33261	CP2CJ_HUMAN	161	A	P	Polymorphism	-
P33261	CP2CJ_HUMAN	442	R	C	Polymorphism	-
P33261	CP2CJ_HUMAN	144	R	H	Polymorphism	-
P33261	CP2CJ_HUMAN	120	W	R	Polymorphism	-
P33261	CP2CJ_HUMAN	132	R	Q	Polymorphism	-
P33261	CP2CJ_HUMAN	122	E	A	Polymorphism	-
P33261	CP2CJ_HUMAN	150	R	H	Polymorphism	-
P33261	CP2CJ_HUMAN	19	I	L	Polymorphism	-
P33316	DUT_HUMAN	100	P	S	Polymorphism	-
P33402	GCYA2_HUMAN	685	N	T	Unclassified	A colorectal cancer sample
P33402	GCYA2_HUMAN	681	E	V	Unclassified	A colorectal cancer sample
P33527	MRP1_HUMAN	723	R	Q	Polymorphism	-
P33527	MRP1_HUMAN	433	R	S	Polymorphism	-
P33527	MRP1_HUMAN	117	M	T	Polymorphism	-
P33527	MRP1_HUMAN	43	C	S	Polymorphism	-
P33527	MRP1_HUMAN	671	G	V	Polymorphism	-
P33527	MRP1_HUMAN	633	R	Q	Polymorphism	-
P33527	MRP1_HUMAN	1146	V	I	Polymorphism	-
P33527	MRP1_HUMAN	861	A	T	Polymorphism	-
P33527	MRP1_HUMAN	73	T	I	Polymorphism	-
P33527	MRP1_HUMAN	1512	S	L	Polymorphism	-
P33527	MRP1_HUMAN	1058	R	Q	Polymorphism	-
P33527	MRP1_HUMAN	1047	C	S	Polymorphism	-
P33763	S10A5_HUMAN	54	D	G	Polymorphism	-
P33764	S10A3_HUMAN	3	R	K	Polymorphism	-
P33897	ABCD1_HUMAN	401	R	W	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	626	A	T	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	630	E	G	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	631	C	Y	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	638	D	Y	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	418	R	W	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	296	Y	C	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	636	S	I	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	633	S	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	543	P	L	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	554	R	H	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	606	S	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	322	L	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	654	L	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	646	A	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	566	M	K	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	544	Q	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	591	R	W	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	514	S	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	302	E	K	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	105	T	I	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	214	N	D	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	617	R	G	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	609	E	G	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	518	R	Q	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	617	R	H	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	285	R	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	389	R	H	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	552	S	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	591	R	Q	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	667	H	D	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	104	R	H	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	609	E	K	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	298	G	D	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	515	S	F	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	534	P	L	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	507	G	V	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	336	K	M	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	616	A	V	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	512	G	S	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	161	S	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	218	P	T	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	606	S	L	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	518	R	W	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	271	E	K	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	99	A	D	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	401	R	Q	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	116	G	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	635	V	M	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	560	P	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	540	F	S	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	529	G	S	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	229	L	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	152	R	L	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	484	P	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	617	R	C	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	198	T	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	108	S	W	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	174	Y	D	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	217	K	E	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	95	A	D	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	503	L	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	107	L	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	522	G	W	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	291	E	D	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	277	G	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	291	E	K	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	276	K	E	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	560	P	L	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	274	R	W	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	633	S	I	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	632	T	I	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	90	E	K	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	668	T	I	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	149	S	N	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	660	R	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	181	Y	C	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	342	S	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	277	G	W	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	294	A	T	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	163	R	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	343	G	S	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	108	S	L	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	152	R	S	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	679	W	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	113	R	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	629	D	H	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	316	Q	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	640	E	K	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	163	R	H	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	200	D	N	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	113	R	C	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	104	R	C	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	143	P	S	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	389	R	G	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	220	L	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	189	R	W	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	516	L	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	280	R	C	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	632	T	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	523	L	F	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	200	D	V	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	540	F	C	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	98	S	L	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	194	D	H	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	556	Q	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	105	T	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	213	S	C	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	254	T	M	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	148	N	S	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	141	A	T	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	693	T	M	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	339	W	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	88	C	W	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	190	L	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	211	L	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	677	G	D	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	560	P	S	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	174	Y	C	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	13	N	T	Polymorphism	-
P33897	ABCD1_HUMAN	182	R	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	660	R	W	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	224	V	E	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	608	G	D	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	254	T	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	221	D	G	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	178	Q	E	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	591	R	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	266	G	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	263	P	L	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	152	R	P	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	152	R	C	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	198	T	K	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	626	A	D	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	174	Y	S	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	343	G	D	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	266	G	E	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	660	R	Q	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33897	ABCD1_HUMAN	103	S	R	Disease	Adrenoleukodystrophy (ALD) [MIM:300100]
P33908	MA1A1_HUMAN	651	R	G	Polymorphism	-
P33981	TTK_HUMAN	97	A	V	Polymorphism	-
P33981	TTK_HUMAN	758	D	N	Polymorphism	-
P33991	MCM4_HUMAN	650	L	M	Polymorphism	-
P33991	MCM4_HUMAN	460	E	G	Polymorphism	-
P33992	MCM5_HUMAN	258	V	I	Polymorphism	-
P33992	MCM5_HUMAN	136	S	T	Polymorphism	-
P33992	MCM5_HUMAN	466	T	I	Disease	Meier-Gorlin syndrome 8 (MGORS8) [MIM:617564]
P33992	MCM5_HUMAN	180	T	S	Polymorphism	-
P33993	MCM7_HUMAN	144	N	S	Polymorphism	-
P33993	MCM7_HUMAN	114	R	Q	Polymorphism	-
P33993	MCM7_HUMAN	473	G	S	Polymorphism	-
P34059	GALNS_HUMAN	201	G	E	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	312	T	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	42	G	E	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	309	G	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	343	M	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	94	R	L	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	214	L	P	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	156	F	L	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	166	H	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	287	S	L	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	79	C	Y	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	318	M	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	386	R	C	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	264	S	T	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	259	R	Q	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	23	G	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	121	E	D	Polymorphism	-
P34059	GALNS_HUMAN	344	D	E	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	69	F	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	159	W	C	Polymorphism	-
P34059	GALNS_HUMAN	96	G	C	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	145	H	Y	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	393	A	S	Polymorphism	-
P34059	GALNS_HUMAN	361	R	G	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	200	T	M	Polymorphism	-
P34059	GALNS_HUMAN	391	M	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	185	E	G	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	344	D	N	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	61	R	W	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	91	L	P	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	155	G	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	116	G	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	107	A	T	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	113	I	F	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	16	V	E	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	310	K	N	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	398	H	D	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	290	G	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	230	W	G	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	36	L	P	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	165	C	Y	Polymorphism	-
P34059	GALNS_HUMAN	346	F	L	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	459	A	V	Polymorphism	-
P34059	GALNS_HUMAN	420	P	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	94	R	G	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	235	T	K	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	340	G	D	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	369	L	P	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	492	A	T	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	307	L	P	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	392	A	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	247	G	D	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	284	F	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	53	S	F	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	257	A	T	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	156	F	C	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	401	H	Y	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	97	F	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	111	Q	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	168	G	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	151	P	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	380	R	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	495	N	K	Polymorphism	-
P34059	GALNS_HUMAN	416	I	T	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	295	S	F	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	351	A	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	41	M	L	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	151	P	L	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	141	W	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	409	W	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	494	M	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	484	P	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	357	P	L	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	253	R	W	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	488	V	M	Polymorphism	-
P34059	GALNS_HUMAN	380	R	T	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	345	L	P	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	90	R	W	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	166	H	Q	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	231	A	G	Polymorphism	-
P34059	GALNS_HUMAN	204	N	K	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	487	N	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	301	G	C	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	395	L	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	388	D	N	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	291	A	T	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	178	I	V	Polymorphism	-
P34059	GALNS_HUMAN	203	A	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	135	S	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	500	G	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	352	L	P	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	251	R	Q	Polymorphism	-
P34059	GALNS_HUMAN	156	F	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	260	E	K	Polymorphism	-
P34059	GALNS_HUMAN	291	A	D	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	254	Y	C	Polymorphism	-
P34059	GALNS_HUMAN	179	P	L	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	179	P	H	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	216	F	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	395	L	P	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	15	L	M	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	171	D	A	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	167	F	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	141	W	C	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	155	G	E	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	260	E	D	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	77	P	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	239	V	F	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	47	G	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	325	W	C	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	341	S	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	67	L	M	Polymorphism	-
P34059	GALNS_HUMAN	179	P	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	60	D	N	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	452	F	I	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	125	P	L	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	164	N	T	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	96	G	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	162	S	F	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	116	G	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	415	G	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	450	E	V	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	407	N	H	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	376	R	Q	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	470	S	P	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	40	D	N	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	386	R	H	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	74	S	F	Polymorphism	-
P34059	GALNS_HUMAN	507	C	F	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	150	H	Y	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	139	G	S	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	84	A	E	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	51	E	K	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	81	P	L	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	36	L	R	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	233	D	N	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	510	P	T	Unclassified	A colorectal cancer sample
P34059	GALNS_HUMAN	48	V	G	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	80	S	L	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	380	R	G	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	94	R	C	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34059	GALNS_HUMAN	138	V	A	Disease	Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]
P34096	RNAS4_HUMAN	16	T	S	Polymorphism	-
P34130	NTF4_HUMAN	90	R	C	Polymorphism	-
P34130	NTF4_HUMAN	206	R	Q	Unclassified	Glaucoma 1, open angle, O (GLC1O) [MIM:613100]
P34130	NTF4_HUMAN	90	R	H	Unclassified	Glaucoma 1, open angle, O (GLC1O) [MIM:613100]
P34130	NTF4_HUMAN	114	R	G	Polymorphism	-
P34130	NTF4_HUMAN	206	R	W	Unclassified	Glaucoma 1, open angle, O (GLC1O) [MIM:613100]
P34130	NTF4_HUMAN	209	R	G	Unclassified	Glaucoma 1, open angle, O (GLC1O) [MIM:613100]
P34130	NTF4_HUMAN	140	R	C	Polymorphism	-
P34130	NTF4_HUMAN	7	C	Y	Unclassified	Glaucoma 1, open angle, O (GLC1O) [MIM:613100]
P34130	NTF4_HUMAN	88	A	V	Polymorphism	-
P34130	NTF4_HUMAN	207	T	S	Polymorphism	-
P34130	NTF4_HUMAN	133	R	H	Polymorphism	-
P34130	NTF4_HUMAN	207	T	I	Polymorphism	-
P34130	NTF4_HUMAN	89	S	N	Polymorphism	-
P34130	NTF4_HUMAN	84	E	K	Unclassified	Glaucoma 1, open angle, O (GLC1O) [MIM:613100]
P34741	SDC2_HUMAN	59	A	T	Polymorphism	-
P34741	SDC2_HUMAN	71	S	T	Polymorphism	-
P34810	CD68_HUMAN	350	A	T	Polymorphism	-
P34810	CD68_HUMAN	329	I	T	Polymorphism	-
P34810	CD68_HUMAN	340	A	T	Polymorphism	-
P34810	CD68_HUMAN	254	Q	K	Polymorphism	-
P34820	BMP8B_HUMAN	293	H	R	Polymorphism	-
P34896	GLYC_HUMAN	474	L	F	Polymorphism	-
P34896	GLYC_HUMAN	340	E	Q	Polymorphism	-
P34910	EVI2B_HUMAN	53	G	R	Polymorphism	-
P34913	HYES_HUMAN	225	P	L	Polymorphism	-
P34913	HYES_HUMAN	154	C	Y	Polymorphism	-
P34913	HYES_HUMAN	369	M	V	Polymorphism	-
P34913	HYES_HUMAN	52	R	Q	Polymorphism	-
P34913	HYES_HUMAN	287	R	Q	Polymorphism	-
P34913	HYES_HUMAN	103	R	C	Polymorphism	-
P34913	HYES_HUMAN	21	G	A	Polymorphism	-
P34913	HYES_HUMAN	470	E	G	Polymorphism	-
P34913	HYES_HUMAN	55	K	R	Polymorphism	-
P34925	RYK_HUMAN	243	V	I	Unclassified	An ovarian mucinous carcinoma sample
P34925	RYK_HUMAN	227	R	C	Polymorphism	-
P34925	RYK_HUMAN	99	S	N	Polymorphism	-
P34931	HS71L_HUMAN	558	E	A	Polymorphism	-
P34931	HS71L_HUMAN	8	A	P	Polymorphism	-
P34931	HS71L_HUMAN	479	T	M	Polymorphism	-
P34931	HS71L_HUMAN	602	E	K	Polymorphism	-
P34931	HS71L_HUMAN	294	D	G	Polymorphism	-
P34931	HS71L_HUMAN	268	A	T	Polymorphism	-
P34931	HS71L_HUMAN	493	T	M	Polymorphism	-
P34947	GRK5_HUMAN	129	T	M	Polymorphism	-
P34947	GRK5_HUMAN	304	R	H	Polymorphism	-
P34947	GRK5_HUMAN	41	Q	L	Polymorphism	-
P34947	GRK5_HUMAN	122	G	S	Polymorphism	-
P34947	GRK5_HUMAN	119	A	V	Polymorphism	-
P34947	GRK5_HUMAN	163	D	E	Unclassified	A lung neuroendocrine carcinoma sample
P34947	GRK5_HUMAN	141	L	I	Polymorphism	-
P34949	MPI_HUMAN	219	R	Q	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	255	Y	C	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	102	S	L	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	51	M	T	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	295	R	H	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	138	M	T	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	131	D	N	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	418	R	H	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	398	I	T	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	140	I	T	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	152	R	Q	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	250	G	S	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34949	MPI_HUMAN	129	Y	C	Disease	Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]
P34969	5HT7R_HUMAN	448	P	Q	Polymorphism	-
P34969	5HT7R_HUMAN	279	P	L	Polymorphism	-
P34969	5HT7R_HUMAN	92	T	K	Polymorphism	-
P34972	CNR2_HUMAN	63	Q	R	Polymorphism	-
P34972	CNR2_HUMAN	316	H	Y	Polymorphism	-
P34981	TRFR_HUMAN	10	N	K	Polymorphism	-
P34981	TRFR_HUMAN	168	I	M	Polymorphism	-
P34982	OR1D2_HUMAN	31	F	Y	Polymorphism	-
P34982	OR1D2_HUMAN	240	T	I	Polymorphism	-
P34982	OR1D2_HUMAN	25	R	Q	Polymorphism	-
P34982	OR1D2_HUMAN	214	V	M	Polymorphism	-
P34995	PE2R1_HUMAN	256	H	R	Polymorphism	-
P34995	PE2R1_HUMAN	223	T	M	Polymorphism	-
P34995	PE2R1_HUMAN	71	A	T	Polymorphism	-
P35030	TRY3_HUMAN	174	A	V	Polymorphism	-
P35030	TRY3_HUMAN	232	Y	C	Polymorphism	-
P35030	TRY3_HUMAN	224	T	S	Polymorphism	-
P35030	TRY3_HUMAN	188	T	A	Polymorphism	-
P35052	GPC1_HUMAN	500	S	G	Polymorphism	-
P35052	GPC1_HUMAN	337	A	D	Unclassified	A breast cancer sample
P35070	BTC_HUMAN	124	L	M	Polymorphism	-
P35070	BTC_HUMAN	44	L	F	Polymorphism	-
P35070	BTC_HUMAN	7	C	G	Polymorphism	-
P35125	UBP6_HUMAN	525	V	I	Polymorphism	-
P35125	UBP6_HUMAN	912	R	Q	Polymorphism	-
P35125	UBP6_HUMAN	475	W	R	Polymorphism	-
P35212	CXA4_HUMAN	319	P	S	Polymorphism	-
P35212	CXA4_HUMAN	71	P	S	Polymorphism	-
P35212	CXA4_HUMAN	130	V	I	Polymorphism	-
P35212	CXA4_HUMAN	128	A	V	Polymorphism	-
P35218	CAH5A_HUMAN	233	S	P	Disease	Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD) [MIM:615751]
P35219	CAH8_HUMAN	100	S	P	Disease	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3) [MIM:613227]
P35221	CTNA1_HUMAN	179	A	V	Polymorphism	-
P35221	CTNA1_HUMAN	431	I	M	Disease	Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970]
P35221	CTNA1_HUMAN	219	P	S	Polymorphism	-
P35221	CTNA1_HUMAN	54	R	C	Disease	Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970]
P35221	CTNA1_HUMAN	318	L	S	Disease	Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970]
P35221	CTNA1_HUMAN	307	E	K	Disease	Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970]
P35222	CTNB1_HUMAN	710	R	C	Unclassified	Vitreoretinopathy, exudative 7 (EVR7) [MIM:617572]
P35222	CTNB1_HUMAN	388	L	P	Disease	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]
P35222	CTNB1_HUMAN	41	T	I	Disease	Pilomatrixoma (PTR) [MIM:132600]
P35222	CTNB1_HUMAN	37	S	C	Disease	Ovarian cancer (OC) [MIM:167000]
P35222	CTNB1_HUMAN	32	D	G	Disease	Pilomatrixoma (PTR) [MIM:132600]
P35222	CTNB1_HUMAN	33	S	F	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	688	M	V	Polymorphism	-
P35222	CTNB1_HUMAN	35	I	S	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	37	S	A	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	32	D	A	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	33	S	L	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	37	S	Y	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	37	S	A	Disease	Medulloblastoma (MDB) [MIM:155255]
P35222	CTNB1_HUMAN	32	D	Y	Disease	Pilomatrixoma (PTR) [MIM:132600]
P35222	CTNB1_HUMAN	23	S	R	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	32	D	Y	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	41	T	I	Disease	Ovarian cancer (OC) [MIM:167000]
P35222	CTNB1_HUMAN	45	S	P	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	32	D	G	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	34	G	E	Disease	Pilomatrixoma (PTR) [MIM:132600]
P35222	CTNB1_HUMAN	33	S	F	Disease	Medulloblastoma (MDB) [MIM:155255]
P35222	CTNB1_HUMAN	37	S	F	Disease	Pilomatrixoma (PTR) [MIM:132600]
P35222	CTNB1_HUMAN	33	S	Y	Disease	Pilomatrixoma (PTR) [MIM:132600]
P35222	CTNB1_HUMAN	33	S	F	Disease	Pilomatrixoma (PTR) [MIM:132600]
P35222	CTNB1_HUMAN	41	T	A	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	37	S	C	Disease	Pilomatrixoma (PTR) [MIM:132600]
P35222	CTNB1_HUMAN	33	S	Y	Disease	Colorectal cancer (CRC) [MIM:114500]
P35222	CTNB1_HUMAN	41	T	I	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	45	S	F	Unclassified	Hepatocellular carcinoma
P35222	CTNB1_HUMAN	34	G	V	Polymorphism	-
P35222	CTNB1_HUMAN	34	G	R	Unclassified	Hepatocellular carcinoma
P35225	IL13_HUMAN	144	R	Q	Polymorphism	-
P35226	BMI1_HUMAN	18	C	Y	Polymorphism	-
P35228	NOS2_HUMAN	679	A	S	Unclassified	A breast cancer sample
P35228	NOS2_HUMAN	608	S	L	Polymorphism	-
P35228	NOS2_HUMAN	747	T	A	Polymorphism	-
P35228	NOS2_HUMAN	221	R	W	Polymorphism	-
P35228	NOS2_HUMAN	1009	R	C	Polymorphism	-
P35232	PHB_HUMAN	105	R	H	Unclassified	A breast cancer sample
P35232	PHB_HUMAN	88	V	A	Unclassified	A breast cancer sample
P35237	SPB6_HUMAN	153	G	S	Polymorphism	-
P35237	SPB6_HUMAN	90	M	V	Polymorphism	-
P35240	MERL_HUMAN	535	L	P	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	197	G	C	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	538	Q	P	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	364	K	I	Unclassified	Melanoma
P35240	MERL_HUMAN	46	L	R	Unclassified	-
P35240	MERL_HUMAN	220	N	Y	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	141	L	P	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	360	L	P	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	219	V	M	Polymorphism	-
P35240	MERL_HUMAN	463	E	K	Unclassified	A breast cancer sample
P35240	MERL_HUMAN	351	R	H	Polymorphism	-
P35240	MERL_HUMAN	117	L	I	Unclassified	-
P35240	MERL_HUMAN	106	E	G	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	77	M	V	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	273	I	F	Unclassified	Breast ductal carcinoma
P35240	MERL_HUMAN	413	K	E	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	339	L	F	Unclassified	-
P35240	MERL_HUMAN	79	K	E	Unclassified	-
P35240	MERL_HUMAN	62	F	S	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	133	C	R	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	352	T	M	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	533	K	T	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	234	L	R	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	539	L	H	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35240	MERL_HUMAN	418	R	C	Polymorphism	-
P35240	MERL_HUMAN	579	K	M	Disease	Neurofibromatosis 2 (NF2) [MIM:101000]
P35241	RADI_HUMAN	328	K	E	Polymorphism	-
P35241	RADI_HUMAN	490	D	N	Polymorphism	-
P35241	RADI_HUMAN	578	D	N	Disease	Deafness, autosomal recessive, 24 (DFNB24) [MIM:611022]
P35247	SFTPD_HUMAN	290	S	T	Polymorphism	-
P35247	SFTPD_HUMAN	31	M	T	Polymorphism	-
P35247	SFTPD_HUMAN	123	L	V	Polymorphism	-
P35247	SFTPD_HUMAN	309	E	K	Polymorphism	-
P35247	SFTPD_HUMAN	180	T	A	Polymorphism	-
P35249	RFC4_HUMAN	292	V	A	Polymorphism	-
P35249	RFC4_HUMAN	354	T	S	Unclassified	A breast cancer sample
P35250	RFC2_HUMAN	232	A	V	Polymorphism	-
P35251	RFC1_HUMAN	955	Q	K	Polymorphism	-
P35251	RFC1_HUMAN	598	I	V	Polymorphism	-
P35251	RFC1_HUMAN	613	R	L	Polymorphism	-
P35251	RFC1_HUMAN	692	E	D	Polymorphism	-
P35251	RFC1_HUMAN	1146	S	L	Polymorphism	-
P35269	T2FA_HUMAN	3	A	V	Polymorphism	-
P35270	SPRE_HUMAN	163	P	L	Disease	Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]
P35270	SPRE_HUMAN	150	R	G	Disease	Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]
P35318	ADML_HUMAN	50	S	R	Polymorphism	-
P35318	ADML_HUMAN	85	P	R	Polymorphism	-
P35321	SPR1A_HUMAN	61	V	I	Polymorphism	-
P35321	SPR1A_HUMAN	42	H	Q	Polymorphism	-
P35325	SPR2B_HUMAN	39	P	S	Polymorphism	-
P35346	SSR5_HUMAN	357	G	R	Polymorphism	-
P35346	SSR5_HUMAN	267	V	I	Polymorphism	-
P35346	SSR5_HUMAN	109	P	S	Polymorphism	-
P35346	SSR5_HUMAN	105	W	R	Polymorphism	-
P35346	SSR5_HUMAN	333	T	M	Polymorphism	-
P35346	SSR5_HUMAN	335	P	L	Polymorphism	-
P35346	SSR5_HUMAN	52	A	V	Polymorphism	-
P35346	SSR5_HUMAN	48	L	M	Polymorphism	-
P35346	SSR5_HUMAN	234	R	C	Polymorphism	-
P35346	SSR5_HUMAN	339	R	K	Polymorphism	-
P35346	SSR5_HUMAN	251	L	S	Polymorphism	-
P35346	SSR5_HUMAN	37	G	R	Polymorphism	-
P35348	ADA1A_HUMAN	200	I	S	Polymorphism	-
P35348	ADA1A_HUMAN	414	K	R	Polymorphism	-
P35348	ADA1A_HUMAN	465	E	D	Polymorphism	-
P35348	ADA1A_HUMAN	347	C	R	Polymorphism	-
P35348	ADA1A_HUMAN	40	G	W	Unclassified	A breast cancer sample
P35354	PGH2_HUMAN	428	P	A	Polymorphism	-
P35354	PGH2_HUMAN	511	V	A	Polymorphism	-
P35354	PGH2_HUMAN	587	G	R	Polymorphism	-
P35354	PGH2_HUMAN	228	R	H	Polymorphism	-
P35354	PGH2_HUMAN	488	E	G	Polymorphism	-
P35367	HRH1_HUMAN	385	D	E	Unclassified	A colorectal cancer sample
P35367	HRH1_HUMAN	270	G	E	Polymorphism	-
P35367	HRH1_HUMAN	19	K	N	Polymorphism	-
P35368	ADA1B_HUMAN	51	V	G	Polymorphism	-
P35372	OPRM_HUMAN	274	D	N	Polymorphism	-
P35372	OPRM_HUMAN	40	N	D	Polymorphism	-
P35372	OPRM_HUMAN	63	G	V	Polymorphism	-
P35372	OPRM_HUMAN	152	N	D	Polymorphism	-
P35372	OPRM_HUMAN	265	R	C	Polymorphism	-
P35372	OPRM_HUMAN	6	A	V	Polymorphism	-
P35372	OPRM_HUMAN	147	S	C	Polymorphism	-
P35372	OPRM_HUMAN	66	S	F	Polymorphism	-
P35372	OPRM_HUMAN	260	R	H	Polymorphism	-
P35398	RORA_HUMAN	462	R	Q	Disease	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060]
P35398	RORA_HUMAN	476	T	A	Polymorphism	-
P35398	RORA_HUMAN	94	K	R	Disease	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060]
P35398	RORA_HUMAN	92	G	A	Disease	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060]
P35398	RORA_HUMAN	409	S	R	Disease	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060]
P35398	RORA_HUMAN	90	C	S	Unclassified	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060]
P35410	MAS1L_HUMAN	288	D	E	Polymorphism	-
P35414	APJ_HUMAN	300	V	I	Polymorphism	-
P35442	TSP2_HUMAN	375	L	F	Polymorphism	-
P35442	TSP2_HUMAN	133	T	S	Polymorphism	-
P35443	TSP4_HUMAN	387	A	P	Polymorphism	-
P35443	TSP4_HUMAN	420	A	V	Polymorphism	-
P35443	TSP4_HUMAN	55	L	Q	Polymorphism	-
P35443	TSP4_HUMAN	737	V	I	Polymorphism	-
P35443	TSP4_HUMAN	646	V	I	Polymorphism	-
P35452	HXD12_HUMAN	186	R	Q	Polymorphism	-
P35453	HXD13_HUMAN	325	Q	K	Disease	Brachydactyly-syndactyly-oligodactyly syndrome (BDSDO) [MIM:610713]
P35453	HXD13_HUMAN	252	S	A	Polymorphism	-
P35453	HXD13_HUMAN	316	S	C	Disease	Brachydactyly E1 (BDE1) [MIM:113300]
P35453	HXD13_HUMAN	322	I	L	Disease	Brachydactyly E1 (BDE1) [MIM:113300]
P35453	HXD13_HUMAN	325	Q	R	Disease	Syndactyly 5 (SDTY5) [MIM:186300]
P35453	HXD13_HUMAN	313	T	R	Disease	Synpolydactyly 1 (SPD1) [MIM:186000]
P35453	HXD13_HUMAN	306	R	W	Disease	Synpolydactyly 1 (SPD1) [MIM:186000]
P35453	HXD13_HUMAN	306	R	Q	Disease	Synpolydactyly 1 (SPD1) [MIM:186000]
P35453	HXD13_HUMAN	316	S	C	Disease	Brachydactyly D (BDD) [MIM:113200]
P35453	HXD13_HUMAN	306	R	G	Disease	Synpolydactyly 1 (SPD1) [MIM:186000]
P35462	DRD3_HUMAN	9	S	G	Polymorphism	-
P35475	IDUA_HUMAN	533	P	R	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	208	G	D	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	238	L	Q	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	348	N	K	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	388	T	R	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	533	P	R	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	363	R	C	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	504	M	T	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	489	R	P	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	380	Q	R	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	496	P	L	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	350	N	I	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	454	V	I	Polymorphism	-
P35475	IDUA_HUMAN	79	A	V	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	409	G	R	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	178	E	K	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	265	G	R	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	300	A	T	Polymorphism	-
P35475	IDUA_HUMAN	626	W	R	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	449	H	N	Polymorphism	-
P35475	IDUA_HUMAN	535	L	F	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	490	L	P	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	436	A	P	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	383	R	H	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	602	F	I	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	84	G	R	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	276	E	K	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	182	E	K	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	346	L	R	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	133	M	I	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	492	R	P	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	219	G	E	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	423	S	R	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	103	T	P	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	18	L	P	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	620	V	F	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	349	D	Y	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	188	F	L	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	490	L	P	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	628	R	P	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	619	R	G	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	385	P	R	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	306	W	L	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	396	L	P	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	76	Y	C	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	361	A	T	Polymorphism	-
P35475	IDUA_HUMAN	75	A	T	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	82	H	P	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	260	S	F	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	496	P	R	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	423	S	R	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	349	D	N	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	82	H	Q	Polymorphism	-
P35475	IDUA_HUMAN	276	E	K	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	366	T	P	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	51	G	D	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	591	A	T	Polymorphism	-
P35475	IDUA_HUMAN	33	H	Q	Polymorphism	-
P35475	IDUA_HUMAN	116	G	R	Polymorphism	-
P35475	IDUA_HUMAN	105	R	Q	Polymorphism	-
P35475	IDUA_HUMAN	89	R	Q	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	315	D	Y	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	89	R	W	Disease	Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
P35475	IDUA_HUMAN	279	V	A	Polymorphism	-
P35475	IDUA_HUMAN	380	Q	R	Disease	Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
P35475	IDUA_HUMAN	327	A	P	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35475	IDUA_HUMAN	218	L	P	Disease	Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
P35498	SCN1A_HUMAN	1231	S	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1245	R	Q	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	987	F	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1575	R	C	Unclassified	-
P35498	SCN1A_HUMAN	1674	G	S	Unclassified	-
P35498	SCN1A_HUMAN	1977	M	L	Unclassified	-
P35498	SCN1A_HUMAN	1588	C	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1451	P	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1632	P	S	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1345	P	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	145	M	T	Disease	Febrile seizures, familial, 3A (FEB3A) [MIM:604403]
P35498	SCN1A_HUMAN	950	G	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1630	V	M	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1483	I	M	Disease	-
P35498	SCN1A_HUMAN	949	C	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1592	L	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	973	M	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1433	G	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1440	A	V	Unclassified	-
P35498	SCN1A_HUMAN	112	T	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	859	R	C	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1668	P	A	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	982	V	L	Unclassified	-
P35498	SCN1A_HUMAN	846	E	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	960	M	T	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	943	I	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1472	F	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1476	N	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1657	R	C	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	931	R	H	Disease	-
P35498	SCN1A_HUMAN	1450	Q	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1470	G	W	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1270	K	T	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	393	R	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1544	D	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	949	C	Y	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	378	L	Q	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	976	M	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1484	D	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1611	V	F	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1660	L	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1275	G	A	Unclassified	-
P35498	SCN1A_HUMAN	1422	Y	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1454	E	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1353	V	L	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1308	E	D	Unclassified	Febrile seizures, familial, 3A (FEB3A) [MIM:604403]
P35498	SCN1A_HUMAN	1489	Q	K	Disease	Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]
P35498	SCN1A_HUMAN	382	D	N	Disease	-
P35498	SCN1A_HUMAN	979	G	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1638	I	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1867	I	T	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1503	E	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	875	T	M	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	932	W	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1608	D	Y	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1648	R	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1880	G	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	101	R	Q	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1685	A	D	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	78	E	D	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	101	R	Q	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	978	I	M	Unclassified	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1638	I	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	957	W	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	377	R	Q	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	976	M	I	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	935	N	H	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	357	N	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1642	R	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1656	I	M	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	113	P	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1426	L	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1988	R	W	Unclassified	-
P35498	SCN1A_HUMAN	1639	R	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	108	L	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	395	A	P	Disease	-
P35498	SCN1A_HUMAN	1653	A	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1250	T	M	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	939	H	P	Unclassified	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	359	N	S	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1555	M	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1475	L	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	956	M	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	384	W	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	175	A	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1414	N	Y	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	98	A	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1463	F	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1762	G	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1674	G	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1713	S	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	289	E	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	333	A	V	Polymorphism	-
P35498	SCN1A_HUMAN	1592	L	H	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1668	P	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1545	I	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	191	N	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1857	V	L	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1394	T	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	986	L	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	103	S	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	61	L	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1780	M	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1174	T	S	Disease	Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]
P35498	SCN1A_HUMAN	1485	N	Y	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1716	C	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	933	H	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1414	N	D	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1596	R	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	63	F	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	124	I	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1866	D	Y	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1662	A	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	228	S	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1661	F	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1260	T	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	616	E	D	Disease	-
P35498	SCN1A_HUMAN	1561	E	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	859	R	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	812	T	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1453	Y	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	363	T	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	406	V	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1417	N	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	227	I	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	223	A	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1922	I	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	379	M	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	177	G	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1787	E	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1658	T	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	58	G	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1763	I	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1648	R	H	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	243	S	Y	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	171	I	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	91	I	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1852	M	T	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	101	R	W	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	400	M	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1367	N	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	199	T	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	79	D	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	626	S	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1861	R	W	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1511	M	K	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1579	V	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	351	C	W	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	118	R	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1957	E	G	Polymorphism	-
P35498	SCN1A_HUMAN	899	I	T	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1852	M	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1648	R	H	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	179	C	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	105	T	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1462	Y	H	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1667	L	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1605	N	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1006	D	E	Disease	-
P35498	SCN1A_HUMAN	875	T	M	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	940	S	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	359	N	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	291	S	G	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	343	G	D	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	191	N	Y	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1350	V	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	68	I	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	178	F	S	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1739	P	L	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	383	F	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1781	Y	C	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1649	L	Q	Disease	Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]
P35498	SCN1A_HUMAN	1714	M	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1781	Y	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	194	D	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	175	A	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	45	D	N	Unclassified	-
P35498	SCN1A_HUMAN	1909	T	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	27	R	T	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1207	L	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1433	G	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1396	C	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1309	L	F	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	875	T	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	366	D	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1326	A	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1067	A	T	Polymorphism	-
P35498	SCN1A_HUMAN	1538	V	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1721	T	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	340	S	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1431	F	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1881	E	D	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	90	F	S	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1714	M	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1255	A	D	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1254	Y	C	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1462	Y	H	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1284	W	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1489	Q	H	Disease	Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]
P35498	SCN1A_HUMAN	1441	A	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1694	Y	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	986	L	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1725	G	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1068	E	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	74	S	P	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1727	D	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1461	L	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1684	Y	S	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	79	D	H	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1773	S	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1783	A	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1687	F	S	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	342	A	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	217	T	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1782	I	M	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	542	R	Q	Unclassified	-
P35498	SCN1A_HUMAN	902	F	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	865	R	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1783	A	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1339	A	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1434	W	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1287	L	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1450	Q	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	422	V	E	Disease	-
P35498	SCN1A_HUMAN	1544	D	A	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1480	G	V	Disease	-
P35498	SCN1A_HUMAN	403	F	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1685	A	V	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	388	Y	H	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	363	T	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	790	Y	C	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1749	G	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1265	L	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1328	S	P	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1391	N	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	973	M	V	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1288	D	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1316	R	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1707	F	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1765	F	L	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1608	D	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1657	R	H	Disease	-
P35498	SCN1A_HUMAN	993	S	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	162	T	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	227	I	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	90	F	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	171	I	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	239	A	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1709	T	I	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1692	F	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1770	I	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1428	V	A	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1390	V	M	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1636	R	Q	Disease	-
P35498	SCN1A_HUMAN	1239	D	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	358	P	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	896	V	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	239	A	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	931	R	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1079	V	I	Polymorphism	-
P35498	SCN1A_HUMAN	1724	A	P	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1781	Y	H	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	127	H	D	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	862	R	Q	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1230	L	F	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1688	G	W	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1204	W	S	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	942	L	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	927	C	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	896	V	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1795	E	K	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	998	D	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1808	F	L	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1955	I	T	Polymorphism	-
P35498	SCN1A_HUMAN	265	G	W	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1275	G	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1208	R	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1855	P	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	226	T	M	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1596	R	H	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1266	E	A	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1366	V	I	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1658	T	M	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	356	R	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	896	V	I	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1673	I	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	226	T	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1263	F	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1393	H	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1210	T	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1370	A	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1109	P	T	Polymorphism	-
P35498	SCN1A_HUMAN	1221	E	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1605	N	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	426	Y	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1230	L	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1437	I	M	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1664	M	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	254	T	I	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	252	I	M	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1385	F	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1812	W	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1378	N	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1788	N	K	Unclassified	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	84	Y	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	413	Y	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1213	R	Q	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	345	C	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	604	R	H	Polymorphism	-
P35498	SCN1A_HUMAN	1756	C	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	322	R	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	280	W	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	252	I	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1808	F	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	218	F	L	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	939	H	Y	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1378	N	H	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1328	S	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1357	F	L	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1782	I	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1771	I	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1742	D	G	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	188	D	V	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1770	I	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	426	Y	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	876	L	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1677	L	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1831	F	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	393	R	H	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1835	L	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1239	D	Y	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	944	V	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	403	F	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1249	K	N	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1619	M	V	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1770	I	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1499	F	L	Disease	Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]
P35498	SCN1A_HUMAN	232	G	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1726	W	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	859	R	H	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	190	W	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	983	V	A	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1358	W	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1675	L	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1672	N	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1792	A	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	954	E	K	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	783	L	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	979	G	R	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	355	G	D	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	843	S	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1741	C	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	393	R	H	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	277	C	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1683	I	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1233	G	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1011	N	I	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	945	F	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1231	S	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	393	R	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	952	W	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1771	I	N	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1204	W	R	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1326	A	D	Disease	-
P35498	SCN1A_HUMAN	1514	L	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	281	P	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	297	T	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	281	P	A	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1684	Y	D	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1376	C	R	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1344	I	M	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	960	M	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1418	V	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	959	C	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	946	R	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	290	H	R	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	939	H	Q	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1335	V	M	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1645	R	Q	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1427	Q	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1612	V	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	842	L	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1355	L	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1832	A	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	280	W	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1325	R	T	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1038	F	L	Unclassified	-
P35498	SCN1A_HUMAN	1423	L	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1630	V	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	944	V	A	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	259	S	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1462	Y	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1586	G	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	785	M	T	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	233	L	R	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	946	R	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	281	P	L	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1366	V	I	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	946	R	H	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	674	D	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1396	C	Y	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1451	P	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1637	V	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1433	G	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	944	V	A	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	812	T	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1316	R	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1429	A	D	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1683	I	F	Disease	-
P35498	SCN1A_HUMAN	409	L	W	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1034	I	T	Polymorphism	-
P35498	SCN1A_HUMAN	1812	W	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	924	A	T	Polymorphism	-
P35498	SCN1A_HUMAN	934	M	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1928	R	G	Polymorphism	-
P35498	SCN1A_HUMAN	890	L	P	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	194	D	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1596	R	C	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1543	F	S	Polymorphism	-
P35498	SCN1A_HUMAN	1358	W	S	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	985	N	I	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	950	G	E	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	946	R	H	Disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
P35498	SCN1A_HUMAN	1320	A	V	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	1238	E	D	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	790	Y	F	Disease	-
P35498	SCN1A_HUMAN	762	N	D	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	699	V	I	Polymorphism	-
P35498	SCN1A_HUMAN	525	S	F	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35498	SCN1A_HUMAN	808	T	S	Disease	Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
P35498	SCN1A_HUMAN	1416	D	G	Disease	Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]
P35499	SCN4A_HUMAN	861	A	D	Polymorphism	-
P35499	SCN4A_HUMAN	1306	G	V	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	1433	L	R	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	675	R	G	Disease	Periodic paralysis normokalemic (NKPP) [MIM:170500]
P35499	SCN4A_HUMAN	141	I	V	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	1156	A	T	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	672	R	C	Disease	Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
P35499	SCN4A_HUMAN	804	S	F	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	804	S	N	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	1456	G	E	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	1306	G	E	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	1306	G	A	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	1448	R	C	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	704	T	M	Disease	Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
P35499	SCN4A_HUMAN	135	M	V	Polymorphism	-
P35499	SCN4A_HUMAN	452	E	K	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	1306	G	E	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	704	T	M	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	675	R	Q	Disease	Periodic paralysis normokalemic (NKPP) [MIM:170500]
P35499	SCN4A_HUMAN	1313	T	M	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	1448	R	H	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	1132	R	Q	Disease	Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
P35499	SCN4A_HUMAN	1293	V	I	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	1156	A	T	Disease	Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
P35499	SCN4A_HUMAN	1156	A	T	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	1306	G	V	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	1476	M	I	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	1442	V	E	Disease	Myasthenic syndrome, congenital, 16 (CMS16) [MIM:614198]
P35499	SCN4A_HUMAN	781	V	I	Polymorphism	-
P35499	SCN4A_HUMAN	1376	N	D	Polymorphism	-
P35499	SCN4A_HUMAN	1473	F	S	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	1152	A	D	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	270	Q	K	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	246	S	L	Polymorphism	-
P35499	SCN4A_HUMAN	1433	L	R	Disease	Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
P35499	SCN4A_HUMAN	222	R	W	Disease	Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
P35499	SCN4A_HUMAN	1135	R	H	Disease	Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
P35499	SCN4A_HUMAN	559	N	D	Polymorphism	-
P35499	SCN4A_HUMAN	1129	R	Q	Disease	Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
P35499	SCN4A_HUMAN	1589	V	M	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	672	R	G	Disease	Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
P35499	SCN4A_HUMAN	715	A	T	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	1457	R	H	Disease	Myasthenic syndrome, congenital, 16 (CMS16) [MIM:614198]
P35499	SCN4A_HUMAN	693	I	T	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	1158	P	S	Disease	Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
P35499	SCN4A_HUMAN	671	F	S	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	1592	M	V	Disease	Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
P35499	SCN4A_HUMAN	225	R	W	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	672	R	S	Disease	Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
P35499	SCN4A_HUMAN	1448	R	L	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	72	P	L	Unclassified	-
P35499	SCN4A_HUMAN	1160	I	V	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	672	R	H	Disease	Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
P35499	SCN4A_HUMAN	1297	N	K	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	669	R	H	Disease	Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
P35499	SCN4A_HUMAN	1633	Q	E	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	1592	M	V	Disease	Periodic paralysis normokalemic (NKPP) [MIM:170500]
P35499	SCN4A_HUMAN	1705	F	I	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	1454	R	W	Disease	Myasthenic syndrome, congenital, 16 (CMS16) [MIM:614198]
P35499	SCN4A_HUMAN	445	V	M	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	1310	I	N	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	675	R	W	Disease	Periodic paralysis normokalemic (NKPP) [MIM:170500]
P35499	SCN4A_HUMAN	1436	L	P	Disease	Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
P35499	SCN4A_HUMAN	1290	F	L	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	524	S	G	Polymorphism	-
P35499	SCN4A_HUMAN	1481	A	D	Disease	Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
P35499	SCN4A_HUMAN	1129	R	Q	Disease	Periodic paralysis normokalemic (NKPP) [MIM:170500]
P35499	SCN4A_HUMAN	382	P	T	Disease	-
P35499	SCN4A_HUMAN	1135	R	C	Disease	Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
P35499	SCN4A_HUMAN	1209	C	F	Disease	-
P35499	SCN4A_HUMAN	104	R	H	Disease	-
P35499	SCN4A_HUMAN	203	M	K	Disease	-
P35499	SCN4A_HUMAN	1069	D	N	Disease	-
P35503	UD13_HUMAN	114	M	I	Polymorphism	-
P35503	UD13_HUMAN	158	A	V	Polymorphism	-
P35503	UD13_HUMAN	11	W	R	Polymorphism	-
P35503	UD13_HUMAN	144	T	I	Polymorphism	-
P35503	UD13_HUMAN	6	Q	R	Polymorphism	-
P35503	UD13_HUMAN	45	R	W	Polymorphism	-
P35503	UD13_HUMAN	270	M	V	Polymorphism	-
P35503	UD13_HUMAN	49	R	W	Polymorphism	-
P35503	UD13_HUMAN	47	V	A	Polymorphism	-
P35503	UD13_HUMAN	78	T	I	Polymorphism	-
P35504	UD15_HUMAN	158	A	G	Polymorphism	-
P35504	UD15_HUMAN	63	L	P	Polymorphism	-
P35504	UD15_HUMAN	48	L	S	Polymorphism	-
P35504	UD15_HUMAN	142	H	N	Polymorphism	-
P35504	UD15_HUMAN	225	H	Y	Polymorphism	-
P35504	UD15_HUMAN	144	T	S	Polymorphism	-
P35504	UD15_HUMAN	50	D	E	Polymorphism	-
P35504	UD15_HUMAN	249	V	L	Polymorphism	-
P35504	UD15_HUMAN	259	G	R	Polymorphism	-
P35520	CBS_HUMAN	176	E	K	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	371	V	M	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	191	T	M	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	85	G	R	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	539	L	S	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	226	A	T	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	336	R	H	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	278	I	T	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	78	P	R	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	165	C	Y	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	336	R	C	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	435	I	T	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	144	E	K	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	125	R	W	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	302	E	K	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	49	P	L	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	168	V	M	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	148	G	R	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	145	P	L	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	224	R	H	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	454	V	E	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	391	M	I	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	353	T	M	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	290	P	L	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	257	T	M	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	151	G	R	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	121	R	C	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	331	A	V	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	266	R	G	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	369	R	H	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	307	G	S	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	88	P	S	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	352	S	N	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	121	R	H	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	102	K	Q	Polymorphism	-
P35520	CBS_HUMAN	18	R	C	Polymorphism	-
P35520	CBS_HUMAN	131	E	D	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	139	G	R	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	331	A	E	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	114	A	V	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	102	K	N	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	125	R	Q	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	266	R	K	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	444	D	N	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	116	G	R	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	152	I	M	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	155	A	T	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	121	R	L	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	228	N	S	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	239	E	K	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	180	V	A	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	361	A	T	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	69	A	P	Polymorphism	-
P35520	CBS_HUMAN	376	D	N	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	379	R	W	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	434	T	N	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	305	G	R	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	384	K	E	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	262	T	M	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	154	L	Q	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	128	E	D	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	87	T	N	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	126	M	V	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	173	M	V	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	200	P	L	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	338	L	P	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	439	R	Q	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	534	V	D	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	526	Q	K	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	234	D	N	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	58	R	W	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	379	R	Q	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	347	G	S	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	155	A	V	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	321	D	V	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	456	L	P	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	275	C	Y	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	231	A	P	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	466	S	L	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	491	R	C	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	228	N	K	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	369	R	C	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	198	D	V	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	320	V	A	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	449	V	G	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	349	S	N	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	500	S	L	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	278	I	S	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	288	A	T	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	355	A	P	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	168	V	A	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	288	A	P	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	109	C	R	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	101	L	P	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	125	R	P	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	65	H	R	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	354	V	M	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	281	D	N	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	384	K	N	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	540	L	Q	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	548	R	Q	Polymorphism	-
P35520	CBS_HUMAN	262	T	R	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	427	P	L	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	370	C	Y	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	422	P	L	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	143	I	M	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35520	CBS_HUMAN	446	A	S	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P35523	CLCN1_HUMAN	313	A	T	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	499	G	R	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	338	R	Q	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	527	I	T	Unclassified	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	300	R	Q	Polymorphism	-
P35523	CLCN1_HUMAN	614	K	N	Polymorphism	-
P35523	CLCN1_HUMAN	485	M	V	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	327	V	I	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	536	V	L	Unclassified	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	286	V	A	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	290	I	M	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	484	F	L	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	552	Q	R	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	291	E	K	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	236	V	L	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	708	F	L	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	533	T	I	Unclassified	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	329	I	T	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	453	R	W	Unclassified	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	313	A	T	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	230	G	E	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	412	Q	P	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	161	F	V	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	164	W	R	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	548	E	K	Unclassified	A breast cancer sample
P35523	CLCN1_HUMAN	556	I	N	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	563	V	I	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	552	Q	R	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	307	F	S	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	413	F	C	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	437	A	T	Polymorphism	-
P35523	CLCN1_HUMAN	640	V	G	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	261	Y	C	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	482	G	R	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	200	G	R	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	556	I	N	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	496	R	S	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	190	G	S	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	727	P	L	Polymorphism	-
P35523	CLCN1_HUMAN	855	G	E	Unclassified	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	43	Q	R	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	338	R	Q	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	270	G	V	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	105	R	C	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	230	G	E	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	277	C	R	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	167	F	L	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	628	L	P	Unclassified	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	128	M	V	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	845	G	S	Unclassified	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	950	E	K	Unclassified	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	154	Q	R	Polymorphism	-
P35523	CLCN1_HUMAN	277	C	Y	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	317	R	Q	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	137	Y	D	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	198	L	P	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	165	V	G	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	193	E	K	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	947	V	E	Unclassified	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	415	A	V	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	197	I	R	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	932	P	L	Unclassified	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	70	S	L	Unclassified	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	118	G	W	Polymorphism	-
P35523	CLCN1_HUMAN	82	T	A	Unclassified	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	285	G	E	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	150	Y	C	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	480	P	H	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	161	F	V	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	136	D	G	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	160	Q	H	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35523	CLCN1_HUMAN	480	P	L	Disease	Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
P35523	CLCN1_HUMAN	200	G	R	Disease	Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
P35527	K1C9_HUMAN	161	N	S	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	160	L	F	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	157	M	R	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	172	Q	P	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	161	N	Y	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	161	N	H	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	454	Y	H	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	163	R	Q	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	163	R	P	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	171	V	M	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	161	N	I	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	458	L	F	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	458	L	P	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	157	M	K	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	406	C	R	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	157	M	T	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	161	N	K	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	160	L	V	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	168	L	S	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	163	R	W	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35527	K1C9_HUMAN	157	M	V	Disease	Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]
P35542	SAA4_HUMAN	89	C	Y	Polymorphism	-
P35544	UBIM_HUMAN	53	T	I	Polymorphism	-
P35548	MSX2_HUMAN	148	P	L	Disease	Craniosynostosis 2 (CRS2) [MIM:604757]
P35548	MSX2_HUMAN	172	R	H	Disease	Parietal foramina 1 (PFM1) [MIM:168500]
P35548	MSX2_HUMAN	154	L	P	Disease	Parietal foramina 1 (PFM1) [MIM:168500]
P35548	MSX2_HUMAN	148	P	H	Disease	Craniosynostosis 2 (CRS2) [MIM:604757]
P35548	MSX2_HUMAN	129	M	T	Polymorphism	-
P35555	FBN1_HUMAN	685	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	985	G	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1278	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2406	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	617	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2339	C	Y	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	1700	Y	C	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
P35555	FBN1_HUMAN	499	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1699	Y	C	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
P35555	FBN1_HUMAN	1366	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2793	Y	H	Disease	-
P35555	FBN1_HUMAN	1900	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	611	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1793	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1374	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	921	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1696	Y	C	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
P35555	FBN1_HUMAN	1719	C	W	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
P35555	FBN1_HUMAN	1699	Y	C	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
P35555	FBN1_HUMAN	1706	C	Y	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
P35555	FBN1_HUMAN	1714	M	R	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
P35555	FBN1_HUMAN	80	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1113	D	G	Polymorphism	-
P35555	FBN1_HUMAN	1261	Y	D	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1068	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1895	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1333	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1928	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1835	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2111	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2154	P	R	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	2221	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1699	Y	D	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
P35555	FBN1_HUMAN	1594	G	D	Disease	Stiff skin syndrome (SSKS) [MIM:184900]
P35555	FBN1_HUMAN	2335	R	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1672	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1674	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1720	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1284	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1777	C	F	Disease	-
P35555	FBN1_HUMAN	1402	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1424	P	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2038	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2085	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1564	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	363	G	S	Polymorphism	-
P35555	FBN1_HUMAN	1722	S	C	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
P35555	FBN1_HUMAN	1339	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2500	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2500	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2535	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	908	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2570	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2474	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1044	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1475	G	E	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1475	G	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1101	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1576	M	T	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	329	I	T	Polymorphism	-
P35555	FBN1_HUMAN	2269	I	T	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	133	H	Q	Polymorphism	-
P35555	FBN1_HUMAN	1796	G	E	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1219	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	504	C	R	Disease	-
P35555	FBN1_HUMAN	1909	I	T	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1915	R	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1971	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1928	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1055	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2101	T	M	Polymorphism	-
P35555	FBN1_HUMAN	862	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	926	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1048	I	V	Polymorphism	-
P35555	FBN1_HUMAN	996	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1013	G	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1023	K	N	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1043	K	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1726	G	V	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
P35555	FBN1_HUMAN	2442	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	882	A	V	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1977	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1998	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	910	D	H	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	937	C	R	Disease	-
P35555	FBN1_HUMAN	954	R	C	Disease	-
P35555	FBN1_HUMAN	2223	N	H	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1337	A	P	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1185	G	D	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1284	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1350	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2571	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1389	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2592	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	884	G	E	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	908	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1530	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1976	E	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1984	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1790	R	P	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2663	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1793	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1153	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1265	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1307	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	546	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	576	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	582	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1530	R	C	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	623	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	634	S	P	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	652	C	Y	Disease	-
P35555	FBN1_HUMAN	684	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	984	V	I	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1631	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1663	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	816	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	781	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	816	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	890	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	913	E	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	596	C	R	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	2581	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1055	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	790	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	811	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	974	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2385	A	T	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1008	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1020	T	A	Disease	-
P35555	FBN1_HUMAN	1028	D	G	Disease	-
P35555	FBN1_HUMAN	1401	T	A	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2536	G	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1074	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1728	A	T	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
P35555	FBN1_HUMAN	1117	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2605	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1564	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1770	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1838	G	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1791	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1223	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1249	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	545	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1806	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2185	I	T	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2247	D	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2318	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2442	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2646	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	723	D	A	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	746	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	750	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	699	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2195	G	R	Disease	-
P35555	FBN1_HUMAN	2221	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1577	C	G	Disease	Stiff skin syndrome (SSKS) [MIM:184900]
P35555	FBN1_HUMAN	2232	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2234	V	M	Disease	-
P35555	FBN1_HUMAN	1048	I	T	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1728	A	T	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
P35555	FBN1_HUMAN	2489	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2511	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2585	I	T	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2618	G	R	Unclassified	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2624	N	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1128	V	I	Unclassified	-
P35555	FBN1_HUMAN	1200	E	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1325	E	Q	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1847	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1847	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1032	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1865	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1431	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1088	N	I	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1429	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1481	S	G	Polymorphism	-
P35555	FBN1_HUMAN	2610	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1489	N	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	832	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1199	D	A	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	490	D	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	545	R	C	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	1513	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1589	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1610	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1663	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1837	P	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1893	N	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1928	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2099	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2111	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2127	D	E	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2153	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2151	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2221	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2224	T	P	Disease	-
P35555	FBN1_HUMAN	2282	R	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	828	F	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	880	G	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	882	A	V	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	2258	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1053	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2623	H	P	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2627	G	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2680	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2726	R	W	Disease	-
P35555	FBN1_HUMAN	504	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	976	R	H	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1261	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1833	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1860	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	27	A	T	Polymorphism	-
P35555	FBN1_HUMAN	62	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1431	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	111	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	114	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1487	D	A	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1138	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1158	E	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1934	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	560	G	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	570	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	592	G	D	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1977	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	596	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1282	N	S	Polymorphism	-
P35555	FBN1_HUMAN	1672	C	F	Polymorphism	-
P35555	FBN1_HUMAN	2018	V	I	Polymorphism	-
P35555	FBN1_HUMAN	2053	C	F	Polymorphism	-
P35555	FBN1_HUMAN	2113	Y	F	Polymorphism	-
P35555	FBN1_HUMAN	2170	C	F	Polymorphism	-
P35555	FBN1_HUMAN	2278	P	S	Polymorphism	-
P35555	FBN1_HUMAN	2144	N	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1622	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1633	C	S	Disease	-
P35555	FBN1_HUMAN	2258	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1672	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	727	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	776	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2250	E	G	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	2447	E	K	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	1791	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1728	A	V	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
P35555	FBN1_HUMAN	1072	D	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1811	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1812	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	853	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	926	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1090	P	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1830	S	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2142	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	63	Y	C	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	1265	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	89	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	123	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	122	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1130	H	P	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	166	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	166	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	217	W	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	476	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1930	D	H	Disease	-
P35555	FBN1_HUMAN	1934	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1058	G	D	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	548	N	I	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	587	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2166	D	N	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	661	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	705	A	T	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	711	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2130	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2136	V	D	Disease	-
P35555	FBN1_HUMAN	2144	N	D	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2145	T	P	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2329	D	E	Polymorphism	-
P35555	FBN1_HUMAN	472	Y	C	Polymorphism	-
P35555	FBN1_HUMAN	721	G	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1570	W	C	Disease	Stiff skin syndrome (SSKS) [MIM:184900]
P35555	FBN1_HUMAN	776	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2307	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	68	C	S	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	1042	G	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1806	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1876	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1733	C	Y	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
P35555	FBN1_HUMAN	1750	S	R	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
P35555	FBN1_HUMAN	1758	D	V	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
P35555	FBN1_HUMAN	2652	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2668	G	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	985	G	E	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1835	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2160	A	P	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1137	R	P	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	449	V	I	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	474	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	177	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1424	P	A	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	636	R	I	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	781	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1242	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1249	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1382	N	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1404	D	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	890	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1113	D	V	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	365	C	W	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	2448	C	R	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	57	N	D	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	488	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1346	F	L	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1402	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1406	D	G	Disease	-
P35555	FBN1_HUMAN	1427	Y	D	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1485	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	723	D	V	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1528	D	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1642	D	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1564	C	S	Disease	Stiff skin syndrome (SSKS) [MIM:184900]
P35555	FBN1_HUMAN	1131	N	Y	Polymorphism	-
P35555	FBN1_HUMAN	1977	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	598	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	20	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2447	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2272	Y	C	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	1887	T	I	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1796	G	V	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1074	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1086	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1129	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2221	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2251	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	219	H	Q	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1127	G	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2365	C	Y	Disease	-
P35555	FBN1_HUMAN	1320	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	127	G	D	Disease	-
P35555	FBN1_HUMAN	136	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	115	S	C	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	154	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	240	R	C	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	1182	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	366	W	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2629	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	177	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	55	G	E	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2741	I	T	Disease	Marfanoid-progeroid-lipodystrophy syndrome (MFLS) [MIM:616914]
P35555	FBN1_HUMAN	365	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1987	G	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1326	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2105	E	K	Disease	-
P35555	FBN1_HUMAN	2118	I	M	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	681	S	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	683	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	685	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2274	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1812	C	Y	Disease	-
P35555	FBN1_HUMAN	748	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2561	T	P	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1117	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2302	C	Y	Disease	-
P35555	FBN1_HUMAN	2780	L	P	Disease	-
P35555	FBN1_HUMAN	1148	P	A	Polymorphism	-
P35555	FBN1_HUMAN	100	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1155	D	N	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	1055	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1073	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2273	M	T	Disease	-
P35555	FBN1_HUMAN	1908	T	I	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1919	G	D	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1826	N	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	734	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2541	C	F	Disease	-
P35555	FBN1_HUMAN	2555	G	V	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2554	R	W	Disease	-
P35555	FBN1_HUMAN	627	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2084	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	654	D	N	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	129	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1894	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1907	N	S	Disease	-
P35555	FBN1_HUMAN	1223	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	635	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2708	N	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	39	A	P	Disease	-
P35555	FBN1_HUMAN	1117	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2289	C	W	Disease	-
P35555	FBN1_HUMAN	661	C	Y	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
P35555	FBN1_HUMAN	214	G	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2470	C	W	Disease	-
P35555	FBN1_HUMAN	2470	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	164	N	S	Disease	-
P35555	FBN1_HUMAN	224	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	439	R	G	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1879	G	D	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1173	N	K	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1762	G	S	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
P35555	FBN1_HUMAN	240	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	177	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	652	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2516	T	I	Disease	-
P35555	FBN1_HUMAN	2577	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1155	D	N	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1153	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	160	C	R	Disease	-
P35555	FBN1_HUMAN	2084	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2284	P	T	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1171	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	1170	R	H	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2520	T	M	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	541	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2577	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2522	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
P35555	FBN1_HUMAN	2526	N	S	Disease	-
P35556	FBN2_HUMAN	2581	L	S	Polymorphism	-
P35556	FBN2_HUMAN	1406	C	R	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1257	C	R	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	2266	F	L	Polymorphism	-
P35556	FBN2_HUMAN	1384	C	F	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1381	H	N	Polymorphism	-
P35556	FBN2_HUMAN	2278	T	M	Polymorphism	-
P35556	FBN2_HUMAN	2580	S	L	Polymorphism	-
P35556	FBN2_HUMAN	1142	C	R	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	391	E	K	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	594	T	S	Polymorphism	-
P35556	FBN2_HUMAN	1057	G	D	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1268	C	R	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1240	C	R	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1156	C	F	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1259	N	K	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1179	G	C	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1438	E	K	Polymorphism	-
P35556	FBN2_HUMAN	2428	P	T	Polymorphism	-
P35556	FBN2_HUMAN	1091	N	S	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1408	D	N	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1122	S	P	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1161	E	K	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1416	T	A	Polymorphism	-
P35556	FBN2_HUMAN	1093	I	T	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1257	C	W	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	2311	M	V	Polymorphism	-
P35556	FBN2_HUMAN	1146	Y	C	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1115	D	H	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1253	C	W	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	681	R	H	Polymorphism	-
P35556	FBN2_HUMAN	1253	C	Y	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1434	C	S	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1198	C	Y	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1384	C	Y	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1246	C	F	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	1142	C	F	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	2771	S	P	Polymorphism	-
P35556	FBN2_HUMAN	1425	C	R	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35556	FBN2_HUMAN	965	V	I	Polymorphism	-
P35556	FBN2_HUMAN	1772	W	G	Polymorphism	-
P35556	FBN2_HUMAN	1247	M	T	Disease	Macular degeneration, early-onset (EOMD) [MIM:616118]
P35556	FBN2_HUMAN	2062	E	V	Unclassified	-
P35556	FBN2_HUMAN	1144	E	K	Disease	Macular degeneration, early-onset (EOMD) [MIM:616118]
P35556	FBN2_HUMAN	754	G	S	Disease	Arthrogryposis, distal, 9 (DA9) [MIM:121050]
P35557	HXK4_HUMAN	441	S	W	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	65	T	I	Disease	Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]
P35557	HXK4_HUMAN	78	D	E	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	442	E	K	Disease	Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]
P35557	HXK4_HUMAN	119	A	D	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	16	V	E	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	228	T	M	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	19	I	N	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	107	M	T	Polymorphism	-
P35557	HXK4_HUMAN	257	W	R	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	434	C	F	Unclassified	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	202	M	T	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	210	M	T	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	261	G	R	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	68	G	D	Unclassified	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	187	D	Y	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	217	D	N	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	137	H	R	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	168	T	P	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	191	R	W	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	248	E	K	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	182	V	L	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	225	I	M	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	152	F	L	Unclassified	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	336	S	L	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	116	T	P	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	77	L	P	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	99	W	C	Disease	Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]
P35557	HXK4_HUMAN	261	G	R	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	70	E	K	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	342	T	P	Polymorphism	-
P35557	HXK4_HUMAN	315	L	F	Unclassified	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	384	A	T	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	447	R	Q	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	164	L	P	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	214	Y	C	Disease	Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]
P35557	HXK4_HUMAN	308	R	W	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	261	G	E	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	80	G	D	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	382	C	Y	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	223	G	S	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	385	G	V	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	43	R	S	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	169	K	R	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	213	C	R	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	200	V	L	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	210	M	K	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	202	M	R	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	80	G	S	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	367	V	M	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	82	T	I	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	131	S	P	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	256	E	K	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	80	G	A	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	209	T	M	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	43	R	C	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	91	V	L	Disease	Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]
P35557	HXK4_HUMAN	206	T	M	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	265	E	K	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	383	S	L	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	210	M	K	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	397	R	L	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	36	R	W	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	414	K	E	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	203	V	A	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	226	V	M	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	228	T	M	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	110	I	T	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	160	D	N	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	40	E	K	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	392	R	C	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	259	A	T	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	164	L	P	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	227	G	S	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	455	V	M	Disease	Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]
P35557	HXK4_HUMAN	151	S	T	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	279	E	Q	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	150	F	S	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	50	H	D	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	188	A	T	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	61	Y	S	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	43	R	H	Unclassified	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	129	C	Y	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	377	R	H	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	252	C	G	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	233	C	R	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	300	E	Q	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	168	T	A	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	108	Y	H	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	221	E	K	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	309	L	P	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	72	G	R	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	72	G	R	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	393	M	T	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	20	L	P	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	188	A	V	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	411	S	F	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	299	G	R	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	224	M	R	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	231	N	H	Unclassified	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	255	T	A	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	44	G	S	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	4	D	N	Polymorphism	-
P35557	HXK4_HUMAN	227	G	C	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	416	H	P	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	53	A	S	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	298	M	K	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	300	E	K	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	11	A	T	Polymorphism	-
P35557	HXK4_HUMAN	175	G	R	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	182	V	M	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	456	A	V	Disease	Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]
P35557	HXK4_HUMAN	378	A	T	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	441	S	L	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	379	A	V	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557	HXK4_HUMAN	449	A	T	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P35557	HXK4_HUMAN	420	K	E	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35558	PCKGC_HUMAN	276	E	K	Polymorphism	-
P35558	PCKGC_HUMAN	309	G	R	Unclassified	Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCKDC) [MIM:261680]
P35558	PCKGC_HUMAN	45	I	T	Disease	Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCKDC) [MIM:261680]
P35558	PCKGC_HUMAN	55	R	Q	Polymorphism	-
P35558	PCKGC_HUMAN	267	I	V	Polymorphism	-
P35558	PCKGC_HUMAN	138	T	I	Polymorphism	-
P35558	PCKGC_HUMAN	60	M	T	Polymorphism	-
P35558	PCKGC_HUMAN	427	P	S	Polymorphism	-
P35558	PCKGC_HUMAN	184	V	L	Polymorphism	-
P35558	PCKGC_HUMAN	368	V	I	Polymorphism	-
P35558	PCKGC_HUMAN	586	E	D	Polymorphism	-
P35568	IRS1_HUMAN	608	T	R	Polymorphism	-
P35568	IRS1_HUMAN	1137	D	N	Polymorphism	-
P35568	IRS1_HUMAN	158	P	R	Polymorphism	-
P35568	IRS1_HUMAN	892	S	G	Polymorphism	-
P35568	IRS1_HUMAN	209	M	T	Polymorphism	-
P35568	IRS1_HUMAN	512	A	P	Polymorphism	-
P35568	IRS1_HUMAN	971	G	R	Polymorphism	-
P35568	IRS1_HUMAN	1095	C	Y	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P35568	IRS1_HUMAN	1043	S	Y	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P35568	IRS1_HUMAN	809	S	F	Polymorphism	-
P35573	GDE_HUMAN	38	T	A	Polymorphism	-
P35573	GDE_HUMAN	1343	E	K	Polymorphism	-
P35573	GDE_HUMAN	1253	R	H	Polymorphism	-
P35573	GDE_HUMAN	701	A	S	Polymorphism	-
P35573	GDE_HUMAN	229	Q	R	Polymorphism	-
P35573	GDE_HUMAN	1448	G	R	Disease	Glycogen storage disease 3 (GSD3) [MIM:232400]
P35573	GDE_HUMAN	962	S	C	Polymorphism	-
P35573	GDE_HUMAN	1144	I	N	Polymorphism	-
P35573	GDE_HUMAN	1207	A	T	Polymorphism	-
P35573	GDE_HUMAN	387	R	Q	Polymorphism	-
P35573	GDE_HUMAN	1487	R	G	Polymorphism	-
P35573	GDE_HUMAN	1115	G	R	Polymorphism	-
P35573	GDE_HUMAN	1067	P	S	Polymorphism	-
P35575	G6PC_HUMAN	124	A	T	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	341	I	N	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	20	Q	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	83	R	I	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	295	R	C	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	338	V	F	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	184	G	V	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	236	W	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	54	Q	P	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	111	T	I	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	266	G	V	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	222	G	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	83	R	H	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	16	T	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	110	E	K	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	116	P	L	Unclassified	A breast cancer sample
P35575	G6PC_HUMAN	209	Y	C	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	184	G	E	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	156	W	L	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	65	A	P	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	166	V	G	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	81	G	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	188	G	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	188	G	D	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	270	G	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	322	F	L	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	241	A	T	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	211	L	P	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	68	G	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	16	T	A	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	255	T	I	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	5	M	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	179	H	P	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	113	P	L	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	76	K	N	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	178	P	S	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	122	G	D	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	177	F	C	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	270	G	W	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	265	L	P	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	270	G	V	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	119	H	L	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	170	R	Q	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	63	W	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	108	T	I	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	83	R	C	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	257	P	L	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	38	D	V	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	166	V	A	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	178	P	A	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	345	L	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	298	S	P	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	77	W	R	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	188	G	S	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35575	G6PC_HUMAN	264	N	K	Disease	Glycogen storage disease 1A (GSD1A) [MIM:232200]
P35579	MYH9_HUMAN	810	K	N	Unclassified	A breast cancer sample
P35579	MYH9_HUMAN	1626	I	V	Polymorphism	-
P35579	MYH9_HUMAN	1424	D	Y	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	1816	I	V	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	1155	T	I	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	1400	R	W	Unclassified	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	95	A	T	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	1165	R	L	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	1424	D	H	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	93	N	K	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	96	S	L	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	373	K	N	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	1114	S	P	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	1841	E	K	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	705	R	H	Disease	Deafness, autosomal dominant, 17 (DFNA17) [MIM:603622]
P35579	MYH9_HUMAN	910	K	Q	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	1165	R	C	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	702	R	H	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	967	V	E	Polymorphism	-
P35579	MYH9_HUMAN	702	R	C	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35579	MYH9_HUMAN	1424	D	N	Disease	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]
P35580	MYH10_HUMAN	270	R	C	Disease	-
P35590	TIE1_HUMAN	1109	R	H	Polymorphism	-
P35590	TIE1_HUMAN	448	V	M	Polymorphism	-
P35590	TIE1_HUMAN	1104	A	V	Polymorphism	-
P35606	COPB2_HUMAN	254	R	C	Unclassified	Microcephaly 19, primary, autosomal recessive (MCPH19) [MIM:617800]
P35609	ACTN2_HUMAN	9	Q	R	Disease	Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158]
P35609	ACTN2_HUMAN	119	A	T	Disease	Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158]
P35609	ACTN2_HUMAN	119	A	T	Disease	Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
P35609	ACTN2_HUMAN	228	M	T	Disease	Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
P35609	ACTN2_HUMAN	628	E	G	Disease	Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
P35609	ACTN2_HUMAN	495	T	M	Disease	Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
P35609	ACTN2_HUMAN	604	M	V	Polymorphism	-
P35609	ACTN2_HUMAN	583	E	A	Disease	Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
P35610	SOAT1_HUMAN	526	Q	R	Polymorphism	-
P35611	ADDA_HUMAN	6	R	C	Polymorphism	-
P35611	ADDA_HUMAN	460	G	W	Polymorphism	-
P35611	ADDA_HUMAN	510	N	I	Polymorphism	-
P35611	ADDA_HUMAN	586	S	C	Polymorphism	-
P35611	ADDA_HUMAN	270	Y	N	Polymorphism	-
P35611	ADDA_HUMAN	376	E	D	Polymorphism	-
P35612	ADDB_HUMAN	335	E	D	Polymorphism	-
P35612	ADDB_HUMAN	98	S	C	Polymorphism	-
P35612	ADDB_HUMAN	439	T	A	Polymorphism	-
P35612	ADDB_HUMAN	28	D	N	Polymorphism	-
P35612	ADDB_HUMAN	663	S	R	Polymorphism	-
P35613	BASI_HUMAN	208	E	K	Polymorphism	-
P35613	BASI_HUMAN	269	G	V	Polymorphism	-
P35625	TIMP3_HUMAN	190	G	C	Disease	Sorsby fundus dystrophy (SFD) [MIM:136900]
P35625	TIMP3_HUMAN	191	Y	C	Disease	Sorsby fundus dystrophy (SFD) [MIM:136900]
P35625	TIMP3_HUMAN	189	G	C	Disease	Sorsby fundus dystrophy (SFD) [MIM:136900]
P35625	TIMP3_HUMAN	179	S	C	Disease	Sorsby fundus dystrophy (SFD) [MIM:136900]
P35625	TIMP3_HUMAN	204	S	C	Disease	Sorsby fundus dystrophy (SFD) [MIM:136900]
P35626	ARBK2_HUMAN	50	R	S	Polymorphism	-
P35626	ARBK2_HUMAN	104	R	K	Unclassified	A lung bronchoalveolar carcinoma sample
P35626	ARBK2_HUMAN	60	N	S	Polymorphism	-
P35626	ARBK2_HUMAN	409	V	M	Polymorphism	-
P35637	FUS_HUMAN	524	R	S	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	230	G	C	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	517	H	Q	Polymorphism	-
P35637	FUS_HUMAN	521	R	H	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	518	R	K	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	254	M	V	Polymorphism	-
P35637	FUS_HUMAN	525	P	L	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	514	R	G	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	521	R	C	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	191	G	S	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	234	R	C	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	521	R	G	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	524	R	T	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	522	R	G	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	431	P	L	Disease	Tremor, hereditary essential 4 (ETM4) [MIM:614782]
P35637	FUS_HUMAN	514	R	S	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	216	R	C	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	515	G	C	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	312	K	Q	Unclassified	A breast cancer sample
P35637	FUS_HUMAN	507	G	D	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	216	R	C	Disease	Tremor, hereditary essential 4 (ETM4) [MIM:614782]
P35637	FUS_HUMAN	244	R	C	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35637	FUS_HUMAN	225	G	V	Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]
P35638	DDIT3_HUMAN	115	A	V	Unclassified	A colorectal cancer sample
P35658	NU214_HUMAN	1592	G	A	Polymorphism	-
P35658	NU214_HUMAN	1378	P	L	Unclassified	A breast cancer sample
P35658	NU214_HUMAN	424	G	A	Unclassified	A breast cancer sample
P35658	NU214_HUMAN	1392	A	V	Unclassified	A breast cancer sample
P35658	NU214_HUMAN	574	P	S	Polymorphism	-
P35659	DEK_HUMAN	140	V	A	Polymorphism	-
P35663	CYLC1_HUMAN	399	D	H	Polymorphism	-
P35670	ATP7B_HUMAN	1089	G	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1250	A	G	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	869	G	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1239	V	G	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1083	L	F	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1273	P	L	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1069	H	Q	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1140	V	A	Polymorphism	-
P35670	ATP7B_HUMAN	990	A	P	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1298	V	I	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	744	S	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	921	S	R	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1033	T	A	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1064	E	A	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	591	G	S	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1070	P	S	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1310	S	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	918	D	N	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1341	G	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1089	G	E	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	858	T	A	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1220	T	M	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1102	I	T	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	149	V	L	Polymorphism	-
P35670	ATP7B_HUMAN	1288	T	M	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1035	G	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1222	D	Y	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1228	R	T	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1216	V	M	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	486	A	S	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1266	G	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1245	P	T	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1036	V	I	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1270	N	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1369	S	L	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	969	R	W	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1052	P	L	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	825	V	L	Polymorphism	-
P35670	ATP7B_HUMAN	899	I	F	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1101	G	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1109	V	M	Polymorphism	-
P35670	ATP7B_HUMAN	1279	D	Y	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1379	P	S	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	795	L	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1278	A	V	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1331	Y	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	765	D	H	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	710	G	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1178	T	A	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	466	L	V	Polymorphism	-
P35670	ATP7B_HUMAN	446	V	L	Polymorphism	-
P35670	ATP7B_HUMAN	591	G	D	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1012	G	R	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	982	A	V	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1267	D	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1267	D	A	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1230	I	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1296	D	N	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1151	R	C	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1064	E	K	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1063	A	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1104	C	F	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1061	G	E	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1328	A	T	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1012	G	V	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1322	R	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	723	R	G	Polymorphism	-
P35670	ATP7B_HUMAN	1341	G	D	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1041	R	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1173	E	K	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	985	C	Y	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1287	G	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1332	N	K	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1068	E	G	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	639	H	Y	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	456	V	L	Polymorphism	-
P35670	ATP7B_HUMAN	919	R	G	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1359	M	I	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	390	I	V	Polymorphism	-
P35670	ATP7B_HUMAN	1358	A	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1058	A	V	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	616	R	Q	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	711	G	W	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	974	T	M	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	769	M	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1341	G	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1252	V	I	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1222	D	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1151	R	H	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	492	L	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	665	M	I	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	987	L	P	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1262	V	F	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1213	G	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	710	G	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1021	I	V	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1003	A	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1375	C	S	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	778	R	L	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1168	A	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	857	I	T	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	875	G	R	Polymorphism	-
P35670	ATP7B_HUMAN	1202	A	G	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1091	C	Y	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	85	G	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	626	G	A	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	732	L	H	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	711	G	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	971	A	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	536	V	A	Polymorphism	-
P35670	ATP7B_HUMAN	1095	Q	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1407	D	E	Polymorphism	-
P35670	ATP7B_HUMAN	745	L	P	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1098	P	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	148	R	W	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1010	K	E	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	532	Y	H	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1268	G	R	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1018	A	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1173	E	G	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1149	G	E	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1355	G	C	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1336	I	T	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1004	Q	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1332	N	D	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	657	S	R	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1010	K	R	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	943	G	D	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1266	G	E	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	565	N	S	Polymorphism	-
P35670	ATP7B_HUMAN	691	G	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	96	G	D	Polymorphism	-
P35670	ATP7B_HUMAN	1281	G	D	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	645	M	R	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1031	T	I	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	710	G	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1169	M	T	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1256	Q	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	382	S	C	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1248	K	N	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1017	M	I	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	921	S	N	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1207	H	R	Polymorphism	-
P35670	ATP7B_HUMAN	549	L	P	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	980	C	Y	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	732	L	P	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1222	D	N	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1368	L	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1136	E	K	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1164	D	N	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1243	V	L	Polymorphism	-
P35670	ATP7B_HUMAN	1352	P	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	778	R	G	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1245	P	S	Polymorphism	-
P35670	ATP7B_HUMAN	778	R	Q	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1111	G	D	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	982	A	T	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	836	G	E	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1043	L	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1104	C	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	939	W	C	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1434	T	M	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	290	V	L	Polymorphism	-
P35670	ATP7B_HUMAN	769	M	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	170	G	V	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1149	G	A	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	778	R	W	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	969	R	Q	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	614	G	C	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	827	R	P	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	890	V	M	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	642	D	H	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	710	G	A	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	406	S	A	Polymorphism	-
P35670	ATP7B_HUMAN	1153	W	C	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	765	D	N	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1297	V	I	Polymorphism	-
P35670	ATP7B_HUMAN	1305	L	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	874	A	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1271	D	N	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	840	P	L	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1094	F	L	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	952	R	K	Polymorphism	-
P35670	ATP7B_HUMAN	1295	A	D	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	929	I	V	Polymorphism	-
P35670	ATP7B_HUMAN	1353	W	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1355	G	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1432	S	F	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1327	L	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	641	L	S	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	708	L	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1255	L	I	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	747	I	F	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1373	L	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	136	R	W	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	832	K	R	Polymorphism	-
P35670	ATP7B_HUMAN	975	S	Y	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1232	T	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1074	A	V	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	967	I	F	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	988	G	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	157	C	F	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1029	T	I	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1293	E	K	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	690	P	L	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1279	D	G	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	713	Y	C	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1298	V	L	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	995	V	A	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	936	L	V	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	788	T	I	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	108	C	R	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1113	L	M	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	44	Y	N	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	703	C	Y	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	616	R	W	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1186	G	S	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1000	G	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1221	G	E	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1099	G	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1041	R	W	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	541	E	K	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1431	S	Y	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1363	S	F	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	898	Q	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	769	M	I	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	737	T	R	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	741	Y	C	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	891	G	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1065	A	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	721	S	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	992	P	H	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	827	R	W	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	992	P	L	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	943	G	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	597	V	I	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	864	V	I	Polymorphism	-
P35670	ATP7B_HUMAN	1024	V	A	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	935	T	M	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	977	T	M	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1169	M	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	765	D	G	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	693	S	C	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1033	T	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	768	P	H	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	991	T	M	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1153	W	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	891	G	D	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1347	G	S	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	919	R	W	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	933	T	P	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1010	K	T	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	998	G	D	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	606	V	G	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	918	D	E	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	729	M	V	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1266	G	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1104	C	Y	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1142	Q	H	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1373	L	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	816	R	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	869	G	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	795	L	F	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1031	T	A	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	760	P	L	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	14	A	D	Polymorphism	-
P35670	ATP7B_HUMAN	949	V	G	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1176	G	E	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	996	M	T	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1176	G	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1186	G	C	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	779	W	G	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	41	N	S	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	731	V	A	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1003	A	T	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1038	R	K	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	776	L	V	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1143	T	N	Polymorphism	-
P35670	ATP7B_HUMAN	539	P	L	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	943	G	C	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	874	A	P	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1183	A	G	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	756	A	G	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	711	G	E	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1183	A	T	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1341	G	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1148	I	T	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	604	A	P	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	766	T	R	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1146	V	M	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	653	S	Y	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	776	L	P	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1106	V	I	Unclassified	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	875	G	V	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	766	T	M	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	1106	V	D	Disease	Wilson disease (WD) [MIM:277900]
P35670	ATP7B_HUMAN	861	A	T	Disease	Wilson disease (WD) [MIM:277900]
P35680	HNF1B_HUMAN	151	S	P	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	295	R	H	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	260	E	D	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	148	S	W	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	276	R	G	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	148	S	L	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	112	R	P	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	465	S	R	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P35680	HNF1B_HUMAN	110	V	G	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	285	G	D	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	136	Q	E	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	492	G	S	Unclassified	-
P35680	HNF1B_HUMAN	153	H	N	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	76	G	C	Unclassified	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	370	G	S	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	156	K	E	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	61	V	G	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	276	R	Q	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	165	R	H	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	241	A	T	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	235	R	Q	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	164	K	Q	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	295	R	C	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	295	R	P	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35680	HNF1B_HUMAN	36	S	F	Disease	Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
P35711	SOX5_HUMAN	362	Q	P	Polymorphism	-
P35713	SOX18_HUMAN	95	W	R	Disease	Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]
P35713	SOX18_HUMAN	104	A	P	Disease	Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]
P35716	SOX11_HUMAN	60	S	P	Disease	Mental retardation, autosomal dominant 27 (MRD27) [MIM:615866]
P35716	SOX11_HUMAN	116	Y	C	Disease	Mental retardation, autosomal dominant 27 (MRD27) [MIM:615866]
P35749	MYH11_HUMAN	1758	R	Q	Disease	Aortic aneurysm, familial thoracic 4 (AAT4) [MIM:132900]
P35749	MYH11_HUMAN	1289	V	A	Polymorphism	-
P35749	MYH11_HUMAN	1104	A	T	Polymorphism	-
P35749	MYH11_HUMAN	1508	M	V	Polymorphism	-
P35749	MYH11_HUMAN	1234	A	T	Polymorphism	-
P35749	MYH11_HUMAN	1310	V	M	Polymorphism	-
P35754	GLRX1_HUMAN	47	D	Y	Polymorphism	-
P35789	ZNF93_HUMAN	93	D	Y	Polymorphism	-
P35790	CHKA_HUMAN	220	S	G	Polymorphism	-
P35790	CHKA_HUMAN	422	L	Q	Polymorphism	-
P35858	ALS_HUMAN	97	L	F	Polymorphism	-
P35858	ALS_HUMAN	307	P	L	Polymorphism	-
P35858	ALS_HUMAN	548	R	W	Polymorphism	-
P35858	ALS_HUMAN	134	L	Q	Disease	Acid-labile subunit deficiency (ACLSD) [MIM:615961]
P35858	ALS_HUMAN	498	P	S	Polymorphism	-
P35858	ALS_HUMAN	244	L	F	Disease	Acid-labile subunit deficiency (ACLSD) [MIM:615961]
P35858	ALS_HUMAN	60	C	S	Disease	Acid-labile subunit deficiency (ACLSD) [MIM:615961]
P35858	ALS_HUMAN	73	P	L	Disease	Acid-labile subunit deficiency (ACLSD) [MIM:615961]
P35858	ALS_HUMAN	127	L	P	Disease	Acid-labile subunit deficiency (ACLSD) [MIM:615961]
P35858	ALS_HUMAN	540	C	R	Disease	Acid-labile subunit deficiency (ACLSD) [MIM:615961]
P35858	ALS_HUMAN	440	D	N	Disease	Acid-labile subunit deficiency (ACLSD) [MIM:615961]
P35858	ALS_HUMAN	276	N	S	Disease	Acid-labile subunit deficiency (ACLSD) [MIM:615961]
P35869	AHR_HUMAN	786	M	V	Polymorphism	-
P35869	AHR_HUMAN	554	R	K	Polymorphism	-
P35869	AHR_HUMAN	517	P	S	Polymorphism	-
P35869	AHR_HUMAN	570	V	I	Polymorphism	-
P35900	K1C20_HUMAN	4	S	R	Unclassified	A colorectal cancer sample
P35900	K1C20_HUMAN	129	S	N	Polymorphism	-
P35900	K1C20_HUMAN	214	G	C	Unclassified	-
P35908	K22E_HUMAN	487	E	D	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	219	G	D	Polymorphism	-
P35908	K22E_HUMAN	484	L	P	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	479	T	P	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	487	E	K	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	186	N	Y	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	476	E	K	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	186	N	K	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	477	I	N	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	101	S	G	Polymorphism	-
P35908	K22E_HUMAN	488	E	K	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	465	E	K	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	186	N	D	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	476	E	V	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	182	I	N	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	465	E	D	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908	K22E_HUMAN	181	Q	P	Disease	Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35913	PDE6B_HUMAN	258	H	N	Disease	Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2) [MIM:163500]
P35913	PDE6B_HUMAN	527	L	P	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913	PDE6B_HUMAN	228	L	I	Polymorphism	-
P35913	PDE6B_HUMAN	576	G	D	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913	PDE6B_HUMAN	74	R	C	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913	PDE6B_HUMAN	320	V	I	Polymorphism	-
P35913	PDE6B_HUMAN	654	E	D	Polymorphism	-
P35913	PDE6B_HUMAN	228	L	H	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913	PDE6B_HUMAN	776	D	N	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913	PDE6B_HUMAN	212	Y	H	Polymorphism	-
P35913	PDE6B_HUMAN	557	H	Y	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913	PDE6B_HUMAN	100	R	H	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913	PDE6B_HUMAN	552	R	Q	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913	PDE6B_HUMAN	219	Y	H	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913	PDE6B_HUMAN	166	E	K	Polymorphism	-
P35913	PDE6B_HUMAN	854	L	R	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913	PDE6B_HUMAN	535	I	N	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913	PDE6B_HUMAN	699	L	R	Disease	Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35914	HMGCL_HUMAN	75	S	R	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	192	F	S	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	174	C	Y	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	42	D	H	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	279	E	K	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	42	D	G	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	48	K	N	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	233	H	R	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	204	D	N	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	37	E	K	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	200	I	F	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	142	S	F	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	41	R	Q	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	70	V	L	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	42	D	E	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	165	R	Q	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	201	S	Y	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	263	L	P	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35914	HMGCL_HUMAN	203	G	E	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P35916	VGFR3_HUMAN	878	V	M	Disease	Lymphatic malformation 1 (LMPHM1) [MIM:153100]
P35916	VGFR3_HUMAN	855	A	T	Disease	Lymphatic malformation 1 (LMPHM1) [MIM:153100]
P35916	VGFR3_HUMAN	890	H	Q	Polymorphism	-
P35916	VGFR3_HUMAN	641	P	S	Polymorphism	-
P35916	VGFR3_HUMAN	857	G	R	Disease	Lymphatic malformation 1 (LMPHM1) [MIM:153100]
P35916	VGFR3_HUMAN	954	P	S	Disease	Hemangioma, capillary infantile (HCI) [MIM:602089]
P35916	VGFR3_HUMAN	1020	Q	L	Disease	Lymphatic malformation 1 (LMPHM1) [MIM:153100]
P35916	VGFR3_HUMAN	1075	R	Q	Polymorphism	-
P35916	VGFR3_HUMAN	1031	R	Q	Polymorphism	-
P35916	VGFR3_HUMAN	494	T	A	Polymorphism	-
P35916	VGFR3_HUMAN	527	N	S	Polymorphism	-
P35916	VGFR3_HUMAN	1010	T	I	Unclassified	A metastatic melanoma sample
P35916	VGFR3_HUMAN	1035	H	Q	Disease	-
P35916	VGFR3_HUMAN	1146	R	H	Polymorphism	-
P35916	VGFR3_HUMAN	1106	E	K	Disease	Lymphatic malformation 1 (LMPHM1) [MIM:153100]
P35916	VGFR3_HUMAN	1235	S	C	Disease	Lymphatic malformation 1 (LMPHM1) [MIM:153100]
P35916	VGFR3_HUMAN	1137	P	S	Disease	Hemangioma, capillary infantile (HCI) [MIM:602089]
P35916	VGFR3_HUMAN	868	H	Y	Polymorphism	-
P35916	VGFR3_HUMAN	1049	D	N	Polymorphism	-
P35916	VGFR3_HUMAN	149	N	D	Polymorphism	-
P35916	VGFR3_HUMAN	1035	H	R	Disease	Lymphatic malformation 1 (LMPHM1) [MIM:153100]
P35916	VGFR3_HUMAN	1041	R	P	Disease	Lymphatic malformation 1 (LMPHM1) [MIM:153100]
P35916	VGFR3_HUMAN	1114	P	L	Disease	Lymphatic malformation 1 (LMPHM1) [MIM:153100]
P35916	VGFR3_HUMAN	1044	L	P	Disease	Lymphatic malformation 1 (LMPHM1) [MIM:153100]
P35916	VGFR3_HUMAN	378	R	C	Unclassified	A renal clear cell carcinoma sample
P35916	VGFR3_HUMAN	1086	I	T	Disease	Lymphatic malformation 1 (LMPHM1) [MIM:153100]
P35968	VGFR2_HUMAN	952	V	I	Polymorphism	-
P35968	VGFR2_HUMAN	539	G	R	Polymorphism	-
P35968	VGFR2_HUMAN	814	D	N	Polymorphism	-
P35968	VGFR2_HUMAN	1065	A	T	Polymorphism	-
P35968	VGFR2_HUMAN	689	T	M	Polymorphism	-
P35968	VGFR2_HUMAN	2	Q	R	Unclassified	A lung adenocarcinoma sample
P35968	VGFR2_HUMAN	136	V	M	Polymorphism	-
P35968	VGFR2_HUMAN	482	C	R	Disease	Hemangioma, capillary infantile (HCI) [MIM:602089]
P35968	VGFR2_HUMAN	472	Q	H	Polymorphism	-
P35968	VGFR2_HUMAN	248	A	G	Unclassified	A renal clear cell carcinoma sample
P35968	VGFR2_HUMAN	873	G	R	Unclassified	A colorectal cancer sample
P35968	VGFR2_HUMAN	297	V	I	Polymorphism	-
P35968	VGFR2_HUMAN	462	L	V	Polymorphism	-
P35968	VGFR2_HUMAN	848	V	E	Polymorphism	-
P35968	VGFR2_HUMAN	275	R	L	Unclassified	A colorectal cancer sample
P35968	VGFR2_HUMAN	1147	P	S	Disease	Hemangioma, capillary infantile (HCI) [MIM:602089]
P36021	MOT8_HUMAN	120	S	F	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	490	G	E	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	147	G	R	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	323	I	L	Polymorphism	-
P36021	MOT8_HUMAN	217	L	R	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	397	L	P	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	197	R	H	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	463	P	L	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	150	A	V	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	216	S	F	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	371	R	C	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	484	G	D	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	360	L	W	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	490	G	R	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	150	A	T	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	494	L	P	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	438	L	P	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	379	D	V	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	247	P	L	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	208	G	C	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36021	MOT8_HUMAN	161	V	M	Disease	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
P36222	CH3L1_HUMAN	145	R	G	Polymorphism	-
P36222	CH3L1_HUMAN	311	I	T	Polymorphism	-
P36269	GGT5_HUMAN	475	I	V	Polymorphism	-
P36269	GGT5_HUMAN	332	Q	H	Polymorphism	-
P36269	GGT5_HUMAN	330	K	R	Polymorphism	-
P36269	GGT5_HUMAN	11	L	I	Polymorphism	-
P36382	CXA5_HUMAN	229	L	M	Disease	Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]
P36382	CXA5_HUMAN	96	A	S	Disease	Atrial standstill 1 (ATRST1) [MIM:108770]
P36382	CXA5_HUMAN	85	V	I	Disease	Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]
P36382	CXA5_HUMAN	221	L	I	Disease	Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]
P36382	CXA5_HUMAN	88	P	S	Disease	Atrial standstill 1 (ATRST1) [MIM:108770]
P36404	ARL2_HUMAN	141	V	A	Polymorphism	-
P36405	ARL3_HUMAN	149	R	C	Disease	Joubert syndrome 35 (JBTS35) [MIM:618161]
P36405	ARL3_HUMAN	34	L	M	Polymorphism	-
P36405	ARL3_HUMAN	149	R	H	Disease	Joubert syndrome 35 (JBTS35) [MIM:618161]
P36405	ARL3_HUMAN	90	Y	C	Unclassified	Retinitis pigmentosa 83 (RP83) [MIM:618173]
P36406	TRI23_HUMAN	480	D	N	Polymorphism	-
P36507	MP2K2_HUMAN	57	F	V	Disease	Cardiofaciocutaneous syndrome 4 (CFC4) [MIM:615280]
P36507	MP2K2_HUMAN	134	Y	H	Disease	Cardiofaciocutaneous syndrome 4 (CFC4) [MIM:615280]
P36507	MP2K2_HUMAN	57	F	C	Disease	Cardiofaciocutaneous syndrome 4 (CFC4) [MIM:615280]
P36507	MP2K2_HUMAN	128	P	Q	Disease	Cardiofaciocutaneous syndrome 4 (CFC4) [MIM:615280]
P36508	ZNF76_HUMAN	272	R	C	Polymorphism	-
P36508	ZNF76_HUMAN	48	T	M	Polymorphism	-
P36508	ZNF76_HUMAN	403	R	Q	Polymorphism	-
P36543	VATE1_HUMAN	128	L	P	Disease	Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402]
P36543	VATE1_HUMAN	212	R	W	Disease	Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402]
P36543	VATE1_HUMAN	50	R	G	Unclassified	A colorectal cancer sample
P36551	HEM6_HUMAN	294	V	I	Polymorphism	-
P36551	HEM6_HUMAN	279	G	R	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	331	R	W	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	249	P	S	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	427	W	R	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	447	R	C	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	189	G	S	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	249	P	R	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	280	G	R	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	404	K	E	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	208	S	F	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	272	N	H	Polymorphism	-
P36551	HEM6_HUMAN	135	V	A	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	352	R	C	Polymorphism	-
P36551	HEM6_HUMAN	201	E	K	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	214	L	R	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	197	G	W	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	328	R	C	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36551	HEM6_HUMAN	295	H	D	Disease	Hereditary coproporphyria (HCP) [MIM:121300]
P36575	ARRC_HUMAN	44	L	F	Polymorphism	-
P36575	ARRC_HUMAN	298	A	D	Unclassified	Myopia 26, X-linked, female-limited (MYP26) [MIM:301010]
P36575	ARRC_HUMAN	80	L	P	Unclassified	Myopia 26, X-linked, female-limited (MYP26) [MIM:301010]
P36639	8ODP_HUMAN	124	V	M	Polymorphism	-
P36639	8ODP_HUMAN	77	G	W	Polymorphism	-
P36776	LONM_HUMAN	476	E	A	Disease	CODAS syndrome (CODASS) [MIM:600373]
P36776	LONM_HUMAN	724	A	V	Disease	CODAS syndrome (CODASS) [MIM:600373]
P36776	LONM_HUMAN	679	R	H	Disease	CODAS syndrome (CODASS) [MIM:600373]
P36776	LONM_HUMAN	672	R	C	Disease	CODAS syndrome (CODASS) [MIM:600373]
P36776	LONM_HUMAN	87	E	D	Polymorphism	-
P36776	LONM_HUMAN	241	R	Q	Polymorphism	-
P36776	LONM_HUMAN	749	P	S	Disease	CODAS syndrome (CODASS) [MIM:600373]
P36776	LONM_HUMAN	631	S	Y	Disease	CODAS syndrome (CODASS) [MIM:600373]
P36776	LONM_HUMAN	767	G	E	Disease	CODAS syndrome (CODASS) [MIM:600373]
P36776	LONM_HUMAN	721	R	G	Disease	CODAS syndrome (CODASS) [MIM:600373]
P36776	LONM_HUMAN	911	V	I	Polymorphism	-
P36776	LONM_HUMAN	676	P	S	Disease	CODAS syndrome (CODASS) [MIM:600373]
P36776	LONM_HUMAN	670	A	V	Disease	CODAS syndrome (CODASS) [MIM:600373]
P36776	LONM_HUMAN	829	A	T	Polymorphism	-
P36871	PGM1_HUMAN	377	E	K	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	62	D	H	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	291	G	R	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	516	L	P	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	420	Y	H	Polymorphism	-
P36871	PGM1_HUMAN	263	D	Y	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	263	D	G	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	38	N	Y	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	388	E	K	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	19	T	A	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	88	I	V	Polymorphism	-
P36871	PGM1_HUMAN	330	G	R	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	41	Q	R	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	115	T	A	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871	PGM1_HUMAN	501	V	I	Polymorphism	-
P36871	PGM1_HUMAN	68	K	M	Polymorphism	-
P36871	PGM1_HUMAN	221	R	C	Polymorphism	-
P36871	PGM1_HUMAN	121	G	R	Disease	Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36873	PP1G_HUMAN	152	F	S	Polymorphism	-
P36888	FLT3_HUMAN	835	D	E	Unclassified	Acute lymphoblastic leukemia patients
P36888	FLT3_HUMAN	7	D	G	Polymorphism	-
P36888	FLT3_HUMAN	835	D	Y	Unclassified	Acute lymphoblastic leukemia patients
P36888	FLT3_HUMAN	324	D	N	Polymorphism	-
P36888	FLT3_HUMAN	417	I	L	Polymorphism	-
P36888	FLT3_HUMAN	227	T	M	Polymorphism	-
P36888	FLT3_HUMAN	358	D	V	Polymorphism	-
P36888	FLT3_HUMAN	835	D	E	Unclassified	Acute myelogenous leukemia patients
P36888	FLT3_HUMAN	835	D	V	Unclassified	Acute lymphoblastic leukemia patients
P36888	FLT3_HUMAN	194	V	M	Polymorphism	-
P36888	FLT3_HUMAN	835	D	V	Unclassified	In acute myelogenous leukemia patients
P36888	FLT3_HUMAN	836	I	M	Unclassified	Acute lymphoblastic leukemia patients
P36888	FLT3_HUMAN	158	V	A	Polymorphism	-
P36888	FLT3_HUMAN	557	V	I	Polymorphism	-
P36888	FLT3_HUMAN	835	D	N	Unclassified	In acute myelogenous leukemia patients
P36888	FLT3_HUMAN	835	D	H	Unclassified	Acute lymphoblastic leukemia patients
P36888	FLT3_HUMAN	835	D	N	Unclassified	Acute lymphoblastic leukemia patients
P36888	FLT3_HUMAN	835	D	Y	Unclassified	In acute myelogenous leukemia patients
P36888	FLT3_HUMAN	835	D	H	Unclassified	In acute myelogenous leukemia patients
P36894	BMR1A_HUMAN	338	A	D	Disease	Juvenile polyposis syndrome (JPS) [MIM:174900]
P36894	BMR1A_HUMAN	58	F	Y	Unclassified	A renal clear cell carcinoma sample
P36894	BMR1A_HUMAN	376	C	Y	Disease	Juvenile polyposis syndrome (JPS) [MIM:174900]
P36894	BMR1A_HUMAN	460	M	T	Unclassified	-
P36894	BMR1A_HUMAN	124	C	R	Disease	Juvenile polyposis syndrome (JPS) [MIM:174900]
P36894	BMR1A_HUMAN	486	R	Q	Unclassified	A gastric adenocarcinoma sample
P36894	BMR1A_HUMAN	443	R	C	Disease	Juvenile polyposis syndrome (JPS) [MIM:174900]
P36894	BMR1A_HUMAN	470	M	T	Disease	Juvenile polyposis syndrome (JPS) [MIM:174900]
P36894	BMR1A_HUMAN	130	C	R	Disease	Juvenile polyposis syndrome (JPS) [MIM:174900]
P36894	BMR1A_HUMAN	450	V	M	Polymorphism	-
P36894	BMR1A_HUMAN	82	C	Y	Disease	Juvenile polyposis syndrome (JPS) [MIM:174900]
P36894	BMR1A_HUMAN	2	P	T	Polymorphism	-
P36894	BMR1A_HUMAN	62	Y	D	Disease	Juvenile polyposis syndrome (JPS) [MIM:174900]
P36896	ACV1B_HUMAN	146	F	L	Polymorphism	-
P36896	ACV1B_HUMAN	408	L	V	Polymorphism	-
P36897	TGFR1_HUMAN	291	Y	C	Polymorphism	-
P36897	TGFR1_HUMAN	83	P	L	Disease	Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
P36897	TGFR1_HUMAN	41	C	Y	Disease	Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
P36897	TGFR1_HUMAN	318	M	R	Disease	Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
P36897	TGFR1_HUMAN	351	D	G	Disease	Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
P36897	TGFR1_HUMAN	375	T	R	Disease	Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
P36897	TGFR1_HUMAN	52	G	R	Disease	Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
P36897	TGFR1_HUMAN	153	V	I	Polymorphism	-
P36897	TGFR1_HUMAN	487	R	P	Disease	Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
P36897	TGFR1_HUMAN	139	I	V	Polymorphism	-
P36897	TGFR1_HUMAN	400	D	G	Disease	Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
P36897	TGFR1_HUMAN	267	N	H	Unclassified	-
P36897	TGFR1_HUMAN	266	D	Y	Disease	Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
P36897	TGFR1_HUMAN	232	K	E	Disease	Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
P36897	TGFR1_HUMAN	200	T	I	Disease	Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
P36897	TGFR1_HUMAN	487	R	W	Disease	Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
P36897	TGFR1_HUMAN	487	R	Q	Disease	Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
P36897	TGFR1_HUMAN	45	N	S	Disease	Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
P36897	TGFR1_HUMAN	241	S	L	Disease	Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
P36941	TNR3_HUMAN	274	V	I	Polymorphism	-
P36952	SPB5_HUMAN	319	I	V	Polymorphism	-
P36952	SPB5_HUMAN	176	S	P	Polymorphism	-
P36952	SPB5_HUMAN	187	V	L	Polymorphism	-
P36955	PEDF_HUMAN	72	T	M	Polymorphism	-
P36955	PEDF_HUMAN	132	P	R	Polymorphism	-
P36956	SRBP1_HUMAN	1000	T	A	Polymorphism	-
P36956	SRBP1_HUMAN	834	S	L	Polymorphism	-
P36956	SRBP1_HUMAN	417	V	M	Polymorphism	-
P36956	SRBP1_HUMAN	1008	A	P	Polymorphism	-
P36956	SRBP1_HUMAN	306	N	S	Polymorphism	-
P36956	SRBP1_HUMAN	580	V	M	Polymorphism	-
P36956	SRBP1_HUMAN	309	A	T	Polymorphism	-
P36956	SRBP1_HUMAN	746	R	H	Polymorphism	-
P36957	ODO2_HUMAN	384	P	T	Polymorphism	-
P36957	ODO2_HUMAN	213	P	A	Polymorphism	-
P36959	GMPR1_HUMAN	234	A	T	Polymorphism	-
P36959	GMPR1_HUMAN	256	F	I	Polymorphism	-
P36969	GPX4_HUMAN	120	A	T	Polymorphism	-
P36969	GPX4_HUMAN	2	S	N	Polymorphism	-
P37023	ACVL1_HUMAN	407	E	D	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	479	R	P	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	416	G	S	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	335	N	H	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	344	C	R	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	424	P	R	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	426	Y	C	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	397	D	G	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	66	H	Y	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	344	C	Y	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	433	P	R	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	245	I	V	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	417	I	F	Polymorphism	-
P37023	ACVL1_HUMAN	342	L	P	Polymorphism	-
P37023	ACVL1_HUMAN	347	A	P	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	67	R	Q	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	484	R	W	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	403	L	P	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	378	P	S	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	328	H	Q	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	379	E	K	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	411	R	P	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	313	L	V	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	77	C	F	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	404	V	G	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	38	S	C	Polymorphism	-
P37023	ACVL1_HUMAN	30	P	S	Unclassified	-
P37023	ACVL1_HUMAN	396	T	A	Unclassified	-
P37023	ACVL1_HUMAN	314	H	Y	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	337	L	P	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	48	G	R	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	41	C	Y	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	486	K	E	Unclassified	-
P37023	ACVL1_HUMAN	378	P	L	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	374	R	Q	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	449	P	S	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	211	G	S	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	399	W	S	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	411	R	W	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	50	W	C	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	51	C	Y	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	347	A	D	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	67	R	W	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	211	G	D	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	245	I	N	Polymorphism	-
P37023	ACVL1_HUMAN	111	E	D	Polymorphism	-
P37023	ACVL1_HUMAN	376	M	V	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	46	C	G	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	479	R	L	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	425	F	V	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	217	W	G	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	443	C	Y	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	424	P	T	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	374	R	W	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	52	T	A	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	179	D	A	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	289	L	P	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	215	E	K	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	47	R	P	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	41	C	G	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	379	E	D	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	306	A	P	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	425	F	L	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	176	D	Y	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	34	C	Y	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	400	A	T	Unclassified	-
P37023	ACVL1_HUMAN	69	C	R	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	411	R	Q	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	294	L	R	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	77	C	W	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	333	S	I	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	482	A	V	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	398	I	N	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	96	N	S	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	159	E	V	Unclassified	-
P37023	ACVL1_HUMAN	96	N	D	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	8	K	N	Polymorphism	-
P37023	ACVL1_HUMAN	50	W	G	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	441	V	M	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	285	L	F	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	223	G	R	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	376	M	R	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	59	E	V	Unclassified	-
P37023	ACVL1_HUMAN	226	V	E	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	237	Q	K	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	487	K	T	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	138	L	P	Polymorphism	-
P37023	ACVL1_HUMAN	66	H	P	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	280	H	R	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	265	T	P	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	233	S	L	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	225	S	C	Unclassified	-
P37023	ACVL1_HUMAN	229	K	R	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	197	T	I	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	219	G	D	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023	ACVL1_HUMAN	277	T	K	Unclassified	-
P37023	ACVL1_HUMAN	260	I	L	Disease	Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37058	DHB3_HUMAN	289	G	R	Polymorphism	-
P37058	DHB3_HUMAN	80	R	Q	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	232	S	L	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	289	G	C	Polymorphism	-
P37058	DHB3_HUMAN	215	E	D	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	205	V	E	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	56	A	T	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	268	C	Y	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	133	G	R	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	31	V	I	Polymorphism	-
P37058	DHB3_HUMAN	176	Q	P	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	235	M	V	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	80	R	W	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	130	N	S	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	208	F	I	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	282	P	L	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	203	A	V	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	65	S	L	Disease	Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058	DHB3_HUMAN	289	G	S	Polymorphism	-
P37059	DHB2_HUMAN	121	A	T	Polymorphism	-
P37088	SCNNA_HUMAN	327	G	C	Disease	Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]
P37088	SCNNA_HUMAN	181	R	W	Polymorphism	-
P37088	SCNNA_HUMAN	663	T	A	Polymorphism	-
P37088	SCNNA_HUMAN	479	C	R	Disease	Liddle syndrome 3 (LIDLS3) [MIM:618126]
P37088	SCNNA_HUMAN	114	V	I	Disease	Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021]
P37088	SCNNA_HUMAN	493	W	R	Polymorphism	-
P37088	SCNNA_HUMAN	562	S	L	Disease	Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]
P37088	SCNNA_HUMAN	618	C	F	Polymorphism	-
P37088	SCNNA_HUMAN	402	P	H	Polymorphism	-
P37088	SCNNA_HUMAN	61	F	L	Disease	Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021]
P37088	SCNNA_HUMAN	573	V	I	Polymorphism	-
P37088	SCNNA_HUMAN	334	A	T	Polymorphism	-
P37108	SRP14_HUMAN	68	S	I	Polymorphism	-
P37108	SRP14_HUMAN	51	P	S	Polymorphism	-
P37108	SRP14_HUMAN	124	P	A	Polymorphism	-
P37108	SRP14_HUMAN	125	T	A	Polymorphism	-
P37108	SRP14_HUMAN	130	T	A	Polymorphism	-
P37108	SRP14_HUMAN	127	A	T	Polymorphism	-
P37173	TGFR2_HUMAN	190	R	H	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	357	G	R	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	537	R	C	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	521	W	R	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	325	T	P	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	514	C	R	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	490	N	S	Unclassified	A gastric adenocarcinoma sample
P37173	TGFR2_HUMAN	315	T	M	Disease	Hereditary non-polyposis colorectal cancer 6 (HNPCC6) [MIM:614331]
P37173	TGFR2_HUMAN	530	T	I	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	460	R	H	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	73	I	V	Unclassified	A colorectal cancer sample
P37173	TGFR2_HUMAN	457	M	K	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	435	N	S	Unclassified	A breast tumor
P37173	TGFR2_HUMAN	528	R	C	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	61	C	R	Unclassified	A gastric adenocarcinoma sample
P37173	TGFR2_HUMAN	247	D	V	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	336	Y	N	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	191	V	I	Polymorphism	-
P37173	TGFR2_HUMAN	328	H	Y	Unclassified	A lung neuroendocrine carcinoma sample
P37173	TGFR2_HUMAN	526	E	Q	Disease	Esophageal cancer (ESCR) [MIM:133239]
P37173	TGFR2_HUMAN	377	H	R	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	446	D	N	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	509	G	V	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	449	S	F	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	439	V	A	Polymorphism	-
P37173	TGFR2_HUMAN	510	I	S	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	387	V	M	Unclassified	A breast tumor
P37173	TGFR2_HUMAN	452	L	M	Unclassified	A breast tumor
P37173	TGFR2_HUMAN	373	M	I	Polymorphism	-
P37173	TGFR2_HUMAN	528	R	H	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	460	R	C	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	510	I	F	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	355	A	P	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	357	G	W	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	308	L	P	Disease	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
P37173	TGFR2_HUMAN	36	M	V	Polymorphism	-
P37173	TGFR2_HUMAN	447	V	A	Unclassified	A breast tumor
P37198	NUP62_HUMAN	233	A	S	Polymorphism	-
P37198	NUP62_HUMAN	139	G	S	Polymorphism	-
P37198	NUP62_HUMAN	391	Q	P	Disease	Infantile striatonigral degeneration (SNDI) [MIM:271930]
P37198	NUP62_HUMAN	283	S	T	Polymorphism	-
P37231	PPARG_HUMAN	113	P	Q	Disease	Obesity (OBESITY) [MIM:601665]
P37231	PPARG_HUMAN	12	P	A	Polymorphism	-
P37231	PPARG_HUMAN	40	P	A	Polymorphism	-
P37231	PPARG_HUMAN	388	F	L	Disease	Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367]
P37231	PPARG_HUMAN	314	Q	P	Unclassified	Colon cancer
P37231	PPARG_HUMAN	316	R	H	Unclassified	Colon cancer
P37231	PPARG_HUMAN	318	V	M	Polymorphism	-
P37231	PPARG_HUMAN	495	P	L	Polymorphism	-
P37231	PPARG_HUMAN	425	R	C	Disease	Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367]
P37268	FDFT_HUMAN	45	K	R	Polymorphism	-
P37268	FDFT_HUMAN	392	L	P	Polymorphism	-
P37275	ZEB1_HUMAN	696	N	S	Disease	Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
P37275	ZEB1_HUMAN	640	Q	H	Disease	Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
P37275	ZEB1_HUMAN	810	Q	P	Disease	Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
P37275	ZEB1_HUMAN	78	N	T	Disease	Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
P37275	ZEB1_HUMAN	840	Q	P	Disease	Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
P37275	ZEB1_HUMAN	525	G	E	Unclassified	-
P37275	ZEB1_HUMAN	905	A	G	Disease	Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
P37275	ZEB1_HUMAN	90	G	R	Polymorphism	-
P37275	ZEB1_HUMAN	553	K	R	Polymorphism	-
P37275	ZEB1_HUMAN	905	A	T	Disease	Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
P37275	ZEB1_HUMAN	649	P	A	Disease	Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
P37287	PIGA_HUMAN	155	S	F	Disease	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287	PIGA_HUMAN	239	G	R	Disease	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287	PIGA_HUMAN	135	A	V	Disease	-
P37287	PIGA_HUMAN	128	H	R	Disease	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287	PIGA_HUMAN	355	L	S	Unclassified	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]
P37287	PIGA_HUMAN	48	G	V	Disease	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287	PIGA_HUMAN	19	R	W	Disease	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287	PIGA_HUMAN	297	N	D	Disease	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287	PIGA_HUMAN	77	R	L	Disease	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]
P37287	PIGA_HUMAN	48	G	A	Disease	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287	PIGA_HUMAN	48	G	D	Disease	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287	PIGA_HUMAN	206	I	F	Disease	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]
P37287	PIGA_HUMAN	40	D	H	Disease	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287	PIGA_HUMAN	93	P	L	Disease	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]
P37287	PIGA_HUMAN	119	R	W	Disease	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]
P37288	V1AR_HUMAN	6	G	S	Polymorphism	-
P37802	TAGL2_HUMAN	69	L	Q	Polymorphism	-
P37840	SYUA_HUMAN	53	A	T	Disease	Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601]
P37840	SYUA_HUMAN	30	A	P	Disease	Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601]
P37840	SYUA_HUMAN	46	E	K	Disease	Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601]
P37840	SYUA_HUMAN	46	E	K	Disease	Dementia, Lewy body (DLB) [MIM:127750]
P37840	SYUA_HUMAN	50	H	Q	Disease	Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601]
P38117	ETFB_HUMAN	154	T	M	Polymorphism	-
P38117	ETFB_HUMAN	164	R	Q	Disease	Glutaric aciduria 2B (GA2B) [MIM:231680]
P38117	ETFB_HUMAN	128	D	N	Disease	Glutaric aciduria 2B (GA2B) [MIM:231680]
P38398	BRCA1_HUMAN	1448	S	G	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1780	L	P	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	820	K	E	Polymorphism	-
P38398	BRCA1_HUMAN	1651	S	P	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1766	I	S	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1651	S	F	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1250	E	K	Polymorphism	-
P38398	BRCA1_HUMAN	1214	E	K	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1407	L	P	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	778	G	C	Unclassified	A breast cancer sample
P38398	BRCA1_HUMAN	231	T	M	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1775	M	K	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1411	M	T	Unclassified	Ovarian cancer (OC) [MIM:167000]
P38398	BRCA1_HUMAN	856	Y	H	Unclassified	A patient with sporadic breast cancer
P38398	BRCA1_HUMAN	1788	G	V	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	246	L	V	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1789	A	T	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	61	C	G	Disease	Ovarian cancer (OC) [MIM:167000]
P38398	BRCA1_HUMAN	186	S	Y	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1060	E	A	Polymorphism	-
P38398	BRCA1_HUMAN	1217	S	Y	Disease	Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
P38398	BRCA1_HUMAN	1204	R	I	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	245	D	V	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	826	T	K	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	668	L	F	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	695	D	N	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	841	R	W	Unclassified	Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
P38398	BRCA1_HUMAN	1207	K	N	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1210	E	G	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1187	S	I	Disease	Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
P38398	BRCA1_HUMAN	960	G	D	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1140	S	N	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1346	E	K	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	810	N	Y	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	772	V	A	Polymorphism	-
P38398	BRCA1_HUMAN	1217	S	Y	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	507	R	I	Unclassified	-
P38398	BRCA1_HUMAN	465	Y	D	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	165	L	P	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	64	C	Y	Polymorphism	-
P38398	BRCA1_HUMAN	1139	S	I	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	798	P	L	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1301	S	R	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1183	K	R	Polymorphism	-
P38398	BRCA1_HUMAN	841	R	Q	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	4	S	F	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	866	R	Q	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	132	N	K	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	21	I	V	Unclassified	-
P38398	BRCA1_HUMAN	888	H	Y	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1534	V	M	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1243	R	G	Disease	Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
P38398	BRCA1_HUMAN	1008	M	I	Polymorphism	-
P38398	BRCA1_HUMAN	1486	S	C	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	275	G	S	Polymorphism	-
P38398	BRCA1_HUMAN	1297	S	P	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1837	W	R	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1443	R	G	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	758	L	F	Unclassified	A breast cancer sample
P38398	BRCA1_HUMAN	45	K	Q	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	10	E	K	Disease	Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
P38398	BRCA1_HUMAN	1662	F	C	Polymorphism	-
P38398	BRCA1_HUMAN	1443	R	Q	Polymorphism	-
P38398	BRCA1_HUMAN	23	E	K	Disease	Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
P38398	BRCA1_HUMAN	1697	C	R	Disease	Ovarian cancer (OC) [MIM:167000]
P38398	BRCA1_HUMAN	1282	E	V	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1219	E	D	Unclassified	-
P38398	BRCA1_HUMAN	1150	P	S	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	11	V	A	Unclassified	-
P38398	BRCA1_HUMAN	866	R	C	Polymorphism	-
P38398	BRCA1_HUMAN	22	L	S	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1378	V	I	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1226	F	L	Disease	Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
P38398	BRCA1_HUMAN	1655	S	F	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1267	L	S	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1715	S	R	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	23	E	K	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	71	R	K	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1411	M	T	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	871	P	L	Polymorphism	-
P38398	BRCA1_HUMAN	1692	D	N	Unclassified	Ovarian cancer (OC) [MIM:167000]
P38398	BRCA1_HUMAN	1685	T	A	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1812	P	S	Unclassified	Ovarian cancer (OC) [MIM:167000]
P38398	BRCA1_HUMAN	1140	S	G	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	153	S	R	Polymorphism	-
P38398	BRCA1_HUMAN	379	I	M	Polymorphism	-
P38398	BRCA1_HUMAN	1690	K	Q	Unclassified	Some patients with sporadic breast cancer
P38398	BRCA1_HUMAN	1495	R	M	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1589	R	P	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1040	S	N	Polymorphism	-
P38398	BRCA1_HUMAN	1187	S	I	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1236	N	K	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	749	D	Y	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1200	Q	H	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	271	V	M	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	656	N	I	Polymorphism	-
P38398	BRCA1_HUMAN	1038	E	G	Polymorphism	-
P38398	BRCA1_HUMAN	1623	A	G	Polymorphism	-
P38398	BRCA1_HUMAN	1400	M	V	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	30	L	F	Unclassified	A breast cancer sample
P38398	BRCA1_HUMAN	1025	T	I	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	18	M	T	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	989	F	S	Polymorphism	-
P38398	BRCA1_HUMAN	892	L	S	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	835	H	Y	Unclassified	Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
P38398	BRCA1_HUMAN	1200	Q	H	Disease	Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
P38398	BRCA1_HUMAN	1101	S	N	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1689	M	R	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	191	V	I	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	64	C	G	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1713	V	G	Polymorphism	-
P38398	BRCA1_HUMAN	170	R	W	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	356	Q	R	Polymorphism	-
P38398	BRCA1_HUMAN	105	Y	C	Polymorphism	-
P38398	BRCA1_HUMAN	1776	P	S	Unclassified	Ovarian cancer (OC) [MIM:167000]
P38398	BRCA1_HUMAN	1561	T	I	Unclassified	-
P38398	BRCA1_HUMAN	1620	T	A	Polymorphism	-
P38398	BRCA1_HUMAN	1047	V	A	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	10	E	K	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1685	T	I	Polymorphism	-
P38398	BRCA1_HUMAN	61	C	G	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	271	V	L	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	693	D	N	Polymorphism	-
P38398	BRCA1_HUMAN	1708	A	E	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	147	L	F	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	142	P	H	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1686	H	R	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	67	D	Y	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1699	R	Q	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1738	G	R	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	723	N	D	Polymorphism	-
P38398	BRCA1_HUMAN	1780	L	P	Unclassified	Ovarian cancer (OC) [MIM:167000]
P38398	BRCA1_HUMAN	1706	G	E	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1641	A	P	Unclassified	Ovarian cancer (OC) [MIM:167000]
P38398	BRCA1_HUMAN	1628	M	T	Unclassified	Some patients with sporadic breast cancer
P38398	BRCA1_HUMAN	552	G	V	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1613	S	G	Polymorphism	-
P38398	BRCA1_HUMAN	346	P	S	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1786	L	P	Unclassified	Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
P38398	BRCA1_HUMAN	925	I	L	Polymorphism	-
P38398	BRCA1_HUMAN	1739	D	G	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1512	S	I	Polymorphism	-
P38398	BRCA1_HUMAN	1718	W	C	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1665	V	M	Polymorphism	-
P38398	BRCA1_HUMAN	1699	R	W	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1699	R	W	Disease	Fanconi anemia, complementation group S (FANCS) [MIM:617883]
P38398	BRCA1_HUMAN	1862	H	L	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	239	H	R	Polymorphism	-
P38398	BRCA1_HUMAN	461	F	L	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1804	V	D	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1652	M	I	Polymorphism	-
P38398	BRCA1_HUMAN	227	E	K	Unclassified	Ovarian cancer (OC) [MIM:167000]
P38398	BRCA1_HUMAN	1749	P	R	Unclassified	Ovarian cancer (OC) [MIM:167000]
P38398	BRCA1_HUMAN	1775	M	R	Disease	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1699	R	W	Disease	Ovarian cancer (OC) [MIM:167000]
P38398	BRCA1_HUMAN	1780	L	P	Unclassified	Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
P38398	BRCA1_HUMAN	1782	W	C	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1686	H	Q	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1406	K	N	Polymorphism	-
P38398	BRCA1_HUMAN	1628	M	V	Unclassified	-
P38398	BRCA1_HUMAN	1739	D	V	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1812	P	R	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1347	R	G	Polymorphism	-
P38398	BRCA1_HUMAN	1794	E	D	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1736	V	A	Unclassified	Fanconi anemia, complementation group S (FANCS) [MIM:617883]
P38398	BRCA1_HUMAN	1770	G	V	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1753	R	T	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1691	T	I	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1746	H	Q	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1767	C	S	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1431	S	P	Polymorphism	-
P38398	BRCA1_HUMAN	1606	K	E	Unclassified	-
P38398	BRCA1_HUMAN	1764	L	P	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1637	P	L	Polymorphism	-
P38398	BRCA1_HUMAN	1735	E	K	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1736	V	A	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1720	T	A	Unclassified	Breast cancer (BC) [MIM:114480]
P38398	BRCA1_HUMAN	1706	G	A	Unclassified	Breast cancer (BC) [MIM:114480]
P38405	GNAL_HUMAN	137	V	M	Disease	Dystonia 25 (DYT25) [MIM:615073]
P38405	GNAL_HUMAN	155	E	K	Disease	Dystonia 25 (DYT25) [MIM:615073]
P38405	GNAL_HUMAN	16	V	F	Polymorphism	-
P38435	VKGC_HUMAN	476	R	C	Disease	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
P38435	VKGC_HUMAN	299	F	S	Disease	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
P38435	VKGC_HUMAN	325	R	Q	Polymorphism	-
P38435	VKGC_HUMAN	558	G	R	Disease	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
P38435	VKGC_HUMAN	493	W	S	Disease	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
P38435	VKGC_HUMAN	476	R	H	Disease	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
P38435	VKGC_HUMAN	485	R	P	Disease	Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450]
P38435	VKGC_HUMAN	501	W	S	Disease	Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450]
P38435	VKGC_HUMAN	394	L	R	Disease	Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450]
P38484	INGR2_HUMAN	168	T	N	Disease	Immunodeficiency 28 (IMD28) [MIM:614889]
P38484	INGR2_HUMAN	182	K	E	Polymorphism	-
P38484	INGR2_HUMAN	147	E	K	Polymorphism	-
P38484	INGR2_HUMAN	141	G	R	Disease	Immunodeficiency 28 (IMD28) [MIM:614889]
P38484	INGR2_HUMAN	114	R	C	Disease	Immunodeficiency 28 (IMD28) [MIM:614889]
P38484	INGR2_HUMAN	64	Q	R	Polymorphism	-
P38484	INGR2_HUMAN	58	T	R	Polymorphism	-
P38484	INGR2_HUMAN	227	G	R	Disease	Immunodeficiency 28 (IMD28) [MIM:614889]
P38484	INGR2_HUMAN	124	S	F	Disease	Immunodeficiency 28 (IMD28) [MIM:614889]
P38567	HYALP_HUMAN	5	K	Q	Unclassified	-
P38567	HYALP_HUMAN	47	V	A	Polymorphism	-
P38570	ITAE_HUMAN	482	R	Q	Polymorphism	-
P38570	ITAE_HUMAN	477	I	V	Polymorphism	-
P38570	ITAE_HUMAN	1019	V	A	Polymorphism	-
P38570	ITAE_HUMAN	360	D	E	Polymorphism	-
P38570	ITAE_HUMAN	892	Q	H	Polymorphism	-
P38570	ITAE_HUMAN	950	R	W	Polymorphism	-
P38570	ITAE_HUMAN	1041	C	S	Polymorphism	-
P38571	LICH_HUMAN	129	H	P	Disease	Cholesteryl ester storage disease (CESD) [MIM:278000]
P38571	LICH_HUMAN	200	L	P	Disease	Wolman disease (WOD) [MIM:278000]
P38571	LICH_HUMAN	228	F	S	Polymorphism	-
P38571	LICH_HUMAN	200	L	P	Disease	Cholesteryl ester storage disease (CESD) [MIM:278000]
P38571	LICH_HUMAN	16	T	P	Polymorphism	-
P38571	LICH_HUMAN	23	G	R	Polymorphism	-
P38571	LICH_HUMAN	29	V	L	Polymorphism	-
P38571	LICH_HUMAN	129	H	R	Disease	Cholesteryl ester storage disease (CESD) [MIM:278000]
P38606	VATA_HUMAN	338	R	C	Disease	Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403]
P38606	VATA_HUMAN	249	P	R	Unclassified	-
P38606	VATA_HUMAN	11	D	N	Unclassified	-
P38606	VATA_HUMAN	72	G	D	Disease	Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403]
P38606	VATA_HUMAN	27	P	R	Unclassified	Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012]
P38606	VATA_HUMAN	100	D	Y	Disease	Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012]
P38606	VATA_HUMAN	349	D	N	Disease	Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012]
P38606	VATA_HUMAN	371	D	G	Unclassified	Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012]
P38646	GRP75_HUMAN	74	Q	R	Polymorphism	-
P38646	GRP75_HUMAN	225	A	G	Polymorphism	-
P38646	GRP75_HUMAN	415	E	K	Unclassified	Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170]
P38646	GRP75_HUMAN	184	H	Y	Polymorphism	-
P38646	GRP75_HUMAN	128	Y	C	Disease	Even-plus syndrome (EVPLS) [MIM:616854]
P38646	GRP75_HUMAN	127	R	G	Polymorphism	-
P38646	GRP75_HUMAN	573	R	W	Polymorphism	-
P38646	GRP75_HUMAN	212	S	P	Unclassified	Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170]
P38646	GRP75_HUMAN	539	T	K	Polymorphism	-
P38646	GRP75_HUMAN	126	R	W	Disease	Even-plus syndrome (EVPLS) [MIM:616854]
P38646	GRP75_HUMAN	200	S	L	Polymorphism	-
P38646	GRP75_HUMAN	577	E	K	Polymorphism	-
P38646	GRP75_HUMAN	388	G	S	Unclassified	Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170]
P38919	IF4A3_HUMAN	270	D	G	Disease	Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305]
P38935	SMBP2_HUMAN	364	L	P	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	694	R	W	Polymorphism	-
P38935	SMBP2_HUMAN	196	Q	R	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	192	L	P	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	580	V	I	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	928	E	K	Polymorphism	-
P38935	SMBP2_HUMAN	603	R	C	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	373	V	G	Disease	Charcot-Marie-Tooth disease 2S (CMT2S) [MIM:616155]
P38935	SMBP2_HUMAN	241	C	R	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	565	D	N	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	75	A	T	Polymorphism	-
P38935	SMBP2_HUMAN	557	P	A	Polymorphism	-
P38935	SMBP2_HUMAN	603	R	H	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	17	L	P	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	334	E	K	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	382	E	K	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	671	T	A	Polymorphism	-
P38935	SMBP2_HUMAN	275	I	V	Polymorphism	-
P38935	SMBP2_HUMAN	213	H	R	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	974	D	E	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	201	L	S	Polymorphism	-
P38935	SMBP2_HUMAN	514	E	K	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	426	L	P	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	472	L	P	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	369	F	L	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	221	T	A	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	251	L	P	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	202	F	V	Disease	Charcot-Marie-Tooth disease 2S (CMT2S) [MIM:616155]
P38935	SMBP2_HUMAN	879	T	K	Polymorphism	-
P38935	SMBP2_HUMAN	528	A	T	Disease	Charcot-Marie-Tooth disease 2S (CMT2S) [MIM:616155]
P38935	SMBP2_HUMAN	445	H	P	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	216	P	L	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	586	G	C	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	386	W	R	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	583	N	I	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	577	L	P	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	581	R	S	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	637	R	C	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	361	L	P	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935	SMBP2_HUMAN	493	T	I	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38936	CDN1A_HUMAN	4	P	L	Polymorphism	-
P38936	CDN1A_HUMAN	63	F	L	Polymorphism	-
P38936	CDN1A_HUMAN	31	S	R	Polymorphism	-
P39019	RS19_HUMAN	131	L	P	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	76	T	P	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	21	F	S	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	62	R	Q	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	55	T	M	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	52	W	R	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	15	V	F	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	52	W	C	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	17	A	P	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	127	G	E	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	59	S	F	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	18	L	P	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	131	L	R	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	47	P	L	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	64	L	P	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	61	A	E	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	101	R	H	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	56	R	Q	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	57	A	P	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	135	A	T	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	120	G	R	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	62	R	W	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39019	RS19_HUMAN	18	L	R	Disease	Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]
P39023	RL3_HUMAN	11	H	R	Unclassified	-
P39059	COFA1_HUMAN	1001	K	R	Polymorphism	-
P39059	COFA1_HUMAN	442	A	T	Polymorphism	-
P39059	COFA1_HUMAN	705	P	L	Polymorphism	-
P39059	COFA1_HUMAN	1332	V	I	Polymorphism	-
P39059	COFA1_HUMAN	506	E	D	Polymorphism	-
P39059	COFA1_HUMAN	446	G	R	Polymorphism	-
P39059	COFA1_HUMAN	504	G	V	Polymorphism	-
P39059	COFA1_HUMAN	531	P	R	Polymorphism	-
P39059	COFA1_HUMAN	163	R	H	Polymorphism	-
P39059	COFA1_HUMAN	204	M	V	Polymorphism	-
P39059	COFA1_HUMAN	391	T	M	Polymorphism	-
P39059	COFA1_HUMAN	989	K	R	Polymorphism	-
P39060	COIA1_HUMAN	1121	P	R	Polymorphism	-
P39060	COIA1_HUMAN	1675	D	N	Polymorphism	-
P39060	COIA1_HUMAN	288	A	T	Polymorphism	-
P39060	COIA1_HUMAN	111	G	R	Polymorphism	-
P39060	COIA1_HUMAN	49	Q	L	Polymorphism	-
P39060	COIA1_HUMAN	1076	V	I	Polymorphism	-
P39060	COIA1_HUMAN	1195	Q	H	Polymorphism	-
P39060	COIA1_HUMAN	379	T	M	Polymorphism	-
P39086	GRIK1_HUMAN	870	A	V	Polymorphism	-
P39086	GRIK1_HUMAN	862	R	Q	Polymorphism	-
P39086	GRIK1_HUMAN	332	A	V	Polymorphism	-
P39086	GRIK1_HUMAN	902	L	S	Polymorphism	-
P39086	GRIK1_HUMAN	757	I	V	Polymorphism	-
P39086	GRIK1_HUMAN	636	Q	R	Unclassified	-
P39210	MPV17_HUMAN	98	P	L	Disease	Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
P39210	MPV17_HUMAN	50	R	Q	Disease	Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
P39210	MPV17_HUMAN	162	A	D	Disease	Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
P39210	MPV17_HUMAN	50	R	W	Disease	Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
P39210	MPV17_HUMAN	94	G	R	Disease	Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
P39210	MPV17_HUMAN	166	N	K	Disease	Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
P39210	MPV17_HUMAN	88	K	E	Disease	Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
P39656	OST48_HUMAN	8	R	G	Polymorphism	-
P39656	OST48_HUMAN	217	G	D	Disease	Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507]
P39877	PA2G5_HUMAN	45	G	C	Disease	Fleck retina, familial benign (FRFB) [MIM:228980]
P39877	PA2G5_HUMAN	49	G	S	Disease	Fleck retina, familial benign (FRFB) [MIM:228980]
P39900	MMP12_HUMAN	469	G	R	Polymorphism	-
P39900	MMP12_HUMAN	357	N	S	Polymorphism	-
P39905	GDNF_HUMAN	154	T	S	Disease	Hirschsprung disease 3 (HSCR3) [MIM:613711]
P39905	GDNF_HUMAN	211	I	M	Disease	Hirschsprung disease 3 (HSCR3) [MIM:613711]
P39905	GDNF_HUMAN	93	R	W	Unclassified	Pheochromocytoma (PCC) [MIM:171300]
P39905	GDNF_HUMAN	150	D	N	Polymorphism	-
P39905	GDNF_HUMAN	93	R	W	Unclassified	Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
P39905	GDNF_HUMAN	93	R	W	Unclassified	Hirschsprung disease 3 (HSCR3) [MIM:613711]
P39905	GDNF_HUMAN	21	P	S	Unclassified	Hirschsprung disease 3 (HSCR3) [MIM:613711]
P40121	CAPG_HUMAN	41	V	I	Polymorphism	-
P40121	CAPG_HUMAN	335	H	R	Polymorphism	-
P40121	CAPG_HUMAN	198	R	W	Polymorphism	-
P40123	CAP2_HUMAN	311	T	A	Polymorphism	-
P40123	CAP2_HUMAN	316	Y	C	Polymorphism	-
P40145	ADCY8_HUMAN	881	F	L	Unclassified	A colorectal cancer sample
P40145	ADCY8_HUMAN	80	A	T	Polymorphism	-
P40189	IL6RB_HUMAN	148	G	R	Polymorphism	-
P40189	IL6RB_HUMAN	454	I	T	Polymorphism	-
P40189	IL6RB_HUMAN	415	T	I	Unclassified	A colorectal cancer sample
P40189	IL6RB_HUMAN	397	L	V	Polymorphism	-
P40189	IL6RB_HUMAN	8	L	V	Polymorphism	-
P40189	IL6RB_HUMAN	200	A	G	Unclassified	-
P40189	IL6RB_HUMAN	499	V	I	Polymorphism	-
P40198	CEAM3_HUMAN	7	S	P	Polymorphism	-
P40199	CEAM6_HUMAN	239	G	V	Polymorphism	-
P40200	TACT_HUMAN	280	T	M	Disease	C syndrome (CSYN) [MIM:211750]
P40200	TACT_HUMAN	142	A	P	Polymorphism	-
P40225	TPO_HUMAN	14	L	P	Polymorphism	-
P40225	TPO_HUMAN	116	G	E	Polymorphism	-
P40227	TCPZ_HUMAN	229	Y	C	Polymorphism	-
P40238	TPOR_HUMAN	257	R	L	Disease	Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]
P40238	TPOR_HUMAN	168	E	K	Polymorphism	-
P40238	TPOR_HUMAN	136	P	L	Disease	Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]
P40238	TPOR_HUMAN	39	K	N	Polymorphism	-
P40238	TPOR_HUMAN	154	W	R	Disease	Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]
P40238	TPOR_HUMAN	114	V	M	Polymorphism	-
P40238	TPOR_HUMAN	102	R	C	Disease	Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]
P40238	TPOR_HUMAN	104	F	S	Disease	Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]
P40238	TPOR_HUMAN	505	S	N	Disease	Thrombocythemia 2 (THCYT2) [MIM:601977]
P40238	TPOR_HUMAN	106	P	L	Disease	Thrombocythemia 2 (THCYT2) [MIM:601977]
P40238	TPOR_HUMAN	435	W	C	Disease	Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]
P40238	TPOR_HUMAN	515	W	L	Disease	Thrombocythemia 2 (THCYT2) [MIM:601977]
P40238	TPOR_HUMAN	58	A	V	Polymorphism	-
P40238	TPOR_HUMAN	102	R	P	Disease	Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]
P40238	TPOR_HUMAN	515	W	L	Disease	Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450]
P40238	TPOR_HUMAN	275	P	T	Disease	Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]
P40238	TPOR_HUMAN	594	L	W	Disease	Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]
P40238	TPOR_HUMAN	515	W	K	Disease	Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450]
P40259	CD79B_HUMAN	137	G	S	Disease	Agammaglobulinemia 6, autosomal recessive (AGM6) [MIM:612692]
P40305	IFI27_HUMAN	109	S	F	Polymorphism	-
P40313	CTRL_HUMAN	173	H	R	Polymorphism	-
P40313	CTRL_HUMAN	150	T	I	Polymorphism	-
P40337	VHL_HUMAN	188	L	V	Disease	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
P40337	VHL_HUMAN	101	L	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	156	Y	D	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	64	R	P	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	38	S	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	184	L	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	78	N	T	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	107	R	G	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	157	T	I	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	188	L	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	104	G	A	Polymorphism	-
P40337	VHL_HUMAN	161	R	P	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	188	L	Q	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	162	C	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	158	L	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	112	Y	H	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	76	F	S	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	79	R	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	126	D	Y	Disease	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
P40337	VHL_HUMAN	25	P	L	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	198	L	R	Disease	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
P40337	VHL_HUMAN	65	S	A	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	159	K	E	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	163	L	P	Disease	Renal cell carcinoma (RCC) [MIM:144700]
P40337	VHL_HUMAN	82	R	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	188	L	V	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	147	I	T	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	80	S	I	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	78	N	S	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	158	L	V	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	161	R	Q	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	161	R	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	198	L	Q	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	93	G	C	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	98	Y	H	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	86	P	A	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	188	L	V	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	170	V	G	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	81	P	S	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	78	N	H	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	162	C	F	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	162	C	Y	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	111	S	C	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	111	S	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	161	R	G	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	96	Q	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	145	Q	H	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	200	R	W	Disease	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
P40337	VHL_HUMAN	198	L	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	192	P	S	Disease	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
P40337	VHL_HUMAN	167	R	W	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	156	Y	N	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	80	S	N	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	63	L	P	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	122	A	I	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	136	F	Y	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	155	V	M	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	166	V	D	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	156	Y	C	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	156	Y	C	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	89	L	H	Unclassified	Lung cancer
P40337	VHL_HUMAN	180	I	V	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	184	L	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	86	P	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	84	V	L	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	80	S	N	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	80	S	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	68	S	W	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	107	R	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	105	T	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	111	S	N	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	162	C	W	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	76	F	L	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	136	F	S	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	93	G	S	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	93	G	C	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	114	G	C	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	167	R	W	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	101	L	G	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	112	Y	N	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	135	L	F	Polymorphism	-
P40337	VHL_HUMAN	161	R	Q	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	98	Y	H	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	52	E	K	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	76	F	I	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	164	Q	H	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	176	R	W	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	155	V	G	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	143	D	E	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	110	H	Y	Polymorphism	-
P40337	VHL_HUMAN	114	G	S	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	167	R	Q	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	191	H	D	Disease	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
P40337	VHL_HUMAN	164	Q	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	115	H	Y	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	106	G	D	Unclassified	Lung cancer
P40337	VHL_HUMAN	65	S	L	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	70	E	K	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	115	H	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	86	P	H	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	200	R	W	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	136	F	C	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	89	L	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	86	P	L	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	170	V	D	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	167	R	G	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	114	G	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	170	V	F	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	68	S	W	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	65	S	W	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	74	V	G	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	121	D	G	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	136	F	C	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	154	P	L	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	119	F	S	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	91	F	L	Polymorphism	-
P40337	VHL_HUMAN	186	E	K	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	128	L	F	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	117	W	C	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	166	V	F	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	131	N	K	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	149	A	T	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	130	V	L	Disease	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
P40337	VHL_HUMAN	178	L	Q	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	118	L	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	88	W	S	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	130	V	L	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	88	W	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	93	G	S	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	131	N	T	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	116	L	V	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	119	F	L	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	167	R	Q	Disease	Pheochromocytoma (PCC) [MIM:171300]
P40337	VHL_HUMAN	115	H	Q	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	93	G	D	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	119	F	L	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	175	Y	D	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	86	P	S	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	178	L	P	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40337	VHL_HUMAN	118	L	R	Disease	Von Hippel-Lindau disease (VHLD) [MIM:193300]
P40394	ADH7_HUMAN	92	G	A	Polymorphism	-
P40424	PBX1_HUMAN	31	G	S	Polymorphism	-
P40692	MLH1_HUMAN	648	P	S	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	588	L	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	559	L	R	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	619	A	P	Polymorphism	-
P40692	MLH1_HUMAN	101	G	D	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	182	R	K	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	586	A	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	265	R	S	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	640	P	L	Polymorphism	-
P40692	MLH1_HUMAN	718	H	Y	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	659	R	L	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	18	R	C	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	22	G	A	Polymorphism	-
P40692	MLH1_HUMAN	656	F	S	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	379	Y	C	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	539	A	D	Polymorphism	-
P40692	MLH1_HUMAN	662	T	P	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	217	R	G	Polymorphism	-
P40692	MLH1_HUMAN	603	P	R	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	193	S	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	111	A	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	549	L	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	622	L	H	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	618	K	T	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	648	P	L	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	681	A	T	Disease	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	329	H	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	38	N	K	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	38	N	H	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	37	E	K	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	725	R	H	Polymorphism	-
P40692	MLH1_HUMAN	646	Y	C	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	35	M	K	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	77	C	Y	Disease	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	631	D	A	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	654	P	L	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	325	R	Q	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	35	M	N	Disease	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P40692	MLH1_HUMAN	441	A	T	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	309	P	S	Polymorphism	-
P40692	MLH1_HUMAN	551	N	T	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	607	L	H	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	659	R	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	601	D	G	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	67	G	R	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	185	V	G	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	589	A	D	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	623	A	P	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	635	N	K	Unclassified	Gastric cancer
P40692	MLH1_HUMAN	636	L	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	565	I	F	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	666	W	R	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	109	H	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	31	A	C	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	93	S	G	Polymorphism	-
P40692	MLH1_HUMAN	219	I	V	Polymorphism	-
P40692	MLH1_HUMAN	681	A	T	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	102	E	K	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	41	D	G	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	618	K	R	Disease	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	542	Q	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	132	D	H	Disease	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	687	R	W	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	117	T	R	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	19	I	F	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	689	Q	R	Unclassified	-
P40692	MLH1_HUMAN	69	R	K	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	485	D	E	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	29	A	S	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	385	R	C	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	578	E	G	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	116	T	R	Polymorphism	-
P40692	MLH1_HUMAN	485	D	H	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	578	E	G	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	338	N	S	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	282	A	G	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	185	V	L	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	247	S	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	217	R	C	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	755	R	W	Polymorphism	-
P40692	MLH1_HUMAN	68	I	N	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	423	R	T	Polymorphism	-
P40692	MLH1_HUMAN	67	G	W	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	574	L	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	64	N	S	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	106	S	R	Unclassified	Gastric cancer
P40692	MLH1_HUMAN	54	G	E	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	640	P	S	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	385	R	P	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	264	H	Y	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	474	R	Q	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	109	H	Q	Unclassified	Gastric cancer
P40692	MLH1_HUMAN	472	R	I	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	585	L	R	Polymorphism	-
P40692	MLH1_HUMAN	107	I	R	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	618	K	A	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	28	P	L	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	111	A	V	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	542	Q	L	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	716	V	M	Polymorphism	-
P40692	MLH1_HUMAN	304	D	V	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	443	K	Q	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	260	L	R	Disease	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	234	E	G	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	460	E	A	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	321	S	I	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	32	I	V	Polymorphism	-
P40692	MLH1_HUMAN	406	S	N	Polymorphism	-
P40692	MLH1_HUMAN	77	C	R	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	117	T	M	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	63	D	E	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	25	I	F	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	226	R	L	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	389	R	W	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	126	Y	N	Polymorphism	-
P40692	MLH1_HUMAN	550	L	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	292	L	P	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	655	I	V	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	265	R	H	Polymorphism	-
P40692	MLH1_HUMAN	155	L	R	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	659	R	Q	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	751	K	R	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	320	E	D	Polymorphism	-
P40692	MLH1_HUMAN	260	L	F	Unclassified	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	128	A	P	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	582	L	F	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	44	S	F	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	62	Q	K	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	582	L	V	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	724	L	M	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	67	G	E	Disease	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	384	V	D	Polymorphism	-
P40692	MLH1_HUMAN	403	P	S	Polymorphism	-
P40692	MLH1_HUMAN	213	V	L	Polymorphism	-
P40692	MLH1_HUMAN	116	T	K	Polymorphism	-
P40692	MLH1_HUMAN	35	M	R	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	729	L	V	Polymorphism	-
P40692	MLH1_HUMAN	182	R	G	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	41	D	H	Polymorphism	-
P40692	MLH1_HUMAN	244	G	V	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	474	R	W	Polymorphism	-
P40692	MLH1_HUMAN	84	K	E	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	295	S	T	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	101	G	S	Polymorphism	-
P40692	MLH1_HUMAN	215	N	S	Polymorphism	-
P40692	MLH1_HUMAN	749	L	P	Disease	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	216	I	S	Polymorphism	-
P40692	MLH1_HUMAN	213	V	M	Polymorphism	-
P40692	MLH1_HUMAN	506	V	A	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	268	E	G	Disease	Colorectal cancer (CRC) [MIM:114500]
P40692	MLH1_HUMAN	80	F	V	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	326	V	A	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	21	A	V	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	244	G	D	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	492	A	T	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	98	G	S	Polymorphism	-
P40692	MLH1_HUMAN	265	R	C	Disease	Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
P40692	MLH1_HUMAN	264	H	L	Polymorphism	-
P40763	STAT3_HUMAN	395	N	Y	Unclassified	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	392	K	R	Disease	Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952]
P40763	STAT3_HUMAN	621	F	V	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	637	V	L	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	425	N	Y	Unclassified	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	389	T	I	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	382	R	Q	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	657	Y	C	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	382	R	W	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	143	M	I	Polymorphism	-
P40763	STAT3_HUMAN	330	P	S	Disease	Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952]
P40763	STAT3_HUMAN	561	F	Y	Polymorphism	-
P40763	STAT3_HUMAN	384	F	S	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	32	Q	K	Polymorphism	-
P40763	STAT3_HUMAN	622	T	I	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	658	K	N	Disease	Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952]
P40763	STAT3_HUMAN	423	R	Q	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	437	H	Y	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	716	T	M	Disease	Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952]
P40763	STAT3_HUMAN	637	V	M	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	382	R	L	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	384	F	L	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	611	S	N	Disease	Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
P40763	STAT3_HUMAN	646	N	K	Disease	Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952]
P40818	UBP8_HUMAN	827	A	G	Polymorphism	-
P40818	UBP8_HUMAN	310	Q	K	Unclassified	-
P40818	UBP8_HUMAN	718	S	C	Unclassified	Pituitary adenoma 4, ACTH-secreting (PITA4) [MIM:219090]
P40818	UBP8_HUMAN	718	S	P	Unclassified	Pituitary adenoma 4, ACTH-secreting (PITA4) [MIM:219090]
P40818	UBP8_HUMAN	739	T	A	Polymorphism	-
P40818	UBP8_HUMAN	443	D	G	Polymorphism	-
P40818	UBP8_HUMAN	720	P	R	Unclassified	Pituitary adenoma 4, ACTH-secreting (PITA4) [MIM:219090]
P40879	S26A3_HUMAN	394	S	I	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	129	P	L	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	753	N	S	Polymorphism	-
P40879	S26A3_HUMAN	652	D	N	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	520	Y	C	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	379	G	A	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	521	K	N	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	175	R	S	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	508	C	R	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	496	L	R	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	131	P	R	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	134	S	N	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	438	S	P	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	495	Q	P	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	544	I	N	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	220	H	P	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	131	P	L	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	204	Y	D	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	206	S	P	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	468	D	V	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	654	S	P	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	136	M	I	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	398	S	F	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	554	R	Q	Polymorphism	-
P40879	S26A3_HUMAN	124	H	L	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	343	C	Y	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	68	R	Q	Polymorphism	-
P40879	S26A3_HUMAN	307	C	W	Polymorphism	-
P40879	S26A3_HUMAN	120	G	S	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40879	S26A3_HUMAN	547	A	E	Disease	Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
P40926	MDHM_HUMAN	133	P	L	Disease	Epileptic encephalopathy, early infantile, 51 (EIEE51) [MIM:617339]
P40926	MDHM_HUMAN	9	A	V	Polymorphism	-
P40926	MDHM_HUMAN	207	P	L	Disease	Epileptic encephalopathy, early infantile, 51 (EIEE51) [MIM:617339]
P40926	MDHM_HUMAN	37	G	R	Disease	Epileptic encephalopathy, early infantile, 51 (EIEE51) [MIM:617339]
P40937	RFC5_HUMAN	13	A	T	Polymorphism	-
P40938	RFC3_HUMAN	16	L	V	Polymorphism	-
P40939	ECHA_HUMAN	282	V	D	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P40939	ECHA_HUMAN	342	L	P	Disease	Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]
P40939	ECHA_HUMAN	510	E	Q	Disease	Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]
P40939	ECHA_HUMAN	510	E	Q	Disease	Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]
P40939	ECHA_HUMAN	305	I	N	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P40939	ECHA_HUMAN	358	Q	K	Polymorphism	-
P40967	PMEL_HUMAN	320	P	H	Polymorphism	-
P40967	PMEL_HUMAN	370	E	D	Polymorphism	-
P41091	IF2G_HUMAN	108	S	R	Unclassified	MEHMO syndrome (MEHMO) [MIM:300148]
P41091	IF2G_HUMAN	125	K	R	Polymorphism	-
P41091	IF2G_HUMAN	222	I	T	Disease	MEHMO syndrome (MEHMO) [MIM:300148]
P41091	IF2G_HUMAN	259	I	M	Unclassified	MEHMO syndrome (MEHMO) [MIM:300148]
P41134	ID1_HUMAN	63	N	D	Polymorphism	-
P41143	OPRD_HUMAN	27	C	F	Polymorphism	-
P41145	OPRK_HUMAN	374	D	N	Polymorphism	-
P41159	LEP_HUMAN	105	R	W	Disease	Leptin deficiency (LEPD) [MIM:614962]
P41159	LEP_HUMAN	100	D	Y	Disease	Leptin deficiency (LEPD) [MIM:614962]
P41159	LEP_HUMAN	110	V	M	Polymorphism	-
P41159	LEP_HUMAN	94	V	M	Polymorphism	-
P41161	ETV5_HUMAN	348	K	R	Polymorphism	-
P41180	CASR_HUMAN	670	G	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	116	A	T	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	557	G	E	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	571	G	W	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	21	G	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	795	R	W	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	623	G	D	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	11	L	S	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	990	R	G	Polymorphism	-
P41180	CASR_HUMAN	612	F	S	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	143	G	E	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	562	C	Y	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	47	K	N	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	14	T	A	Polymorphism	-
P41180	CASR_HUMAN	159	L	P	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	727	L	Q	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	551	R	K	Disease	Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
P41180	CASR_HUMAN	13	L	P	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	110	A	T	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	670	G	E	Disease	Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
P41180	CASR_HUMAN	136	P	L	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	465	R	Q	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	178	N	D	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	125	L	P	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	689	V	M	Disease	Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
P41180	CASR_HUMAN	118	N	K	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	459	Q	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	220	R	W	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	221	P	L	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	569	P	H	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	742	W	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	767	E	K	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	53	S	P	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	129	C	R	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	128	F	L	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	661	C	Y	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	172	R	G	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	158	G	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	143	G	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	657	S	Y	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	806	F	S	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	988	A	V	Disease	Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
P41180	CASR_HUMAN	297	E	K	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	748	P	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	728	V	F	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	122	S	C	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	225	K	T	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	582	C	F	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	131	C	W	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	221	P	S	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	549	G	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	215	D	G	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	227	R	Q	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	185	R	Q	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	227	R	L	Disease	Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
P41180	CASR_HUMAN	62	R	M	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	881	F	L	Disease	-
P41180	CASR_HUMAN	820	S	F	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	271	S	F	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	553	G	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	650	L	P	Disease	Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
P41180	CASR_HUMAN	851	C	S	Polymorphism	-
P41180	CASR_HUMAN	125	L	F	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	27	Q	R	Unclassified	-
P41180	CASR_HUMAN	565	C	G	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	1011	E	Q	Polymorphism	-
P41180	CASR_HUMAN	582	C	Y	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	582	C	Y	Disease	Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
P41180	CASR_HUMAN	39	P	A	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	138	T	M	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	228	E	K	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	843	A	E	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	397	G	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	42	F	S	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	555	I	V	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	681	Q	H	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	697	V	M	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	174	L	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	951	P	T	Polymorphism	-
P41180	CASR_HUMAN	986	A	S	Polymorphism	-
P41180	CASR_HUMAN	127	E	A	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	802	N	S	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	66	R	C	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	550	T	I	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	166	S	G	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	773	L	R	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	66	R	H	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	604	E	K	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	339	P	T	Unclassified	-
P41180	CASR_HUMAN	774	G	S	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	55	P	L	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	788	F	L	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	616	L	V	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	707	E	V	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	839	I	T	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	680	R	H	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	180	F	C	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	509	G	R	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	686	I	V	Disease	Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
P41180	CASR_HUMAN	191	E	K	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	81	I	M	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	681	Q	R	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	817	V	I	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	171	S	N	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	802	N	I	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	886	R	W	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	988	A	G	Disease	Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
P41180	CASR_HUMAN	830	G	S	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	832	F	S	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	100	T	I	Disease	Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
P41180	CASR_HUMAN	354	E	A	Disease	Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
P41180	CASR_HUMAN	832	F	L	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	151	T	M	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	898	R	Q	Disease	Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
P41180	CASR_HUMAN	221	P	Q	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180	CASR_HUMAN	250	E	K	Polymorphism	-
P41180	CASR_HUMAN	788	F	C	Disease	Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180	CASR_HUMAN	972	T	M	Disease	Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41181	AQP2_HUMAN	68	N	S	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	70	A	D	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	187	R	H	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	100	G	R	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	216	S	P	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	64	G	R	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	202	W	C	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	258	E	K	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	108	T	M	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	147	A	T	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	254	R	Q	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	22	L	V	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	175	G	R	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	47	A	V	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	187	R	C	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	254	R	L	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	262	P	L	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	185	P	A	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	28	L	P	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	121	L	F	Polymorphism	-
P41181	AQP2_HUMAN	71	V	M	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	180	G	S	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	181	C	W	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	194	V	I	Polymorphism	-
P41181	AQP2_HUMAN	100	G	V	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	126	T	M	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	125	T	M	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	57	Q	P	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	168	V	M	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41181	AQP2_HUMAN	190	A	T	Disease	Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
P41182	BCL6_HUMAN	676	H	Y	Polymorphism	-
P41182	BCL6_HUMAN	493	A	T	Polymorphism	-
P41182	BCL6_HUMAN	252	N	S	Polymorphism	-
P41212	ETV6_HUMAN	369	R	Q	Disease	Thrombocytopenia 5 (THC5) [MIM:616216]
P41212	ETV6_HUMAN	399	R	C	Disease	Thrombocytopenia 5 (THC5) [MIM:616216]
P41212	ETV6_HUMAN	214	P	L	Disease	Thrombocytopenia 5 (THC5) [MIM:616216]
P41214	EIF2D_HUMAN	210	T	I	Polymorphism	-
P41217	OX2G_HUMAN	11	S	C	Polymorphism	-
P41217	OX2G_HUMAN	76	V	G	Polymorphism	-
P41217	OX2G_HUMAN	46	P	T	Polymorphism	-
P41218	MNDA_HUMAN	357	H	Y	Polymorphism	-
P41218	MNDA_HUMAN	286	V	L	Polymorphism	-
P41218	MNDA_HUMAN	156	S	R	Polymorphism	-
P41220	RGS2_HUMAN	2	Q	L	Polymorphism	-
P41220	RGS2_HUMAN	18	K	N	Polymorphism	-
P41220	RGS2_HUMAN	55	P	L	Polymorphism	-
P41220	RGS2_HUMAN	78	Q	H	Polymorphism	-
P41220	RGS2_HUMAN	3	S	G	Polymorphism	-
P41220	RGS2_HUMAN	50	Q	K	Polymorphism	-
P41220	RGS2_HUMAN	196	Q	R	Polymorphism	-
P41220	RGS2_HUMAN	23	G	D	Polymorphism	-
P41220	RGS2_HUMAN	40	D	Y	Polymorphism	-
P41220	RGS2_HUMAN	5	M	V	Polymorphism	-
P41220	RGS2_HUMAN	2	Q	R	Polymorphism	-
P41220	RGS2_HUMAN	4	A	V	Polymorphism	-
P41220	RGS2_HUMAN	99	A	G	Polymorphism	-
P41220	RGS2_HUMAN	110	I	V	Polymorphism	-
P41220	RGS2_HUMAN	44	R	H	Polymorphism	-
P41220	RGS2_HUMAN	188	R	H	Polymorphism	-
P41221	WNT5A_HUMAN	182	C	R	Disease	Robinow syndrome, autosomal dominant 1 (DRS1) [MIM:180700]
P41221	WNT5A_HUMAN	83	C	S	Disease	Robinow syndrome, autosomal dominant 1 (DRS1) [MIM:180700]
P41222	PTGDS_HUMAN	56	R	Q	Polymorphism	-
P41225	SOX3_HUMAN	43	A	T	Polymorphism	-
P41226	UBA7_HUMAN	712	P	S	Polymorphism	-
P41226	UBA7_HUMAN	817	H	R	Polymorphism	-
P41227	NAA10_HUMAN	37	S	P	Disease	N-terminal acetyltransferase deficiency (NATD) [MIM:300855]
P41227	NAA10_HUMAN	43	Y	S	Disease	N-terminal acetyltransferase deficiency (NATD) [MIM:300855]
P41229	KDM5C_HUMAN	751	Y	C	Disease	Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229	KDM5C_HUMAN	731	L	F	Disease	Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229	KDM5C_HUMAN	451	S	R	Disease	Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229	KDM5C_HUMAN	388	A	P	Disease	Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229	KDM5C_HUMAN	640	C	Y	Unclassified	-
P41229	KDM5C_HUMAN	642	F	L	Disease	Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229	KDM5C_HUMAN	480	P	L	Disease	Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229	KDM5C_HUMAN	87	D	G	Disease	Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229	KDM5C_HUMAN	402	D	Y	Disease	Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229	KDM5C_HUMAN	750	R	W	Disease	Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229	KDM5C_HUMAN	698	E	K	Disease	Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41231	P2RY2_HUMAN	334	R	C	Polymorphism	-
P41231	P2RY2_HUMAN	46	P	L	Polymorphism	-
P41231	P2RY2_HUMAN	312	R	S	Polymorphism	-
P41235	HNF4A_HUMAN	373	M	R	Disease	Maturity-onset diabetes of the young 1 (MODY1) [MIM:125850]
P41235	HNF4A_HUMAN	402	V	I	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P41235	HNF4A_HUMAN	139	T	I	Polymorphism	-
P41235	HNF4A_HUMAN	264	V	M	Polymorphism	-
P41235	HNF4A_HUMAN	136	R	W	Disease	Maturity-onset diabetes of the young 1 (MODY1) [MIM:125850]
P41235	HNF4A_HUMAN	453	V	I	Polymorphism	-
P41235	HNF4A_HUMAN	445	P	S	Polymorphism	-
P41235	HNF4A_HUMAN	85	R	W	Disease	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4) [MIM:616026]
P41235	HNF4A_HUMAN	285	E	Q	Disease	Maturity-onset diabetes of the young 1 (MODY1) [MIM:125850]
P41238	ABEC1_HUMAN	236	R	K	Polymorphism	-
P41238	ABEC1_HUMAN	80	M	I	Polymorphism	-
P41240	CSK_HUMAN	442	H	R	Polymorphism	-
P41240	CSK_HUMAN	287	G	D	Polymorphism	-
P41240	CSK_HUMAN	45	P	L	Polymorphism	-
P41240	CSK_HUMAN	398	R	Q	Polymorphism	-
P41247	PLPL4_HUMAN	113	V	I	Polymorphism	-
P41247	PLPL4_HUMAN	134	D	G	Polymorphism	-
P41247	PLPL4_HUMAN	187	R	Q	Polymorphism	-
P41247	PLPL4_HUMAN	48	V	G	Polymorphism	-
P41250	GARS_HUMAN	265	S	F	Disease	Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
P41250	GARS_HUMAN	334	I	F	Unclassified	Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
P41250	GARS_HUMAN	183	L	P	Disease	Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]
P41250	GARS_HUMAN	200	D	N	Disease	Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]
P41250	GARS_HUMAN	111	A	V	Disease	Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
P41250	GARS_HUMAN	268	T	I	Unclassified	-
P41250	GARS_HUMAN	554	D	N	Disease	Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
P41250	GARS_HUMAN	388	R	Q	Polymorphism	-
P41250	GARS_HUMAN	310	R	Q	Disease	-
P41250	GARS_HUMAN	265	S	F	Disease	Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]
P41250	GARS_HUMAN	298	P	L	Disease	Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
P41250	GARS_HUMAN	125	E	G	Disease	Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
P41250	GARS_HUMAN	652	G	A	Disease	Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
P41250	GARS_HUMAN	200	D	N	Disease	Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
P41250	GARS_HUMAN	635	S	L	Polymorphism	-
P41250	GARS_HUMAN	412	R	C	Unclassified	-
P41250	GARS_HUMAN	472	H	R	Disease	Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]
P41250	GARS_HUMAN	294	G	R	Disease	Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
P41250	GARS_HUMAN	292	M	R	Disease	Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
P41250	GARS_HUMAN	598	G	A	Unclassified	Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]
P41250	GARS_HUMAN	580	G	R	Disease	Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]
P41250	GARS_HUMAN	200	D	Y	Disease	Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
P41250	GARS_HUMAN	42	P	A	Polymorphism	-
P41252	SYIC_HUMAN	1182	K	E	Polymorphism	-
P41252	SYIC_HUMAN	437	P	L	Disease	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093]
P41252	SYIC_HUMAN	370	V	G	Disease	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093]
P41252	SYIC_HUMAN	302	N	Y	Polymorphism	-
P41252	SYIC_HUMAN	992	N	D	Disease	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093]
P41252	SYIC_HUMAN	769	M	I	Polymorphism	-
P41252	SYIC_HUMAN	1188	M	T	Polymorphism	-
P41252	SYIC_HUMAN	684	T	M	Polymorphism	-
P41252	SYIC_HUMAN	1174	I	N	Disease	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093]
P41273	TNFL9_HUMAN	17	P	A	Polymorphism	-
P41279	M3K8_HUMAN	214	S	F	Polymorphism	-
P41440	S19A1_HUMAN	558	A	V	Polymorphism	-
P41440	S19A1_HUMAN	27	H	R	Polymorphism	-
P41567	EIF1_HUMAN	59	L	P	Polymorphism	-
P41567	EIF1_HUMAN	90	R	G	Polymorphism	-
P41587	VIPR2_HUMAN	39	A	T	Polymorphism	-
P41587	VIPR2_HUMAN	412	R	H	Polymorphism	-
P41595	5HT2B_HUMAN	388	R	W	Polymorphism	-
P41595	5HT2B_HUMAN	421	M	V	Polymorphism	-
P41595	5HT2B_HUMAN	173	F	L	Polymorphism	-
P41595	5HT2B_HUMAN	45	Q	E	Polymorphism	-
P41597	CCR2_HUMAN	45	L	V	Polymorphism	-
P41597	CCR2_HUMAN	355	G	E	Polymorphism	-
P41597	CCR2_HUMAN	64	V	I	Polymorphism	-
P41732	TSN7_HUMAN	127	A	T	Polymorphism	-
P41732	TSN7_HUMAN	53	E	K	Polymorphism	-
P41732	TSN7_HUMAN	172	P	H	Disease	Mental retardation, X-linked 58 (MRX58) [MIM:300210]
P41743	KPCI_HUMAN	118	P	L	Unclassified	A metastatic melanoma sample
P41743	KPCI_HUMAN	130	R	C	Polymorphism	-
P41968	MC3R_HUMAN	146	I	N	Polymorphism	-
P41968	MC3R_HUMAN	44	V	I	Polymorphism	-
P41968	MC3R_HUMAN	298	I	S	Polymorphism	-
P41970	ELK3_HUMAN	169	P	L	Polymorphism	-
P42025	ACTY_HUMAN	143	A	V	Polymorphism	-
P42025	ACTY_HUMAN	93	V	A	Polymorphism	-
P42081	CD86_HUMAN	323	D	N	Polymorphism	-
P42081	CD86_HUMAN	170	S	N	Polymorphism	-
P42081	CD86_HUMAN	310	A	T	Polymorphism	-
P42081	CD86_HUMAN	185	V	I	Polymorphism	-
P42127	ASIP_HUMAN	13	V	A	Polymorphism	-
P42127	ASIP_HUMAN	61	Q	P	Polymorphism	-
P42166	LAP2A_HUMAN	293	S	A	Polymorphism	-
P42166	LAP2A_HUMAN	599	Q	E	Polymorphism	-
P42166	LAP2A_HUMAN	690	R	C	Polymorphism	-
P42166	LAP2A_HUMAN	317	T	S	Polymorphism	-
P42166	LAP2A_HUMAN	238	L	R	Polymorphism	-
P42166	LAP2A_HUMAN	478	K	N	Polymorphism	-
P42166	LAP2A_HUMAN	416	K	E	Polymorphism	-
P42167	LAP2B_HUMAN	287	A	P	Polymorphism	-
P42167	LAP2B_HUMAN	427	L	F	Polymorphism	-
P42224	STAT1_HUMAN	285	Q	R	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	288	T	A	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	202	M	V	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	274	R	W	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	701	Y	C	Disease	Immunodeficiency 31B (IMD31B) [MIM:613796]
P42224	STAT1_HUMAN	385	T	M	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	673	K	R	Disease	Immunodeficiency 31A (IMD31A) [MIM:614892]
P42224	STAT1_HUMAN	286	K	I	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	165	D	G	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	202	M	I	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	165	D	H	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	637	K	E	Disease	Immunodeficiency 31A (IMD31A) [MIM:614892]
P42224	STAT1_HUMAN	170	Y	N	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	267	A	V	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	298	K	N	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	600	L	P	Disease	Immunodeficiency 31B (IMD31B) [MIM:613796]
P42224	STAT1_HUMAN	271	Q	P	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	201	K	N	Disease	Immunodeficiency 31B (IMD31B) [MIM:613796]
P42224	STAT1_HUMAN	30	I	T	Polymorphism	-
P42224	STAT1_HUMAN	179	N	K	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	274	R	Q	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	384	G	D	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	491	P	A	Unclassified	A breast cancer sample
P42224	STAT1_HUMAN	706	L	S	Disease	Immunodeficiency 31A (IMD31A) [MIM:614892]
P42224	STAT1_HUMAN	174	C	R	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	320	E	Q	Disease	Immunodeficiency 31A (IMD31A) [MIM:614892]
P42224	STAT1_HUMAN	278	K	E	Disease	Immunodeficiency 31C (IMD31C) [MIM:614162]
P42224	STAT1_HUMAN	463	Q	H	Disease	Immunodeficiency 31A (IMD31A) [MIM:614892]
P42226	STAT6_HUMAN	419	D	N	Polymorphism	-
P42226	STAT6_HUMAN	181	M	R	Polymorphism	-
P42229	STA5A_HUMAN	389	R	H	Polymorphism	-
P42261	GRIA1_HUMAN	536	A	S	Polymorphism	-
P42261	GRIA1_HUMAN	521	P	T	Polymorphism	-
P42261	GRIA1_HUMAN	487	D	N	Polymorphism	-
P42261	GRIA1_HUMAN	588	F	L	Polymorphism	-
P42261	GRIA1_HUMAN	548	I	M	Polymorphism	-
P42261	GRIA1_HUMAN	636	A	T	Unclassified	-
P42262	GRIA2_HUMAN	607	Q	R	Polymorphism	-
P42262	GRIA2_HUMAN	608	Q	R	Polymorphism	-
P42263	GRIA3_HUMAN	525	F	L	Polymorphism	-
P42263	GRIA3_HUMAN	706	M	T	Disease	Mental retardation, X-linked 94 (MRX94) [MIM:300699]
P42263	GRIA3_HUMAN	631	R	S	Disease	Mental retardation, X-linked 94 (MRX94) [MIM:300699]
P42263	GRIA3_HUMAN	450	R	Q	Disease	Mental retardation, X-linked 94 (MRX94) [MIM:300699]
P42263	GRIA3_HUMAN	224	E	K	Unclassified	-
P42263	GRIA3_HUMAN	833	G	R	Disease	Mental retardation, X-linked 94 (MRX94) [MIM:300699]
P42285	MTREX_HUMAN	346	A	P	Polymorphism	-
P42330	AK1C3_HUMAN	66	R	Q	Polymorphism	-
P42330	AK1C3_HUMAN	180	P	S	Polymorphism	-
P42330	AK1C3_HUMAN	175	M	I	Polymorphism	-
P42330	AK1C3_HUMAN	77	E	G	Polymorphism	-
P42330	AK1C3_HUMAN	170	R	C	Polymorphism	-
P42330	AK1C3_HUMAN	5	H	Q	Polymorphism	-
P42331	RHG25_HUMAN	192	R	W	Polymorphism	-
P42331	RHG25_HUMAN	556	M	T	Polymorphism	-
P42331	RHG25_HUMAN	555	R	S	Polymorphism	-
P42336	PK3CA_HUMAN	453	E	Q	Disease	Colorectal cancer (CRC) [MIM:114500]
P42336	PK3CA_HUMAN	420	C	R	Unclassified	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918]
P42336	PK3CA_HUMAN	43	I	V	Polymorphism	-
P42336	PK3CA_HUMAN	420	C	R	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P42336	PK3CA_HUMAN	542	E	K	Unclassified	Breast cancer (BC) [MIM:114480]
P42336	PK3CA_HUMAN	546	Q	R	Unclassified	Breast cancer (BC) [MIM:114480]
P42336	PK3CA_HUMAN	343	Y	C	Unclassified	-
P42336	PK3CA_HUMAN	542	E	K	Unclassified	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918]
P42336	PK3CA_HUMAN	1047	H	R	Unclassified	Keratosis, seborrheic (KERSEB) [MIM:182000]
P42336	PK3CA_HUMAN	1021	Y	N	Unclassified	-
P42336	PK3CA_HUMAN	420	C	R	Unclassified	CLAPO syndrome (CLAPO) [MIM:613089]
P42336	PK3CA_HUMAN	545	E	A	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
P42336	PK3CA_HUMAN	391	I	M	Polymorphism	-
P42336	PK3CA_HUMAN	1065	H	Y	Unclassified	-
P42336	PK3CA_HUMAN	378	C	Y	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	542	E	K	Unclassified	CLAPO syndrome (CLAPO) [MIM:613089]
P42336	PK3CA_HUMAN	546	Q	K	Unclassified	Ovarian cancer (OC) [MIM:167000]
P42336	PK3CA_HUMAN	545	E	K	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	545	E	A	Disease	Cowden syndrome 5 (CWS5) [MIM:615108]
P42336	PK3CA_HUMAN	1065	H	L	Unclassified	-
P42336	PK3CA_HUMAN	1007	G	R	Unclassified	-
P42336	PK3CA_HUMAN	1047	H	Y	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	365	E	K	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	1043	M	I	Disease	Colorectal cancer (CRC) [MIM:114500]
P42336	PK3CA_HUMAN	1047	H	R	Unclassified	Ovarian cancer (OC) [MIM:167000]
P42336	PK3CA_HUMAN	1047	H	L	Unclassified	Macrodactyly (MADAC) [MIM:155500]
P42336	PK3CA_HUMAN	542	E	V	Unclassified	Breast cancer (BC) [MIM:114480]
P42336	PK3CA_HUMAN	545	E	K	Disease	Breast cancer (BC) [MIM:114480]
P42336	PK3CA_HUMAN	542	E	K	Unclassified	Keratosis, seborrheic (KERSEB) [MIM:182000]
P42336	PK3CA_HUMAN	542	E	Q	Unclassified	-
P42336	PK3CA_HUMAN	546	Q	P	Unclassified	-
P42336	PK3CA_HUMAN	542	E	K	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P42336	PK3CA_HUMAN	542	E	K	Unclassified	Macrodactyly (MADAC) [MIM:155500]
P42336	PK3CA_HUMAN	1025	T	A	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	1047	H	L	Unclassified	Breast cancer (BC) [MIM:114480]
P42336	PK3CA_HUMAN	218	E	K	Disease	Cowden syndrome 5 (CWS5) [MIM:615108]
P42336	PK3CA_HUMAN	1047	H	R	Unclassified	Breast cancer (BC) [MIM:114480]
P42336	PK3CA_HUMAN	332	S	R	Polymorphism	-
P42336	PK3CA_HUMAN	1025	T	N	Unclassified	-
P42336	PK3CA_HUMAN	545	E	G	Disease	Keratosis, seborrheic (KERSEB) [MIM:182000]
P42336	PK3CA_HUMAN	1023	R	Q	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P42336	PK3CA_HUMAN	1021	Y	C	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	115	R	P	Unclassified	Macrodactyly (MADAC) [MIM:155500]
P42336	PK3CA_HUMAN	546	Q	E	Unclassified	Breast cancer (BC) [MIM:114480]
P42336	PK3CA_HUMAN	1047	H	L	Unclassified	CLAPO syndrome (CLAPO) [MIM:613089]
P42336	PK3CA_HUMAN	83	F	S	Unclassified	CLAPO syndrome (CLAPO) [MIM:613089]
P42336	PK3CA_HUMAN	1047	H	R	Unclassified	Macrodactyly (MADAC) [MIM:155500]
P42336	PK3CA_HUMAN	382	R	K	Disease	Cowden syndrome 5 (CWS5) [MIM:615108]
P42336	PK3CA_HUMAN	1049	G	S	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	1047	H	R	Unclassified	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918]
P42336	PK3CA_HUMAN	81	E	K	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	1047	H	R	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P42336	PK3CA_HUMAN	356	V	I	Disease	Cowden syndrome 5 (CWS5) [MIM:615108]
P42336	PK3CA_HUMAN	1021	Y	H	Unclassified	-
P42336	PK3CA_HUMAN	38	R	H	Disease	Colorectal cancer (CRC) [MIM:114500]
P42336	PK3CA_HUMAN	545	E	K	Disease	Keratosis, seborrheic (KERSEB) [MIM:182000]
P42336	PK3CA_HUMAN	1043	M	I	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	364	G	R	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	726	E	K	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	118	G	D	Disease	Cowden syndrome 5 (CWS5) [MIM:615108]
P42336	PK3CA_HUMAN	1035	A	V	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	88	R	Q	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	135	E	K	Disease	Cowden syndrome 5 (CWS5) [MIM:615108]
P42336	PK3CA_HUMAN	1052	T	K	Unclassified	-
P42336	PK3CA_HUMAN	106	G	V	Disease	Colorectal cancer (CRC) [MIM:114500]
P42336	PK3CA_HUMAN	914	G	R	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	115	R	P	Unclassified	CLAPO syndrome (CLAPO) [MIM:613089]
P42336	PK3CA_HUMAN	112	I	N	Disease	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336	PK3CA_HUMAN	545	E	K	Disease	Colorectal cancer (CRC) [MIM:114500]
P42336	PK3CA_HUMAN	1050	G	D	Unclassified	-
P42338	PK3CB_HUMAN	672	Q	H	Polymorphism	-
P42345	MTOR_HUMAN	1134	A	V	Polymorphism	-
P42345	MTOR_HUMAN	1459	A	D	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	1459	A	S	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	2220	L	F	Unclassified	-
P42345	MTOR_HUMAN	2215	S	Y	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	1460	L	P	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	2406	V	A	Unclassified	-
P42345	MTOR_HUMAN	1450	Y	D	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	2501	I	V	Unclassified	-
P42345	MTOR_HUMAN	1799	E	K	Disease	Smith-Kingsmore syndrome (SKS) [MIM:616638]
P42345	MTOR_HUMAN	2011	M	V	Unclassified	An ovarian mucinous carcinoma sample
P42345	MTOR_HUMAN	1178	S	F	Polymorphism	-
P42345	MTOR_HUMAN	1977	T	K	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	1888	F	C	Disease	Smith-Kingsmore syndrome (SKS) [MIM:616638]
P42345	MTOR_HUMAN	1709	R	H	Unclassified	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	1490	W	R	Disease	Smith-Kingsmore syndrome (SKS) [MIM:616638]
P42345	MTOR_HUMAN	1376	D	E	Unclassified	-
P42345	MTOR_HUMAN	2327	M	I	Disease	Smith-Kingsmore syndrome (SKS) [MIM:616638]
P42345	MTOR_HUMAN	2427	L	P	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	2476	P	L	Unclassified	A glioblastoma multiforme sample
P42345	MTOR_HUMAN	2215	S	F	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	1832	A	T	Disease	Smith-Kingsmore syndrome (SKS) [MIM:616638]
P42345	MTOR_HUMAN	1083	M	V	Polymorphism	-
P42345	MTOR_HUMAN	2193	R	C	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	1483	C	R	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	135	M	T	Unclassified	A metastatic melanoma sample
P42345	MTOR_HUMAN	1595	M	I	Disease	Smith-Kingsmore syndrome (SKS) [MIM:616638]
P42345	MTOR_HUMAN	624	R	H	Unclassified	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	2427	L	Q	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	1456	W	G	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P42345	MTOR_HUMAN	8	A	S	Unclassified	A lung large cell carcinoma sample
P42356	PI4KA_HUMAN	1851	V	L	Polymorphism	-
P42356	PI4KA_HUMAN	380	M	V	Polymorphism	-
P42356	PI4KA_HUMAN	1854	D	N	Disease	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PMGYCHA) [MIM:616531]
P42357	HUTH_HUMAN	259	P	L	Disease	Histidinemia (HISTID) [MIM:235800]
P42357	HUTH_HUMAN	208	R	L	Disease	Histidinemia (HISTID) [MIM:235800]
P42357	HUTH_HUMAN	439	V	I	Polymorphism	-
P42357	HUTH_HUMAN	206	R	T	Disease	Histidinemia (HISTID) [MIM:235800]
P42357	HUTH_HUMAN	322	R	P	Disease	Histidinemia (HISTID) [MIM:235800]
P42566	EPS15_HUMAN	822	I	M	Polymorphism	-
P42574	CASP3_HUMAN	22	H	R	Polymorphism	-
P42574	CASP3_HUMAN	190	E	D	Polymorphism	-
P42575	CASP2_HUMAN	178	P	A	Polymorphism	-
P42575	CASP2_HUMAN	172	V	L	Polymorphism	-
P42575	CASP2_HUMAN	441	R	G	Polymorphism	-
P42575	CASP2_HUMAN	105	A	G	Polymorphism	-
P42658	DPP6_HUMAN	854	L	P	Polymorphism	-
P42658	DPP6_HUMAN	385	M	L	Disease	Mental retardation, autosomal dominant 33 (MRD33) [MIM:616311]
P42679	MATK_HUMAN	503	R	Q	Unclassified	A colorectal adenocarcinoma sample
P42679	MATK_HUMAN	354	A	T	Unclassified	An ovarian mucinous carcinoma sample
P42679	MATK_HUMAN	496	A	T	Polymorphism	-
P42680	TEC_HUMAN	563	R	K	Unclassified	A lung adenocarcinoma sample
P42680	TEC_HUMAN	44	R	Q	Polymorphism	-
P42681	TXK_HUMAN	63	R	C	Polymorphism	-
P42681	TXK_HUMAN	45	R	H	Polymorphism	-
P42681	TXK_HUMAN	336	R	Q	Polymorphism	-
P42684	ABL2_HUMAN	78	R	H	Polymorphism	-
P42684	ABL2_HUMAN	769	T	S	Polymorphism	-
P42684	ABL2_HUMAN	519	R	I	Unclassified	-
P42684	ABL2_HUMAN	1101	T	A	Polymorphism	-
P42684	ABL2_HUMAN	1085	S	N	Polymorphism	-
P42684	ABL2_HUMAN	946	V	M	Polymorphism	-
P42684	ABL2_HUMAN	99	E	Q	Unclassified	-
P42684	ABL2_HUMAN	996	P	R	Polymorphism	-
P42684	ABL2_HUMAN	930	K	R	Polymorphism	-
P42685	FRK_HUMAN	122	G	R	Polymorphism	-
P42685	FRK_HUMAN	133	S	L	Polymorphism	-
P42685	FRK_HUMAN	100	I	V	Polymorphism	-
P42694	HELZ_HUMAN	74	V	M	Polymorphism	-
P42694	HELZ_HUMAN	1530	A	V	Polymorphism	-
P42694	HELZ_HUMAN	48	C	R	Polymorphism	-
P42695	CNDD3_HUMAN	1034	S	R	Polymorphism	-
P42695	CNDD3_HUMAN	622	R	Q	Polymorphism	-
P42695	CNDD3_HUMAN	907	P	T	Polymorphism	-
P42695	CNDD3_HUMAN	1153	E	A	Disease	Microcephaly 22, primary, autosomal recessive (MCPH22) [MIM:617984]
P42701	I12R1_HUMAN	214	Q	R	Polymorphism	-
P42701	I12R1_HUMAN	365	M	T	Polymorphism	-
P42701	I12R1_HUMAN	3	P	Q	Polymorphism	-
P42701	I12R1_HUMAN	378	G	R	Polymorphism	-
P42701	I12R1_HUMAN	156	R	H	Polymorphism	-
P42701	I12R1_HUMAN	47	P	S	Polymorphism	-
P42701	I12R1_HUMAN	339	H	Q	Polymorphism	-
P42701	I12R1_HUMAN	213	R	W	Disease	Immunodeficiency 30 (IMD30) [MIM:614891]
P42702	LIFR_HUMAN	1068	F	L	Unclassified	A colorectal cancer sample
P42702	LIFR_HUMAN	664	S	L	Polymorphism	-
P42702	LIFR_HUMAN	116	H	Y	Polymorphism	-
P42702	LIFR_HUMAN	578	D	N	Polymorphism	-
P42702	LIFR_HUMAN	633	I	M	Polymorphism	-
P42702	LIFR_HUMAN	279	S	P	Disease	Stueve-Wiedemann syndrome (STWS) [MIM:601559]
P42702	LIFR_HUMAN	785	V	I	Polymorphism	-
P42704	LPPRC_HUMAN	354	A	V	Disease	Leigh syndrome French-Canadian type (LSFC) [MIM:220111]
P42704	LPPRC_HUMAN	478	T	A	Polymorphism	-
P42765	THIM_HUMAN	217	M	V	Polymorphism	-
P42766	RL35_HUMAN	77	K	N	Unclassified	Diamond-Blackfan anemia 19 (DBA19) [MIM:618312]
P42768	WASP_HUMAN	86	R	C	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	58	P	L	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	27	L	F	Disease	Thrombocytopenia 1 (THC1) [MIM:313900]
P42768	WASP_HUMAN	187	G	C	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	43	C	W	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	97	W	C	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	58	P	R	Disease	Thrombocytopenia 1 (THC1) [MIM:313900]
P42768	WASP_HUMAN	45	T	M	Disease	Thrombocytopenia 1 (THC1) [MIM:313900]
P42768	WASP_HUMAN	270	L	P	Disease	Neutropenia, severe congenital, X-linked (XLN) [MIM:300299]
P42768	WASP_HUMAN	82	S	P	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	45	T	M	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	481	I	N	Disease	Thrombocytopenia 1 (THC1) [MIM:313900]
P42768	WASP_HUMAN	52	Q	H	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	75	V	M	Disease	Thrombocytopenia 1 (THC1) [MIM:313900]
P42768	WASP_HUMAN	86	R	H	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	134	A	T	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	31	E	K	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	131	E	K	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	83	Y	C	Disease	Thrombocytopenia 1 (THC1) [MIM:313900]
P42768	WASP_HUMAN	477	R	K	Disease	Thrombocytopenia 1 (THC1) [MIM:313900]
P42768	WASP_HUMAN	56	A	T	Unclassified	-
P42768	WASP_HUMAN	86	R	L	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	133	E	K	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	70	G	W	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	56	A	V	Disease	Thrombocytopenia 1 (THC1) [MIM:313900]
P42768	WASP_HUMAN	236	A	E	Disease	Thrombocytopenia 1 (THC1) [MIM:313900]
P42768	WASP_HUMAN	48	T	I	Disease	Thrombocytopenia 1 (THC1) [MIM:313900]
P42768	WASP_HUMAN	84	F	L	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	476	K	E	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	89	G	D	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42768	WASP_HUMAN	73	C	R	Disease	Wiskott-Aldrich syndrome (WAS) [MIM:301000]
P42771	CDN2A_HUMAN	77	T	P	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	35	G	A	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	101	G	W	Disease	Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719]
P42771	CDN2A_HUMAN	48	P	L	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	69	E	G	Polymorphism	-
P42771	CDN2A_HUMAN	24	R	Q	Polymorphism	-
P42771	CDN2A_HUMAN	50	Q	R	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	122	G	R	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	35	G	E	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	114	P	S	Polymorphism	-
P42771	CDN2A_HUMAN	123	H	Q	Unclassified	Leukemia
P42771	CDN2A_HUMAN	26	E	D	Unclassified	A biliary tract tumor
P42771	CDN2A_HUMAN	124	R	C	Polymorphism	-
P42771	CDN2A_HUMAN	49	I	S	Unclassified	A biliary tract tumor
P42771	CDN2A_HUMAN	35	G	V	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	83	H	Q	Polymorphism	-
P42771	CDN2A_HUMAN	99	R	W	Polymorphism	-
P42771	CDN2A_HUMAN	57	A	V	Unclassified	Pancreas carcinoma
P42771	CDN2A_HUMAN	49	I	T	Polymorphism	-
P42771	CDN2A_HUMAN	74	D	N	Unclassified	A bladder tumor
P42771	CDN2A_HUMAN	120	E	K	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	23	G	D	Unclassified	A pancreas tumor
P42771	CDN2A_HUMAN	94	L	Q	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	142	H	Y	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	72	C	G	Unclassified	An esophagus tumor
P42771	CDN2A_HUMAN	24	R	P	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	148	A	T	Polymorphism	-
P42771	CDN2A_HUMAN	102	A	E	Polymorphism	-
P42771	CDN2A_HUMAN	101	G	W	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	100	A	L	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	60	A	V	Unclassified	Melanoma
P42771	CDN2A_HUMAN	108	D	H	Unclassified	A bladder tumor
P42771	CDN2A_HUMAN	102	A	T	Polymorphism	-
P42771	CDN2A_HUMAN	122	G	S	Unclassified	A biliary tract tumor
P42771	CDN2A_HUMAN	126	V	D	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	100	A	P	Polymorphism	-
P42771	CDN2A_HUMAN	144	R	C	Unclassified	Squamous cell carcinoma
P42771	CDN2A_HUMAN	71	N	K	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	69	E	K	Unclassified	A bladder tumor
P42771	CDN2A_HUMAN	124	R	H	Unclassified	An esophagus tumor
P42771	CDN2A_HUMAN	84	D	N	Unclassified	An esophagus tumor
P42771	CDN2A_HUMAN	80	R	P	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	108	D	Y	Unclassified	Neck tumor
P42771	CDN2A_HUMAN	33	E	D	Unclassified	A biliary tract tumor
P42771	CDN2A_HUMAN	67	G	R	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	107	R	C	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	132	A	P	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	134	A	V	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	119	E	Q	Unclassified	A biliary tract tumor
P42771	CDN2A_HUMAN	150	G	V	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	16	L	P	Unclassified	A biliary tract tumor
P42771	CDN2A_HUMAN	69	E	V	Unclassified	A lung tumor
P42771	CDN2A_HUMAN	66	H	Y	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	81	P	L	Unclassified	Some patients with melanoma
P42771	CDN2A_HUMAN	32	L	P	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	59	V	G	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	74	D	Y	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	24	R	C	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	89	G	D	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	99	R	P	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	127	A	S	Unclassified	Squamous cell carcinoma
P42771	CDN2A_HUMAN	16	L	P	Unclassified	A familial melanoma
P42771	CDN2A_HUMAN	14	D	E	Unclassified	A biliary tract tumor
P42771	CDN2A_HUMAN	20	A	P	Unclassified	Melanoma
P42771	CDN2A_HUMAN	62	L	P	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	71	N	S	Polymorphism	-
P42771	CDN2A_HUMAN	84	D	E	Unclassified	A bladder tumor
P42771	CDN2A_HUMAN	68	A	T	Unclassified	An esophagus tumor
P42771	CDN2A_HUMAN	53	M	I	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	81	P	T	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	114	P	L	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	99	R	Q	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	87	R	W	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	95	V	A	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	89	G	S	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	60	A	T	Polymorphism	-
P42771	CDN2A_HUMAN	20	A	S	Unclassified	A biliary tract tumor
P42771	CDN2A_HUMAN	20	A	P	Unclassified	A lung tumor
P42771	CDN2A_HUMAN	88	E	D	Unclassified	A biliary tract tumor
P42771	CDN2A_HUMAN	85	A	T	Polymorphism	-
P42771	CDN2A_HUMAN	80	R	L	Unclassified	Neck tumor
P42771	CDN2A_HUMAN	118	A	T	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	93	T	A	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	107	R	H	Polymorphism	-
P42771	CDN2A_HUMAN	23	G	D	Unclassified	A melanoma
P42771	CDN2A_HUMAN	120	E	A	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	84	D	Y	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	117	L	M	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	98	H	P	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	68	A	V	Polymorphism	-
P42771	CDN2A_HUMAN	68	A	L	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	83	H	Y	Unclassified	A pancreas tumor
P42771	CDN2A_HUMAN	56	S	I	Polymorphism	-
P42771	CDN2A_HUMAN	74	D	V	Unclassified	A biliary tract tumor
P42771	CDN2A_HUMAN	84	D	H	Unclassified	Non-small cell lung carcinoma
P42771	CDN2A_HUMAN	97	L	R	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	98	H	Q	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	87	R	P	Disease	Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771	CDN2A_HUMAN	83	H	N	Unclassified	A lung tumor
P42772	CDN2B_HUMAN	47	G	E	Unclassified	Lung adenocarcinoma
P42772	CDN2B_HUMAN	50	A	V	Unclassified	Lung adenocarcinoma
P42773	CDN2C_HUMAN	126	T	M	Polymorphism	-
P42773	CDN2C_HUMAN	72	A	P	Unclassified	Breast cancer
P42785	PCP_HUMAN	444	T	S	Polymorphism	-
P42785	PCP_HUMAN	112	E	D	Polymorphism	-
P42858	HD_HUMAN	2786	V	I	Polymorphism	-
P42858	HD_HUMAN	1173	T	A	Polymorphism	-
P42858	HD_HUMAN	1720	T	N	Polymorphism	-
P42858	HD_HUMAN	1382	E	A	Polymorphism	-
P42858	HD_HUMAN	2717	F	L	Disease	Lopes-Maciel-Rodan syndrome (LOMARS) [MIM:617435]
P42858	HD_HUMAN	1385	N	H	Polymorphism	-
P42858	HD_HUMAN	1260	T	M	Unclassified	-
P42858	HD_HUMAN	2309	Y	H	Polymorphism	-
P42858	HD_HUMAN	703	P	L	Disease	Lopes-Maciel-Rodan syndrome (LOMARS) [MIM:617435]
P42858	HD_HUMAN	1064	V	I	Polymorphism	-
P42858	HD_HUMAN	2113	D	Y	Polymorphism	-
P42858	HD_HUMAN	551	G	E	Polymorphism	-
P42858	HD_HUMAN	893	G	R	Polymorphism	-
P42858	HD_HUMAN	1091	I	M	Polymorphism	-
P42892	ECE1_HUMAN	341	T	I	Polymorphism	-
P42892	ECE1_HUMAN	754	R	C	Disease	Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD) [MIM:613870]
P42898	MTHR_HUMAN	51	R	P	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	227	T	M	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	59	W	S	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	594	R	Q	Polymorphism	-
P42898	MTHR_HUMAN	251	P	L	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	586	E	K	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	82	R	W	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	429	E	A	Polymorphism	-
P42898	MTHR_HUMAN	68	R	Q	Polymorphism	-
P42898	MTHR_HUMAN	46	R	Q	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	127	H	Y	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	183	R	Q	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	572	P	L	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	222	A	V	Polymorphism	-
P42898	MTHR_HUMAN	335	R	C	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	113	A	T	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	218	V	L	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	157	R	Q	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	387	G	D	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	324	N	S	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	46	R	W	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	52	R	Q	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	325	R	C	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	253	V	F	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	196	G	D	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	323	L	P	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	195	A	V	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	256	I	N	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	598	L	P	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	519	R	C	Polymorphism	-
P42898	MTHR_HUMAN	255	G	V	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	225	I	L	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	348	P	S	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	339	W	G	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	422	G	R	Polymorphism	-
P42898	MTHR_HUMAN	506	Y	D	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	335	R	H	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	435	F	S	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	363	R	H	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	354	H	Y	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	574	V	G	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	338	M	T	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	519	R	H	Polymorphism	-
P42898	MTHR_HUMAN	357	R	C	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	372	K	E	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	175	A	T	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	536	V	F	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	130	C	R	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	149	G	V	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	257	F	V	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	254	P	S	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	628	L	P	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	68	R	G	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	653	T	M	Polymorphism	-
P42898	MTHR_HUMAN	147	Q	P	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	566	G	E	Polymorphism	-
P42898	MTHR_HUMAN	470	E	A	Polymorphism	-
P42898	MTHR_HUMAN	377	R	H	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	153	I	M	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	421	W	S	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	129	T	N	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	377	R	C	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P42898	MTHR_HUMAN	575	V	G	Disease	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
P43003	EAA1_HUMAN	219	E	D	Polymorphism	-
P43003	EAA1_HUMAN	290	P	R	Disease	Episodic ataxia 6 (EA6) [MIM:612656]
P43004	EAA2_HUMAN	82	G	R	Disease	Epileptic encephalopathy, early infantile, 41 (EIEE41) [MIM:617105]
P43004	EAA2_HUMAN	289	P	R	Disease	Epileptic encephalopathy, early infantile, 41 (EIEE41) [MIM:617105]
P43004	EAA2_HUMAN	85	L	P	Disease	Epileptic encephalopathy, early infantile, 41 (EIEE41) [MIM:617105]
P43005	EAA3_HUMAN	445	R	W	Disease	Dicarboxylic aminoaciduria (DCBXA) [MIM:222730]
P43005	EAA3_HUMAN	27	A	G	Polymorphism	-
P43005	EAA3_HUMAN	50	F	Y	Polymorphism	-
P43007	SATT_HUMAN	457	R	W	Disease	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) [MIM:616657]
P43007	SATT_HUMAN	399	V	I	Polymorphism	-
P43007	SATT_HUMAN	256	E	K	Disease	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) [MIM:616657]
P43007	SATT_HUMAN	37	G	R	Polymorphism	-
P43026	GDF5_HUMAN	414	W	R	Disease	Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
P43026	GDF5_HUMAN	163	R	G	Polymorphism	-
P43026	GDF5_HUMAN	400	C	Y	Disease	Acromesomelic chondrodysplasia, Grebe type (AMDG) [MIM:200700]
P43026	GDF5_HUMAN	373	L	R	Disease	Symphalangism, proximal 1B (SYM1B) [MIM:615298]
P43026	GDF5_HUMAN	491	E	K	Disease	Symphalangism, proximal 1B (SYM1B) [MIM:615298]
P43026	GDF5_HUMAN	203	T	N	Disease	Brachydactyly C (BDC) [MIM:113100]
P43026	GDF5_HUMAN	380	R	Q	Disease	Brachydactyly A2 (BDA2) [MIM:112600]
P43026	GDF5_HUMAN	486	V	M	Disease	Brachydactyly C (BDC) [MIM:113100]
P43026	GDF5_HUMAN	441	L	P	Disease	Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
P43026	GDF5_HUMAN	438	R	L	Disease	Symphalangism, proximal 1B (SYM1B) [MIM:615298]
P43026	GDF5_HUMAN	439	S	T	Disease	Du Pan syndrome (DPS) [MIM:228900]
P43026	GDF5_HUMAN	276	S	A	Polymorphism	-
P43026	GDF5_HUMAN	399	R	C	Disease	Brachydactyly A1, C (BDA1C) [MIM:615072]
P43026	GDF5_HUMAN	263	L	P	Disease	Brachydactyly C (BDC) [MIM:113100]
P43026	GDF5_HUMAN	440	H	L	Disease	Du Pan syndrome (DPS) [MIM:228900]
P43026	GDF5_HUMAN	438	R	L	Disease	Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
P43026	GDF5_HUMAN	378	R	Q	Disease	Du Pan syndrome (DPS) [MIM:228900]
P43026	GDF5_HUMAN	445	N	K	Disease	Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
P43026	GDF5_HUMAN	445	N	T	Disease	Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
P43026	GDF5_HUMAN	441	L	P	Disease	Brachydactyly A2 (BDA2) [MIM:112600]
P43026	GDF5_HUMAN	414	W	R	Disease	Brachydactyly A1, C (BDA1C) [MIM:615072]
P43026	GDF5_HUMAN	441	L	P	Disease	Du Pan syndrome (DPS) [MIM:228900]
P43026	GDF5_HUMAN	201	T	P	Disease	Brachydactyly C (BDC) [MIM:113100]
P43026	GDF5_HUMAN	173	M	V	Disease	Brachydactyly C (BDC) [MIM:113100]
P43026	GDF5_HUMAN	436	P	T	Disease	Du Pan syndrome (DPS) [MIM:228900]
P43026	GDF5_HUMAN	475	S	N	Disease	Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
P43034	LIS1_HUMAN	317	D	H	Disease	Lissencephaly 1 (LIS1) [MIM:607432]
P43034	LIS1_HUMAN	31	F	S	Disease	Lissencephaly 1 (LIS1) [MIM:607432]
P43034	LIS1_HUMAN	149	H	R	Disease	Lissencephaly 1 (LIS1) [MIM:607432]
P43034	LIS1_HUMAN	169	S	P	Disease	Subcortical band heterotopia (SBH) [MIM:607432]
P43034	LIS1_HUMAN	162	G	S	Disease	Lissencephaly 1 (LIS1) [MIM:607432]
P43034	LIS1_HUMAN	241	R	P	Disease	Subcortical band heterotopia (SBH) [MIM:607432]
P43034	LIS1_HUMAN	277	H	P	Disease	Lissencephaly 1 (LIS1) [MIM:607432]
P43080	GUC1A_HUMAN	151	L	F	Disease	Cone dystrophy 3 (COD3) [MIM:602093]
P43080	GUC1A_HUMAN	114	T	I	Unclassified	-
P43080	GUC1A_HUMAN	50	P	L	Disease	Cone dystrophy 3 (COD3) [MIM:602093]
P43080	GUC1A_HUMAN	100	D	E	Disease	Cone dystrophy 3 (COD3) [MIM:602093]
P43080	GUC1A_HUMAN	159	G	V	Disease	Cone dystrophy 3 (COD3) [MIM:602093]
P43080	GUC1A_HUMAN	155	E	G	Disease	Cone dystrophy 3 (COD3) [MIM:602093]
P43080	GUC1A_HUMAN	89	E	K	Disease	Cone dystrophy 3 (COD3) [MIM:602093]
P43080	GUC1A_HUMAN	99	Y	C	Disease	Cone dystrophy 3 (COD3) [MIM:602093]
P43115	PE2R3_HUMAN	375	P	L	Polymorphism	-
P43115	PE2R3_HUMAN	169	M	L	Polymorphism	-
P43115	PE2R3_HUMAN	366	N	S	Polymorphism	-
P43115	PE2R3_HUMAN	319	T	M	Polymorphism	-
P43119	PI2R_HUMAN	319	S	W	Polymorphism	-
P43119	PI2R_HUMAN	25	V	M	Polymorphism	-
P43121	MUC18_HUMAN	89	E	G	Polymorphism	-
P43146	DCC_HUMAN	743	M	L	Unclassified	Mirror movements 1 (MRMV1) [MIM:157600]
P43146	DCC_HUMAN	754	V	M	Unclassified	Mirror movements 1 (MRMV1) [MIM:157600]
P43146	DCC_HUMAN	1375	P	H	Unclassified	A colorectal carcinoma
P43146	DCC_HUMAN	168	M	T	Unclassified	A esophageal carcinoma
P43146	DCC_HUMAN	1217	M	V	Unclassified	Mirror movements 1 (MRMV1) [MIM:157600]
P43146	DCC_HUMAN	793	V	G	Disease	Mirror movements 1 (MRMV1) [MIM:157600]
P43146	DCC_HUMAN	597	R	P	Unclassified	Mirror movements 1 (MRMV1) [MIM:157600]
P43146	DCC_HUMAN	893	A	T	Unclassified	Mirror movements 1 (MRMV1) [MIM:157600]
P43146	DCC_HUMAN	1017	M	V	Polymorphism	-
P43146	DCC_HUMAN	1039	F	S	Unclassified	A colorectal cancer sample
P43146	DCC_HUMAN	759	I	M	Polymorphism	-
P43146	DCC_HUMAN	691	Q	K	Unclassified	Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development (HGPPS2) [MIM:617542]
P43146	DCC_HUMAN	201	R	G	Polymorphism	-
P43146	DCC_HUMAN	1250	A	T	Unclassified	Mirror movements 1 (MRMV1) [MIM:157600]
P43146	DCC_HUMAN	1191	H	L	Polymorphism	-
P43146	DCC_HUMAN	805	G	E	Disease	Mirror movements 1 (MRMV1) [MIM:157600]
P43146	DCC_HUMAN	679	L	R	Polymorphism	-
P43146	DCC_HUMAN	23	F	L	Polymorphism	-
P43155	CACP_HUMAN	372	L	M	Polymorphism	-
P43155	CACP_HUMAN	321	R	H	Unclassified	Neurodegeneration with brain iron accumulation 8 (NBIA8) [MIM:617917]
P43155	CACP_HUMAN	624	A	P	Polymorphism	-
P43220	GLP1R_HUMAN	260	L	F	Polymorphism	-
P43220	GLP1R_HUMAN	168	G	S	Polymorphism	-
P43220	GLP1R_HUMAN	20	R	K	Polymorphism	-
P43220	GLP1R_HUMAN	421	R	Q	Polymorphism	-
P43220	GLP1R_HUMAN	333	S	C	Polymorphism	-
P43220	GLP1R_HUMAN	316	A	T	Polymorphism	-
P43220	GLP1R_HUMAN	44	R	H	Polymorphism	-
P43220	GLP1R_HUMAN	7	P	L	Polymorphism	-
P43220	GLP1R_HUMAN	131	R	Q	Polymorphism	-
P43235	CATK_HUMAN	309	L	P	Disease	Pycnodysostosis (PKND) [MIM:265800]
P43235	CATK_HUMAN	146	G	R	Disease	Pycnodysostosis (PKND) [MIM:265800]
P43235	CATK_HUMAN	122	R	P	Disease	Pycnodysostosis (PKND) [MIM:265800]
P43235	CATK_HUMAN	283	Y	C	Disease	Pycnodysostosis (PKND) [MIM:265800]
P43235	CATK_HUMAN	277	A	V	Disease	Pycnodysostosis (PKND) [MIM:265800]
P43235	CATK_HUMAN	79	G	E	Disease	Pycnodysostosis (PKND) [MIM:265800]
P43243	MATR3_HUMAN	664	E	A	Polymorphism	-
P43243	MATR3_HUMAN	89	I	V	Polymorphism	-
P43243	MATR3_HUMAN	85	S	C	Disease	Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070]
P43243	MATR3_HUMAN	787	N	S	Polymorphism	-
P43243	MATR3_HUMAN	154	P	S	Unclassified	Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070]
P43243	MATR3_HUMAN	622	T	A	Disease	Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070]
P43243	MATR3_HUMAN	72	A	T	Unclassified	Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070]
P43243	MATR3_HUMAN	147	R	W	Unclassified	Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070]
P43243	MATR3_HUMAN	115	F	C	Disease	Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070]
P43246	MSH2_HUMAN	335	T	I	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	853	E	A	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	169	I	V	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	323	S	Y	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	5	P	Q	Polymorphism	-
P43246	MSH2_HUMAN	272	A	V	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	283	D	Y	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	187	L	P	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	246	K	Q	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	333	C	Y	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	722	V	I	Polymorphism	-
P43246	MSH2_HUMAN	600	A	V	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	33	T	P	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	839	H	R	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	162	G	R	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	102	V	I	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	203	G	R	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P43246	MSH2_HUMAN	175	L	P	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	40	G	S	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P43246	MSH2_HUMAN	169	I	V	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P43246	MSH2_HUMAN	674	G	S	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	45	A	V	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	98	Y	C	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	729	M	V	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	870	A	G	Unclassified	Gastric cancer
P43246	MSH2_HUMAN	723	S	F	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	44	T	M	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	671	N	Y	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	679	I	T	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	173	L	P	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	583	N	S	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	639	H	R	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	393	K	M	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	336	P	S	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	641	C	G	Polymorphism	-
P43246	MSH2_HUMAN	93	L	F	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	342	V	I	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P43246	MSH2_HUMAN	911	L	R	Polymorphism	-
P43246	MSH2_HUMAN	714	A	V	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	163	V	D	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	110	K	T	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	13	S	I	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P43246	MSH2_HUMAN	603	D	N	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	17	V	F	Unclassified	Gastric cancer
P43246	MSH2_HUMAN	807	T	S	Polymorphism	-
P43246	MSH2_HUMAN	198	E	G	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	868	P	A	Unclassified	Gastric cancer
P43246	MSH2_HUMAN	770	I	V	Polymorphism	-
P43246	MSH2_HUMAN	622	P	L	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	534	R	P	Polymorphism	-
P43246	MSH2_HUMAN	322	G	D	Polymorphism	-
P43246	MSH2_HUMAN	675	K	A	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	732	T	I	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	164	G	R	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	688	M	V	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	749	E	K	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	824	Q	E	Unclassified	Gastric cancer
P43246	MSH2_HUMAN	162	G	A	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	638	R	G	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	385	P	L	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	46	H	Q	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	813	M	I	Polymorphism	-
P43246	MSH2_HUMAN	139	N	S	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	96	R	H	Polymorphism	-
P43246	MSH2_HUMAN	843	C	G	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	674	G	A	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	813	M	V	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	619	Y	C	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P43246	MSH2_HUMAN	835	N	H	Polymorphism	-
P43246	MSH2_HUMAN	199	C	R	Unclassified	Glioma
P43246	MSH2_HUMAN	645	Q	E	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	554	S	R	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	367	V	I	Polymorphism	-
P43246	MSH2_HUMAN	647	E	K	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	639	H	Y	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	167	D	H	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	55	R	G	Polymorphism	-
P43246	MSH2_HUMAN	145	I	M	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	909	K	I	Polymorphism	-
P43246	MSH2_HUMAN	779	M	I	Polymorphism	-
P43246	MSH2_HUMAN	670	P	L	Polymorphism	-
P43246	MSH2_HUMAN	187	L	R	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	216	I	V	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	177	E	H	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	759	G	E	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	323	S	C	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	165	Y	D	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	305	A	T	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	629	Q	R	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	390	L	F	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P43246	MSH2_HUMAN	390	L	F	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	697	C	R	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	805	L	V	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	359	R	S	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	692	G	R	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	748	D	Y	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	106	R	K	Polymorphism	-
P43246	MSH2_HUMAN	845	K	E	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	163	V	G	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	506	D	Y	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	656	Y	H	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	419	Q	K	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P43246	MSH2_HUMAN	562	E	V	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	697	C	F	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	506	D	Y	Disease	Colorectal cancer (CRC) [MIM:114500]
P43246	MSH2_HUMAN	636	A	P	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	161	V	D	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	331	N	D	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	470	V	E	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	552	T	P	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	596	N	S	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	886	E	G	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	519	F	L	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	8	T	M	Polymorphism	-
P43246	MSH2_HUMAN	492	M	V	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	696	P	L	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	674	G	R	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	524	R	P	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	688	M	I	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	43	Y	C	Polymorphism	-
P43246	MSH2_HUMAN	487	D	E	Polymorphism	-
P43246	MSH2_HUMAN	328	A	P	Polymorphism	-
P43246	MSH2_HUMAN	923	V	E	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	610	H	N	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	349	P	L	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	660	D	G	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	669	G	R	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	127	N	S	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	905	T	R	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	839	H	Q	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	205	E	Q	Polymorphism	-
P43246	MSH2_HUMAN	860	S	L	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	2	A	T	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	834	A	T	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	564	T	A	Unclassified	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43246	MSH2_HUMAN	873	C	G	Unclassified	Gastric cancer
P43246	MSH2_HUMAN	931	K	T	Disease	Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
P43250	GRK6_HUMAN	73	T	M	Polymorphism	-
P43250	GRK6_HUMAN	275	I	M	Unclassified	A breast infiltrating ductal carcinoma sample
P43250	GRK6_HUMAN	31	R	Q	Unclassified	A gastric adenocarcinoma sample
P43251	BTD_HUMAN	456	Q	H	Disease	Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251	BTD_HUMAN	228	D	Y	Disease	Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251	BTD_HUMAN	171	A	T	Disease	Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251	BTD_HUMAN	128	F	V	Disease	Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251	BTD_HUMAN	323	H	R	Disease	Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251	BTD_HUMAN	538	R	C	Disease	Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251	BTD_HUMAN	391	P	S	Polymorphism	-
P43251	BTD_HUMAN	451	G	D	Disease	Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251	BTD_HUMAN	532	T	M	Disease	Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251	BTD_HUMAN	444	D	H	Disease	Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43268	ETV4_HUMAN	437	R	C	Polymorphism	-
P43268	ETV4_HUMAN	195	F	I	Polymorphism	-
P43304	GPDM_HUMAN	525	R	H	Polymorphism	-
P43304	GPDM_HUMAN	453	K	Q	Polymorphism	-
P43304	GPDM_HUMAN	264	R	H	Polymorphism	-
P43307	SSRA_HUMAN	28	L	S	Polymorphism	-
P43320	CRBB2_HUMAN	65	A	S	Polymorphism	-
P43351	RAD52_HUMAN	70	R	W	Polymorphism	-
P43351	RAD52_HUMAN	287	S	N	Polymorphism	-
P43351	RAD52_HUMAN	221	Q	E	Polymorphism	-
P43355	MAGA1_HUMAN	72	R	Q	Polymorphism	-
P43355	MAGA1_HUMAN	278	K	T	Unclassified	A breast cancer sample
P43355	MAGA1_HUMAN	63	A	T	Polymorphism	-
P43355	MAGA1_HUMAN	32	T	A	Polymorphism	-
P43358	MAGA4_HUMAN	173	A	T	Polymorphism	-
P43358	MAGA4_HUMAN	153	G	D	Unclassified	A breast cancer sample
P43358	MAGA4_HUMAN	230	G	E	Polymorphism	-
P43358	MAGA4_HUMAN	137	L	Q	Polymorphism	-
P43359	MAGA5_HUMAN	29	Q	H	Polymorphism	-
P43360	MAGA6_HUMAN	152	S	I	Polymorphism	-
P43361	MAGA8_HUMAN	121	R	H	Polymorphism	-
P43361	MAGA8_HUMAN	306	S	F	Polymorphism	-
P43362	MAGA9_HUMAN	31	P	H	Polymorphism	-
P43363	MAGAA_HUMAN	166	R	K	Polymorphism	-
P43363	MAGAA_HUMAN	234	V	I	Polymorphism	-
P43364	MAGAB_HUMAN	191	S	R	Polymorphism	-
P43364	MAGAB_HUMAN	57	S	P	Unclassified	-
P43365	MAGAC_HUMAN	57	E	D	Polymorphism	-
P43366	MAGB1_HUMAN	267	R	C	Polymorphism	-
P43403	ZAP70_HUMAN	192	R	W	Disease	Autoimmune disease, multisystem, infantile-onset, 2 (ADMIO2) [MIM:617006]
P43403	ZAP70_HUMAN	465	R	H	Disease	Immunodeficiency 48 (IMD48) [MIM:269840]
P43403	ZAP70_HUMAN	360	R	P	Disease	Autoimmune disease, multisystem, infantile-onset, 2 (ADMIO2) [MIM:617006]
P43403	ZAP70_HUMAN	518	S	R	Disease	Immunodeficiency 48 (IMD48) [MIM:269840]
P43403	ZAP70_HUMAN	564	C	R	Disease	Immunodeficiency 48 (IMD48) [MIM:269840]
P43403	ZAP70_HUMAN	448	G	E	Unclassified	Neck squamous cell carcinoma sample
P43403	ZAP70_HUMAN	337	L	R	Disease	Immunodeficiency 48 (IMD48) [MIM:269840]
P43403	ZAP70_HUMAN	465	R	C	Disease	Immunodeficiency 48 (IMD48) [MIM:269840]
P43403	ZAP70_HUMAN	175	R	L	Polymorphism	-
P43403	ZAP70_HUMAN	523	W	L	Polymorphism	-
P43403	ZAP70_HUMAN	507	A	V	Disease	Immunodeficiency 48 (IMD48) [MIM:269840]
P43403	ZAP70_HUMAN	191	P	L	Polymorphism	-
P43405	KSYK_HUMAN	45	R	H	Polymorphism	-
P43487	RANG_HUMAN	145	A	V	Polymorphism	-
P43487	RANG_HUMAN	16	E	D	Unclassified	A breast cancer sample
P43489	TNR4_HUMAN	65	R	C	Disease	Immunodeficiency 16 (IMD16) [MIM:615593]
P43489	TNR4_HUMAN	10	R	C	Polymorphism	-
P43490	NAMPT_HUMAN	176	L	S	Unclassified	A colorectal cancer sample
P43626	KI2L1_HUMAN	237	K	E	Polymorphism	-
P43626	KI2L1_HUMAN	175	P	T	Polymorphism	-
P43626	KI2L1_HUMAN	266	R	C	Polymorphism	-
P43626	KI2L1_HUMAN	37	P	R	Polymorphism	-
P43626	KI2L1_HUMAN	66	F	Y	Polymorphism	-
P43626	KI2L1_HUMAN	203	H	R	Polymorphism	-
P43626	KI2L1_HUMAN	5	V	F	Polymorphism	-
P43626	KI2L1_HUMAN	184	D	N	Polymorphism	-
P43626	KI2L1_HUMAN	9	A	V	Polymorphism	-
P43626	KI2L1_HUMAN	111	V	L	Polymorphism	-
P43626	KI2L1_HUMAN	135	P	L	Polymorphism	-
P43627	KI2L2_HUMAN	37	R	P	Polymorphism	-
P43627	KI2L2_HUMAN	9	A	V	Polymorphism	-
P43627	KI2L2_HUMAN	66	F	Y	Polymorphism	-
P43628	KI2L3_HUMAN	242	R	I	Polymorphism	-
P43628	KI2L3_HUMAN	9	V	A	Polymorphism	-
P43628	KI2L3_HUMAN	37	P	R	Polymorphism	-
P43628	KI2L3_HUMAN	32	L	R	Polymorphism	-
P43628	KI2L3_HUMAN	304	A	T	Polymorphism	-
P43628	KI2L3_HUMAN	229	P	L	Polymorphism	-
P43628	KI2L3_HUMAN	318	R	H	Polymorphism	-
P43628	KI2L3_HUMAN	56	Q	E	Polymorphism	-
P43628	KI2L3_HUMAN	34	H	Q	Polymorphism	-
P43628	KI2L3_HUMAN	71	H	R	Polymorphism	-
P43628	KI2L3_HUMAN	66	F	Y	Polymorphism	-
P43629	KI3L1_HUMAN	333	S	C	Polymorphism	-
P43629	KI3L1_HUMAN	68	I	V	Polymorphism	-
P43629	KI3L1_HUMAN	75	I	L	Polymorphism	-
P43629	KI3L1_HUMAN	259	G	R	Polymorphism	-
P43629	KI3L1_HUMAN	23	M	V	Polymorphism	-
P43629	KI3L1_HUMAN	394	E	Q	Polymorphism	-
P43629	KI3L1_HUMAN	2	S	L	Polymorphism	-
P43629	KI3L1_HUMAN	362	L	R	Polymorphism	-
P43629	KI3L1_HUMAN	220	P	L	Polymorphism	-
P43629	KI3L1_HUMAN	13	L	F	Polymorphism	-
P43629	KI3L1_HUMAN	203	P	S	Polymorphism	-
P43630	KI3L2_HUMAN	166	R	H	Polymorphism	-
P43630	KI3L2_HUMAN	228	A	P	Polymorphism	-
P43630	KI3L2_HUMAN	397	T	M	Polymorphism	-
P43630	KI3L2_HUMAN	158	E	D	Polymorphism	-
P43630	KI3L2_HUMAN	113	L	V	Polymorphism	-
P43630	KI3L2_HUMAN	439	K	Q	Polymorphism	-
P43630	KI3L2_HUMAN	252	I	T	Polymorphism	-
P43630	KI3L2_HUMAN	40	P	A	Polymorphism	-
P43631	KI2S2_HUMAN	9	A	V	Polymorphism	-
P43631	KI2S2_HUMAN	254	K	N	Polymorphism	-
P43631	KI2S2_HUMAN	237	K	E	Polymorphism	-
P43631	KI2S2_HUMAN	66	Y	F	Polymorphism	-
P43632	KI2S4_HUMAN	205	A	S	Polymorphism	-
P43632	KI2S4_HUMAN	103	S	C	Polymorphism	-
P43632	KI2S4_HUMAN	65	K	M	Polymorphism	-
P43632	KI2S4_HUMAN	68	N	D	Polymorphism	-
P43632	KI2S4_HUMAN	92	P	H	Polymorphism	-
P43632	KI2S4_HUMAN	71	H	R	Polymorphism	-
P43632	KI2S4_HUMAN	89	P	R	Polymorphism	-
P43632	KI2S4_HUMAN	178	N	H	Polymorphism	-
P43632	KI2S4_HUMAN	93	V	D	Polymorphism	-
P43632	KI2S4_HUMAN	254	K	N	Polymorphism	-
P43652	AFAM_HUMAN	395	R	H	Polymorphism	-
P43652	AFAM_HUMAN	404	T	S	Polymorphism	-
P43657	LPAR6_HUMAN	33	I	V	Polymorphism	-
P43657	LPAR6_HUMAN	63	D	V	Disease	Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1) [MIM:278150]
P43657	LPAR6_HUMAN	307	W	C	Polymorphism	-
P43657	LPAR6_HUMAN	188	I	F	Disease	Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1) [MIM:278150]
P43657	LPAR6_HUMAN	137	C	W	Polymorphism	-
P43657	LPAR6_HUMAN	189	E	K	Disease	Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1) [MIM:278150]
P43681	ACHA4_HUMAN	517	S	L	Polymorphism	-
P43681	ACHA4_HUMAN	387	E	G	Polymorphism	-
P43681	ACHA4_HUMAN	280	S	F	Disease	Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513]
P43681	ACHA4_HUMAN	280	S	L	Disease	Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513]
P43694	GATA4_HUMAN	296	G	R	Disease	Ventricular septal defect 1 (VSD1) [MIM:614429]
P43694	GATA4_HUMAN	285	N	S	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P43694	GATA4_HUMAN	296	G	C	Disease	Atrial septal defect 2 (ASD2) [MIM:607941]
P43694	GATA4_HUMAN	226	P	Q	Unclassified	-
P43694	GATA4_HUMAN	271	C	S	Unclassified	-
P43694	GATA4_HUMAN	39	V	L	Polymorphism	-
P43694	GATA4_HUMAN	346	A	V	Disease	Atrioventricular septal defect 4 (AVSD4) [MIM:614430]
P43694	GATA4_HUMAN	310	M	V	Disease	Atrial septal defect 2 (ASD2) [MIM:607941]
P43694	GATA4_HUMAN	280	T	M	Disease	Atrial septal defect 2 (ASD2) [MIM:607941]
P43694	GATA4_HUMAN	93	G	A	Unclassified	Atrial septal defect 2 (ASD2) [MIM:607941]
P43694	GATA4_HUMAN	9	A	P	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P43694	GATA4_HUMAN	296	G	S	Disease	Atrial septal defect 2 (ASD2) [MIM:607941]
P43694	GATA4_HUMAN	377	S	G	Polymorphism	-
P43694	GATA4_HUMAN	425	D	N	Polymorphism	-
P43694	GATA4_HUMAN	403	L	M	Disease	Atrial septal defect 2 (ASD2) [MIM:607941]
P43694	GATA4_HUMAN	221	G	R	Disease	Testicular anomalies with or without congenital heart disease (TACHD) [MIM:615542]
P43694	GATA4_HUMAN	43	R	W	Disease	Ventricular septal defect 1 (VSD1) [MIM:614429]
P43694	GATA4_HUMAN	279	T	S	Unclassified	-
P43694	GATA4_HUMAN	6	A	V	Disease	Ventricular septal defect 1 (VSD1) [MIM:614429]
P43694	GATA4_HUMAN	163	P	S	Disease	Atrioventricular septal defect 4 (AVSD4) [MIM:614430]
P43694	GATA4_HUMAN	51	L	V	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P43694	GATA4_HUMAN	359	E	K	Disease	Ventricular septal defect 1 (VSD1) [MIM:614429]
P43694	GATA4_HUMAN	407	P	Q	Unclassified	Tetralogy of Fallot (TOF) [MIM:187500]
P43694	GATA4_HUMAN	429	S	T	Disease	Ventricular septal defect 1 (VSD1) [MIM:614429]
P43694	GATA4_HUMAN	442	A	V	Disease	Ventricular septal defect 1 (VSD1) [MIM:614429]
P43694	GATA4_HUMAN	316	Q	E	Unclassified	Atrial septal defect 2 (ASD2) [MIM:607941]
P43694	GATA4_HUMAN	411	A	V	Polymorphism	-
P43694	GATA4_HUMAN	52	S	F	Disease	Atrial septal defect 2 (ASD2) [MIM:607941]
P43694	GATA4_HUMAN	407	P	Q	Unclassified	Ventricular septal defect 1 (VSD1) [MIM:614429]
P43699	NKX21_HUMAN	203	T	R	Disease	Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) [MIM:610978]
P43699	NKX21_HUMAN	208	W	S	Disease	Chorea, hereditary benign (BHC) [MIM:118700]
P43699	NKX21_HUMAN	339	A	V	Disease	Thyroid cancer, non-medullary, 1 (NMTC1) [MIM:188550]
P43699	NKX21_HUMAN	179	R	P	Unclassified	Chorea, hereditary benign (BHC) [MIM:118700]
P43699	NKX21_HUMAN	172	Q	H	Disease	Chorea, hereditary benign (BHC) [MIM:118700]
P43699	NKX21_HUMAN	205	V	F	Disease	Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) [MIM:610978]
P43699	NKX21_HUMAN	208	W	L	Disease	Chorea, hereditary benign (BHC) [MIM:118700]
P43699	NKX21_HUMAN	213	R	S	Disease	Chorea, hereditary benign (BHC) [MIM:118700]
P43897	EFTS_HUMAN	240	C	S	Disease	Combined oxidative phosphorylation deficiency 3 (COXPD3) [MIM:610505]
P43897	EFTS_HUMAN	312	R	W	Disease	Combined oxidative phosphorylation deficiency 3 (COXPD3) [MIM:610505]
P45378	TNNT3_HUMAN	74	R	H	Disease	Arthrogryposis, distal, 2B (DA2B) [MIM:601680]
P45379	TNNT2_HUMAN	221	I	T	Polymorphism	-
P45379	TNNT2_HUMAN	89	I	N	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	231	I	T	Polymorphism	-
P45379	TNNT2_HUMAN	296	R	C	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	254	E	D	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	173	E	K	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	141	R	W	Disease	Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494]
P45379	TNNT2_HUMAN	38	A	V	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	249	S	T	Polymorphism	-
P45379	TNNT2_HUMAN	139	R	K	Polymorphism	-
P45379	TNNT2_HUMAN	288	R	C	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	279	N	Y	Polymorphism	-
P45379	TNNT2_HUMAN	120	F	I	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	102	R	Q	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	189	S	F	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	281	N	I	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	120	F	V	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	104	R	L	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	288	R	P	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	114	A	V	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	140	R	C	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	102	R	W	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	140	R	K	Polymorphism	-
P45379	TNNT2_HUMAN	151	R	W	Disease	Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494]
P45379	TNNT2_HUMAN	263	K	R	Polymorphism	-
P45379	TNNT2_HUMAN	80	F	L	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	102	R	L	Disease	Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]
P45379	TNNT2_HUMAN	215	R	L	Disease	Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494]
P45381	ACY2_HUMAN	177	I	T	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	168	R	H	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	204	D	H	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	68	D	A	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	69	L	R	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	170	I	T	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	129	E	K	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	248	Q	R	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	101	G	V	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	305	A	E	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	24	E	K	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	63	R	T	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	280	P	L	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	249	D	V	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	195	M	R	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	152	C	W	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	114	D	E	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	57	A	T	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	16	I	T	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	280	P	S	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	287	A	T	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	27	G	R	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	181	P	T	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	152	C	Y	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	168	R	C	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	143	I	T	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	30	L	P	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	310	C	G	Polymorphism	-
P45381	ACY2_HUMAN	123	G	E	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	231	Y	C	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	180	G	V	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	183	P	H	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	24	E	G	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	244	H	R	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	152	C	R	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	57	A	V	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	285	E	A	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	286	A	D	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	186	V	F	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	21	H	P	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	274	G	R	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	295	F	S	Disease	Canavan disease (CAND) [MIM:271900]
P45381	ACY2_HUMAN	114	D	Y	Disease	Canavan disease (CAND) [MIM:271900]
P45452	MMP13_HUMAN	75	F	S	Disease	Spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO) [MIM:602111]
P45452	MMP13_HUMAN	2	H	L	Polymorphism	-
P45452	MMP13_HUMAN	232	H	N	Disease	Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111]
P45452	MMP13_HUMAN	207	W	G	Disease	Metaphyseal dysplasia, Spahr type (MDST) [MIM:250400]
P45452	MMP13_HUMAN	74	F	S	Disease	Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111]
P45452	MMP13_HUMAN	390	D	G	Polymorphism	-
P45452	MMP13_HUMAN	91	M	T	Disease	Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111]
P45844	ABCG1_HUMAN	668	F	L	Polymorphism	-
P45877	PPIC_HUMAN	190	N	S	Polymorphism	-
P45877	PPIC_HUMAN	160	H	L	Polymorphism	-
P45877	PPIC_HUMAN	86	K	R	Polymorphism	-
P45880	VDAC2_HUMAN	24	A	V	Polymorphism	-
P45954	ACDSB_HUMAN	316	I	V	Polymorphism	-
P45954	ACDSB_HUMAN	209	S	G	Polymorphism	-
P45954	ACDSB_HUMAN	255	L	F	Disease	Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]
P45954	ACDSB_HUMAN	376	E	G	Polymorphism	-
P45954	ACDSB_HUMAN	13	R	K	Polymorphism	-
P45983	MK08_HUMAN	171	G	S	Unclassified	A renal clear cell carcinoma sample
P45983	MK08_HUMAN	177	G	R	Unclassified	A glioblastoma multiforme sample
P45983	MK08_HUMAN	365	E	K	Polymorphism	-
P45984	MK09_HUMAN	366	R	I	Polymorphism	-
P45984	MK09_HUMAN	268	G	A	Polymorphism	-
P45984	MK09_HUMAN	56	K	N	Unclassified	A head & Neck squamous cell carcinoma sample
P45984	MK09_HUMAN	13	V	M	Unclassified	A colorectal adenocarcinoma sample
P45984	MK09_HUMAN	246	A	T	Polymorphism	-
P45985	MP2K4_HUMAN	234	N	I	Unclassified	An ovarian serous carcinoma sample
P45985	MP2K4_HUMAN	279	A	T	Unclassified	A colorectal adenocarcinoma sample
P45985	MP2K4_HUMAN	154	R	W	Unclassified	A colorectal adenocarcinoma sample
P45985	MP2K4_HUMAN	16	S	R	Polymorphism	-
P45985	MP2K4_HUMAN	251	S	N	Unclassified	A metastatic melanoma sample
P45985	MP2K4_HUMAN	142	Q	L	Unclassified	A lung squamous cell carcinoma sample
P46013	KI67_HUMAN	2101	I	T	Polymorphism	-
P46013	KI67_HUMAN	1849	T	A	Polymorphism	-
P46013	KI67_HUMAN	631	I	L	Polymorphism	-
P46013	KI67_HUMAN	3217	K	E	Polymorphism	-
P46013	KI67_HUMAN	238	W	R	Polymorphism	-
P46013	KI67_HUMAN	1470	L	W	Polymorphism	-
P46013	KI67_HUMAN	2337	T	N	Polymorphism	-
P46013	KI67_HUMAN	2363	N	S	Polymorphism	-
P46013	KI67_HUMAN	2760	D	G	Polymorphism	-
P46013	KI67_HUMAN	3150	T	S	Polymorphism	-
P46013	KI67_HUMAN	2608	P	L	Polymorphism	-
P46013	KI67_HUMAN	1042	G	S	Polymorphism	-
P46013	KI67_HUMAN	2649	R	H	Polymorphism	-
P46013	KI67_HUMAN	104	N	S	Polymorphism	-
P46013	KI67_HUMAN	1120	T	S	Polymorphism	-
P46013	KI67_HUMAN	3097	N	D	Polymorphism	-
P46013	KI67_HUMAN	2793	S	N	Polymorphism	-
P46013	KI67_HUMAN	574	Q	P	Polymorphism	-
P46013	KI67_HUMAN	854	L	V	Polymorphism	-
P46013	KI67_HUMAN	1403	E	V	Polymorphism	-
P46013	KI67_HUMAN	832	R	W	Polymorphism	-
P46013	KI67_HUMAN	2786	R	Q	Polymorphism	-
P46013	KI67_HUMAN	2845	R	H	Polymorphism	-
P46013	KI67_HUMAN	3102	E	G	Polymorphism	-
P46013	KI67_HUMAN	1559	V	M	Polymorphism	-
P46013	KI67_HUMAN	1951	L	I	Polymorphism	-
P46013	KI67_HUMAN	872	A	V	Polymorphism	-
P46013	KI67_HUMAN	1876	R	Q	Polymorphism	-
P46013	KI67_HUMAN	497	E	D	Polymorphism	-
P46013	KI67_HUMAN	1622	P	L	Polymorphism	-
P46013	KI67_HUMAN	2904	Q	R	Polymorphism	-
P46013	KI67_HUMAN	2607	R	H	Polymorphism	-
P46013	KI67_HUMAN	1247	T	I	Polymorphism	-
P46013	KI67_HUMAN	2868	T	S	Polymorphism	-
P46013	KI67_HUMAN	2720	T	P	Polymorphism	-
P46019	KPB2_HUMAN	186	R	H	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	1114	T	I	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	299	D	G	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	1205	P	L	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	132	H	P	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	295	R	H	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	1113	M	I	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	38	E	Q	Polymorphism	-
P46019	KPB2_HUMAN	1125	E	K	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	193	G	V	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	916	R	W	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	498	P	L	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	416	G	R	Polymorphism	-
P46019	KPB2_HUMAN	186	R	C	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	399	P	S	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	132	H	Y	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	1207	G	W	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	869	P	R	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46019	KPB2_HUMAN	189	K	E	Disease	Glycogen storage disease 9A (GSD9A) [MIM:306000]
P46020	KPB1_HUMAN	299	D	V	Disease	Glycogen storage disease 9D (GSD9D) [MIM:300559]
P46059	S15A1_HUMAN	419	G	A	Polymorphism	-
P46059	S15A1_HUMAN	450	V	I	Polymorphism	-
P46059	S15A1_HUMAN	537	P	S	Polymorphism	-
P46059	S15A1_HUMAN	117	S	N	Polymorphism	-
P46059	S15A1_HUMAN	122	V	M	Polymorphism	-
P46059	S15A1_HUMAN	28	F	Y	Polymorphism	-
P46059	S15A1_HUMAN	451	T	N	Polymorphism	-
P46059	S15A1_HUMAN	117	S	R	Polymorphism	-
P46059	S15A1_HUMAN	459	R	C	Polymorphism	-
P46059	S15A1_HUMAN	21	V	I	Polymorphism	-
P46060	RAGP1_HUMAN	133	E	Q	Polymorphism	-
P46063	RECQ1_HUMAN	487	K	T	Polymorphism	-
P46063	RECQ1_HUMAN	495	D	H	Polymorphism	-
P46063	RECQ1_HUMAN	372	V	I	Polymorphism	-
P46063	RECQ1_HUMAN	102	V	I	Polymorphism	-
P46087	NOP2_HUMAN	73	L	S	Polymorphism	-
P46089	GPR3_HUMAN	222	R	H	Polymorphism	-
P46091	GPR1_HUMAN	307	I	V	Polymorphism	-
P46093	GPR4_HUMAN	295	S	N	Polymorphism	-
P46098	5HT3A_HUMAN	344	R	H	Polymorphism	-
P46098	5HT3A_HUMAN	253	S	N	Polymorphism	-
P46098	5HT3A_HUMAN	409	R	Q	Polymorphism	-
P46098	5HT3A_HUMAN	33	A	T	Polymorphism	-
P46098	5HT3A_HUMAN	391	P	R	Polymorphism	-
P46100	ATRX_HUMAN	246	R	L	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	190	P	L	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	1614	C	R	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	190	P	S	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	2163	Y	C	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	175	G	E	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	409	L	S	Disease	Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580]
P46100	ATRX_HUMAN	2084	Y	H	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	2131	R	Q	Disease	Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580]
P46100	ATRX_HUMAN	243	C	F	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	1713	P	S	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	1650	K	N	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	1847	Y	C	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	2035	D	V	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	220	C	Y	Disease	Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580]
P46100	ATRX_HUMAN	246	R	C	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	179	N	S	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	194	V	I	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	1645	L	S	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	249	G	C	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	1621	T	M	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	2271	R	G	Disease	Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580]
P46100	ATRX_HUMAN	596	S	P	Polymorphism	-
P46100	ATRX_HUMAN	220	C	R	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	1860	N	S	Polymorphism	-
P46100	ATRX_HUMAN	929	Q	E	Polymorphism	-
P46100	ATRX_HUMAN	219	Q	P	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	1742	R	K	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	192	L	F	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	1552	V	F	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	222	W	S	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	200	C	S	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	190	P	A	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	545	Q	E	Polymorphism	-
P46100	ATRX_HUMAN	1538	V	G	Unclassified	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	740	E	G	Polymorphism	-
P46100	ATRX_HUMAN	249	G	D	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	1609	H	R	Disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
P46100	ATRX_HUMAN	2050	I	T	Disease	Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580]
P46199	IF2M_HUMAN	59	T	N	Polymorphism	-
P46199	IF2M_HUMAN	556	V	I	Polymorphism	-
P46379	BAG6_HUMAN	728	A	V	Polymorphism	-
P46379	BAG6_HUMAN	625	S	P	Polymorphism	-
P46439	GSTM5_HUMAN	67	A	T	Polymorphism	-
P46439	GSTM5_HUMAN	179	L	P	Polymorphism	-
P46459	NSF_HUMAN	476	T	M	Polymorphism	-
P46527	CDN1B_HUMAN	69	P	L	Polymorphism	-
P46527	CDN1B_HUMAN	15	R	W	Polymorphism	-
P46527	CDN1B_HUMAN	109	V	G	Polymorphism	-
P46531	NOTC1_HUMAN	879	R	W	Polymorphism	-
P46531	NOTC1_HUMAN	1671	V	I	Polymorphism	-
P46531	NOTC1_HUMAN	300	Q	R	Polymorphism	-
P46531	NOTC1_HUMAN	429	C	R	Disease	Adams-Oliver syndrome 5 (AOS5) [MIM:616028]
P46531	NOTC1_HUMAN	1989	D	N	Disease	Adams-Oliver syndrome 5 (AOS5) [MIM:616028]
P46531	NOTC1_HUMAN	1496	C	Y	Disease	Adams-Oliver syndrome 5 (AOS5) [MIM:616028]
P46597	ASMT_HUMAN	298	L	F	Polymorphism	-
P46597	ASMT_HUMAN	278	G	A	Polymorphism	-
P46597	ASMT_HUMAN	61	E	Q	Polymorphism	-
P46597	ASMT_HUMAN	171	V	M	Polymorphism	-
P46597	ASMT_HUMAN	248	Y	H	Polymorphism	-
P46597	ASMT_HUMAN	81	K	E	Polymorphism	-
P46597	ASMT_HUMAN	217	T	M	Polymorphism	-
P46597	ASMT_HUMAN	291	R	Q	Polymorphism	-
P46597	ASMT_HUMAN	166	V	I	Polymorphism	-
P46597	ASMT_HUMAN	151	G	S	Polymorphism	-
P46597	ASMT_HUMAN	17	N	K	Polymorphism	-
P46597	ASMT_HUMAN	211	I	M	Polymorphism	-
P46597	ASMT_HUMAN	273	C	S	Polymorphism	-
P46597	ASMT_HUMAN	111	R	K	Polymorphism	-
P46597	ASMT_HUMAN	13	N	H	Polymorphism	-
P46597	ASMT_HUMAN	219	K	R	Polymorphism	-
P46597	ASMT_HUMAN	305	V	M	Polymorphism	-
P46597	ASMT_HUMAN	288	E	D	Polymorphism	-
P46597	ASMT_HUMAN	115	R	W	Polymorphism	-
P46597	ASMT_HUMAN	210	D	G	Polymorphism	-
P46597	ASMT_HUMAN	243	P	L	Polymorphism	-
P46597	ASMT_HUMAN	269	I	M	Polymorphism	-
P46597	ASMT_HUMAN	179	V	G	Polymorphism	-
P46663	BKRB1_HUMAN	317	R	Q	Polymorphism	-
P46663	BKRB1_HUMAN	250	A	V	Polymorphism	-
P46695	IEX1_HUMAN	127	A	P	Polymorphism	-
P46721	SO1A2_HUMAN	220	V	I	Unclassified	A colorectal cancer sample
P46721	SO1A2_HUMAN	128	N	Y	Polymorphism	-
P46721	SO1A2_HUMAN	355	I	V	Polymorphism	-
P46721	SO1A2_HUMAN	172	E	D	Polymorphism	-
P46721	SO1A2_HUMAN	13	I	T	Polymorphism	-
P46721	SO1A2_HUMAN	135	N	I	Polymorphism	-
P46721	SO1A2_HUMAN	668	T	S	Polymorphism	-
P46721	SO1A2_HUMAN	187	A	T	Polymorphism	-
P46734	MP2K3_HUMAN	94	R	L	Polymorphism	-
P46734	MP2K3_HUMAN	55	R	T	Polymorphism	-
P46734	MP2K3_HUMAN	26	R	T	Polymorphism	-
P46734	MP2K3_HUMAN	339	V	M	Polymorphism	-
P46734	MP2K3_HUMAN	96	R	W	Polymorphism	-
P46734	MP2K3_HUMAN	40	P	T	Polymorphism	-
P46734	MP2K3_HUMAN	293	R	H	Polymorphism	-
P46734	MP2K3_HUMAN	68	S	P	Polymorphism	-
P46734	MP2K3_HUMAN	175	R	W	Unclassified	Colon cancer
P46734	MP2K3_HUMAN	84	A	T	Polymorphism	-
P46734	MP2K3_HUMAN	90	M	I	Polymorphism	-
P46734	MP2K3_HUMAN	215	L	V	Unclassified	Colon cancer
P46736	BRCC3_HUMAN	74	I	V	Polymorphism	-
P46777	RL5_HUMAN	140	G	S	Disease	Diamond-Blackfan anemia 6 (DBA6) [MIM:612561]
P46777	RL5_HUMAN	210	Y	C	Polymorphism	-
P46777	RL5_HUMAN	285	A	V	Disease	Diamond-Blackfan anemia 6 (DBA6) [MIM:612561]
P46778	RL21_HUMAN	32	R	Q	Disease	Hypotrichosis 12 (HYPT12) [MIM:615885]
P46778	RL21_HUMAN	15	F	S	Polymorphism	-
P46779	RL28_HUMAN	66	R	L	Polymorphism	-
P46781	RS9_HUMAN	137	V	F	Unclassified	A breast cancer sample
P46821	MAP1B_HUMAN	574	V	M	Unclassified	A colorectal cancer sample
P46821	MAP1B_HUMAN	326	R	Q	Unclassified	A colorectal cancer sample
P46821	MAP1B_HUMAN	594	I	V	Polymorphism	-
P46821	MAP1B_HUMAN	1296	P	L	Polymorphism	-
P46821	MAP1B_HUMAN	869	E	G	Polymorphism	-
P46821	MAP1B_HUMAN	1917	S	R	Polymorphism	-
P46934	NEDD4_HUMAN	33	M	V	Polymorphism	-
P46934	NEDD4_HUMAN	627	Y	H	Unclassified	A breast cancer sample
P46934	NEDD4_HUMAN	698	N	S	Polymorphism	-
P46934	NEDD4_HUMAN	679	R	Q	Polymorphism	-
P46937	YAP1_HUMAN	227	S	L	Polymorphism	-
P46937	YAP1_HUMAN	330	M	V	Polymorphism	-
P46937	YAP1_HUMAN	462	G	E	Polymorphism	-
P46937	YAP1_HUMAN	139	P	L	Polymorphism	-
P46939	UTRO_HUMAN	2060	G	D	Polymorphism	-
P46939	UTRO_HUMAN	1974	A	T	Polymorphism	-
P46939	UTRO_HUMAN	1880	L	I	Polymorphism	-
P46939	UTRO_HUMAN	2202	N	S	Polymorphism	-
P46940	IQGA1_HUMAN	256	S	A	Polymorphism	-
P46952	3HAO_HUMAN	42	T	S	Polymorphism	-
P46952	3HAO_HUMAN	37	I	V	Polymorphism	-
P46976	GLYG_HUMAN	16	A	P	Disease	Polyglucosan body myopathy 2 (PGBM2) [MIM:616199]
P46976	GLYG_HUMAN	102	D	H	Disease	Polyglucosan body myopathy 2 (PGBM2) [MIM:616199]
P46976	GLYG_HUMAN	83	T	M	Disease	Glycogen storage disease 15 (GSD15) [MIM:613507]
P46977	STT3A_HUMAN	626	V	A	Disease	Congenital disorder of glycosylation 1W (CDG1W) [MIM:615596]
P47211	GALR1_HUMAN	15	W	C	Polymorphism	-
P47211	GALR1_HUMAN	334	S	N	Polymorphism	-
P47211	GALR1_HUMAN	342	P	L	Polymorphism	-
P47710	CASA1_HUMAN	117	A	V	Polymorphism	-
P47712	PA24A_HUMAN	651	R	K	Polymorphism	-
P47712	PA24A_HUMAN	637	I	V	Polymorphism	-
P47712	PA24A_HUMAN	224	V	I	Polymorphism	-
P47712	PA24A_HUMAN	485	R	H	Disease	-
P47712	PA24A_HUMAN	442	H	Q	Unclassified	A breast cancer sample
P47712	PA24A_HUMAN	103	G	R	Polymorphism	-
P47712	PA24A_HUMAN	111	S	P	Disease	-
P47736	RPGP1_HUMAN	609	Y	C	Unclassified	A breast cancer sample
P47736	RPGP1_HUMAN	257	C	R	Unclassified	A breast cancer sample
P47736	RPGP1_HUMAN	107	A	T	Polymorphism	-
P47804	RGR_HUMAN	66	S	R	Disease	Retinitis pigmentosa 44 (RP44) [MIM:613769]
P47804	RGR_HUMAN	152	H	N	Polymorphism	-
P47804	RGR_HUMAN	241	S	F	Polymorphism	-
P47804	RGR_HUMAN	132	V	L	Polymorphism	-
P47804	RGR_HUMAN	234	A	T	Polymorphism	-
P47870	GBRB2_HUMAN	244	Y	H	Unclassified	Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829]
P47870	GBRB2_HUMAN	287	T	P	Disease	Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829]
P47870	GBRB2_HUMAN	303	K	R	Unclassified	Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829]
P47870	GBRB2_HUMAN	277	L	S	Unclassified	Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829]
P47870	GBRB2_HUMAN	304	A	V	Unclassified	Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829]
P47870	GBRB2_HUMAN	284	T	K	Unclassified	Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829]
P47870	GBRB2_HUMAN	79	M	T	Unclassified	Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829]
P47870	GBRB2_HUMAN	293	R	P	Unclassified	Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829]
P47870	GBRB2_HUMAN	316	V	I	Unclassified	Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829]
P47871	GLR_HUMAN	114	P	A	Polymorphism	-
P47871	GLR_HUMAN	86	P	S	Unclassified	-
P47871	GLR_HUMAN	303	F	C	Polymorphism	-
P47871	GLR_HUMAN	40	G	S	Polymorphism	-
P47872	SCTR_HUMAN	110	D	N	Polymorphism	-
P47872	SCTR_HUMAN	122	A	P	Polymorphism	-
P47874	OMP_HUMAN	26	R	W	Polymorphism	-
P47874	OMP_HUMAN	36	G	R	Polymorphism	-
P47881	OR3A1_HUMAN	125	R	Q	Polymorphism	-
P47881	OR3A1_HUMAN	78	S	G	Polymorphism	-
P47883	OR3A4_HUMAN	300	V	I	Polymorphism	-
P47883	OR3A4_HUMAN	175	N	S	Polymorphism	-
P47883	OR3A4_HUMAN	103	E	Q	Polymorphism	-
P47883	OR3A4_HUMAN	86	S	R	Polymorphism	-
P47883	OR3A4_HUMAN	168	P	T	Polymorphism	-
P47883	OR3A4_HUMAN	181	Y	H	Polymorphism	-
P47883	OR3A4_HUMAN	193	S	A	Polymorphism	-
P47883	OR3A4_HUMAN	120	I	V	Polymorphism	-
P47883	OR3A4_HUMAN	42	I	V	Polymorphism	-
P47883	OR3A4_HUMAN	237	R	K	Polymorphism	-
P47887	OR1E2_HUMAN	27	C	R	Polymorphism	-
P47887	OR1E2_HUMAN	168	H	D	Unclassified	A colorectal cancer sample
P47888	OR3A3_HUMAN	317	K	E	Polymorphism	-
P47888	OR3A3_HUMAN	158	W	L	Polymorphism	-
P47888	OR3A3_HUMAN	132	L	F	Polymorphism	-
P47888	OR3A3_HUMAN	287	M	V	Polymorphism	-
P47890	OR1G1_HUMAN	88	Q	H	Polymorphism	-
P47893	OR3A2_HUMAN	190	L	V	Polymorphism	-
P47895	AL1A3_HUMAN	174	C	Y	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895	AL1A3_HUMAN	386	M	V	Polymorphism	-
P47895	AL1A3_HUMAN	411	E	K	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895	AL1A3_HUMAN	382	G	R	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895	AL1A3_HUMAN	466	N	K	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895	AL1A3_HUMAN	145	A	V	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895	AL1A3_HUMAN	355	P	R	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895	AL1A3_HUMAN	89	R	C	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895	AL1A3_HUMAN	369	I	F	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895	AL1A3_HUMAN	493	A	P	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895	AL1A3_HUMAN	71	V	M	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47897	SYQ_HUMAN	515	R	W	Disease	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760]
P47897	SYQ_HUMAN	57	Y	H	Disease	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760]
P47897	SYQ_HUMAN	403	R	W	Disease	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760]
P47897	SYQ_HUMAN	45	G	V	Disease	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760]
P47898	5HT5A_HUMAN	262	R	C	Unclassified	A colorectal cancer sample
P47901	V1BR_HUMAN	191	G	R	Polymorphism	-
P47901	V1BR_HUMAN	267	S	G	Polymorphism	-
P47901	V1BR_HUMAN	364	R	H	Polymorphism	-
P47901	V1BR_HUMAN	65	K	N	Polymorphism	-
P47901	V1BR_HUMAN	224	H	Q	Polymorphism	-
P47902	CDX1_HUMAN	130	P	R	Polymorphism	-
P47944	MT4_HUMAN	48	G	D	Polymorphism	-
P47944	MT4_HUMAN	31	W	R	Polymorphism	-
P47944	MT4_HUMAN	30	Y	C	Polymorphism	-
P47985	UCRI_HUMAN	6	S	A	Polymorphism	-
P47989	XDH_HUMAN	617	K	N	Polymorphism	-
P47989	XDH_HUMAN	1296	R	W	Polymorphism	-
P47989	XDH_HUMAN	1109	N	T	Polymorphism	-
P47989	XDH_HUMAN	172	G	R	Polymorphism	-
P47989	XDH_HUMAN	1150	P	R	Polymorphism	-
P47989	XDH_HUMAN	791	R	G	Unclassified	A breast cancer sample
P47989	XDH_HUMAN	623	T	I	Polymorphism	-
P47989	XDH_HUMAN	149	R	C	Disease	Xanthinuria 1 (XAN1) [MIM:278300]
P47989	XDH_HUMAN	395	K	M	Polymorphism	-
P47989	XDH_HUMAN	646	I	V	Polymorphism	-
P47989	XDH_HUMAN	910	T	M	Polymorphism	-
P47989	XDH_HUMAN	763	L	F	Unclassified	A breast cancer sample
P47989	XDH_HUMAN	1091	V	L	Polymorphism	-
P47989	XDH_HUMAN	555	P	S	Polymorphism	-
P47989	XDH_HUMAN	1176	R	C	Polymorphism	-
P47989	XDH_HUMAN	133	E	K	Polymorphism	-
P47989	XDH_HUMAN	584	D	A	Polymorphism	-
P47989	XDH_HUMAN	607	R	Q	Polymorphism	-
P47989	XDH_HUMAN	703	I	V	Polymorphism	-
P47989	XDH_HUMAN	235	T	M	Polymorphism	-
P48023	TNFL6_HUMAN	202	C	S	Disease	Autoimmune lymphoproliferative syndrome 1B (ALPS1B) [MIM:601859]
P48023	TNFL6_HUMAN	189	Y	S	Polymorphism	-
P48029	SC6A8_HUMAN	550	T	S	Polymorphism	-
P48029	SC6A8_HUMAN	564	F	L	Polymorphism	-
P48029	SC6A8_HUMAN	381	G	R	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	624	E	K	Polymorphism	-
P48029	SC6A8_HUMAN	80	Y	H	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	314	F	L	Polymorphism	-
P48029	SC6A8_HUMAN	552	V	L	Unclassified	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	318	A	T	Polymorphism	-
P48029	SC6A8_HUMAN	270	V	M	Polymorphism	-
P48029	SC6A8_HUMAN	390	P	L	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	611	A	T	Polymorphism	-
P48029	SC6A8_HUMAN	560	M	V	Polymorphism	-
P48029	SC6A8_HUMAN	383	G	C	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	539	V	I	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	491	C	W	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	294	K	Q	Polymorphism	-
P48029	SC6A8_HUMAN	4	K	R	Polymorphism	-
P48029	SC6A8_HUMAN	391	R	W	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	186	R	H	Polymorphism	-
P48029	SC6A8_HUMAN	87	G	R	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	132	G	V	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	337	C	W	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	164	T	S	Polymorphism	-
P48029	SC6A8_HUMAN	448	A	D	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48029	SC6A8_HUMAN	629	V	I	Polymorphism	-
P48029	SC6A8_HUMAN	26	G	R	Polymorphism	-
P48029	SC6A8_HUMAN	554	P	L	Disease	Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
P48039	MTR1A_HUMAN	157	A	V	Polymorphism	-
P48039	MTR1A_HUMAN	212	I	T	Polymorphism	-
P48039	MTR1A_HUMAN	54	R	W	Polymorphism	-
P48047	ATPO_HUMAN	98	K	R	Polymorphism	-
P48048	KCNJ1_HUMAN	357	M	T	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	74	D	Y	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	214	A	V	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	315	V	G	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	72	V	E	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	219	S	R	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	124	N	K	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	115	S	F	Unclassified	A breast cancer sample
P48048	KCNJ1_HUMAN	122	V	E	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	198	A	T	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	99	W	C	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	108	D	H	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	110	P	L	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48048	KCNJ1_HUMAN	6	R	W	Polymorphism	-
P48048	KCNJ1_HUMAN	167	G	E	Disease	Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
P48051	KCNJ6_HUMAN	154	G	S	Disease	Keppen-Lubinsky syndrome (KPLBS) [MIM:614098]
P48052	CBPA2_HUMAN	82	E	G	Polymorphism	-
P48058	GRIA4_HUMAN	644	A	V	Disease	Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864]
P48058	GRIA4_HUMAN	639	T	S	Disease	Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864]
P48058	GRIA4_HUMAN	697	R	P	Unclassified	Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864]
P48058	GRIA4_HUMAN	641	N	D	Disease	Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864]
P48058	GRIA4_HUMAN	643	A	G	Disease	Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864]
P48060	GLIP1_HUMAN	211	R	Q	Polymorphism	-
P48060	GLIP1_HUMAN	163	D	E	Polymorphism	-
P48065	S6A12_HUMAN	10	C	R	Polymorphism	-
P48067	SC6A9_HUMAN	407	S	G	Disease	Glycine encephalopathy with normal serum glycine (GCENSG) [MIM:617301]
P48145	NPBW1_HUMAN	19	P	Q	Unclassified	A breast cancer sample
P48145	NPBW1_HUMAN	135	Y	F	Polymorphism	-
P48145	NPBW1_HUMAN	319	R	C	Polymorphism	-
P48146	NPBW2_HUMAN	206	Q	R	Polymorphism	-
P48146	NPBW2_HUMAN	92	G	R	Unclassified	A colorectal cancer sample
P48147	PPCE_HUMAN	351	L	V	Polymorphism	-
P48147	PPCE_HUMAN	706	V	I	Polymorphism	-
P48165	CXA8_HUMAN	47	D	N	Disease	Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165	CXA8_HUMAN	64	V	G	Disease	Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165	CXA8_HUMAN	247	I	M	Polymorphism	-
P48165	CXA8_HUMAN	23	R	T	Disease	Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165	CXA8_HUMAN	76	R	C	Disease	Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165	CXA8_HUMAN	198	R	Q	Disease	Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165	CXA8_HUMAN	44	V	E	Disease	Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165	CXA8_HUMAN	67	D	G	Disease	Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165	CXA8_HUMAN	88	P	S	Disease	Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165	CXA8_HUMAN	48	E	K	Disease	Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48167	GLRB_HUMAN	199	M	R	Disease	Hyperekplexia 2 (HKPX2) [MIM:614619]
P48167	GLRB_HUMAN	307	L	R	Disease	Hyperekplexia 2 (HKPX2) [MIM:614619]
P48167	GLRB_HUMAN	251	G	D	Disease	Hyperekplexia 2 (HKPX2) [MIM:614619]
P48167	GLRB_HUMAN	332	W	C	Disease	Hyperekplexia 2 (HKPX2) [MIM:614619]
P48169	GBRA4_HUMAN	26	L	M	Polymorphism	-
P48169	GBRA4_HUMAN	516	S	R	Unclassified	A breast cancer sample
P48169	GBRA4_HUMAN	19	A	T	Polymorphism	-
P48200	IREB2_HUMAN	580	I	T	Polymorphism	-
P48201	AT5G3_HUMAN	93	G	E	Polymorphism	-
P48304	REG1B_HUMAN	109	R	H	Polymorphism	-
P48307	TFPI2_HUMAN	102	V	A	Polymorphism	-
P48307	TFPI2_HUMAN	231	R	Q	Polymorphism	-
P48357	LEPR_HUMAN	124	D	G	Polymorphism	-
P48357	LEPR_HUMAN	204	K	R	Polymorphism	-
P48357	LEPR_HUMAN	604	C	G	Unclassified	Leptin receptor deficiency (LEPRD) [MIM:614963]
P48357	LEPR_HUMAN	223	Q	R	Polymorphism	-
P48357	LEPR_HUMAN	675	S	T	Polymorphism	-
P48357	LEPR_HUMAN	109	K	R	Polymorphism	-
P48357	LEPR_HUMAN	699	T	M	Polymorphism	-
P48357	LEPR_HUMAN	786	L	P	Unclassified	Leptin receptor deficiency (LEPRD) [MIM:614963]
P48357	LEPR_HUMAN	422	Y	H	Unclassified	Leptin receptor deficiency (LEPRD) [MIM:614963]
P48357	LEPR_HUMAN	503	I	V	Polymorphism	-
P48357	LEPR_HUMAN	656	K	N	Polymorphism	-
P48378	RFX2_HUMAN	86	A	T	Polymorphism	-
P48378	RFX2_HUMAN	110	E	K	Unclassified	A breast cancer sample
P48378	RFX2_HUMAN	610	R	Q	Polymorphism	-
P48378	RFX2_HUMAN	37	A	G	Unclassified	A breast cancer sample
P48382	RFX5_HUMAN	197	R	Q	Polymorphism	-
P48382	RFX5_HUMAN	409	P	R	Polymorphism	-
P48382	RFX5_HUMAN	499	P	S	Polymorphism	-
P48382	RFX5_HUMAN	149	R	Q	Disease	Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]
P48426	PI42A_HUMAN	7	L	I	Polymorphism	-
P48426	PI42A_HUMAN	251	N	S	Polymorphism	-
P48431	SOX2_HUMAN	51	W	R	Unclassified	Microphthalmia, syndromic, 3 (MCOPS3) [MIM:206900]
P48431	SOX2_HUMAN	74	R	P	Unclassified	Microphthalmia, syndromic, 3 (MCOPS3) [MIM:206900]
P48431	SOX2_HUMAN	79	W	S	Unclassified	Microphthalmia, syndromic, 3 (MCOPS3) [MIM:206900]
P48436	SOX9_HUMAN	165	H	Y	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	154	F	L	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	112	F	L	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	173	K	E	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	158	A	T	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	170	P	L	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	113	M	T	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	112	F	S	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	165	H	Q	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	76	A	E	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	169	H	P	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	108	P	L	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	152	R	P	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	169	H	Q	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	143	W	R	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	113	M	V	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	170	P	R	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48436	SOX9_HUMAN	119	A	V	Disease	Campomelic dysplasia (CMD1) [MIM:114290]
P48444	COPD_HUMAN	309	K	N	Polymorphism	-
P48444	COPD_HUMAN	186	F	L	Polymorphism	-
P48448	AL3B2_HUMAN	52	S	N	Polymorphism	-
P48448	AL3B2_HUMAN	203	H	R	Polymorphism	-
P48448	AL3B2_HUMAN	276	R	W	Polymorphism	-
P48448	AL3B2_HUMAN	361	H	R	Polymorphism	-
P48448	AL3B2_HUMAN	302	S	R	Polymorphism	-
P48448	AL3B2_HUMAN	50	A	T	Polymorphism	-
P48448	AL3B2_HUMAN	220	S	G	Polymorphism	-
P48449	ERG7_HUMAN	102	L	V	Disease	Hypotrichosis 14 (HYPT14) [MIM:618275]
P48449	ERG7_HUMAN	688	P	L	Polymorphism	-
P48449	ERG7_HUMAN	581	W	R	Disease	Cataract 44 (CTRCT44) [MIM:616509]
P48449	ERG7_HUMAN	248	L	P	Disease	Hypotrichosis 14 (HYPT14) [MIM:618275]
P48449	ERG7_HUMAN	642	L	V	Polymorphism	-
P48449	ERG7_HUMAN	310	H	R	Polymorphism	-
P48449	ERG7_HUMAN	209	N	Y	Disease	Hypotrichosis 14 (HYPT14) [MIM:618275]
P48449	ERG7_HUMAN	614	R	W	Polymorphism	-
P48449	ERG7_HUMAN	175	R	Q	Polymorphism	-
P48449	ERG7_HUMAN	588	G	S	Disease	Cataract 44 (CTRCT44) [MIM:616509]
P48449	ERG7_HUMAN	391	F	S	Unclassified	Hypotrichosis 14 (HYPT14) [MIM:618275]
P48454	PP2BC_HUMAN	501	A	V	Polymorphism	-
P48506	GSH1_HUMAN	158	P	L	Disease	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450]
P48506	GSH1_HUMAN	462	P	S	Polymorphism	-
P48506	GSH1_HUMAN	370	H	L	Disease	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450]
P48506	GSH1_HUMAN	127	R	C	Disease	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450]
P48506	GSH1_HUMAN	55	L	S	Polymorphism	-
P48507	GSH0_HUMAN	209	I	M	Polymorphism	-
P48509	CD151_HUMAN	178	R	H	Polymorphism	-
P48509	CD151_HUMAN	137	P	S	Polymorphism	-
P48509	CD151_HUMAN	132	K	R	Polymorphism	-
P48509	CD151_HUMAN	120	T	M	Polymorphism	-
P48544	KCNJ5_HUMAN	39	R	H	Polymorphism	-
P48544	KCNJ5_HUMAN	157	I	S	Disease	Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677]
P48544	KCNJ5_HUMAN	151	G	E	Disease	Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677]
P48544	KCNJ5_HUMAN	348	Y	N	Disease	-
P48544	KCNJ5_HUMAN	168	L	R	Polymorphism	-
P48544	KCNJ5_HUMAN	152	Y	C	Disease	Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677]
P48544	KCNJ5_HUMAN	158	T	A	Disease	Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677]
P48544	KCNJ5_HUMAN	259	V	M	Unclassified	-
P48544	KCNJ5_HUMAN	151	G	R	Disease	Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677]
P48544	KCNJ5_HUMAN	387	G	R	Disease	Long QT syndrome 13 (LQT13) [MIM:613485]
P48544	KCNJ5_HUMAN	282	Q	E	Polymorphism	-
P48544	KCNJ5_HUMAN	210	M	I	Polymorphism	-
P48544	KCNJ5_HUMAN	145	E	Q	Unclassified	-
P48546	GIPR_HUMAN	207	A	V	Polymorphism	-
P48546	GIPR_HUMAN	136	R	W	Polymorphism	-
P48546	GIPR_HUMAN	354	E	Q	Polymorphism	-
P48546	GIPR_HUMAN	262	L	V	Polymorphism	-
P48547	KCNC1_HUMAN	320	R	H	Disease	Epilepsy, progressive myoclonic 7 (EPM7) [MIM:616187]
P48549	KCNJ3_HUMAN	40	K	R	Polymorphism	-
P48551	INAR2_HUMAN	8	F	S	Polymorphism	-
P48551	INAR2_HUMAN	10	F	V	Polymorphism	-
P48551	INAR2_HUMAN	196	I	V	Polymorphism	-
P48552	NRIP1_HUMAN	441	I	V	Polymorphism	-
P48552	NRIP1_HUMAN	37	V	I	Polymorphism	-
P48552	NRIP1_HUMAN	567	N	S	Polymorphism	-
P48552	NRIP1_HUMAN	221	H	R	Polymorphism	-
P48552	NRIP1_HUMAN	448	R	G	Polymorphism	-
P48552	NRIP1_HUMAN	803	S	L	Polymorphism	-
P48552	NRIP1_HUMAN	315	Y	F	Polymorphism	-
P48552	NRIP1_HUMAN	1079	V	F	Polymorphism	-
P48553	TPC10_HUMAN	257	V	E	Polymorphism	-
P48553	TPC10_HUMAN	726	V	M	Polymorphism	-
P48553	TPC10_HUMAN	633	I	M	Polymorphism	-
P48595	SPB10_HUMAN	140	P	S	Polymorphism	-
P48595	SPB10_HUMAN	99	I	T	Polymorphism	-
P48595	SPB10_HUMAN	360	D	N	Polymorphism	-
P48595	SPB10_HUMAN	41	I	M	Polymorphism	-
P48595	SPB10_HUMAN	246	R	C	Polymorphism	-
P48595	SPB10_HUMAN	135	G	D	Polymorphism	-
P48595	SPB10_HUMAN	3	S	A	Polymorphism	-
P48634	PRC2A_HUMAN	1563	R	Q	Polymorphism	-
P48634	PRC2A_HUMAN	1774	V	M	Polymorphism	-
P48634	PRC2A_HUMAN	1415	G	A	Polymorphism	-
P48634	PRC2A_HUMAN	1407	S	N	Polymorphism	-
P48634	PRC2A_HUMAN	2075	R	W	Polymorphism	-
P48634	PRC2A_HUMAN	106	P	L	Polymorphism	-
P48634	PRC2A_HUMAN	2006	P	S	Polymorphism	-
P48634	PRC2A_HUMAN	1744	G	A	Polymorphism	-
P48634	PRC2A_HUMAN	742	D	E	Polymorphism	-
P48634	PRC2A_HUMAN	1285	G	A	Polymorphism	-
P48634	PRC2A_HUMAN	1087	T	I	Unclassified	A breast cancer sample
P48634	PRC2A_HUMAN	694	Q	K	Polymorphism	-
P48634	PRC2A_HUMAN	1544	G	D	Polymorphism	-
P48634	PRC2A_HUMAN	1152	R	H	Unclassified	A breast cancer sample
P48634	PRC2A_HUMAN	804	R	C	Polymorphism	-
P48634	PRC2A_HUMAN	544	T	K	Polymorphism	-
P48634	PRC2A_HUMAN	1775	V	M	Polymorphism	-
P48634	PRC2A_HUMAN	2130	P	L	Polymorphism	-
P48634	PRC2A_HUMAN	1740	R	H	Polymorphism	-
P48634	PRC2A_HUMAN	1895	L	V	Polymorphism	-
P48634	PRC2A_HUMAN	1503	L	P	Polymorphism	-
P48634	PRC2A_HUMAN	477	R	C	Polymorphism	-
P48634	PRC2A_HUMAN	82	D	V	Polymorphism	-
P48634	PRC2A_HUMAN	57	P	R	Polymorphism	-
P48637	GSHB_HUMAN	188	L	P	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	254	L	R	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	267	R	W	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	219	D	A	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	236	R	Q	Polymorphism	-
P48637	GSHB_HUMAN	26	A	D	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	219	D	G	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	437	K	E	Polymorphism	-
P48637	GSHB_HUMAN	469	D	E	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	330	R	C	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	464	G	V	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	270	Y	C	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	301	L	P	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	286	L	Q	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	270	Y	H	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48637	GSHB_HUMAN	283	R	C	Disease	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P48643	TCPE_HUMAN	147	H	R	Disease	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP) [MIM:256840]
P48643	TCPE_HUMAN	146	E	V	Polymorphism	-
P48645	NMU_HUMAN	79	E	G	Polymorphism	-
P48645	NMU_HUMAN	148	F	L	Polymorphism	-
P48651	PTSS1_HUMAN	269	P	S	Disease	Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050]
P48651	PTSS1_HUMAN	265	L	P	Disease	Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050]
P48651	PTSS1_HUMAN	353	Q	R	Disease	Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050]
P48651	PTSS1_HUMAN	423	T	N	Polymorphism	-
P48668	K2C6C_HUMAN	481	V	I	Polymorphism	-
P48668	K2C6C_HUMAN	472	E	K	Disease	Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) [MIM:615735]
P48668	K2C6C_HUMAN	182	R	Q	Polymorphism	-
P48668	K2C6C_HUMAN	227	S	N	Polymorphism	-
P48681	NEST_HUMAN	1016	S	N	Polymorphism	-
P48681	NEST_HUMAN	1101	P	L	Polymorphism	-
P48681	NEST_HUMAN	130	V	A	Polymorphism	-
P48681	NEST_HUMAN	815	V	I	Polymorphism	-
P48681	NEST_HUMAN	1275	P	L	Polymorphism	-
P48681	NEST_HUMAN	1133	R	S	Polymorphism	-
P48728	GCST_HUMAN	296	R	C	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728	GCST_HUMAN	265	R	C	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728	GCST_HUMAN	47	G	R	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728	GCST_HUMAN	269	G	D	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728	GCST_HUMAN	276	D	H	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728	GCST_HUMAN	145	N	I	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728	GCST_HUMAN	211	E	K	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728	GCST_HUMAN	42	H	R	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728	GCST_HUMAN	94	R	W	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728	GCST_HUMAN	320	R	H	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728	GCST_HUMAN	222	R	C	Disease	Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48729	KC1A_HUMAN	297	D	H	Unclassified	A breast pleomorphic lobular carcinoma sample
P48730	KC1D_HUMAN	401	P	A	Polymorphism	-
P48730	KC1D_HUMAN	44	T	A	Disease	Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224]
P48730	KC1D_HUMAN	46	H	R	Disease	Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224]
P48730	KC1D_HUMAN	97	S	C	Unclassified	Breast cancer samples
P48735	IDHP_HUMAN	172	R	W	Polymorphism	-
P48735	IDHP_HUMAN	172	R	M	Disease	Glioma (GLM) [MIM:137800]
P48735	IDHP_HUMAN	172	R	K	Disease	Glioma (GLM) [MIM:137800]
P48735	IDHP_HUMAN	162	P	S	Disease	Glioma (GLM) [MIM:137800]
P48735	IDHP_HUMAN	140	R	Q	Disease	D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]
P48735	IDHP_HUMAN	172	R	T	Unclassified	-
P48735	IDHP_HUMAN	172	R	G	Disease	Glioma (GLM) [MIM:137800]
P48735	IDHP_HUMAN	172	R	S	Polymorphism	-
P48735	IDHP_HUMAN	158	P	L	Disease	Glioma (GLM) [MIM:137800]
P48735	IDHP_HUMAN	140	R	G	Disease	D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]
P48740	MASP1_HUMAN	21	T	I	Polymorphism	-
P48740	MASP1_HUMAN	679	G	R	Polymorphism	-
P48740	MASP1_HUMAN	568	V	A	Polymorphism	-
P48745	CCN3_HUMAN	233	R	H	Polymorphism	-
P48745	CCN3_HUMAN	42	R	Q	Polymorphism	-
P48751	B3A3_HUMAN	157	H	P	Polymorphism	-
P48751	B3A3_HUMAN	226	S	L	Polymorphism	-
P48751	B3A3_HUMAN	867	D	A	Polymorphism	-
P48764	SL9A3_HUMAN	382	R	Q	Disease	Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868]
P48764	SL9A3_HUMAN	127	A	T	Unclassified	Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868]
P48764	SL9A3_HUMAN	269	A	T	Disease	Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868]
P48764	SL9A3_HUMAN	799	C	R	Polymorphism	-
P48764	SL9A3_HUMAN	311	A	V	Disease	Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868]
P48775	T23O_HUMAN	108	M	I	Disease	Hypertryptophanemia (HYPTRP) [MIM:600627]
P48788	TNNI2_HUMAN	174	R	Q	Disease	Arthrogryposis, distal, 2B (DA2B) [MIM:601680]
P48960	CD97_HUMAN	367	R	Q	Polymorphism	-
P49005	DPOD2_HUMAN	303	N	S	Polymorphism	-
P49019	HCAR3_HUMAN	173	T	P	Polymorphism	-
P49019	HCAR3_HUMAN	317	I	M	Polymorphism	-
P49019	HCAR3_HUMAN	253	H	R	Polymorphism	-
P49019	HCAR3_HUMAN	346	I	M	Polymorphism	-
P49019	HCAR3_HUMAN	198	F	L	Polymorphism	-
P49019	HCAR3_HUMAN	350	G	S	Polymorphism	-
P49023	PAXI_HUMAN	73	S	G	Polymorphism	-
P49069	CAMLG_HUMAN	100	G	S	Polymorphism	-
P49069	CAMLG_HUMAN	78	V	I	Polymorphism	-
P49137	MAPK2_HUMAN	173	A	G	Polymorphism	-
P49137	MAPK2_HUMAN	361	A	S	Polymorphism	-
P49184	DNSL1_HUMAN	122	V	I	Polymorphism	-
P49189	AL9A1_HUMAN	116	C	S	Polymorphism	-
P49221	TGM4_HUMAN	249	S	T	Polymorphism	-
P49221	TGM4_HUMAN	313	E	K	Polymorphism	-
P49221	TGM4_HUMAN	244	Y	H	Polymorphism	-
P49221	TGM4_HUMAN	100	E	D	Polymorphism	-
P49221	TGM4_HUMAN	372	R	C	Polymorphism	-
P49221	TGM4_HUMAN	376	I	V	Polymorphism	-
P49221	TGM4_HUMAN	437	E	Q	Polymorphism	-
P49221	TGM4_HUMAN	372	R	H	Polymorphism	-
P49221	TGM4_HUMAN	409	V	I	Polymorphism	-
P49223	SPIT3_HUMAN	77	L	S	Polymorphism	-
P49238	CX3C1_HUMAN	122	V	I	Polymorphism	-
P49238	CX3C1_HUMAN	280	T	M	Polymorphism	-
P49238	CX3C1_HUMAN	57	T	A	Polymorphism	-
P49238	CX3C1_HUMAN	13	E	D	Polymorphism	-
P49238	CX3C1_HUMAN	249	V	I	Polymorphism	-
P49238	CX3C1_HUMAN	147	V	I	Polymorphism	-
P49247	RPIA_HUMAN	135	A	V	Disease	Ribose 5-phosphate isomerase deficiency (RPID) [MIM:608611]
P49257	LMAN1_HUMAN	39	V	A	Polymorphism	-
P49257	LMAN1_HUMAN	410	M	L	Polymorphism	-
P49257	LMAN1_HUMAN	355	I	T	Polymorphism	-
P49257	LMAN1_HUMAN	67	W	S	Disease	Factor V and factor VIII combined deficiency 1 (F5F8D1) [MIM:227300]
P49257	LMAN1_HUMAN	14	R	Q	Polymorphism	-
P49279	NRAM1_HUMAN	30	Q	R	Polymorphism	-
P49279	NRAM1_HUMAN	543	D	N	Polymorphism	-
P49279	NRAM1_HUMAN	318	A	V	Polymorphism	-
P49281	NRAM2_HUMAN	48	A	T	Unclassified	A colorectal cancer sample
P49281	NRAM2_HUMAN	399	E	D	Disease	Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100]
P49281	NRAM2_HUMAN	435	L	I	Polymorphism	-
P49281	NRAM2_HUMAN	416	R	C	Disease	Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100]
P49281	NRAM2_HUMAN	212	G	V	Disease	Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100]
P49286	MTR1B_HUMAN	66	L	F	Polymorphism	-
P49286	MTR1B_HUMAN	24	G	E	Polymorphism	-
P49286	MTR1B_HUMAN	231	R	H	Polymorphism	-
P49321	NASP_HUMAN	620	V	G	Polymorphism	-
P49326	FMO5_HUMAN	400	P	A	Polymorphism	-
P49326	FMO5_HUMAN	506	R	S	Polymorphism	-
P49326	FMO5_HUMAN	457	P	L	Polymorphism	-
P49327	FAS_HUMAN	1483	V	I	Polymorphism	-
P49327	FAS_HUMAN	1694	R	H	Polymorphism	-
P49327	FAS_HUMAN	477	R	H	Polymorphism	-
P49327	FAS_HUMAN	1888	I	V	Polymorphism	-
P49335	PO3F4_HUMAN	330	R	S	Disease	Deafness, X-linked, 2 (DFNX2) [MIM:304400]
P49335	PO3F4_HUMAN	312	A	V	Disease	Deafness, X-linked, 2 (DFNX2) [MIM:304400]
P49335	PO3F4_HUMAN	237	G	A	Polymorphism	-
P49335	PO3F4_HUMAN	323	R	G	Disease	Deafness, X-linked, 2 (DFNX2) [MIM:304400]
P49335	PO3F4_HUMAN	317	L	W	Disease	Deafness, X-linked, 2 (DFNX2) [MIM:304400]
P49335	PO3F4_HUMAN	334	K	E	Disease	Deafness, X-linked, 2 (DFNX2) [MIM:304400]
P49336	CDK8_HUMAN	424	R	C	Unclassified	A colorectal adenocarcinoma sample
P49336	CDK8_HUMAN	189	D	N	Unclassified	A lung neuroendocrine carcinoma sample
P49366	DHYS_HUMAN	174	E	D	Polymorphism	-
P49368	TCPG_HUMAN	391	L	F	Polymorphism	-
P49411	EFTU_HUMAN	336	R	Q	Disease	Combined oxidative phosphorylation deficiency 4 (COXPD4) [MIM:610678]
P49418	AMPH_HUMAN	376	M	I	Polymorphism	-
P49418	AMPH_HUMAN	218	K	E	Polymorphism	-
P49418	AMPH_HUMAN	496	K	T	Polymorphism	-
P49419	AL7A1_HUMAN	412	T	A	Polymorphism	-
P49419	AL7A1_HUMAN	199	A	V	Disease	Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419	AL7A1_HUMAN	395	V	G	Disease	Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419	AL7A1_HUMAN	439	K	Q	Polymorphism	-
P49419	AL7A1_HUMAN	202	G	V	Disease	Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419	AL7A1_HUMAN	335	R	Q	Disease	Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419	AL7A1_HUMAN	291	G	E	Disease	Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419	AL7A1_HUMAN	301	N	I	Disease	Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419	AL7A1_HUMAN	458	S	N	Disease	Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419	AL7A1_HUMAN	427	E	Q	Disease	Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49427	UB2R1_HUMAN	227	D	H	Polymorphism	-
P49441	INPP_HUMAN	228	T	A	Polymorphism	-
P49441	INPP_HUMAN	355	V	M	Polymorphism	-
P49447	CY561_HUMAN	88	G	R	Disease	Orthostatic hypotension 2 (ORTHYP2) [MIM:618182]
P49448	DHE4_HUMAN	498	S	A	Polymorphism	-
P49454	CENPF_HUMAN	494	H	Q	Polymorphism	-
P49454	CENPF_HUMAN	701	M	V	Polymorphism	-
P49454	CENPF_HUMAN	300	R	C	Polymorphism	-
P49454	CENPF_HUMAN	272	D	G	Polymorphism	-
P49454	CENPF_HUMAN	1768	D	N	Polymorphism	-
P49454	CENPF_HUMAN	1915	E	A	Polymorphism	-
P49454	CENPF_HUMAN	1018	Y	D	Polymorphism	-
P49454	CENPF_HUMAN	250	Q	L	Polymorphism	-
P49454	CENPF_HUMAN	1033	G	R	Polymorphism	-
P49454	CENPF_HUMAN	1412	L	S	Polymorphism	-
P49454	CENPF_HUMAN	815	R	H	Polymorphism	-
P49454	CENPF_HUMAN	3106	N	K	Polymorphism	-
P49454	CENPF_HUMAN	754	Q	E	Polymorphism	-
P49454	CENPF_HUMAN	1105	T	I	Polymorphism	-
P49459	UBE2A_HUMAN	11	R	Q	Disease	Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860]
P49459	UBE2A_HUMAN	23	G	R	Disease	Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860]
P49585	PCY1A_HUMAN	129	E	K	Disease	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P49585	PCY1A_HUMAN	223	R	S	Disease	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P49585	PCY1A_HUMAN	191	F	L	Disease	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P49585	PCY1A_HUMAN	99	A	V	Disease	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P49585	PCY1A_HUMAN	150	P	A	Disease	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P49585	PCY1A_HUMAN	99	A	T	Disease	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P49588	SYAC_HUMAN	913	G	D	Disease	Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339]
P49588	SYAC_HUMAN	71	N	Y	Disease	Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
P49588	SYAC_HUMAN	608	T	M	Unclassified	-
P49588	SYAC_HUMAN	275	G	D	Polymorphism	-
P49588	SYAC_HUMAN	81	K	T	Disease	Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339]
P49588	SYAC_HUMAN	751	R	G	Disease	Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339]
P49588	SYAC_HUMAN	329	R	H	Disease	Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
P49590	SYHM_HUMAN	368	V	L	Disease	Perrault syndrome 2 (PRLTS2) [MIM:614926]
P49590	SYHM_HUMAN	200	L	V	Disease	Perrault syndrome 2 (PRLTS2) [MIM:614926]
P49591	SYSC_HUMAN	172	D	N	Disease	Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) [MIM:617709]
P49593	PPM1F_HUMAN	420	L	R	Polymorphism	-
P49593	PPM1F_HUMAN	296	R	Q	Unclassified	A colorectal cancer sample
P49593	PPM1F_HUMAN	417	Q	K	Unclassified	A breast cancer sample
P49593	PPM1F_HUMAN	132	R	C	Polymorphism	-
P49619	DGKG_HUMAN	370	R	W	Polymorphism	-
P49619	DGKG_HUMAN	706	E	K	Unclassified	A breast cancer sample
P49619	DGKG_HUMAN	316	R	K	Polymorphism	-
P49619	DGKG_HUMAN	142	T	S	Polymorphism	-
P49638	TTPA_HUMAN	101	H	Q	Disease	Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
P49638	TTPA_HUMAN	172	T	S	Polymorphism	-
P49638	TTPA_HUMAN	59	R	W	Disease	Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
P49638	TTPA_HUMAN	141	E	K	Disease	Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
P49638	TTPA_HUMAN	221	R	W	Disease	Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
P49638	TTPA_HUMAN	246	G	R	Disease	Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
P49638	TTPA_HUMAN	192	R	H	Disease	Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
P49638	TTPA_HUMAN	120	A	T	Disease	Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
P49639	HXA1_HUMAN	189	E	A	Polymorphism	-
P49639	HXA1_HUMAN	73	H	R	Polymorphism	-
P49641	MA2A2_HUMAN	665	S	F	Polymorphism	-
P49641	MA2A2_HUMAN	412	Q	R	Polymorphism	-
P49642	PRI1_HUMAN	5	D	A	Polymorphism	-
P49643	PRI2_HUMAN	204	D	G	Polymorphism	-
P49643	PRI2_HUMAN	181	E	K	Polymorphism	-
P49643	PRI2_HUMAN	287	C	Y	Polymorphism	-
P49643	PRI2_HUMAN	265	Q	L	Polymorphism	-
P49643	PRI2_HUMAN	259	G	S	Polymorphism	-
P49643	PRI2_HUMAN	446	Q	H	Polymorphism	-
P49643	PRI2_HUMAN	465	P	S	Polymorphism	-
P49662	CASP4_HUMAN	284	E	D	Polymorphism	-
P49662	CASP4_HUMAN	134	R	C	Polymorphism	-
P49662	CASP4_HUMAN	47	D	N	Polymorphism	-
P49674	KC1E_HUMAN	256	R	L	Unclassified	A lung adenocarcinoma sample
P49674	KC1E_HUMAN	413	H	R	Polymorphism	-
P49675	STAR_HUMAN	182	R	L	Disease	Adrenal hyperplasia 1 (AH1) [MIM:201710]
P49675	STAR_HUMAN	218	A	V	Disease	Adrenal hyperplasia 1 (AH1) [MIM:201710]
P49675	STAR_HUMAN	225	M	T	Disease	Adrenal hyperplasia 1 (AH1) [MIM:201710]
P49675	STAR_HUMAN	121	R	W	Polymorphism	-
P49675	STAR_HUMAN	169	E	K	Disease	Adrenal hyperplasia 1 (AH1) [MIM:201710]
P49675	STAR_HUMAN	169	E	G	Disease	Adrenal hyperplasia 1 (AH1) [MIM:201710]
P49675	STAR_HUMAN	217	R	T	Disease	Adrenal hyperplasia 1 (AH1) [MIM:201710]
P49675	STAR_HUMAN	275	L	P	Disease	Adrenal hyperplasia 1 (AH1) [MIM:201710]
P49675	STAR_HUMAN	203	A	D	Polymorphism	-
P49682	CXCR3_HUMAN	363	A	T	Polymorphism	-
P49682	CXCR3_HUMAN	292	R	Q	Polymorphism	-
P49683	PRLHR_HUMAN	283	I	V	Polymorphism	-
P49683	PRLHR_HUMAN	302	D	G	Polymorphism	-
P49685	GPR15_HUMAN	37	P	S	Polymorphism	-
P49685	GPR15_HUMAN	112	M	V	Polymorphism	-
P49703	ARL4D_HUMAN	91	T	N	Polymorphism	-
P49711	CTCF_HUMAN	342	R	H	Unclassified	-
P49711	CTCF_HUMAN	344	K	E	Unclassified	A breast tumor
P49711	CTCF_HUMAN	567	R	W	Disease	Mental retardation, autosomal dominant 21 (MRD21) [MIM:615502]
P49711	CTCF_HUMAN	345	H	R	Unclassified	A prostate tumor
P49711	CTCF_HUMAN	278	R	C	Unclassified	-
P49711	CTCF_HUMAN	448	R	Q	Unclassified	A Wilms' tumor
P49711	CTCF_HUMAN	339	R	W	Unclassified	A Wilms' tumor
P49711	CTCF_HUMAN	365	K	T	Unclassified	-
P49715	CEBPA_HUMAN	84	H	L	Disease	Leukemia, acute myelogenous (AML) [MIM:601626]
P49716	CEBPD_HUMAN	248	R	W	Polymorphism	-
P49720	PSB3_HUMAN	34	M	L	Polymorphism	-
P49736	MCM2_HUMAN	135	L	F	Polymorphism	-
P49736	MCM2_HUMAN	44	R	C	Disease	Deafness, autosomal dominant, 70 (DFNA70) [MIM:616968]
P49736	MCM2_HUMAN	501	G	R	Polymorphism	-
P49736	MCM2_HUMAN	166	E	Q	Polymorphism	-
P49736	MCM2_HUMAN	68	D	E	Polymorphism	-
P49736	MCM2_HUMAN	727	A	T	Polymorphism	-
P49736	MCM2_HUMAN	396	A	T	Polymorphism	-
P49736	MCM2_HUMAN	667	V	M	Polymorphism	-
P49746	TSP3_HUMAN	279	S	G	Polymorphism	-
P49746	TSP3_HUMAN	955	R	G	Unclassified	A breast cancer sample
P49747	COMP_HUMAN	420	D	A	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	348	C	R	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	299	G	R	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	349	D	V	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	719	G	D	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	410	C	Y	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	585	T	R	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	328	C	R	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	371	C	Y	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	290	D	N	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	276	P	R	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	376	D	N	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	378	D	V	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	404	G	R	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	415	N	K	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	453	N	S	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	468	C	Y	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	473	D	H	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	342	D	Y	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	397	D	H	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	440	G	R	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	361	D	V	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	385	D	N	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	385	D	Y	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	387	C	R	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	408	D	Y	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	446	D	N	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	475	D	N	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	224	R	G	Polymorphism	-
P49747	COMP_HUMAN	427	G	E	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	361	D	Y	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	501	G	D	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	311	A	D	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	290	D	G	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	285	R	P	Polymorphism	-
P49747	COMP_HUMAN	482	D	G	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	326	D	G	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	719	G	S	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	585	T	M	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	529	T	I	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	518	D	N	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	317	D	G	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	440	G	E	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	109	A	G	Polymorphism	-
P49747	COMP_HUMAN	348	C	F	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	756	Q	R	Polymorphism	-
P49747	COMP_HUMAN	472	D	Y	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	511	D	G	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	50	E	D	Polymorphism	-
P49747	COMP_HUMAN	473	D	G	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	234	P	S	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	523	N	K	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	718	R	W	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	448	C	S	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	515	D	G	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	585	T	R	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	51	L	W	Polymorphism	-
P49747	COMP_HUMAN	387	C	G	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	326	D	Y	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	167	G	E	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	374	D	N	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	718	R	P	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	371	C	S	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49747	COMP_HUMAN	507	D	G	Disease	Pseudoachondroplasia (PSACH) [MIM:177170]
P49747	COMP_HUMAN	381	R	C	Polymorphism	-
P49747	COMP_HUMAN	298	S	L	Disease	Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
P49748	ACADV_HUMAN	490	A	P	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	456	R	H	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	317	V	A	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	453	R	Q	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	159	Q	R	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	534	E	K	Unclassified	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	247	K	E	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	290	G	D	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	281	A	D	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	185	G	S	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	294	G	E	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	299	K	N	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	283	V	A	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	174	V	M	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	213	A	P	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	158	T	N	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	450	R	H	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	260	T	M	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	623	S	F	Polymorphism	-
P49748	ACADV_HUMAN	602	L	I	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	366	R	C	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	382	K	Q	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	218	E	K	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	459	R	W	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	463	G	E	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	502	L	P	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	405	D	H	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	352	M	V	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	469	R	Q	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	458	F	L	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	454	D	N	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	43	G	D	Polymorphism	-
P49748	ACADV_HUMAN	366	R	H	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	613	R	W	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	615	R	Q	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	359	A	S	Polymorphism	-
P49748	ACADV_HUMAN	17	L	F	Polymorphism	-
P49748	ACADV_HUMAN	243	L	R	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	469	R	W	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	247	K	T	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49748	ACADV_HUMAN	65	P	L	Polymorphism	-
P49748	ACADV_HUMAN	441	G	D	Disease	Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
P49753	ACOT2_HUMAN	475	H	R	Polymorphism	-
P49753	ACOT2_HUMAN	16	R	S	Polymorphism	-
P49754	VPS41_HUMAN	647	C	R	Polymorphism	-
P49754	VPS41_HUMAN	843	R	H	Polymorphism	-
P49754	VPS41_HUMAN	146	T	P	Polymorphism	-
P49755	TMEDA_HUMAN	152	R	G	Polymorphism	-
P49755	TMEDA_HUMAN	64	S	Y	Polymorphism	-
P49757	NUMB_HUMAN	387	V	I	Polymorphism	-
P49757	NUMB_HUMAN	595	G	D	Polymorphism	-
P49759	CLK1_HUMAN	307	P	S	Polymorphism	-
P49759	CLK1_HUMAN	61	S	F	Polymorphism	-
P49759	CLK1_HUMAN	459	E	G	Polymorphism	-
P49759	CLK1_HUMAN	440	M	T	Polymorphism	-
P49759	CLK1_HUMAN	99	N	D	Polymorphism	-
P49759	CLK1_HUMAN	118	R	G	Polymorphism	-
P49761	CLK3_HUMAN	486	R	C	Polymorphism	-
P49761	CLK3_HUMAN	607	Q	R	Polymorphism	-
P49761	CLK3_HUMAN	628	R	W	Polymorphism	-
P49768	PSN1_HUMAN	143	I	F	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	79	A	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	83	I	T	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	166	L	P	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	115	Y	C	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	174	L	M	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	153	L	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	139	M	I	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	35	R	Q	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	235	L	P	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	146	M	L	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	163	H	R	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	143	I	T	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	209	G	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	120	E	D	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	171	L	P	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	177	F	L	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	113	L	P	Disease	Frontotemporal dementia (FTD) [MIM:600274]
P49768	PSN1_HUMAN	82	V	L	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	120	E	K	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	214	H	Y	Disease	-
P49768	PSN1_HUMAN	233	M	T	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	408	I	T	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	146	M	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	117	P	S	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	96	V	F	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	333	D	G	Disease	Cardiomyopathy, dilated 1U (CMD1U) [MIM:613694]
P49768	PSN1_HUMAN	246	A	E	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	139	M	T	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	213	I	T	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	436	P	Q	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	184	E	D	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	139	M	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	116	T	I	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	169	S	L	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	435	L	F	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	169	S	P	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	396	A	T	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	282	L	R	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	217	G	R	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	354	T	I	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	392	L	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	89	V	L	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	163	H	Y	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	436	P	S	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	266	G	S	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	134	L	R	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	177	F	S	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	365	S	Y	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	92	C	S	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	97	V	L	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	235	L	R	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	105	F	L	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	183	G	V	Unclassified	Pick disease of the brain (PIDB) [MIM:172700]
P49768	PSN1_HUMAN	229	I	F	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	439	I	V	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	85	L	P	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	115	Y	H	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	146	M	I	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	431	A	E	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	405	N	S	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	205	F	L	Polymorphism	-
P49768	PSN1_HUMAN	315	Y	C	Unclassified	-
P49768	PSN1_HUMAN	271	L	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	410	C	Y	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	237	F	I	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	269	R	G	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	377	R	M	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	183	G	V	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	231	A	T	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	154	Y	C	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	117	P	L	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	390	S	I	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	278	R	I	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	262	L	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	280	E	A	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	233	M	L	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	237	F	L	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	278	R	T	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	219	L	P	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	264	P	L	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	417	G	A	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	231	A	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	206	G	A	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	418	L	F	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	394	G	V	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	358	R	Q	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	116	T	N	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	426	A	P	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	206	G	D	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	135	N	D	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	275	A	V	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	94	V	M	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	280	E	G	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	235	L	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	274	T	R	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	173	L	W	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	261	V	F	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	311	K	R	Disease	-
P49768	PSN1_HUMAN	263	C	F	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	378	G	E	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	286	L	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	318	E	G	Polymorphism	-
P49768	PSN1_HUMAN	381	L	F	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	263	C	R	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	285	A	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	381	L	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	282	L	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	289	S	C	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	409	A	T	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	147	T	I	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	267	P	S	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	262	L	F	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	250	L	S	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	209	G	E	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	378	G	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	139	M	K	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	209	G	R	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	267	P	T	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	206	G	S	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	213	I	L	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	260	A	V	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	222	Q	R	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	142	V	F	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	384	G	A	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	178	S	P	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	170	S	F	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	159	Y	F	Unclassified	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	154	Y	N	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	269	R	H	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49768	PSN1_HUMAN	165	W	C	Disease	Alzheimer disease 3 (AD3) [MIM:607822]
P49770	EI2BB_HUMAN	213	E	G	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
P49770	EI2BB_HUMAN	329	G	V	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
P49770	EI2BB_HUMAN	127	A	V	Unclassified	-
P49770	EI2BB_HUMAN	273	K	R	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
P49770	EI2BB_HUMAN	196	P	S	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
P49770	EI2BB_HUMAN	268	C	Y	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
P49770	EI2BB_HUMAN	171	S	F	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
P49770	EI2BB_HUMAN	316	V	D	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
P49770	EI2BB_HUMAN	200	G	V	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
P49770	EI2BB_HUMAN	85	V	E	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
P49773	HINT1_HUMAN	84	C	R	Disease	Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
P49773	HINT1_HUMAN	37	R	P	Disease	Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
P49773	HINT1_HUMAN	93	G	D	Disease	Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
P49773	HINT1_HUMAN	112	H	N	Disease	Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
P49773	HINT1_HUMAN	89	G	V	Disease	Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
P49773	HINT1_HUMAN	51	H	R	Disease	Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
P49788	TIG1_HUMAN	42	D	G	Polymorphism	-
P49788	TIG1_HUMAN	158	D	V	Polymorphism	-
P49790	NU153_HUMAN	248	I	V	Polymorphism	-
P49790	NU153_HUMAN	827	A	T	Polymorphism	-
P49790	NU153_HUMAN	90	D	N	Polymorphism	-
P49790	NU153_HUMAN	821	P	L	Polymorphism	-
P49790	NU153_HUMAN	1388	T	A	Polymorphism	-
P49790	NU153_HUMAN	402	N	K	Polymorphism	-
P49790	NU153_HUMAN	381	V	F	Polymorphism	-
P49792	RBP2_HUMAN	1892	P	R	Polymorphism	-
P49792	RBP2_HUMAN	1892	P	A	Polymorphism	-
P49792	RBP2_HUMAN	653	T	I	Disease	Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033]
P49792	RBP2_HUMAN	784	R	K	Polymorphism	-
P49792	RBP2_HUMAN	580	E	K	Polymorphism	-
P49792	RBP2_HUMAN	725	S	G	Polymorphism	-
P49792	RBP2_HUMAN	581	C	Y	Polymorphism	-
P49792	RBP2_HUMAN	548	V	L	Polymorphism	-
P49792	RBP2_HUMAN	656	I	V	Disease	Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033]
P49792	RBP2_HUMAN	1870	P	L	Polymorphism	-
P49792	RBP2_HUMAN	585	T	M	Disease	Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033]
P49796	RGS3_HUMAN	809	R	Q	Polymorphism	-
P49796	RGS3_HUMAN	129	R	K	Polymorphism	-
P49798	RGS4_HUMAN	195	A	S	Polymorphism	-
P49802	RGS7_HUMAN	409	Q	H	Polymorphism	-
P49802	RGS7_HUMAN	137	M	L	Polymorphism	-
P49810	PSN2_HUMAN	126	E	K	Unclassified	Alzheimer disease 4 (AD4) [MIM:606889]
P49810	PSN2_HUMAN	130	S	L	Unclassified	Cardiomyopathy, dilated 1V (CMD1V) [MIM:613697]
P49810	PSN2_HUMAN	239	M	V	Disease	Alzheimer disease 4 (AD4) [MIM:606889]
P49810	PSN2_HUMAN	71	R	W	Unclassified	Alzheimer disease 4 (AD4) [MIM:606889]
P49810	PSN2_HUMAN	141	N	Y	Disease	Alzheimer disease 4 (AD4) [MIM:606889]
P49810	PSN2_HUMAN	122	T	R	Disease	Alzheimer disease 4 (AD4) [MIM:606889]
P49810	PSN2_HUMAN	122	T	P	Disease	Alzheimer disease 4 (AD4) [MIM:606889]
P49810	PSN2_HUMAN	141	N	I	Disease	Alzheimer disease 4 (AD4) [MIM:606889]
P49810	PSN2_HUMAN	62	R	H	Unclassified	Alzheimer disease 4 (AD4) [MIM:606889]
P49810	PSN2_HUMAN	239	M	I	Disease	Alzheimer disease 4 (AD4) [MIM:606889]
P49810	PSN2_HUMAN	148	V	I	Disease	Alzheimer disease 4 (AD4) [MIM:606889]
P49810	PSN2_HUMAN	130	S	L	Unclassified	Alzheimer disease 4 (AD4) [MIM:606889]
P49815	TSC2_HUMAN	1712	A	E	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	611	R	W	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1329	R	H	Polymorphism	-
P49815	TSC2_HUMAN	1709	P	L	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1315	P	S	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	286	M	T	Polymorphism	-
P49815	TSC2_HUMAN	137	H	R	Unclassified	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	258	K	N	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	261	R	P	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1653	S	F	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	294	G	E	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	361	L	P	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	963	V	M	Unclassified	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	895	M	V	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	717	L	R	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	611	R	Q	Disease	Lymphangioleiomyomatosis (LAM) [MIM:606690]
P49815	TSC2_HUMAN	1743	R	Q	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	593	H	R	Polymorphism	-
P49815	TSC2_HUMAN	292	L	P	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	802	S	R	Polymorphism	-
P49815	TSC2_HUMAN	599	K	M	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	367	R	Q	Polymorphism	-
P49815	TSC2_HUMAN	1773	H	P	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	331	N	K	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	320	L	F	Polymorphism	-
P49815	TSC2_HUMAN	160	L	V	Polymorphism	-
P49815	TSC2_HUMAN	1643	N	I	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1594	L	M	Unclassified	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	769	V	E	Unclassified	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1547	V	I	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
P49815	TSC2_HUMAN	696	C	Y	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	261	R	W	Polymorphism	-
P49815	TSC2_HUMAN	309	L	Q	Polymorphism	-
P49815	TSC2_HUMAN	490	I	V	Polymorphism	-
P49815	TSC2_HUMAN	440	G	S	Polymorphism	-
P49815	TSC2_HUMAN	816	P	L	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	905	R	Q	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	449	M	I	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1497	P	R	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	647	D	N	Unclassified	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	286	M	V	Polymorphism	-
P49815	TSC2_HUMAN	378	P	L	Polymorphism	-
P49815	TSC2_HUMAN	1636	D	N	Polymorphism	-
P49815	TSC2_HUMAN	1144	V	M	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	536	A	V	Polymorphism	-
P49815	TSC2_HUMAN	583	A	T	Polymorphism	-
P49815	TSC2_HUMAN	227	C	Y	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1783	E	Q	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	614	A	D	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1141	A	V	Polymorphism	-
P49815	TSC2_HUMAN	1498	S	N	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	611	R	Q	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	463	I	V	Polymorphism	-
P49815	TSC2_HUMAN	1450	P	R	Polymorphism	-
P49815	TSC2_HUMAN	1549	Y	C	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1704	S	T	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1651	N	S	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1282	S	G	Polymorphism	-
P49815	TSC2_HUMAN	607	A	T	Polymorphism	-
P49815	TSC2_HUMAN	1341	S	R	Polymorphism	-
P49815	TSC2_HUMAN	1200	R	W	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1240	R	W	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	619	L	F	Polymorphism	-
P49815	TSC2_HUMAN	1743	R	P	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1681	N	K	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	94	P	T	Polymorphism	-
P49815	TSC2_HUMAN	1650	Y	C	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1690	D	Y	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	905	R	W	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1227	P	L	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1027	L	P	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	862	A	V	Polymorphism	-
P49815	TSC2_HUMAN	1787	G	S	Polymorphism	-
P49815	TSC2_HUMAN	525	N	S	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1750	L	F	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1620	H	Y	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	407	Y	D	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1429	A	S	Polymorphism	-
P49815	TSC2_HUMAN	486	N	I	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1643	N	K	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1744	L	P	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	615	F	S	Polymorphism	-
P49815	TSC2_HUMAN	1084	D	E	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1295	D	V	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1675	P	L	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49815	TSC2_HUMAN	1673	V	L	Polymorphism	-
P49815	TSC2_HUMAN	1791	G	S	Polymorphism	-
P49815	TSC2_HUMAN	1774	S	T	Polymorphism	-
P49815	TSC2_HUMAN	826	L	M	Disease	Tuberous sclerosis 2 (TSC2) [MIM:613254]
P49821	NDUV1_HUMAN	423	T	M	Disease	Mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225]
P49821	NDUV1_HUMAN	214	E	K	Disease	Mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225]
P49821	NDUV1_HUMAN	341	A	V	Disease	Mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225]
P49821	NDUV1_HUMAN	76	I	V	Polymorphism	-
P49821	NDUV1_HUMAN	277	N	Y	Polymorphism	-
P49840	GSK3A_HUMAN	109	Q	E	Polymorphism	-
P49840	GSK3A_HUMAN	461	L	F	Polymorphism	-
P49842	STK19_HUMAN	89	D	N	Polymorphism	-
P49842	STK19_HUMAN	39	A	D	Polymorphism	-
P49842	STK19_HUMAN	311	S	G	Polymorphism	-
P49842	STK19_HUMAN	331	A	V	Polymorphism	-
P49848	TAF6_HUMAN	71	I	T	Disease	Alazami-Yuan syndrome (ALYUS) [MIM:617126]
P49848	TAF6_HUMAN	46	R	C	Disease	Alazami-Yuan syndrome (ALYUS) [MIM:617126]
P49848	TAF6_HUMAN	36	C	S	Polymorphism	-
P49888	ST1E1_HUMAN	22	D	Y	Polymorphism	-
P49902	5NTC_HUMAN	460	L	P	Unclassified	Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162]
P49902	5NTC_HUMAN	136	Q	R	Polymorphism	-
P49902	5NTC_HUMAN	3	T	A	Polymorphism	-
P49908	SEPP1_HUMAN	368	R	C	Polymorphism	-
P49908	SEPP1_HUMAN	234	A	T	Polymorphism	-
P49908	SEPP1_HUMAN	314	S	P	Polymorphism	-
P49908	SEPP1_HUMAN	278	R	Q	Polymorphism	-
P49908	SEPP1_HUMAN	112	P	S	Polymorphism	-
P49914	MTHFS_HUMAN	202	T	A	Polymorphism	-
P49916	DNLI3_HUMAN	898	K	T	Polymorphism	-
P49916	DNLI3_HUMAN	224	R	W	Polymorphism	-
P49916	DNLI3_HUMAN	768	Y	H	Polymorphism	-
P49916	DNLI3_HUMAN	867	R	H	Polymorphism	-
P49916	DNLI3_HUMAN	986	P	S	Polymorphism	-
P49916	DNLI3_HUMAN	717	D	N	Unclassified	A colorectal cancer sample
P49917	DNLI4_HUMAN	3	A	V	Polymorphism	-
P49917	DNLI4_HUMAN	774	L	P	Unclassified	-
P49917	DNLI4_HUMAN	231	P	S	Polymorphism	-
P49917	DNLI4_HUMAN	278	R	H	Unclassified	Leukemia
P49917	DNLI4_HUMAN	658	I	V	Polymorphism	-
P49917	DNLI4_HUMAN	539	L	F	Polymorphism	-
P49917	DNLI4_HUMAN	469	G	E	Disease	LIG4 syndrome (LIG4S) [MIM:606593]
P49917	DNLI4_HUMAN	62	D	H	Polymorphism	-
P49917	DNLI4_HUMAN	857	A	T	Polymorphism	-
P49917	DNLI4_HUMAN	9	T	I	Polymorphism	-
P49917	DNLI4_HUMAN	461	E	G	Polymorphism	-
P49917	DNLI4_HUMAN	278	R	H	Disease	LIG4 syndrome (LIG4S) [MIM:606593]
P49918	CDN1C_HUMAN	279	R	P	Disease	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]
P49918	CDN1C_HUMAN	276	F	S	Disease	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]
P49918	CDN1C_HUMAN	53	L	P	Disease	Beckwith-Wiedemann syndrome (BWS) [MIM:130650]
P49918	CDN1C_HUMAN	278	K	E	Disease	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]
P49918	CDN1C_HUMAN	276	F	V	Disease	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]
P49918	CDN1C_HUMAN	70	P	L	Disease	Beckwith-Wiedemann syndrome (BWS) [MIM:130650]
P49918	CDN1C_HUMAN	274	D	N	Disease	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]
P49918	CDN1C_HUMAN	12	M	L	Unclassified	Beckwith-Wiedemann syndrome (BWS) [MIM:130650]
P49918	CDN1C_HUMAN	158	P	A	Unclassified	Beckwith-Wiedemann syndrome (BWS) [MIM:130650]
P49959	MRE11_HUMAN	237	F	C	Unclassified	A breast cancer sample
P49959	MRE11_HUMAN	302	H	Y	Unclassified	A breast cancer sample
P49959	MRE11_HUMAN	572	R	Q	Unclassified	Cancer
P49959	MRE11_HUMAN	117	N	S	Disease	Ataxia-telangiectasia-like disorder 1 (ATLD1) [MIM:604391]
P49959	MRE11_HUMAN	104	S	C	Unclassified	Cancer
P49959	MRE11_HUMAN	157	M	V	Polymorphism	-
P49959	MRE11_HUMAN	305	R	W	Unclassified	Ovarian cancer
P49959	MRE11_HUMAN	503	R	H	Unclassified	Cancer
P49959	MRE11_HUMAN	698	M	V	Polymorphism	-
P49959	MRE11_HUMAN	468	D	G	Polymorphism	-
P49961	ENTP1_HUMAN	210	G	R	Disease	Spastic paraplegia 64, autosomal recessive (SPG64) [MIM:615683]
P49961	ENTP1_HUMAN	293	V	I	Polymorphism	-
P50052	AGTR2_HUMAN	231	Y	H	Polymorphism	-
P50052	AGTR2_HUMAN	268	C	W	Polymorphism	-
P50052	AGTR2_HUMAN	337	I	V	Unclassified	-
P50052	AGTR2_HUMAN	248	R	K	Polymorphism	-
P50052	AGTR2_HUMAN	324	R	Q	Unclassified	-
P50052	AGTR2_HUMAN	21	G	V	Unclassified	-
P50053	KHK_HUMAN	40	G	R	Disease	Fructosuria (FRUCT) [MIM:229800]
P50053	KHK_HUMAN	43	A	T	Disease	Fructosuria (FRUCT) [MIM:229800]
P50053	KHK_HUMAN	49	V	I	Polymorphism	-
P50135	HNMT_HUMAN	105	T	I	Polymorphism	-
P50135	HNMT_HUMAN	60	G	D	Disease	Mental retardation, autosomal recessive 51 (MRT51) [MIM:616739]
P50135	HNMT_HUMAN	208	L	P	Disease	Mental retardation, autosomal recessive 51 (MRT51) [MIM:616739]
P50148	GNAQ_HUMAN	209	Q	L	Polymorphism	-
P50148	GNAQ_HUMAN	355	E	D	Polymorphism	-
P50148	GNAQ_HUMAN	183	R	Q	Disease	Sturge-Weber syndrome (SWS) [MIM:185300]
P50219	MNX1_HUMAN	289	F	S	Disease	Currarino syndrome (CURRAS) [MIM:176450]
P50219	MNX1_HUMAN	243	R	W	Disease	Currarino syndrome (CURRAS) [MIM:176450]
P50219	MNX1_HUMAN	292	R	W	Disease	Currarino syndrome (CURRAS) [MIM:176450]
P50219	MNX1_HUMAN	293	R	W	Disease	Currarino syndrome (CURRAS) [MIM:176450]
P50219	MNX1_HUMAN	246	T	S	Disease	Currarino syndrome (CURRAS) [MIM:176450]
P50219	MNX1_HUMAN	288	W	G	Disease	Currarino syndrome (CURRAS) [MIM:176450]
P50219	MNX1_HUMAN	288	W	L	Disease	Currarino syndrome (CURRAS) [MIM:176450]
P50219	MNX1_HUMAN	245	R	H	Disease	Currarino syndrome (CURRAS) [MIM:176450]
P50219	MNX1_HUMAN	290	Q	P	Disease	Currarino syndrome (CURRAS) [MIM:176450]
P50219	MNX1_HUMAN	293	R	Q	Disease	Currarino syndrome (CURRAS) [MIM:176450]
P50219	MNX1_HUMAN	245	R	G	Disease	Currarino syndrome (CURRAS) [MIM:176450]
P50221	MEOX1_HUMAN	27	S	L	Polymorphism	-
P50222	MEOX2_HUMAN	287	I	L	Polymorphism	-
P50225	ST1A1_HUMAN	37	R	Q	Polymorphism	-
P50225	ST1A1_HUMAN	151	E	Q	Polymorphism	-
P50225	ST1A1_HUMAN	223	V	M	Polymorphism	-
P50225	ST1A1_HUMAN	213	R	H	Polymorphism	-
P50225	ST1A1_HUMAN	282	E	K	Polymorphism	-
P50225	ST1A1_HUMAN	151	E	D	Polymorphism	-
P50225	ST1A1_HUMAN	235	N	T	Polymorphism	-
P50226	ST1A2_HUMAN	7	I	T	Polymorphism	-
P50226	ST1A2_HUMAN	235	N	T	Polymorphism	-
P50226	ST1A2_HUMAN	239	N	S	Polymorphism	-
P50226	ST1A2_HUMAN	19	P	L	Polymorphism	-
P50226	ST1A2_HUMAN	282	K	E	Polymorphism	-
P50226	ST1A2_HUMAN	62	Y	F	Polymorphism	-
P50281	MMP14_HUMAN	17	T	R	Disease	Winchester syndrome (WNCHRS) [MIM:277950]
P50281	MMP14_HUMAN	4	A	T	Polymorphism	-
P50281	MMP14_HUMAN	6	R	K	Polymorphism	-
P50281	MMP14_HUMAN	273	D	N	Polymorphism	-
P50281	MMP14_HUMAN	233	I	V	Polymorphism	-
P50281	MMP14_HUMAN	8	P	S	Polymorphism	-
P50281	MMP14_HUMAN	431	R	H	Polymorphism	-
P50281	MMP14_HUMAN	302	R	W	Polymorphism	-
P50281	MMP14_HUMAN	355	M	I	Polymorphism	-
P50336	PPOX_HUMAN	57	G	R	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	401	L	F	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	397	A	D	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	15	L	F	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	178	L	V	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	444	L	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	40	G	E	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	335	V	G	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	217	R	C	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	38	R	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	448	G	R	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	11	G	D	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	168	R	H	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	172	A	V	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	154	L	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	138	R	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	358	G	R	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	143	D	V	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	205	A	V	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	224	W	G	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	73	L	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	34	E	V	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	158	V	M	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	420	P	R	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	422	Y	C	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	433	A	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	169	G	E	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	224	W	R	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	256	P	R	Unclassified	-
P50336	PPOX_HUMAN	330	G	R	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	158	V	L	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	349	D	A	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	232	G	S	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	139	G	D	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	152	R	C	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	20	H	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	304	R	H	Polymorphism	-
P50336	PPOX_HUMAN	283	I	N	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	168	R	C	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	348	Y	C	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	232	G	R	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	12	I	T	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	290	V	M	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	84	V	G	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	453	G	V	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	85	L	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	350	S	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	295	L	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	453	G	R	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	236	L	S	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	76	S	F	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	40	G	A	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	450	S	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	11	G	S	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	106	H	P	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	332	G	A	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	282	V	D	Disease	Variegate porphyria (VP) [MIM:176200]
P50336	PPOX_HUMAN	59	R	W	Disease	Variegate porphyria (VP) [MIM:176200]
P50391	NPY4R_HUMAN	240	R	C	Polymorphism	-
P50391	NPY4R_HUMAN	99	A	S	Polymorphism	-
P50402	EMD_HUMAN	54	S	F	Disease	Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
P50402	EMD_HUMAN	183	P	T	Disease	Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
P50402	EMD_HUMAN	183	P	H	Disease	Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
P50402	EMD_HUMAN	133	Q	H	Disease	Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
P50402	EMD_HUMAN	149	D	H	Polymorphism	-
P50416	CPT1A_HUMAN	414	A	V	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	465	G	W	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	498	Y	C	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	360	E	G	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	314	T	I	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	479	P	L	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	275	A	T	Polymorphism	-
P50416	CPT1A_HUMAN	316	R	G	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	123	R	C	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	710	G	E	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	357	R	W	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	709	G	E	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	454	D	G	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	304	C	W	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	484	L	P	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416	CPT1A_HUMAN	343	F	V	Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50440	GATM_HUMAN	234	D	G	Polymorphism	-
P50440	GATM_HUMAN	346	P	L	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	102	K	N	Unclassified	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	282	R	H	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	23	R	Q	Unclassified	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	93	I	V	Unclassified	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	185	A	P	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	189	R	C	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	181	E	K	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	413	R	Q	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	105	P	L	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	208	A	T	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	415	R	Q	Unclassified	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	413	R	W	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	203	Y	S	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	110	Q	H	Polymorphism	-
P50440	GATM_HUMAN	329	L	V	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
P50440	GATM_HUMAN	231	S	C	Polymorphism	-
P50443	S26A2_HUMAN	279	R	W	Disease	Atelosteogenesis 2 (AO2) [MIM:256050]
P50443	S26A2_HUMAN	279	R	W	Disease	Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]
P50443	S26A2_HUMAN	255	G	E	Disease	Atelosteogenesis 2 (AO2) [MIM:256050]
P50443	S26A2_HUMAN	574	I	T	Polymorphism	-
P50443	S26A2_HUMAN	256	F	S	Disease	Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]
P50443	S26A2_HUMAN	715	A	V	Disease	Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]
P50443	S26A2_HUMAN	689	T	S	Polymorphism	-
P50443	S26A2_HUMAN	715	A	V	Disease	Atelosteogenesis 2 (AO2) [MIM:256050]
P50443	S26A2_HUMAN	425	N	D	Disease	Achondrogenesis 1B (ACG1B) [MIM:600972]
P50443	S26A2_HUMAN	678	G	V	Disease	Achondrogenesis 1B (ACG1B) [MIM:600972]
P50443	S26A2_HUMAN	454	Q	P	Polymorphism	-
P50443	S26A2_HUMAN	653	C	S	Disease	Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]
P50452	SPB8_HUMAN	68	R	Q	Polymorphism	-
P50452	SPB8_HUMAN	158	K	N	Polymorphism	-
P50452	SPB8_HUMAN	359	H	R	Polymorphism	-
P50452	SPB8_HUMAN	304	T	A	Polymorphism	-
P50454	SERPH_HUMAN	41	A	P	Polymorphism	-
P50454	SERPH_HUMAN	78	L	P	Disease	Osteogenesis imperfecta 10 (OI10) [MIM:613848]
P50461	CSRP3_HUMAN	58	C	G	Disease	Cardiomyopathy, familial hypertrophic 12 (CMH12) [MIM:612124]
P50461	CSRP3_HUMAN	72	G	R	Unclassified	Cardiomyopathy, dilated 1M (CMD1M) [MIM:607482]
P50461	CSRP3_HUMAN	4	W	R	Unclassified	Cardiomyopathy, dilated 1M (CMD1M) [MIM:607482]
P50461	CSRP3_HUMAN	44	L	P	Disease	Cardiomyopathy, familial hypertrophic 12 (CMH12) [MIM:612124]
P50479	PDLI4_HUMAN	118	R	G	Polymorphism	-
P50479	PDLI4_HUMAN	259	G	C	Polymorphism	-
P50479	PDLI4_HUMAN	142	R	C	Polymorphism	-
P50479	PDLI4_HUMAN	184	V	I	Polymorphism	-
P50502	F10A1_HUMAN	297	M	I	Polymorphism	-
P50539	MXI1_HUMAN	152	E	A	Disease	Prostate cancer (PC) [MIM:176807]
P50542	PEX5_HUMAN	526	N	K	Disease	Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370]
P50542	PEX5_HUMAN	600	S	W	Disease	Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370]
P50548	ERF_HUMAN	205	R	H	Polymorphism	-
P50548	ERF_HUMAN	65	R	Q	Disease	Craniosynostosis 4 (CRS4) [MIM:600775]
P50548	ERF_HUMAN	86	R	C	Disease	Craniosynostosis 4 (CRS4) [MIM:600775]
P50548	ERF_HUMAN	89	Y	C	Disease	Chitayat syndrome (CHYTS) [MIM:617180]
P50549	ETV1_HUMAN	100	S	G	Polymorphism	-
P50552	VASP_HUMAN	104	A	T	Polymorphism	-
P50552	VASP_HUMAN	140	Q	H	Polymorphism	-
P50553	ASCL1_HUMAN	158	E	G	Polymorphism	-
P50570	DYN2_HUMAN	263	P	L	Polymorphism	-
P50570	DYN2_HUMAN	368	E	K	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	618	A	T	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	369	R	Q	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	465	R	W	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	522	R	C	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	369	R	W	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	537	G	C	Disease	Charcot-Marie-Tooth disease 2M (CMT2M) [MIM:606482]
P50570	DYN2_HUMAN	619	S	L	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	621	L	P	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	358	G	R	Disease	Charcot-Marie-Tooth disease 2M (CMT2M) [MIM:606482]
P50570	DYN2_HUMAN	368	E	Q	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	627	P	R	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	522	R	H	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	560	E	K	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	523	R	G	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	627	P	H	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	618	A	D	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	570	L	H	Disease	Charcot-Marie-Tooth disease 2M (CMT2M) [MIM:606482]
P50570	DYN2_HUMAN	650	E	K	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570	DYN2_HUMAN	379	F	V	Disease	Lethal congenital contracture syndrome 5 (LCCS5) [MIM:615368]
P50570	DYN2_HUMAN	562	K	E	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB) [MIM:606482]
P50570	DYN2_HUMAN	619	S	W	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50591	TNF10_HUMAN	33	V	I	Polymorphism	-
P50591	TNF10_HUMAN	47	D	E	Polymorphism	-
P50613	CDK7_HUMAN	163	G	A	Polymorphism	-
P50613	CDK7_HUMAN	285	T	M	Polymorphism	-
P50616	TOB1_HUMAN	319	K	R	Polymorphism	-
P50747	BPL1_HUMAN	237	L	P	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	571	D	N	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	42	E	D	Unclassified	A breast cancer sample
P50747	BPL1_HUMAN	183	R	P	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	241	G	W	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	715	D	G	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	42	E	D	Unclassified	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	360	R	S	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	634	D	Y	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	462	T	I	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	511	N	K	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	582	G	R	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	363	V	D	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	456	Y	C	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	581	G	S	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	508	R	W	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	216	L	R	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	333	V	E	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	547	V	G	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	550	V	M	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	518	G	E	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	470	L	S	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	634	D	N	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	505	G	R	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50747	BPL1_HUMAN	615	D	Y	Disease	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
P50748	KNTC1_HUMAN	1506	T	M	Polymorphism	-
P50748	KNTC1_HUMAN	1830	P	L	Polymorphism	-
P50748	KNTC1_HUMAN	2021	V	G	Polymorphism	-
P50748	KNTC1_HUMAN	245	K	N	Polymorphism	-
P50748	KNTC1_HUMAN	738	E	D	Polymorphism	-
P50749	RASF2_HUMAN	144	R	H	Unclassified	A colorectal cancer sample
P50750	CDK9_HUMAN	59	F	L	Polymorphism	-
P50750	CDK9_HUMAN	231	G	A	Polymorphism	-
P50851	LRBA_HUMAN	2657	I	S	Disease	Immunodeficiency, common variable, 8, with autoimmunity (CVID8) [MIM:614700]
P50851	LRBA_HUMAN	1997	R	C	Polymorphism	-
P50851	LRBA_HUMAN	2809	S	L	Polymorphism	-
P50851	LRBA_HUMAN	2713	L	F	Polymorphism	-
P50851	LRBA_HUMAN	2038	Q	H	Unclassified	A breast cancer sample
P50851	LRBA_HUMAN	1230	G	D	Polymorphism	-
P50851	LRBA_HUMAN	2274	G	R	Unclassified	A breast cancer sample
P50851	LRBA_HUMAN	2704	A	T	Polymorphism	-
P50851	LRBA_HUMAN	1090	A	G	Polymorphism	-
P50851	LRBA_HUMAN	2701	T	K	Unclassified	A breast cancer sample
P50851	LRBA_HUMAN	1677	N	S	Polymorphism	-
P50876	R144A_HUMAN	4	T	A	Polymorphism	-
P50895	BCAM_HUMAN	77	R	H	Polymorphism	-
P50895	BCAM_HUMAN	196	V	I	Polymorphism	-
P50895	BCAM_HUMAN	451	K	Q	Polymorphism	-
P50895	BCAM_HUMAN	581	Q	L	Polymorphism	-
P50895	BCAM_HUMAN	282	R	H	Polymorphism	-
P50895	BCAM_HUMAN	381	V	I	Polymorphism	-
P50895	BCAM_HUMAN	539	T	A	Polymorphism	-
P50895	BCAM_HUMAN	204	M	K	Polymorphism	-
P50897	PPT1_HUMAN	42	G	E	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	222	L	P	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	38	W	C	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	45	C	Y	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	79	D	G	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	152	C	Y	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	122	R	W	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	181	V	L	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	39	H	Q	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	109	Y	D	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	108	G	R	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	75	T	P	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	250	G	V	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	228	V	G	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	138	S	L	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	296	W	R	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	305	L	P	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	177	Q	E	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	134	I	T	Polymorphism	-
P50897	PPT1_HUMAN	189	P	R	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	187	H	R	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	219	L	Q	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	181	V	M	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50897	PPT1_HUMAN	247	Y	H	Disease	Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]
P50914	RL14_HUMAN	138	A	S	Polymorphism	-
P50990	TCPQ_HUMAN	409	V	I	Polymorphism	-
P50990	TCPQ_HUMAN	4	H	Q	Polymorphism	-
P50991	TCPD_HUMAN	112	I	V	Polymorphism	-
P50993	AT1A2_HUMAN	731	M	T	Disease	Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
P50993	AT1A2_HUMAN	764	L	P	Disease	Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
P50993	AT1A2_HUMAN	887	W	R	Disease	Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
P50993	AT1A2_HUMAN	366	G	A	Disease	-
P50993	AT1A2_HUMAN	715	G	R	Disease	Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
P50993	AT1A2_HUMAN	593	R	W	Unclassified	-
P50993	AT1A2_HUMAN	689	R	Q	Disease	Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
P50993	AT1A2_HUMAN	874	G	S	Disease	Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
P50993	AT1A2_HUMAN	1007	R	W	Disease	Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
P50993	AT1A2_HUMAN	378	T	N	Disease	Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]
P50995	ANX11_HUMAN	457	I	V	Polymorphism	-
P50995	ANX11_HUMAN	346	R	C	Unclassified	Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839]
P50995	ANX11_HUMAN	175	G	R	Unclassified	Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839]
P50995	ANX11_HUMAN	235	R	Q	Unclassified	Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839]
P50995	ANX11_HUMAN	230	R	C	Polymorphism	-
P50995	ANX11_HUMAN	189	G	E	Unclassified	Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839]
P50995	ANX11_HUMAN	38	G	R	Unclassified	Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839]
P50995	ANX11_HUMAN	191	R	Q	Polymorphism	-
P50995	ANX11_HUMAN	40	D	G	Disease	Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839]
P51114	FXR1_HUMAN	614	A	V	Polymorphism	-
P51114	FXR1_HUMAN	429	D	N	Polymorphism	-
P51114	FXR1_HUMAN	233	A	T	Unclassified	A breast cancer sample
P51116	FXR2_HUMAN	591	R	P	Polymorphism	-
P51116	FXR2_HUMAN	252	Q	H	Polymorphism	-
P51124	GRAM_HUMAN	221	R	G	Polymorphism	-
P51148	RAB5C_HUMAN	40	R	H	Unclassified	A colorectal cancer sample
P51149	RAB7A_HUMAN	32	K	E	Polymorphism	-
P51149	RAB7A_HUMAN	129	L	F	Disease	Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882]
P51149	RAB7A_HUMAN	162	V	M	Disease	Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882]
P51149	RAB7A_HUMAN	161	N	T	Disease	Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882]
P51149	RAB7A_HUMAN	157	K	N	Disease	Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882]
P51159	RB27A_HUMAN	152	A	P	Disease	Griscelli syndrome 2 (GS2) [MIM:607624]
P51159	RB27A_HUMAN	84	L	F	Polymorphism	-
P51159	RB27A_HUMAN	73	W	G	Disease	Griscelli syndrome 2 (GS2) [MIM:607624]
P51159	RB27A_HUMAN	62	T	S	Polymorphism	-
P51159	RB27A_HUMAN	130	L	P	Disease	Griscelli syndrome 2 (GS2) [MIM:607624]
P51159	RB27A_HUMAN	85	T	P	Polymorphism	-
P51160	PDE6C_HUMAN	822	K	N	Polymorphism	-
P51160	PDE6C_HUMAN	270	S	T	Polymorphism	-
P51160	PDE6C_HUMAN	826	I	S	Unclassified	-
P51160	PDE6C_HUMAN	699	E	A	Polymorphism	-
P51160	PDE6C_HUMAN	29	R	W	Disease	Achromatopsia 5 (ACHM5) [MIM:613093]
P51160	PDE6C_HUMAN	157	D	E	Polymorphism	-
P51160	PDE6C_HUMAN	391	P	L	Disease	Achromatopsia 5 (ACHM5) [MIM:613093]
P51160	PDE6C_HUMAN	323	Y	N	Disease	Achromatopsia 5 (ACHM5) [MIM:613093]
P51160	PDE6C_HUMAN	104	R	W	Disease	Achromatopsia 5 (ACHM5) [MIM:613093]
P51160	PDE6C_HUMAN	29	R	W	Disease	Cone dystrophy 4 (COD4) [MIM:613093]
P51160	PDE6C_HUMAN	834	E	G	Polymorphism	-
P51160	PDE6C_HUMAN	455	M	V	Disease	Achromatopsia 5 (ACHM5) [MIM:613093]
P51160	PDE6C_HUMAN	790	E	K	Disease	Achromatopsia 5 (ACHM5) [MIM:613093]
P51160	PDE6C_HUMAN	602	H	L	Disease	Achromatopsia 5 (ACHM5) [MIM:613093]
P51161	FABP6_HUMAN	55	S	Y	Polymorphism	-
P51161	FABP6_HUMAN	79	T	M	Polymorphism	-
P51161	FABP6_HUMAN	33	R	H	Polymorphism	-
P51168	SCNNB_HUMAN	597	R	H	Polymorphism	-
P51168	SCNNB_HUMAN	594	T	M	Polymorphism	-
P51168	SCNNB_HUMAN	434	V	M	Polymorphism	-
P51168	SCNNB_HUMAN	589	G	S	Polymorphism	-
P51168	SCNNB_HUMAN	311	A	V	Unclassified	A colorectal cancer sample
P51168	SCNNB_HUMAN	288	N	S	Disease	Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
P51168	SCNNB_HUMAN	616	P	S	Disease	Liddle syndrome 1 (LIDLS1) [MIM:177200]
P51168	SCNNB_HUMAN	294	G	S	Disease	Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
P51168	SCNNB_HUMAN	82	S	C	Disease	Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
P51168	SCNNB_HUMAN	539	E	K	Disease	Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
P51168	SCNNB_HUMAN	442	G	V	Polymorphism	-
P51168	SCNNB_HUMAN	37	G	S	Disease	Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]
P51168	SCNNB_HUMAN	624	R	C	Polymorphism	-
P51168	SCNNB_HUMAN	620	Y	H	Disease	Liddle syndrome 1 (LIDLS1) [MIM:177200]
P51168	SCNNB_HUMAN	267	P	L	Disease	Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
P51168	SCNNB_HUMAN	336	A	P	Polymorphism	-
P51168	SCNNB_HUMAN	348	V	M	Disease	Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
P51168	SCNNB_HUMAN	632	E	G	Polymorphism	-
P51168	SCNNB_HUMAN	618	P	R	Disease	Liddle syndrome 1 (LIDLS1) [MIM:177200]
P51168	SCNNB_HUMAN	616	P	L	Disease	Liddle syndrome 1 (LIDLS1) [MIM:177200]
P51168	SCNNB_HUMAN	387	L	V	Unclassified	A breast cancer sample
P51168	SCNNB_HUMAN	617	P	S	Disease	Liddle syndrome 1 (LIDLS1) [MIM:177200]
P51168	SCNNB_HUMAN	563	R	Q	Polymorphism	-
P51168	SCNNB_HUMAN	314	A	V	Unclassified	A breast cancer sample
P51168	SCNNB_HUMAN	369	P	T	Disease	Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
P51170	SCNNG_HUMAN	49	G	C	Polymorphism	-
P51170	SCNNG_HUMAN	183	G	S	Polymorphism	-
P51170	SCNNG_HUMAN	178	R	W	Polymorphism	-
P51170	SCNNG_HUMAN	502	A	P	Polymorphism	-
P51170	SCNNG_HUMAN	197	E	K	Polymorphism	-
P51170	SCNNG_HUMAN	614	A	S	Polymorphism	-
P51170	SCNNG_HUMAN	58	G	R	Unclassified	A colorectal cancer sample
P51172	SCNND_HUMAN	544	E	Q	Polymorphism	-
P51172	SCNND_HUMAN	696	C	Y	Polymorphism	-
P51172	SCNND_HUMAN	636	A	T	Polymorphism	-
P51172	SCNND_HUMAN	344	R	P	Polymorphism	-
P51172	SCNND_HUMAN	726	G	S	Polymorphism	-
P51172	SCNND_HUMAN	770	G	R	Polymorphism	-
P51178	PLCD1_HUMAN	257	R	H	Polymorphism	-
P51178	PLCD1_HUMAN	209	T	R	Disease	Nail disorder, non-syndromic congenital, 3 (NDNC3) [MIM:151600]
P51178	PLCD1_HUMAN	574	I	T	Disease	Nail disorder, non-syndromic congenital, 3 (NDNC3) [MIM:151600]
P51398	RT29_HUMAN	240	V	F	Polymorphism	-
P51449	RORG_HUMAN	38	S	L	Disease	Immunodeficiency 42 (IMD42) [MIM:616622]
P51451	BLK_HUMAN	71	A	T	Polymorphism	-
P51451	BLK_HUMAN	48	T	I	Polymorphism	-
P51460	INSL3_HUMAN	60	T	A	Polymorphism	-
P51460	INSL3_HUMAN	102	R	C	Disease	Cryptorchidism (CRYPTO) [MIM:219050]
P51460	INSL3_HUMAN	110	N	K	Disease	Cryptorchidism (CRYPTO) [MIM:219050]
P51460	INSL3_HUMAN	43	V	L	Polymorphism	-
P51460	INSL3_HUMAN	102	R	H	Polymorphism	-
P51460	INSL3_HUMAN	49	P	S	Polymorphism	-
P51460	INSL3_HUMAN	24	A	G	Polymorphism	-
P51460	INSL3_HUMAN	93	P	L	Disease	Cryptorchidism (CRYPTO) [MIM:219050]
P51504	ZNF80_HUMAN	253	D	A	Polymorphism	-
P51504	ZNF80_HUMAN	201	R	H	Polymorphism	-
P51508	ZNF81_HUMAN	213	A	E	Polymorphism	-
P51508	ZNF81_HUMAN	499	I	V	Polymorphism	-
P51508	ZNF81_HUMAN	157	N	S	Polymorphism	-
P51508	ZNF81_HUMAN	179	S	N	Unclassified	-
P51508	ZNF81_HUMAN	117	G	V	Polymorphism	-
P51508	ZNF81_HUMAN	185	S	L	Polymorphism	-
P51508	ZNF81_HUMAN	3	A	V	Polymorphism	-
P51511	MMP15_HUMAN	350	P	L	Polymorphism	-
P51511	MMP15_HUMAN	609	G	R	Polymorphism	-
P51511	MMP15_HUMAN	200	L	P	Polymorphism	-
P51511	MMP15_HUMAN	622	R	W	Polymorphism	-
P51511	MMP15_HUMAN	596	D	G	Polymorphism	-
P51522	ZNF83_HUMAN	392	H	R	Polymorphism	-
P51522	ZNF83_HUMAN	70	T	I	Polymorphism	-
P51522	ZNF83_HUMAN	119	T	M	Polymorphism	-
P51522	ZNF83_HUMAN	96	S	N	Polymorphism	-
P51530	DNA2_HUMAN	637	V	I	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156]
P51530	DNA2_HUMAN	227	K	E	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156]
P51530	DNA2_HUMAN	198	R	H	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156]
P51531	SMCA2_HUMAN	881	G	R	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1213	R	W	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1201	A	V	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	854	H	R	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1205	D	G	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	755	K	R	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	855	R	Q	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1159	R	Q	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	881	G	V	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1241	Q	E	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	854	H	N	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	756	T	I	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1416	G	A	Polymorphism	-
P51531	SMCA2_HUMAN	1546	D	E	Polymorphism	-
P51531	SMCA2_HUMAN	1159	R	G	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	883	P	L	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1135	L	P	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1188	A	P	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	851	D	H	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1105	R	C	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	946	L	S	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	752	G	A	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1159	R	L	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	855	R	G	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	852	E	D	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1105	R	P	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	880	T	I	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1158	D	V	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	939	H	Y	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1162	R	H	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1202	G	C	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	946	L	F	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	1146	S	R	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51531	SMCA2_HUMAN	852	E	K	Disease	Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
P51532	SMCA4_HUMAN	859	T	M	Disease	Coffin-Siris syndrome 4 (CSS4) [MIM:614609]
P51532	SMCA4_HUMAN	885	R	C	Disease	Coffin-Siris syndrome 4 (CSS4) [MIM:614609]
P51532	SMCA4_HUMAN	921	L	F	Disease	Coffin-Siris syndrome 4 (CSS4) [MIM:614609]
P51532	SMCA4_HUMAN	1036	M	I	Polymorphism	-
P51532	SMCA4_HUMAN	1157	R	G	Disease	Coffin-Siris syndrome 4 (CSS4) [MIM:614609]
P51532	SMCA4_HUMAN	561	V	E	Polymorphism	-
P51532	SMCA4_HUMAN	1011	M	T	Disease	Coffin-Siris syndrome 4 (CSS4) [MIM:614609]
P51570	GALK1_HUMAN	32	V	M	Disease	Galactosemia II (GALCT2) [MIM:230200]
P51570	GALK1_HUMAN	44	H	Y	Disease	Galactosemia II (GALCT2) [MIM:230200]
P51570	GALK1_HUMAN	184	I	M	Polymorphism	-
P51570	GALK1_HUMAN	346	G	S	Disease	Galactosemia II (GALCT2) [MIM:230200]
P51570	GALK1_HUMAN	68	R	C	Disease	Galactosemia II (GALCT2) [MIM:230200]
P51570	GALK1_HUMAN	239	R	Q	Disease	Galactosemia II (GALCT2) [MIM:230200]
P51570	GALK1_HUMAN	288	T	M	Disease	Galactosemia II (GALCT2) [MIM:230200]
P51570	GALK1_HUMAN	384	A	P	Disease	Galactosemia II (GALCT2) [MIM:230200]
P51570	GALK1_HUMAN	28	P	T	Disease	Galactosemia II (GALCT2) [MIM:230200]
P51570	GALK1_HUMAN	338	V	A	Polymorphism	-
P51570	GALK1_HUMAN	36	G	R	Disease	Galactosemia II (GALCT2) [MIM:230200]
P51570	GALK1_HUMAN	274	G	D	Polymorphism	-
P51570	GALK1_HUMAN	349	G	S	Disease	Galactosemia II (GALCT2) [MIM:230200]
P51570	GALK1_HUMAN	198	A	V	Disease	Galactosemia II (GALCT2) [MIM:230200]
P51571	SSRD_HUMAN	144	G	R	Polymorphism	-
P51575	P2RX1_HUMAN	396	M	V	Polymorphism	-
P51580	TPMT_HUMAN	240	Y	C	Polymorphism	-
P51580	TPMT_HUMAN	49	L	S	Polymorphism	-
P51580	TPMT_HUMAN	180	Y	F	Polymorphism	-
P51580	TPMT_HUMAN	227	H	Q	Polymorphism	-
P51580	TPMT_HUMAN	154	A	T	Polymorphism	-
P51580	TPMT_HUMAN	179	Q	H	Polymorphism	-
P51580	TPMT_HUMAN	215	R	H	Polymorphism	-
P51580	TPMT_HUMAN	80	A	P	Polymorphism	-
P51582	P2RY4_HUMAN	234	S	A	Polymorphism	-
P51582	P2RY4_HUMAN	168	V	M	Polymorphism	-
P51582	P2RY4_HUMAN	191	P	L	Polymorphism	-
P51582	P2RY4_HUMAN	178	N	T	Polymorphism	-
P51587	BRCA2_HUMAN	75	A	P	Unclassified	Ovarian cancer
P51587	BRCA2_HUMAN	2729	K	N	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	75	A	P	Unclassified	Renal cancer
P51587	BRCA2_HUMAN	3013	T	I	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	108	N	H	Polymorphism	-
P51587	BRCA2_HUMAN	2723	D	G	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2353	G	R	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	3196	K	E	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	327	K	E	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2128	K	N	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2728	V	I	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2950	K	N	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	315	C	S	Unclassified	One patient with esophageal carcinoma
P51587	BRCA2_HUMAN	3374	T	I	Polymorphism	-
P51587	BRCA2_HUMAN	505	I	T	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2275	E	G	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	582	T	P	Polymorphism	-
P51587	BRCA2_HUMAN	2488	R	K	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	53	K	R	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	64	T	I	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2723	D	H	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	31	W	C	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2293	F	L	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2706	N	S	Polymorphism	-
P51587	BRCA2_HUMAN	3052	R	W	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2415	H	N	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2510	L	P	Disease	Fanconi anemia complementation group D1 (FANCD1) [MIM:605724]
P51587	BRCA2_HUMAN	598	T	A	Polymorphism	-
P51587	BRCA2_HUMAN	1513	D	N	Polymorphism	-
P51587	BRCA2_HUMAN	2793	G	R	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	25	G	R	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	225	T	A	Polymorphism	-
P51587	BRCA2_HUMAN	2663	E	V	Polymorphism	-
P51587	BRCA2_HUMAN	60	N	S	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2626	W	C	Disease	Fanconi anemia complementation group D1 (FANCD1) [MIM:605724]
P51587	BRCA2_HUMAN	3124	N	I	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2072	S	C	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	118	R	H	Unclassified	One patient with esophageal carcinoma
P51587	BRCA2_HUMAN	31	W	R	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2787	R	H	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2748	G	D	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2447	N	D	Polymorphism	-
P51587	BRCA2_HUMAN	3095	D	E	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	707	D	Y	Polymorphism	-
P51587	BRCA2_HUMAN	599	S	F	Polymorphism	-
P51587	BRCA2_HUMAN	1529	G	R	Unclassified	Bladder cancer
P51587	BRCA2_HUMAN	32	F	L	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	929	L	S	Polymorphism	-
P51587	BRCA2_HUMAN	3076	G	E	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	42	Y	C	Unclassified	Ovarian cancer
P51587	BRCA2_HUMAN	606	P	L	Polymorphism	-
P51587	BRCA2_HUMAN	3063	P	S	Unclassified	A patient with ovarian cancer
P51587	BRCA2_HUMAN	3276	R	S	Polymorphism	-
P51587	BRCA2_HUMAN	2792	L	P	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	3118	M	T	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1643	V	A	Polymorphism	-
P51587	BRCA2_HUMAN	326	S	R	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	886	N	I	Polymorphism	-
P51587	BRCA2_HUMAN	2969	V	M	Polymorphism	-
P51587	BRCA2_HUMAN	2094	Y	C	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	462	E	G	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	81	F	L	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1561	H	N	Polymorphism	-
P51587	BRCA2_HUMAN	1036	E	K	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2722	T	R	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	322	K	Q	Polymorphism	-
P51587	BRCA2_HUMAN	2421	Q	H	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	3357	T	R	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2842	R	C	Unclassified	One patient with esophageal carcinoma
P51587	BRCA2_HUMAN	192	M	T	Unclassified	One patient with pancreatic cancer
P51587	BRCA2_HUMAN	935	D	N	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	513	K	R	Polymorphism	-
P51587	BRCA2_HUMAN	613	L	R	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	448	R	H	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	405	G	R	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	3412	I	V	Polymorphism	-
P51587	BRCA2_HUMAN	3098	Y	H	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	3103	I	M	Unclassified	Melanoma
P51587	BRCA2_HUMAN	3101	L	R	Polymorphism	-
P51587	BRCA2_HUMAN	1522	L	F	Polymorphism	-
P51587	BRCA2_HUMAN	1542	V	M	Polymorphism	-
P51587	BRCA2_HUMAN	982	I	L	Polymorphism	-
P51587	BRCA2_HUMAN	1290	C	Y	Polymorphism	-
P51587	BRCA2_HUMAN	372	N	H	Polymorphism	-
P51587	BRCA2_HUMAN	784	M	V	Polymorphism	-
P51587	BRCA2_HUMAN	1106	S	R	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2162	K	R	Polymorphism	-
P51587	BRCA2_HUMAN	431	T	I	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2238	D	E	Polymorphism	-
P51587	BRCA2_HUMAN	729	I	M	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2686	L	P	Polymorphism	-
P51587	BRCA2_HUMAN	1887	T	M	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2274	G	V	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1172	S	L	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2034	R	C	Polymorphism	-
P51587	BRCA2_HUMAN	2118	V	L	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1179	S	N	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	289	N	H	Polymorphism	-
P51587	BRCA2_HUMAN	2440	H	R	Polymorphism	-
P51587	BRCA2_HUMAN	2835	S	P	Polymorphism	-
P51587	BRCA2_HUMAN	1979	S	R	Polymorphism	-
P51587	BRCA2_HUMAN	2659	R	K	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2336	R	Q	Polymorphism	-
P51587	BRCA2_HUMAN	1593	E	D	Polymorphism	-
P51587	BRCA2_HUMAN	2627	I	F	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2502	R	H	Unclassified	Ovarian cancer
P51587	BRCA2_HUMAN	2456	Q	E	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1420	D	Y	Polymorphism	-
P51587	BRCA2_HUMAN	2787	R	H	Unclassified	Ovarian cancer
P51587	BRCA2_HUMAN	1880	N	K	Polymorphism	-
P51587	BRCA2_HUMAN	1902	D	N	Polymorphism	-
P51587	BRCA2_HUMAN	3244	V	I	Polymorphism	-
P51587	BRCA2_HUMAN	2856	E	A	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	976	S	F	Polymorphism	-
P51587	BRCA2_HUMAN	42	Y	C	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	554	C	W	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	3098	Y	H	Unclassified	Ovarian cancer
P51587	BRCA2_HUMAN	2116	H	R	Polymorphism	-
P51587	BRCA2_HUMAN	1580	C	Y	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2466	A	V	Polymorphism	-
P51587	BRCA2_HUMAN	2490	I	T	Polymorphism	-
P51587	BRCA2_HUMAN	3300	P	S	Unclassified	One patient with esophageal carcinoma
P51587	BRCA2_HUMAN	1915	T	M	Polymorphism	-
P51587	BRCA2_HUMAN	2944	I	F	Polymorphism	-
P51587	BRCA2_HUMAN	222	P	S	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	211	V	A	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	987	N	I	Polymorphism	-
P51587	BRCA2_HUMAN	3257	K	R	Polymorphism	-
P51587	BRCA2_HUMAN	2653	L	P	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1988	V	I	Unclassified	One patient with esophageal carcinoma
P51587	BRCA2_HUMAN	1901	E	K	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2044	G	V	Polymorphism	-
P51587	BRCA2_HUMAN	2096	P	L	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1929	I	V	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2951	A	T	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2480	L	V	Polymorphism	-
P51587	BRCA2_HUMAN	201	P	R	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1771	G	D	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	728	D	A	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	355	V	L	Unclassified	Lung cancer
P51587	BRCA2_HUMAN	1679	T	I	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1730	N	Y	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2502	R	C	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2089	E	D	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1414	T	M	Polymorphism	-
P51587	BRCA2_HUMAN	2336	R	H	Disease	Fanconi anemia complementation group D1 (FANCD1) [MIM:605724]
P51587	BRCA2_HUMAN	2138	V	F	Polymorphism	-
P51587	BRCA2_HUMAN	2031	T	A	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1804	V	A	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	554	C	W	Unclassified	Pancreas cancer
P51587	BRCA2_HUMAN	991	N	D	Polymorphism	-
P51587	BRCA2_HUMAN	1690	K	N	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1524	F	V	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2074	H	N	Polymorphism	-
P51587	BRCA2_HUMAN	1147	N	S	Polymorphism	-
P51587	BRCA2_HUMAN	1445	K	T	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2515	T	I	Unclassified	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1279	N	S	Polymorphism	-
P51587	BRCA2_HUMAN	2108	R	C	Polymorphism	-
P51587	BRCA2_HUMAN	2222	Y	C	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	2135	N	H	Disease	Breast cancer (BC) [MIM:114480]
P51587	BRCA2_HUMAN	1805	N	S	Polymorphism	-
P51587	BRCA2_HUMAN	630	T	I	Unclassified	Ovarian cancer
P51589	CP2J2_HUMAN	342	D	N	Polymorphism	-
P51589	CP2J2_HUMAN	49	R	S	Polymorphism	-
P51589	CP2J2_HUMAN	113	V	M	Polymorphism	-
P51589	CP2J2_HUMAN	143	T	A	Polymorphism	-
P51589	CP2J2_HUMAN	404	N	Y	Polymorphism	-
P51589	CP2J2_HUMAN	124	N	S	Polymorphism	-
P51589	CP2J2_HUMAN	192	I	N	Polymorphism	-
P51589	CP2J2_HUMAN	158	R	C	Polymorphism	-
P51606	RENBP_HUMAN	169	Q	R	Polymorphism	-
P51606	RENBP_HUMAN	284	D	G	Polymorphism	-
P51608	MECP2_HUMAN	453	R	Q	Disease	Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
P51608	MECP2_HUMAN	344	R	W	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	101	P	L	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	394	E	K	Polymorphism	-
P51608	MECP2_HUMAN	322	P	L	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	133	R	H	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	201	A	V	Polymorphism	-
P51608	MECP2_HUMAN	155	F	S	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	306	R	C	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	302	P	R	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	305	K	R	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	155	F	I	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	322	P	A	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	156	D	G	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	402	P	L	Polymorphism	-
P51608	MECP2_HUMAN	101	P	T	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	101	P	S	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	158	T	A	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	133	R	C	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	480	P	S	Polymorphism	-
P51608	MECP2_HUMAN	232	G	A	Polymorphism	-
P51608	MECP2_HUMAN	134	S	C	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	97	D	E	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	100	L	R	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	225	P	R	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	137	E	G	Disease	Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
P51608	MECP2_HUMAN	10	E	Q	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	106	R	W	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	306	R	H	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	302	P	L	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	158	T	M	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	302	P	H	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	444	A	T	Polymorphism	-
P51608	MECP2_HUMAN	152	P	R	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	120	Y	D	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	412	V	I	Polymorphism	-
P51608	MECP2_HUMAN	203	T	M	Polymorphism	-
P51608	MECP2_HUMAN	225	P	L	Disease	Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
P51608	MECP2_HUMAN	322	P	S	Disease	Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
P51608	MECP2_HUMAN	128	Q	P	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	388	P	S	Unclassified	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	399	P	L	Unclassified	Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
P51608	MECP2_HUMAN	305	K	N	Disease	-
P51608	MECP2_HUMAN	124	L	F	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	439	A	T	Polymorphism	-
P51608	MECP2_HUMAN	100	L	V	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	161	G	V	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	86	S	C	Polymorphism	-
P51608	MECP2_HUMAN	397	E	K	Polymorphism	-
P51608	MECP2_HUMAN	284	K	E	Disease	Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
P51608	MECP2_HUMAN	101	P	H	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	197	T	M	Polymorphism	-
P51608	MECP2_HUMAN	428	G	S	Unclassified	Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2) [MIM:300673]
P51608	MECP2_HUMAN	291	S	A	Polymorphism	-
P51608	MECP2_HUMAN	101	P	R	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	181	A	V	Polymorphism	-
P51608	MECP2_HUMAN	97	D	Y	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	229	S	L	Polymorphism	-
P51608	MECP2_HUMAN	359	S	P	Polymorphism	-
P51608	MECP2_HUMAN	135	K	E	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	140	A	V	Disease	Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
P51608	MECP2_HUMAN	287	A	P	Polymorphism	-
P51608	MECP2_HUMAN	228	T	S	Polymorphism	-
P51608	MECP2_HUMAN	111	R	G	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	388	P	L	Polymorphism	-
P51608	MECP2_HUMAN	196	T	S	Polymorphism	-
P51608	MECP2_HUMAN	302	P	A	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	106	R	Q	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	167	R	W	Disease	Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
P51608	MECP2_HUMAN	376	P	S	Polymorphism	-
P51608	MECP2_HUMAN	210	K	I	Disease	Rett syndrome (RTT) [MIM:312750]
P51608	MECP2_HUMAN	251	P	L	Polymorphism	-
P51610	HCFC1_HUMAN	2004	S	I	Polymorphism	-
P51610	HCFC1_HUMAN	1164	S	P	Polymorphism	-
P51610	HCFC1_HUMAN	225	S	N	Disease	Mental retardation, X-linked 3 (MRX3) [MIM:309541]
P51617	IRAK1_HUMAN	196	F	S	Polymorphism	-
P51617	IRAK1_HUMAN	203	C	S	Polymorphism	-
P51617	IRAK1_HUMAN	194	R	H	Polymorphism	-
P51617	IRAK1_HUMAN	421	Q	H	Unclassified	A breast pleomorphic lobular carcinoma sample
P51617	IRAK1_HUMAN	619	G	S	Polymorphism	-
P51617	IRAK1_HUMAN	690	S	G	Unclassified	A lung adenocarcinoma sample
P51617	IRAK1_HUMAN	638	R	W	Polymorphism	-
P51617	IRAK1_HUMAN	398	T	M	Polymorphism	-
P51617	IRAK1_HUMAN	625	T	M	Polymorphism	-
P51617	IRAK1_HUMAN	532	S	L	Polymorphism	-
P51617	IRAK1_HUMAN	412	V	M	Unclassified	A glioblastoma multiforme sample
P51636	CAV2_HUMAN	130	Q	E	Polymorphism	-
P51648	AL3A2_HUMAN	328	M	I	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	266	K	N	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	184	T	R	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	214	C	Y	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	412	G	R	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	447	K	E	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	415	S	N	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	226	C	W	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	45	I	F	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	315	P	S	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	185	G	A	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	121	P	L	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	279	Y	N	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	64	V	D	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	365	S	L	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	245	D	N	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	184	T	M	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	228	R	C	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	237	C	Y	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	419	F	S	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	406	G	R	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	386	N	S	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	411	H	Y	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	114	P	L	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	106	L	R	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648	AL3A2_HUMAN	423	R	H	Disease	Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51649	SSDH_HUMAN	382	P	L	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	93	C	F	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	382	P	Q	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	182	P	L	Polymorphism	-
P51649	SSDH_HUMAN	180	H	Y	Polymorphism	-
P51649	SSDH_HUMAN	255	N	S	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	223	C	Y	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	233	T	M	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	335	N	K	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	487	V	E	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	237	A	S	Polymorphism	-
P51649	SSDH_HUMAN	372	N	S	Polymorphism	-
P51649	SSDH_HUMAN	409	G	D	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	533	G	R	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	406	V	I	Polymorphism	-
P51649	SSDH_HUMAN	176	G	R	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	268	G	E	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649	SSDH_HUMAN	36	G	R	Polymorphism	-
P51654	GPC3_HUMAN	296	W	R	Disease	Simpson-Golabi-Behmel syndrome 1 (SGBS1) [MIM:312870]
P51654	GPC3_HUMAN	429	V	M	Polymorphism	-
P51659	DHB4_HUMAN	728	M	V	Polymorphism	-
P51659	DHB4_HUMAN	457	N	Y	Disease	D-bifunctional protein deficiency (DBPD) [MIM:261515]
P51659	DHB4_HUMAN	427	A	V	Polymorphism	-
P51659	DHB4_HUMAN	106	R	P	Disease	D-bifunctional protein deficiency (DBPD) [MIM:261515]
P51659	DHB4_HUMAN	606	A	S	Polymorphism	-
P51659	DHB4_HUMAN	90	F	L	Polymorphism	-
P51659	DHB4_HUMAN	687	T	I	Polymorphism	-
P51659	DHB4_HUMAN	217	Y	C	Disease	Perrault syndrome 1 (PRLTS1) [MIM:233400]
P51659	DHB4_HUMAN	559	I	V	Polymorphism	-
P51659	DHB4_HUMAN	106	R	H	Polymorphism	-
P51659	DHB4_HUMAN	292	T	S	Polymorphism	-
P51659	DHB4_HUMAN	140	K	N	Polymorphism	-
P51659	DHB4_HUMAN	511	W	R	Polymorphism	-
P51659	DHB4_HUMAN	16	G	S	Disease	D-bifunctional protein deficiency (DBPD) [MIM:261515]
P51659	DHB4_HUMAN	491	A	T	Polymorphism	-
P51671	CCL11_HUMAN	86	K	T	Polymorphism	-
P51671	CCL11_HUMAN	7	L	P	Polymorphism	-
P51671	CCL11_HUMAN	51	R	S	Polymorphism	-
P51671	CCL11_HUMAN	23	A	T	Polymorphism	-
P51671	CCL11_HUMAN	79	K	R	Polymorphism	-
P51674	GPM6A_HUMAN	242	V	L	Polymorphism	-
P51677	CCR3_HUMAN	21	G	D	Polymorphism	-
P51677	CCR3_HUMAN	39	P	L	Polymorphism	-
P51677	CCR3_HUMAN	218	C	S	Polymorphism	-
P51679	CCR4_HUMAN	130	L	V	Polymorphism	-
P51679	CCR4_HUMAN	178	C	S	Polymorphism	-
P51681	CCR5_HUMAN	288	T	M	Polymorphism	-
P51681	CCR5_HUMAN	10	Y	D	Unclassified	-
P51681	CCR5_HUMAN	97	G	E	Unclassified	-
P51681	CCR5_HUMAN	31	R	H	Polymorphism	-
P51681	CCR5_HUMAN	246	L	P	Polymorphism	-
P51681	CCR5_HUMAN	301	G	V	Polymorphism	-
P51681	CCR5_HUMAN	339	Y	F	Polymorphism	-
P51681	CCR5_HUMAN	55	L	Q	Polymorphism	-
P51681	CCR5_HUMAN	303	K	E	Unclassified	-
P51681	CCR5_HUMAN	322	K	R	Unclassified	-
P51681	CCR5_HUMAN	345	E	G	Unclassified	-
P51681	CCR5_HUMAN	122	L	P	Unclassified	-
P51681	CCR5_HUMAN	62	K	R	Unclassified	-
P51681	CCR5_HUMAN	302	E	G	Unclassified	-
P51681	CCR5_HUMAN	215	S	L	Polymorphism	-
P51681	CCR5_HUMAN	335	A	V	Polymorphism	-
P51681	CCR5_HUMAN	176	Y	C	Unclassified	-
P51681	CCR5_HUMAN	333	E	G	Unclassified	-
P51681	CCR5_HUMAN	29	A	S	Polymorphism	-
P51681	CCR5_HUMAN	12	I	L	Polymorphism	-
P51681	CCR5_HUMAN	223	R	Q	Polymorphism	-
P51681	CCR5_HUMAN	239	T	S	Unclassified	-
P51681	CCR5_HUMAN	178	C	R	Polymorphism	-
P51681	CCR5_HUMAN	60	R	S	Polymorphism	-
P51681	CCR5_HUMAN	95	D	N	Polymorphism	-
P51681	CCR5_HUMAN	214	Y	C	Unclassified	-
P51681	CCR5_HUMAN	20	C	S	Polymorphism	-
P51681	CCR5_HUMAN	158	F	S	Unclassified	-
P51681	CCR5_HUMAN	306	N	S	Unclassified	-
P51681	CCR5_HUMAN	42	I	F	Polymorphism	-
P51681	CCR5_HUMAN	34	P	L	Unclassified	-
P51681	CCR5_HUMAN	73	A	V	Polymorphism	-
P51681	CCR5_HUMAN	185	S	N	Unclassified	-
P51681	CCR5_HUMAN	177	T	A	Unclassified	-
P51681	CCR5_HUMAN	106	G	R	Polymorphism	-
P51681	CCR5_HUMAN	68	Y	H	Polymorphism	-
P51681	CCR5_HUMAN	210	M	V	Unclassified	-
P51685	CCR8_HUMAN	27	A	G	Polymorphism	-
P51686	CCR9_HUMAN	284	M	V	Polymorphism	-
P51686	CCR9_HUMAN	92	I	V	Polymorphism	-
P51687	SUOX_HUMAN	265	A	D	Disease	Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
P51687	SUOX_HUMAN	258	I	L	Disease	Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
P51687	SUOX_HUMAN	362	G	S	Disease	Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
P51687	SUOX_HUMAN	268	R	Q	Disease	Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
P51687	SUOX_HUMAN	450	W	R	Disease	Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
P51687	SUOX_HUMAN	379	K	R	Disease	Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
P51687	SUOX_HUMAN	396	Q	R	Disease	Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
P51687	SUOX_HUMAN	427	S	Y	Disease	Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
P51687	SUOX_HUMAN	366	R	H	Disease	Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
P51687	SUOX_HUMAN	530	G	D	Disease	Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
P51687	SUOX_HUMAN	217	R	Q	Disease	Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
P51688	SPHM_HUMAN	193	F	L	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	74	R	H	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	44	A	T	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	66	S	W	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	234	A	G	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	182	R	C	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	179	D	N	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	128	P	L	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	321	T	A	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	298	S	P	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	226	V	A	Polymorphism	-
P51688	SPHM_HUMAN	477	D	N	Unclassified	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	85	Q	R	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	79	T	P	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	386	L	R	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	139	T	M	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	235	D	V	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	245	R	H	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	122	G	R	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	354	A	P	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	361	V	I	Polymorphism	-
P51688	SPHM_HUMAN	227	P	R	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	433	R	Q	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	486	V	F	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	40	Y	N	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	235	D	N	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	293	P	T	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	380	Q	R	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	32	D	G	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	74	R	C	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	131	V	M	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	372	M	I	Polymorphism	-
P51688	SPHM_HUMAN	206	R	P	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	389	N	K	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	163	L	P	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	394	M	I	Polymorphism	-
P51688	SPHM_HUMAN	433	R	W	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	447	E	K	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	377	R	C	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	300	E	V	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	88	M	T	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	150	R	Q	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	146	L	P	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	377	R	H	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	456	R	H	Polymorphism	-
P51688	SPHM_HUMAN	355	E	K	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	90	G	R	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	42	N	K	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	251	G	A	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	106	S	R	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	273	D	N	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	32	D	E	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	322	I	S	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	288	P	S	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	387	V	M	Polymorphism	-
P51688	SPHM_HUMAN	374	Y	H	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	364	S	R	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	293	P	S	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	150	R	W	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	84	H	Y	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	191	G	R	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	304	R	L	Polymorphism	-
P51688	SPHM_HUMAN	369	E	K	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51688	SPHM_HUMAN	307	Q	P	Disease	Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]
P51689	ARSD_HUMAN	224	S	C	Polymorphism	-
P51689	ARSD_HUMAN	500	V	I	Polymorphism	-
P51689	ARSD_HUMAN	564	M	T	Polymorphism	-
P51690	ARSE_HUMAN	481	T	M	Disease	Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
P51690	ARSE_HUMAN	492	C	Y	Disease	Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
P51690	ARSE_HUMAN	245	G	R	Disease	Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
P51690	ARSE_HUMAN	12	R	S	Disease	Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
P51690	ARSE_HUMAN	137	G	V	Disease	Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
P51690	ARSE_HUMAN	578	P	S	Disease	Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
P51690	ARSE_HUMAN	111	R	P	Disease	Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
P51690	ARSE_HUMAN	117	G	R	Disease	Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
P51690	ARSE_HUMAN	424	G	S	Polymorphism	-
P51690	ARSE_HUMAN	183	R	H	Polymorphism	-
P51690	ARSE_HUMAN	80	I	N	Disease	Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
P51692	STA5B_HUMAN	630	A	P	Disease	Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590]
P51692	STA5B_HUMAN	646	F	S	Disease	Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590]
P51692	STA5B_HUMAN	130	A	V	Polymorphism	-
P51787	KCNQ1_HUMAN	372	A	D	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	393	K	M	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	351	F	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	365	N	H	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	320	P	H	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	259	R	L	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	259	R	C	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	446	D	E	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	397	R	W	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	389	S	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	354	K	R	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	248	W	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	235	I	N	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	290	E	K	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	136	C	F	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	122	C	Y	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	115	E	G	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	306	G	V	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	398	K	R	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	626	G	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	133	V	I	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	345	G	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	190	R	W	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	379	W	G	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	7	P	S	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	417	V	M	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	278	Y	H	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	315	Y	C	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	360	R	T	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	385	E	K	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	518	R	G	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	316	G	V	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	250	L	H	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	307	V	L	Disease	Short QT syndrome 2 (SQT2) [MIM:609621]
P51787	KCNQ1_HUMAN	281	Y	C	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	322	T	M	Disease	Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]
P51787	KCNQ1_HUMAN	360	R	M	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	73	P	T	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	451	R	W	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	273	L	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	353	L	P	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	591	R	H	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	567	I	T	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	243	R	H	Disease	Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]
P51787	KCNQ1_HUMAN	261	E	D	Disease	Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]
P51787	KCNQ1_HUMAN	287	A	E	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	280	V	E	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	277	S	L	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	391	T	I	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	243	R	C	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	204	I	F	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	275	F	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	566	S	Y	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	186	G	R	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	533	R	W	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	460	G	S	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	557	K	E	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	174	R	H	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	242	D	N	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	192	R	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	243	R	P	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	583	R	C	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	594	R	Q	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	248	W	F	Disease	Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]
P51787	KCNQ1_HUMAN	587	T	M	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	231	R	H	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	320	P	S	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	184	Y	H	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	643	G	S	Polymorphism	-
P51787	KCNQ1_HUMAN	392	W	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	373	S	P	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	448	P	L	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	314	G	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	304	W	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	302	A	E	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	191	L	P	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	46	A	T	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	316	G	E	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	349	S	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	241	V	G	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	168	G	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	198	I	V	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	258	H	R	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	259	R	H	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	589	G	D	Disease	Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]
P51787	KCNQ1_HUMAN	254	V	L	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	250	L	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	305	W	R	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	322	T	A	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	567	I	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	393	K	N	Polymorphism	-
P51787	KCNQ1_HUMAN	589	G	D	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	555	R	S	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	341	A	G	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	202	D	H	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	215	V	M	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	189	G	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	178	A	P	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	366	R	W	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	302	A	T	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	174	R	C	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	566	S	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	590	A	T	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	2	A	V	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	546	S	L	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	318	K	N	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	66	S	F	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	209	S	F	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	195	R	W	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	204	I	M	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	366	R	P	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	199	S	A	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	231	R	C	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	302	A	V	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	311	T	I	Disease	Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]
P51787	KCNQ1_HUMAN	282	L	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	362	K	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	224	T	M	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	157	F	C	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	635	G	R	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	600	T	M	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	586	N	D	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	371	A	T	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	322	T	M	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	296	F	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	571	S	L	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	258	H	N	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	539	R	W	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	283	A	G	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	339	F	Y	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	343	P	L	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	448	P	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	190	R	L	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	272	G	D	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	339	F	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	315	Y	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	455	H	Y	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	144	T	A	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	518	R	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	314	G	C	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	316	G	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	311	T	I	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	380	R	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	566	S	F	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	343	P	R	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	140	S	G	Disease	Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554]
P51787	KCNQ1_HUMAN	619	L	M	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	568	G	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	162	V	M	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	525	A	T	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	313	I	M	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	320	P	A	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	591	R	C	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	555	R	H	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	539	R	Q	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	520	M	R	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	344	A	E	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	350	G	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	374	L	H	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	262	L	V	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	345	G	E	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	343	P	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	265	T	I	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	172	V	M	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	314	G	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	184	Y	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	137	L	F	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	522	Y	S	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	239	L	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	308	V	D	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	274	I	V	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	555	R	C	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	594	R	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	389	S	Y	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	611	D	N	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	268	I	S	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	293	R	C	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	596	E	K	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	261	E	K	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	317	D	N	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	174	R	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	366	R	Q	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	303	L	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	179	G	S	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	266	L	P	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	117	P	L	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	341	A	V	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	277	S	W	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	341	A	E	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	153	T	M	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	277	S	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	134	L	P	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	216	G	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	306	G	R	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	349	S	W	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	548	G	D	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	511	R	W	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	127	F	L	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	541	V	I	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	583	R	H	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	344	A	V	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	477	P	L	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	569	K	E	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	312	T	I	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	325	G	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	190	R	Q	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	305	W	S	Disease	Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]
P51787	KCNQ1_HUMAN	160	E	K	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	554	V	A	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	310	V	I	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	518	R	Q	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	194	A	P	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	225	S	L	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	269	G	S	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	342	L	F	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	146	E	K	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	452	R	W	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	173	V	D	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	525	A	V	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	292	G	D	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	314	G	D	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	526	K	E	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	573	F	L	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	178	A	T	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	524	V	G	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	543	E	K	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	111	Y	C	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	547	Q	R	Unclassified	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	300	A	T	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	309	T	R	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	360	R	G	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	269	G	D	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	273	L	F	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51787	KCNQ1_HUMAN	254	V	M	Disease	Long QT syndrome 1 (LQT1) [MIM:192500]
P51788	CLCN2_HUMAN	172	R	Q	Disease	Hyperaldosteronism, familial, 2 (HALD2) [MIM:605635]
P51788	CLCN2_HUMAN	500	A	V	Disease	Leukoencephalopathy with ataxia (LKPAT) [MIM:615651]
P51788	CLCN2_HUMAN	718	E	D	Polymorphism	-
P51788	CLCN2_HUMAN	26	Y	N	Disease	Hyperaldosteronism, familial, 2 (HALD2) [MIM:605635]
P51788	CLCN2_HUMAN	719	S	L	Unclassified	-
P51788	CLCN2_HUMAN	725	R	W	Polymorphism	-
P51788	CLCN2_HUMAN	668	T	S	Polymorphism	-
P51788	CLCN2_HUMAN	22	M	K	Disease	Hyperaldosteronism, familial, 2 (HALD2) [MIM:605635]
P51788	CLCN2_HUMAN	199	G	A	Polymorphism	-
P51788	CLCN2_HUMAN	646	R	Q	Polymorphism	-
P51788	CLCN2_HUMAN	865	S	R	Disease	Hyperaldosteronism, familial, 2 (HALD2) [MIM:605635]
P51788	CLCN2_HUMAN	747	R	H	Polymorphism	-
P51788	CLCN2_HUMAN	24	G	D	Disease	Hyperaldosteronism, familial, 2 (HALD2) [MIM:605635]
P51788	CLCN2_HUMAN	235	R	Q	Disease	Juvenile myoclonic epilepsy 8 (EJM8) [MIM:607628]
P51788	CLCN2_HUMAN	68	R	H	Polymorphism	-
P51788	CLCN2_HUMAN	644	R	C	Polymorphism	-
P51788	CLCN2_HUMAN	577	R	Q	Disease	Epilepsy, idiopathic generalized 11 (EIG11) [MIM:607628]
P51788	CLCN2_HUMAN	715	G	E	Unclassified	Juvenile absence epilepsy 2 (JAE2) [MIM:607628]
P51788	CLCN2_HUMAN	48	P	R	Polymorphism	-
P51793	CLCN4_HUMAN	221	L	V	Disease	Raynaud-Claes syndrome (MRXSRC) [MIM:300114]
P51793	CLCN4_HUMAN	78	G	S	Disease	Raynaud-Claes syndrome (MRXSRC) [MIM:300114]
P51793	CLCN4_HUMAN	544	G	R	Disease	Raynaud-Claes syndrome (MRXSRC) [MIM:300114]
P51793	CLCN4_HUMAN	731	G	R	Disease	Raynaud-Claes syndrome (MRXSRC) [MIM:300114]
P51793	CLCN4_HUMAN	536	V	M	Disease	Raynaud-Claes syndrome (MRXSRC) [MIM:300114]
P51795	CLCN5_HUMAN	512	G	R	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	545	S	N	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	203	S	L	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	546	K	E	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	221	C	R	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	212	G	A	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	506	G	E	Disease	Nephrolithiasis 1 (NPHL1) [MIM:310468]
P51795	CLCN5_HUMAN	244	S	L	Disease	Hypophosphatemic rickets, X-linked recessive (XLRHR) [MIM:300554]
P51795	CLCN5_HUMAN	513	G	R	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	273	F	L	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	657	T	S	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	219	C	R	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	340	N	K	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	272	Y	C	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	280	R	P	Disease	Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]
P51795	CLCN5_HUMAN	57	G	V	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	200	L	R	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	469	L	P	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	527	E	D	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	142	M	I	Polymorphism	-
P51795	CLCN5_HUMAN	524	I	K	Disease	Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]
P51795	CLCN5_HUMAN	516	R	W	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	267	E	A	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	462	G	D	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	520	S	P	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	270	S	G	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	547	W	G	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	270	S	R	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	179	G	D	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	513	G	E	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	260	G	V	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	278	L	F	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	333	G	R	Unclassified	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51795	CLCN5_HUMAN	225	L	P	Disease	Nephrolithiasis 2 (NPHL2) [MIM:300009]
P51797	CLCN6_HUMAN	198	E	G	Polymorphism	-
P51798	CLCN7_HUMAN	332	M	V	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	132	L	P	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	286	R	Q	Disease	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	347	G	R	Unclassified	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	299	A	V	Unclassified	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	490	L	F	Disease	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	767	R	W	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	249	P	R	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	762	R	Q	Disease	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	286	R	W	Unclassified	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	326	R	G	Unclassified	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	758	F	L	Disease	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	614	L	P	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	564	L	P	Unclassified	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	261	I	F	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	762	R	Q	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	215	G	R	Disease	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	473	S	N	Unclassified	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	767	R	Q	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	418	V	M	Polymorphism	-
P51798	CLCN7_HUMAN	766	L	P	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	526	R	W	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	290	S	Y	Unclassified	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	224	L	R	Unclassified	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	744	S	F	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	213	L	F	Unclassified	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	526	R	Q	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	318	F	L	Disease	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	767	R	W	Disease	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	651	L	P	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	762	R	W	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	521	G	R	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	677	G	V	Disease	Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]
P51798	CLCN7_HUMAN	767	R	P	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	549	L	P	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	403	R	Q	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	240	G	R	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51798	CLCN7_HUMAN	214	N	S	Disease	Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]
P51800	CLCKA_HUMAN	80	W	C	Disease	Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B) [MIM:613090]
P51800	CLCKA_HUMAN	534	R	W	Polymorphism	-
P51800	CLCKA_HUMAN	683	P	L	Polymorphism	-
P51800	CLCKA_HUMAN	315	Y	F	Polymorphism	-
P51800	CLCKA_HUMAN	357	H	Q	Polymorphism	-
P51800	CLCKA_HUMAN	447	A	T	Polymorphism	-
P51800	CLCKA_HUMAN	83	R	G	Polymorphism	-
P51800	CLCKA_HUMAN	45	R	H	Polymorphism	-
P51800	CLCKA_HUMAN	8	R	H	Polymorphism	-
P51800	CLCKA_HUMAN	67	M	I	Polymorphism	-
P51801	CLCKB_HUMAN	204	A	T	Disease	Bartter syndrome 3 (BARTS3) [MIM:607364]
P51801	CLCKB_HUMAN	578	K	E	Polymorphism	-
P51801	CLCKB_HUMAN	349	A	D	Disease	Bartter syndrome 3 (BARTS3) [MIM:607364]
P51801	CLCKB_HUMAN	419	I	V	Polymorphism	-
P51801	CLCKB_HUMAN	334	V	L	Polymorphism	-
P51801	CLCKB_HUMAN	143	N	H	Polymorphism	-
P51801	CLCKB_HUMAN	660	S	L	Polymorphism	-
P51801	CLCKB_HUMAN	395	R	W	Polymorphism	-
P51801	CLCKB_HUMAN	438	R	C	Disease	Bartter syndrome 3 (BARTS3) [MIM:607364]
P51801	CLCKB_HUMAN	124	P	L	Disease	Bartter syndrome 3 (BARTS3) [MIM:607364]
P51801	CLCKB_HUMAN	104	V	I	Polymorphism	-
P51801	CLCKB_HUMAN	88	S	R	Polymorphism	-
P51801	CLCKB_HUMAN	562	M	T	Polymorphism	-
P51801	CLCKB_HUMAN	481	T	S	Polymorphism	-
P51801	CLCKB_HUMAN	214	A	G	Polymorphism	-
P51801	CLCKB_HUMAN	4	F	L	Polymorphism	-
P51801	CLCKB_HUMAN	432	Y	H	Disease	Bartter syndrome 3 (BARTS3) [MIM:607364]
P51801	CLCKB_HUMAN	27	R	L	Polymorphism	-
P51801	CLCKB_HUMAN	287	A	V	Polymorphism	-
P51805	PLXA3_HUMAN	413	G	S	Polymorphism	-
P51805	PLXA3_HUMAN	384	G	S	Polymorphism	-
P51805	PLXA3_HUMAN	863	D	E	Polymorphism	-
P51810	GP143_HUMAN	186	R	W	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	186	R	P	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	84	G	D	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	116	C	S	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	116	C	G	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	185	E	K	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	89	S	F	Disease	Nystagmus congenital X-linked 6 (NYS6) [MIM:300814]
P51810	GP143_HUMAN	166	T	N	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	124	Q	R	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	116	C	W	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	35	G	D	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	81	G	V	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	152	S	N	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	132	W	R	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	261	I	N	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	78	D	V	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	229	G	V	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	39	L	R	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	244	I	V	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	292	W	C	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	134	L	P	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	133	W	R	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	116	C	R	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	78	D	N	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	271	E	G	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	292	W	G	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	138	A	V	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	5	R	C	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	118	G	E	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	233	E	K	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	232	T	K	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	173	A	D	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	235	E	K	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51810	GP143_HUMAN	84	G	R	Disease	Albinism ocular 1 (OA1) [MIM:300500]
P51811	XK_HUMAN	327	E	K	Disease	McLeod syndrome (MLS) [MIM:300842]
P51811	XK_HUMAN	222	R	G	Disease	McLeod syndrome (MLS) [MIM:300842]
P51811	XK_HUMAN	294	C	R	Disease	McLeod syndrome (MLS) [MIM:300842]
P51812	KS6A3_HUMAN	189	I	K	Disease	Coffin-Lowry syndrome (CLS) [MIM:303600]
P51812	KS6A3_HUMAN	225	A	V	Disease	Coffin-Lowry syndrome (CLS) [MIM:303600]
P51812	KS6A3_HUMAN	431	G	D	Disease	Coffin-Lowry syndrome (CLS) [MIM:303600]
P51812	KS6A3_HUMAN	729	R	Q	Disease	Coffin-Lowry syndrome (CLS) [MIM:303600]
P51812	KS6A3_HUMAN	383	R	W	Disease	Mental retardation, X-linked 19 (MRX19) [MIM:300844]
P51812	KS6A3_HUMAN	38	I	S	Polymorphism	-
P51812	KS6A3_HUMAN	127	H	Q	Disease	Coffin-Lowry syndrome (CLS) [MIM:303600]
P51812	KS6A3_HUMAN	114	R	W	Disease	Coffin-Lowry syndrome (CLS) [MIM:303600]
P51812	KS6A3_HUMAN	82	V	F	Disease	Coffin-Lowry syndrome (CLS) [MIM:303600]
P51812	KS6A3_HUMAN	154	D	Y	Disease	Coffin-Lowry syndrome (CLS) [MIM:303600]
P51812	KS6A3_HUMAN	75	G	V	Disease	Coffin-Lowry syndrome (CLS) [MIM:303600]
P51812	KS6A3_HUMAN	115	T	S	Disease	Mental retardation, X-linked 19 (MRX19) [MIM:300844]
P51812	KS6A3_HUMAN	416	I	V	Unclassified	A breast cancer sample
P51812	KS6A3_HUMAN	723	R	C	Polymorphism	-
P51812	KS6A3_HUMAN	483	Y	C	Unclassified	A gastric adenocarcinoma sample
P51812	KS6A3_HUMAN	608	L	F	Unclassified	A glioblastoma multiforme sample
P51812	KS6A3_HUMAN	227	S	A	Disease	Coffin-Lowry syndrome (CLS) [MIM:303600]
P51812	KS6A3_HUMAN	268	F	S	Disease	Coffin-Lowry syndrome (CLS) [MIM:303600]
P51813	BMX_HUMAN	670	R	W	Unclassified	A lung large cell carcinoma sample
P51813	BMX_HUMAN	284	S	L	Polymorphism	-
P51814	ZNF41_HUMAN	153	P	L	Unclassified	-
P51814	ZNF41_HUMAN	357	D	E	Polymorphism	-
P51814	ZNF41_HUMAN	167	I	R	Polymorphism	-
P51816	AFF2_HUMAN	1185	L	M	Polymorphism	-
P51817	PRKX_HUMAN	43	V	A	Polymorphism	-
P51825	AFF1_HUMAN	1204	Q	K	Unclassified	A breast cancer sample
P51825	AFF1_HUMAN	209	P	A	Polymorphism	-
P51826	AFF3_HUMAN	358	N	S	Polymorphism	-
P51826	AFF3_HUMAN	494	N	S	Polymorphism	-
P51826	AFF3_HUMAN	1215	G	V	Unclassified	-
P51841	GUC2F_HUMAN	628	R	Q	Polymorphism	-
P51841	GUC2F_HUMAN	677	V	L	Polymorphism	-
P51841	GUC2F_HUMAN	872	G	D	Polymorphism	-
P51841	GUC2F_HUMAN	1052	K	R	Unclassified	A lung adenocarcinoma sample
P51841	GUC2F_HUMAN	296	R	Q	Polymorphism	-
P51841	GUC2F_HUMAN	794	E	K	Polymorphism	-
P51841	GUC2F_HUMAN	380	Q	H	Polymorphism	-
P51841	GUC2F_HUMAN	308	Y	C	Polymorphism	-
P51841	GUC2F_HUMAN	305	R	Q	Polymorphism	-
P51841	GUC2F_HUMAN	10	R	P	Unclassified	A breast cancer sample
P51841	GUC2F_HUMAN	434	G	R	Polymorphism	-
P51841	GUC2F_HUMAN	160	I	N	Polymorphism	-
P51841	GUC2F_HUMAN	40	S	C	Polymorphism	-
P51841	GUC2F_HUMAN	1055	E	D	Unclassified	A lung squamous cell carcinoma sample
P51841	GUC2F_HUMAN	568	G	D	Unclassified	A glioblastoma multiforme sample
P51841	GUC2F_HUMAN	284	L	P	Polymorphism	-
P51841	GUC2F_HUMAN	1010	A	V	Polymorphism	-
P51841	GUC2F_HUMAN	230	R	W	Polymorphism	-
P51843	NR0B1_HUMAN	425	R	T	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	425	R	G	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	382	K	N	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	291	W	C	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	300	A	V	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	295	L	P	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	439	I	S	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	440	N	I	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	377	E	K	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	267	R	P	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	385	V	G	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	297	L	P	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	278	L	P	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	466	L	R	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	380	Y	D	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	287	V	G	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	300	A	P	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51843	NR0B1_HUMAN	381	L	H	Disease	Adrenal hypoplasia, congenital (AHC) [MIM:300200]
P51854	TKTL1_HUMAN	24	L	F	Polymorphism	-
P51854	TKTL1_HUMAN	152	I	T	Polymorphism	-
P51857	AK1D1_HUMAN	261	R	C	Disease	Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
P51857	AK1D1_HUMAN	106	L	F	Disease	Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
P51857	AK1D1_HUMAN	133	P	R	Disease	Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
P51857	AK1D1_HUMAN	198	P	L	Disease	Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
P51857	AK1D1_HUMAN	223	G	E	Disease	Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
P51858	HDGF_HUMAN	201	P	L	Polymorphism	-
P51878	CASP5_HUMAN	19	K	N	Polymorphism	-
P51878	CASP5_HUMAN	353	E	K	Polymorphism	-
P51878	CASP5_HUMAN	168	R	H	Polymorphism	-
P51878	CASP5_HUMAN	334	L	V	Polymorphism	-
P51878	CASP5_HUMAN	26	L	W	Polymorphism	-
P51878	CASP5_HUMAN	217	V	L	Polymorphism	-
P51878	CASP5_HUMAN	298	R	H	Polymorphism	-
P51878	CASP5_HUMAN	29	F	L	Polymorphism	-
P51878	CASP5_HUMAN	382	E	Q	Polymorphism	-
P51878	CASP5_HUMAN	106	T	A	Polymorphism	-
P51878	CASP5_HUMAN	75	L	R	Polymorphism	-
P51884	LUM_HUMAN	199	L	P	Polymorphism	-
P51888	PRELP_HUMAN	33	G	R	Polymorphism	-
P51888	PRELP_HUMAN	334	N	S	Polymorphism	-
P51888	PRELP_HUMAN	157	M	V	Polymorphism	-
P51888	PRELP_HUMAN	348	N	H	Polymorphism	-
P51946	CCNH_HUMAN	270	V	A	Polymorphism	-
P51946	CCNH_HUMAN	138	K	R	Polymorphism	-
P51946	CCNH_HUMAN	28	R	L	Polymorphism	-
P51946	CCNH_HUMAN	54	M	V	Polymorphism	-
P51948	MAT1_HUMAN	282	D	A	Polymorphism	-
P51955	NEK2_HUMAN	354	N	S	Polymorphism	-
P51955	NEK2_HUMAN	410	C	Y	Polymorphism	-
P51956	NEK3_HUMAN	122	R	H	Polymorphism	-
P51956	NEK3_HUMAN	305	E	D	Polymorphism	-
P51956	NEK3_HUMAN	23	H	L	Polymorphism	-
P51956	NEK3_HUMAN	170	P	L	Polymorphism	-
P51956	NEK3_HUMAN	461	D	N	Polymorphism	-
P51956	NEK3_HUMAN	259	R	G	Polymorphism	-
P51956	NEK3_HUMAN	60	P	R	Polymorphism	-
P51956	NEK3_HUMAN	477	E	K	Polymorphism	-
P51957	NEK4_HUMAN	456	Q	E	Polymorphism	-
P51957	NEK4_HUMAN	250	P	L	Polymorphism	-
P51957	NEK4_HUMAN	357	T	I	Polymorphism	-
P51957	NEK4_HUMAN	777	R	K	Unclassified	A colorectal adenocarcinoma sample
P51957	NEK4_HUMAN	225	P	A	Polymorphism	-
P51957	NEK4_HUMAN	239	R	G	Polymorphism	-
P51957	NEK4_HUMAN	567	F	L	Polymorphism	-
P51959	CCNG1_HUMAN	178	N	H	Polymorphism	-
P51959	CCNG1_HUMAN	179	F	L	Polymorphism	-
P51965	UB2E1_HUMAN	25	E	D	Polymorphism	-
P51970	NDUA8_HUMAN	140	N	H	Unclassified	A breast cancer sample
P51993	FUT6_HUMAN	303	R	G	Polymorphism	-
P51993	FUT6_HUMAN	247	E	K	Polymorphism	-
P51993	FUT6_HUMAN	244	L	V	Unclassified	-
P51993	FUT6_HUMAN	230	Q	K	Polymorphism	-
P51993	FUT6_HUMAN	124	P	S	Polymorphism	-
P52179	MYOM1_HUMAN	600	E	V	Polymorphism	-
P52179	MYOM1_HUMAN	1453	M	T	Polymorphism	-
P52179	MYOM1_HUMAN	181	S	P	Polymorphism	-
P52179	MYOM1_HUMAN	22	V	L	Polymorphism	-
P52179	MYOM1_HUMAN	215	T	M	Polymorphism	-
P52179	MYOM1_HUMAN	341	G	A	Polymorphism	-
P52179	MYOM1_HUMAN	960	I	T	Polymorphism	-
P52179	MYOM1_HUMAN	1408	D	N	Polymorphism	-
P52209	6PGD_HUMAN	268	A	S	Polymorphism	-
P52292	IMA1_HUMAN	165	P	R	Polymorphism	-
P52292	IMA1_HUMAN	453	K	N	Polymorphism	-
P52292	IMA1_HUMAN	365	G	S	Polymorphism	-
P52292	IMA1_HUMAN	157	A	V	Polymorphism	-
P52294	IMA5_HUMAN	73	S	N	Polymorphism	-
P52306	GDS1_HUMAN	56	S	T	Polymorphism	-
P52306	GDS1_HUMAN	314	K	E	Polymorphism	-
P52333	JAK3_HUMAN	910	L	S	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
P52333	JAK3_HUMAN	40	R	H	Polymorphism	-
P52333	JAK3_HUMAN	481	E	G	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
P52333	JAK3_HUMAN	722	V	I	Polymorphism	-
P52333	JAK3_HUMAN	100	Y	C	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
P52333	JAK3_HUMAN	169	D	E	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
P52333	JAK3_HUMAN	582	R	W	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
P52333	JAK3_HUMAN	521	L	V	Polymorphism	-
P52333	JAK3_HUMAN	688	I	F	Polymorphism	-
P52333	JAK3_HUMAN	759	C	R	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
P52333	JAK3_HUMAN	527	L	P	Unclassified	A gastric adenocarcinoma sample
P52333	JAK3_HUMAN	12	P	L	Polymorphism	-
P52333	JAK3_HUMAN	151	P	R	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
P52333	JAK3_HUMAN	132	P	T	Polymorphism	-
P52333	JAK3_HUMAN	589	G	S	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
P52429	DGKE_HUMAN	273	R	P	Disease	Hemolytic uremic syndrome atypical 7 (AHUS7) [MIM:615008]
P52429	DGKE_HUMAN	99	L	R	Unclassified	A breast cancer sample
P52429	DGKE_HUMAN	63	R	P	Disease	Hemolytic uremic syndrome atypical 7 (AHUS7) [MIM:615008]
P52569	CTR2_HUMAN	376	C	F	Polymorphism	-
P52569	CTR2_HUMAN	547	Q	L	Polymorphism	-
P52569	CTR2_HUMAN	20	V	M	Polymorphism	-
P52569	CTR2_HUMAN	531	A	T	Polymorphism	-
P52597	HNRPF_HUMAN	87	K	R	Polymorphism	-
P52630	STAT2_HUMAN	594	M	I	Polymorphism	-
P52630	STAT2_HUMAN	464	I	V	Polymorphism	-
P52630	STAT2_HUMAN	826	Q	H	Polymorphism	-
P52630	STAT2_HUMAN	66	Q	H	Polymorphism	-
P52630	STAT2_HUMAN	501	S	I	Polymorphism	-
P52630	STAT2_HUMAN	220	L	P	Polymorphism	-
P52630	STAT2_HUMAN	448	T	M	Polymorphism	-
P52630	STAT2_HUMAN	246	C	S	Polymorphism	-
P52655	TF2AA_HUMAN	109	A	P	Polymorphism	-
P52655	TF2AA_HUMAN	30	L	V	Unclassified	A breast cancer sample
P52701	MSH6_HUMAN	1284	T	M	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	1076	R	C	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	1100	T	M	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	20	A	V	Unclassified	Endometrial cancer (ENDMC) [MIM:608089]
P52701	MSH6_HUMAN	1031	D	V	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	1021	A	D	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	1095	R	H	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	1095	R	H	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	1158	C	R	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	854	K	M	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	728	K	T	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	685	G	A	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	1248	H	D	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	725	I	M	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	25	A	S	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	787	A	V	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	901	R	H	Unclassified	Endometrial cancer (ENDMC) [MIM:608089]
P52701	MSH6_HUMAN	449	L	P	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	20	A	V	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	1354	L	Q	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	340	F	S	Unclassified	Leukemia
P52701	MSH6_HUMAN	1087	P	T	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	1087	P	T	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	619	E	D	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	800	V	L	Polymorphism	-
P52701	MSH6_HUMAN	901	R	H	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	1234	E	Q	Polymorphism	-
P52701	MSH6_HUMAN	468	R	H	Polymorphism	-
P52701	MSH6_HUMAN	65	S	L	Polymorphism	-
P52701	MSH6_HUMAN	326	A	V	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	220	E	D	Polymorphism	-
P52701	MSH6_HUMAN	144	S	I	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	144	S	I	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	509	V	A	Polymorphism	-
P52701	MSH6_HUMAN	128	R	L	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	1193	E	K	Disease	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	25	A	V	Polymorphism	-
P52701	MSH6_HUMAN	878	V	A	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	698	Q	E	Unclassified	-
P52701	MSH6_HUMAN	566	G	R	Disease	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	1213	D	V	Polymorphism	-
P52701	MSH6_HUMAN	623	P	A	Polymorphism	-
P52701	MSH6_HUMAN	340	F	S	Unclassified	Breast cancer
P52701	MSH6_HUMAN	285	S	I	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	886	I	V	Polymorphism	-
P52701	MSH6_HUMAN	1232	V	L	Polymorphism	-
P52701	MSH6_HUMAN	1026	D	Y	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	772	R	W	Disease	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	772	R	Q	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	623	P	L	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	522	Q	R	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	803	D	G	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	976	R	H	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	295	K	R	Polymorphism	-
P52701	MSH6_HUMAN	13	K	T	Polymorphism	-
P52701	MSH6_HUMAN	1087	P	R	Polymorphism	-
P52701	MSH6_HUMAN	1260	V	I	Polymorphism	-
P52701	MSH6_HUMAN	1163	E	V	Disease	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	800	V	A	Disease	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	1354	L	Q	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	340	F	S	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	435	L	P	Polymorphism	-
P52701	MSH6_HUMAN	20	A	V	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	538	Y	S	Polymorphism	-
P52701	MSH6_HUMAN	585	L	P	Polymorphism	-
P52701	MSH6_HUMAN	39	G	E	Polymorphism	-
P52701	MSH6_HUMAN	492	M	V	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	221	E	D	Polymorphism	-
P52701	MSH6_HUMAN	850	Y	C	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	503	S	C	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	449	L	P	Unclassified	Endometrial cancer (ENDMC) [MIM:608089]
P52701	MSH6_HUMAN	54	G	A	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	580	S	L	Polymorphism	-
P52701	MSH6_HUMAN	1087	P	S	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	1321	R	G	Polymorphism	-
P52701	MSH6_HUMAN	878	V	A	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	1219	T	I	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	566	G	R	Disease	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	1225	T	M	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	677	S	T	Polymorphism	-
P52701	MSH6_HUMAN	396	L	V	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	850	Y	C	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	99	K	N	Unclassified	Colorectal cancer (CRC) [MIM:114500]
P52701	MSH6_HUMAN	610	K	N	Unclassified	Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
P52701	MSH6_HUMAN	878	V	A	Unclassified	Endometrial cancer (ENDMC) [MIM:608089]
P52732	KIF11_HUMAN	144	F	L	Disease	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
P52732	KIF11_HUMAN	1042	L	F	Polymorphism	-
P52732	KIF11_HUMAN	235	S	C	Disease	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
P52732	KIF11_HUMAN	234	R	C	Disease	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
P52732	KIF11_HUMAN	944	R	C	Disease	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
P52735	VAV2_HUMAN	594	M	V	Polymorphism	-
P52736	ZN133_HUMAN	193	S	T	Polymorphism	-
P52736	ZN133_HUMAN	194	G	E	Polymorphism	-
P52737	ZN136_HUMAN	107	Y	C	Polymorphism	-
P52738	ZN140_HUMAN	386	A	V	Polymorphism	-
P52740	ZN132_HUMAN	203	G	D	Polymorphism	-
P52740	ZN132_HUMAN	252	P	L	Polymorphism	-
P52741	ZN134_HUMAN	207	S	R	Polymorphism	-
P52741	ZN134_HUMAN	46	A	T	Polymorphism	-
P52741	ZN134_HUMAN	30	I	T	Polymorphism	-
P52742	ZN135_HUMAN	579	G	R	Polymorphism	-
P52742	ZN135_HUMAN	592	S	L	Polymorphism	-
P52742	ZN135_HUMAN	517	T	A	Polymorphism	-
P52742	ZN135_HUMAN	507	S	L	Polymorphism	-
P52742	ZN135_HUMAN	22	G	D	Polymorphism	-
P52743	ZN137_HUMAN	181	Q	H	Polymorphism	-
P52743	ZN137_HUMAN	112	R	Q	Polymorphism	-
P52744	ZN138_HUMAN	62	G	E	Polymorphism	-
P52746	ZN142_HUMAN	1313	A	T	Polymorphism	-
P52746	ZN142_HUMAN	956	L	H	Polymorphism	-
P52746	ZN142_HUMAN	751	S	G	Polymorphism	-
P52747	ZN143_HUMAN	461	G	D	Polymorphism	-
P52747	ZN143_HUMAN	561	E	Q	Polymorphism	-
P52756	RBM5_HUMAN	163	K	N	Polymorphism	-
P52757	CHIO_HUMAN	438	P	S	Polymorphism	-
P52757	CHIO_HUMAN	204	H	R	Polymorphism	-
P52788	SPSY_HUMAN	56	G	S	Disease	X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
P52788	SPSY_HUMAN	67	G	E	Disease	X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
P52788	SPSY_HUMAN	328	Y	C	Disease	X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
P52788	SPSY_HUMAN	132	V	G	Disease	X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
P52788	SPSY_HUMAN	58	F	L	Disease	X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
P52788	SPSY_HUMAN	60	N	S	Polymorphism	-
P52789	HXK2_HUMAN	353	R	C	Polymorphism	-
P52789	HXK2_HUMAN	387	A	S	Polymorphism	-
P52789	HXK2_HUMAN	331	T	I	Polymorphism	-
P52789	HXK2_HUMAN	274	R	C	Polymorphism	-
P52789	HXK2_HUMAN	497	R	Q	Polymorphism	-
P52789	HXK2_HUMAN	775	R	Q	Polymorphism	-
P52789	HXK2_HUMAN	314	A	V	Polymorphism	-
P52789	HXK2_HUMAN	801	R	Q	Polymorphism	-
P52789	HXK2_HUMAN	844	R	K	Polymorphism	-
P52789	HXK2_HUMAN	314	A	P	Polymorphism	-
P52789	HXK2_HUMAN	148	L	F	Polymorphism	-
P52789	HXK2_HUMAN	142	Q	H	Polymorphism	-
P52789	HXK2_HUMAN	881	D	N	Polymorphism	-
P52790	HXK3_HUMAN	480	R	W	Unclassified	A colorectal cancer sample
P52790	HXK3_HUMAN	499	A	V	Unclassified	A breast cancer sample
P52790	HXK3_HUMAN	281	G	R	Polymorphism	-
P52797	EFNA3_HUMAN	190	V	M	Polymorphism	-
P52803	EFNA5_HUMAN	55	N	K	Polymorphism	-
P52815	RM12_HUMAN	105	S	P	Polymorphism	-
P52824	DGKQ_HUMAN	27	P	L	Polymorphism	-
P52848	NDST1_HUMAN	642	E	D	Disease	Mental retardation, autosomal recessive 46 (MRT46) [MIM:616116]
P52848	NDST1_HUMAN	709	R	Q	Disease	Mental retardation, autosomal recessive 46 (MRT46) [MIM:616116]
P52848	NDST1_HUMAN	640	F	L	Disease	Mental retardation, autosomal recessive 46 (MRT46) [MIM:616116]
P52848	NDST1_HUMAN	611	G	S	Disease	Mental retardation, autosomal recessive 46 (MRT46) [MIM:616116]
P52895	AK1C2_HUMAN	46	F	Y	Polymorphism	-
P52895	AK1C2_HUMAN	300	N	T	Disease	46,XY sex reversal 8 (SRXY8) [MIM:614279]
P52895	AK1C2_HUMAN	79	I	V	Disease	46,XY sex reversal 8 (SRXY8) [MIM:614279]
P52895	AK1C2_HUMAN	90	H	Q	Disease	46,XY sex reversal 8 (SRXY8) [MIM:614279]
P52895	AK1C2_HUMAN	172	L	Q	Polymorphism	-
P52895	AK1C2_HUMAN	222	H	Q	Disease	46,XY sex reversal 8 (SRXY8) [MIM:614279]
P52907	CAZA1_HUMAN	219	S	L	Polymorphism	-
P52945	PDX1_HUMAN	76	D	N	Polymorphism	-
P52945	PDX1_HUMAN	18	C	R	Polymorphism	-
P52945	PDX1_HUMAN	197	R	H	Polymorphism	-
P52945	PDX1_HUMAN	59	Q	L	Polymorphism	-
P52948	NUP98_HUMAN	1669	G	V	Unclassified	A breast cancer sample
P52952	NKX25_HUMAN	305	S	G	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	22	Q	P	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P52952	NKX25_HUMAN	323	A	T	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	219	A	V	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P52952	NKX25_HUMAN	194	K	R	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	22	Q	P	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	187	Q	H	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	133	P	S	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	279	S	P	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	21	E	Q	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P52952	NKX25_HUMAN	25	R	C	Unclassified	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	74	G	D	Polymorphism	-
P52952	NKX25_HUMAN	236	P	H	Unclassified	-
P52952	NKX25_HUMAN	25	R	C	Unclassified	Tetralogy of Fallot (TOF) [MIM:187500]
P52952	NKX25_HUMAN	25	R	C	Unclassified	Hypoplastic left heart syndrome 2 (HLHS2) [MIM:614435]
P52952	NKX25_HUMAN	190	R	C	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	283	P	Q	Disease	Ventricular septal defect 3 (VSD3) [MIM:614432]
P52952	NKX25_HUMAN	294	N	H	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	286	A	V	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	178	T	M	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	16	D	A	Polymorphism	-
P52952	NKX25_HUMAN	119	A	S	Disease	Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) [MIM:225250]
P52952	NKX25_HUMAN	188	N	K	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	323	A	T	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P52952	NKX25_HUMAN	205	V	E	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	59	P	A	Disease	Ventricular septal defect 3 (VSD3) [MIM:614432]
P52952	NKX25_HUMAN	275	P	T	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	135	A	T	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	15	K	I	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	63	A	V	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	192	K	R	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	216	R	C	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P52952	NKX25_HUMAN	192	K	T	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	126	E	V	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	216	R	C	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	226	D	N	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	21	E	Q	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	299	D	G	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	248	Y	H	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	322	R	Q	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	19	N	S	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	124	K	R	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	161	R	P	Disease	Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) [MIM:225250]
P52952	NKX25_HUMAN	183	K	E	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	25	R	C	Unclassified	Conotruncal heart malformations (CTHM) [MIM:217095]
P52952	NKX25_HUMAN	219	A	V	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	279	S	F	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	51	F	L	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	191	Y	C	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	320	G	S	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	114	C	S	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	114	C	R	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	45	S	P	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	281	A	V	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	77	P	L	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	142	R	C	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	118	K	R	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	127	A	E	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	25	R	C	Unclassified	Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) [MIM:225250]
P52952	NKX25_HUMAN	144	L	P	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	69	L	P	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	7	L	P	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52952	NKX25_HUMAN	189	R	G	Disease	Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]
P52961	NAR1_HUMAN	126	P	R	Polymorphism	-
P52961	NAR1_HUMAN	257	L	P	Polymorphism	-
P52961	NAR1_HUMAN	105	P	L	Polymorphism	-
P53004	BIEA_HUMAN	56	Q	R	Polymorphism	-
P53004	BIEA_HUMAN	37	L	V	Polymorphism	-
P53004	BIEA_HUMAN	3	A	T	Polymorphism	-
P53007	TXTP_HUMAN	130	G	D	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	28	A	T	Unclassified	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	45	P	L	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	193	S	W	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	202	M	T	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	167	G	R	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	144	E	Q	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	93	G	D	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	198	R	H	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	282	R	H	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	282	R	G	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	40	I	N	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	238	N	S	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	247	R	Q	Disease	Myasthenic syndrome, congenital, 23, presynaptic (CMS23) [MIM:618197]
P53007	TXTP_HUMAN	262	C	R	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	47	E	K	Unclassified	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	297	Y	C	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53007	TXTP_HUMAN	282	R	C	Disease	Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]
P53350	PLK1_HUMAN	595	S	L	Polymorphism	-
P53350	PLK1_HUMAN	297	N	D	Polymorphism	-
P53350	PLK1_HUMAN	332	L	V	Polymorphism	-
P53350	PLK1_HUMAN	261	L	F	Polymorphism	-
P53350	PLK1_HUMAN	12	R	L	Unclassified	A lung squamous cell carcinoma sample
P53350	PLK1_HUMAN	463	L	H	Polymorphism	-
P53350	PLK1_HUMAN	518	R	H	Polymorphism	-
P53350	PLK1_HUMAN	599	R	H	Polymorphism	-
P53355	DAPK1_HUMAN	622	I	M	Polymorphism	-
P53355	DAPK1_HUMAN	1405	G	V	Polymorphism	-
P53355	DAPK1_HUMAN	540	C	Y	Polymorphism	-
P53355	DAPK1_HUMAN	1346	S	N	Polymorphism	-
P53355	DAPK1_HUMAN	994	D	E	Polymorphism	-
P53355	DAPK1_HUMAN	591	P	L	Polymorphism	-
P53355	DAPK1_HUMAN	1272	M	I	Polymorphism	-
P53355	DAPK1_HUMAN	519	S	A	Polymorphism	-
P53355	DAPK1_HUMAN	1008	L	P	Polymorphism	-
P53355	DAPK1_HUMAN	993	Y	C	Polymorphism	-
P53355	DAPK1_HUMAN	416	V	I	Polymorphism	-
P53355	DAPK1_HUMAN	941	M	T	Polymorphism	-
P53355	DAPK1_HUMAN	1018	T	A	Polymorphism	-
P53355	DAPK1_HUMAN	1007	D	Y	Polymorphism	-
P53355	DAPK1_HUMAN	1005	E	Q	Polymorphism	-
P53355	DAPK1_HUMAN	978	K	N	Polymorphism	-
P53355	DAPK1_HUMAN	1010	R	C	Polymorphism	-
P53355	DAPK1_HUMAN	461	A	S	Polymorphism	-
P53355	DAPK1_HUMAN	977	R	W	Polymorphism	-
P53370	NUDT6_HUMAN	114	C	R	Polymorphism	-
P53370	NUDT6_HUMAN	209	R	Q	Polymorphism	-
P53384	NUBP1_HUMAN	39	P	A	Polymorphism	-
P53396	ACLY_HUMAN	175	E	D	Polymorphism	-
P53420	CO4A4_HUMAN	545	G	A	Polymorphism	-
P53420	CO4A4_HUMAN	1201	G	S	Polymorphism	-
P53420	CO4A4_HUMAN	594	E	G	Polymorphism	-
P53420	CO4A4_HUMAN	1572	P	L	Polymorphism	-
P53420	CO4A4_HUMAN	1403	S	P	Polymorphism	-
P53420	CO4A4_HUMAN	931	A	T	Polymorphism	-
P53420	CO4A4_HUMAN	1327	V	M	Polymorphism	-
P53420	CO4A4_HUMAN	570	E	Q	Polymorphism	-
P53420	CO4A4_HUMAN	670	V	I	Polymorphism	-
P53420	CO4A4_HUMAN	1030	G	V	Polymorphism	-
P53420	CO4A4_HUMAN	1402	P	S	Polymorphism	-
P53420	CO4A4_HUMAN	897	G	E	Disease	Hematuria, benign familial (BFH) [MIM:141200]
P53420	CO4A4_HUMAN	960	G	R	Disease	Hematuria, benign familial (BFH) [MIM:141200]
P53420	CO4A4_HUMAN	999	G	E	Disease	Hematuria, benign familial (BFH) [MIM:141200]
P53420	CO4A4_HUMAN	6	I	T	Polymorphism	-
P53420	CO4A4_HUMAN	759	P	L	Polymorphism	-
P53420	CO4A4_HUMAN	1132	P	L	Disease	Hematuria, benign familial (BFH) [MIM:141200]
P53420	CO4A4_HUMAN	1004	P	L	Polymorphism	-
P53420	CO4A4_HUMAN	482	P	S	Polymorphism	-
P53420	CO4A4_HUMAN	116	G	E	Disease	Hematuria, benign familial (BFH) [MIM:141200]
P53539	FOSB_HUMAN	33	G	S	Polymorphism	-
P53597	SUCA_HUMAN	14	M	L	Disease	Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400]
P53597	SUCA_HUMAN	85	G	A	Disease	Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400]
P53597	SUCA_HUMAN	170	P	R	Disease	Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400]
P53597	SUCA_HUMAN	37	G	A	Polymorphism	-
P53602	MVD1_HUMAN	101	P	R	Unclassified	Porokeratosis 7, multiple types (POROK7) [MIM:614714]
P53602	MVD1_HUMAN	278	N	H	Polymorphism	-
P53602	MVD1_HUMAN	161	R	Q	Disease	Porokeratosis 7, multiple types (POROK7) [MIM:614714]
P53602	MVD1_HUMAN	128	A	V	Unclassified	Porokeratosis 7, multiple types (POROK7) [MIM:614714]
P53602	MVD1_HUMAN	161	R	L	Unclassified	Porokeratosis 7, multiple types (POROK7) [MIM:614714]
P53602	MVD1_HUMAN	228	R	W	Unclassified	Porokeratosis 7, multiple types (POROK7) [MIM:614714]
P53602	MVD1_HUMAN	376	G	R	Unclassified	Porokeratosis 7, multiple types (POROK7) [MIM:614714]
P53602	MVD1_HUMAN	228	R	Q	Unclassified	Porokeratosis 7, multiple types (POROK7) [MIM:614714]
P53602	MVD1_HUMAN	249	F	S	Disease	Porokeratosis 7, multiple types (POROK7) [MIM:614714]
P53602	MVD1_HUMAN	292	N	S	Disease	Porokeratosis 7, multiple types (POROK7) [MIM:614714]
P53609	PGTB1_HUMAN	103	I	V	Polymorphism	-
P53621	COPA_HUMAN	1040	V	G	Polymorphism	-
P53621	COPA_HUMAN	241	E	K	Disease	Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414]
P53621	COPA_HUMAN	233	R	H	Disease	Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414]
P53621	COPA_HUMAN	230	K	N	Disease	Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414]
P53621	COPA_HUMAN	243	D	G	Disease	Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414]
P53621	COPA_HUMAN	164	I	V	Unclassified	-
P53634	CATC_HUMAN	127	H	P	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	286	Q	R	Disease	Haim-Munk syndrome (HMS) [MIM:245010]
P53634	CATC_HUMAN	319	E	G	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	236	D	Y	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	139	G	R	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	340	Y	C	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	412	Y	C	Disease	Periodontititis, aggressive, 1 (AP1) [MIM:170650]
P53634	CATC_HUMAN	301	G	V	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	291	C	Y	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	300	G	S	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	301	G	S	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	249	V	F	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	447	E	G	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	252	Q	L	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	272	R	H	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	272	R	P	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	347	Y	C	Disease	Periodontititis, aggressive, 1 (AP1) [MIM:170650]
P53634	CATC_HUMAN	405	H	N	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	39	W	S	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	339	R	C	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	300	G	D	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	405	H	R	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	429	W	C	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	129	V	E	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	153	I	T	Polymorphism	-
P53634	CATC_HUMAN	347	Y	C	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	304	Y	N	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	286	Q	R	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	453	I	V	Polymorphism	-
P53634	CATC_HUMAN	312	Q	R	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	294	Y	H	Disease	Papillon-Lefevre syndrome (PLS) [MIM:245000]
P53634	CATC_HUMAN	401	E	K	Polymorphism	-
P53667	LIMK1_HUMAN	580	F	Y	Polymorphism	-
P53667	LIMK1_HUMAN	190	G	A	Polymorphism	-
P53667	LIMK1_HUMAN	247	S	N	Polymorphism	-
P53667	LIMK1_HUMAN	422	R	Q	Polymorphism	-
P53671	LIMK2_HUMAN	381	R	H	Polymorphism	-
P53671	LIMK2_HUMAN	45	D	N	Polymorphism	-
P53671	LIMK2_HUMAN	35	G	S	Polymorphism	-
P53671	LIMK2_HUMAN	296	P	R	Polymorphism	-
P53671	LIMK2_HUMAN	213	R	C	Polymorphism	-
P53671	LIMK2_HUMAN	418	R	C	Polymorphism	-
P53672	CRBA2_HUMAN	7	P	S	Polymorphism	-
P53672	CRBA2_HUMAN	50	V	M	Disease	Cataract 42 (CTRCT42) [MIM:115900]
P53673	CRBA4_HUMAN	64	G	W	Disease	Cataract 23, multiple types (CTRCT23) [MIM:610425]
P53673	CRBA4_HUMAN	69	L	P	Disease	Cataract 23, multiple types (CTRCT23) [MIM:610425]
P53673	CRBA4_HUMAN	94	F	S	Disease	Cataract 23, multiple types (CTRCT23) [MIM:610425]
P53673	CRBA4_HUMAN	84	T	M	Polymorphism	-
P53673	CRBA4_HUMAN	36	V	M	Polymorphism	-
P53674	CRBB1_HUMAN	96	V	F	Disease	Cataract 17, multiple types (CTRCT17) [MIM:611544]
P53674	CRBB1_HUMAN	129	S	R	Disease	-
P53675	CLH2_HUMAN	1316	M	V	Polymorphism	-
P53675	CLH2_HUMAN	61	P	L	Polymorphism	-
P53675	CLH2_HUMAN	1620	R	H	Polymorphism	-
P53675	CLH2_HUMAN	1046	R	C	Polymorphism	-
P53675	CLH2_HUMAN	1394	I	T	Polymorphism	-
P53675	CLH2_HUMAN	1592	V	M	Polymorphism	-
P53675	CLH2_HUMAN	279	Y	C	Polymorphism	-
P53675	CLH2_HUMAN	1195	N	S	Polymorphism	-
P53675	CLH2_HUMAN	691	E	K	Polymorphism	-
P53675	CLH2_HUMAN	941	K	R	Polymorphism	-
P53675	CLH2_HUMAN	205	K	R	Polymorphism	-
P53675	CLH2_HUMAN	945	R	H	Polymorphism	-
P53680	AP2S1_HUMAN	15	R	L	Disease	Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740]
P53680	AP2S1_HUMAN	15	R	C	Disease	Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740]
P53680	AP2S1_HUMAN	15	R	H	Disease	Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740]
P53701	CCHL_HUMAN	217	R	C	Disease	Linear skin defects with multiple congenital anomalies 1 (LSDMCA1) [MIM:309801]
P53708	ITA8_HUMAN	216	V	L	Polymorphism	-
P53708	ITA8_HUMAN	577	S	F	Polymorphism	-
P53708	ITA8_HUMAN	567	V	L	Polymorphism	-
P53708	ITA8_HUMAN	993	I	V	Polymorphism	-
P53708	ITA8_HUMAN	407	G	R	Disease	Renal hypodysplasia/aplasia 1 (RHDA1) [MIM:191830]
P53708	ITA8_HUMAN	748	R	H	Polymorphism	-
P53708	ITA8_HUMAN	255	T	M	Unclassified	Renal hypodysplasia/aplasia 1 (RHDA1) [MIM:191830]
P53708	ITA8_HUMAN	994	V	A	Polymorphism	-
P53708	ITA8_HUMAN	581	Q	P	Polymorphism	-
P53778	MK12_HUMAN	230	D	N	Polymorphism	-
P53778	MK12_HUMAN	244	T	M	Polymorphism	-
P53778	MK12_HUMAN	103	T	M	Polymorphism	-
P53794	SC5A3_HUMAN	50	T	A	Polymorphism	-
P53794	SC5A3_HUMAN	566	Q	K	Polymorphism	-
P53804	TTC3_HUMAN	1289	K	M	Unclassified	A breast cancer sample
P53804	TTC3_HUMAN	1751	D	H	Polymorphism	-
P53804	TTC3_HUMAN	1154	P	S	Polymorphism	-
P53804	TTC3_HUMAN	840	M	T	Polymorphism	-
P53814	SMTN_HUMAN	637	R	Q	Unclassified	A colorectal cancer sample
P53814	SMTN_HUMAN	642	R	C	Polymorphism	-
P53814	SMTN_HUMAN	580	A	T	Polymorphism	-
P53814	SMTN_HUMAN	559	A	V	Polymorphism	-
P53814	SMTN_HUMAN	547	A	P	Polymorphism	-
P53814	SMTN_HUMAN	763	A	V	Unclassified	A colorectal cancer sample
P53814	SMTN_HUMAN	455	G	D	Polymorphism	-
P53985	MOT1_HUMAN	490	D	E	Polymorphism	-
P53985	MOT1_HUMAN	204	K	E	Disease	Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]
P53985	MOT1_HUMAN	313	R	Q	Disease	Monocarboxylate transporter 1 deficiency (MCT1D) [MIM:616095]
P53985	MOT1_HUMAN	472	G	R	Disease	Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]
P53985	MOT1_HUMAN	85	S	G	Polymorphism	-
P53992	SC24C_HUMAN	934	L	P	Polymorphism	-
P53992	SC24C_HUMAN	109	P	S	Polymorphism	-
P53999	TCP4_HUMAN	11	S	G	Polymorphism	-
P54098	DPOG1_HUMAN	889	A	T	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	251	T	I	Disease	Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]
P54098	DPOG1_HUMAN	497	Q	H	Disease	Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459]
P54098	DPOG1_HUMAN	831	Y	C	Unclassified	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	1143	E	G	Polymorphism	-
P54098	DPOG1_HUMAN	18	P	S	Polymorphism	-
P54098	DPOG1_HUMAN	546	R	C	Polymorphism	-
P54098	DPOG1_HUMAN	324	P	S	Polymorphism	-
P54098	DPOG1_HUMAN	468	N	D	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	497	Q	H	Disease	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
P54098	DPOG1_HUMAN	662	E	K	Polymorphism	-
P54098	DPOG1_HUMAN	955	Y	C	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
P54098	DPOG1_HUMAN	1110	H	Y	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	957	A	P	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	251	T	I	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	587	P	L	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	227	R	W	Disease	Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]
P54098	DPOG1_HUMAN	587	P	L	Disease	Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]
P54098	DPOG1_HUMAN	431	G	V	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	312	W	R	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	467	A	T	Disease	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
P54098	DPOG1_HUMAN	193	R	Q	Polymorphism	-
P54098	DPOG1_HUMAN	914	T	P	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	1047	R	Q	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	748	W	S	Unclassified	Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459]
P54098	DPOG1_HUMAN	467	A	T	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	467	A	T	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	864	N	S	Disease	Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]
P54098	DPOG1_HUMAN	579	R	W	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	848	G	S	Disease	Leigh syndrome (LS) [MIM:256000]
P54098	DPOG1_HUMAN	1134	H	R	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	1146	R	C	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	848	G	S	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	807	R	C	Disease	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
P54098	DPOG1_HUMAN	1142	R	W	Polymorphism	-
P54098	DPOG1_HUMAN	574	R	W	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	957	A	S	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
P54098	DPOG1_HUMAN	308	Q	H	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	848	G	S	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	304	L	R	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	1184	D	N	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	748	W	S	Unclassified	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
P54098	DPOG1_HUMAN	463	L	F	Polymorphism	-
P54098	DPOG1_HUMAN	1236	Q	H	Polymorphism	-
P54098	DPOG1_HUMAN	251	T	I	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	1106	V	I	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	232	R	G	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	1136	E	K	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	1051	G	R	Disease	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
P54098	DPOG1_HUMAN	923	G	D	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
P54098	DPOG1_HUMAN	562	R	Q	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	380	G	D	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	831	Y	C	Unclassified	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
P54098	DPOG1_HUMAN	1076	G	V	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	1191	K	N	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	309	R	L	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	879	Q	H	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	244	L	P	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	227	R	W	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	748	W	S	Unclassified	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	467	A	T	Disease	Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459]
P54098	DPOG1_HUMAN	268	G	A	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	853	R	W	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	1105	A	T	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	1096	R	H	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	1176	S	L	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
P54098	DPOG1_HUMAN	848	G	S	Disease	Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]
P54098	DPOG1_HUMAN	3	R	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	1104	S	C	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	603	M	L	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	517	G	V	Disease	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
P54098	DPOG1_HUMAN	587	P	L	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	943	R	H	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
P54098	DPOG1_HUMAN	1186	D	H	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
P54098	DPOG1_HUMAN	648	P	R	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	511	S	N	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
P54098	DPOG1_HUMAN	885	T	S	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	807	R	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	953	R	C	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
P54098	DPOG1_HUMAN	932	H	Y	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	627	R	W	Disease	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
P54098	DPOG1_HUMAN	737	G	R	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54098	DPOG1_HUMAN	932	H	Y	Disease	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
P54098	DPOG1_HUMAN	627	R	Q	Disease	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
P54098	DPOG1_HUMAN	767	A	D	Disease	Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
P54098	DPOG1_HUMAN	232	R	H	Disease	Leigh syndrome (LS) [MIM:256000]
P54098	DPOG1_HUMAN	1096	R	C	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
P54105	ICLN_HUMAN	20	Q	H	Polymorphism	-
P54105	ICLN_HUMAN	218	M	T	Polymorphism	-
P54108	CRIS3_HUMAN	134	A	S	Polymorphism	-
P54108	CRIS3_HUMAN	106	S	P	Polymorphism	-
P54132	BLM_HUMAN	1209	S	T	Polymorphism	-
P54132	BLM_HUMAN	891	G	E	Disease	Bloom syndrome (BLM) [MIM:210900]
P54132	BLM_HUMAN	1055	C	S	Disease	Bloom syndrome (BLM) [MIM:210900]
P54132	BLM_HUMAN	298	T	M	Polymorphism	-
P54132	BLM_HUMAN	841	I	T	Disease	Bloom syndrome (BLM) [MIM:210900]
P54132	BLM_HUMAN	1036	C	F	Disease	Bloom syndrome (BLM) [MIM:210900]
P54132	BLM_HUMAN	1205	V	I	Polymorphism	-
P54132	BLM_HUMAN	1213	E	K	Polymorphism	-
P54132	BLM_HUMAN	878	C	R	Disease	Bloom syndrome (BLM) [MIM:210900]
P54132	BLM_HUMAN	843	T	I	Disease	Bloom syndrome (BLM) [MIM:210900]
P54132	BLM_HUMAN	591	R	Q	Polymorphism	-
P54132	BLM_HUMAN	1043	A	D	Polymorphism	-
P54132	BLM_HUMAN	1321	V	I	Polymorphism	-
P54132	BLM_HUMAN	868	P	L	Polymorphism	-
P54132	BLM_HUMAN	137	K	R	Polymorphism	-
P54132	BLM_HUMAN	901	C	Y	Disease	Bloom syndrome (BLM) [MIM:210900]
P54132	BLM_HUMAN	672	Q	R	Disease	Bloom syndrome (BLM) [MIM:210900]
P54136	SYRC_HUMAN	3	V	I	Polymorphism	-
P54136	SYRC_HUMAN	397	F	Y	Polymorphism	-
P54136	SYRC_HUMAN	512	R	Q	Disease	Leukodystrophy, hypomyelinating, 9 (HLD9) [MIM:616140]
P54136	SYRC_HUMAN	2	D	G	Disease	Leukodystrophy, hypomyelinating, 9 (HLD9) [MIM:616140]
P54136	SYRC_HUMAN	135	R	G	Polymorphism	-
P54219	VMAT1_HUMAN	82	F	C	Polymorphism	-
P54219	VMAT1_HUMAN	202	I	T	Polymorphism	-
P54219	VMAT1_HUMAN	140	G	R	Polymorphism	-
P54219	VMAT1_HUMAN	101	A	P	Polymorphism	-
P54219	VMAT1_HUMAN	136	I	T	Polymorphism	-
P54219	VMAT1_HUMAN	98	S	T	Polymorphism	-
P54219	VMAT1_HUMAN	74	A	V	Polymorphism	-
P54219	VMAT1_HUMAN	11	R	Q	Polymorphism	-
P54219	VMAT1_HUMAN	164	I	M	Polymorphism	-
P54219	VMAT1_HUMAN	84	F	S	Polymorphism	-
P54219	VMAT1_HUMAN	392	L	V	Polymorphism	-
P54219	VMAT1_HUMAN	249	V	I	Polymorphism	-
P54219	VMAT1_HUMAN	4	T	P	Polymorphism	-
P54252	ATX3_HUMAN	212	V	M	Polymorphism	-
P54253	ATX1_HUMAN	209	H	Q	Polymorphism	-
P54253	ATX1_HUMAN	753	P	S	Polymorphism	-
P54257	HAP1_HUMAN	357	S	L	Polymorphism	-
P54257	HAP1_HUMAN	557	A	V	Polymorphism	-
P54257	HAP1_HUMAN	58	S	T	Polymorphism	-
P54257	HAP1_HUMAN	483	F	L	Polymorphism	-
P54257	HAP1_HUMAN	493	T	M	Polymorphism	-
P54257	HAP1_HUMAN	560	F	L	Polymorphism	-
P54257	HAP1_HUMAN	488	A	V	Polymorphism	-
P54257	HAP1_HUMAN	4	K	R	Polymorphism	-
P54257	HAP1_HUMAN	437	R	W	Polymorphism	-
P54257	HAP1_HUMAN	656	G	R	Polymorphism	-
P54257	HAP1_HUMAN	408	L	F	Polymorphism	-
P54259	ATN1_HUMAN	339	M	I	Polymorphism	-
P54277	PMS1_HUMAN	394	M	T	Polymorphism	-
P54277	PMS1_HUMAN	27	E	Q	Polymorphism	-
P54277	PMS1_HUMAN	501	G	R	Polymorphism	-
P54277	PMS1_HUMAN	720	E	D	Polymorphism	-
P54277	PMS1_HUMAN	632	N	S	Polymorphism	-
P54277	PMS1_HUMAN	202	R	K	Polymorphism	-
P54277	PMS1_HUMAN	793	Y	H	Polymorphism	-
P54278	PMS2_HUMAN	705	E	K	Disease	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	853	I	M	Polymorphism	-
P54278	PMS2_HUMAN	66	I	T	Unclassified	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	18	I	V	Polymorphism	-
P54278	PMS2_HUMAN	479	H	Q	Unclassified	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	182	A	T	Unclassified	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	511	T	A	Polymorphism	-
P54278	PMS2_HUMAN	307	N	K	Unclassified	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	479	H	Q	Unclassified	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	470	P	S	Polymorphism	-
P54278	PMS2_HUMAN	46	S	I	Disease	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	511	T	P	Polymorphism	-
P54278	PMS2_HUMAN	475	V	E	Polymorphism	-
P54278	PMS2_HUMAN	36	S	R	Polymorphism	-
P54278	PMS2_HUMAN	622	M	I	Unclassified	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	705	E	K	Disease	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	277	T	K	Polymorphism	-
P54278	PMS2_HUMAN	485	T	K	Polymorphism	-
P54278	PMS2_HUMAN	775	N	S	Polymorphism	-
P54278	PMS2_HUMAN	107	R	W	Disease	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	488	A	V	Unclassified	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	750	G	D	Unclassified	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	46	S	I	Disease	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	205	Q	P	Unclassified	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	792	D	N	Polymorphism	-
P54278	PMS2_HUMAN	60	D	E	Polymorphism	-
P54278	PMS2_HUMAN	20	R	Q	Polymorphism	-
P54278	PMS2_HUMAN	571	L	I	Polymorphism	-
P54278	PMS2_HUMAN	541	K	E	Polymorphism	-
P54278	PMS2_HUMAN	46	S	N	Disease	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	597	T	S	Polymorphism	-
P54278	PMS2_HUMAN	437	P	S	Unclassified	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	263	L	V	Unclassified	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	504	E	Q	Unclassified	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	699	D	H	Polymorphism	-
P54278	PMS2_HUMAN	115	C	G	Disease	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	205	Q	P	Unclassified	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	563	R	L	Polymorphism	-
P54278	PMS2_HUMAN	207	G	E	Unclassified	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	663	E	A	Unclassified	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	263	L	V	Unclassified	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	815	S	L	Disease	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	585	L	I	Unclassified	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
P54278	PMS2_HUMAN	423	A	T	Polymorphism	-
P54278	PMS2_HUMAN	797	M	R	Unclassified	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	585	L	I	Unclassified	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54278	PMS2_HUMAN	511	T	M	Polymorphism	-
P54278	PMS2_HUMAN	857	G	A	Polymorphism	-
P54278	PMS2_HUMAN	843	C	Y	Disease	Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
P54284	CACB3_HUMAN	423	R	H	Polymorphism	-
P54289	CA2D1_HUMAN	1057	D	A	Polymorphism	-
P54289	CA2D1_HUMAN	1019	E	D	Polymorphism	-
P54296	MYOM2_HUMAN	601	S	Y	Polymorphism	-
P54296	MYOM2_HUMAN	776	T	M	Polymorphism	-
P54296	MYOM2_HUMAN	321	V	L	Polymorphism	-
P54296	MYOM2_HUMAN	869	N	S	Polymorphism	-
P54296	MYOM2_HUMAN	81	E	K	Polymorphism	-
P54296	MYOM2_HUMAN	1284	E	D	Polymorphism	-
P54296	MYOM2_HUMAN	1022	L	F	Polymorphism	-
P54296	MYOM2_HUMAN	701	V	I	Polymorphism	-
P54296	MYOM2_HUMAN	182	T	M	Polymorphism	-
P54296	MYOM2_HUMAN	363	V	I	Polymorphism	-
P54296	MYOM2_HUMAN	1168	V	A	Polymorphism	-
P54315	LIPR1_HUMAN	61	N	D	Polymorphism	-
P54315	LIPR1_HUMAN	414	E	D	Polymorphism	-
P54315	LIPR1_HUMAN	129	S	C	Unclassified	A breast cancer sample
P54315	LIPR1_HUMAN	461	L	P	Polymorphism	-
P54315	LIPR1_HUMAN	271	A	V	Polymorphism	-
P54317	LIPR2_HUMAN	361	I	V	Polymorphism	-
P54368	OAZ1_HUMAN	53	S	F	Polymorphism	-
P54368	OAZ1_HUMAN	44	G	D	Polymorphism	-
P54368	OAZ1_HUMAN	147	A	V	Polymorphism	-
P54368	OAZ1_HUMAN	50	S	F	Polymorphism	-
P54368	OAZ1_HUMAN	32	R	L	Polymorphism	-
P54577	SYYC_HUMAN	41	G	R	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, C (CMTDIC) [MIM:608323]
P54577	SYYC_HUMAN	170	Q	H	Polymorphism	-
P54577	SYYC_HUMAN	196	E	K	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, C (CMTDIC) [MIM:608323]
P54577	SYYC_HUMAN	274	E	K	Unclassified	-
P54619	AAKG1_HUMAN	329	K	N	Polymorphism	-
P54619	AAKG1_HUMAN	89	T	S	Polymorphism	-
P54646	AAPK2_HUMAN	371	P	T	Unclassified	Breast cancer samples
P54646	AAPK2_HUMAN	407	R	Q	Unclassified	A gastric adenocarcinoma sample
P54646	AAPK2_HUMAN	523	S	G	Unclassified	A breast cancer sample
P54652	HSP72_HUMAN	191	C	S	Polymorphism	-
P54652	HSP72_HUMAN	496	K	E	Polymorphism	-
P54687	BCAT1_HUMAN	59	T	M	Polymorphism	-
P54687	BCAT1_HUMAN	330	G	S	Polymorphism	-
P54687	BCAT1_HUMAN	321	E	K	Polymorphism	-
P54707	AT12A_HUMAN	863	P	L	Polymorphism	-
P54710	ATNG_HUMAN	41	G	R	Disease	Hypomagnesemia 2 (HOMG2) [MIM:154020]
P54725	RD23A_HUMAN	179	R	Q	Polymorphism	-
P54725	RD23A_HUMAN	200	T	M	Polymorphism	-
P54725	RD23A_HUMAN	131	T	A	Polymorphism	-
P54727	RD23B_HUMAN	249	A	V	Polymorphism	-
P54753	EPHB3_HUMAN	601	I	L	Polymorphism	-
P54753	EPHB3_HUMAN	168	R	L	Unclassified	A lung small cell carcinoma sample
P54753	EPHB3_HUMAN	440	R	C	Polymorphism	-
P54753	EPHB3_HUMAN	579	I	V	Polymorphism	-
P54753	EPHB3_HUMAN	724	R	W	Unclassified	A lung neuroendocrine carcinoma sample
P54756	EPHA5_HUMAN	959	H	R	Polymorphism	-
P54756	EPHA5_HUMAN	856	T	I	Unclassified	A lung squamous cell carcinoma sample
P54756	EPHA5_HUMAN	503	E	K	Unclassified	A lung large cell carcinoma sample
P54756	EPHA5_HUMAN	672	A	T	Polymorphism	-
P54756	EPHA5_HUMAN	506	Y	C	Polymorphism	-
P54756	EPHA5_HUMAN	673	S	T	Polymorphism	-
P54756	EPHA5_HUMAN	81	N	T	Polymorphism	-
P54756	EPHA5_HUMAN	417	R	Q	Unclassified	A lung adenocarcinoma sample
P54756	EPHA5_HUMAN	582	G	E	Unclassified	A lung adenocarcinoma sample
P54756	EPHA5_HUMAN	235	S	A	Polymorphism	-
P54756	EPHA5_HUMAN	330	E	Q	Polymorphism	-
P54756	EPHA5_HUMAN	1032	N	S	Unclassified	A lung large cell carcinoma sample
P54760	EPHB4_HUMAN	802	D	G	Disease	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	864	R	W	Disease	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	656	R	W	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	650	K	N	Disease	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	874	L	P	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	469	V	G	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	745	N	D	Disease	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	820	P	T	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	807	G	R	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	856	C	Y	Disease	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	664	E	K	Disease	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	725	A	T	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	789	P	R	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	678	R	H	Polymorphism	-
P54760	EPHB4_HUMAN	371	A	V	Polymorphism	-
P54760	EPHB4_HUMAN	838	R	W	Disease	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	820	P	L	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	867	F	L	Disease	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	187	L	P	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	162	K	R	Polymorphism	-
P54760	EPHB4_HUMAN	739	R	Q	Disease	Lymphatic malformation 7 (LMPHM7) [MIM:617300]
P54760	EPHB4_HUMAN	516	G	R	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	113	V	I	Polymorphism	-
P54760	EPHB4_HUMAN	789	P	S	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	576	D	E	Polymorphism	-
P54760	EPHB4_HUMAN	346	P	L	Unclassified	A metastatic melanoma sample
P54760	EPHB4_HUMAN	74	R	P	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	882	A	T	Polymorphism	-
P54760	EPHB4_HUMAN	890	E	D	Polymorphism	-
P54760	EPHB4_HUMAN	845	C	R	Disease	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	67	P	L	Polymorphism	-
P54760	EPHB4_HUMAN	782	I	S	Disease	Lymphatic malformation 7 (LMPHM7) [MIM:617300]
P54760	EPHB4_HUMAN	268	C	R	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	107	C	R	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	59	E	K	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	889	R	W	Unclassified	A gastric adenocarcinoma sample
P54760	EPHB4_HUMAN	870	V	E	Unclassified	Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]
P54760	EPHB4_HUMAN	509	A	G	Polymorphism	-
P54762	EPHB1_HUMAN	912	A	T	Polymorphism	-
P54762	EPHB1_HUMAN	847	M	T	Polymorphism	-
P54762	EPHB1_HUMAN	87	T	S	Polymorphism	-
P54762	EPHB1_HUMAN	973	R	W	Polymorphism	-
P54762	EPHB1_HUMAN	719	I	V	Unclassified	A gastric adenocarcinoma sample
P54762	EPHB1_HUMAN	707	S	T	Unclassified	An ovarian undifferentiated carcinoma sample
P54762	EPHB1_HUMAN	152	G	R	Polymorphism	-
P54762	EPHB1_HUMAN	387	T	M	Polymorphism	-
P54762	EPHB1_HUMAN	981	T	M	Polymorphism	-
P54762	EPHB1_HUMAN	485	R	S	Polymorphism	-
P54762	EPHB1_HUMAN	18	M	V	Polymorphism	-
P54762	EPHB1_HUMAN	743	R	Q	Unclassified	A gastric adenocarcinoma sample
P54762	EPHB1_HUMAN	367	R	G	Polymorphism	-
P54764	EPHA4_HUMAN	370	G	E	Unclassified	A bladder carcinoma NOS sample
P54764	EPHA4_HUMAN	269	R	Q	Polymorphism	-
P54764	EPHA4_HUMAN	953	R	K	Polymorphism	-
P54764	EPHA4_HUMAN	399	S	F	Unclassified	A metastatic melanoma sample
P54793	ARSF_HUMAN	527	H	Y	Polymorphism	-
P54802	ANAG_HUMAN	48	F	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	242	L	P	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	130	R	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	241	V	M	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	560	L	P	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	591	L	P	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	455	Y	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	248	H	R	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	643	R	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	35	L	F	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	38	R	W	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	612	S	G	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	48	F	L	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	77	V	G	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	79	G	S	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	437	T	I	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	156	W	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	227	H	P	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	234	R	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	246	A	P	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	501	V	G	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	69	G	S	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	309	Y	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	520	R	W	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	82	G	D	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	705	E	K	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	154	I	R	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	314	F	L	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	521	P	L	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	446	E	K	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	565	R	W	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	649	W	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	482	R	Q	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	658	Y	F	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	674	R	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	561	L	R	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	676	R	P	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	565	R	Q	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	550	L	P	Unclassified	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	737	R	G	Polymorphism	-
P54802	ANAG_HUMAN	412	G	E	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	674	R	H	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	682	L	R	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	79	G	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	414	H	R	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	650	G	E	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	277	C	F	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	115	P	S	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	268	W	R	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	153	E	K	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	403	I	T	Disease	Charcot-Marie-Tooth disease 2V (CMT2V) [MIM:616491]
P54802	ANAG_HUMAN	292	G	R	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	534	S	Y	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	482	R	W	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	664	A	V	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	335	Y	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	565	R	P	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	617	L	F	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	100	H	R	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	474	W	G	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	280	L	P	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	92	Y	H	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	516	P	L	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	452	E	K	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	410	F	S	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	643	R	H	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	334	V	F	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	358	P	L	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	243	P	L	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54802	ANAG_HUMAN	140	Y	C	Disease	Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]
P54803	GALC_HUMAN	468	T	S	Unclassified	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	184	R	C	Polymorphism	-
P54803	GALC_HUMAN	314	Y	C	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	514	F	S	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	529	T	M	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	286	G	D	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	41	G	S	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	79	R	H	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	396	R	W	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	544	D	N	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	553	G	R	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	111	G	S	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	531	R	C	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	318	P	A	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	130	E	K	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	531	R	H	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	82	I	M	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	396	R	L	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	303	S	F	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	21	A	P	Polymorphism	-
P54803	GALC_HUMAN	335	Y	C	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	426	W	G	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	305	I	V	Polymorphism	-
P54803	GALC_HUMAN	248	D	N	Polymorphism	-
P54803	GALC_HUMAN	112	T	A	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	278	T	I	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	323	G	R	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	634	L	S	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	263	A	T	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	295	N	T	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	250	I	T	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	194	G	A	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	384	I	T	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	318	P	R	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	562	I	T	Polymorphism	-
P54803	GALC_HUMAN	668	T	R	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	187	D	V	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	645	L	R	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	681	V	M	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	641	T	A	Polymorphism	-
P54803	GALC_HUMAN	117	M	L	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	284	G	S	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	400	P	L	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	490	Y	N	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	599	I	S	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	567	Y	S	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	59	G	R	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	111	G	D	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	566	V	G	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	592	A	S	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54803	GALC_HUMAN	68	S	F	Disease	Leukodystrophy, globoid cell (GLD) [MIM:245200]
P54819	KAD2_HUMAN	165	D	G	Disease	Reticular dysgenesis (RDYS) [MIM:267500]
P54819	KAD2_HUMAN	209	A	T	Polymorphism	-
P54819	KAD2_HUMAN	103	R	W	Disease	Reticular dysgenesis (RDYS) [MIM:267500]
P54821	PRRX1_HUMAN	113	F	S	Disease	Agnathia-otocephaly complex (AGOTC) [MIM:202650]
P54829	PTN5_HUMAN	170	P	A	Polymorphism	-
P54829	PTN5_HUMAN	561	H	R	Polymorphism	-
P54840	GYS2_HUMAN	479	P	Q	Disease	Glycogen storage disease 0 (GSD0) [MIM:240600]
P54840	GYS2_HUMAN	363	M	V	Polymorphism	-
P54840	GYS2_HUMAN	483	S	P	Disease	Glycogen storage disease 0 (GSD0) [MIM:240600]
P54840	GYS2_HUMAN	339	A	P	Disease	Glycogen storage disease 0 (GSD0) [MIM:240600]
P54840	GYS2_HUMAN	39	N	S	Disease	Glycogen storage disease 0 (GSD0) [MIM:240600]
P54840	GYS2_HUMAN	415	D	E	Polymorphism	-
P54840	GYS2_HUMAN	446	H	D	Disease	Glycogen storage disease 0 (GSD0) [MIM:240600]
P54840	GYS2_HUMAN	491	M	R	Disease	Glycogen storage disease 0 (GSD0) [MIM:240600]
P54840	GYS2_HUMAN	193	A	T	Polymorphism	-
P54845	NRL_HUMAN	122	G	E	Unclassified	Retinitis pigmentosa 27 (RP27) [MIM:613750]
P54845	NRL_HUMAN	170	R	S	Disease	Retinitis pigmentosa 27 (RP27) [MIM:613750]
P54845	NRL_HUMAN	96	M	T	Disease	Retinitis pigmentosa 27 (RP27) [MIM:613750]
P54845	NRL_HUMAN	50	S	L	Disease	Retinitis pigmentosa 27 (RP27) [MIM:613750]
P54845	NRL_HUMAN	51	P	T	Disease	Retinitis pigmentosa 27 (RP27) [MIM:613750]
P54845	NRL_HUMAN	51	P	L	Disease	Retinitis pigmentosa 27 (RP27) [MIM:613750]
P54845	NRL_HUMAN	50	S	P	Disease	Retinitis pigmentosa 27 (RP27) [MIM:613750]
P54845	NRL_HUMAN	160	L	P	Disease	Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:613750]
P54845	NRL_HUMAN	51	P	S	Disease	Retinitis pigmentosa 27 (RP27) [MIM:613750]
P54845	NRL_HUMAN	76	A	V	Unclassified	Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:613750]
P54845	NRL_HUMAN	67	P	S	Disease	Retinitis pigmentosa 27 (RP27) [MIM:613750]
P54845	NRL_HUMAN	125	H	Q	Unclassified	-
P54845	NRL_HUMAN	50	S	T	Disease	Retinitis pigmentosa 27 (RP27) [MIM:613750]
P54849	EMP1_HUMAN	57	S	N	Polymorphism	-
P54851	EMP2_HUMAN	10	A	T	Disease	Nephrotic syndrome 10 (NPHS10) [MIM:615861]
P54851	EMP2_HUMAN	7	F	L	Disease	Nephrotic syndrome 10 (NPHS10) [MIM:615861]
P54852	EMP3_HUMAN	125	I	V	Polymorphism	-
P54855	UDB15_HUMAN	85	Y	D	Polymorphism	-
P54855	UDB15_HUMAN	523	K	T	Polymorphism	-
P54868	HMCS2_HUMAN	54	V	M	Disease	3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
P54868	HMCS2_HUMAN	167	Y	C	Disease	3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
P54868	HMCS2_HUMAN	500	R	H	Disease	3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
P54868	HMCS2_HUMAN	212	G	R	Disease	3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
P54868	HMCS2_HUMAN	174	F	L	Disease	3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
P54886	P5CS_HUMAN	138	R	L	Disease	Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
P54886	P5CS_HUMAN	252	R	Q	Disease	Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
P54886	P5CS_HUMAN	128	R	H	Disease	Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
P54886	P5CS_HUMAN	84	R	Q	Disease	Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
P54886	P5CS_HUMAN	299	T	I	Disease	Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
P54886	P5CS_HUMAN	93	G	R	Disease	Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
P54886	P5CS_HUMAN	138	R	W	Disease	Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
P54886	P5CS_HUMAN	652	S	F	Disease	Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
P54886	P5CS_HUMAN	138	R	Q	Disease	Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
P54886	P5CS_HUMAN	784	H	Y	Disease	Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
P54886	P5CS_HUMAN	243	V	L	Disease	Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
P54886	P5CS_HUMAN	665	R	L	Disease	Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
P54886	P5CS_HUMAN	637	L	P	Disease	Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
P54886	P5CS_HUMAN	372	S	Y	Polymorphism	-
P54886	P5CS_HUMAN	715	D	H	Disease	Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
P54886	P5CS_HUMAN	120	V	A	Disease	Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
P54886	P5CS_HUMAN	782	Y	C	Disease	Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
P55000	SLUR1_HUMAN	98	L	P	Disease	Mal de Meleda (MDM) [MIM:248300]
P55000	SLUR1_HUMAN	94	C	S	Disease	Mal de Meleda (MDM) [MIM:248300]
P55000	SLUR1_HUMAN	71	R	H	Disease	Mal de Meleda (MDM) [MIM:248300]
P55000	SLUR1_HUMAN	71	R	P	Disease	Mal de Meleda (MDM) [MIM:248300]
P55000	SLUR1_HUMAN	15	W	R	Disease	Mal de Meleda (MDM) [MIM:248300]
P55000	SLUR1_HUMAN	86	G	R	Disease	Mal de Meleda (MDM) [MIM:248300]
P55000	SLUR1_HUMAN	99	C	Y	Disease	Mal de Meleda (MDM) [MIM:248300]
P55000	SLUR1_HUMAN	77	C	R	Disease	Mal de Meleda (MDM) [MIM:248300]
P55000	SLUR1_HUMAN	82	P	S	Unclassified	Mal de Meleda (MDM) [MIM:248300]
P55008	AIF1_HUMAN	14	G	R	Polymorphism	-
P55010	IF5_HUMAN	418	K	M	Unclassified	A breast cancer sample
P55017	S12A3_HUMAN	560	P	H	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	542	L	P	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	569	A	E	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	334	R	W	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	163	T	M	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	904	R	Q	Polymorphism	-
P55017	S12A3_HUMAN	615	S	W	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	569	A	V	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	824	S	T	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	235	T	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	980	G	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	919	R	C	Polymorphism	-
P55017	S12A3_HUMAN	399	R	C	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	751	P	L	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	731	G	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	849	L	F	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	985	C	Y	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	862	R	C	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	321	R	W	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	374	G	E	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	534	N	S	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	215	L	P	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	849	L	H	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	304	T	P	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	439	G	S	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	615	S	L	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	178	S	L	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	264	A	G	Polymorphism	-
P55017	S12A3_HUMAN	523	A	T	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	887	R	Q	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	935	R	W	Unclassified	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	613	G	S	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	478	K	E	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	192	I	T	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	313	A	V	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	261	R	H	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	226	A	T	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	209	R	Q	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	172	W	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	154	I	F	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	852	R	C	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	588	A	V	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	560	P	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	839	D	N	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	421	C	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	1021	Q	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	655	R	H	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	342	G	A	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	230	G	D	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	186	G	D	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	180	T	K	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	546	S	G	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	158	R	Q	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	150	I	M	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	642	R	H	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	507	R	C	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	872	M	T	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	555	S	L	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	463	G	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	578	V	M	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	121	E	D	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	316	G	V	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	284	K	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	283	S	Y	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	735	P	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	374	G	V	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	489	Y	H	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	871	R	H	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	536	F	L	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	647	V	M	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	475	S	C	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	655	R	L	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	934	R	W	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	854	R	K	Polymorphism	-
P55017	S12A3_HUMAN	392	T	I	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	463	G	E	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	643	P	L	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	272	L	P	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	62	D	H	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	145	R	C	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	464	A	T	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	738	L	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	157	L	P	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	349	P	L	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	259	D	N	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	83	R	Q	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	741	G	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	194	T	I	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	677	V	M	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	655	R	C	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	158	R	L	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	135	R	C	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	209	R	W	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	166	A	V	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	642	R	G	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	850	L	P	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	852	R	H	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	867	G	S	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	442	N	S	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	83	R	W	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	630	G	V	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	728	A	T	Polymorphism	-
P55017	S12A3_HUMAN	623	L	P	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	145	R	H	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	304	T	M	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	729	G	V	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	958	R	G	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	382	T	M	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	153	V	M	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	60	T	M	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	649	T	R	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	68	E	K	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	852	R	S	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	672	M	I	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	955	R	Q	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	677	V	L	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	62	D	N	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	496	G	C	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	69	H	N	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	90	H	Y	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	642	R	C	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	1009	R	Q	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55017	S12A3_HUMAN	486	D	N	Disease	Gitelman syndrome (GTLMNS) [MIM:263800]
P55039	DRG2_HUMAN	224	S	T	Polymorphism	-
P55039	DRG2_HUMAN	194	T	M	Polymorphism	-
P55040	GEM_HUMAN	43	R	G	Polymorphism	-
P55042	RAD_HUMAN	66	Q	P	Polymorphism	-
P55055	NR1H2_HUMAN	2	S	F	Polymorphism	-
P55056	APOC4_HUMAN	52	G	D	Polymorphism	-
P55056	APOC4_HUMAN	75	P	Q	Unclassified	A breast cancer sample
P55056	APOC4_HUMAN	96	L	R	Polymorphism	-
P55056	APOC4_HUMAN	126	Q	L	Polymorphism	-
P55056	APOC4_HUMAN	36	L	P	Polymorphism	-
P55058	PLTP_HUMAN	425	M	I	Polymorphism	-
P55058	PLTP_HUMAN	372	R	H	Polymorphism	-
P55058	PLTP_HUMAN	444	F	L	Polymorphism	-
P55058	PLTP_HUMAN	380	R	W	Polymorphism	-
P55058	PLTP_HUMAN	487	T	K	Polymorphism	-
P55058	PLTP_HUMAN	282	R	Q	Polymorphism	-
P55058	PLTP_HUMAN	124	S	Y	Polymorphism	-
P55060	XPO2_HUMAN	754	I	V	Polymorphism	-
P55060	XPO2_HUMAN	842	C	F	Unclassified	A colorectal cancer sample
P55060	XPO2_HUMAN	968	V	L	Polymorphism	-
P55064	AQP5_HUMAN	177	I	F	Disease	Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231]
P55064	AQP5_HUMAN	38	A	E	Disease	Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231]
P55064	AQP5_HUMAN	123	N	D	Disease	Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231]
P55064	AQP5_HUMAN	188	R	C	Disease	Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231]
P55064	AQP5_HUMAN	45	I	S	Disease	Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231]
P55072	TERA_HUMAN	159	R	G	Disease	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954]
P55072	TERA_HUMAN	126	I	F	Unclassified	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	198	L	W	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	155	R	L	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	592	D	N	Disease	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954]
P55072	TERA_HUMAN	232	A	E	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	387	N	H	Unclassified	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	155	R	H	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	155	R	P	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	97	G	E	Disease	Charcot-Marie-Tooth disease 2Y (CMT2Y) [MIM:616687]
P55072	TERA_HUMAN	191	R	Q	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	191	R	Q	Disease	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954]
P55072	TERA_HUMAN	155	R	C	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	95	R	G	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	155	R	H	Disease	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954]
P55072	TERA_HUMAN	155	R	S	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	159	R	H	Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
P55072	TERA_HUMAN	185	E	K	Disease	Charcot-Marie-Tooth disease 2Y (CMT2Y) [MIM:616687]
P55075	FGF8_HUMAN	116	R	G	Disease	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
P55075	FGF8_HUMAN	14	H	N	Disease	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
P55075	FGF8_HUMAN	26	P	L	Disease	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
P55075	FGF8_HUMAN	218	T	M	Disease	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
P55075	FGF8_HUMAN	89	K	E	Disease	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
P55075	FGF8_HUMAN	40	F	L	Disease	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
P55082	MFAP3_HUMAN	53	S	G	Polymorphism	-
P55083	MFAP4_HUMAN	173	A	V	Polymorphism	-
P55084	ECHB_HUMAN	117	R	G	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	61	R	C	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	121	L	P	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	133	T	P	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	119	A	V	Unclassified	A breast cancer sample
P55084	ECHB_HUMAN	61	R	H	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	242	D	G	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	280	G	D	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	301	G	S	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	444	R	K	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	209	P	S	Polymorphism	-
P55084	ECHB_HUMAN	263	D	G	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	294	P	R	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	247	R	H	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	294	P	L	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55084	ECHB_HUMAN	277	K	R	Polymorphism	-
P55084	ECHB_HUMAN	59	G	D	Disease	Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]
P55085	PAR2_HUMAN	21	S	F	Polymorphism	-
P55085	PAR2_HUMAN	270	R	Q	Polymorphism	-
P55085	PAR2_HUMAN	291	T	A	Polymorphism	-
P55085	PAR2_HUMAN	30	N	S	Polymorphism	-
P55103	INHBC_HUMAN	322	R	Q	Polymorphism	-
P55157	MTP_HUMAN	98	E	D	Polymorphism	-
P55157	MTP_HUMAN	540	R	C	Disease	Abetalipoproteinemia (ABL) [MIM:200100]
P55157	MTP_HUMAN	166	N	S	Polymorphism	-
P55157	MTP_HUMAN	746	G	E	Disease	Abetalipoproteinemia (ABL) [MIM:200100]
P55157	MTP_HUMAN	528	Y	H	Disease	Abetalipoproteinemia (ABL) [MIM:200100]
P55157	MTP_HUMAN	649	N	S	Unclassified	Abetalipoproteinemia (ABL) [MIM:200100]
P55157	MTP_HUMAN	168	V	I	Polymorphism	-
P55157	MTP_HUMAN	435	L	H	Disease	Abetalipoproteinemia (ABL) [MIM:200100]
P55157	MTP_HUMAN	264	G	R	Unclassified	Abetalipoproteinemia (ABL) [MIM:200100]
P55157	MTP_HUMAN	169	D	V	Disease	Abetalipoproteinemia (ABL) [MIM:200100]
P55157	MTP_HUMAN	297	H	Q	Polymorphism	-
P55157	MTP_HUMAN	780	N	Y	Disease	Abetalipoproteinemia (ABL) [MIM:200100]
P55157	MTP_HUMAN	244	Q	E	Polymorphism	-
P55157	MTP_HUMAN	384	D	A	Polymorphism	-
P55157	MTP_HUMAN	95	Q	H	Polymorphism	-
P55157	MTP_HUMAN	590	S	I	Disease	Abetalipoproteinemia (ABL) [MIM:200100]
P55157	MTP_HUMAN	128	I	T	Polymorphism	-
P55157	MTP_HUMAN	540	R	H	Disease	Abetalipoproteinemia (ABL) [MIM:200100]
P55160	NCKPL_HUMAN	391	T	A	Polymorphism	-
P55160	NCKPL_HUMAN	402	S	L	Polymorphism	-
P55198	AF17_HUMAN	198	A	T	Polymorphism	-
P55198	AF17_HUMAN	33	A	V	Polymorphism	-
P55199	ELL_HUMAN	387	R	W	Polymorphism	-
P55199	ELL_HUMAN	297	S	N	Polymorphism	-
P55201	BRPF1_HUMAN	1193	H	Q	Polymorphism	-
P55201	BRPF1_HUMAN	1117	G	E	Polymorphism	-
P55201	BRPF1_HUMAN	389	C	R	Disease	Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333]
P55201	BRPF1_HUMAN	370	P	S	Disease	Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333]
P55210	CASP7_HUMAN	4	D	E	Polymorphism	-
P55210	CASP7_HUMAN	255	D	E	Polymorphism	-
P55211	CASP9_HUMAN	221	Q	R	Polymorphism	-
P55211	CASP9_HUMAN	102	T	I	Polymorphism	-
P55211	CASP9_HUMAN	176	G	R	Polymorphism	-
P55211	CASP9_HUMAN	185	I	M	Polymorphism	-
P55211	CASP9_HUMAN	99	S	L	Polymorphism	-
P55211	CASP9_HUMAN	28	A	V	Polymorphism	-
P55211	CASP9_HUMAN	192	R	C	Polymorphism	-
P55211	CASP9_HUMAN	136	F	L	Polymorphism	-
P55211	CASP9_HUMAN	114	E	D	Polymorphism	-
P55211	CASP9_HUMAN	173	R	H	Polymorphism	-
P55211	CASP9_HUMAN	106	L	V	Polymorphism	-
P55212	CASP6_HUMAN	182	T	S	Polymorphism	-
P55212	CASP6_HUMAN	109	A	T	Polymorphism	-
P55212	CASP6_HUMAN	35	E	K	Polymorphism	-
P55263	ADK_HUMAN	30	G	E	Disease	Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
P55263	ADK_HUMAN	318	A	E	Disease	Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
P55263	ADK_HUMAN	235	D	A	Disease	Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
P55265	DSRAD_HUMAN	892	R	H	Disease	Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265	DSRAD_HUMAN	193	P	A	Disease	Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265	DSRAD_HUMAN	1165	F	S	Disease	Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
P55265	DSRAD_HUMAN	1007	G	R	Disease	Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265	DSRAD_HUMAN	870	A	T	Disease	Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265	DSRAD_HUMAN	1112	Y	F	Disease	Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265	DSRAD_HUMAN	587	Y	C	Polymorphism	-
P55265	DSRAD_HUMAN	384	K	R	Polymorphism	-
P55265	DSRAD_HUMAN	1113	D	H	Disease	Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265	DSRAD_HUMAN	100	R	G	Polymorphism	-
P55265	DSRAD_HUMAN	1155	R	W	Disease	Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
P55265	DSRAD_HUMAN	999	K	N	Disease	Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265	DSRAD_HUMAN	872	I	T	Disease	Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265	DSRAD_HUMAN	923	L	P	Disease	Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
P55265	DSRAD_HUMAN	806	E	V	Unclassified	A breast cancer sample
P55265	DSRAD_HUMAN	966	C	F	Disease	Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
P55268	LAMB2_HUMAN	1380	N	K	Disease	Pierson syndrome (PIERSS) [MIM:609049]
P55268	LAMB2_HUMAN	1393	L	F	Disease	Pierson syndrome (PIERSS) [MIM:609049]
P55268	LAMB2_HUMAN	321	C	R	Disease	Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199]
P55268	LAMB2_HUMAN	147	H	R	Disease	Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199]
P55268	LAMB2_HUMAN	1393	L	F	Disease	Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199]
P55268	LAMB2_HUMAN	321	C	R	Disease	Pierson syndrome (PIERSS) [MIM:609049]
P55268	LAMB2_HUMAN	1380	N	K	Disease	Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199]
P55268	LAMB2_HUMAN	987	E	K	Polymorphism	-
P55268	LAMB2_HUMAN	246	R	Q	Disease	Pierson syndrome (PIERSS) [MIM:609049]
P55268	LAMB2_HUMAN	246	R	W	Disease	Pierson syndrome (PIERSS) [MIM:609049]
P55283	CADH4_HUMAN	141	A	V	Polymorphism	-
P55283	CADH4_HUMAN	625	K	R	Polymorphism	-
P55287	CAD11_HUMAN	373	S	A	Polymorphism	-
P55287	CAD11_HUMAN	255	T	M	Polymorphism	-
P55287	CAD11_HUMAN	275	M	I	Polymorphism	-
P55289	CAD12_HUMAN	284	I	V	Polymorphism	-
P55289	CAD12_HUMAN	475	I	T	Polymorphism	-
P55289	CAD12_HUMAN	68	V	M	Polymorphism	-
P55290	CAD13_HUMAN	376	A	T	Polymorphism	-
P55290	CAD13_HUMAN	103	A	V	Polymorphism	-
P55290	CAD13_HUMAN	643	L	R	Polymorphism	-
P55290	CAD13_HUMAN	65	R	C	Polymorphism	-
P55290	CAD13_HUMAN	367	E	Q	Polymorphism	-
P55290	CAD13_HUMAN	121	L	S	Polymorphism	-
P55290	CAD13_HUMAN	246	R	W	Polymorphism	-
P55290	CAD13_HUMAN	113	G	R	Polymorphism	-
P55291	CAD15_HUMAN	8	V	L	Unclassified	Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580]
P55291	CAD15_HUMAN	60	R	C	Disease	Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580]
P55291	CAD15_HUMAN	92	R	W	Disease	Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580]
P55291	CAD15_HUMAN	122	A	V	Disease	Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580]
P55316	FOXG1_HUMAN	191	M	R	Unclassified	-
P55316	FOXG1_HUMAN	109	P	L	Polymorphism	-
P55316	FOXG1_HUMAN	215	F	L	Disease	Rett syndrome congenital variant (RTTCV) [MIM:613454]
P55316	FOXG1_HUMAN	232	N	S	Disease	-
P55316	FOXG1_HUMAN	244	R	C	Disease	Rett syndrome congenital variant (RTTCV) [MIM:613454]
P55317	FOXA1_HUMAN	83	A	T	Polymorphism	-
P55317	FOXA1_HUMAN	72	G	A	Polymorphism	-
P55317	FOXA1_HUMAN	185	Q	R	Polymorphism	-
P55317	FOXA1_HUMAN	448	S	N	Polymorphism	-
P55317	FOXA1_HUMAN	87	G	E	Polymorphism	-
P55318	FOXA3_HUMAN	91	G	R	Polymorphism	-
P55327	TPD52_HUMAN	52	D	Y	Polymorphism	-
P55344	LMIP_HUMAN	105	F	V	Disease	Cataract, multiple types 19 (CTRCT19) [MIM:615277]
P55347	PKNX1_HUMAN	216	T	A	Polymorphism	-
P55347	PKNX1_HUMAN	265	V	I	Unclassified	A colorectal cancer sample
P55347	PKNX1_HUMAN	126	R	H	Polymorphism	-
P55735	SEC13_HUMAN	172	S	L	Polymorphism	-
P55769	NH2L1_HUMAN	19	T	N	Polymorphism	-
P55771	PAX9_HUMAN	240	A	P	Polymorphism	-
P55771	PAX9_HUMAN	51	G	S	Disease	Tooth agenesis, selective, 3 (STHAG3) [MIM:604625]
P55773	CCL23_HUMAN	106	V	M	Polymorphism	-
P55789	ALR_HUMAN	194	R	H	Disease	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD) [MIM:613076]
P55789	ALR_HUMAN	166	F	L	Polymorphism	-
P55795	HNRH2_HUMAN	206	R	W	Disease	Mental retardation, X-linked, syndromic, Bain type (MRXSB) [MIM:300986]
P55795	HNRH2_HUMAN	209	P	L	Disease	Mental retardation, X-linked, syndromic, Bain type (MRXSB) [MIM:300986]
P55795	HNRH2_HUMAN	206	R	Q	Disease	Mental retardation, X-linked, syndromic, Bain type (MRXSB) [MIM:300986]
P55808	XG_HUMAN	60	D	N	Polymorphism	-
P55809	SCOT1_HUMAN	226	S	N	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
P55809	SCOT1_HUMAN	133	V	E	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
P55809	SCOT1_HUMAN	58	T	M	Polymorphism	-
P55809	SCOT1_HUMAN	219	G	E	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
P55809	SCOT1_HUMAN	327	L	P	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
P55809	SCOT1_HUMAN	404	V	F	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
P55809	SCOT1_HUMAN	215	A	V	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
P55809	SCOT1_HUMAN	221	V	M	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
P55809	SCOT1_HUMAN	456	C	F	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
P55809	SCOT1_HUMAN	324	G	E	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
P55809	SCOT1_HUMAN	468	R	C	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
P55809	SCOT1_HUMAN	405	S	P	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
P55822	SH3BG_HUMAN	188	V	A	Polymorphism	-
P55822	SH3BG_HUMAN	50	D	N	Polymorphism	-
P55822	SH3BG_HUMAN	23	D	E	Polymorphism	-
P55851	UCP2_HUMAN	154	R	Q	Polymorphism	-
P55851	UCP2_HUMAN	282	S	C	Polymorphism	-
P55851	UCP2_HUMAN	268	A	G	Polymorphism	-
P55851	UCP2_HUMAN	76	R	Q	Polymorphism	-
P55851	UCP2_HUMAN	55	A	V	Polymorphism	-
P55854	SUMO3_HUMAN	38	P	S	Polymorphism	-
P55884	EIF3B_HUMAN	793	D	E	Polymorphism	-
P55884	EIF3B_HUMAN	64	S	P	Polymorphism	-
P55895	RAG2_HUMAN	293	E	G	Polymorphism	-
P55895	RAG2_HUMAN	41	C	W	Disease	Omenn syndrome (OS) [MIM:603554]
P55895	RAG2_HUMAN	229	R	Q	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
P55895	RAG2_HUMAN	478	C	Y	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
P55895	RAG2_HUMAN	285	M	R	Disease	Omenn syndrome (OS) [MIM:603554]
P55895	RAG2_HUMAN	451	G	A	Disease	Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
P55895	RAG2_HUMAN	77	T	N	Disease	Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
P55916	UCP3_HUMAN	70	R	W	Polymorphism	-
P55916	UCP3_HUMAN	102	V	I	Disease	Obesity (OBESITY) [MIM:601665]
P55916	UCP3_HUMAN	9	V	M	Polymorphism	-
P55957	BID_HUMAN	194	M	T	Polymorphism	-
P55957	BID_HUMAN	10	S	G	Polymorphism	-
P55957	BID_HUMAN	162	H	Q	Polymorphism	-
P56159	GFRA1_HUMAN	366	T	A	Polymorphism	-
P56159	GFRA1_HUMAN	85	Y	N	Polymorphism	-
P56159	GFRA1_HUMAN	371	L	R	Polymorphism	-
P56177	DLX1_HUMAN	136	S	C	Polymorphism	-
P56178	DLX5_HUMAN	234	S	R	Polymorphism	-
P56178	DLX5_HUMAN	178	Q	P	Disease	Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D) [MIM:220600]
P56180	TPTE_HUMAN	549	G	E	Polymorphism	-
P56180	TPTE_HUMAN	195	R	Q	Polymorphism	-
P56180	TPTE_HUMAN	482	Y	S	Polymorphism	-
P56180	TPTE_HUMAN	470	L	P	Polymorphism	-
P56180	TPTE_HUMAN	386	K	E	Polymorphism	-
P56180	TPTE_HUMAN	144	R	Q	Unclassified	A breast cancer sample
P56182	RRP1_HUMAN	326	K	R	Polymorphism	-
P56182	RRP1_HUMAN	194	I	V	Polymorphism	-
P56192	SYMC_HUMAN	5	V	M	Unclassified	-
P56192	SYMC_HUMAN	727	R	Q	Polymorphism	-
P56192	SYMC_HUMAN	702	R	W	Unclassified	-
P56192	SYMC_HUMAN	393	A	T	Disease	Interstitial lung and liver disease (ILLD) [MIM:615486]
P56192	SYMC_HUMAN	800	P	T	Disease	Charcot-Marie-Tooth disease 2U (CMT2U) [MIM:616280]
P56192	SYMC_HUMAN	370	F	L	Disease	Interstitial lung and liver disease (ILLD) [MIM:615486]
P56192	SYMC_HUMAN	567	S	L	Disease	Interstitial lung and liver disease (ILLD) [MIM:615486]
P56192	SYMC_HUMAN	523	I	T	Disease	Interstitial lung and liver disease (ILLD) [MIM:615486]
P56192	SYMC_HUMAN	605	D	V	Disease	Interstitial lung and liver disease (ILLD) [MIM:615486]
P56192	SYMC_HUMAN	683	A	D	Polymorphism	-
P56192	SYMC_HUMAN	206	P	L	Polymorphism	-
P56192	SYMC_HUMAN	344	Y	C	Disease	Interstitial lung and liver disease (ILLD) [MIM:615486]
P56192	SYMC_HUMAN	618	R	C	Disease	Charcot-Marie-Tooth disease 2U (CMT2U) [MIM:616280]
P56199	ITA1_HUMAN	1108	E	G	Polymorphism	-
P56199	ITA1_HUMAN	670	V	I	Polymorphism	-
P56199	ITA1_HUMAN	480	T	M	Polymorphism	-
P56199	ITA1_HUMAN	961	I	M	Polymorphism	-
P56202	CATW_HUMAN	139	S	G	Polymorphism	-
P56202	CATW_HUMAN	218	Q	R	Polymorphism	-
P56279	TCL1A_HUMAN	56	V	I	Polymorphism	-
P56282	DPOE2_HUMAN	514	P	L	Polymorphism	-
P56282	DPOE2_HUMAN	456	L	V	Polymorphism	-
P56282	DPOE2_HUMAN	84	H	P	Polymorphism	-
P56373	P2RX3_HUMAN	383	A	V	Polymorphism	-
P56378	ATP68_HUMAN	9	I	V	Polymorphism	-
P56381	ATP5E_HUMAN	12	Y	C	Disease	Mitochondrial complex V deficiency, nuclear type 3 (MC5DN3) [MIM:614053]
P56470	LEG4_HUMAN	16	T	M	Polymorphism	-
P56524	HDAC4_HUMAN	727	P	R	Unclassified	A breast cancer sample
P56524	HDAC4_HUMAN	754	V	I	Polymorphism	-
P56539	CAV3_HUMAN	27	R	Q	Disease	HyperCKmia (HYPCK) [MIM:123320]
P56539	CAV3_HUMAN	79	L	R	Disease	Sudden infant death syndrome (SIDS) [MIM:272120]
P56539	CAV3_HUMAN	28	D	E	Disease	Rippling muscle disease 2 (RMD2) [MIM:606072]
P56539	CAV3_HUMAN	56	G	S	Polymorphism	-
P56539	CAV3_HUMAN	33	N	K	Disease	Myopathy, distal, Tateyama type (MPDT) [MIM:614321]
P56539	CAV3_HUMAN	27	R	Q	Disease	Myopathy, distal, Tateyama type (MPDT) [MIM:614321]
P56539	CAV3_HUMAN	105	P	L	Disease	Rippling muscle disease 2 (RMD2) [MIM:606072]
P56539	CAV3_HUMAN	46	A	V	Disease	Rippling muscle disease 2 (RMD2) [MIM:606072]
P56539	CAV3_HUMAN	97	F	C	Disease	Long QT syndrome 9 (LQT9) [MIM:611818]
P56539	CAV3_HUMAN	64	T	S	Disease	Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]
P56539	CAV3_HUMAN	29	P	L	Disease	HyperCKmia (HYPCK) [MIM:123320]
P56539	CAV3_HUMAN	46	A	T	Disease	Rippling muscle disease 2 (RMD2) [MIM:606072]
P56539	CAV3_HUMAN	79	L	R	Disease	Long QT syndrome 9 (LQT9) [MIM:611818]
P56539	CAV3_HUMAN	141	S	R	Disease	Long QT syndrome 9 (LQT9) [MIM:611818]
P56539	CAV3_HUMAN	44	V	E	Disease	Rippling muscle disease 2 (RMD2) [MIM:606072]
P56539	CAV3_HUMAN	57	V	M	Disease	HyperCKmia (HYPCK) [MIM:123320]
P56539	CAV3_HUMAN	72	C	W	Polymorphism	-
P56539	CAV3_HUMAN	27	R	Q	Disease	Rippling muscle disease 2 (RMD2) [MIM:606072]
P56539	CAV3_HUMAN	64	T	P	Disease	Rippling muscle disease 2 (RMD2) [MIM:606072]
P56539	CAV3_HUMAN	85	A	T	Disease	Long QT syndrome 9 (LQT9) [MIM:611818]
P56539	CAV3_HUMAN	61	S	R	Polymorphism	-
P56539	CAV3_HUMAN	14	V	L	Disease	Sudden infant death syndrome (SIDS) [MIM:272120]
P56539	CAV3_HUMAN	78	T	M	Disease	Sudden infant death syndrome (SIDS) [MIM:272120]
P56539	CAV3_HUMAN	87	L	P	Disease	Rippling muscle disease 2 (RMD2) [MIM:606072]
P56539	CAV3_HUMAN	53	S	G	Disease	Rippling muscle disease 2 (RMD2) [MIM:606072]
P56539	CAV3_HUMAN	78	T	M	Disease	Long QT syndrome 9 (LQT9) [MIM:611818]
P56539	CAV3_HUMAN	126	R	H	Polymorphism	-
P56539	CAV3_HUMAN	93	A	T	Disease	Rippling muscle disease 2 (RMD2) [MIM:606072]
P56539	CAV3_HUMAN	33	N	K	Disease	Rippling muscle disease 2 (RMD2) [MIM:606072]
P56556	NDUA6_HUMAN	9	A	V	Polymorphism	-
P56556	NDUA6_HUMAN	64	R	P	Disease	Mitochondrial complex I deficiency, nuclear type 33 (MC1DN33) [MIM:618253]
P56589	PEX3_HUMAN	138	G	E	Disease	Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882]
P56589	PEX3_HUMAN	82	Q	R	Polymorphism	-
P56589	PEX3_HUMAN	331	G	R	Disease	Peroxisome biogenesis disorder 10B (PBD10B) [MIM:617370]
P56645	PER3_HUMAN	1010	T	I	Polymorphism	-
P56645	PER3_HUMAN	414	P	A	Polymorphism	-
P56645	PER3_HUMAN	416	H	R	Polymorphism	-
P56645	PER3_HUMAN	639	V	G	Polymorphism	-
P56645	PER3_HUMAN	1007	A	T	Polymorphism	-
P56645	PER3_HUMAN	1149	H	R	Polymorphism	-
P56645	PER3_HUMAN	1028	M	T	Polymorphism	-
P56645	PER3_HUMAN	1081	S	C	Polymorphism	-
P56645	PER3_HUMAN	856	P	A	Polymorphism	-
P56645	PER3_HUMAN	827	L	P	Polymorphism	-
P56693	SOX10_HUMAN	108	M	T	Unclassified	-
P56693	SOX10_HUMAN	151	R	C	Polymorphism	-
P56693	SOX10_HUMAN	175	P	L	Disease	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
P56693	SOX10_HUMAN	112	M	I	Disease	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
P56693	SOX10_HUMAN	175	P	A	Disease	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
P56693	SOX10_HUMAN	150	K	N	Disease	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
P56693	SOX10_HUMAN	175	P	R	Disease	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
P56693	SOX10_HUMAN	161	R	C	Unclassified	-
P56693	SOX10_HUMAN	135	S	T	Disease	Waardenburg syndrome 2E (WS2E) [MIM:611584]
P56693	SOX10_HUMAN	111	F	V	Unclassified	-
P56693	SOX10_HUMAN	112	M	I	Disease	Waardenburg syndrome 2E (WS2E) [MIM:611584]
P56693	SOX10_HUMAN	174	Q	P	Disease	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
P56693	SOX10_HUMAN	106	R	W	Disease	Waardenburg syndrome 4C (WS4C) [MIM:613266]
P56693	SOX10_HUMAN	321	G	R	Disease	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
P56693	SOX10_HUMAN	135	S	G	Unclassified	-
P56693	SOX10_HUMAN	131	N	H	Disease	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
P56693	SOX10_HUMAN	145	L	P	Disease	Waardenburg syndrome 4C (WS4C) [MIM:613266]
P56693	SOX10_HUMAN	157	A	V	Disease	Waardenburg syndrome 4C (WS4C) [MIM:613266]
P56693	SOX10_HUMAN	161	R	H	Disease	Waardenburg syndrome 2E (WS2E) [MIM:611584]
P56696	KCNQ4_HUMAN	285	G	S	Disease	Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56696	KCNQ4_HUMAN	287	G	R	Disease	Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56696	KCNQ4_HUMAN	274	L	H	Disease	Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56696	KCNQ4_HUMAN	281	L	S	Disease	Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56696	KCNQ4_HUMAN	276	W	S	Disease	Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56696	KCNQ4_HUMAN	455	H	Q	Polymorphism	-
P56696	KCNQ4_HUMAN	285	G	C	Disease	Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56696	KCNQ4_HUMAN	321	G	S	Disease	Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56705	WNT4_HUMAN	12	L	P	Disease	Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330]
P56705	WNT4_HUMAN	114	A	V	Disease	46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]
P56705	WNT4_HUMAN	216	E	G	Disease	Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330]
P56705	WNT4_HUMAN	277	P	L	Polymorphism	-
P56705	WNT4_HUMAN	83	R	C	Disease	Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330]
P56715	RP1_HUMAN	251	Y	C	Polymorphism	-
P56715	RP1_HUMAN	373	T	I	Unclassified	Retinitis pigmentosa 1 (RP1) [MIM:180100]
P56715	RP1_HUMAN	1595	R	Q	Polymorphism	-
P56715	RP1_HUMAN	1356	L	S	Polymorphism	-
P56715	RP1_HUMAN	663	K	N	Unclassified	Retinitis pigmentosa 1 (RP1) [MIM:180100]
P56715	RP1_HUMAN	1793	P	S	Polymorphism	-
P56715	RP1_HUMAN	408	I	L	Polymorphism	-
P56715	RP1_HUMAN	1072	D	G	Polymorphism	-
P56715	RP1_HUMAN	727	C	W	Polymorphism	-
P56715	RP1_HUMAN	900	K	N	Disease	Retinitis pigmentosa 1 (RP1) [MIM:180100]
P56715	RP1_HUMAN	202	D	E	Disease	Retinitis pigmentosa 1 (RP1) [MIM:180100]
P56715	RP1_HUMAN	172	L	R	Disease	Retinitis pigmentosa 1 (RP1) [MIM:180100]
P56715	RP1_HUMAN	985	N	Y	Polymorphism	-
P56715	RP1_HUMAN	1417	L	P	Polymorphism	-
P56715	RP1_HUMAN	218	A	T	Polymorphism	-
P56715	RP1_HUMAN	1652	R	L	Unclassified	Retinitis pigmentosa 1 (RP1) [MIM:180100]
P56715	RP1_HUMAN	1670	A	T	Polymorphism	-
P56715	RP1_HUMAN	872	R	H	Polymorphism	-
P56715	RP1_HUMAN	1691	S	P	Polymorphism	-
P56715	RP1_HUMAN	706	G	R	Polymorphism	-
P56715	RP1_HUMAN	1808	L	P	Unclassified	Retinitis pigmentosa 1 (RP1) [MIM:180100]
P56715	RP1_HUMAN	2066	D	N	Polymorphism	-
P56715	RP1_HUMAN	945	V	L	Polymorphism	-
P56715	RP1_HUMAN	168	R	G	Polymorphism	-
P56715	RP1_HUMAN	669	A	T	Disease	Retinitis pigmentosa 1 (RP1) [MIM:180100]
P56715	RP1_HUMAN	1425	L	P	Polymorphism	-
P56715	RP1_HUMAN	1935	F	L	Polymorphism	-
P56715	RP1_HUMAN	1370	K	E	Unclassified	Retinitis pigmentosa 1 (RP1) [MIM:180100]
P56715	RP1_HUMAN	752	T	M	Polymorphism	-
P56715	RP1_HUMAN	984	D	G	Disease	Retinitis pigmentosa 1 (RP1) [MIM:180100]
P56715	RP1_HUMAN	2113	T	N	Disease	Retinitis pigmentosa 1 (RP1) [MIM:180100]
P56715	RP1_HUMAN	376	R	L	Polymorphism	-
P56715	RP1_HUMAN	2033	C	Y	Polymorphism	-
P56730	NETR_HUMAN	833	R	Q	Polymorphism	-
P56730	NETR_HUMAN	606	A	S	Polymorphism	-
P56747	CLD6_HUMAN	143	I	V	Polymorphism	-
P56748	CLD8_HUMAN	25	T	A	Polymorphism	-
P56748	CLD8_HUMAN	129	T	A	Polymorphism	-
P56748	CLD8_HUMAN	151	S	P	Polymorphism	-
P56750	CLD17_HUMAN	82	A	T	Polymorphism	-
P56817	BACE1_HUMAN	265	V	A	Polymorphism	-
P56817	BACE1_HUMAN	481	R	C	Polymorphism	-
P56851	EP3B_HUMAN	5	L	V	Polymorphism	-
P56856	CLD18_HUMAN	149	M	L	Polymorphism	-
P56945	BCAR1_HUMAN	558	H	R	Polymorphism	-
P56945	BCAR1_HUMAN	491	R	L	Polymorphism	-
P56945	BCAR1_HUMAN	407	S	T	Unclassified	A breast cancer sample
P56945	BCAR1_HUMAN	76	P	S	Polymorphism	-
P56975	NRG3_HUMAN	552	K	N	Polymorphism	-
P56975	NRG3_HUMAN	472	S	R	Polymorphism	-
P57052	RBM11_HUMAN	116	L	V	Polymorphism	-
P57054	PIGP_HUMAN	25	M	T	Disease	Epileptic encephalopathy, early infantile, 55 (EIEE55) [MIM:617599]
P57054	PIGP_HUMAN	136	R	S	Polymorphism	-
P57054	PIGP_HUMAN	9	T	A	Polymorphism	-
P57054	PIGP_HUMAN	118	Y	C	Polymorphism	-
P57057	G6PT2_HUMAN	414	V	I	Polymorphism	-
P57057	G6PT2_HUMAN	247	D	N	Polymorphism	-
P57058	HUNK_HUMAN	157	R	W	Polymorphism	-
P57058	HUNK_HUMAN	591	R	C	Polymorphism	-
P57058	HUNK_HUMAN	625	E	K	Polymorphism	-
P57058	HUNK_HUMAN	648	M	T	Polymorphism	-
P57059	SIK1_HUMAN	142	D	N	Polymorphism	-
P57059	SIK1_HUMAN	15	G	S	Polymorphism	-
P57059	SIK1_HUMAN	411	S	C	Disease	Epileptic encephalopathy, early infantile, 30 (EIEE30) [MIM:616341]
P57059	SIK1_HUMAN	211	G	S	Unclassified	A glioblastoma multiforme sample
P57059	SIK1_HUMAN	615	A	V	Polymorphism	-
P57059	SIK1_HUMAN	696	P	L	Polymorphism	-
P57059	SIK1_HUMAN	725	A	V	Polymorphism	-
P57059	SIK1_HUMAN	636	G	S	Disease	Epileptic encephalopathy, early infantile, 30 (EIEE30) [MIM:616341]
P57059	SIK1_HUMAN	469	G	D	Unclassified	A metastatic melanoma sample
P57059	SIK1_HUMAN	430	R	W	Polymorphism	-
P57059	SIK1_HUMAN	287	P	T	Disease	Epileptic encephalopathy, early infantile, 30 (EIEE30) [MIM:616341]
P57071	PRD15_HUMAN	1376	T	S	Polymorphism	-
P57071	PRD15_HUMAN	1342	V	I	Polymorphism	-
P57071	PRD15_HUMAN	1481	S	P	Polymorphism	-
P57075	UBS3A_HUMAN	466	D	E	Polymorphism	-
P57075	UBS3A_HUMAN	324	R	Q	Polymorphism	-
P57075	UBS3A_HUMAN	324	R	L	Polymorphism	-
P57075	UBS3A_HUMAN	286	Q	R	Polymorphism	-
P57075	UBS3A_HUMAN	18	S	G	Polymorphism	-
P57075	UBS3A_HUMAN	28	L	F	Polymorphism	-
P57076	CF298_HUMAN	33	R	W	Polymorphism	-
P57076	CF298_HUMAN	173	D	Y	Polymorphism	-
P57076	CF298_HUMAN	141	D	G	Unclassified	Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500]
P57077	M3KCL_HUMAN	112	I	V	Polymorphism	-
P57078	RIPK4_HUMAN	121	I	N	Disease	Bartsocas-Papas syndrome (BPS) [MIM:263650]
P57078	RIPK4_HUMAN	749	P	S	Polymorphism	-
P57078	RIPK4_HUMAN	177	S	N	Polymorphism	-
P57078	RIPK4_HUMAN	463	V	M	Polymorphism	-
P57078	RIPK4_HUMAN	184	T	I	Disease	Bartsocas-Papas syndrome (BPS) [MIM:263650]
P57078	RIPK4_HUMAN	284	E	K	Unclassified	CHAND syndrome (CHANDS) [MIM:214350]
P57078	RIPK4_HUMAN	669	R	H	Polymorphism	-
P57078	RIPK4_HUMAN	81	I	N	Disease	Bartsocas-Papas syndrome (BPS) [MIM:263650]
P57078	RIPK4_HUMAN	12	A	G	Polymorphism	-
P57078	RIPK4_HUMAN	163	G	D	Unclassified	CHAND syndrome (CHANDS) [MIM:214350]
P57078	RIPK4_HUMAN	462	I	N	Polymorphism	-
P57078	RIPK4_HUMAN	562	N	Y	Polymorphism	-
P57081	WDR4_HUMAN	390	R	Q	Polymorphism	-
P57081	WDR4_HUMAN	170	R	Q	Disease	Galloway-Mowat syndrome 6 (GAMOS6) [MIM:618347]
P57081	WDR4_HUMAN	170	R	L	Disease	Microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) [MIM:618346]
P57081	WDR4_HUMAN	266	P	S	Polymorphism	-
P57081	WDR4_HUMAN	164	D	A	Unclassified	Galloway-Mowat syndrome 6 (GAMOS6) [MIM:618347]
P57081	WDR4_HUMAN	71	K	N	Polymorphism	-
P57082	TBX4_HUMAN	35	A	V	Polymorphism	-
P57082	TBX4_HUMAN	248	G	V	Disease	Ischiocoxopodopatellar syndrome (ICPPS) [MIM:147891]
P57082	TBX4_HUMAN	314	A	V	Polymorphism	-
P57082	TBX4_HUMAN	531	Q	R	Disease	Ischiocoxopodopatellar syndrome (ICPPS) [MIM:147891]
P57082	TBX4_HUMAN	282	P	T	Polymorphism	-
P57082	TBX4_HUMAN	6	G	A	Polymorphism	-
P57087	JAM2_HUMAN	286	S	R	Polymorphism	-
P57103	NAC3_HUMAN	612	E	Q	Unclassified	A breast cancer sample
P57105	SYJ2B_HUMAN	9	V	I	Polymorphism	-
P57678	GEMI4_HUMAN	502	I	V	Polymorphism	-
P57678	GEMI4_HUMAN	1033	R	C	Polymorphism	-
P57678	GEMI4_HUMAN	182	F	L	Polymorphism	-
P57678	GEMI4_HUMAN	739	I	T	Polymorphism	-
P57678	GEMI4_HUMAN	782	F	L	Polymorphism	-
P57678	GEMI4_HUMAN	818	W	R	Unclassified	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) [MIM:617913]
P57678	GEMI4_HUMAN	579	A	G	Polymorphism	-
P57678	GEMI4_HUMAN	824	V	F	Polymorphism	-
P57678	GEMI4_HUMAN	684	R	Q	Polymorphism	-
P57678	GEMI4_HUMAN	913	V	I	Polymorphism	-
P57678	GEMI4_HUMAN	749	P	L	Polymorphism	-
P57679	EVC_HUMAN	74	Q	P	Polymorphism	-
P57679	EVC_HUMAN	258	Y	H	Polymorphism	-
P57679	EVC_HUMAN	576	R	Q	Polymorphism	-
P57679	EVC_HUMAN	623	L	P	Disease	Ellis-van Creveld syndrome (EVC) [MIM:225500]
P57679	EVC_HUMAN	953	D	G	Polymorphism	-
P57679	EVC_HUMAN	449	T	K	Polymorphism	-
P57679	EVC_HUMAN	307	S	P	Disease	Acrofacial dysostosis, Weyers type (WAD) [MIM:193530]
P57679	EVC_HUMAN	760	R	Q	Polymorphism	-
P57679	EVC_HUMAN	372	T	M	Polymorphism	-
P57679	EVC_HUMAN	443	R	Q	Disease	Ellis-van Creveld syndrome (EVC) [MIM:225500]
P57679	EVC_HUMAN	206	S	N	Disease	Ellis-van Creveld syndrome (EVC) [MIM:225500]
P57679	EVC_HUMAN	114	A	V	Polymorphism	-
P57679	EVC_HUMAN	403	G	S	Polymorphism	-
P57682	KLF3_HUMAN	207	R	S	Polymorphism	-
P57723	PCBP4_HUMAN	198	G	S	Polymorphism	-
P57727	TMPS3_HUMAN	109	R	W	Disease	Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
P57727	TMPS3_HUMAN	426	A	T	Polymorphism	-
P57727	TMPS3_HUMAN	253	I	V	Polymorphism	-
P57727	TMPS3_HUMAN	251	W	C	Disease	Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
P57727	TMPS3_HUMAN	103	D	G	Disease	Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
P57727	TMPS3_HUMAN	53	V	I	Polymorphism	-
P57727	TMPS3_HUMAN	194	C	F	Disease	Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
P57727	TMPS3_HUMAN	216	R	L	Disease	Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
P57727	TMPS3_HUMAN	173	D	N	Polymorphism	-
P57727	TMPS3_HUMAN	111	G	S	Polymorphism	-
P57727	TMPS3_HUMAN	407	C	R	Disease	Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
P57727	TMPS3_HUMAN	404	P	L	Disease	Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
P57729	RAB38_HUMAN	111	K	T	Unclassified	A colorectal cancer sample
P57737	CORO7_HUMAN	403	A	T	Polymorphism	-
P57737	CORO7_HUMAN	193	R	Q	Polymorphism	-
P57737	CORO7_HUMAN	174	A	V	Polymorphism	-
P57737	CORO7_HUMAN	257	L	S	Polymorphism	-
P57740	NU107_HUMAN	101	M	I	Disease	Nephrotic syndrome 11 (NPHS11) [MIM:616730]
P57740	NU107_HUMAN	889	Y	C	Disease	Nephrotic syndrome 11 (NPHS11) [MIM:616730]
P57740	NU107_HUMAN	447	D	N	Disease	Ovarian dysgenesis 6 (ODG6) [MIM:618078]
P57740	NU107_HUMAN	831	D	A	Disease	Nephrotic syndrome 11 (NPHS11) [MIM:616730]
P57740	NU107_HUMAN	157	D	Y	Disease	Nephrotic syndrome 11 (NPHS11) [MIM:616730]
P57768	SNX16_HUMAN	98	P	L	Polymorphism	-
P57772	SELB_HUMAN	435	A	V	Polymorphism	-
P57773	CXA9_HUMAN	497	V	I	Polymorphism	-
P57789	KCNKA_HUMAN	512	A	T	Polymorphism	-
P57789	KCNKA_HUMAN	70	K	Q	Polymorphism	-
P57796	CABP4_HUMAN	124	R	C	Disease	Cone-rod synaptic disorder, congenital non-progressive (CRSD) [MIM:610427]
P58004	SESN2_HUMAN	320	T	A	Polymorphism	-
P58005	SESN3_HUMAN	71	R	C	Polymorphism	-
P58005	SESN3_HUMAN	227	I	T	Polymorphism	-
P58012	FOXL2_HUMAN	105	N	S	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	179	A	G	Polymorphism	-
P58012	FOXL2_HUMAN	193	K	R	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	69	E	K	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	109	N	K	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	103	R	C	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	58	S	L	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	106	L	F	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	90	F	S	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	80	I	T	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	104	H	R	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	84	I	S	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	84	I	N	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	285	P	S	Polymorphism	-
P58012	FOXL2_HUMAN	258	Y	N	Disease	Premature ovarian failure 3 (POF3) [MIM:608996]
P58012	FOXL2_HUMAN	65	M	V	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	215	Y	C	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	66	A	V	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	106	L	P	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	101	S	R	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	349	R	G	Polymorphism	-
P58012	FOXL2_HUMAN	217	S	F	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	108	L	P	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	217	S	C	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	98	W	R	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	98	W	G	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	63	I	T	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	102	I	T	Disease	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P58012	FOXL2_HUMAN	134	C	W	Unclassified	Granulosa-cell tumors of the ovary
P58012	FOXL2_HUMAN	187	G	D	Disease	Premature ovarian failure 3 (POF3) [MIM:608996]
P58107	EPIPL_HUMAN	1094	S	N	Unclassified	-
P58166	INHBE_HUMAN	62	R	T	Unclassified	A breast cancer sample
P58166	INHBE_HUMAN	215	Q	H	Unclassified	A breast cancer sample
P58173	OR2B6_HUMAN	117	V	I	Polymorphism	-
P58173	OR2B6_HUMAN	270	Q	R	Polymorphism	-
P58180	OR4D2_HUMAN	29	L	I	Polymorphism	-
P58181	O10A3_HUMAN	20	F	V	Polymorphism	-
P58182	O12D2_HUMAN	47	V	F	Polymorphism	-
P58182	O12D2_HUMAN	56	L	P	Polymorphism	-
P58182	O12D2_HUMAN	121	S	C	Polymorphism	-
P58182	O12D2_HUMAN	159	V	I	Polymorphism	-
P58182	O12D2_HUMAN	104	S	F	Polymorphism	-
P58182	O12D2_HUMAN	113	F	L	Polymorphism	-
P58182	O12D2_HUMAN	132	V	G	Polymorphism	-
P58182	O12D2_HUMAN	120	L	R	Polymorphism	-
P58215	LOXL3_HUMAN	615	I	F	Polymorphism	-
P58215	LOXL3_HUMAN	676	C	Y	Unclassified	-
P58294	PROK1_HUMAN	67	V	I	Polymorphism	-
P58304	VSX2_HUMAN	200	R	P	Disease	Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]
P58304	VSX2_HUMAN	223	G	R	Disease	Microphthalmia, isolated, with coloboma, 3 (MCOPCB3) [MIM:610092]
P58304	VSX2_HUMAN	200	R	Q	Disease	Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]
P58304	VSX2_HUMAN	223	G	A	Disease	Microphthalmia, isolated, 2 (MCOP2) [MIM:610093]
P58304	VSX2_HUMAN	100	P	Q	Polymorphism	-
P58304	VSX2_HUMAN	227	R	W	Disease	Microphthalmia, isolated, 2 (MCOP2) [MIM:610093]
P58335	ANTR2_HUMAN	105	G	D	Disease	Hyaline fibromatosis syndrome (HFS) [MIM:228600]
P58335	ANTR2_HUMAN	189	I	T	Disease	Hyaline fibromatosis syndrome (HFS) [MIM:228600]
P58335	ANTR2_HUMAN	357	A	P	Polymorphism	-
P58335	ANTR2_HUMAN	329	L	R	Disease	Hyaline fibromatosis syndrome (HFS) [MIM:228600]
P58335	ANTR2_HUMAN	218	C	R	Disease	Hyaline fibromatosis syndrome (HFS) [MIM:228600]
P58335	ANTR2_HUMAN	45	L	P	Disease	Hyaline fibromatosis syndrome (HFS) [MIM:228600]
P58335	ANTR2_HUMAN	381	Y	C	Disease	Hyaline fibromatosis syndrome (HFS) [MIM:228600]
P58340	MLF1_HUMAN	226	P	T	Polymorphism	-
P58397	ATS12_HUMAN	1495	T	I	Polymorphism	-
P58397	ATS12_HUMAN	1177	W	R	Polymorphism	-
P58397	ATS12_HUMAN	110	Q	E	Polymorphism	-
P58397	ATS12_HUMAN	1591	S	P	Polymorphism	-
P58397	ATS12_HUMAN	1000	R	Q	Polymorphism	-
P58418	CLRN1_HUMAN	150	L	P	Disease	Usher syndrome 3A (USH3A) [MIM:276902]
P58418	CLRN1_HUMAN	120	M	K	Disease	Usher syndrome 3A (USH3A) [MIM:276902]
P58418	CLRN1_HUMAN	48	N	K	Disease	Usher syndrome 3A (USH3A) [MIM:276902]
P58418	CLRN1_HUMAN	31	P	L	Disease	Retinitis pigmentosa 61 (RP61) [MIM:614180]
P58418	CLRN1_HUMAN	40	C	G	Disease	Usher syndrome 3A (USH3A) [MIM:276902]
P58418	CLRN1_HUMAN	168	I	N	Disease	Usher syndrome 3A (USH3A) [MIM:276902]
P58418	CLRN1_HUMAN	7	K	I	Polymorphism	-
P58418	CLRN1_HUMAN	154	L	W	Disease	Retinitis pigmentosa 61 (RP61) [MIM:614180]
P58418	CLRN1_HUMAN	105	S	P	Disease	Usher syndrome 3A (USH3A) [MIM:276902]
P58499	FAM3B_HUMAN	14	V	M	Polymorphism	-
P58511	SI11A_HUMAN	51	K	R	Polymorphism	-
P58753	TIRAP_HUMAN	13	R	W	Polymorphism	-
P58753	TIRAP_HUMAN	96	D	N	Polymorphism	-
P58753	TIRAP_HUMAN	197	V	I	Polymorphism	-
P58753	TIRAP_HUMAN	55	S	N	Polymorphism	-
P58753	TIRAP_HUMAN	180	S	L	Polymorphism	-
P58753	TIRAP_HUMAN	9	A	P	Polymorphism	-
P58872	RHBL3_HUMAN	255	V	M	Polymorphism	-
P59020	DSCR9_HUMAN	23	G	V	Polymorphism	-
P59020	DSCR9_HUMAN	76	R	L	Polymorphism	-
P59025	RTP1_HUMAN	229	Q	E	Polymorphism	-
P59025	RTP1_HUMAN	124	R	S	Unclassified	A breast cancer sample
P59025	RTP1_HUMAN	212	A	G	Polymorphism	-
P59044	NLRP6_HUMAN	361	Y	F	Polymorphism	-
P59044	NLRP6_HUMAN	713	A	V	Polymorphism	-
P59044	NLRP6_HUMAN	163	M	L	Polymorphism	-
P59045	NAL11_HUMAN	233	N	D	Polymorphism	-
P59045	NAL11_HUMAN	438	P	L	Polymorphism	-
P59045	NAL11_HUMAN	188	A	S	Polymorphism	-
P59046	NAL12_HUMAN	39	G	V	Polymorphism	-
P59046	NAL12_HUMAN	402	F	L	Polymorphism	-
P59047	NALP5_HUMAN	1195	R	Q	Polymorphism	-
P59047	NALP5_HUMAN	459	M	I	Polymorphism	-
P59047	NALP5_HUMAN	1097	A	T	Polymorphism	-
P59047	NALP5_HUMAN	761	R	L	Polymorphism	-
P59047	NALP5_HUMAN	1108	S	C	Polymorphism	-
P59047	NALP5_HUMAN	912	M	T	Polymorphism	-
P59047	NALP5_HUMAN	584	H	P	Polymorphism	-
P59047	NALP5_HUMAN	1181	V	I	Polymorphism	-
P59095	STAR6_HUMAN	159	E	K	Polymorphism	-
P59103	DAOA_HUMAN	62	K	E	Polymorphism	-
P59103	DAOA_HUMAN	30	R	K	Polymorphism	-
P59282	TPPP2_HUMAN	133	R	L	Polymorphism	-
P59510	ATS20_HUMAN	1000	R	H	Polymorphism	-
P59510	ATS20_HUMAN	876	K	M	Polymorphism	-
P59510	ATS20_HUMAN	1273	S	F	Polymorphism	-
P59533	T2R38_HUMAN	49	A	P	Polymorphism	-
P59533	T2R38_HUMAN	296	I	V	Polymorphism	-
P59533	T2R38_HUMAN	262	A	V	Polymorphism	-
P59534	T2R39_HUMAN	193	S	F	Polymorphism	-
P59534	T2R39_HUMAN	197	K	E	Polymorphism	-
P59535	T2R40_HUMAN	187	S	Y	Polymorphism	-
P59535	T2R40_HUMAN	23	V	L	Polymorphism	-
P59536	T2R41_HUMAN	127	P	L	Polymorphism	-
P59538	T2R31_HUMAN	276	P	R	Polymorphism	-
P59538	T2R31_HUMAN	217	Q	E	Polymorphism	-
P59538	T2R31_HUMAN	227	A	V	Polymorphism	-
P59538	T2R31_HUMAN	162	L	M	Polymorphism	-
P59538	T2R31_HUMAN	240	V	I	Polymorphism	-
P59538	T2R31_HUMAN	35	R	W	Polymorphism	-
P59540	T2R46_HUMAN	228	L	M	Polymorphism	-
P59541	T2R30_HUMAN	252	F	L	Polymorphism	-
P59542	T2R19_HUMAN	126	K	Q	Polymorphism	-
P59542	T2R19_HUMAN	299	R	C	Polymorphism	-
P59543	T2R20_HUMAN	148	H	N	Polymorphism	-
P59543	T2R20_HUMAN	143	H	Q	Polymorphism	-
P59543	T2R20_HUMAN	255	R	L	Polymorphism	-
P59543	T2R20_HUMAN	252	F	S	Polymorphism	-
P59543	T2R20_HUMAN	79	K	E	Polymorphism	-
P59543	T2R20_HUMAN	236	I	V	Polymorphism	-
P59544	T2R50_HUMAN	203	C	Y	Polymorphism	-
P59796	GPX6_HUMAN	157	P	S	Polymorphism	-
P59796	GPX6_HUMAN	13	F	L	Polymorphism	-
P59796	GPX6_HUMAN	140	V	M	Polymorphism	-
P59796	GPX6_HUMAN	6	Q	L	Polymorphism	-
P59796	GPX6_HUMAN	72	Y	N	Polymorphism	-
P59796	GPX6_HUMAN	136	E	D	Polymorphism	-
P59796	GPX6_HUMAN	161	D	G	Polymorphism	-
P59796	GPX6_HUMAN	58	Q	H	Polymorphism	-
P59796	GPX6_HUMAN	53	Y	H	Polymorphism	-
P59796	GPX6_HUMAN	188	V	A	Polymorphism	-
P59797	SELV_HUMAN	284	K	R	Polymorphism	-
P59817	Z280A_HUMAN	486	F	L	Polymorphism	-
P59817	Z280A_HUMAN	276	L	F	Polymorphism	-
P59817	Z280A_HUMAN	249	G	A	Polymorphism	-
P59817	Z280A_HUMAN	71	K	N	Polymorphism	-
P59817	Z280A_HUMAN	278	N	D	Polymorphism	-
P59817	Z280A_HUMAN	136	N	S	Polymorphism	-
P59817	Z280A_HUMAN	137	Y	S	Polymorphism	-
P59817	Z280A_HUMAN	246	N	S	Polymorphism	-
P59817	Z280A_HUMAN	488	R	S	Polymorphism	-
P59826	BPIB3_HUMAN	369	Y	C	Polymorphism	-
P59826	BPIB3_HUMAN	334	H	Q	Polymorphism	-
P59826	BPIB3_HUMAN	449	P	S	Polymorphism	-
P59826	BPIB3_HUMAN	290	T	M	Polymorphism	-
P59826	BPIB3_HUMAN	228	V	M	Polymorphism	-
P59827	BPIB4_HUMAN	533	T	I	Polymorphism	-
P59827	BPIB4_HUMAN	527	F	L	Polymorphism	-
P59827	BPIB4_HUMAN	199	D	G	Polymorphism	-
P59827	BPIB4_HUMAN	206	G	W	Polymorphism	-
P59827	BPIB4_HUMAN	167	G	W	Polymorphism	-
P59827	BPIB4_HUMAN	229	I	V	Polymorphism	-
P59827	BPIB4_HUMAN	268	I	V	Polymorphism	-
P59827	BPIB4_HUMAN	320	N	T	Polymorphism	-
P59901	LIRA4_HUMAN	27	P	L	Polymorphism	-
P59901	LIRA4_HUMAN	155	I	V	Polymorphism	-
P59910	DJB13_HUMAN	278	M	R	Disease	Ciliary dyskinesia, primary, 34 (CILD34) [MIM:617091]
P59923	ZN445_HUMAN	428	Y	C	Polymorphism	-
P59942	MCCD1_HUMAN	45	S	N	Polymorphism	-
P59942	MCCD1_HUMAN	53	T	M	Polymorphism	-
P59942	MCCD1_HUMAN	42	E	K	Polymorphism	-
P59991	KR122_HUMAN	16	A	T	Polymorphism	-
P59991	KR122_HUMAN	29	S	P	Polymorphism	-
P59991	KR122_HUMAN	16	A	V	Polymorphism	-
P59991	KR122_HUMAN	29	S	C	Polymorphism	-
P59991	KR122_HUMAN	116	A	V	Polymorphism	-
P59991	KR122_HUMAN	143	S	P	Polymorphism	-
P60014	KR10A_HUMAN	86	T	S	Polymorphism	-
P60014	KR10A_HUMAN	116	V	M	Polymorphism	-
P60014	KR10A_HUMAN	72	T	P	Polymorphism	-
P60014	KR10A_HUMAN	126	C	S	Polymorphism	-
P60014	KR10A_HUMAN	158	V	M	Polymorphism	-
P60014	KR10A_HUMAN	129	Q	P	Polymorphism	-
P60014	KR10A_HUMAN	20	V	D	Polymorphism	-
P60022	DEFB1_HUMAN	48	A	V	Polymorphism	-
P60022	DEFB1_HUMAN	38	V	I	Polymorphism	-
P60022	DEFB1_HUMAN	67	C	S	Polymorphism	-
P60153	RNAS9_HUMAN	204	S	P	Polymorphism	-
P60153	RNAS9_HUMAN	148	F	S	Polymorphism	-
P60174	TPIS_HUMAN	110	G	A	Disease	Triosephosphate isomerase deficiency (TPID) [MIM:615512]
P60174	TPIS_HUMAN	160	G	R	Polymorphism	-
P60174	TPIS_HUMAN	142	E	D	Disease	Triosephosphate isomerase deficiency (TPID) [MIM:615512]
P60174	TPIS_HUMAN	79	C	Y	Disease	Triosephosphate isomerase deficiency (TPID) [MIM:615512]
P60174	TPIS_HUMAN	192	V	M	Disease	Triosephosphate isomerase deficiency (TPID) [MIM:615512]
P60174	TPIS_HUMAN	278	F	L	Disease	Triosephosphate isomerase deficiency (TPID) [MIM:615512]
P60174	TPIS_HUMAN	269	V	M	Disease	Triosephosphate isomerase deficiency (TPID) [MIM:615512]
P60174	TPIS_HUMAN	208	I	V	Disease	Triosephosphate isomerase deficiency (TPID) [MIM:615512]
P60201	MYPR_HUMAN	247	A	T	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	15	P	L	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	60	Y	C	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	203	D	E	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	166	V	E	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	175	Y	C	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	203	D	H	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	137	R	W	Disease	Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
P60201	MYPR_HUMAN	35	C	Y	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	243	A	V	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	225	L	P	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	217	G	S	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	74	G	R	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	203	D	G	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	169	C	R	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	76	A	P	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	116	T	K	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	242	A	P	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	183	T	N	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	166	V	G	Disease	-
P60201	MYPR_HUMAN	140	H	Y	Disease	Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
P60201	MYPR_HUMAN	46	L	R	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	207	Y	C	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	210	L	H	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	211	P	L	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	32	F	L	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	156	T	I	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	216	P	A	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	203	D	V	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	220	C	Y	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	173	P	S	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	163	W	R	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	253	S	F	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	237	F	S	Disease	Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
P60201	MYPR_HUMAN	33	C	Y	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	239	L	P	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	216	P	L	Disease	Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
P60201	MYPR_HUMAN	203	D	N	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	39	A	T	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	181	W	C	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	246	G	A	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	151	K	N	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	224	L	I	Disease	-
P60201	MYPR_HUMAN	212	W	R	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	243	A	E	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	226	S	P	Disease	Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
P60201	MYPR_HUMAN	219	V	F	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	205	R	G	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	51	F	S	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	46	L	P	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	43	T	I	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	148	H	Y	Disease	Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
P60201	MYPR_HUMAN	221	G	C	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	32	F	V	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	187	I	T	Disease	Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
P60201	MYPR_HUMAN	130	H	Y	Disease	Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
P60201	MYPR_HUMAN	216	P	S	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	224	L	P	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	31	L	P	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	30	A	P	Disease	Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
P60201	MYPR_HUMAN	249	A	P	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	172	V	A	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	246	G	E	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	170	S	P	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	170	S	F	Disease	Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
P60201	MYPR_HUMAN	182	T	P	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	35	C	R	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	50	Y	C	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	148	H	Y	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	228	C	Y	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	234	Q	P	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	162	V	E	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	248	A	E	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60201	MYPR_HUMAN	209	V	D	Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]
P60228	EIF3E_HUMAN	185	A	V	Polymorphism	-
P60321	NANO2_HUMAN	68	H	Q	Polymorphism	-
P60328	KR123_HUMAN	17	H	R	Polymorphism	-
P60331	KR101_HUMAN	280	P	L	Polymorphism	-
P60331	KR101_HUMAN	39	P	L	Polymorphism	-
P60331	KR101_HUMAN	101	V	M	Polymorphism	-
P60331	KR101_HUMAN	241	R	Q	Polymorphism	-
P60368	KR102_HUMAN	107	P	T	Polymorphism	-
P60368	KR102_HUMAN	241	R	G	Polymorphism	-
P60368	KR102_HUMAN	15	N	D	Polymorphism	-
P60368	KR102_HUMAN	177	P	L	Polymorphism	-
P60368	KR102_HUMAN	117	A	P	Polymorphism	-
P60369	KR103_HUMAN	3	T	A	Polymorphism	-
P60369	KR103_HUMAN	170	C	Y	Polymorphism	-
P60370	KR105_HUMAN	4	C	S	Polymorphism	-
P60370	KR105_HUMAN	268	R	P	Polymorphism	-
P60370	KR105_HUMAN	20	D	N	Polymorphism	-
P60370	KR105_HUMAN	247	Y	C	Polymorphism	-
P60370	KR105_HUMAN	235	V	L	Polymorphism	-
P60370	KR105_HUMAN	183	F	C	Polymorphism	-
P60371	KR106_HUMAN	300	P	S	Polymorphism	-
P60371	KR106_HUMAN	68	C	S	Polymorphism	-
P60371	KR106_HUMAN	74	P	S	Polymorphism	-
P60371	KR106_HUMAN	159	V	I	Polymorphism	-
P60372	KR104_HUMAN	159	I	V	Polymorphism	-
P60372	KR104_HUMAN	62	R	C	Polymorphism	-
P60372	KR104_HUMAN	285	G	C	Polymorphism	-
P60409	KR107_HUMAN	111	V	M	Polymorphism	-
P60409	KR107_HUMAN	320	A	T	Polymorphism	-
P60409	KR107_HUMAN	124	Y	C	Polymorphism	-
P60409	KR107_HUMAN	215	K	Q	Polymorphism	-
P60409	KR107_HUMAN	285	T	S	Polymorphism	-
P60410	KR108_HUMAN	64	S	N	Unclassified	A colorectal cancer sample
P60410	KR108_HUMAN	159	S	F	Unclassified	A breast cancer sample
P60410	KR108_HUMAN	26	H	R	Polymorphism	-
P60411	KR109_HUMAN	257	R	C	Polymorphism	-
P60411	KR109_HUMAN	182	Y	C	Polymorphism	-
P60412	KR10B_HUMAN	130	S	F	Polymorphism	-
P60413	KR10C_HUMAN	146	P	Q	Polymorphism	-
P60413	KR10C_HUMAN	226	G	S	Polymorphism	-
P60484	PTEN_HUMAN	129	G	R	Unclassified	Glioblastoma
P60484	PTEN_HUMAN	105	C	Y	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	70	L	P	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	34	A	D	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	124	C	S	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	165	G	E	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	167	T	N	Disease	Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309]
P60484	PTEN_HUMAN	130	R	Q	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	130	R	L	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	135	I	V	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	16	Y	C	Unclassified	-
P60484	PTEN_HUMAN	105	C	F	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	42	L	R	Unclassified	Glioma
P60484	PTEN_HUMAN	36	G	E	Unclassified	Glioma
P60484	PTEN_HUMAN	123	H	Y	Disease	Endometrial cancer (ENDMC) [MIM:608089]
P60484	PTEN_HUMAN	331	D	G	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	36	G	R	Polymorphism	-
P60484	PTEN_HUMAN	132	G	V	Unclassified	One patient with clinical findings suggesting hamartoma tumor syndrome
P60484	PTEN_HUMAN	217	V	I	Unclassified	Malignant melanoma
P60484	PTEN_HUMAN	345	L	Q	Unclassified	Glioblastoma
P60484	PTEN_HUMAN	15	R	S	Unclassified	Glioma
P60484	PTEN_HUMAN	121	A	P	Unclassified	Glioblastoma
P60484	PTEN_HUMAN	107	D	Y	Unclassified	Glioblastoma
P60484	PTEN_HUMAN	155	Y	C	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	93	H	R	Disease	Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309]
P60484	PTEN_HUMAN	27	Y	S	Polymorphism	-
P60484	PTEN_HUMAN	289	K	E	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	401	T	I	Unclassified	-
P60484	PTEN_HUMAN	112	L	R	Unclassified	-
P60484	PTEN_HUMAN	343	V	E	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	107	D	Y	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	251	G	C	Unclassified	-
P60484	PTEN_HUMAN	57	L	W	Unclassified	Glioma
P60484	PTEN_HUMAN	165	G	R	Unclassified	Glioblastoma
P60484	PTEN_HUMAN	234	R	Q	Disease	Glioma 2 (GLM2) [MIM:613028]
P60484	PTEN_HUMAN	170	S	N	Unclassified	-
P60484	PTEN_HUMAN	191	V	A	Unclassified	-
P60484	PTEN_HUMAN	170	S	R	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	165	G	V	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	227	S	F	Polymorphism	-
P60484	PTEN_HUMAN	35	M	R	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	136	C	Y	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	121	A	G	Disease	Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]
P60484	PTEN_HUMAN	129	G	E	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	167	T	P	Unclassified	Breast cancer
P60484	PTEN_HUMAN	20	G	E	Polymorphism	-
P60484	PTEN_HUMAN	173	R	C	Polymorphism	-
P60484	PTEN_HUMAN	133	V	I	Unclassified	-
P60484	PTEN_HUMAN	341	F	V	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	71	C	Y	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	126	A	G	Unclassified	A patient with prostate cancer
P60484	PTEN_HUMAN	134	M	L	Disease	Prostate cancer (PC) [MIM:176807]
P60484	PTEN_HUMAN	173	R	H	Polymorphism	-
P60484	PTEN_HUMAN	124	C	R	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	61	H	D	Unclassified	-
P60484	PTEN_HUMAN	119	V	L	Unclassified	Multiple cancers
P60484	PTEN_HUMAN	173	R	P	Polymorphism	-
P60484	PTEN_HUMAN	67	I	R	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	174	Y	N	Polymorphism	-
P60484	PTEN_HUMAN	130	R	G	Polymorphism	-
P60484	PTEN_HUMAN	241	F	S	Disease	Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309]
P60484	PTEN_HUMAN	10	S	N	Unclassified	-
P60484	PTEN_HUMAN	348	T	I	Unclassified	-
P60484	PTEN_HUMAN	61	H	R	Polymorphism	-
P60484	PTEN_HUMAN	47	R	G	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	112	L	P	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	131	T	I	Disease	Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309]
P60484	PTEN_HUMAN	342	K	N	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	158	V	L	Unclassified	Multiple cancers
P60484	PTEN_HUMAN	252	D	G	Disease	Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309]
P60484	PTEN_HUMAN	123	H	R	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	68	Y	H	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	246	P	L	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	19	D	N	Unclassified	Malignant melanoma
P60484	PTEN_HUMAN	93	H	Y	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	347	F	L	Disease	Cowden syndrome 1 (CWS1) [MIM:158350]
P60484	PTEN_HUMAN	290	V	L	Polymorphism	-
P60484	PTEN_HUMAN	112	L	P	Disease	Lhermitte-Duclos disease (LDD) [MIM:158350]
P60484	PTEN_HUMAN	369	V	G	Unclassified	-
P60520	GBRL2_HUMAN	51	V	A	Polymorphism	-
P60602	ROMO1_HUMAN	28	A	P	Polymorphism	-
P60660	MYL6_HUMAN	103	T	P	Polymorphism	-
P60660	MYL6_HUMAN	85	T	I	Polymorphism	-
P60709	ACTB_HUMAN	196	R	H	Disease	Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
P60709	ACTB_HUMAN	12	N	D	Disease	Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
P60709	ACTB_HUMAN	183	R	W	Disease	Dystonia, juvenile-onset (DJO) [MIM:607371]
P60709	ACTB_HUMAN	196	R	C	Disease	Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
P60709	ACTB_HUMAN	65	L	V	Disease	Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
P60709	ACTB_HUMAN	243	P	L	Polymorphism	-
P60852	ZP1_HUMAN	158	T	I	Polymorphism	-
P60880	SNP25_HUMAN	67	I	N	Disease	Myasthenic syndrome, congenital, 18 (CMS18) [MIM:616330]
P60891	PRPS1_HUMAN	306	G	R	Disease	Deafness, X-linked, 1 (DFNX1) [MIM:304500]
P60891	PRPS1_HUMAN	203	D	H	Unclassified	A breast cancer sample
P60891	PRPS1_HUMAN	290	I	T	Disease	Deafness, X-linked, 1 (DFNX1) [MIM:304500]
P60891	PRPS1_HUMAN	142	V	L	Disease	-
P60891	PRPS1_HUMAN	152	L	P	Disease	ARTS syndrome (ARTS) [MIM:301835]
P60891	PRPS1_HUMAN	115	M	T	Disease	Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070]
P60891	PRPS1_HUMAN	114	N	S	Disease	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
P60891	PRPS1_HUMAN	190	A	V	Disease	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
P60891	PRPS1_HUMAN	16	S	P	Disease	-
P60891	PRPS1_HUMAN	219	V	G	Unclassified	A breast cancer sample
P60891	PRPS1_HUMAN	52	D	H	Disease	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
P60891	PRPS1_HUMAN	43	E	D	Disease	Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070]
P60891	PRPS1_HUMAN	193	H	Q	Disease	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
P60891	PRPS1_HUMAN	133	Q	P	Disease	ARTS syndrome (ARTS) [MIM:301835]
P60891	PRPS1_HUMAN	87	A	T	Disease	Deafness, X-linked, 1 (DFNX1) [MIM:304500]
P60891	PRPS1_HUMAN	129	L	I	Disease	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
P60891	PRPS1_HUMAN	183	D	H	Disease	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
P60891	PRPS1_HUMAN	231	H	D	Unclassified	A colorectal cancer sample
P60891	PRPS1_HUMAN	65	D	N	Disease	Deafness, X-linked, 1 (DFNX1) [MIM:304500]
P60893	GPR85_HUMAN	221	V	L	Unclassified	-
P60893	GPR85_HUMAN	152	M	T	Unclassified	-
P60896	SEM1_HUMAN	17	D	G	Polymorphism	-
P60953	CDC42_HUMAN	64	Y	C	Disease	Takenouchi-Kosaki syndrome (TKS) [MIM:616737]
P60981	DEST_HUMAN	139	G	E	Unclassified	A colorectal cancer sample
P61106	RAB14_HUMAN	4	A	T	Polymorphism	-
P61218	RPAB2_HUMAN	60	Y	N	Unclassified	A breast cancer sample
P61221	ABCE1_HUMAN	489	S	C	Polymorphism	-
P61244	MAX_HUMAN	94	L	P	Disease	Pheochromocytoma (PCC) [MIM:171300]
P61244	MAX_HUMAN	60	R	W	Disease	Pheochromocytoma (PCC) [MIM:171300]
P61244	MAX_HUMAN	25	R	W	Disease	Pheochromocytoma (PCC) [MIM:171300]
P61244	MAX_HUMAN	74	M	V	Disease	Pheochromocytoma (PCC) [MIM:171300]
P61244	MAX_HUMAN	102	L	P	Disease	Pheochromocytoma (PCC) [MIM:171300]
P61244	MAX_HUMAN	71	I	S	Disease	Pheochromocytoma (PCC) [MIM:171300]
P61244	MAX_HUMAN	23	D	N	Unclassified	Pheochromocytoma (PCC) [MIM:171300]
P61244	MAX_HUMAN	9	V	L	Disease	Pheochromocytoma (PCC) [MIM:171300]
P61244	MAX_HUMAN	35	R	C	Disease	Pheochromocytoma (PCC) [MIM:171300]
P61244	MAX_HUMAN	142	S	L	Polymorphism	-
P61244	MAX_HUMAN	90	R	P	Disease	Pheochromocytoma (PCC) [MIM:171300]
P61244	MAX_HUMAN	114	N	T	Polymorphism	-
P61266	STX1B_HUMAN	216	V	E	Disease	Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172]
P61266	STX1B_HUMAN	226	G	R	Disease	Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172]
P61278	SMS_HUMAN	11	A	V	Polymorphism	-
P61278	SMS_HUMAN	61	N	T	Polymorphism	-
P61328	FGF12_HUMAN	114	R	H	Disease	Epileptic encephalopathy, early infantile, 47 (EIEE47) [MIM:617166]
P61457	PHS_HUMAN	88	R	Q	Disease	Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070]
P61457	PHS_HUMAN	97	E	K	Disease	Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070]
P61457	PHS_HUMAN	82	C	R	Disease	Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070]
P61457	PHS_HUMAN	79	T	I	Polymorphism	-
P61619	S61A1_HUMAN	67	V	G	Disease	Familial juvenile hyperuricemic nephropathy 4 (HNFJ4) [MIM:617056]
P61619	S61A1_HUMAN	185	T	A	Disease	Familial juvenile hyperuricemic nephropathy 4 (HNFJ4) [MIM:617056]
P61619	S61A1_HUMAN	85	V	D	Disease	-
P61626	LYSC_HUMAN	85	D	H	Disease	Amyloidosis 8 (AMYL8) [MIM:105200]
P61626	LYSC_HUMAN	74	I	T	Disease	Amyloidosis 8 (AMYL8) [MIM:105200]
P61626	LYSC_HUMAN	88	T	N	Polymorphism	-
P61758	PFD3_HUMAN	123	V	M	Polymorphism	-
P61764	STXB1_HUMAN	281	L	P	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	574	T	P	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	190	R	W	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	42	S	F	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	544	G	C	Unclassified	-
P61764	STXB1_HUMAN	354	C	R	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	80	S	P	Disease	-
P61764	STXB1_HUMAN	183	L	R	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	285	D	Y	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	180	C	Y	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	570	T	A	Disease	-
P61764	STXB1_HUMAN	406	R	C	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	84	V	D	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	431	Q	L	Polymorphism	-
P61764	STXB1_HUMAN	443	M	R	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	480	P	L	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	292	R	H	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	251	A	T	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	544	G	D	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	406	R	H	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	283	E	K	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	445	H	P	Disease	Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]
P61764	STXB1_HUMAN	84	V	I	Polymorphism	-
P61769	B2MG_HUMAN	11	A	P	Disease	Immunodeficiency 43 (IMD43) [MIM:241600]
P61769	B2MG_HUMAN	96	D	N	Disease	Amyloidosis 8 (AMYL8) [MIM:105200]
P61803	DAD1_HUMAN	83	A	T	Polymorphism	-
P61812	TGFB2_HUMAN	302	R	C	Disease	Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]
P61812	TGFB2_HUMAN	207	V	L	Polymorphism	-
P61812	TGFB2_HUMAN	91	R	H	Polymorphism	-
P61812	TGFB2_HUMAN	299	R	W	Disease	Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]
P61812	TGFB2_HUMAN	338	P	H	Disease	Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]
P61812	TGFB2_HUMAN	320	R	C	Disease	-
P61916	NPC2_HUMAN	99	C	R	Disease	Niemann-Pick disease C2 (NPC2) [MIM:607625]
P61916	NPC2_HUMAN	93	C	F	Disease	Niemann-Pick disease C2 (NPC2) [MIM:607625]
P61916	NPC2_HUMAN	39	V	M	Disease	Niemann-Pick disease C2 (NPC2) [MIM:607625]
P61916	NPC2_HUMAN	47	C	F	Disease	Niemann-Pick disease C2 (NPC2) [MIM:607625]
P61916	NPC2_HUMAN	67	S	P	Disease	Niemann-Pick disease C2 (NPC2) [MIM:607625]
P61916	NPC2_HUMAN	30	V	M	Disease	Niemann-Pick disease C2 (NPC2) [MIM:607625]
P61916	NPC2_HUMAN	120	P	S	Disease	Niemann-Pick disease C2 (NPC2) [MIM:607625]
P61916	NPC2_HUMAN	86	P	L	Polymorphism	-
P61956	SUMO2_HUMAN	16	D	N	Polymorphism	-
P61960	UFM1_HUMAN	81	R	C	Disease	Leukodystrophy, hypomyelinating, 14 (HLD14) [MIM:617899]
P61964	WDR5_HUMAN	208	T	M	Unclassified	-
P61981	1433G_HUMAN	133	Y	S	Disease	-
P61981	1433G_HUMAN	129	D	E	Disease	Epileptic encephalopathy, early infantile, 56 (EIEE56) [MIM:617665]
P61981	1433G_HUMAN	15	E	A	Unclassified	Epileptic encephalopathy, early infantile, 56 (EIEE56) [MIM:617665]
P61981	1433G_HUMAN	132	R	C	Disease	Epileptic encephalopathy, early infantile, 56 (EIEE56) [MIM:617665]
P61981	1433G_HUMAN	50	K	Q	Unclassified	-
P62068	UBP46_HUMAN	81	A	V	Polymorphism	-
P62070	RRAS2_HUMAN	72	Q	L	Unclassified	An ovarian cancer sample
P62140	PP1B_HUMAN	252	D	Y	Disease	Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]
P62140	PP1B_HUMAN	56	A	P	Disease	Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]
P62140	PP1B_HUMAN	49	P	R	Disease	Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]
P62140	PP1B_HUMAN	274	E	K	Unclassified	Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]
P62140	PP1B_HUMAN	183	E	V	Disease	Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]
P62140	PP1B_HUMAN	183	E	A	Disease	Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]
P62195	PRS8_HUMAN	60	R	Q	Unclassified	A colorectal cancer sample
P62195	PRS8_HUMAN	258	R	W	Polymorphism	-
P62241	RS8_HUMAN	110	R	G	Polymorphism	-
P62266	RS23_HUMAN	67	R	K	Disease	Brachycephaly, trichomegaly, and developmental delay (BTDD) [MIM:617412]
P62266	RS23_HUMAN	120	F	I	Disease	Brachycephaly, trichomegaly, and developmental delay (BTDD) [MIM:617412]
P62273	RS29_HUMAN	31	I	F	Disease	Diamond-Blackfan anemia 13 (DBA13) [MIM:615909]
P62273	RS29_HUMAN	50	I	T	Disease	Diamond-Blackfan anemia 13 (DBA13) [MIM:615909]
P62304	RUXE_HUMAN	45	G	S	Disease	Hypotrichosis 11 (HYPT11) [MIM:615059]
P62324	BTG1_HUMAN	139	N	S	Polymorphism	-
P62324	BTG1_HUMAN	141	Q	E	Polymorphism	-
P62508	ERR3_HUMAN	50	T	M	Polymorphism	-
P62736	ACTA_HUMAN	258	R	C	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	185	R	Q	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	145	Y	C	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	135	Y	H	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	326	T	N	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	353	T	N	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	179	R	H	Disease	Moyamoya disease 5 (MYMY5) [MIM:614042]
P62736	ACTA_HUMAN	258	R	H	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	212	R	Q	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	179	R	H	Disease	Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]
P62736	ACTA_HUMAN	117	N	T	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	39	R	H	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	292	R	G	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	320	T	A	Polymorphism	-
P62736	ACTA_HUMAN	373	H	P	Polymorphism	-
P62736	ACTA_HUMAN	154	V	A	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	149	R	C	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	118	R	Q	Disease	Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736	ACTA_HUMAN	196	T	S	Polymorphism	-
P62750	RL23A_HUMAN	99	I	T	Unclassified	-
P62753	RS6_HUMAN	221	K	R	Polymorphism	-
P62760	VISL1_HUMAN	172	K	R	Polymorphism	-
P62760	VISL1_HUMAN	65	A	G	Polymorphism	-
P62805	H4_HUMAN	64	E	Q	Unclassified	A breast cancer sample
P62807	H2B1C_HUMAN	27	G	S	Polymorphism	-
P62854	RS26_HUMAN	33	D	N	Disease	Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]
P62854	RS26_HUMAN	115	M	T	Disease	Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]
P62861	RS30_HUMAN	19	V	M	Polymorphism	-
P62873	GBB1_HUMAN	95	L	P	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	78	K	R	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	80	I	T	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	76	D	G	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	91	H	R	Unclassified	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	326	A	T	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	52	R	G	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	101	M	V	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	30	L	F	Unclassified	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	96	R	L	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	76	D	E	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	337	K	Q	Unclassified	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	77	G	S	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	94	P	S	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	80	I	N	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	106	A	T	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	118	D	G	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	92	A	T	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62873	GBB1_HUMAN	64	G	V	Disease	Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
P62906	RL10A_HUMAN	154	T	P	Polymorphism	-
P62913	RL11_HUMAN	20	L	H	Disease	Diamond-Blackfan anemia 7 (DBA7) [MIM:612562]
P62917	RL8_HUMAN	98	I	V	Polymorphism	-
P62952	BLCAP_HUMAN	2	Y	C	Polymorphism	-
P62952	BLCAP_HUMAN	5	Q	R	Unclassified	-
P62952	BLCAP_HUMAN	15	K	R	Polymorphism	-
P63000	RAC1_HUMAN	26	N	D	Polymorphism	-
P63000	RAC1_HUMAN	108	T	I	Polymorphism	-
P63000	RAC1_HUMAN	130	K	R	Polymorphism	-
P63000	RAC1_HUMAN	133	K	E	Polymorphism	-
P63000	RAC1_HUMAN	51	V	M	Disease	Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
P63000	RAC1_HUMAN	93	V	I	Polymorphism	-
P63000	RAC1_HUMAN	93	V	G	Polymorphism	-
P63000	RAC1_HUMAN	73	P	L	Disease	Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
P63000	RAC1_HUMAN	180	P	S	Polymorphism	-
P63000	RAC1_HUMAN	39	N	S	Disease	Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
P63000	RAC1_HUMAN	135	T	I	Polymorphism	-
P63000	RAC1_HUMAN	63	D	G	Polymorphism	-
P63000	RAC1_HUMAN	59	A	T	Polymorphism	-
P63000	RAC1_HUMAN	182	V	E	Polymorphism	-
P63000	RAC1_HUMAN	51	V	L	Unclassified	Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
P63000	RAC1_HUMAN	28	F	L	Polymorphism	-
P63000	RAC1_HUMAN	18	C	Y	Disease	Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
P63000	RAC1_HUMAN	157	C	Y	Disease	Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
P63000	RAC1_HUMAN	64	Y	D	Disease	Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
P63092	GNAS2_HUMAN	159	V	M	Disease	Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]
P63092	GNAS2_HUMAN	385	R	H	Disease	Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092	GNAS2_HUMAN	338	K	N	Disease	Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]
P63092	GNAS2_HUMAN	106	I	S	Unclassified	-
P63092	GNAS2_HUMAN	227	Q	H	Polymorphism	-
P63092	GNAS2_HUMAN	380	R	L	Polymorphism	-
P63092	GNAS2_HUMAN	231	R	H	Disease	Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092	GNAS2_HUMAN	258	R	W	Disease	Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092	GNAS2_HUMAN	165	R	C	Disease	Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092	GNAS2_HUMAN	201	R	S	Disease	ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080]
P63092	GNAS2_HUMAN	201	R	H	Disease	McCune-Albright syndrome (MAS) [MIM:174800]
P63092	GNAS2_HUMAN	201	R	G	Disease	McCune-Albright syndrome (MAS) [MIM:174800]
P63092	GNAS2_HUMAN	156	D	N	Disease	Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]
P63092	GNAS2_HUMAN	392	E	K	Disease	Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]
P63092	GNAS2_HUMAN	388	L	R	Disease	Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]
P63092	GNAS2_HUMAN	201	R	C	Disease	McCune-Albright syndrome (MAS) [MIM:174800]
P63092	GNAS2_HUMAN	201	R	L	Unclassified	Non-MAS endocrine tumors
P63092	GNAS2_HUMAN	250	S	R	Disease	Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092	GNAS2_HUMAN	242	T	I	Disease	Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092	GNAS2_HUMAN	280	R	K	Disease	Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]
P63092	GNAS2_HUMAN	227	Q	R	Polymorphism	-
P63092	GNAS2_HUMAN	246	F	S	Disease	Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092	GNAS2_HUMAN	259	E	V	Disease	Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092	GNAS2_HUMAN	99	L	P	Disease	Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092	GNAS2_HUMAN	280	R	G	Disease	Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]
P63092	GNAS2_HUMAN	366	A	S	Disease	Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]
P63092	GNAS2_HUMAN	115	P	L	Disease	Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092	GNAS2_HUMAN	281	W	R	Disease	Progressive osseous heteroplasia (POH) [MIM:166350]
P63092	GNAS2_HUMAN	201	R	H	Disease	ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080]
P63211	GBG1_HUMAN	50	E	K	Polymorphism	-
P63252	KCNJ2_HUMAN	93	V	I	Disease	Atrial fibrillation, familial, 9 (ATFB9) [MIM:613980]
P63252	KCNJ2_HUMAN	67	R	W	Disease	Long QT syndrome 7 (LQT7) [MIM:170390]
P63252	KCNJ2_HUMAN	75	T	R	Disease	Long QT syndrome 7 (LQT7) [MIM:170390]
P63252	KCNJ2_HUMAN	305	T	P	Disease	Long QT syndrome 7 (LQT7) [MIM:170390]
P63252	KCNJ2_HUMAN	216	N	H	Disease	Long QT syndrome 7 (LQT7) [MIM:170390]
P63252	KCNJ2_HUMAN	172	D	N	Disease	Short QT syndrome 3 (SQT3) [MIM:609622]
P63252	KCNJ2_HUMAN	302	V	M	Disease	Long QT syndrome 7 (LQT7) [MIM:170390]
P63252	KCNJ2_HUMAN	186	P	L	Disease	Long QT syndrome 7 (LQT7) [MIM:170390]
P63252	KCNJ2_HUMAN	300	G	V	Disease	Long QT syndrome 7 (LQT7) [MIM:170390]
P63252	KCNJ2_HUMAN	218	R	W	Disease	Long QT syndrome 7 (LQT7) [MIM:170390]
P63252	KCNJ2_HUMAN	71	D	V	Disease	Long QT syndrome 7 (LQT7) [MIM:170390]
P63252	KCNJ2_HUMAN	54	C	F	Disease	Long QT syndrome 7 (LQT7) [MIM:170390]
P63261	ACTG_HUMAN	118	K	N	Disease	Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261	ACTG_HUMAN	155	S	F	Disease	Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63261	ACTG_HUMAN	203	T	K	Disease	Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63261	ACTG_HUMAN	135	A	V	Disease	Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63261	ACTG_HUMAN	160	T	I	Polymorphism	-
P63261	ACTG_HUMAN	316	E	K	Unclassified	Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261	ACTG_HUMAN	241	E	K	Disease	Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261	ACTG_HUMAN	264	P	L	Disease	Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261	ACTG_HUMAN	120	T	I	Disease	Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63261	ACTG_HUMAN	118	K	M	Disease	Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261	ACTG_HUMAN	370	V	A	Disease	Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261	ACTG_HUMAN	70	P	L	Unclassified	-
P63261	ACTG_HUMAN	187	D	H	Disease	Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261	ACTG_HUMAN	278	T	I	Disease	Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261	ACTG_HUMAN	256	R	W	Disease	Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63261	ACTG_HUMAN	89	T	I	Disease	Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261	ACTG_HUMAN	332	P	A	Disease	Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261	ACTG_HUMAN	122	I	V	Disease	Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261	ACTG_HUMAN	254	R	W	Disease	Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63267	ACTH_HUMAN	178	R	H	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63267	ACTH_HUMAN	134	Y	N	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63267	ACTH_HUMAN	178	R	C	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63267	ACTH_HUMAN	63	R	G	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63267	ACTH_HUMAN	257	R	C	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63267	ACTH_HUMAN	198	G	D	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63267	ACTH_HUMAN	40	R	C	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63267	ACTH_HUMAN	110	P	L	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63267	ACTH_HUMAN	178	R	L	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63267	ACTH_HUMAN	40	R	H	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63267	ACTH_HUMAN	148	R	S	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63267	ACTH_HUMAN	45	M	T	Disease	Visceral myopathy (VSCM) [MIM:155310]
P63313	TYB10_HUMAN	7	M	R	Polymorphism	-
P63316	TNNC1_HUMAN	84	C	Y	Disease	Cardiomyopathy, familial hypertrophic 13 (CMH13) [MIM:613243]
P63316	TNNC1_HUMAN	134	E	D	Disease	Cardiomyopathy, familial hypertrophic 13 (CMH13) [MIM:613243]
P63316	TNNC1_HUMAN	29	L	Q	Disease	Cardiomyopathy, familial hypertrophic 13 (CMH13) [MIM:613243]
P63316	TNNC1_HUMAN	8	A	V	Disease	Cardiomyopathy, familial hypertrophic 13 (CMH13) [MIM:613243]
P63316	TNNC1_HUMAN	159	G	R	Disease	Cardiomyopathy, dilated 1Z (CMD1Z) [MIM:611879]
P63316	TNNC1_HUMAN	145	D	E	Disease	Cardiomyopathy, familial hypertrophic 13 (CMH13) [MIM:613243]
P67775	PP2AA_HUMAN	52	V	A	Polymorphism	-
P67936	TPM4_HUMAN	204	E	Q	Unclassified	A breast cancer sample
P68032	ACTC_HUMAN	97	R	C	Disease	Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032	ACTC_HUMAN	314	R	H	Disease	Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
P68032	ACTC_HUMAN	90	H	Y	Disease	Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032	ACTC_HUMAN	307	M	L	Disease	Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032	ACTC_HUMAN	333	A	P	Disease	Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032	ACTC_HUMAN	166	P	A	Disease	Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032	ACTC_HUMAN	125	M	V	Disease	Atrial septal defect 5 (ASD5) [MIM:612794]
P68032	ACTC_HUMAN	168	Y	C	Disease	Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032	ACTC_HUMAN	297	A	S	Disease	Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032	ACTC_HUMAN	101	E	K	Disease	Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032	ACTC_HUMAN	363	E	G	Disease	Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
P68133	ACTS_HUMAN	334	P	S	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P68133	ACTS_HUMAN	27	D	N	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	136	V	A	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	150	T	N	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	336	E	A	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	96	L	P	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	140	A	P	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	77	I	L	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	148	G	D	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	338	K	E	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	156	D	N	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	226	E	G	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	181	D	G	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	142	L	P	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	165	V	M	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	328	K	N	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	116	A	T	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	42	H	Y	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	198	R	L	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	172	A	G	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	265	Q	L	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	40	P	L	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	243	E	K	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	359	I	L	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	185	R	C	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	184	G	D	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	197	E	D	Disease	Myopathy, scapulohumeroperoneal (SHPM) [MIM:616852]
P68133	ACTS_HUMAN	270	G	C	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	358	W	C	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	185	R	S	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	117	N	T	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	350	S	L	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	118	R	H	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	288	D	G	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	227	N	V	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	165	V	L	Disease	Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
P68133	ACTS_HUMAN	37	V	L	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	285	M	K	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	375	K	Q	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	181	D	N	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	274	A	E	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	258	R	L	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	138	I	M	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	226	E	Q	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	181	D	H	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	85	E	K	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	281	Y	H	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	185	R	D	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	79	T	A	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	117	N	S	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	261	E	V	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	45	V	F	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	199	G	S	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	338	K	I	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	248	Q	K	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	185	R	G	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	229	M	I	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	229	M	V	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	374	R	S	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	270	G	R	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	258	R	H	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	17	G	R	Disease	Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
P68133	ACTS_HUMAN	253	G	D	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	248	Q	R	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	229	M	T	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	44	G	V	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	282	N	K	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	75	H	L	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	43	Q	R	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	294	D	V	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P68133	ACTS_HUMAN	223	L	P	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
P68133	ACTS_HUMAN	134	M	V	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	74	E	K	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	66	I	N	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	372	V	F	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	68	T	I	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	271	M	R	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	375	K	E	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	270	G	D	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	75	H	R	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68133	ACTS_HUMAN	3	D	Y	Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]
P68366	TBA4A_HUMAN	320	R	C	Disease	Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208]
P68366	TBA4A_HUMAN	320	R	H	Disease	Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208]
P68366	TBA4A_HUMAN	383	A	T	Disease	Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208]
P68366	TBA4A_HUMAN	145	T	P	Disease	Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208]
P68366	TBA4A_HUMAN	215	R	C	Disease	Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208]
P68371	TBB4B_HUMAN	391	R	H	Disease	Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879]
P68371	TBB4B_HUMAN	391	R	C	Disease	Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879]
P68400	CSK21_HUMAN	47	R	Q	Disease	Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062]
P68400	CSK21_HUMAN	198	K	R	Disease	Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062]
P68400	CSK21_HUMAN	50	Y	S	Disease	Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062]
P68400	CSK21_HUMAN	175	D	G	Disease	Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062]
P68431	H31_HUMAN	37	K	M	Disease	-
P68431	H31_HUMAN	37	K	I	Disease	-
P68431	H31_HUMAN	28	K	M	Disease	Glioma (GLM) [MIM:137800]
P68871	HBB_HUMAN	64	H	Y	Polymorphism	-
P68871	HBB_HUMAN	139	A	P	Polymorphism	-
P68871	HBB_HUMAN	63	A	P	Polymorphism	-
P68871	HBB_HUMAN	68	V	M	Polymorphism	-
P68871	HBB_HUMAN	137	G	D	Polymorphism	-
P68871	HBB_HUMAN	21	V	M	Polymorphism	-
P68871	HBB_HUMAN	63	A	D	Polymorphism	-
P68871	HBB_HUMAN	66	K	M	Polymorphism	-
P68871	HBB_HUMAN	70	G	D	Polymorphism	-
P68871	HBB_HUMAN	70	G	R	Polymorphism	-
P68871	HBB_HUMAN	37	P	S	Polymorphism	-
P68871	HBB_HUMAN	84	G	D	Polymorphism	-
P68871	HBB_HUMAN	7	E	Q	Polymorphism	-
P68871	HBB_HUMAN	7	E	V	Disease	Sickle cell anemia (SKCA) [MIM:603903]
P68871	HBB_HUMAN	66	K	Q	Polymorphism	-
P68871	HBB_HUMAN	91	E	K	Polymorphism	-
P68871	HBB_HUMAN	23	E	Q	Polymorphism	-
P68871	HBB_HUMAN	71	A	D	Polymorphism	-
P68871	HBB_HUMAN	62	K	M	Polymorphism	-
P68871	HBB_HUMAN	136	A	P	Polymorphism	-
P68871	HBB_HUMAN	3	H	Y	Polymorphism	-
P68871	HBB_HUMAN	93	H	D	Polymorphism	-
P68871	HBB_HUMAN	81	N	K	Polymorphism	-
P68871	HBB_HUMAN	74	D	V	Polymorphism	-
P68871	HBB_HUMAN	23	E	K	Polymorphism	-
P68871	HBB_HUMAN	24	V	G	Polymorphism	-
P68871	HBB_HUMAN	35	V	L	Polymorphism	-
P68871	HBB_HUMAN	146	Y	C	Polymorphism	-
P68871	HBB_HUMAN	69	L	H	Polymorphism	-
P68871	HBB_HUMAN	68	V	A	Polymorphism	-
P68871	HBB_HUMAN	140	N	D	Polymorphism	-
P68871	HBB_HUMAN	11	A	V	Polymorphism	-
P68871	HBB_HUMAN	6	P	R	Polymorphism	-
P68871	HBB_HUMAN	20	N	D	Polymorphism	-
P68871	HBB_HUMAN	22	D	N	Polymorphism	-
P68871	HBB_HUMAN	92	L	R	Polymorphism	-
P68871	HBB_HUMAN	8	E	G	Polymorphism	-
P68871	HBB_HUMAN	7	E	A	Polymorphism	-
P68871	HBB_HUMAN	140	N	S	Unclassified	-
P68871	HBB_HUMAN	144	H	Q	Polymorphism	-
P68871	HBB_HUMAN	62	K	E	Polymorphism	-
P68871	HBB_HUMAN	56	M	K	Polymorphism	-
P68871	HBB_HUMAN	146	Y	H	Polymorphism	-
P68871	HBB_HUMAN	20	N	K	Polymorphism	-
P68871	HBB_HUMAN	39	T	N	Polymorphism	-
P68871	HBB_HUMAN	144	H	D	Polymorphism	-
P68871	HBB_HUMAN	22	D	H	Polymorphism	-
P68871	HBB_HUMAN	24	V	F	Polymorphism	-
P68871	HBB_HUMAN	24	V	D	Polymorphism	-
P68871	HBB_HUMAN	37	P	R	Polymorphism	-
P68871	HBB_HUMAN	7	E	K	Polymorphism	-
P68871	HBB_HUMAN	69	L	P	Polymorphism	-
P68871	HBB_HUMAN	142	L	R	Polymorphism	-
P68871	HBB_HUMAN	104	F	L	Polymorphism	-
P68871	HBB_HUMAN	72	F	S	Polymorphism	-
P68871	HBB_HUMAN	55	V	D	Polymorphism	-
P68871	HBB_HUMAN	18	K	N	Polymorphism	-
P68871	HBB_HUMAN	20	N	S	Polymorphism	-
P68871	HBB_HUMAN	91	E	D	Polymorphism	-
P68871	HBB_HUMAN	83	K	N	Polymorphism	-
P68871	HBB_HUMAN	3	H	L	Polymorphism	-
P68871	HBB_HUMAN	25	G	R	Polymorphism	-
P68871	HBB_HUMAN	25	G	D	Polymorphism	-
P68871	HBB_HUMAN	74	D	Y	Polymorphism	-
P68871	HBB_HUMAN	141	A	T	Polymorphism	-
P68871	HBB_HUMAN	3	H	Q	Polymorphism	-
P68871	HBB_HUMAN	140	N	Y	Polymorphism	-
P68871	HBB_HUMAN	59	P	R	Polymorphism	-
P68871	HBB_HUMAN	74	D	G	Polymorphism	-
P68871	HBB_HUMAN	57	G	R	Polymorphism	-
P68871	HBB_HUMAN	89	L	R	Polymorphism	-
P68871	HBB_HUMAN	66	K	N	Polymorphism	-
P68871	HBB_HUMAN	88	T	I	Polymorphism	-
P68871	HBB_HUMAN	143	A	D	Polymorphism	-
P68871	HBB_HUMAN	23	E	V	Polymorphism	-
P68871	HBB_HUMAN	26	G	D	Polymorphism	-
P68871	HBB_HUMAN	22	D	Y	Polymorphism	-
P68871	HBB_HUMAN	2	V	A	Polymorphism	-
P68871	HBB_HUMAN	115	L	P	Disease	Beta-thalassemia (B-THAL) [MIM:613985]
P68871	HBB_HUMAN	14	A	D	Polymorphism	-
P68871	HBB_HUMAN	10	S	C	Polymorphism	-
P68871	HBB_HUMAN	58	N	K	Polymorphism	-
P68871	HBB_HUMAN	19	V	M	Polymorphism	-
P68871	HBB_HUMAN	105	R	S	Polymorphism	-
P68871	HBB_HUMAN	38	W	S	Polymorphism	-
P68871	HBB_HUMAN	90	S	N	Polymorphism	-
P68871	HBB_HUMAN	88	T	K	Polymorphism	-
P68871	HBB_HUMAN	145	K	E	Polymorphism	-
P68871	HBB_HUMAN	25	G	V	Polymorphism	-
P68871	HBB_HUMAN	147	H	P	Polymorphism	-
P68871	HBB_HUMAN	92	L	P	Polymorphism	-
P68871	HBB_HUMAN	16	W	G	Polymorphism	-
P68871	HBB_HUMAN	132	Q	R	Polymorphism	-
P68871	HBB_HUMAN	82	L	H	Polymorphism	-
P68871	HBB_HUMAN	70	G	S	Polymorphism	-
P68871	HBB_HUMAN	61	V	A	Polymorphism	-
P68871	HBB_HUMAN	9	K	Q	Polymorphism	-
P68871	HBB_HUMAN	89	L	P	Polymorphism	-
P68871	HBB_HUMAN	135	V	E	Polymorphism	-
P68871	HBB_HUMAN	133	K	N	Polymorphism	-
P68871	HBB_HUMAN	78	H	Y	Polymorphism	-
P68871	HBB_HUMAN	35	V	D	Polymorphism	-
P68871	HBB_HUMAN	23	E	G	Polymorphism	-
P68871	HBB_HUMAN	3	H	R	Polymorphism	-
P68871	HBB_HUMAN	115	L	M	Polymorphism	-
P68871	HBB_HUMAN	9	K	T	Polymorphism	-
P68871	HBB_HUMAN	15	L	P	Polymorphism	-
P68871	HBB_HUMAN	140	N	K	Polymorphism	-
P68871	HBB_HUMAN	18	K	Q	Polymorphism	-
P68871	HBB_HUMAN	132	Q	K	Polymorphism	-
P68871	HBB_HUMAN	84	G	R	Polymorphism	-
P68871	HBB_HUMAN	134	V	L	Polymorphism	-
P68871	HBB_HUMAN	38	W	G	Polymorphism	-
P68871	HBB_HUMAN	27	E	K	Disease	Beta-thalassemia (B-THAL) [MIM:613985]
P68871	HBB_HUMAN	144	H	R	Polymorphism	-
P68871	HBB_HUMAN	23	E	A	Polymorphism	-
P68871	HBB_HUMAN	147	H	D	Polymorphism	-
P68871	HBB_HUMAN	147	H	Q	Polymorphism	-
P68871	HBB_HUMAN	67	K	I	Unclassified	-
P68871	HBB_HUMAN	12	V	I	Polymorphism	-
P68871	HBB_HUMAN	18	K	E	Polymorphism	-
P68871	HBB_HUMAN	60	K	E	Polymorphism	-
P68871	HBB_HUMAN	15	L	R	Polymorphism	-
P68871	HBB_HUMAN	90	S	R	Polymorphism	-
P68871	HBB_HUMAN	80	D	Y	Polymorphism	-
P68871	HBB_HUMAN	22	D	G	Polymorphism	-
P68871	HBB_HUMAN	37	P	T	Polymorphism	-
P68871	HBB_HUMAN	133	K	Q	Polymorphism	-
P68871	HBB_HUMAN	26	G	R	Polymorphism	-
P68871	HBB_HUMAN	62	K	N	Polymorphism	-
P68871	HBB_HUMAN	11	A	D	Polymorphism	-
P68871	HBB_HUMAN	82	L	R	Polymorphism	-
P68871	HBB_HUMAN	113	C	F	Polymorphism	-
P68871	HBB_HUMAN	141	A	D	Polymorphism	-
P68871	HBB_HUMAN	17	G	D	Polymorphism	-
P68871	HBB_HUMAN	132	Q	P	Polymorphism	-
P68871	HBB_HUMAN	87	A	D	Polymorphism	-
P68871	HBB_HUMAN	76	L	P	Polymorphism	-
P68871	HBB_HUMAN	83	K	M	Polymorphism	-
P68871	HBB_HUMAN	88	T	P	Polymorphism	-
P68871	HBB_HUMAN	40	Q	E	Polymorphism	-
P68871	HBB_HUMAN	141	A	V	Polymorphism	-
P68871	HBB_HUMAN	67	K	T	Polymorphism	-
P68871	HBB_HUMAN	144	H	P	Polymorphism	-
P68871	HBB_HUMAN	8	E	K	Polymorphism	-
P68871	HBB_HUMAN	147	H	L	Polymorphism	-
P68871	HBB_HUMAN	16	W	R	Polymorphism	-
P68871	HBB_HUMAN	136	A	D	Polymorphism	-
P68871	HBB_HUMAN	17	G	R	Polymorphism	-
P68871	HBB_HUMAN	85	T	I	Polymorphism	-
P68871	HBB_HUMAN	9	K	E	Polymorphism	-
P68871	HBB_HUMAN	132	Q	E	Polymorphism	-
P68871	HBB_HUMAN	75	G	V	Polymorphism	-
P68871	HBB_HUMAN	79	L	R	Polymorphism	-
P68871	HBB_HUMAN	78	H	R	Polymorphism	-
P68871	HBB_HUMAN	131	Y	D	Polymorphism	-
P68871	HBB_HUMAN	105	R	T	Polymorphism	-
P68871	HBB_HUMAN	110	V	M	Polymorphism	-
P68871	HBB_HUMAN	98	H	L	Polymorphism	-
P68871	HBB_HUMAN	12	V	D	Polymorphism	-
P68871	HBB_HUMAN	43	F	S	Polymorphism	-
P68871	HBB_HUMAN	68	V	G	Polymorphism	-
P68871	HBB_HUMAN	29	L	Q	Polymorphism	-
P68871	HBB_HUMAN	49	L	P	Polymorphism	-
P68871	HBB_HUMAN	118	H	Y	Polymorphism	-
P68871	HBB_HUMAN	51	T	K	Unclassified	-
P68871	HBB_HUMAN	48	D	A	Polymorphism	-
P68871	HBB_HUMAN	111	L	P	Polymorphism	-
P68871	HBB_HUMAN	103	N	Y	Polymorphism	-
P68871	HBB_HUMAN	102	E	K	Polymorphism	-
P68871	HBB_HUMAN	95	D	H	Polymorphism	-
P68871	HBB_HUMAN	101	P	L	Polymorphism	-
P68871	HBB_HUMAN	98	H	P	Polymorphism	-
P68871	HBB_HUMAN	82	L	V	Polymorphism	-
P68871	HBB_HUMAN	76	L	R	Polymorphism	-
P68871	HBB_HUMAN	129	A	D	Polymorphism	-
P68871	HBB_HUMAN	68	V	D	Unclassified	-
P68871	HBB_HUMAN	52	P	R	Polymorphism	-
P68871	HBB_HUMAN	128	Q	E	Polymorphism	-
P68871	HBB_HUMAN	118	H	P	Polymorphism	-
P68871	HBB_HUMAN	50	S	F	Polymorphism	-
P68871	HBB_HUMAN	28	A	D	Polymorphism	-
P68871	HBB_HUMAN	131	Y	S	Polymorphism	-
P68871	HBB_HUMAN	101	P	R	Polymorphism	-
P68871	HBB_HUMAN	97	L	P	Polymorphism	-
P68871	HBB_HUMAN	53	D	H	Polymorphism	-
P68871	HBB_HUMAN	102	E	D	Polymorphism	-
P68871	HBB_HUMAN	38	W	R	Polymorphism	-
P68871	HBB_HUMAN	94	C	R	Polymorphism	-
P68871	HBB_HUMAN	97	L	V	Polymorphism	-
P68871	HBB_HUMAN	78	H	D	Polymorphism	-
P68871	HBB_HUMAN	122	E	V	Polymorphism	-
P68871	HBB_HUMAN	45	S	C	Polymorphism	-
P68871	HBB_HUMAN	40	Q	K	Polymorphism	-
P68871	HBB_HUMAN	36	Y	F	Polymorphism	-
P68871	HBB_HUMAN	102	E	Q	Polymorphism	-
P68871	HBB_HUMAN	103	N	S	Polymorphism	-
P68871	HBB_HUMAN	35	V	F	Polymorphism	-
P68871	HBB_HUMAN	127	V	E	Polymorphism	-
P68871	HBB_HUMAN	108	G	R	Polymorphism	-
P68871	HBB_HUMAN	130	A	P	Polymorphism	-
P68871	HBB_HUMAN	93	H	P	Polymorphism	-
P68871	HBB_HUMAN	40	Q	R	Polymorphism	-
P68871	HBB_HUMAN	109	N	K	Polymorphism	-
P68871	HBB_HUMAN	98	H	Y	Polymorphism	-
P68871	HBB_HUMAN	118	H	R	Polymorphism	-
P68871	HBB_HUMAN	42	F	Y	Polymorphism	-
P68871	HBB_HUMAN	124	T	I	Polymorphism	-
P68871	HBB_HUMAN	29	L	P	Polymorphism	-
P68871	HBB_HUMAN	28	A	S	Polymorphism	-
P68871	HBB_HUMAN	28	A	V	Polymorphism	-
P68871	HBB_HUMAN	128	Q	K	Polymorphism	-
P68871	HBB_HUMAN	98	H	Q	Polymorphism	-
P68871	HBB_HUMAN	125	P	S	Polymorphism	-
P68871	HBB_HUMAN	93	H	N	Polymorphism	-
P68871	HBB_HUMAN	53	D	A	Polymorphism	-
P68871	HBB_HUMAN	130	A	V	Polymorphism	-
P68871	HBB_HUMAN	77	A	D	Polymorphism	-
P68871	HBB_HUMAN	32	L	P	Polymorphism	-
P68871	HBB_HUMAN	31	R	S	Polymorphism	-
P68871	HBB_HUMAN	43	F	L	Polymorphism	-
P68871	HBB_HUMAN	96	K	N	Polymorphism	-
P68871	HBB_HUMAN	125	P	Q	Polymorphism	-
P68871	HBB_HUMAN	125	P	R	Polymorphism	-
P68871	HBB_HUMAN	127	V	G	Disease	Beta-thalassemia (B-THAL) [MIM:613985]
P68871	HBB_HUMAN	93	H	Q	Polymorphism	-
P68871	HBB_HUMAN	121	K	E	Polymorphism	-
P68871	HBB_HUMAN	121	K	Q	Polymorphism	-
P68871	HBB_HUMAN	100	D	E	Polymorphism	-
P68871	HBB_HUMAN	95	D	G	Polymorphism	-
P68871	HBB_HUMAN	99	V	G	Polymorphism	-
P68871	HBB_HUMAN	127	V	A	Polymorphism	-
P68871	HBB_HUMAN	48	D	Y	Polymorphism	-
P68871	HBB_HUMAN	46	F	S	Polymorphism	-
P68871	HBB_HUMAN	27	E	V	Polymorphism	-
P68871	HBB_HUMAN	122	E	G	Polymorphism	-
P68871	HBB_HUMAN	75	G	R	Polymorphism	-
P68871	HBB_HUMAN	113	C	Y	Polymorphism	-
P68871	HBB_HUMAN	33	L	V	Polymorphism	-
P68871	HBB_HUMAN	33	L	R	Polymorphism	-
P68871	HBB_HUMAN	117	H	Q	Polymorphism	-
P68871	HBB_HUMAN	47	G	E	Polymorphism	-
P68871	HBB_HUMAN	44	E	Q	Polymorphism	-
P68871	HBB_HUMAN	102	E	G	Polymorphism	-
P68871	HBB_HUMAN	96	K	M	Polymorphism	-
P68871	HBB_HUMAN	122	E	K	Polymorphism	-
P68871	HBB_HUMAN	116	A	D	Disease	Beta-thalassemia (B-THAL) [MIM:613985]
P68871	HBB_HUMAN	113	C	R	Polymorphism	-
P68871	HBB_HUMAN	30	G	D	Polymorphism	-
P68871	HBB_HUMAN	95	D	N	Polymorphism	-
P68871	HBB_HUMAN	122	E	Q	Polymorphism	-
P68871	HBB_HUMAN	121	K	I	Polymorphism	-
P68871	HBB_HUMAN	122	E	A	Polymorphism	-
P68871	HBB_HUMAN	117	H	L	Polymorphism	-
P68871	HBB_HUMAN	48	D	G	Polymorphism	-
P68871	HBB_HUMAN	116	A	P	Polymorphism	-
P68871	HBB_HUMAN	120	G	A	Polymorphism	-
P68871	HBB_HUMAN	112	V	A	Polymorphism	-
P69891	HBG1_HUMAN	40	Q	R	Polymorphism	-
P69891	HBG1_HUMAN	81	D	N	Polymorphism	-
P69891	HBG1_HUMAN	80	D	N	Polymorphism	-
P69891	HBG1_HUMAN	74	D	H	Polymorphism	-
P69891	HBG1_HUMAN	38	W	G	Polymorphism	-
P69891	HBG1_HUMAN	54	A	D	Polymorphism	-
P69891	HBG1_HUMAN	26	G	R	Polymorphism	-
P69891	HBG1_HUMAN	98	H	R	Polymorphism	-
P69891	HBG1_HUMAN	135	V	M	Polymorphism	-
P69891	HBG1_HUMAN	7	E	Q	Polymorphism	-
P69891	HBG1_HUMAN	81	D	Y	Polymorphism	-
P69891	HBG1_HUMAN	73	G	R	Polymorphism	-
P69891	HBG1_HUMAN	129	A	T	Polymorphism	-
P69891	HBG1_HUMAN	76	I	T	Polymorphism	-
P69891	HBG1_HUMAN	74	D	N	Polymorphism	-
P69891	HBG1_HUMAN	13	T	R	Polymorphism	-
P69891	HBG1_HUMAN	23	D	G	Polymorphism	-
P69891	HBG1_HUMAN	37	P	R	Polymorphism	-
P69891	HBG1_HUMAN	6	E	K	Polymorphism	-
P69891	HBG1_HUMAN	41	R	K	Polymorphism	-
P69891	HBG1_HUMAN	44	D	N	Polymorphism	-
P69891	HBG1_HUMAN	122	E	K	Polymorphism	-
P69891	HBG1_HUMAN	3	H	Q	Polymorphism	-
P69891	HBG1_HUMAN	62	K	E	Polymorphism	-
P69891	HBG1_HUMAN	7	E	G	Polymorphism	-
P69892	HBG2_HUMAN	119	F	L	Polymorphism	-
P69892	HBG2_HUMAN	118	H	R	Polymorphism	-
P69892	HBG2_HUMAN	126	E	A	Polymorphism	-
P69892	HBG2_HUMAN	67	K	Q	Polymorphism	-
P69892	HBG2_HUMAN	13	T	R	Polymorphism	-
P69892	HBG2_HUMAN	56	M	R	Polymorphism	-
P69892	HBG2_HUMAN	42	F	S	Disease	Cyanosis transient neonatal (TNCY) [MIM:613977]
P69892	HBG2_HUMAN	8	D	N	Polymorphism	-
P69892	HBG2_HUMAN	17	G	R	Polymorphism	-
P69892	HBG2_HUMAN	121	K	Q	Polymorphism	-
P69892	HBG2_HUMAN	35	V	I	Polymorphism	-
P69892	HBG2_HUMAN	64	H	Y	Disease	Cyanosis transient neonatal (TNCY) [MIM:613977]
P69892	HBG2_HUMAN	27	E	K	Polymorphism	-
P69892	HBG2_HUMAN	45	S	R	Polymorphism	-
P69892	HBG2_HUMAN	18	K	N	Polymorphism	-
P69892	HBG2_HUMAN	76	I	T	Polymorphism	-
P69892	HBG2_HUMAN	6	E	G	Polymorphism	-
P69892	HBG2_HUMAN	73	G	R	Polymorphism	-
P69892	HBG2_HUMAN	60	K	Q	Polymorphism	-
P69892	HBG2_HUMAN	23	D	G	Polymorphism	-
P69892	HBG2_HUMAN	26	G	E	Polymorphism	-
P69892	HBG2_HUMAN	76	I	V	Polymorphism	-
P69892	HBG2_HUMAN	105	K	N	Polymorphism	-
P69892	HBG2_HUMAN	60	K	E	Polymorphism	-
P69892	HBG2_HUMAN	147	H	Y	Polymorphism	-
P69892	HBG2_HUMAN	41	R	K	Polymorphism	-
P69892	HBG2_HUMAN	66	K	N	Polymorphism	-
P69892	HBG2_HUMAN	78	H	R	Polymorphism	-
P69892	HBG2_HUMAN	93	H	Y	Disease	Cyanosis transient neonatal (TNCY) [MIM:613977]
P69892	HBG2_HUMAN	21	V	A	Polymorphism	-
P69892	HBG2_HUMAN	23	D	V	Polymorphism	-
P69892	HBG2_HUMAN	22	E	Q	Polymorphism	-
P69892	HBG2_HUMAN	102	E	K	Polymorphism	-
P69892	HBG2_HUMAN	81	D	N	Polymorphism	-
P69892	HBG2_HUMAN	68	V	M	Disease	Cyanosis transient neonatal (TNCY) [MIM:613977]
P69892	HBG2_HUMAN	9	K	Q	Polymorphism	-
P69892	HBG2_HUMAN	20	N	K	Polymorphism	-
P69892	HBG2_HUMAN	67	K	R	Polymorphism	-
P69892	HBG2_HUMAN	41	R	G	Polymorphism	-
P69892	HBG2_HUMAN	16	W	R	Polymorphism	-
P69892	HBG2_HUMAN	22	E	K	Polymorphism	-
P69892	HBG2_HUMAN	64	H	L	Disease	Cyanosis transient neonatal (TNCY) [MIM:613977]
P69892	HBG2_HUMAN	2	G	C	Polymorphism	-
P69892	HBG2_HUMAN	122	E	K	Polymorphism	-
P69892	HBG2_HUMAN	95	D	N	Polymorphism	-
P69892	HBG2_HUMAN	131	W	G	Polymorphism	-
P69892	HBG2_HUMAN	9	K	E	Polymorphism	-
P69892	HBG2_HUMAN	39	T	P	Polymorphism	-
P69892	HBG2_HUMAN	106	L	H	Disease	Cyanosis transient neonatal (TNCY) [MIM:613977]
P69905	HBA_HUMAN	137	L	M	Polymorphism	-
P69905	HBA_HUMAN	27	A	E	Polymorphism	-
P69905	HBA_HUMAN	22	A	D	Polymorphism	-
P69905	HBA_HUMAN	6	A	D	Polymorphism	-
P69905	HBA_HUMAN	51	H	R	Polymorphism	-
P69905	HBA_HUMAN	35	L	R	Polymorphism	-
P69905	HBA_HUMAN	24	E	K	Polymorphism	-
P69905	HBA_HUMAN	14	A	P	Polymorphism	-
P69905	HBA_HUMAN	17	K	N	Polymorphism	-
P69905	HBA_HUMAN	7	D	A	Polymorphism	-
P69905	HBA_HUMAN	103	S	R	Polymorphism	-
P69905	HBA_HUMAN	3	L	R	Polymorphism	-
P69905	HBA_HUMAN	31	E	K	Polymorphism	-
P69905	HBA_HUMAN	54	A	D	Polymorphism	-
P69905	HBA_HUMAN	58	G	R	Polymorphism	-
P69905	HBA_HUMAN	10	N	T	Polymorphism	-
P69905	HBA_HUMAN	98	N	K	Polymorphism	-
P69905	HBA_HUMAN	104	H	R	Polymorphism	-
P69905	HBA_HUMAN	140	K	T	Polymorphism	-
P69905	HBA_HUMAN	55	Q	R	Polymorphism	-
P69905	HBA_HUMAN	7	D	Y	Polymorphism	-
P69905	HBA_HUMAN	7	D	N	Polymorphism	-
P69905	HBA_HUMAN	57	K	R	Polymorphism	-
P69905	HBA_HUMAN	52	G	R	Polymorphism	-
P69905	HBA_HUMAN	52	G	D	Polymorphism	-
P69905	HBA_HUMAN	32	R	S	Polymorphism	-
P69905	HBA_HUMAN	111	A	D	Polymorphism	-
P69905	HBA_HUMAN	115	P	R	Polymorphism	-
P69905	HBA_HUMAN	24	E	G	Polymorphism	-
P69905	HBA_HUMAN	48	D	Y	Polymorphism	-
P69905	HBA_HUMAN	19	G	R	Polymorphism	-
P69905	HBA_HUMAN	89	A	S	Polymorphism	-
P69905	HBA_HUMAN	142	R	C	Polymorphism	-
P69905	HBA_HUMAN	141	Y	H	Polymorphism	-
P69905	HBA_HUMAN	25	Y	H	Polymorphism	-
P69905	HBA_HUMAN	92	L	F	Polymorphism	-
P69905	HBA_HUMAN	92	L	P	Polymorphism	-
P69905	HBA_HUMAN	28	E	V	Polymorphism	-
P69905	HBA_HUMAN	15	W	R	Polymorphism	-
P69905	HBA_HUMAN	7	D	G	Polymorphism	-
P69905	HBA_HUMAN	126	L	R	Polymorphism	-
P69905	HBA_HUMAN	12	K	E	Polymorphism	-
P69905	HBA_HUMAN	115	P	S	Polymorphism	-
P69905	HBA_HUMAN	142	R	L	Polymorphism	-
P69905	HBA_HUMAN	50	S	R	Polymorphism	-
P69905	HBA_HUMAN	137	L	P	Polymorphism	-
P69905	HBA_HUMAN	80	A	G	Polymorphism	-
P69905	HBA_HUMAN	23	G	D	Polymorphism	-
P69905	HBA_HUMAN	28	E	D	Polymorphism	-
P69905	HBA_HUMAN	21	H	R	Polymorphism	-
P69905	HBA_HUMAN	137	L	R	Polymorphism	-
P69905	HBA_HUMAN	13	A	D	Polymorphism	-
P69905	HBA_HUMAN	100	K	E	Polymorphism	-
P69905	HBA_HUMAN	91	K	M	Polymorphism	-
P69905	HBA_HUMAN	85	S	R	Polymorphism	-
P69905	HBA_HUMAN	140	K	E	Polymorphism	-
P69905	HBA_HUMAN	32	R	K	Polymorphism	-
P69905	HBA_HUMAN	22	A	P	Polymorphism	-
P69905	HBA_HUMAN	59	H	Q	Polymorphism	-
P69905	HBA_HUMAN	28	E	G	Polymorphism	-
P69905	HBA_HUMAN	142	R	P	Polymorphism	-
P69905	HBA_HUMAN	83	A	D	Polymorphism	-
P69905	HBA_HUMAN	79	N	K	Polymorphism	-
P69905	HBA_HUMAN	60	G	V	Polymorphism	-
P69905	HBA_HUMAN	8	K	E	Polymorphism	-
P69905	HBA_HUMAN	132	S	P	Polymorphism	-
P69905	HBA_HUMAN	57	K	T	Polymorphism	-
P69905	HBA_HUMAN	87	L	R	Polymorphism	-
P69905	HBA_HUMAN	136	V	E	Polymorphism	-
P69905	HBA_HUMAN	19	G	D	Polymorphism	-
P69905	HBA_HUMAN	6	A	P	Polymorphism	-
P69905	HBA_HUMAN	44	F	L	Polymorphism	-
P69905	HBA_HUMAN	139	S	P	Polymorphism	-
P69905	HBA_HUMAN	75	D	G	Polymorphism	-
P69905	HBA_HUMAN	76	D	H	Polymorphism	-
P69905	HBA_HUMAN	60	G	D	Polymorphism	-
P69905	HBA_HUMAN	65	D	Y	Polymorphism	-
P69905	HBA_HUMAN	126	L	P	Polymorphism	-
P69905	HBA_HUMAN	20	A	E	Polymorphism	-
P69905	HBA_HUMAN	131	A	D	Polymorphism	-
P69905	HBA_HUMAN	95	D	Y	Polymorphism	-
P69905	HBA_HUMAN	88	H	R	Polymorphism	-
P69905	HBA_HUMAN	115	P	L	Polymorphism	-
P69905	HBA_HUMAN	93	R	W	Polymorphism	-
P69905	HBA_HUMAN	142	R	H	Polymorphism	-
P69905	HBA_HUMAN	123	H	Q	Polymorphism	-
P69905	HBA_HUMAN	77	M	K	Polymorphism	-
P69905	HBA_HUMAN	62	K	T	Polymorphism	-
P69905	HBA_HUMAN	61	K	N	Polymorphism	-
P69905	HBA_HUMAN	41	K	M	Polymorphism	-
P69905	HBA_HUMAN	63	V	M	Polymorphism	-
P69905	HBA_HUMAN	21	H	Q	Polymorphism	-
P69905	HBA_HUMAN	127	D	G	Polymorphism	-
P69905	HBA_HUMAN	134	S	R	Polymorphism	-
P69905	HBA_HUMAN	114	L	H	Polymorphism	-
P69905	HBA_HUMAN	104	H	Y	Polymorphism	-
P69905	HBA_HUMAN	20	A	D	Unclassified	-
P69905	HBA_HUMAN	88	H	N	Polymorphism	-
P69905	HBA_HUMAN	77	M	T	Polymorphism	-
P69905	HBA_HUMAN	46	H	R	Polymorphism	-
P69905	HBA_HUMAN	72	A	V	Polymorphism	-
P69905	HBA_HUMAN	79	N	H	Polymorphism	-
P69905	HBA_HUMAN	110	L	R	Polymorphism	-
P69905	HBA_HUMAN	62	K	N	Polymorphism	-
P69905	HBA_HUMAN	72	A	E	Polymorphism	-
P69905	HBA_HUMAN	16	G	R	Polymorphism	-
P69905	HBA_HUMAN	96	P	T	Polymorphism	-
P69905	HBA_HUMAN	127	D	V	Polymorphism	-
P69905	HBA_HUMAN	127	D	Y	Polymorphism	-
P69905	HBA_HUMAN	128	K	N	Polymorphism	-
P69905	HBA_HUMAN	95	D	A	Polymorphism	-
P69905	HBA_HUMAN	86	D	V	Polymorphism	-
P69905	HBA_HUMAN	113	H	D	Polymorphism	-
P69905	HBA_HUMAN	96	P	A	Polymorphism	-
P69905	HBA_HUMAN	73	H	R	Polymorphism	-
P69905	HBA_HUMAN	69	N	K	Polymorphism	-
P69905	HBA_HUMAN	122	V	M	Polymorphism	-
P69905	HBA_HUMAN	117	E	A	Polymorphism	-
P69905	HBA_HUMAN	64	A	D	Polymorphism	-
P69905	HBA_HUMAN	2	V	E	Polymorphism	-
P69905	HBA_HUMAN	17	K	M	Polymorphism	-
P69905	HBA_HUMAN	7	D	V	Polymorphism	-
P69905	HBA_HUMAN	82	S	C	Polymorphism	-
P69905	HBA_HUMAN	27	A	V	Polymorphism	-
P69905	HBA_HUMAN	121	A	E	Polymorphism	-
P69905	HBA_HUMAN	93	R	Q	Polymorphism	-
P69905	HBA_HUMAN	76	D	A	Polymorphism	-
P69905	HBA_HUMAN	78	P	R	Polymorphism	-
P69905	HBA_HUMAN	75	D	N	Polymorphism	-
P69905	HBA_HUMAN	59	H	Y	Polymorphism	-
P69905	HBA_HUMAN	38	P	R	Polymorphism	-
P69905	HBA_HUMAN	116	A	D	Polymorphism	-
P69905	HBA_HUMAN	49	L	R	Polymorphism	-
P69905	HBA_HUMAN	130	L	P	Polymorphism	-
P69905	HBA_HUMAN	86	D	Y	Polymorphism	-
P69905	HBA_HUMAN	48	D	A	Polymorphism	-
P69905	HBA_HUMAN	131	A	P	Polymorphism	-
P69905	HBA_HUMAN	48	D	H	Polymorphism	-
P69905	HBA_HUMAN	45	P	R	Polymorphism	-
P69905	HBA_HUMAN	81	L	R	Polymorphism	-
P69905	HBA_HUMAN	48	D	G	Polymorphism	-
P69905	HBA_HUMAN	45	P	L	Polymorphism	-
P69905	HBA_HUMAN	46	H	Q	Polymorphism	-
P69905	HBA_HUMAN	75	D	A	Polymorphism	-
P69905	HBA_HUMAN	42	T	S	Polymorphism	-
P78310	CXAR_HUMAN	323	S	R	Polymorphism	-
P78312	F193A_HUMAN	192	M	V	Polymorphism	-
P78312	F193A_HUMAN	1115	I	V	Polymorphism	-
P78314	3BP2_HUMAN	418	P	H	Disease	Cherubism (CRBM) [MIM:118400]
P78314	3BP2_HUMAN	415	R	Q	Disease	Cherubism (CRBM) [MIM:118400]
P78314	3BP2_HUMAN	420	G	E	Disease	Cherubism (CRBM) [MIM:118400]
P78314	3BP2_HUMAN	415	R	P	Disease	Cherubism (CRBM) [MIM:118400]
P78314	3BP2_HUMAN	420	G	R	Disease	Cherubism (CRBM) [MIM:118400]
P78314	3BP2_HUMAN	418	P	L	Disease	Cherubism (CRBM) [MIM:118400]
P78314	3BP2_HUMAN	418	P	R	Disease	Cherubism (CRBM) [MIM:118400]
P78316	NOP14_HUMAN	380	L	S	Polymorphism	-
P78316	NOP14_HUMAN	716	Q	R	Polymorphism	-
P78318	IGBP1_HUMAN	20	R	K	Polymorphism	-
P78324	SHPS1_HUMAN	20	A	P	Polymorphism	-
P78324	SHPS1_HUMAN	190	E	Q	Polymorphism	-
P78324	SHPS1_HUMAN	353	P	L	Polymorphism	-
P78324	SHPS1_HUMAN	95	D	E	Polymorphism	-
P78324	SHPS1_HUMAN	263	V	M	Polymorphism	-
P78324	SHPS1_HUMAN	339	P	S	Polymorphism	-
P78324	SHPS1_HUMAN	54	R	H	Polymorphism	-
P78324	SHPS1_HUMAN	77	E	K	Polymorphism	-
P78324	SHPS1_HUMAN	357	G	S	Polymorphism	-
P78324	SHPS1_HUMAN	96	L	S	Polymorphism	-
P78324	SHPS1_HUMAN	68	W	R	Polymorphism	-
P78324	SHPS1_HUMAN	75	G	A	Polymorphism	-
P78324	SHPS1_HUMAN	261	Q	L	Polymorphism	-
P78324	SHPS1_HUMAN	236	Q	R	Polymorphism	-
P78324	SHPS1_HUMAN	163	Q	D	Unclassified	-
P78324	SHPS1_HUMAN	134	F	L	Polymorphism	-
P78324	SHPS1_HUMAN	271	V	I	Polymorphism	-
P78324	SHPS1_HUMAN	302	V	L	Polymorphism	-
P78324	SHPS1_HUMAN	132	V	T	Polymorphism	-
P78324	SHPS1_HUMAN	61	I	N	Polymorphism	-
P78324	SHPS1_HUMAN	57	A	V	Polymorphism	-
P78324	SHPS1_HUMAN	486	A	L	Unclassified	-
P78324	SHPS1_HUMAN	460	P	L	Polymorphism	-
P78324	SHPS1_HUMAN	109	G	S	Polymorphism	-
P78324	SHPS1_HUMAN	50	T	S	Polymorphism	-
P78324	SHPS1_HUMAN	443	Q	R	Polymorphism	-
P78324	SHPS1_HUMAN	389	A	E	Polymorphism	-
P78324	SHPS1_HUMAN	181	T	S	Polymorphism	-
P78324	SHPS1_HUMAN	214	K	N	Polymorphism	-
P78324	SHPS1_HUMAN	220	E	G	Polymorphism	-
P78324	SHPS1_HUMAN	100	N	E	Polymorphism	-
P78324	SHPS1_HUMAN	81	N	H	Polymorphism	-
P78324	SHPS1_HUMAN	52	T	I	Polymorphism	-
P78324	SHPS1_HUMAN	276	R	T	Polymorphism	-
P78324	SHPS1_HUMAN	491	P	L	Polymorphism	-
P78324	SHPS1_HUMAN	40	D	E	Polymorphism	-
P78324	SHPS1_HUMAN	107	R	S	Polymorphism	-
P78324	SHPS1_HUMAN	222	V	I	Polymorphism	-
P78324	SHPS1_HUMAN	125	R	Q	Polymorphism	-
P78324	SHPS1_HUMAN	370	R	Q	Polymorphism	-
P78324	SHPS1_HUMAN	251	R	Q	Polymorphism	-
P78324	SHPS1_HUMAN	44	L	S	Polymorphism	-
P78324	SHPS1_HUMAN	367	S	P	Polymorphism	-
P78325	ADAM8_HUMAN	35	W	R	Polymorphism	-
P78325	ADAM8_HUMAN	775	I	T	Polymorphism	-
P78325	ADAM8_HUMAN	433	R	C	Polymorphism	-
P78325	ADAM8_HUMAN	657	F	L	Polymorphism	-
P78325	ADAM8_HUMAN	189	R	W	Polymorphism	-
P78325	ADAM8_HUMAN	101	G	R	Polymorphism	-
P78329	CP4F2_HUMAN	12	W	G	Polymorphism	-
P78329	CP4F2_HUMAN	269	A	D	Polymorphism	-
P78329	CP4F2_HUMAN	519	L	M	Polymorphism	-
P78329	CP4F2_HUMAN	7	S	Y	Polymorphism	-
P78329	CP4F2_HUMAN	433	V	M	Polymorphism	-
P78329	CP4F2_HUMAN	185	G	V	Polymorphism	-
P78330	SERB_HUMAN	32	D	N	Disease	Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]
P78330	SERB_HUMAN	52	M	T	Disease	Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]
P78332	RBM6_HUMAN	721	N	T	Polymorphism	-
P78332	RBM6_HUMAN	353	S	F	Unclassified	A non-small cell lung cancer cell line
P78333	GPC5_HUMAN	155	A	V	Polymorphism	-
P78334	GBRE_HUMAN	102	S	A	Polymorphism	-
P78334	GBRE_HUMAN	9	L	F	Polymorphism	-
P78337	PITX1_HUMAN	299	G	A	Polymorphism	-
P78337	PITX1_HUMAN	130	E	K	Disease	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800]
P78344	IF4G2_HUMAN	236	L	M	Polymorphism	-
P78345	RPP38_HUMAN	114	A	V	Polymorphism	-
P78345	RPP38_HUMAN	250	R	G	Polymorphism	-
P78345	RPP38_HUMAN	88	E	D	Polymorphism	-
P78345	RPP38_HUMAN	86	I	V	Polymorphism	-
P78345	RPP38_HUMAN	212	I	T	Polymorphism	-
P78345	RPP38_HUMAN	181	A	G	Polymorphism	-
P78345	RPP38_HUMAN	202	S	R	Polymorphism	-
P78346	RPP30_HUMAN	12	G	D	Polymorphism	-
P78347	GTF2I_HUMAN	174	L	V	Polymorphism	-
P78357	CNTP1_HUMAN	323	C	R	Disease	Lethal congenital contracture syndrome 7 (LCCS7) [MIM:616286]
P78357	CNTP1_HUMAN	50	P	Q	Disease	Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186]
P78357	CNTP1_HUMAN	388	R	P	Disease	Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186]
P78357	CNTP1_HUMAN	522	V	L	Polymorphism	-
P78357	CNTP1_HUMAN	764	R	C	Disease	Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186]
P78357	CNTP1_HUMAN	212	L	P	Disease	Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186]
P78357	CNTP1_HUMAN	714	R	P	Disease	Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186]
P78362	SRPK2_HUMAN	426	T	P	Polymorphism	-
P78362	SRPK2_HUMAN	486	S	F	Polymorphism	-
P78362	SRPK2_HUMAN	243	G	D	Unclassified	A glioblastoma multiforme sample
P78362	SRPK2_HUMAN	43	P	L	Polymorphism	-
P78362	SRPK2_HUMAN	608	S	N	Polymorphism	-
P78362	SRPK2_HUMAN	515	P	T	Polymorphism	-
P78362	SRPK2_HUMAN	615	L	I	Polymorphism	-
P78363	ABCA4_HUMAN	212	R	C	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	2146	G	D	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	1724	W	C	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	249	D	G	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2047	I	N	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	2107	R	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1652	Y	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2241	L	V	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2255	S	I	Polymorphism	-
P78363	ABCA4_HUMAN	1488	C	Y	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2149	R	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1253	T	M	Unclassified	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	75	C	G	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	336	S	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1388	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	72	G	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	762	A	E	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	1488	C	F	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	471	E	K	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	65	G	E	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1640	R	W	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	1696	S	N	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2263	R	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1108	R	H	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1532	D	N	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1430	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1300	R	Q	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	407	A	V	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	340	Y	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2216	A	V	Polymorphism	-
P78363	ABCA4_HUMAN	224	T	M	Unclassified	A breast cancer sample
P78363	ABCA4_HUMAN	2050	V	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1508	G	C	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	1525	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1443	R	H	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	68	P	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1562	I	T	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	1526	T	M	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	643	V	M	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	752	S	I	Polymorphism	-
P78363	ABCA4_HUMAN	96	N	H	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	445	S	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	60	A	T	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	24	R	H	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	192	A	T	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1578	G	R	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	1631	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1562	I	T	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	1129	R	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1886	G	E	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	333	R	W	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	636	Q	H	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	635	Q	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1250	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	58	N	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	212	R	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	767	V	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2150	C	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	873	F	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	764	C	Y	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1038	A	V	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	471	E	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1440	F	V	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1598	A	D	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	1898	R	H	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	328	E	V	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	309	P	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1108	R	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2137	C	Y	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	2060	L	R	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	765	S	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2059	G	A	Polymorphism	-
P78363	ABCA4_HUMAN	2077	R	G	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2150	C	Y	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	2077	R	W	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1794	A	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2150	C	Y	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1885	E	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	247	N	S	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	380	N	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	339	W	G	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	1703	Q	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	407	A	V	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	54	C	Y	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	901	T	A	Polymorphism	-
P78363	ABCA4_HUMAN	943	R	Q	Polymorphism	-
P78363	ABCA4_HUMAN	1036	E	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1729	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1896	V	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1537	T	M	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	897	T	I	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1948	P	L	Polymorphism	-
P78363	ABCA4_HUMAN	1513	Q	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	849	V	A	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1838	H	Y	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	68	P	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	60	A	E	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2071	Y	F	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1971	L	R	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	2106	R	C	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	2139	R	W	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	716	T	M	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	550	G	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	537	R	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	220	R	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	423	H	R	Polymorphism	-
P78363	ABCA4_HUMAN	1970	L	F	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	1805	N	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	300	T	N	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	11	L	P	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	824	I	T	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	797	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2030	R	Q	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2096	E	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1921	V	M	Polymorphism	-
P78363	ABCA4_HUMAN	686	L	S	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	965	N	S	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	931	V	M	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	230	C	S	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	914	H	R	Polymorphism	-
P78363	ABCA4_HUMAN	607	G	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1399	E	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	96	N	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	765	S	N	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2038	R	W	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	653	R	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2131	E	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2106	R	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	607	G	W	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	156	I	V	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	244	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1689	S	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	549	A	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1031	K	E	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1898	R	H	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1820	R	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1640	R	W	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1148	K	T	Polymorphism	-
P78363	ABCA4_HUMAN	1122	E	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1112	T	N	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1019	T	M	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1517	R	S	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	552	V	I	Polymorphism	-
P78363	ABCA4_HUMAN	957	Q	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	525	F	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1817	E	D	Polymorphism	-
P78363	ABCA4_HUMAN	2027	L	F	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1705	R	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1038	A	V	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	972	T	N	Unclassified	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1108	R	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2128	H	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1562	I	T	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	991	G	R	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	2107	R	H	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1940	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	602	R	Q	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	935	V	A	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2030	R	Q	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	1097	R	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1884	V	E	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1977	G	S	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	974	S	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1087	E	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	978	G	C	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	65	G	E	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	1940	L	P	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	1072	V	A	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	989	V	A	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	851	G	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	818	G	E	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	1490	C	Y	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1428	T	M	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	1799	N	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1129	R	L	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	854	A	T	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1640	R	Q	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1868	N	I	Polymorphism	-
P78363	ABCA4_HUMAN	943	R	W	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1122	E	K	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	1562	I	T	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1488	C	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	846	D	H	Polymorphism	-
P78363	ABCA4_HUMAN	1488	C	R	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	1091	G	E	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	1440	F	S	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	863	G	A	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	863	G	A	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	1961	G	E	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1843	R	W	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	959	T	I	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1733	M	T	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2177	D	N	Polymorphism	-
P78363	ABCA4_HUMAN	1640	R	Q	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	943	R	W	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	1071	S	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1490	C	Y	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	1108	R	C	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	541	L	P	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	1408	W	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	863	G	A	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	1780	P	A	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	77	V	E	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1038	A	V	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	1977	G	S	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1961	G	E	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	60	A	V	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1975	G	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2027	L	F	Disease	Fundus flavimaculatus (FFM) [MIM:248200]
P78363	ABCA4_HUMAN	2160	K	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1429	V	A	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1970	L	F	Disease	Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
P78363	ABCA4_HUMAN	1439	G	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1380	P	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	821	W	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	2229	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1763	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	190	Q	H	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1693	V	I	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1019	T	A	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1846	I	T	Polymorphism	-
P78363	ABCA4_HUMAN	971	T	N	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1087	E	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1408	W	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1314	P	T	Polymorphism	-
P78363	ABCA4_HUMAN	1022	E	K	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	645	D	N	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1736	S	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	818	G	E	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1204	D	N	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1014	L	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	602	R	W	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1637	A	T	Polymorphism	-
P78363	ABCA4_HUMAN	2035	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1055	R	W	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	541	L	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	206	S	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1129	R	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	572	R	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	608	F	I	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1433	V	I	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1776	P	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1748	G	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1063	S	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	18	R	W	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1486	P	L	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	643	V	G	Polymorphism	-
P78363	ABCA4_HUMAN	523	D	E	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	100	S	P	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	572	R	Q	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1201	L	R	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	1406	H	Y	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
P78363	ABCA4_HUMAN	541	L	P	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78363	ABCA4_HUMAN	152	R	Q	Polymorphism	-
P78363	ABCA4_HUMAN	212	R	H	Polymorphism	-
P78363	ABCA4_HUMAN	1640	R	Q	Disease	Cone-rod dystrophy 3 (CORD3) [MIM:604116]
P78364	PHC1_HUMAN	693	T	A	Polymorphism	-
P78364	PHC1_HUMAN	992	L	F	Disease	Microcephaly 11, primary, autosomal recessive (MCPH11) [MIM:615414]
P78368	KC1G2_HUMAN	217	R	C	Polymorphism	-
P78368	KC1G2_HUMAN	189	F	L	Polymorphism	-
P78368	KC1G2_HUMAN	207	R	S	Polymorphism	-
P78368	KC1G2_HUMAN	223	T	M	Polymorphism	-
P78368	KC1G2_HUMAN	196	I	T	Polymorphism	-
P78368	KC1G2_HUMAN	208	E	Q	Polymorphism	-
P78368	KC1G2_HUMAN	206	Y	H	Polymorphism	-
P78368	KC1G2_HUMAN	194	E	G	Polymorphism	-
P78368	KC1G2_HUMAN	206	Y	C	Polymorphism	-
P78369	CLD10_HUMAN	48	N	K	Disease	HELIX syndrome (HELIX) [MIM:617671]
P78369	CLD10_HUMAN	131	S	L	Disease	HELIX syndrome (HELIX) [MIM:617671]
P78380	OLR1_HUMAN	167	K	N	Polymorphism	-
P78381	S35A2_HUMAN	331	V	I	Disease	Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896]
P78381	S35A2_HUMAN	213	S	F	Disease	Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896]
P78381	S35A2_HUMAN	258	V	M	Unclassified	-
P78381	S35A2_HUMAN	252	W	C	Unclassified	A breast cancer sample
P78383	S35B1_HUMAN	81	R	H	Polymorphism	-
P78385	KRT83_HUMAN	149	R	C	Polymorphism	-
P78385	KRT83_HUMAN	407	E	K	Disease	Monilethrix (MNLIX) [MIM:158000]
P78385	KRT83_HUMAN	418	E	K	Disease	Monilethrix (MNLIX) [MIM:158000]
P78385	KRT83_HUMAN	493	H	Y	Polymorphism	-
P78385	KRT83_HUMAN	279	I	M	Polymorphism	-
P78386	KRT85_HUMAN	78	R	H	Disease	Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032]
P78386	KRT85_HUMAN	155	W	L	Polymorphism	-
P78395	PRAME_HUMAN	218	M	V	Polymorphism	-
P78395	PRAME_HUMAN	7	W	R	Polymorphism	-
P78410	BT3A2_HUMAN	181	N	D	Polymorphism	-
P78410	BT3A2_HUMAN	211	R	K	Polymorphism	-
P78410	BT3A2_HUMAN	167	R	T	Polymorphism	-
P78410	BT3A2_HUMAN	307	S	N	Polymorphism	-
P78410	BT3A2_HUMAN	182	A	T	Polymorphism	-
P78411	IRX5_HUMAN	150	A	P	Disease	Hamamy syndrome (HMMS) [MIM:611174]
P78411	IRX5_HUMAN	166	N	K	Disease	Hamamy syndrome (HMMS) [MIM:611174]
P78413	IRX4_HUMAN	119	A	T	Polymorphism	-
P78415	IRX3_HUMAN	479	Q	H	Polymorphism	-
P78415	IRX3_HUMAN	422	L	P	Polymorphism	-
P78417	GSTO1_HUMAN	32	C	Y	Polymorphism	-
P78417	GSTO1_HUMAN	140	A	D	Polymorphism	-
P78417	GSTO1_HUMAN	86	S	C	Polymorphism	-
P78417	GSTO1_HUMAN	208	E	K	Polymorphism	-
P78417	GSTO1_HUMAN	236	A	V	Polymorphism	-
P78423	X3CL1_HUMAN	240	A	V	Polymorphism	-
P78424	PO6F2_HUMAN	500	L	M	Polymorphism	-
P78424	PO6F2_HUMAN	192	Q	H	Disease	Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]
P78424	PO6F2_HUMAN	639	E	K	Polymorphism	-
P78424	PO6F2_HUMAN	199	P	L	Polymorphism	-
P78504	JAG1_HUMAN	181	Y	N	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	504	N	S	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	1104	H	Q	Unclassified	-
P78504	JAG1_HUMAN	902	C	S	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	224	W	C	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	921	L	P	Polymorphism	-
P78504	JAG1_HUMAN	163	P	R	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	937	R	Q	Polymorphism	-
P78504	JAG1_HUMAN	53	N	D	Unclassified	-
P78504	JAG1_HUMAN	65	K	M	Unclassified	-
P78504	JAG1_HUMAN	269	P	L	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	436	C	W	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	184	R	C	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	818	R	K	Polymorphism	-
P78504	JAG1_HUMAN	913	S	R	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	187	C	Y	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	252	R	G	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	75	F	S	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	92	C	R	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	79	L	H	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	889	R	Q	Unclassified	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	271	C	R	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	871	P	R	Polymorphism	-
P78504	JAG1_HUMAN	33	G	V	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	203	R	K	Unclassified	-
P78504	JAG1_HUMAN	39	I	S	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	123	P	S	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	78	C	S	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	693	C	Y	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	256	G	S	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	92	C	Y	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	184	R	G	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	911	C	Y	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	908	H	Q	Unclassified	-
P78504	JAG1_HUMAN	40	L	P	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	127	A	T	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	184	R	H	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	152	I	T	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	120	I	N	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	1213	R	Q	Polymorphism	-
P78504	JAG1_HUMAN	664	C	S	Unclassified	-
P78504	JAG1_HUMAN	37	L	S	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	714	C	Y	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	129	P	R	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	163	P	L	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	220	C	F	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	740	C	R	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	753	C	R	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	146	V	I	Polymorphism	-
P78504	JAG1_HUMAN	155	A	P	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	229	C	G	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	690	Y	D	Unclassified	-
P78504	JAG1_HUMAN	274	G	D	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P78504	JAG1_HUMAN	184	R	L	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	33	G	D	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	284	C	F	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	731	C	S	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	31	A	V	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	234	C	Y	Disease	Deafness, congenital heart defects, and posterior embryotoxon (DCHE) [MIM:617992]
P78504	JAG1_HUMAN	810	P	L	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
P78504	JAG1_HUMAN	229	C	Y	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	187	C	S	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	45	V	L	Polymorphism	-
P78504	JAG1_HUMAN	288	W	C	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	386	G	R	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	33	G	S	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504	JAG1_HUMAN	438	C	F	Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]
P78508	KCJ10_HUMAN	129	I	V	Disease	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
P78508	KCJ10_HUMAN	167	A	V	Disease	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
P78508	KCJ10_HUMAN	140	C	R	Disease	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
P78508	KCJ10_HUMAN	77	G	R	Disease	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
P78508	KCJ10_HUMAN	271	R	C	Polymorphism	-
P78508	KCJ10_HUMAN	271	R	H	Polymorphism	-
P78508	KCJ10_HUMAN	164	T	I	Disease	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
P78508	KCJ10_HUMAN	65	R	P	Disease	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
P78508	KCJ10_HUMAN	68	L	P	Disease	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
P78508	KCJ10_HUMAN	297	R	C	Disease	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
P78509	RELN_HUMAN	2783	G	C	Disease	Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
P78509	RELN_HUMAN	672	P	L	Disease	Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
P78509	RELN_HUMAN	844	P	L	Disease	Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
P78509	RELN_HUMAN	978	T	A	Polymorphism	-
P78509	RELN_HUMAN	723	Y	C	Disease	Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
P78509	RELN_HUMAN	763	D	G	Disease	Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
P78509	RELN_HUMAN	997	L	V	Polymorphism	-
P78509	RELN_HUMAN	798	H	N	Disease	Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
P78509	RELN_HUMAN	3176	E	K	Disease	Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
P78509	RELN_HUMAN	1703	P	R	Polymorphism	-
P78524	ST5_HUMAN	399	D	E	Polymorphism	-
P78524	ST5_HUMAN	620	I	T	Polymorphism	-
P78524	ST5_HUMAN	316	K	N	Polymorphism	-
P78524	ST5_HUMAN	657	S	F	Polymorphism	-
P78524	ST5_HUMAN	774	S	G	Polymorphism	-
P78527	PRKDC_HUMAN	2023	S	P	Polymorphism	-
P78527	PRKDC_HUMAN	2810	S	N	Unclassified	A metastatic melanoma sample
P78527	PRKDC_HUMAN	2598	R	Q	Polymorphism	-
P78527	PRKDC_HUMAN	1190	L	V	Polymorphism	-
P78527	PRKDC_HUMAN	3800	L	I	Polymorphism	-
P78527	PRKDC_HUMAN	2702	K	E	Polymorphism	-
P78527	PRKDC_HUMAN	1237	A	T	Polymorphism	-
P78527	PRKDC_HUMAN	263	K	N	Unclassified	A lung adenocarcinoma sample
P78527	PRKDC_HUMAN	420	V	I	Polymorphism	-
P78527	PRKDC_HUMAN	1136	R	H	Unclassified	A colorectal adenocarcinoma sample
P78527	PRKDC_HUMAN	3574	A	V	Disease	Immunodeficiency 26 with or without neurologic abnormalities (IMD26) [MIM:615966]
P78527	PRKDC_HUMAN	500	G	S	Unclassified	A metastatic melanoma sample
P78527	PRKDC_HUMAN	1603	Q	H	Polymorphism	-
P78527	PRKDC_HUMAN	3836	P	L	Polymorphism	-
P78527	PRKDC_HUMAN	3459	N	S	Polymorphism	-
P78527	PRKDC_HUMAN	605	T	S	Polymorphism	-
P78527	PRKDC_HUMAN	649	F	L	Polymorphism	-
P78527	PRKDC_HUMAN	3932	M	V	Polymorphism	-
P78527	PRKDC_HUMAN	3198	T	S	Polymorphism	-
P78527	PRKDC_HUMAN	3085	E	D	Polymorphism	-
P78527	PRKDC_HUMAN	3062	L	R	Disease	Immunodeficiency 26 with or without neurologic abnormalities (IMD26) [MIM:615966]
P78527	PRKDC_HUMAN	1314	G	V	Polymorphism	-
P78527	PRKDC_HUMAN	3562	L	M	Polymorphism	-
P78527	PRKDC_HUMAN	3702	P	L	Polymorphism	-
P78527	PRKDC_HUMAN	1619	A	G	Polymorphism	-
P78527	PRKDC_HUMAN	1279	L	F	Polymorphism	-
P78527	PRKDC_HUMAN	3201	P	S	Polymorphism	-
P78527	PRKDC_HUMAN	3149	G	D	Polymorphism	-
P78527	PRKDC_HUMAN	3937	V	M	Polymorphism	-
P78527	PRKDC_HUMAN	2941	G	A	Unclassified	A lung neuroendocrine carcinoma sample
P78527	PRKDC_HUMAN	6	A	S	Polymorphism	-
P78527	PRKDC_HUMAN	2095	A	V	Polymorphism	-
P78527	PRKDC_HUMAN	695	P	S	Polymorphism	-
P78527	PRKDC_HUMAN	680	I	M	Polymorphism	-
P78527	PRKDC_HUMAN	3936	G	S	Polymorphism	-
P78527	PRKDC_HUMAN	333	M	I	Polymorphism	-
P78527	PRKDC_HUMAN	1071	N	S	Polymorphism	-
P78527	PRKDC_HUMAN	1588	D	V	Polymorphism	-
P78527	PRKDC_HUMAN	1680	A	V	Unclassified	A metastatic melanoma sample
P78527	PRKDC_HUMAN	3434	I	T	Polymorphism	-
P78527	PRKDC_HUMAN	1447	R	M	Unclassified	A lung squamous cell carcinoma sample
P78527	PRKDC_HUMAN	3584	L	F	Polymorphism	-
P78527	PRKDC_HUMAN	2899	R	C	Polymorphism	-
P78527	PRKDC_HUMAN	3404	G	E	Polymorphism	-
P78536	ADA17_HUMAN	202	R	G	Polymorphism	-
P78536	ADA17_HUMAN	162	K	E	Polymorphism	-
P78539	SRPX_HUMAN	413	S	F	Polymorphism	-
P78539	SRPX_HUMAN	225	P	S	Polymorphism	-
P78540	ARGI2_HUMAN	240	G	R	Polymorphism	-
P78543	BTG2_HUMAN	153	V	M	Polymorphism	-
P78545	ELF3_HUMAN	317	Q	K	Polymorphism	-
P78549	NTH_HUMAN	21	R	W	Polymorphism	-
P78549	NTH_HUMAN	239	D	Y	Polymorphism	-
P78549	NTH_HUMAN	33	R	K	Polymorphism	-
P78549	NTH_HUMAN	176	I	T	Polymorphism	-
P78549	NTH_HUMAN	234	S	L	Polymorphism	-
P78556	CCL20_HUMAN	47	V	M	Polymorphism	-
P78559	MAP1A_HUMAN	1461	D	N	Polymorphism	-
P78559	MAP1A_HUMAN	2056	S	R	Polymorphism	-
P78559	MAP1A_HUMAN	1650	W	C	Polymorphism	-
P78559	MAP1A_HUMAN	1102	I	T	Polymorphism	-
P78559	MAP1A_HUMAN	336	K	T	Polymorphism	-
P78559	MAP1A_HUMAN	2465	D	N	Polymorphism	-
P78559	MAP1A_HUMAN	2327	D	V	Polymorphism	-
P78559	MAP1A_HUMAN	353	A	S	Polymorphism	-
P78559	MAP1A_HUMAN	485	K	Q	Polymorphism	-
P78559	MAP1A_HUMAN	1605	K	N	Polymorphism	-
P78559	MAP1A_HUMAN	2405	T	I	Polymorphism	-
P78559	MAP1A_HUMAN	1245	D	N	Polymorphism	-
P78559	MAP1A_HUMAN	830	T	A	Polymorphism	-
P78559	MAP1A_HUMAN	72	F	L	Polymorphism	-
P78559	MAP1A_HUMAN	2214	H	Y	Polymorphism	-
P78559	MAP1A_HUMAN	1078	N	S	Polymorphism	-
P78559	MAP1A_HUMAN	1912	A	V	Polymorphism	-
P78559	MAP1A_HUMAN	1881	A	P	Polymorphism	-
P78559	MAP1A_HUMAN	335	A	S	Polymorphism	-
P78559	MAP1A_HUMAN	2461	I	T	Polymorphism	-
P78559	MAP1A_HUMAN	1553	Q	H	Polymorphism	-
P78559	MAP1A_HUMAN	1185	R	H	Polymorphism	-
P78559	MAP1A_HUMAN	1938	S	R	Polymorphism	-
P78559	MAP1A_HUMAN	1827	P	A	Polymorphism	-
P78559	MAP1A_HUMAN	1690	A	S	Polymorphism	-
P78559	MAP1A_HUMAN	364	K	Q	Polymorphism	-
P78559	MAP1A_HUMAN	357	A	S	Polymorphism	-
P78560	CRADD_HUMAN	128	G	R	Disease	Mental retardation, autosomal recessive 34, with variant lissencephaly (MRT34) [MIM:614499]
P78562	PHEX_HUMAN	749	W	R	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	534	P	L	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	85	C	F	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	166	R	C	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	253	M	I	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	530	W	C	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	138	L	P	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	733	C	S	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	579	G	R	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	621	Q	R	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	720	A	T	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	85	C	Y	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	80	F	S	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	141	S	P	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	142	C	F	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	579	G	V	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	746	C	W	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	693	C	Y	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	77	C	S	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	680	N	K	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	651	R	P	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	317	Y	F	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	731	F	Y	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	237	D	G	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	555	L	P	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	567	R	P	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	573	A	D	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	85	C	R	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	160	L	R	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562	PHEX_HUMAN	252	F	S	Disease	Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78563	RED1_HUMAN	224	V	A	Polymorphism	-
P79483	DRB3_HUMAN	66	F	L	Polymorphism	-
P79483	DRB3_HUMAN	178	Q	H	Polymorphism	-
P79483	DRB3_HUMAN	67	L	V	Polymorphism	-
P79483	DRB3_HUMAN	57	D	E	Polymorphism	-
P79483	DRB3_HUMAN	218	R	S	Polymorphism	-
P79483	DRB3_HUMAN	67	L	A	Polymorphism	-
P79483	DRB3_HUMAN	89	S	H	Polymorphism	-
P79483	DRB3_HUMAN	66	F	Y	Polymorphism	-
P79483	DRB3_HUMAN	114	V	A	Polymorphism	-
P79483	DRB3_HUMAN	40	R	C	Polymorphism	-
P79483	DRB3_HUMAN	103	R	Q	Polymorphism	-
P79483	DRB3_HUMAN	55	Y	F	Polymorphism	-
P79483	DRB3_HUMAN	102	G	A	Polymorphism	-
P79483	DRB3_HUMAN	55	Y	L	Polymorphism	-
P79483	DRB3_HUMAN	212	A	P	Polymorphism	-
P79483	DRB3_HUMAN	169	A	T	Polymorphism	-
P79483	DRB3_HUMAN	96	L	F	Polymorphism	-
P79483	DRB3_HUMAN	89	S	Y	Polymorphism	-
P79483	DRB3_HUMAN	113	G	R	Polymorphism	-
P79483	DRB3_HUMAN	58	R	I	Polymorphism	-
P79483	DRB3_HUMAN	87	A	E	Polymorphism	-
P79483	DRB3_HUMAN	40	R	S	Polymorphism	-
P79483	DRB3_HUMAN	86	V	D	Polymorphism	-
P79483	DRB3_HUMAN	86	V	A	Polymorphism	-
P79483	DRB3_HUMAN	115	G	A	Polymorphism	-
P79483	DRB3_HUMAN	37	L	S	Polymorphism	-
P79483	DRB3_HUMAN	38	E	Q	Polymorphism	-
P79483	DRB3_HUMAN	40	R	L	Polymorphism	-
P79483	DRB3_HUMAN	86	V	S	Polymorphism	-
P79483	DRB3_HUMAN	193	V	F	Polymorphism	-
P79483	DRB3_HUMAN	39	L	Y	Polymorphism	-
P79483	DRB3_HUMAN	115	G	V	Polymorphism	-
P79483	DRB3_HUMAN	57	D	N	Polymorphism	-
P79483	DRB3_HUMAN	66	F	S	Polymorphism	-
P79483	DRB3_HUMAN	80	T	R	Polymorphism	-
P79483	DRB3_HUMAN	106	N	T	Polymorphism	-
P79483	DRB3_HUMAN	66	F	N	Polymorphism	-
P79483	DRB3_HUMAN	41	K	T	Polymorphism	-
P79483	DRB3_HUMAN	59	Y	H	Polymorphism	-
P79483	DRB3_HUMAN	84	R	L	Polymorphism	-
P79483	DRB3_HUMAN	68	R	S	Polymorphism	-
P79483	DRB3_HUMAN	96	L	I	Polymorphism	-
P79522	PRR3_HUMAN	61	G	S	Polymorphism	-
P80075	CCL8_HUMAN	69	K	Q	Polymorphism	-
P80075	CCL8_HUMAN	14	A	V	Polymorphism	-
P80108	PHLD_HUMAN	30	V	I	Polymorphism	-
P80108	PHLD_HUMAN	698	T	I	Polymorphism	-
P80108	PHLD_HUMAN	275	D	E	Polymorphism	-
P80108	PHLD_HUMAN	350	I	V	Polymorphism	-
P80108	PHLD_HUMAN	694	M	V	Polymorphism	-
P80108	PHLD_HUMAN	17	L	V	Polymorphism	-
P80108	PHLD_HUMAN	461	V	M	Polymorphism	-
P80108	PHLD_HUMAN	396	G	S	Polymorphism	-
P80192	M3K9_HUMAN	467	R	C	Unclassified	A gastric adenocarcinoma sample
P80192	M3K9_HUMAN	497	R	Q	Polymorphism	-
P80192	M3K9_HUMAN	246	A	V	Unclassified	A metastatic melanoma sample
P80192	M3K9_HUMAN	646	Y	C	Polymorphism	-
P80217	IN35_HUMAN	126	M	V	Polymorphism	-
P80303	NUCB2_HUMAN	338	Q	E	Polymorphism	-
P80365	DHI2_HUMAN	147	R	H	Polymorphism	-
P80365	DHI2_HUMAN	237	A	V	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	279	R	C	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	250	L	R	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	180	S	F	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	208	R	H	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	227	P	L	Polymorphism	-
P80365	DHI2_HUMAN	337	R	C	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	328	A	V	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	186	R	C	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	338	Y	H	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	213	R	C	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	179	L	R	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	223	D	N	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	208	R	C	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365	DHI2_HUMAN	244	D	N	Disease	Apparent mineralocorticoid excess (AME) [MIM:218030]
P80370	DLK1_HUMAN	73	Q	L	Polymorphism	-
P80370	DLK1_HUMAN	108	D	G	Polymorphism	-
P80370	DLK1_HUMAN	104	V	M	Polymorphism	-
P80370	DLK1_HUMAN	260	S	N	Polymorphism	-
P80370	DLK1_HUMAN	101	R	G	Polymorphism	-
P80404	GABT_HUMAN	220	R	K	Disease	GABA transaminase deficiency (GABATD) [MIM:613163]
P80404	GABT_HUMAN	56	Q	R	Polymorphism	-
P80723	BASP1_HUMAN	76	A	V	Polymorphism	-
P81133	SIM1_HUMAN	352	P	T	Polymorphism	-
P81133	SIM1_HUMAN	175	L	F	Polymorphism	-
P81133	SIM1_HUMAN	371	A	V	Polymorphism	-
P81172	HEPC_HUMAN	70	C	R	Disease	Hemochromatosis 2B (HFE2B) [MIM:613313]
P81172	HEPC_HUMAN	71	G	D	Disease	Hemochromatosis 2B (HFE2B) [MIM:613313]
P81172	HEPC_HUMAN	59	R	G	Disease	Hemochromatosis 2B (HFE2B) [MIM:613313]
P81172	HEPC_HUMAN	78	C	Y	Disease	Hemochromatosis 2B (HFE2B) [MIM:613313]
P81408	F189B_HUMAN	549	R	H	Polymorphism	-
P81408	F189B_HUMAN	646	R	H	Polymorphism	-
P81408	F189B_HUMAN	358	S	F	Unclassified	A breast cancer sample
P82094	TMF1_HUMAN	448	C	Y	Polymorphism	-
P82094	TMF1_HUMAN	430	Q	E	Polymorphism	-
P82094	TMF1_HUMAN	798	D	H	Polymorphism	-
P82094	TMF1_HUMAN	682	Q	R	Polymorphism	-
P82251	BAT1_HUMAN	126	A	T	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	482	P	L	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	105	G	E	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	62	V	M	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	123	T	M	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	426	L	P	Unclassified	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	379	S	R	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	230	W	R	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	187	I	F	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	99	Y	H	Unclassified	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	182	A	T	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	324	A	E	Unclassified	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	382	A	T	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	63	G	R	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	51	S	F	Unclassified	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	70	A	V	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	52	P	L	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	401	K	E	Unclassified	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	170	V	M	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	316	A	V	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	105	G	R	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	223	L	M	Polymorphism	-
P82251	BAT1_HUMAN	195	G	R	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	331	A	V	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	333	R	Q	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	69	W	L	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	142	V	A	Polymorphism	-
P82251	BAT1_HUMAN	44	I	T	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	354	A	T	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	283	L	F	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	259	G	R	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	227	N	D	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	224	A	V	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	241	I	T	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	40	V	M	Unclassified	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	261	P	L	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	286	S	F	Unclassified	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	333	R	W	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	114	W	R	Unclassified	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	319	G	R	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	330	V	M	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	120	I	L	Unclassified	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	188	V	M	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	250	R	K	Disease	Cystinuria (CSNU) [MIM:220100]
P82251	BAT1_HUMAN	232	Y	C	Disease	Cystinuria (CSNU) [MIM:220100]
P82279	CRUM1_HUMAN	753	L	P	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	491	D	V	Unclassified	-
P82279	CRUM1_HUMAN	675	W	C	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1003	I	T	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	710	E	V	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	535	L	P	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	1071	L	P	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1321	C	S	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	584	D	Y	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	948	C	Y	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	564	D	Y	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	1107	L	P	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	989	I	T	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	769	R	H	Polymorphism	-
P82279	CRUM1_HUMAN	587	C	Y	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	740	S	F	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	333	G	D	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	1103	G	R	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1181	C	R	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1174	C	G	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1381	P	L	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	764	R	H	Unclassified	-
P82279	CRUM1_HUMAN	383	C	Y	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	745	T	M	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	948	C	Y	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	312	N	K	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1383	R	H	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	850	G	S	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	480	C	G	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	195	C	F	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	310	C	Y	Disease	-
P82279	CRUM1_HUMAN	161	A	V	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	162	V	M	Disease	Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]
P82279	CRUM1_HUMAN	959	G	S	Unclassified	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1041	M	T	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	836	P	T	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	578	V	E	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1332	C	F	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	679	Q	E	Polymorphism	-
P82279	CRUM1_HUMAN	1103	G	R	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	289	T	M	Polymorphism	-
P82279	CRUM1_HUMAN	45	C	W	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1223	C	S	Disease	-
P82279	CRUM1_HUMAN	1198	Y	C	Disease	-
P82279	CRUM1_HUMAN	1174	C	G	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	821	T	M	Polymorphism	-
P82279	CRUM1_HUMAN	1100	I	T	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	635	S	P	Unclassified	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	1365	A	D	Disease	-
P82279	CRUM1_HUMAN	745	T	M	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	250	C	W	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	488	F	S	Polymorphism	-
P82279	CRUM1_HUMAN	27	C	F	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1205	G	R	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	894	N	S	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1025	S	N	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	850	G	S	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	1161	Y	C	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	764	R	C	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	901	V	I	Unclassified	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	681	C	Y	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	438	C	Y	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	534	K	N	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1100	I	R	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	1107	L	R	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1218	C	F	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	454	G	R	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	1331	R	H	Polymorphism	-
P82279	CRUM1_HUMAN	1025	S	I	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	905	R	Q	Polymorphism	-
P82279	CRUM1_HUMAN	769	R	Q	Polymorphism	-
P82279	CRUM1_HUMAN	891	C	G	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1099	T	K	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	222	E	K	Polymorphism	-
P82279	CRUM1_HUMAN	433	Y	C	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	939	C	Y	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	1305	P	L	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	157	C	S	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	144	F	V	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	852	I	T	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	837	D	H	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1317	N	H	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	921	A	P	Disease	-
P82279	CRUM1_HUMAN	1031	D	N	Disease	-
P82279	CRUM1_HUMAN	710	E	Q	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	948	C	R	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	479	L	P	Disease	-
P82279	CRUM1_HUMAN	986	N	I	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	937	A	T	Unclassified	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	1354	A	T	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	205	I	T	Unclassified	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	741	M	T	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	846	G	R	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1012	L	S	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	764	R	C	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	1107	L	R	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82279	CRUM1_HUMAN	1165	C	W	Disease	Retinitis pigmentosa 12 (RP12) [MIM:600105]
P82279	CRUM1_HUMAN	480	C	R	Disease	Leber congenital amaurosis 8 (LCA8) [MIM:613835]
P82650	RT22_HUMAN	202	R	H	Unclassified	Ovarian dysgenesis 7 (ODG7) [MIM:618117]
P82650	RT22_HUMAN	170	R	H	Disease	Combined oxidative phosphorylation deficiency 5 (COXPD5) [MIM:611719]
P82650	RT22_HUMAN	135	R	Q	Unclassified	Ovarian dysgenesis 7 (ODG7) [MIM:618117]
P82673	RT35_HUMAN	6	L	I	Polymorphism	-
P82912	RT11_HUMAN	51	Q	H	Polymorphism	-
P82912	RT11_HUMAN	10	R	W	Polymorphism	-
P82921	RT21_HUMAN	50	C	R	Polymorphism	-
P82921	RT21_HUMAN	51	R	Q	Polymorphism	-
P82930	RT34_HUMAN	33	L	I	Polymorphism	-
P82930	RT34_HUMAN	13	E	K	Disease	Combined oxidative phosphorylation deficiency 32 (COXPD32) [MIM:617664]
P82933	RT09_HUMAN	13	S	L	Polymorphism	-
P82980	RET5_HUMAN	115	M	L	Polymorphism	-
P82980	RET5_HUMAN	70	E	Q	Polymorphism	-
P82980	RET5_HUMAN	19	D	N	Polymorphism	-
P82987	ATL3_HUMAN	1660	T	I	Polymorphism	-
P82987	ATL3_HUMAN	330	V	M	Unclassified	A colorectal cancer sample
P82987	ATL3_HUMAN	1679	R	H	Polymorphism	-
P82987	ATL3_HUMAN	713	G	R	Polymorphism	-
P82987	ATL3_HUMAN	587	R	H	Unclassified	A colorectal cancer sample
P82987	ATL3_HUMAN	1370	T	A	Polymorphism	-
P82987	ATL3_HUMAN	661	V	L	Polymorphism	-
P82987	ATL3_HUMAN	855	R	H	Polymorphism	-
P82987	ATL3_HUMAN	146	H	R	Polymorphism	-
P82987	ATL3_HUMAN	1315	A	E	Unclassified	A colorectal cancer sample
P82987	ATL3_HUMAN	869	L	F	Polymorphism	-
P82987	ATL3_HUMAN	290	L	V	Polymorphism	-
P82987	ATL3_HUMAN	855	R	C	Unclassified	A colorectal cancer sample
P82987	ATL3_HUMAN	1558	M	T	Polymorphism	-
P83111	LACTB_HUMAN	469	R	K	Polymorphism	-
P83436	COG7_HUMAN	605	T	M	Polymorphism	-
P83859	OX26_HUMAN	68	L	H	Polymorphism	-
P84022	SMAD3_HUMAN	261	T	I	Disease	Loeys-Dietz syndrome 3 (LDS3) [MIM:613795]
P84022	SMAD3_HUMAN	239	E	K	Disease	Loeys-Dietz syndrome 3 (LDS3) [MIM:613795]
P84022	SMAD3_HUMAN	393	P	L	Unclassified	A colorectal cancer sample
P84022	SMAD3_HUMAN	287	R	W	Disease	Loeys-Dietz syndrome 3 (LDS3) [MIM:613795]
P84022	SMAD3_HUMAN	170	I	V	Polymorphism	-
P84022	SMAD3_HUMAN	279	R	K	Disease	Loeys-Dietz syndrome 3 (LDS3) [MIM:613795]
P84022	SMAD3_HUMAN	112	A	V	Disease	Loeys-Dietz syndrome 3 (LDS3) [MIM:613795]
P84074	HPCA_HUMAN	190	A	T	Disease	Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500]
P84074	HPCA_HUMAN	71	T	N	Disease	Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500]
P84074	HPCA_HUMAN	21	E	D	Polymorphism	-
P84074	HPCA_HUMAN	75	N	K	Disease	Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500]
P84077	ARF1_HUMAN	127	K	E	Disease	Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185]
P84077	ARF1_HUMAN	99	R	H	Unclassified	Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185]
P84077	ARF1_HUMAN	35	Y	H	Disease	Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185]
P84101	SERF2_HUMAN	40	D	Y	Polymorphism	-
P84243	H33_HUMAN	37	K	M	Disease	-
P84243	H33_HUMAN	35	G	R	Disease	Glioma (GLM) [MIM:137800]
P84243	H33_HUMAN	35	G	W	Disease	-
P84243	H33_HUMAN	35	G	V	Disease	Glioma (GLM) [MIM:137800]
P84243	H33_HUMAN	28	K	M	Disease	Glioma (GLM) [MIM:137800]
P84550	SKOR1_HUMAN	73	K	Q	Polymorphism	-
P84996	ALEX_HUMAN	201	R	H	Unclassified	A colorectal cancer sample
P84996	ALEX_HUMAN	201	R	C	Unclassified	A colorectal cancer sample
P84996	ALEX_HUMAN	397	L	V	Disease	GNAS hyperfunction (GNASHYP) [MIM:139320]
P84996	ALEX_HUMAN	374	P	T	Disease	GNAS hyperfunction (GNASHYP) [MIM:139320]
P85298	RHG08_HUMAN	172	Y	C	Polymorphism	-
P85298	RHG08_HUMAN	415	P	L	Polymorphism	-
P85298	RHG08_HUMAN	418	P	R	Polymorphism	-
P85298	RHG08_HUMAN	333	G	R	Polymorphism	-
P85299	PRR5_HUMAN	243	V	M	Polymorphism	-
P98066	TSG6_HUMAN	144	Q	R	Polymorphism	-
P98073	ENTK_HUMAN	732	P	S	Polymorphism	-
P98073	ENTK_HUMAN	77	K	R	Polymorphism	-
P98073	ENTK_HUMAN	660	N	H	Polymorphism	-
P98073	ENTK_HUMAN	828	Y	C	Polymorphism	-
P98073	ENTK_HUMAN	134	E	Q	Polymorphism	-
P98073	ENTK_HUMAN	641	E	K	Polymorphism	-
P98073	ENTK_HUMAN	545	S	C	Polymorphism	-
P98073	ENTK_HUMAN	65	T	I	Polymorphism	-
P98082	DAB2_HUMAN	634	S	N	Polymorphism	-
P98082	DAB2_HUMAN	586	T	I	Polymorphism	-
P98088	MUC5A_HUMAN	5521	P	L	Polymorphism	-
P98095	FBLN2_HUMAN	387	N	T	Polymorphism	-
P98095	FBLN2_HUMAN	361	S	G	Polymorphism	-
P98095	FBLN2_HUMAN	1114	G	R	Polymorphism	-
P98095	FBLN2_HUMAN	144	H	R	Polymorphism	-
P98095	FBLN2_HUMAN	854	T	A	Polymorphism	-
P98095	FBLN2_HUMAN	45	I	V	Polymorphism	-
P98153	IDD_HUMAN	473	V	A	Polymorphism	-
P98155	VLDLR_HUMAN	613	R	H	Polymorphism	-
P98155	VLDLR_HUMAN	791	V	I	Polymorphism	-
P98155	VLDLR_HUMAN	379	E	K	Polymorphism	-
P98155	VLDLR_HUMAN	59	V	I	Polymorphism	-
P98155	VLDLR_HUMAN	561	I	V	Polymorphism	-
P98155	VLDLR_HUMAN	262	P	H	Polymorphism	-
P98155	VLDLR_HUMAN	464	L	I	Polymorphism	-
P98160	PGBM_HUMAN	1758	R	Q	Polymorphism	-
P98160	PGBM_HUMAN	3168	A	T	Polymorphism	-
P98160	PGBM_HUMAN	68	D	E	Polymorphism	-
P98160	PGBM_HUMAN	765	N	S	Polymorphism	-
P98160	PGBM_HUMAN	2980	L	H	Polymorphism	-
P98160	PGBM_HUMAN	303	L	H	Polymorphism	-
P98160	PGBM_HUMAN	3640	V	I	Polymorphism	-
P98160	PGBM_HUMAN	638	M	V	Polymorphism	-
P98160	PGBM_HUMAN	3632	R	Q	Polymorphism	-
P98160	PGBM_HUMAN	1919	R	C	Polymorphism	-
P98160	PGBM_HUMAN	1503	A	V	Polymorphism	-
P98160	PGBM_HUMAN	2995	S	G	Polymorphism	-
P98160	PGBM_HUMAN	1186	R	Q	Polymorphism	-
P98160	PGBM_HUMAN	2981	V	I	Polymorphism	-
P98160	PGBM_HUMAN	3530	R	W	Polymorphism	-
P98160	PGBM_HUMAN	3256	H	Y	Polymorphism	-
P98160	PGBM_HUMAN	1967	V	I	Polymorphism	-
P98160	PGBM_HUMAN	4331	S	N	Polymorphism	-
P98160	PGBM_HUMAN	1532	C	Y	Disease	Schwartz-Jampel syndrome (SJS1) [MIM:255800]
P98160	PGBM_HUMAN	1323	L	V	Polymorphism	-
P98161	PKD1_HUMAN	3751	Q	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3139	G	V	Polymorphism	-
P98161	PKD1_HUMAN	99	S	I	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	4059	A	V	Polymorphism	-
P98161	PKD1_HUMAN	4276	R	W	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2972	D	N	Polymorphism	-
P98161	PKD1_HUMAN	3193	P	L	Polymorphism	-
P98161	PKD1_HUMAN	436	C	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3066	F	L	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3954	A	P	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	13	L	Q	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1956	V	E	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3750	R	Q	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3560	G	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2696	L	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3311	H	R	Polymorphism	-
P98161	PKD1_HUMAN	3512	A	V	Polymorphism	-
P98161	PKD1_HUMAN	2888	R	G	Polymorphism	-
P98161	PKD1_HUMAN	4255	P	S	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2921	H	P	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	4225	Q	P	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	4106	L	P	Polymorphism	-
P98161	PKD1_HUMAN	2905	V	I	Polymorphism	-
P98161	PKD1_HUMAN	2250	T	M	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	164	Q	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	987	Q	H	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3285	V	I	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2638	H	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1926	A	V	Polymorphism	-
P98161	PKD1_HUMAN	4150	R	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3039	R	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3682	L	P	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	4102	G	E	Polymorphism	-
P98161	PKD1_HUMAN	2434	R	W	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2546	H	Y	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2858	G	S	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1995	R	H	Polymorphism	-
P98161	PKD1_HUMAN	442	A	P	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2329	R	W	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2782	V	M	Polymorphism	-
P98161	PKD1_HUMAN	3719	R	Q	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1340	R	W	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2392	R	P	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2985	R	G	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2966	E	D	Polymorphism	-
P98161	PKD1_HUMAN	2995	L	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1206	V	G	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	4155	F	V	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2889	S	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2422	T	K	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	381	G	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1168	P	S	Polymorphism	-
P98161	PKD1_HUMAN	2752	A	D	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2765	R	C	Polymorphism	-
P98161	PKD1_HUMAN	3562	S	N	Polymorphism	-
P98161	PKD1_HUMAN	4154	R	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2471	P	L	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3649	P	L	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	727	L	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3651	G	S	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	698	Y	D	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3726	W	S	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	97	D	G	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3154	L	P	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2569	S	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	738	P	R	Polymorphism	-
P98161	PKD1_HUMAN	87	L	M	Polymorphism	-
P98161	PKD1_HUMAN	3355	P	L	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	4190	S	F	Polymorphism	-
P98161	PKD1_HUMAN	4146	V	I	Polymorphism	-
P98161	PKD1_HUMAN	2649	T	I	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	4124	P	S	Polymorphism	-
P98161	PKD1_HUMAN	3602	G	S	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	611	R	W	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2646	I	T	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2379	Y	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	594	F	Y	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	739	R	Q	Polymorphism	-
P98161	PKD1_HUMAN	325	Y	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2814	G	R	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	324	R	L	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3852	L	P	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2548	E	Q	Polymorphism	-
P98161	PKD1_HUMAN	967	W	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	75	S	F	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2423	S	F	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	727	L	P	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2391	G	D	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1516	A	T	Polymorphism	-
P98161	PKD1_HUMAN	2604	D	N	Polymorphism	-
P98161	PKD1_HUMAN	2708	T	M	Polymorphism	-
P98161	PKD1_HUMAN	1242	T	M	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3167	I	F	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	210	C	G	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	139	W	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3511	L	V	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	88	A	V	Polymorphism	-
P98161	PKD1_HUMAN	3815	D	N	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	4136	R	G	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2519	Q	L	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3603	W	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2408	R	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	572	P	S	Polymorphism	-
P98161	PKD1_HUMAN	2746	R	P	Polymorphism	-
P98161	PKD1_HUMAN	2734	P	T	Polymorphism	-
P98161	PKD1_HUMAN	2768	V	M	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1667	T	P	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	4032	G	D	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	4045	I	V	Polymorphism	-
P98161	PKD1_HUMAN	1166	G	S	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3632	E	D	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3510	T	M	Polymorphism	-
P98161	PKD1_HUMAN	2370	C	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2767	R	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2674	P	S	Polymorphism	-
P98161	PKD1_HUMAN	1871	A	T	Polymorphism	-
P98161	PKD1_HUMAN	2816	L	P	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1734	T	K	Polymorphism	-
P98161	PKD1_HUMAN	3435	R	Q	Polymorphism	-
P98161	PKD1_HUMAN	3678	M	T	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	4058	V	A	Polymorphism	-
P98161	PKD1_HUMAN	1684	S	L	Polymorphism	-
P98161	PKD1_HUMAN	2373	C	Y	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1399	W	R	Polymorphism	-
P98161	PKD1_HUMAN	508	C	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	36	P	H	Polymorphism	-
P98161	PKD1_HUMAN	3753	R	W	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2336	Y	D	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2771	E	K	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2534	S	G	Polymorphism	-
P98161	PKD1_HUMAN	2735	Q	L	Polymorphism	-
P98161	PKD1_HUMAN	1649	T	M	Polymorphism	-
P98161	PKD1_HUMAN	3008	V	M	Polymorphism	-
P98161	PKD1_HUMAN	2993	L	P	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3375	V	M	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2802	P	L	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3005	Q	E	Polymorphism	-
P98161	PKD1_HUMAN	3138	V	M	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2582	T	M	Polymorphism	-
P98161	PKD1_HUMAN	2092	Y	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1786	P	L	Polymorphism	-
P98161	PKD1_HUMAN	1557	R	P	Polymorphism	-
P98161	PKD1_HUMAN	1811	E	K	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3057	V	M	Polymorphism	-
P98161	PKD1_HUMAN	2791	R	Q	Polymorphism	-
P98161	PKD1_HUMAN	950	L	P	Polymorphism	-
P98161	PKD1_HUMAN	2761	R	P	Unclassified	-
P98161	PKD1_HUMAN	1092	M	T	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2977	T	N	Polymorphism	-
P98161	PKD1_HUMAN	2826	I	T	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	845	L	S	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	690	V	D	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2764	M	T	Unclassified	-
P98161	PKD1_HUMAN	2785	G	D	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3023	M	V	Polymorphism	-
P98161	PKD1_HUMAN	2515	R	Q	Polymorphism	-
P98161	PKD1_HUMAN	61	P	L	Unclassified	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2763	L	V	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3016	Q	R	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1952	G	D	Polymorphism	-
P98161	PKD1_HUMAN	2200	R	C	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3247	R	H	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2083	T	I	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1114	L	R	Polymorphism	-
P98161	PKD1_HUMAN	2185	Y	D	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	1943	V	I	Polymorphism	-
P98161	PKD1_HUMAN	3382	T	M	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	3008	V	L	Disease	Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
P98161	PKD1_HUMAN	2760	M	T	Polymorphism	-
P98161	PKD1_HUMAN	2958	S	L	Polymorphism	-
P98164	LRP2_HUMAN	2872	A	T	Polymorphism	-
P98164	LRP2_HUMAN	4094	K	E	Polymorphism	-
P98164	LRP2_HUMAN	3305	R	H	Polymorphism	-
P98164	LRP2_HUMAN	2522	Y	H	Disease	Donnai-Barrow syndrome (DBS) [MIM:222448]
P98164	LRP2_HUMAN	669	G	D	Polymorphism	-
P98164	LRP2_HUMAN	1279	D	A	Polymorphism	-
P98164	LRP2_HUMAN	83	N	S	Polymorphism	-
P98164	LRP2_HUMAN	1083	H	Q	Polymorphism	-
P98164	LRP2_HUMAN	909	H	R	Polymorphism	-
P98164	LRP2_HUMAN	4210	I	L	Polymorphism	-
P98164	LRP2_HUMAN	2632	N	D	Polymorphism	-
P98164	LRP2_HUMAN	3011	R	M	Polymorphism	-
P98164	LRP2_HUMAN	3779	D	N	Unclassified	-
P98164	LRP2_HUMAN	2012	R	K	Polymorphism	-
P98164	LRP2_HUMAN	4272	M	V	Unclassified	A colorectal cancer sample
P98164	LRP2_HUMAN	259	G	R	Polymorphism	-
P98164	LRP2_HUMAN	2065	I	T	Polymorphism	-
P98164	LRP2_HUMAN	103	C	R	Unclassified	-
P98164	LRP2_HUMAN	1287	A	P	Polymorphism	-
P98164	LRP2_HUMAN	3828	D	G	Unclassified	-
P98168	ZXDA_HUMAN	376	G	S	Polymorphism	-
P98168	ZXDA_HUMAN	202	R	G	Polymorphism	-
P98169	ZXDB_HUMAN	760	N	S	Polymorphism	-
P98169	ZXDB_HUMAN	736	A	T	Polymorphism	-
P98169	ZXDB_HUMAN	764	D	N	Polymorphism	-
P98169	ZXDB_HUMAN	791	T	R	Polymorphism	-
P98170	XIAP_HUMAN	242	D	E	Polymorphism	-
P98170	XIAP_HUMAN	107	N	S	Polymorphism	-
P98170	XIAP_HUMAN	423	Q	P	Polymorphism	-
P98170	XIAP_HUMAN	133	S	F	Polymorphism	-
P98171	RHG04_HUMAN	104	A	V	Polymorphism	-
P98172	EFNB1_HUMAN	172	T	M	Polymorphism	-
P98172	EFNB1_HUMAN	115	Q	P	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	111	T	I	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	119	P	S	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	153	C	Y	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	182	S	R	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	151	G	S	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	137	T	A	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	153	C	S	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	189	V	A	Polymorphism	-
P98172	EFNB1_HUMAN	151	G	V	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	54	P	L	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	62	I	T	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	27	P	R	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	158	M	I	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	119	P	H	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	158	M	V	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	98	L	S	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	119	P	T	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	155	T	P	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	138	S	F	Disease	Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172	EFNB1_HUMAN	154	R	H	Polymorphism	-
P98173	FAM3A_HUMAN	213	W	C	Polymorphism	-
P98173	FAM3A_HUMAN	21	I	M	Polymorphism	-
P98174	FGD1_HUMAN	443	R	H	Disease	Aarskog-Scott syndrome (AAS) [MIM:305400]
P98174	FGD1_HUMAN	522	R	H	Disease	Aarskog-Scott syndrome (AAS) [MIM:305400]
P98174	FGD1_HUMAN	380	E	A	Disease	Aarskog-Scott syndrome (AAS) [MIM:305400]
P98174	FGD1_HUMAN	312	P	L	Polymorphism	-
P98174	FGD1_HUMAN	205	S	I	Disease	Aarskog-Scott syndrome (AAS) [MIM:305400]
P98174	FGD1_HUMAN	610	R	Q	Disease	Aarskog-Scott syndrome (AAS) [MIM:305400]
P98175	RBM10_HUMAN	396	R	H	Unclassified	A colorectal cancer sample
P98182	ZN200_HUMAN	140	T	M	Polymorphism	-
P98187	CP4F8_HUMAN	125	Y	F	Polymorphism	-
P98187	CP4F8_HUMAN	447	P	Q	Polymorphism	-
P98194	AT2C1_HUMAN	709	T	M	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	645	G	R	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	341	L	P	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	580	I	V	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	490	C	F	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	411	C	R	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	344	C	Y	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	309	G	C	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	570	T	I	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	742	D	Y	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	641	M	R	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	450	A	T	Polymorphism	-
P98194	AT2C1_HUMAN	789	G	R	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	220	G	E	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	201	P	L	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	584	L	P	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	731	A	D	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	744	P	R	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	304	A	T	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	318	L	P	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98194	AT2C1_HUMAN	309	G	V	Disease	Hailey-Hailey disease (HHD) [MIM:169600]
P98196	AT11A_HUMAN	317	M	V	Polymorphism	-
P98196	AT11A_HUMAN	1091	V	I	Polymorphism	-
P99999	CYC_HUMAN	42	G	S	Disease	Thrombocytopenia 4 (THC4) [MIM:612004]
P99999	CYC_HUMAN	56	K	R	Polymorphism	-
P99999	CYC_HUMAN	66	M	L	Polymorphism	-
Q00005	2ABB_HUMAN	138	R	P	Disease	-
Q00005	2ABB_HUMAN	36	G	V	Polymorphism	-
Q00013	EM55_HUMAN	448	E	Q	Polymorphism	-
Q00056	HXA4_HUMAN	317	P	S	Polymorphism	-
Q00056	HXA4_HUMAN	251	T	P	Polymorphism	-
Q00056	HXA4_HUMAN	178	L	F	Polymorphism	-
Q00056	HXA4_HUMAN	70	T	P	Polymorphism	-
Q00056	HXA4_HUMAN	37	G	D	Unclassified	A breast cancer sample
Q00056	HXA4_HUMAN	140	L	P	Polymorphism	-
Q00059	TFAM_HUMAN	178	P	L	Disease	Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15) [MIM:617156]
Q00059	TFAM_HUMAN	12	S	T	Polymorphism	-
Q00266	METK1_HUMAN	378	G	S	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00266	METK1_HUMAN	55	A	D	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00266	METK1_HUMAN	322	I	M	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00266	METK1_HUMAN	344	E	A	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00266	METK1_HUMAN	119	Q	H	Polymorphism	-
Q00266	METK1_HUMAN	356	R	Q	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00266	METK1_HUMAN	199	R	C	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00266	METK1_HUMAN	305	L	P	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00266	METK1_HUMAN	357	P	L	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00266	METK1_HUMAN	38	S	N	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00266	METK1_HUMAN	336	G	R	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00266	METK1_HUMAN	264	R	H	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00266	METK1_HUMAN	264	R	C	Disease	Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
Q00325	MPCP_HUMAN	72	G	E	Disease	Mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773]
Q00341	VIGLN_HUMAN	568	K	N	Unclassified	A breast cancer sample
Q00341	VIGLN_HUMAN	229	V	I	Polymorphism	-
Q00341	VIGLN_HUMAN	1264	W	L	Polymorphism	-
Q00341	VIGLN_HUMAN	61	S	A	Polymorphism	-
Q00341	VIGLN_HUMAN	939	D	V	Unclassified	A breast cancer sample
Q00341	VIGLN_HUMAN	418	N	S	Polymorphism	-
Q00403	TF2B_HUMAN	19	P	S	Polymorphism	-
Q00403	TF2B_HUMAN	132	R	Q	Unclassified	A colorectal cancer sample
Q00526	CDK3_HUMAN	264	M	T	Polymorphism	-
Q00526	CDK3_HUMAN	106	S	N	Unclassified	A glioblastoma multiforme sample
Q00526	CDK3_HUMAN	226	T	I	Polymorphism	-
Q00526	CDK3_HUMAN	124	I	T	Polymorphism	-
Q00526	CDK3_HUMAN	214	R	H	Polymorphism	-
Q00532	CDKL1_HUMAN	342	K	N	Polymorphism	-
Q00532	CDKL1_HUMAN	275	Q	E	Polymorphism	-
Q00532	CDKL1_HUMAN	67	L	P	Polymorphism	-
Q00532	CDKL1_HUMAN	330	L	V	Polymorphism	-
Q00534	CDK6_HUMAN	199	P	L	Unclassified	A metastatic melanoma sample
Q00534	CDK6_HUMAN	197	A	T	Disease	Microcephaly 12, primary, autosomal recessive (MCPH12) [MIM:616080]
Q00534	CDK6_HUMAN	110	D	N	Polymorphism	-
Q00535	CDK5_HUMAN	225	E	D	Polymorphism	-
Q00537	CDK17_HUMAN	214	T	I	Polymorphism	-
Q00577	PURA_HUMAN	97	K	E	Disease	Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
Q00577	PURA_HUMAN	206	I	F	Disease	Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
Q00577	PURA_HUMAN	157	M	K	Disease	Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
Q00577	PURA_HUMAN	199	R	P	Disease	Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
Q00577	PURA_HUMAN	89	A	P	Disease	Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
Q00577	PURA_HUMAN	100	L	P	Disease	Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
Q00597	FANCC_HUMAN	449	V	M	Polymorphism	-
Q00597	FANCC_HUMAN	195	D	V	Disease	Fanconi anemia complementation group C (FANCC) [MIM:227645]
Q00597	FANCC_HUMAN	139	G	E	Polymorphism	-
Q00597	FANCC_HUMAN	80	I	T	Polymorphism	-
Q00597	FANCC_HUMAN	190	L	F	Polymorphism	-
Q00597	FANCC_HUMAN	26	S	F	Polymorphism	-
Q00597	FANCC_HUMAN	554	L	P	Disease	Fanconi anemia complementation group C (FANCC) [MIM:227645]
Q00597	FANCC_HUMAN	465	Q	R	Polymorphism	-
Q00597	FANCC_HUMAN	496	L	R	Disease	Fanconi anemia complementation group C (FANCC) [MIM:227645]
Q00597	FANCC_HUMAN	312	I	V	Polymorphism	-
Q00604	NDP_HUMAN	45	V	M	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	60	V	E	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	61	L	I	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	43	H	Q	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	95	C	F	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	23	D	E	Polymorphism	-
Q00604	NDP_HUMAN	90	R	C	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	45	V	E	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	108	L	P	Unclassified	-
Q00604	NDP_HUMAN	67	G	R	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	110	C	G	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	89	F	L	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	92	S	P	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	63	A	D	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	54	K	N	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	96	C	W	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	124	L	F	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	75	S	P	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	121	R	Q	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	103	L	V	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	110	C	R	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	65	C	Y	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	38	R	C	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	74	R	C	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	128	C	R	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	18	I	K	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	61	L	P	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	39	C	R	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	121	R	W	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	95	C	R	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	101	S	F	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	97	R	P	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	41	R	K	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	120	Y	C	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	123	I	N	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	58	K	N	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	105	A	T	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	104	K	N	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	98	P	L	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	43	H	R	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	121	R	W	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	55	C	R	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	65	C	W	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	90	R	P	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	118	A	D	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	42	H	R	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	69	C	S	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	44	Y	C	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	126	C	S	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	121	R	Q	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	121	R	G	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	67	G	E	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	58	K	N	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	61	L	F	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	115	R	L	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	16	L	P	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	96	C	Y	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	112	G	E	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	75	S	C	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	13	L	R	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	104	K	Q	Disease	Norrie disease (ND) [MIM:310600]
Q00604	NDP_HUMAN	121	R	L	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00604	NDP_HUMAN	41	R	S	Unclassified	-
Q00604	NDP_HUMAN	38	R	C	Disease	Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]
Q00610	CLH1_HUMAN	1047	L	P	Unclassified	Mental retardation, autosomal dominant 56 (MRD56) [MIM:617854]
Q00610	CLH1_HUMAN	1108	W	R	Unclassified	Mental retardation, autosomal dominant 56 (MRD56) [MIM:617854]
Q00610	CLH1_HUMAN	890	P	L	Disease	Mental retardation, autosomal dominant 56 (MRD56) [MIM:617854]
Q00653	NFKB2_HUMAN	867	A	V	Unclassified	Immunodeficiency, common variable, 10 (CVID10) [MIM:615577]
Q00653	NFKB2_HUMAN	351	G	R	Polymorphism	-
Q00653	NFKB2_HUMAN	14	E	K	Polymorphism	-
Q00653	NFKB2_HUMAN	865	D	G	Unclassified	Immunodeficiency, common variable, 10 (CVID10) [MIM:615577]
Q00653	NFKB2_HUMAN	452	G	R	Polymorphism	-
Q00653	NFKB2_HUMAN	392	A	G	Polymorphism	-
Q00722	PLCB2_HUMAN	664	P	L	Polymorphism	-
Q00722	PLCB2_HUMAN	712	G	R	Polymorphism	-
Q00722	PLCB2_HUMAN	598	R	H	Polymorphism	-
Q00722	PLCB2_HUMAN	324	N	I	Polymorphism	-
Q00722	PLCB2_HUMAN	1095	E	G	Polymorphism	-
Q00796	DHSO_HUMAN	269	N	T	Polymorphism	-
Q00796	DHSO_HUMAN	239	Q	L	Polymorphism	-
Q00839	HNRPU_HUMAN	712	F	L	Polymorphism	-
Q00872	MYPC1_HUMAN	849	Y	H	Disease	Arthrogryposis, distal, 1B (DA1B) [MIM:614335]
Q00872	MYPC1_HUMAN	161	E	K	Disease	Arthrogryposis, distal, 1B (DA1B) [MIM:614335]
Q00872	MYPC1_HUMAN	481	H	Q	Polymorphism	-
Q00872	MYPC1_HUMAN	211	W	R	Disease	Arthrogryposis, distal, 1B (DA1B) [MIM:614335]
Q00887	PSG9_HUMAN	325	I	T	Polymorphism	-
Q00887	PSG9_HUMAN	374	Q	L	Polymorphism	-
Q00887	PSG9_HUMAN	397	H	R	Polymorphism	-
Q00887	PSG9_HUMAN	176	A	T	Polymorphism	-
Q00887	PSG9_HUMAN	18	L	V	Polymorphism	-
Q00888	PSG4_HUMAN	75	L	V	Polymorphism	-
Q00888	PSG4_HUMAN	240	S	P	Polymorphism	-
Q00888	PSG4_HUMAN	267	K	E	Polymorphism	-
Q00888	PSG4_HUMAN	177	S	R	Polymorphism	-
Q00888	PSG4_HUMAN	11	Q	H	Polymorphism	-
Q00888	PSG4_HUMAN	286	V	A	Polymorphism	-
Q00889	PSG6_HUMAN	181	L	M	Polymorphism	-
Q00889	PSG6_HUMAN	165	R	L	Polymorphism	-
Q00889	PSG6_HUMAN	161	M	T	Polymorphism	-
Q00889	PSG6_HUMAN	185	N	S	Polymorphism	-
Q00889	PSG6_HUMAN	180	L	W	Polymorphism	-
Q00889	PSG6_HUMAN	258	A	T	Polymorphism	-
Q00889	PSG6_HUMAN	85	H	D	Polymorphism	-
Q00889	PSG6_HUMAN	191	R	S	Polymorphism	-
Q00889	PSG6_HUMAN	155	L	F	Polymorphism	-
Q00889	PSG6_HUMAN	188	M	R	Polymorphism	-
Q00889	PSG6_HUMAN	404	I	S	Polymorphism	-
Q00889	PSG6_HUMAN	167	I	T	Polymorphism	-
Q00889	PSG6_HUMAN	196	K	E	Polymorphism	-
Q00889	PSG6_HUMAN	257	L	S	Polymorphism	-
Q00889	PSG6_HUMAN	253	K	N	Polymorphism	-
Q008S8	ECT2L_HUMAN	483	Q	H	Polymorphism	-
Q008S8	ECT2L_HUMAN	594	A	T	Polymorphism	-
Q008S8	ECT2L_HUMAN	527	E	K	Polymorphism	-
Q00973	B4GN1_HUMAN	300	R	C	Disease	Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195]
Q00973	B4GN1_HUMAN	516	A	V	Polymorphism	-
Q00973	B4GN1_HUMAN	35	L	V	Polymorphism	-
Q00973	B4GN1_HUMAN	172	G	R	Polymorphism	-
Q00973	B4GN1_HUMAN	433	D	A	Disease	Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195]
Q00975	CAC1B_HUMAN	1500	E	K	Polymorphism	-
Q00975	CAC1B_HUMAN	1436	E	K	Polymorphism	-
Q00975	CAC1B_HUMAN	862	A	S	Polymorphism	-
Q00975	CAC1B_HUMAN	996	T	A	Polymorphism	-
Q00975	CAC1B_HUMAN	1389	R	H	Disease	Dystonia 23 (DYT23) [MIM:614860]
Q00975	CAC1B_HUMAN	167	N	K	Polymorphism	-
Q00G26	PLIN5_HUMAN	255	C	R	Polymorphism	-
Q00G26	PLIN5_HUMAN	6	A	V	Polymorphism	-
Q00G26	PLIN5_HUMAN	306	R	W	Polymorphism	-
Q00LT1	PRCD_HUMAN	17	R	C	Polymorphism	-
Q00LT1	PRCD_HUMAN	30	V	M	Disease	Retinitis pigmentosa 36 (RP36) [MIM:610599]
Q00LT1	PRCD_HUMAN	25	P	T	Disease	Retinitis pigmentosa 36 (RP36) [MIM:610599]
Q00LT1	PRCD_HUMAN	2	C	Y	Disease	Retinitis pigmentosa 36 (RP36) [MIM:610599]
Q01081	U2AF1_HUMAN	157	Q	R	Disease	Myelodysplastic syndrome (MDS) [MIM:614286]
Q01081	U2AF1_HUMAN	34	S	F	Disease	Myelodysplastic syndrome (MDS) [MIM:614286]
Q01081	U2AF1_HUMAN	34	S	Y	Disease	Myelodysplastic syndrome (MDS) [MIM:614286]
Q01082	SPTB2_HUMAN	1411	D	H	Polymorphism	-
Q01094	E2F1_HUMAN	252	R	H	Polymorphism	-
Q01094	E2F1_HUMAN	276	V	M	Polymorphism	-
Q01094	E2F1_HUMAN	311	T	N	Polymorphism	-
Q01094	E2F1_HUMAN	393	G	S	Polymorphism	-
Q01094	E2F1_HUMAN	200	G	S	Polymorphism	-
Q01105	SET_HUMAN	95	W	G	Disease	Mental retardation, autosomal dominant 58 (MRD58) [MIM:618106]
Q01105	SET_HUMAN	118	H	Y	Disease	Mental retardation, autosomal dominant 58 (MRD58) [MIM:618106]
Q01113	IL9R_HUMAN	288	Y	C	Polymorphism	-
Q01113	IL9R_HUMAN	63	R	K	Polymorphism	-
Q01113	IL9R_HUMAN	239	E	Q	Polymorphism	-
Q01113	IL9R_HUMAN	331	G	R	Polymorphism	-
Q01113	IL9R_HUMAN	365	R	H	Polymorphism	-
Q01118	SCN7A_HUMAN	1657	D	G	Polymorphism	-
Q01118	SCN7A_HUMAN	600	M	L	Polymorphism	-
Q01118	SCN7A_HUMAN	958	M	I	Polymorphism	-
Q01118	SCN7A_HUMAN	41	T	N	Polymorphism	-
Q01118	SCN7A_HUMAN	1516	R	K	Polymorphism	-
Q01118	SCN7A_HUMAN	1596	V	L	Polymorphism	-
Q01118	SCN7A_HUMAN	407	I	V	Polymorphism	-
Q01118	SCN7A_HUMAN	1313	A	V	Polymorphism	-
Q01151	CD83_HUMAN	182	R	Q	Polymorphism	-
Q01196	RUNX1_HUMAN	433	S	R	Polymorphism	-
Q01196	RUNX1_HUMAN	431	S	R	Polymorphism	-
Q01196	RUNX1_HUMAN	174	R	Q	Disease	Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]
Q01196	RUNX1_HUMAN	139	R	Q	Disease	Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]
Q01201	RELB_HUMAN	396	T	M	Polymorphism	-
Q01344	IL5RA_HUMAN	129	I	V	Polymorphism	-
Q01344	IL5RA_HUMAN	262	V	A	Polymorphism	-
Q01362	FCERB_HUMAN	237	E	G	Polymorphism	-
Q01362	FCERB_HUMAN	143	T	M	Polymorphism	-
Q01362	FCERB_HUMAN	211	N	K	Polymorphism	-
Q01415	GALK2_HUMAN	182	I	V	Polymorphism	-
Q01432	AMPD3_HUMAN	450	W	R	Disease	Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432	AMPD3_HUMAN	310	N	K	Disease	Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432	AMPD3_HUMAN	455	Y	H	Polymorphism	-
Q01432	AMPD3_HUMAN	402	R	C	Disease	Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432	AMPD3_HUMAN	585	P	L	Disease	Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432	AMPD3_HUMAN	331	R	C	Disease	Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432	AMPD3_HUMAN	573	R	C	Disease	Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432	AMPD3_HUMAN	320	A	V	Disease	Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432	AMPD3_HUMAN	185	R	W	Polymorphism	-
Q01432	AMPD3_HUMAN	712	Q	P	Disease	Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432	AMPD3_HUMAN	324	M	T	Disease	Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432	AMPD3_HUMAN	311	V	L	Disease	Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01433	AMPD2_HUMAN	793	D	Y	Disease	Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809]
Q01433	AMPD2_HUMAN	778	E	D	Disease	Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809]
Q01433	AMPD2_HUMAN	674	R	H	Disease	Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809]
Q01433	AMPD2_HUMAN	522	I	V	Polymorphism	-
Q01453	PMP22_HUMAN	137	I	V	Polymorphism	-
Q01453	PMP22_HUMAN	93	G	R	Disease	Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]
Q01453	PMP22_HUMAN	150	G	C	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	22	S	F	Disease	Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]
Q01453	PMP22_HUMAN	157	R	W	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	76	S	I	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	157	R	G	Polymorphism	-
Q01453	PMP22_HUMAN	107	G	V	Disease	Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]
Q01453	PMP22_HUMAN	72	S	L	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	100	G	E	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	69	M	K	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	71	L	P	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	118	T	M	Disease	Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]
Q01453	PMP22_HUMAN	30	V	M	Disease	Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]
Q01453	PMP22_HUMAN	72	S	L	Disease	Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]
Q01453	PMP22_HUMAN	23	T	R	Disease	Charcot-Marie-Tooth disease 1E (CMT1E) [MIM:118300]
Q01453	PMP22_HUMAN	16	L	P	Disease	Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]
Q01453	PMP22_HUMAN	150	G	D	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	65	V	F	Disease	Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]
Q01453	PMP22_HUMAN	109	C	R	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	12	H	Q	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	149	S	R	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	147	L	R	Disease	Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]
Q01453	PMP22_HUMAN	105	L	R	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	79	S	P	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	72	S	P	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	105	L	R	Disease	Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]
Q01453	PMP22_HUMAN	19	L	P	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	67	A	T	Disease	Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]
Q01453	PMP22_HUMAN	80	L	R	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	80	L	P	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	100	G	R	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	28	W	R	Disease	Charcot-Marie-Tooth disease 1E (CMT1E) [MIM:118300]
Q01453	PMP22_HUMAN	79	S	C	Disease	Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]
Q01453	PMP22_HUMAN	22	S	F	Disease	Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]
Q01453	PMP22_HUMAN	72	S	W	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	16	L	P	Disease	Dejerine-Sottas syndrome (DSS) [MIM:145900]
Q01453	PMP22_HUMAN	37	D	V	Disease	Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]
Q01453	PMP22_HUMAN	67	A	P	Disease	Charcot-Marie-Tooth disease 1E (CMT1E) [MIM:118300]
Q01459	DIAC_HUMAN	310	D	Y	Polymorphism	-
Q01459	DIAC_HUMAN	274	V	I	Polymorphism	-
Q01484	ANK2_HUMAN	1458	E	G	Unclassified	Long QT syndrome 4 (LQT4) [MIM:600919]
Q01484	ANK2_HUMAN	1267	G	R	Unclassified	A colorectal cancer sample
Q01484	ANK2_HUMAN	3653	T	K	Unclassified	A colorectal cancer sample
Q01484	ANK2_HUMAN	3744	T	N	Disease	Long QT syndrome 4 (LQT4) [MIM:600919]
Q01484	ANK2_HUMAN	3740	L	I	Disease	Long QT syndrome 4 (LQT4) [MIM:600919]
Q01484	ANK2_HUMAN	1555	V	D	Polymorphism	-
Q01484	ANK2_HUMAN	2369	V	A	Polymorphism	-
Q01484	ANK2_HUMAN	685	G	E	Unclassified	A breast cancer sample
Q01484	ANK2_HUMAN	3906	R	W	Disease	Long QT syndrome 4 (LQT4) [MIM:600919]
Q01484	ANK2_HUMAN	687	N	S	Polymorphism	-
Q01484	ANK2_HUMAN	3931	E	K	Disease	Long QT syndrome 4 (LQT4) [MIM:600919]
Q01518	CAP1_HUMAN	236	C	G	Polymorphism	-
Q01518	CAP1_HUMAN	229	C	G	Polymorphism	-
Q01518	CAP1_HUMAN	249	Y	D	Polymorphism	-
Q01518	CAP1_HUMAN	245	I	S	Polymorphism	-
Q01518	CAP1_HUMAN	247	C	G	Polymorphism	-
Q01518	CAP1_HUMAN	256	S	A	Polymorphism	-
Q01523	DEF5_HUMAN	71	R	H	Polymorphism	-
Q01534	TSPY1_HUMAN	216	I	F	Polymorphism	-
Q01534	TSPY1_HUMAN	195	P	R	Polymorphism	-
Q01543	FLI1_HUMAN	337	R	Q	Disease	Bleeding disorder, platelet-type 21 (BDPLT21) [MIM:617443]
Q01543	FLI1_HUMAN	345	K	E	Disease	Bleeding disorder, platelet-type 21 (BDPLT21) [MIM:617443]
Q01543	FLI1_HUMAN	343	Y	C	Disease	Bleeding disorder, platelet-type 21 (BDPLT21) [MIM:617443]
Q01543	FLI1_HUMAN	324	R	W	Disease	Bleeding disorder, platelet-type 21 (BDPLT21) [MIM:617443]
Q01543	FLI1_HUMAN	337	R	W	Disease	Bleeding disorder, platelet-type 21 (BDPLT21) [MIM:617443]
Q01546	K22O_HUMAN	283	A	T	Polymorphism	-
Q01546	K22O_HUMAN	629	T	M	Polymorphism	-
Q01546	K22O_HUMAN	168	L	V	Unclassified	A breast cancer sample
Q01546	K22O_HUMAN	359	A	T	Polymorphism	-
Q01628	IFM3_HUMAN	3	H	Q	Polymorphism	-
Q01629	IFM2_HUMAN	121	I	V	Polymorphism	-
Q01629	IFM2_HUMAN	41	M	T	Polymorphism	-
Q01629	IFM2_HUMAN	33	V	A	Polymorphism	-
Q01638	ILRL1_HUMAN	551	L	S	Polymorphism	-
Q01638	ILRL1_HUMAN	433	A	T	Polymorphism	-
Q01638	ILRL1_HUMAN	78	A	E	Polymorphism	-
Q01638	ILRL1_HUMAN	501	Q	R	Polymorphism	-
Q01638	ILRL1_HUMAN	501	Q	K	Polymorphism	-
Q01638	ILRL1_HUMAN	549	T	I	Polymorphism	-
Q01650	LAT1_HUMAN	223	D	V	Polymorphism	-
Q01650	LAT1_HUMAN	230	N	K	Polymorphism	-
Q01658	NC2B_HUMAN	171	E	D	Polymorphism	-
Q01664	TFAP4_HUMAN	218	Q	H	Polymorphism	-
Q01668	CAC1D_HUMAN	407	G	R	Disease	-
Q01668	CAC1D_HUMAN	749	A	G	Disease	-
Q01668	CAC1D_HUMAN	750	I	M	Disease	Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474]
Q01668	CAC1D_HUMAN	401	V	L	Disease	-
Q01668	CAC1D_HUMAN	2097	D	N	Polymorphism	-
Q01668	CAC1D_HUMAN	403	G	D	Disease	Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474]
Q01718	ACTHR_HUMAN	103	D	N	Disease	Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]
Q01718	ACTHR_HUMAN	74	S	I	Disease	Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]
Q01718	ACTHR_HUMAN	128	R	C	Disease	Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]
Q01718	ACTHR_HUMAN	120	S	R	Disease	Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]
Q01718	ACTHR_HUMAN	27	P	R	Polymorphism	-
Q01718	ACTHR_HUMAN	146	R	H	Disease	Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]
Q01718	ACTHR_HUMAN	137	R	P	Unclassified	-
Q01718	ACTHR_HUMAN	278	F	C	Polymorphism	-
Q01718	ACTHR_HUMAN	137	R	W	Disease	Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]
Q01718	ACTHR_HUMAN	254	Y	C	Disease	Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]
Q01718	ACTHR_HUMAN	107	D	N	Disease	Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]
Q01718	ACTHR_HUMAN	251	C	F	Disease	Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]
Q01726	MSHR_HUMAN	196	F	L	Polymorphism	-
Q01726	MSHR_HUMAN	60	V	L	Polymorphism	-
Q01726	MSHR_HUMAN	92	V	M	Polymorphism	-
Q01726	MSHR_HUMAN	128	M	T	Disease	Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]
Q01726	MSHR_HUMAN	151	R	C	Polymorphism	-
Q01726	MSHR_HUMAN	155	I	T	Polymorphism	-
Q01726	MSHR_HUMAN	40	I	T	Polymorphism	-
Q01726	MSHR_HUMAN	166	A	G	Polymorphism	-
Q01726	MSHR_HUMAN	289	C	R	Disease	Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]
Q01726	MSHR_HUMAN	95	T	M	Polymorphism	-
Q01726	MSHR_HUMAN	122	V	M	Polymorphism	-
Q01726	MSHR_HUMAN	162	R	P	Polymorphism	-
Q01726	MSHR_HUMAN	84	D	E	Polymorphism	-
Q01726	MSHR_HUMAN	281	N	S	Polymorphism	-
Q01726	MSHR_HUMAN	160	R	W	Polymorphism	-
Q01726	MSHR_HUMAN	156	V	L	Polymorphism	-
Q01726	MSHR_HUMAN	104	G	S	Polymorphism	-
Q01726	MSHR_HUMAN	163	R	Q	Polymorphism	-
Q01726	MSHR_HUMAN	294	D	H	Polymorphism	-
Q01726	MSHR_HUMAN	93	L	R	Unclassified	-
Q01726	MSHR_HUMAN	142	R	H	Polymorphism	-
Q01726	MSHR_HUMAN	159	P	T	Polymorphism	-
Q01726	MSHR_HUMAN	89	G	R	Polymorphism	-
Q01726	MSHR_HUMAN	38	V	M	Disease	Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]
Q01726	MSHR_HUMAN	157	T	I	Polymorphism	-
Q01726	MSHR_HUMAN	51	V	A	Disease	Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]
Q01726	MSHR_HUMAN	41	S	F	Disease	Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]
Q01726	MSHR_HUMAN	67	R	Q	Polymorphism	-
Q01726	MSHR_HUMAN	171	A	S	Polymorphism	-
Q01726	MSHR_HUMAN	120	I	T	Polymorphism	-
Q01740	FMO1_HUMAN	227	S	T	Polymorphism	-
Q01740	FMO1_HUMAN	327	F	L	Polymorphism	-
Q01740	FMO1_HUMAN	303	I	T	Polymorphism	-
Q01740	FMO1_HUMAN	303	I	V	Polymorphism	-
Q01740	FMO1_HUMAN	474	R	H	Polymorphism	-
Q01740	FMO1_HUMAN	223	R	Q	Polymorphism	-
Q01740	FMO1_HUMAN	322	I	V	Polymorphism	-
Q01740	FMO1_HUMAN	97	H	Q	Polymorphism	-
Q01740	FMO1_HUMAN	373	K	R	Polymorphism	-
Q01804	OTUD4_HUMAN	398	G	V	Polymorphism	-
Q01804	OTUD4_HUMAN	194	A	G	Polymorphism	-
Q01804	OTUD4_HUMAN	216	A	T	Polymorphism	-
Q01831	XPC_HUMAN	511	K	Q	Polymorphism	-
Q01831	XPC_HUMAN	928	K	Q	Polymorphism	-
Q01831	XPC_HUMAN	514	C	S	Polymorphism	-
Q01831	XPC_HUMAN	671	R	H	Polymorphism	-
Q01831	XPC_HUMAN	690	W	S	Disease	Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720]
Q01831	XPC_HUMAN	939	Q	K	Polymorphism	-
Q01831	XPC_HUMAN	513	M	I	Polymorphism	-
Q01831	XPC_HUMAN	16	L	V	Polymorphism	-
Q01831	XPC_HUMAN	314	R	Q	Polymorphism	-
Q01831	XPC_HUMAN	48	L	F	Polymorphism	-
Q01831	XPC_HUMAN	689	T	M	Polymorphism	-
Q01831	XPC_HUMAN	632	Q	E	Polymorphism	-
Q01831	XPC_HUMAN	492	R	H	Polymorphism	-
Q01831	XPC_HUMAN	334	P	H	Disease	Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720]
Q01831	XPC_HUMAN	287	F	C	Polymorphism	-
Q01831	XPC_HUMAN	499	A	V	Polymorphism	-
Q01831	XPC_HUMAN	86	K	R	Polymorphism	-
Q01860	PO5F1_HUMAN	357	M	L	Polymorphism	-
Q01860	PO5F1_HUMAN	226	L	F	Polymorphism	-
Q01860	PO5F1_HUMAN	322	T	A	Polymorphism	-
Q01860	PO5F1_HUMAN	351	T	I	Polymorphism	-
Q01892	SPIB_HUMAN	104	A	P	Polymorphism	-
Q01955	CO4A3_HUMAN	1334	G	E	Disease	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	1167	G	R	Disease	Alport syndrome 3, autosomal dominant (ATS3) [MIM:104200]
Q01955	CO4A3_HUMAN	451	H	R	Polymorphism	-
Q01955	CO4A3_HUMAN	1215	R	Q	Unclassified	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	1277	G	S	Disease	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	1474	L	P	Polymorphism	-
Q01955	CO4A3_HUMAN	407	G	R	Disease	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	408	R	H	Polymorphism	-
Q01955	CO4A3_HUMAN	1330	I	T	Unclassified	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	1269	D	E	Polymorphism	-
Q01955	CO4A3_HUMAN	985	G	V	Disease	Hematuria, benign familial (BFH) [MIM:141200]
Q01955	CO4A3_HUMAN	326	D	Y	Polymorphism	-
Q01955	CO4A3_HUMAN	1661	R	C	Unclassified	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	141	L	P	Polymorphism	-
Q01955	CO4A3_HUMAN	631	G	V	Unclassified	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	1495	Q	R	Polymorphism	-
Q01955	CO4A3_HUMAN	532	G	D	Disease	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	1347	D	E	Unclassified	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	43	G	R	Polymorphism	-
Q01955	CO4A3_HUMAN	574	P	L	Polymorphism	-
Q01955	CO4A3_HUMAN	834	K	R	Polymorphism	-
Q01955	CO4A3_HUMAN	640	G	R	Disease	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	297	G	E	Disease	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	162	E	G	Polymorphism	-
Q01955	CO4A3_HUMAN	739	G	R	Disease	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	1207	G	E	Disease	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	853	G	R	Disease	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	1216	G	R	Disease	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
Q01955	CO4A3_HUMAN	1015	G	E	Disease	Hematuria, benign familial (BFH) [MIM:141200]
Q01959	SC6A3_HUMAN	471	V	I	Polymorphism	-
Q01959	SC6A3_HUMAN	368	L	Q	Disease	Parkinsonism-dystonia infantile (PKDYS) [MIM:613135]
Q01959	SC6A3_HUMAN	395	P	L	Disease	Parkinsonism-dystonia infantile (PKDYS) [MIM:613135]
Q01959	SC6A3_HUMAN	121	G	S	Unclassified	A breast cancer sample
Q01959	SC6A3_HUMAN	544	R	S	Unclassified	A breast cancer sample
Q01959	SC6A3_HUMAN	237	R	Q	Polymorphism	-
Q01968	OCRL_HUMAN	524	H	Q	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	591	N	K	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	375	H	Y	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	522	S	R	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	801	P	L	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	318	R	C	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	421	G	E	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	533	I	S	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	318	R	C	Disease	Dent disease 2 (DD2) [MIM:300555]
Q01968	OCRL_HUMAN	424	N	D	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	451	D	G	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	493	R	W	Disease	Dent disease 2 (DD2) [MIM:300555]
Q01968	OCRL_HUMAN	797	A	P	Unclassified	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	503	W	R	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	414	H	R	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	799	P	L	Disease	Dent disease 2 (DD2) [MIM:300555]
Q01968	OCRL_HUMAN	277	Q	R	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	337	R	P	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	357	G	E	Unclassified	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	500	R	Q	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	457	R	G	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	768	I	N	Unclassified	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	499	D	H	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	451	D	N	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	891	L	R	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	479	Y	C	Disease	Dent disease 2 (DD2) [MIM:300555]
Q01968	OCRL_HUMAN	513	Y	C	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	468	E	K	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	463	F	S	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	372	V	G	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	468	E	G	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	524	H	R	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	508	V	D	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	498	C	Y	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	374	S	F	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	526	P	L	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	354	N	H	Disease	Dent disease 2 (DD2) [MIM:300555]
Q01968	OCRL_HUMAN	373	N	Y	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	500	R	G	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	337	R	C	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	274	I	T	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	495	P	L	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	361	R	I	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01968	OCRL_HUMAN	242	F	S	Disease	Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
Q01970	PLCB3_HUMAN	483	R	H	Polymorphism	-
Q01973	ROR1_HUMAN	150	F	L	Unclassified	An ovarian mucinous carcinoma sample
Q01973	ROR1_HUMAN	646	Y	C	Polymorphism	-
Q01973	ROR1_HUMAN	562	E	D	Unclassified	A breast cancer sample
Q01973	ROR1_HUMAN	776	S	N	Unclassified	A colorectal adenocarcinoma sample
Q01973	ROR1_HUMAN	567	R	I	Unclassified	A colorectal adenocarcinoma sample
Q01973	ROR1_HUMAN	624	G	R	Polymorphism	-
Q01973	ROR1_HUMAN	518	T	M	Polymorphism	-
Q01973	ROR1_HUMAN	301	I	V	Unclassified	A renal clear cell carcinoma sample
Q01973	ROR1_HUMAN	736	R	T	Disease	Deafness, autosomal recessive, 108 (DFNB108) [MIM:617654]
Q01973	ROR1_HUMAN	144	G	E	Unclassified	A metastatic melanoma sample
Q01974	ROR2_HUMAN	530	R	Q	Polymorphism	-
Q01974	ROR2_HUMAN	672	D	N	Polymorphism	-
Q01974	ROR2_HUMAN	244	R	Q	Polymorphism	-
Q01974	ROR2_HUMAN	762	S	L	Polymorphism	-
Q01974	ROR2_HUMAN	366	R	W	Disease	Robinow syndrome autosomal recessive (RRS) [MIM:268310]
Q01974	ROR2_HUMAN	557	S	L	Polymorphism	-
Q01974	ROR2_HUMAN	189	R	W	Disease	Robinow syndrome autosomal recessive (RRS) [MIM:268310]
Q01974	ROR2_HUMAN	184	R	C	Disease	Robinow syndrome autosomal recessive (RRS) [MIM:268310]
Q01974	ROR2_HUMAN	245	T	A	Polymorphism	-
Q01974	ROR2_HUMAN	695	G	R	Polymorphism	-
Q01974	ROR2_HUMAN	935	D	E	Polymorphism	-
Q01974	ROR2_HUMAN	490	G	A	Polymorphism	-
Q01974	ROR2_HUMAN	620	N	K	Disease	Robinow syndrome autosomal recessive (RRS) [MIM:268310]
Q01974	ROR2_HUMAN	738	R	C	Polymorphism	-
Q01974	ROR2_HUMAN	644	D	N	Polymorphism	-
Q01974	ROR2_HUMAN	548	P	S	Polymorphism	-
Q01974	ROR2_HUMAN	542	V	M	Unclassified	A colorectal adenocarcinoma sample
Q01974	ROR2_HUMAN	349	H	D	Polymorphism	-
Q01974	ROR2_HUMAN	182	C	Y	Disease	Robinow syndrome autosomal recessive (RRS) [MIM:268310]
Q01974	ROR2_HUMAN	819	V	I	Polymorphism	-
Q01995	TAGL_HUMAN	182	N	S	Polymorphism	-
Q02040	AK17A_HUMAN	194	P	S	Polymorphism	-
Q02045	MYL5_HUMAN	88	F	S	Polymorphism	-
Q02078	MEF2A_HUMAN	283	G	D	Polymorphism	-
Q02078	MEF2A_HUMAN	263	N	S	Polymorphism	-
Q02078	MEF2A_HUMAN	279	P	L	Polymorphism	-
Q02083	NAAA_HUMAN	151	V	I	Polymorphism	-
Q02083	NAAA_HUMAN	334	F	L	Polymorphism	-
Q02083	NAAA_HUMAN	107	N	K	Polymorphism	-
Q02094	RHAG_HUMAN	164	K	Q	Polymorphism	-
Q02094	RHAG_HUMAN	79	S	N	Disease	Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
Q02094	RHAG_HUMAN	61	I	R	Disease	Overhydrated hereditary stomatocytosis (OHST) [MIM:185000]
Q02094	RHAG_HUMAN	227	S	L	Polymorphism	-
Q02094	RHAG_HUMAN	380	G	V	Disease	Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
Q02094	RHAG_HUMAN	280	G	R	Disease	Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
Q02094	RHAG_HUMAN	242	N	D	Polymorphism	-
Q02094	RHAG_HUMAN	279	G	E	Disease	Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
Q02094	RHAG_HUMAN	106	Q	E	Polymorphism	-
Q02094	RHAG_HUMAN	270	V	I	Polymorphism	-
Q02094	RHAG_HUMAN	65	F	S	Disease	Overhydrated hereditary stomatocytosis (OHST) [MIM:185000]
Q02108	GCYA1_HUMAN	25	V	I	Polymorphism	-
Q02127	PYRD_HUMAN	202	G	A	Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127	PYRD_HUMAN	152	G	R	Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127	PYRD_HUMAN	7	K	Q	Polymorphism	-
Q02127	PYRD_HUMAN	19	G	E	Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127	PYRD_HUMAN	202	G	D	Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127	PYRD_HUMAN	284	T	I	Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127	PYRD_HUMAN	392	D	G	Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127	PYRD_HUMAN	244	R	W	Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127	PYRD_HUMAN	135	R	C	Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127	PYRD_HUMAN	346	R	W	Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127	PYRD_HUMAN	199	R	C	Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02156	KPCE_HUMAN	333	A	V	Polymorphism	-
Q02156	KPCE_HUMAN	143	E	K	Unclassified	A colorectal cancer sample
Q02156	KPCE_HUMAN	563	T	M	Polymorphism	-
Q02156	KPCE_HUMAN	389	P	R	Polymorphism	-
Q02156	KPCE_HUMAN	654	A	T	Polymorphism	-
Q02161	RHD_HUMAN	245	V	L	Polymorphism	-
Q02161	RHD_HUMAN	311	Y	C	Polymorphism	-
Q02161	RHD_HUMAN	306	V	I	Polymorphism	-
Q02161	RHD_HUMAN	238	V	M	Polymorphism	-
Q02161	RHD_HUMAN	263	G	R	Polymorphism	-
Q02161	RHD_HUMAN	110	L	P	Polymorphism	-
Q02161	RHD_HUMAN	233	E	Q	Polymorphism	-
Q02161	RHD_HUMAN	223	F	V	Polymorphism	-
Q02161	RHD_HUMAN	218	M	I	Polymorphism	-
Q02161	RHD_HUMAN	103	S	C	Unclassified	A breast cancer sample
Q02161	RHD_HUMAN	16	W	C	Polymorphism	-
Q02161	RHD_HUMAN	193	E	K	Polymorphism	-
Q02161	RHD_HUMAN	201	T	R	Polymorphism	-
Q02218	ODO1_HUMAN	1018	V	I	Polymorphism	-
Q02223	TNR17_HUMAN	54	A	V	Polymorphism	-
Q02223	TNR17_HUMAN	75	F	V	Polymorphism	-
Q02223	TNR17_HUMAN	81	N	S	Polymorphism	-
Q02223	TNR17_HUMAN	176	E	D	Polymorphism	-
Q02223	TNR17_HUMAN	165	C	S	Polymorphism	-
Q02223	TNR17_HUMAN	153	A	T	Polymorphism	-
Q02223	TNR17_HUMAN	65	I	V	Polymorphism	-
Q02224	CENPE_HUMAN	1911	S	T	Polymorphism	-
Q02224	CENPE_HUMAN	933	D	N	Disease	Microcephaly 13, primary, autosomal recessive (MCPH13) [MIM:616051]
Q02224	CENPE_HUMAN	1925	E	D	Polymorphism	-
Q02224	CENPE_HUMAN	1581	S	R	Polymorphism	-
Q02224	CENPE_HUMAN	1535	F	L	Polymorphism	-
Q02224	CENPE_HUMAN	2090	T	M	Polymorphism	-
Q02224	CENPE_HUMAN	1355	K	E	Disease	Microcephaly 13, primary, autosomal recessive (MCPH13) [MIM:616051]
Q02241	KIF23_HUMAN	515	F	L	Polymorphism	-
Q02246	CNTN2_HUMAN	145	A	T	Polymorphism	-
Q02246	CNTN2_HUMAN	1024	V	I	Polymorphism	-
Q02246	CNTN2_HUMAN	366	P	L	Polymorphism	-
Q02246	CNTN2_HUMAN	657	R	W	Polymorphism	-
Q02252	MMSA_HUMAN	446	G	R	Disease	Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105]
Q02297	NRG1_HUMAN	463	M	K	Polymorphism	-
Q02297	NRG1_HUMAN	38	R	Q	Polymorphism	-
Q02297	NRG1_HUMAN	289	M	T	Polymorphism	-
Q02318	CP27A_HUMAN	395	R	C	Disease	Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
Q02318	CP27A_HUMAN	169	A	V	Polymorphism	-
Q02318	CP27A_HUMAN	395	R	S	Disease	Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
Q02318	CP27A_HUMAN	479	R	C	Disease	Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
Q02318	CP27A_HUMAN	474	R	W	Disease	Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
Q02318	CP27A_HUMAN	175	T	M	Polymorphism	-
Q02318	CP27A_HUMAN	405	R	Q	Disease	Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
Q02318	CP27A_HUMAN	474	R	Q	Disease	Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
Q02318	CP27A_HUMAN	145	G	E	Disease	Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
Q02383	SEMG2_HUMAN	274	S	N	Polymorphism	-
Q02383	SEMG2_HUMAN	279	H	Y	Polymorphism	-
Q02383	SEMG2_HUMAN	368	G	R	Polymorphism	-
Q02383	SEMG2_HUMAN	57	T	A	Polymorphism	-
Q02383	SEMG2_HUMAN	43	Q	K	Polymorphism	-
Q02386	ZNF45_HUMAN	187	A	T	Polymorphism	-
Q02386	ZNF45_HUMAN	299	T	A	Polymorphism	-
Q02386	ZNF45_HUMAN	255	R	K	Polymorphism	-
Q02386	ZNF45_HUMAN	504	R	K	Polymorphism	-
Q02386	ZNF45_HUMAN	303	P	R	Polymorphism	-
Q02388	CO7A1_HUMAN	2348	G	R	Unclassified	-
Q02388	CO7A1_HUMAN	1772	R	W	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	595	P	L	Polymorphism	-
Q02388	CO7A1_HUMAN	1776	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2015	G	E	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	1703	G	E	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2674	G	D	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	1557	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2043	G	W	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2064	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	1791	G	E	Disease	Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
Q02388	CO7A1_HUMAN	2031	G	S	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2366	G	S	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2008	R	C	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2070	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2009	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2369	G	S	Disease	Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
Q02388	CO7A1_HUMAN	1519	G	D	Disease	Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]
Q02388	CO7A1_HUMAN	2037	G	E	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2043	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	142	K	R	Unclassified	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	1812	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	1595	G	R	Disease	Nail disorder, non-syndromic congenital, 8 (NDNC8) [MIM:607523]
Q02388	CO7A1_HUMAN	2034	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	1815	G	R	Disease	Nail disorder, non-syndromic congenital, 8 (NDNC8) [MIM:607523]
Q02388	CO7A1_HUMAN	2040	G	S	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2025	G	A	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	1845	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2069	R	C	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	1981	K	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2034	G	R	Disease	Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC) [MIM:131750]
Q02388	CO7A1_HUMAN	2049	G	E	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	1652	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2003	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2079	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	1120	R	K	Polymorphism	-
Q02388	CO7A1_HUMAN	2557	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2429	P	L	Polymorphism	-
Q02388	CO7A1_HUMAN	1347	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2221	G	A	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	1982	G	W	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2008	R	G	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2251	G	E	Disease	Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]
Q02388	CO7A1_HUMAN	1366	R	W	Unclassified	A breast cancer sample
Q02388	CO7A1_HUMAN	2028	G	R	Disease	Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
Q02388	CO7A1_HUMAN	2040	G	D	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2740	G	A	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	119	T	P	Unclassified	A breast cancer sample
Q02388	CO7A1_HUMAN	2192	G	S	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	1782	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2028	G	A	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2132	G	D	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2791	R	W	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	1277	P	L	Polymorphism	-
Q02388	CO7A1_HUMAN	2713	G	D	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2713	G	R	Disease	Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
Q02388	CO7A1_HUMAN	2296	G	E	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2006	G	D	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2028	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2040	G	V	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2775	G	S	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2073	G	D	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2207	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2653	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2034	G	W	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	1364	P	T	Unclassified	A breast cancer sample
Q02388	CO7A1_HUMAN	2006	G	A	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	1604	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2316	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	1522	G	E	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2575	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2623	G	C	Disease	Epidermolysis bullosa dystrophica, pretibial type (PR-DEB) [MIM:131850]
Q02388	CO7A1_HUMAN	2671	G	V	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2063	R	W	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2046	G	V	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2749	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2055	G	E	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2674	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2351	G	R	Polymorphism	-
Q02388	CO7A1_HUMAN	2242	G	R	Disease	Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
Q02388	CO7A1_HUMAN	2569	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2798	M	K	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2263	G	V	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2079	G	E	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02388	CO7A1_HUMAN	2287	G	R	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2622	R	W	Disease	Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
Q02388	CO7A1_HUMAN	2076	G	D	Disease	Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
Q02410	APBA1_HUMAN	184	S	A	Polymorphism	-
Q02413	DSG1_HUMAN	395	T	S	Polymorphism	-
Q02413	DSG1_HUMAN	11	M	V	Polymorphism	-
Q02413	DSG1_HUMAN	493	N	T	Polymorphism	-
Q02413	DSG1_HUMAN	841	Y	F	Polymorphism	-
Q02413	DSG1_HUMAN	528	Y	S	Polymorphism	-
Q02413	DSG1_HUMAN	821	L	Q	Polymorphism	-
Q02413	DSG1_HUMAN	828	D	N	Polymorphism	-
Q02413	DSG1_HUMAN	498	T	N	Polymorphism	-
Q02413	DSG1_HUMAN	538	D	N	Polymorphism	-
Q02413	DSG1_HUMAN	665	M	I	Polymorphism	-
Q02446	SP4_HUMAN	197	Q	K	Polymorphism	-
Q02447	SP3_HUMAN	164	T	A	Polymorphism	-
Q02487	DSC2_HUMAN	275	T	M	Disease	Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]
Q02487	DSC2_HUMAN	11	N	S	Polymorphism	-
Q02487	DSC2_HUMAN	358	T	I	Polymorphism	-
Q02487	DSC2_HUMAN	231	I	T	Disease	Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]
Q02487	DSC2_HUMAN	596	A	V	Polymorphism	-
Q02487	DSC2_HUMAN	340	T	A	Disease	Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]
Q02487	DSC2_HUMAN	776	I	V	Polymorphism	-
Q02487	DSC2_HUMAN	638	Q	H	Polymorphism	-
Q02487	DSC2_HUMAN	203	R	C	Disease	Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]
Q02487	DSC2_HUMAN	364	V	M	Disease	Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]
Q02487	DSC2_HUMAN	798	R	Q	Polymorphism	-
Q02505	MUC3A_HUMAN	3299	Y	N	Polymorphism	-
Q02505	MUC3A_HUMAN	3120	V	A	Polymorphism	-
Q02505	MUC3A_HUMAN	3299	Y	H	Polymorphism	-
Q02535	ID3_HUMAN	111	S	A	Polymorphism	-
Q02535	ID3_HUMAN	105	T	A	Polymorphism	-
Q02539	H11_HUMAN	99	T	I	Polymorphism	-
Q02539	H11_HUMAN	140	K	R	Polymorphism	-
Q02539	H11_HUMAN	115	S	F	Polymorphism	-
Q02548	PAX5_HUMAN	34	P	Q	Polymorphism	-
Q02548	PAX5_HUMAN	53	D	V	Polymorphism	-
Q02548	PAX5_HUMAN	66	S	N	Polymorphism	-
Q02548	PAX5_HUMAN	183	G	V	Polymorphism	-
Q02548	PAX5_HUMAN	24	G	R	Polymorphism	-
Q02548	PAX5_HUMAN	75	T	R	Polymorphism	-
Q02548	PAX5_HUMAN	151	V	I	Polymorphism	-
Q02548	PAX5_HUMAN	338	G	V	Polymorphism	-
Q02548	PAX5_HUMAN	26	V	G	Polymorphism	-
Q02548	PAX5_HUMAN	301	I	T	Polymorphism	-
Q02548	PAX5_HUMAN	139	I	T	Polymorphism	-
Q02548	PAX5_HUMAN	80	P	R	Polymorphism	-
Q02548	PAX5_HUMAN	59	R	G	Polymorphism	-
Q02548	PAX5_HUMAN	183	G	S	Disease	Leukemia, acute lymphoblastic, 3 (ALL3) [MIM:613065]
Q02548	PAX5_HUMAN	322	A	T	Polymorphism	-
Q02548	PAX5_HUMAN	213	S	L	Polymorphism	-
Q02556	IRF8_HUMAN	108	K	E	Disease	Immunodeficiency 32B (IMD32B) [MIM:226990]
Q02556	IRF8_HUMAN	80	T	A	Disease	Immunodeficiency 32A (IMD32A) [MIM:614893]
Q02556	IRF8_HUMAN	197	A	T	Unclassified	A breast cancer sample
Q02556	IRF8_HUMAN	81	R	K	Unclassified	A breast cancer sample
Q02641	CACB1_HUMAN	339	P	L	Unclassified	A colorectal cancer sample
Q02643	GHRHR_HUMAN	422	M	T	Polymorphism	-
Q02643	GHRHR_HUMAN	57	A	T	Polymorphism	-
Q02643	GHRHR_HUMAN	222	A	E	Disease	Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]
Q02643	GHRHR_HUMAN	225	V	I	Polymorphism	-
Q02643	GHRHR_HUMAN	242	F	C	Disease	Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]
Q02643	GHRHR_HUMAN	176	A	V	Disease	Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]
Q02643	GHRHR_HUMAN	45	A	T	Unclassified	A colorectal cancer sample
Q02643	GHRHR_HUMAN	329	K	E	Disease	Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]
Q02643	GHRHR_HUMAN	121	E	D	Polymorphism	-
Q02643	GHRHR_HUMAN	144	L	H	Disease	Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]
Q02742	GCNT1_HUMAN	152	I	V	Polymorphism	-
Q02742	GCNT1_HUMAN	158	S	C	Polymorphism	-
Q02747	GUC2A_HUMAN	7	S	F	Polymorphism	-
Q02750	MP2K1_HUMAN	128	G	V	Disease	Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279]
Q02750	MP2K1_HUMAN	53	F	S	Disease	Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279]
Q02750	MP2K1_HUMAN	130	Y	C	Disease	Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279]
Q02763	TIE2_HUMAN	925	A	S	Disease	Dominantly inherited venous malformations (VMCM) [MIM:600195]
Q02763	TIE2_HUMAN	915	R	H	Disease	Dominantly inherited venous malformations (VMCM) [MIM:600195]
Q02763	TIE2_HUMAN	919	V	L	Disease	Dominantly inherited venous malformations (VMCM) [MIM:600195]
Q02763	TIE2_HUMAN	849	R	W	Disease	Dominantly inherited venous malformations (VMCM) [MIM:600195]
Q02763	TIE2_HUMAN	897	Y	F	Unclassified	-
Q02763	TIE2_HUMAN	917	S	I	Unclassified	-
Q02763	TIE2_HUMAN	611	Y	C	Disease	Glaucoma 3, primary congenital, E (GLC3E) [MIM:617272]
Q02763	TIE2_HUMAN	914	L	F	Unclassified	-
Q02763	TIE2_HUMAN	148	I	T	Polymorphism	-
Q02763	TIE2_HUMAN	915	R	C	Unclassified	-
Q02763	TIE2_HUMAN	897	Y	C	Disease	Dominantly inherited venous malformations (VMCM) [MIM:600195]
Q02763	TIE2_HUMAN	1124	A	V	Unclassified	A renal clear cell carcinoma sample
Q02763	TIE2_HUMAN	918	R	C	Disease	Dominantly inherited venous malformations (VMCM) [MIM:600195]
Q02763	TIE2_HUMAN	346	Q	P	Polymorphism	-
Q02763	TIE2_HUMAN	724	A	T	Polymorphism	-
Q02763	TIE2_HUMAN	897	Y	H	Unclassified	-
Q02763	TIE2_HUMAN	600	V	L	Polymorphism	-
Q02763	TIE2_HUMAN	1100	K	N	Disease	Dominantly inherited venous malformations (VMCM) [MIM:600195]
Q02763	TIE2_HUMAN	233	C	Y	Disease	Glaucoma 3, primary congenital, E (GLC3E) [MIM:617272]
Q02763	TIE2_HUMAN	676	V	I	Polymorphism	-
Q02763	TIE2_HUMAN	486	V	I	Polymorphism	-
Q02763	TIE2_HUMAN	294	K	N	Unclassified	Glaucoma 3, primary congenital, E (GLC3E) [MIM:617272]
Q02763	TIE2_HUMAN	634	L	F	Polymorphism	-
Q02763	TIE2_HUMAN	117	K	N	Unclassified	Breast cancer samples
Q02763	TIE2_HUMAN	915	R	L	Unclassified	-
Q02763	TIE2_HUMAN	391	T	I	Polymorphism	-
Q02763	TIE2_HUMAN	883	P	A	Unclassified	An ovarian serous carcinoma sample
Q02763	TIE2_HUMAN	897	Y	S	Disease	Dominantly inherited venous malformations (VMCM) [MIM:600195]
Q02763	TIE2_HUMAN	226	A	V	Polymorphism	-
Q02779	M3K10_HUMAN	107	G	E	Unclassified	A metastatic melanoma sample
Q02779	M3K10_HUMAN	168	P	Q	Polymorphism	-
Q02790	FKBP4_HUMAN	436	T	P	Polymorphism	-
Q02809	PLOD1_HUMAN	446	W	G	Disease	Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400]
Q02809	PLOD1_HUMAN	678	G	R	Disease	Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400]
Q02809	PLOD1_HUMAN	612	W	C	Disease	Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400]
Q02809	PLOD1_HUMAN	123	Q	H	Unclassified	A breast cancer sample
Q02809	PLOD1_HUMAN	120	A	S	Polymorphism	-
Q02809	PLOD1_HUMAN	667	A	T	Disease	Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400]
Q02809	PLOD1_HUMAN	706	H	R	Disease	Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400]
Q02809	PLOD1_HUMAN	67	E	D	Polymorphism	-
Q02809	PLOD1_HUMAN	84	A	T	Polymorphism	-
Q02809	PLOD1_HUMAN	99	A	T	Polymorphism	-
Q02817	MUC2_HUMAN	1768	P	H	Polymorphism	-
Q02817	MUC2_HUMAN	2524	T	P	Polymorphism	-
Q02817	MUC2_HUMAN	2154	I	T	Polymorphism	-
Q02817	MUC2_HUMAN	2653	Q	L	Polymorphism	-
Q02817	MUC2_HUMAN	832	G	S	Polymorphism	-
Q02817	MUC2_HUMAN	116	V	M	Polymorphism	-
Q02817	MUC2_HUMAN	2524	T	S	Polymorphism	-
Q02817	MUC2_HUMAN	1619	S	R	Polymorphism	-
Q02817	MUC2_HUMAN	1689	P	L	Polymorphism	-
Q02817	MUC2_HUMAN	2653	Q	P	Polymorphism	-
Q02817	MUC2_HUMAN	58	L	P	Polymorphism	-
Q02818	NUCB1_HUMAN	399	R	Q	Polymorphism	-
Q02818	NUCB1_HUMAN	338	M	V	Polymorphism	-
Q02833	RASF7_HUMAN	89	P	A	Polymorphism	-
Q02833	RASF7_HUMAN	156	R	Q	Polymorphism	-
Q02846	GUC2D_HUMAN	795	R	Q	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	949	I	T	Disease	Cone-rod dystrophy 6 (CORD6) [MIM:601777]
Q02846	GUC2D_HUMAN	849	T	A	Disease	Cone-rod dystrophy 6 (CORD6) [MIM:601777]
Q02846	GUC2D_HUMAN	55	T	M	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	660	R	Q	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	768	R	W	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	52	A	S	Unclassified	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	838	R	C	Disease	Cone-rod dystrophy 6 (CORD6) [MIM:601777]
Q02846	GUC2D_HUMAN	838	R	P	Disease	Cone-rod dystrophy 6 (CORD6) [MIM:601777]
Q02846	GUC2D_HUMAN	784	M	R	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	838	R	G	Disease	Cone-rod dystrophy 6 (CORD6) [MIM:601777]
Q02846	GUC2D_HUMAN	933	V	A	Unclassified	Choroidal dystrophy, central areolar, 1 (CACD1) [MIM:215500]
Q02846	GUC2D_HUMAN	21	W	R	Polymorphism	-
Q02846	GUC2D_HUMAN	602	R	W	Polymorphism	-
Q02846	GUC2D_HUMAN	701	P	S	Polymorphism	-
Q02846	GUC2D_HUMAN	1007	S	L	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	722	R	W	Polymorphism	-
Q02846	GUC2D_HUMAN	837	E	D	Disease	Cone-rod dystrophy 6 (CORD6) [MIM:601777]
Q02846	GUC2D_HUMAN	640	W	L	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	507	V	M	Polymorphism	-
Q02846	GUC2D_HUMAN	954	L	P	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	838	R	H	Disease	Cone-rod dystrophy 6 (CORD6) [MIM:601777]
Q02846	GUC2D_HUMAN	438	R	C	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	728	D	H	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	362	A	S	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	734	I	A	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	105	C	Y	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	573	I	V	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	565	F	S	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	693	A	E	Polymorphism	-
Q02846	GUC2D_HUMAN	858	P	S	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	431	G	D	Unclassified	A metastatic melanoma sample
Q02846	GUC2D_HUMAN	312	T	M	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	331	R	S	Polymorphism	-
Q02846	GUC2D_HUMAN	782	L	H	Polymorphism	-
Q02846	GUC2D_HUMAN	328	A	V	Polymorphism	-
Q02846	GUC2D_HUMAN	103	E	V	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02846	GUC2D_HUMAN	325	L	R	Unclassified	-
Q02846	GUC2D_HUMAN	325	L	P	Disease	Leber congenital amaurosis 1 (LCA1) [MIM:204000]
Q02878	RL6_HUMAN	100	K	Q	Unclassified	A colorectal cancer sample
Q02878	RL6_HUMAN	237	K	E	Polymorphism	-
Q02878	RL6_HUMAN	227	H	R	Polymorphism	-
Q02880	TOP2B_HUMAN	63	H	Y	Disease	-
Q02928	CP4AB_HUMAN	434	F	S	Polymorphism	-
Q02928	CP4AB_HUMAN	226	N	S	Polymorphism	-
Q02928	CP4AB_HUMAN	353	S	G	Polymorphism	-
Q02952	AKA12_HUMAN	240	E	K	Unclassified	A colorectal cancer sample
Q02952	AKA12_HUMAN	117	K	E	Polymorphism	-
Q02952	AKA12_HUMAN	1096	V	I	Polymorphism	-
Q02952	AKA12_HUMAN	987	A	S	Polymorphism	-
Q02952	AKA12_HUMAN	216	K	Q	Polymorphism	-
Q02952	AKA12_HUMAN	1600	E	D	Polymorphism	-
Q02952	AKA12_HUMAN	1355	E	K	Polymorphism	-
Q02952	AKA12_HUMAN	920	E	G	Polymorphism	-
Q02952	AKA12_HUMAN	1296	R	L	Polymorphism	-
Q02952	AKA12_HUMAN	1689	E	D	Polymorphism	-
Q02962	PAX2_HUMAN	130	P	S	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	61	S	I	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	80	P	L	Disease	Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002]
Q02962	PAX2_HUMAN	329	T	A	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	130	P	H	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	84	G	S	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	334	A	V	Polymorphism	-
Q02962	PAX2_HUMAN	189	G	R	Disease	Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002]
Q02962	PAX2_HUMAN	139	I	V	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	56	R	Q	Disease	Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002]
Q02962	PAX2_HUMAN	150	T	A	Disease	Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002]
Q02962	PAX2_HUMAN	298	P	S	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	133	S	F	Disease	Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002]
Q02962	PAX2_HUMAN	295	A	V	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	61	S	N	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	175	S	T	Polymorphism	-
Q02962	PAX2_HUMAN	296	L	P	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	117	R	P	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	69	L	P	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	33	L	R	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	24	G	E	Disease	-
Q02962	PAX2_HUMAN	76	G	S	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	2	D	G	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	71	R	T	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02962	PAX2_HUMAN	164	T	N	Disease	Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002]
Q02962	PAX2_HUMAN	160	A	T	Polymorphism	-
Q02962	PAX2_HUMAN	387	S	N	Unclassified	-
Q02962	PAX2_HUMAN	25	G	V	Disease	Papillorenal syndrome (PAPRS) [MIM:120330]
Q02985	FHR3_HUMAN	71	H	Y	Polymorphism	-
Q03001	DYST_HUMAN	1319	N	K	Polymorphism	-
Q03001	DYST_HUMAN	2332	Q	R	Polymorphism	-
Q03001	DYST_HUMAN	5138	T	A	Polymorphism	-
Q03001	DYST_HUMAN	3720	Q	R	Polymorphism	-
Q03013	GSTM4_HUMAN	160	A	V	Polymorphism	-
Q03013	GSTM4_HUMAN	211	R	K	Polymorphism	-
Q03013	GSTM4_HUMAN	208	L	V	Polymorphism	-
Q03013	GSTM4_HUMAN	2	S	P	Polymorphism	-
Q03013	GSTM4_HUMAN	212	V	M	Polymorphism	-
Q03013	GSTM4_HUMAN	209	Y	F	Polymorphism	-
Q03060	CREM_HUMAN	254	Q	R	Polymorphism	-
Q03112	MECOM_HUMAN	930	H	R	Disease	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738]
Q03112	MECOM_HUMAN	929	R	W	Disease	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738]
Q03112	MECOM_HUMAN	120	P	S	Polymorphism	-
Q03112	MECOM_HUMAN	295	Q	R	Polymorphism	-
Q03112	MECOM_HUMAN	935	T	A	Disease	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738]
Q03113	GNA12_HUMAN	68	S	G	Polymorphism	-
Q03113	GNA12_HUMAN	242	F	L	Polymorphism	-
Q03113	GNA12_HUMAN	330	Y	H	Polymorphism	-
Q03135	CAV1_HUMAN	132	P	L	Unclassified	Breast cancer
Q03154	ACY1_HUMAN	393	R	H	Disease	Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154	ACY1_HUMAN	197	R	W	Disease	Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154	ACY1_HUMAN	381	E	D	Unclassified	A breast cancer sample
Q03154	ACY1_HUMAN	378	R	W	Disease	Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154	ACY1_HUMAN	353	R	C	Disease	Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154	ACY1_HUMAN	233	E	D	Disease	Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154	ACY1_HUMAN	179	N	S	Polymorphism	-
Q03154	ACY1_HUMAN	378	R	Q	Disease	Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154	ACY1_HUMAN	386	R	C	Disease	Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03164	KMT2A_HUMAN	53	A	V	Polymorphism	-
Q03164	KMT2A_HUMAN	3714	V	I	Polymorphism	-
Q03164	KMT2A_HUMAN	3773	S	A	Polymorphism	-
Q03164	KMT2A_HUMAN	30	A	G	Polymorphism	-
Q03164	KMT2A_HUMAN	2387	Q	R	Polymorphism	-
Q03164	KMT2A_HUMAN	502	E	K	Polymorphism	-
Q03164	KMT2A_HUMAN	2319	S	T	Polymorphism	-
Q03164	KMT2A_HUMAN	2354	P	R	Polymorphism	-
Q03164	KMT2A_HUMAN	1975	Q	P	Polymorphism	-
Q03167	TGBR3_HUMAN	163	W	L	Polymorphism	-
Q03167	TGBR3_HUMAN	777	P	S	Polymorphism	-
Q03167	TGBR3_HUMAN	765	G	R	Polymorphism	-
Q03167	TGBR3_HUMAN	635	A	T	Polymorphism	-
Q03167	TGBR3_HUMAN	351	F	I	Polymorphism	-
Q03167	TGBR3_HUMAN	15	S	F	Polymorphism	-
Q03167	TGBR3_HUMAN	14	S	N	Polymorphism	-
Q03169	TNAP2_HUMAN	282	Q	E	Polymorphism	-
Q03169	TNAP2_HUMAN	565	T	I	Polymorphism	-
Q03169	TNAP2_HUMAN	580	T	M	Polymorphism	-
Q03188	CENPC_HUMAN	389	G	D	Polymorphism	-
Q03188	CENPC_HUMAN	341	L	F	Polymorphism	-
Q03252	LMNB2_HUMAN	157	H	Y	Disease	Epilepsy, progressive myoclonic 9 (EPM9) [MIM:616540]
Q03252	LMNB2_HUMAN	236	R	W	Unclassified	A colorectal cancer sample
Q03252	LMNB2_HUMAN	427	A	T	Disease	Partial acquired lipodystrophy (APLD) [MIM:608709]
Q03252	LMNB2_HUMAN	235	R	Q	Polymorphism	-
Q03252	LMNB2_HUMAN	252	Y	H	Disease	Partial acquired lipodystrophy (APLD) [MIM:608709]
Q03393	PTPS_HUMAN	99	Y	C	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	87	P	S	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	97	V	M	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	67	T	M	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	70	V	D	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	124	V	L	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	25	R	Q	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	25	R	G	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	35	E	G	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	116	D	G	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	96	D	N	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	129	K	E	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	136	D	G	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	16	R	C	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	26	L	F	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	100	F	V	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	106	T	M	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	87	P	L	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	56	V	M	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	47	N	D	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	36	N	K	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	114	I	V	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	136	D	V	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03393	PTPS_HUMAN	52	N	S	Disease	Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
Q03395	ROM1_HUMAN	16	R	H	Polymorphism	-
Q03395	ROM1_HUMAN	271	M	T	Polymorphism	-
Q03395	ROM1_HUMAN	75	G	D	Polymorphism	-
Q03395	ROM1_HUMAN	118	G	A	Polymorphism	-
Q03395	ROM1_HUMAN	265	A	T	Polymorphism	-
Q03395	ROM1_HUMAN	242	R	Q	Polymorphism	-
Q03395	ROM1_HUMAN	108	T	M	Polymorphism	-
Q03395	ROM1_HUMAN	60	P	T	Polymorphism	-
Q03395	ROM1_HUMAN	229	R	H	Polymorphism	-
Q03403	TFF2_HUMAN	3	R	W	Polymorphism	-
Q03405	UPAR_HUMAN	86	T	A	Polymorphism	-
Q03405	UPAR_HUMAN	281	N	K	Polymorphism	-
Q03405	UPAR_HUMAN	220	K	R	Polymorphism	-
Q03405	UPAR_HUMAN	105	R	Q	Polymorphism	-
Q03405	UPAR_HUMAN	55	E	G	Polymorphism	-
Q03405	UPAR_HUMAN	317	L	P	Polymorphism	-
Q03405	UPAR_HUMAN	297	D	A	Polymorphism	-
Q03426	KIME_HUMAN	41	L	P	Disease	Porokeratosis 3, multiple types (POROK3) [MIM:175900]
Q03426	KIME_HUMAN	250	V	I	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	20	H	P	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	52	S	N	Polymorphism	-
Q03426	KIME_HUMAN	255	L	P	Disease	Porokeratosis 3, multiple types (POROK3) [MIM:175900]
Q03426	KIME_HUMAN	264	L	F	Disease	Mevalonic aciduria (MEVA) [MIM:610377]
Q03426	KIME_HUMAN	20	H	Q	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	39	L	P	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	310	V	M	Disease	Mevalonic aciduria (MEVA) [MIM:610377]
Q03426	KIME_HUMAN	334	A	T	Disease	Mevalonic aciduria (MEVA) [MIM:610377]
Q03426	KIME_HUMAN	268	I	T	Disease	Mevalonic aciduria (MEVA) [MIM:610377]
Q03426	KIME_HUMAN	148	A	T	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	243	T	I	Disease	Mevalonic aciduria (MEVA) [MIM:610377]
Q03426	KIME_HUMAN	265	L	P	Disease	Mevalonic aciduria (MEVA) [MIM:610377]
Q03426	KIME_HUMAN	167	P	L	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	135	S	L	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	265	L	R	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	326	G	R	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	20	H	P	Disease	Mevalonic aciduria (MEVA) [MIM:610377]
Q03426	KIME_HUMAN	301	N	T	Disease	Mevalonic aciduria (MEVA) [MIM:610377]
Q03426	KIME_HUMAN	202	G	R	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	291	Y	D	Disease	Porokeratosis 3, multiple types (POROK3) [MIM:175900]
Q03426	KIME_HUMAN	12	G	R	Disease	Porokeratosis 3, multiple types (POROK3) [MIM:175900]
Q03426	KIME_HUMAN	376	G	S	Disease	Porokeratosis 3, multiple types (POROK3) [MIM:175900]
Q03426	KIME_HUMAN	377	V	I	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	20	H	N	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	268	I	T	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	150	S	L	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	132	V	I	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	335	G	S	Polymorphism	-
Q03426	KIME_HUMAN	312	H	R	Disease	Porokeratosis 3, multiple types (POROK3) [MIM:175900]
Q03426	KIME_HUMAN	310	V	M	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	365	F	S	Disease	Porokeratosis 3, multiple types (POROK3) [MIM:175900]
Q03426	KIME_HUMAN	211	G	E	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	356	T	M	Polymorphism	-
Q03426	KIME_HUMAN	376	G	V	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	215	R	Q	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	279	L	P	Disease	Porokeratosis 3, multiple types (POROK3) [MIM:175900]
Q03426	KIME_HUMAN	202	G	R	Disease	Porokeratosis 3, multiple types (POROK3) [MIM:175900]
Q03426	KIME_HUMAN	171	G	R	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03426	KIME_HUMAN	309	G	S	Disease	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q03431	PTH1R_HUMAN	458	I	R	Disease	Metaphyseal chondrodysplasia, Jansen type (MCDJ) [MIM:156400]
Q03431	PTH1R_HUMAN	223	H	R	Disease	Metaphyseal chondrodysplasia, Jansen type (MCDJ) [MIM:156400]
Q03431	PTH1R_HUMAN	410	T	R	Disease	Metaphyseal chondrodysplasia, Jansen type (MCDJ) [MIM:156400]
Q03431	PTH1R_HUMAN	150	R	C	Unclassified	Enchondromatosis multiple (ENCHOM) [MIM:166000]
Q03431	PTH1R_HUMAN	132	P	L	Disease	Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]
Q03431	PTH1R_HUMAN	410	T	P	Disease	Metaphyseal chondrodysplasia, Jansen type (MCDJ) [MIM:156400]
Q03468	ERCC6_HUMAN	255	K	T	Polymorphism	-
Q03468	ERCC6_HUMAN	1097	M	V	Polymorphism	-
Q03468	ERCC6_HUMAN	652	R	L	Unclassified	A colorectal cancer sample
Q03468	ERCC6_HUMAN	1372	G	R	Polymorphism	-
Q03468	ERCC6_HUMAN	1355	D	E	Polymorphism	-
Q03468	ERCC6_HUMAN	687	S	L	Disease	Cockayne syndrome B (CSB) [MIM:133540]
Q03468	ERCC6_HUMAN	871	L	P	Disease	Cerebro-oculo-facio-skeletal syndrome 1 (COFS1) [MIM:214150]
Q03468	ERCC6_HUMAN	1382	G	R	Polymorphism	-
Q03468	ERCC6_HUMAN	1002	Y	C	Polymorphism	-
Q03468	ERCC6_HUMAN	1410	G	R	Polymorphism	-
Q03468	ERCC6_HUMAN	1119	E	V	Unclassified	A breast cancer sample
Q03468	ERCC6_HUMAN	686	W	C	Disease	Cockayne syndrome B (CSB) [MIM:133540]
Q03468	ERCC6_HUMAN	942	T	M	Polymorphism	-
Q03468	ERCC6_HUMAN	1441	T	I	Polymorphism	-
Q03468	ERCC6_HUMAN	1322	G	V	Polymorphism	-
Q03468	ERCC6_HUMAN	851	W	R	Disease	Cockayne syndrome B (CSB) [MIM:133540]
Q03468	ERCC6_HUMAN	1413	Q	R	Polymorphism	-
Q03468	ERCC6_HUMAN	987	L	P	Disease	Cerebro-oculo-facio-skeletal syndrome 1 (COFS1) [MIM:214150]
Q03468	ERCC6_HUMAN	1095	P	R	Polymorphism	-
Q03468	ERCC6_HUMAN	1042	P	L	Disease	Cockayne syndrome B (CSB) [MIM:133540]
Q03468	ERCC6_HUMAN	670	R	W	Disease	Cockayne syndrome B (CSB) [MIM:133540]
Q03468	ERCC6_HUMAN	1213	R	G	Polymorphism	-
Q03468	ERCC6_HUMAN	1308	V	L	Polymorphism	-
Q03468	ERCC6_HUMAN	1220	T	I	Polymorphism	-
Q03468	ERCC6_HUMAN	425	D	A	Polymorphism	-
Q03468	ERCC6_HUMAN	591	P	A	Unclassified	A colorectal cancer sample
Q03468	ERCC6_HUMAN	446	G	D	Polymorphism	-
Q03468	ERCC6_HUMAN	1038	R	T	Unclassified	A breast cancer sample
Q03468	ERCC6_HUMAN	399	G	D	Polymorphism	-
Q03468	ERCC6_HUMAN	1119	E	Q	Unclassified	A breast cancer sample
Q03468	ERCC6_HUMAN	134	R	W	Polymorphism	-
Q03468	ERCC6_HUMAN	1230	R	P	Polymorphism	-
Q03468	ERCC6_HUMAN	957	V	G	Disease	Cockayne syndrome B (CSB) [MIM:133540]
Q03468	ERCC6_HUMAN	680	N	D	Disease	Cockayne syndrome B (CSB) [MIM:133540]
Q03518	TAP1_HUMAN	708	R	Q	Polymorphism	-
Q03518	TAP1_HUMAN	578	V	I	Polymorphism	-
Q03518	TAP1_HUMAN	479	G	C	Polymorphism	-
Q03518	TAP1_HUMAN	518	V	L	Polymorphism	-
Q03518	TAP1_HUMAN	170	L	V	Polymorphism	-
Q03518	TAP1_HUMAN	697	D	G	Polymorphism	-
Q03518	TAP1_HUMAN	430	A	V	Polymorphism	-
Q03518	TAP1_HUMAN	346	S	F	Polymorphism	-
Q03518	TAP1_HUMAN	768	Q	R	Polymorphism	-
Q03518	TAP1_HUMAN	719	R	Q	Unclassified	A lung cancer cell line deficient in MHC class I presentation
Q03518	TAP1_HUMAN	393	I	V	Polymorphism	-
Q03518	TAP1_HUMAN	304	V	L	Polymorphism	-
Q03518	TAP1_HUMAN	67	P	S	Polymorphism	-
Q03518	TAP1_HUMAN	77	G	R	Polymorphism	-
Q03519	TAP2_HUMAN	665	T	A	Polymorphism	-
Q03519	TAP2_HUMAN	513	A	S	Polymorphism	-
Q03519	TAP2_HUMAN	56	R	K	Polymorphism	-
Q03519	TAP2_HUMAN	577	M	V	Polymorphism	-
Q03519	TAP2_HUMAN	374	A	T	Polymorphism	-
Q03519	TAP2_HUMAN	467	V	I	Polymorphism	-
Q03519	TAP2_HUMAN	379	V	I	Polymorphism	-
Q03519	TAP2_HUMAN	565	A	T	Polymorphism	-
Q03519	TAP2_HUMAN	651	R	C	Polymorphism	-
Q03591	FHR1_HUMAN	157	H	Y	Polymorphism	-
Q03591	FHR1_HUMAN	175	E	Q	Polymorphism	-
Q03591	FHR1_HUMAN	159	L	V	Polymorphism	-
Q03591	FHR1_HUMAN	296	A	V	Polymorphism	-
Q03692	COAA1_HUMAN	582	Y	D	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	198	R	H	Polymorphism	-
Q03692	COAA1_HUMAN	591	C	R	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	27	M	T	Polymorphism	-
Q03692	COAA1_HUMAN	595	G	E	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	597	Y	H	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	598	Y	D	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	653	Q	P	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	614	L	P	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	644	L	R	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	603	V	M	Polymorphism	-
Q03692	COAA1_HUMAN	617	N	K	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	595	G	R	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	597	Y	C	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	651	W	R	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	600	S	P	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	618	G	V	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	18	G	R	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	18	G	E	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	98	G	R	Polymorphism	-
Q03692	COAA1_HUMAN	648	D	G	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	671	S	P	Disease	Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q03692	COAA1_HUMAN	545	G	R	Polymorphism	-
Q03701	CEBPZ_HUMAN	15	P	S	Polymorphism	-
Q03701	CEBPZ_HUMAN	102	V	I	Polymorphism	-
Q03701	CEBPZ_HUMAN	303	K	R	Polymorphism	-
Q03701	CEBPZ_HUMAN	639	N	S	Polymorphism	-
Q03721	KCNC4_HUMAN	318	D	Y	Polymorphism	-
Q03721	KCNC4_HUMAN	520	C	Y	Polymorphism	-
Q03721	KCNC4_HUMAN	516	R	Q	Polymorphism	-
Q03923	ZNF85_HUMAN	266	T	A	Polymorphism	-
Q03923	ZNF85_HUMAN	177	T	R	Polymorphism	-
Q03923	ZNF85_HUMAN	115	R	I	Polymorphism	-
Q03923	ZNF85_HUMAN	270	F	S	Polymorphism	-
Q03923	ZNF85_HUMAN	84	Q	R	Polymorphism	-
Q03923	ZNF85_HUMAN	60	K	T	Polymorphism	-
Q03923	ZNF85_HUMAN	184	G	R	Polymorphism	-
Q03924	ZN117_HUMAN	112	K	N	Polymorphism	-
Q03924	ZN117_HUMAN	83	C	Y	Polymorphism	-
Q03936	ZNF92_HUMAN	527	R	H	Polymorphism	-
Q03936	ZNF92_HUMAN	492	Q	R	Polymorphism	-
Q03936	ZNF92_HUMAN	122	A	V	Polymorphism	-
Q04118	PRB3_HUMAN	186	P	Q	Polymorphism	-
Q04118	PRB3_HUMAN	53	P	C	Unclassified	-
Q04323	UBXN1_HUMAN	56	L	F	Polymorphism	-
Q04446	GLGB_HUMAN	507	T	A	Polymorphism	-
Q04446	GLGB_HUMAN	334	I	V	Polymorphism	-
Q04446	GLGB_HUMAN	257	F	L	Disease	Glycogen storage disease 4 (GSD4) [MIM:232500]
Q04446	GLGB_HUMAN	190	R	G	Polymorphism	-
Q04446	GLGB_HUMAN	628	H	R	Disease	Glycogen storage disease 4 (GSD4) [MIM:232500]
Q04446	GLGB_HUMAN	524	R	Q	Disease	Polyglucosan body neuropathy, adult form (APBN) [MIM:263570]
Q04446	GLGB_HUMAN	545	H	R	Disease	Glycogen storage disease 4 (GSD4) [MIM:232500]
Q04446	GLGB_HUMAN	329	Y	S	Disease	Glycogen storage disease 4 (GSD4) [MIM:232500]
Q04446	GLGB_HUMAN	515	R	C	Disease	Glycogen storage disease 4 (GSD4) [MIM:232500]
Q04446	GLGB_HUMAN	524	R	Q	Disease	Glycogen storage disease 4 (GSD4) [MIM:232500]
Q04446	GLGB_HUMAN	265	T	S	Polymorphism	-
Q04446	GLGB_HUMAN	224	L	P	Disease	Glycogen storage disease 4 (GSD4) [MIM:232500]
Q04446	GLGB_HUMAN	515	R	H	Disease	Polyglucosan body neuropathy, adult form (APBN) [MIM:263570]
Q04609	FOLH1_HUMAN	475	H	Y	Polymorphism	-
Q04609	FOLH1_HUMAN	23	A	T	Unclassified	A colorectal cancer sample
Q04609	FOLH1_HUMAN	627	V	L	Polymorphism	-
Q04609	FOLH1_HUMAN	75	Y	H	Polymorphism	-
Q04637	IF4G1_HUMAN	686	G	C	Unclassified	-
Q04637	IF4G1_HUMAN	71	P	S	Polymorphism	-
Q04637	IF4G1_HUMAN	806	I	V	Polymorphism	-
Q04637	IF4G1_HUMAN	432	M	V	Polymorphism	-
Q04637	IF4G1_HUMAN	1229	P	A	Polymorphism	-
Q04637	IF4G1_HUMAN	1233	L	P	Polymorphism	-
Q04637	IF4G1_HUMAN	502	A	V	Disease	Parkinson disease 18 (PARK18) [MIM:614251]
Q04637	IF4G1_HUMAN	201	R	H	Unclassified	-
Q04637	IF4G1_HUMAN	1257	N	S	Polymorphism	-
Q04637	IF4G1_HUMAN	311	Y	C	Polymorphism	-
Q04637	IF4G1_HUMAN	829	T	S	Polymorphism	-
Q04637	IF4G1_HUMAN	1164	S	R	Unclassified	-
Q04637	IF4G1_HUMAN	1205	R	H	Disease	Parkinson disease 18 (PARK18) [MIM:614251]
Q04637	IF4G1_HUMAN	1197	R	W	Unclassified	-
Q04637	IF4G1_HUMAN	161	T	A	Polymorphism	-
Q04637	IF4G1_HUMAN	696	P	L	Unclassified	A colorectal cancer sample
Q04656	ATP7A_HUMAN	1007	A	V	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	637	S	L	Disease	Occipital horn syndrome (OHS) [MIM:304150]
Q04656	ATP7A_HUMAN	1100	L	P	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	727	G	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1282	K	E	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1350	K	E	Polymorphism	-
Q04656	ATP7A_HUMAN	853	G	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1044	D	G	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1325	A	V	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1118	G	D	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	767	V	L	Polymorphism	-
Q04656	ATP7A_HUMAN	1000	C	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	876	G	E	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1302	G	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	994	T	I	Disease	Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [MIM:300489]
Q04656	ATP7A_HUMAN	844	R	H	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1386	P	S	Disease	Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [MIM:300489]
Q04656	ATP7A_HUMAN	1305	D	A	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1344	S	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1304	N	K	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1362	A	V	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1006	L	P	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	860	G	V	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	924	Q	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1345	I	F	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1304	N	S	Disease	Occipital horn syndrome (OHS) [MIM:304150]
Q04656	ATP7A_HUMAN	703	R	H	Polymorphism	-
Q04656	ATP7A_HUMAN	669	I	T	Polymorphism	-
Q04656	ATP7A_HUMAN	1048	T	I	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1255	G	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	706	L	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1015	G	D	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1019	G	D	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1300	G	E	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1369	G	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1464	I	V	Polymorphism	-
Q04656	ATP7A_HUMAN	1397	S	F	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	873	L	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	876	G	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	629	A	P	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1302	G	V	Disease	Menkes disease (MNKD) [MIM:309400]
Q04656	ATP7A_HUMAN	1315	G	R	Disease	Menkes disease (MNKD) [MIM:309400]
Q04671	P_HUMAN	370	I	T	Polymorphism	-
Q04671	P_HUMAN	86	S	R	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	112	C	F	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	678	E	K	Unclassified	-
Q04671	P_HUMAN	387	T	M	Polymorphism	-
Q04671	P_HUMAN	617	I	L	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	241	P	R	Polymorphism	-
Q04671	P_HUMAN	688	L	F	Unclassified	-
Q04671	P_HUMAN	519	V	A	Polymorphism	-
Q04671	P_HUMAN	720	R	C	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	211	P	L	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	481	A	T	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	679	W	C	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	440	L	F	Polymorphism	-
Q04671	P_HUMAN	799	Q	H	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	722	I	T	Polymorphism	-
Q04671	P_HUMAN	198	P	L	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	27	G	R	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	350	V	M	Polymorphism	-
Q04671	P_HUMAN	305	R	W	Polymorphism	-
Q04671	P_HUMAN	652	W	R	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	736	S	L	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	385	F	I	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	394	M	I	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	489	N	D	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	724	A	P	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	10	R	W	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	290	R	G	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	446	M	V	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	440	L	H	Polymorphism	-
Q04671	P_HUMAN	368	A	V	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	395	M	L	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	257	A	D	Polymorphism	-
Q04671	P_HUMAN	773	A	T	Unclassified	A breast cancer sample
Q04671	P_HUMAN	443	V	I	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	336	A	V	Polymorphism	-
Q04671	P_HUMAN	334	A	V	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	787	A	V	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	560	R	H	Polymorphism	-
Q04671	P_HUMAN	549	H	Q	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	614	K	E	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	404	T	M	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	266	R	W	Polymorphism	-
Q04671	P_HUMAN	743	P	L	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	419	R	W	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	795	G	R	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	592	T	I	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	633	V	I	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	679	W	R	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	775	G	R	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	419	R	Q	Polymorphism	-
Q04671	P_HUMAN	614	K	N	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	473	I	S	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	827	Y	H	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	615	H	R	Polymorphism	-
Q04671	P_HUMAN	476	N	D	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04671	P_HUMAN	684	F	C	Disease	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]
Q04695	K1C17_HUMAN	91	L	P	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	102	V	M	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	88	M	K	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	95	L	Q	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	92	N	D	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	94	R	C	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	388	L	R	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	388	L	P	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	94	R	C	Disease	Steatocystoma multiplex (SM) [MIM:184500]
Q04695	K1C17_HUMAN	92	N	H	Disease	Steatocystoma multiplex (SM) [MIM:184500]
Q04695	K1C17_HUMAN	92	N	S	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	99	L	P	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	95	L	P	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	109	N	D	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	88	M	T	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	94	R	H	Polymorphism	-
Q04695	K1C17_HUMAN	94	R	P	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	98	Y	D	Disease	Pachyonychia congenita 2 (PC2) [MIM:167210]
Q04695	K1C17_HUMAN	88	M	T	Disease	Steatocystoma multiplex (SM) [MIM:184500]
Q04721	NOTC2_HUMAN	444	C	Y	Disease	Alagille syndrome 2 (ALGS2) [MIM:610205]
Q04721	NOTC2_HUMAN	1667	V	F	Polymorphism	-
Q04725	TLE2_HUMAN	381	S	G	Polymorphism	-
Q04726	TLE3_HUMAN	229	A	V	Polymorphism	-
Q04756	HGFA_HUMAN	231	F	L	Polymorphism	-
Q04756	HGFA_HUMAN	644	R	Q	Polymorphism	-
Q04756	HGFA_HUMAN	218	A	S	Polymorphism	-
Q04756	HGFA_HUMAN	225	V	M	Polymorphism	-
Q04756	HGFA_HUMAN	509	R	H	Polymorphism	-
Q04759	KPCT_HUMAN	240	K	N	Unclassified	A colorectal adenocarcinoma sample
Q04759	KPCT_HUMAN	306	D	V	Polymorphism	-
Q04759	KPCT_HUMAN	330	P	L	Polymorphism	-
Q04759	KPCT_HUMAN	354	D	N	Polymorphism	-
Q04760	LGUL_HUMAN	19	C	Y	Polymorphism	-
Q04760	LGUL_HUMAN	111	E	A	Polymorphism	-
Q04771	ACVR1_HUMAN	328	G	E	Disease	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771	ACVR1_HUMAN	41	S	F	Polymorphism	-
Q04771	ACVR1_HUMAN	375	R	P	Disease	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771	ACVR1_HUMAN	356	G	D	Disease	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771	ACVR1_HUMAN	206	R	H	Disease	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771	ACVR1_HUMAN	15	A	G	Polymorphism	-
Q04771	ACVR1_HUMAN	328	G	R	Disease	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771	ACVR1_HUMAN	202	R	I	Disease	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771	ACVR1_HUMAN	115	P	S	Unclassified	A melanoma sample
Q04771	ACVR1_HUMAN	328	G	W	Disease	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771	ACVR1_HUMAN	47	H	Q	Polymorphism	-
Q04771	ACVR1_HUMAN	207	Q	E	Disease	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04826	1B40_HUMAN	167	T	S	Polymorphism	-
Q04826	1B40_HUMAN	17	V	L	Polymorphism	-
Q04826	1B40_HUMAN	306	V	I	Polymorphism	-
Q04826	1B40_HUMAN	121	S	R	Polymorphism	-
Q04826	1B40_HUMAN	137	H	Y	Polymorphism	-
Q04826	1B40_HUMAN	187	E	L	Polymorphism	-
Q04826	1B40_HUMAN	91	S	F	Polymorphism	-
Q04826	1B40_HUMAN	121	S	T	Polymorphism	-
Q04826	1B40_HUMAN	140	Y	N	Polymorphism	-
Q04826	1B40_HUMAN	155	R	S	Polymorphism	-
Q04826	1B40_HUMAN	349	C	S	Polymorphism	-
Q04826	1B40_HUMAN	119	L	W	Polymorphism	-
Q04826	1B40_HUMAN	127	V	L	Polymorphism	-
Q04826	1B40_HUMAN	9	L	V	Polymorphism	-
Q04826	1B40_HUMAN	171	W	L	Polymorphism	-
Q04826	1B40_HUMAN	329	A	T	Polymorphism	-
Q04826	1B40_HUMAN	204	Q	E	Polymorphism	-
Q04826	1B40_HUMAN	180	L	R	Polymorphism	-
Q04826	1B40_HUMAN	87	E	N	Polymorphism	-
Q04826	1B40_HUMAN	176	V	E	Polymorphism	-
Q04826	1B40_HUMAN	349	C	Y	Polymorphism	-
Q04826	1B40_HUMAN	101	S	N	Polymorphism	-
Q04826	1B40_HUMAN	138	N	D	Polymorphism	-
Q04826	1B40_HUMAN	140	Y	S	Polymorphism	-
Q04828	AK1C1_HUMAN	172	Q	L	Polymorphism	-
Q04828	AK1C1_HUMAN	170	R	H	Polymorphism	-
Q04844	ACHE_HUMAN	289	L	F	Disease	Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809]
Q04844	ACHE_HUMAN	431	A	P	Disease	Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324]
Q04844	ACHE_HUMAN	141	P	L	Disease	Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324]
Q04844	ACHE_HUMAN	98	L	P	Disease	Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809]
Q04844	ACHE_HUMAN	75	W	R	Disease	Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324]
Q04844	ACHE_HUMAN	265	P	L	Disease	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C) [MIM:608931]
Q04844	ACHE_HUMAN	167	R	L	Disease	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C) [MIM:608931]
Q04844	ACHE_HUMAN	163	S	L	Disease	Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324]
Q04844	ACHE_HUMAN	331	R	W	Disease	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C) [MIM:608931]
Q04844	ACHE_HUMAN	18	G	V	Polymorphism	-
Q04844	ACHE_HUMAN	284	T	P	Disease	Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809]
Q04844	ACHE_HUMAN	241	L	F	Disease	Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809]
Q04844	ACHE_HUMAN	13	G	R	Disease	Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324]
Q04844	ACHE_HUMAN	285	V	A	Disease	Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809]
Q04912	RON_HUMAN	356	G	D	Polymorphism	-
Q04912	RON_HUMAN	523	Q	R	Polymorphism	-
Q04912	RON_HUMAN	1360	Y	C	Polymorphism	-
Q04912	RON_HUMAN	670	V	G	Unclassified	Nasopharyngeal carcinoma, 3 (NPCA3) [MIM:617075]
Q04912	RON_HUMAN	1304	R	G	Polymorphism	-
Q04912	RON_HUMAN	440	N	S	Polymorphism	-
Q04912	RON_HUMAN	504	R	C	Polymorphism	-
Q04912	RON_HUMAN	613	Q	P	Polymorphism	-
Q04912	RON_HUMAN	465	G	D	Polymorphism	-
Q04912	RON_HUMAN	1335	R	G	Polymorphism	-
Q04912	RON_HUMAN	973	A	T	Unclassified	Nasopharyngeal carcinoma, 3 (NPCA3) [MIM:617075]
Q04912	RON_HUMAN	327	A	T	Unclassified	Nasopharyngeal carcinoma, 3 (NPCA3) [MIM:617075]
Q04912	RON_HUMAN	900	V	M	Polymorphism	-
Q04912	RON_HUMAN	322	R	Q	Polymorphism	-
Q04912	RON_HUMAN	185	R	C	Polymorphism	-
Q04912	RON_HUMAN	1195	G	S	Polymorphism	-
Q04912	RON_HUMAN	75	R	S	Polymorphism	-
Q04912	RON_HUMAN	306	R	H	Disease	Nasopharyngeal carcinoma, 3 (NPCA3) [MIM:617075]
Q04912	RON_HUMAN	434	S	L	Polymorphism	-
Q04912	RON_HUMAN	95	P	T	Polymorphism	-
Q04941	PLP2_HUMAN	91	A	S	Polymorphism	-
Q05066	SRY_HUMAN	91	S	G	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	78	M	T	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	18	S	N	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	109	F	S	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	101	L	H	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	3	S	L	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	60	V	L	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	95	G	E	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	131	P	R	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	60	V	A	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	108	P	R	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	125	P	L	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	106	K	I	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	67	F	V	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	64	M	I	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	127	Y	F	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	95	G	R	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	68	I	T	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	127	Y	C	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	113	A	T	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	90	I	M	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	76	R	S	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	62	R	G	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	87	N	Y	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	75	R	M	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	64	M	R	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05066	SRY_HUMAN	133	R	W	Disease	46,XY sex reversal 1 (SRXY1) [MIM:400044]
Q05086	UBE3A_HUMAN	679	T	I	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	850	P	L	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	481	P	L	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	500	R	P	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	260	L	Q	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	589	M	K	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	260	L	H	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	611	Q	E	Polymorphism	-
Q05086	UBE3A_HUMAN	785	V	I	Polymorphism	-
Q05086	UBE3A_HUMAN	611	Q	P	Polymorphism	-
Q05086	UBE3A_HUMAN	156	V	G	Polymorphism	-
Q05086	UBE3A_HUMAN	140	C	R	Polymorphism	-
Q05086	UBE3A_HUMAN	293	N	T	Polymorphism	-
Q05086	UBE3A_HUMAN	290	V	G	Polymorphism	-
Q05086	UBE3A_HUMAN	286	L	W	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	358	S	T	Polymorphism	-
Q05086	UBE3A_HUMAN	201	A	T	Polymorphism	-
Q05086	UBE3A_HUMAN	235	D	V	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	44	C	Y	Polymorphism	-
Q05086	UBE3A_HUMAN	568	G	R	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	458	L	P	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	372	S	P	Polymorphism	-
Q05086	UBE3A_HUMAN	501	M	I	Polymorphism	-
Q05086	UBE3A_HUMAN	129	T	K	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	713	F	C	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	62	R	H	Polymorphism	-
Q05086	UBE3A_HUMAN	607	E	Q	Unclassified	Angelman syndrome (AS) [MIM:105830]
Q05086	UBE3A_HUMAN	696	L	R	Polymorphism	-
Q05193	DYN1_HUMAN	744	D	N	Polymorphism	-
Q05193	DYN1_HUMAN	206	K	N	Disease	Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346]
Q05193	DYN1_HUMAN	177	A	P	Disease	Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346]
Q05193	DYN1_HUMAN	359	G	A	Disease	Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346]
Q05193	DYN1_HUMAN	237	R	W	Disease	Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346]
Q05209	PTN12_HUMAN	706	E	K	Polymorphism	-
Q05209	PTN12_HUMAN	61	K	R	Unclassified	Colon cancer
Q05209	PTN12_HUMAN	573	T	A	Polymorphism	-
Q05209	PTN12_HUMAN	322	V	I	Polymorphism	-
Q05315	LEG10_HUMAN	28	A	V	Polymorphism	-
Q05329	DCE2_HUMAN	124	K	N	Polymorphism	-
Q05329	DCE2_HUMAN	232	G	E	Polymorphism	-
Q05329	DCE2_HUMAN	153	P	Q	Polymorphism	-
Q05329	DCE2_HUMAN	326	G	A	Polymorphism	-
Q05329	DCE2_HUMAN	286	K	R	Polymorphism	-
Q05329	DCE2_HUMAN	375	R	Q	Polymorphism	-
Q05329	DCE2_HUMAN	12	G	R	Polymorphism	-
Q05397	FAK1_HUMAN	1030	D	E	Polymorphism	-
Q05397	FAK1_HUMAN	793	V	A	Unclassified	A glioblastoma multiforme sample
Q05397	FAK1_HUMAN	292	H	P	Polymorphism	-
Q05397	FAK1_HUMAN	292	H	Q	Polymorphism	-
Q05397	FAK1_HUMAN	1044	K	E	Unclassified	A metastatic melanoma sample
Q05469	LIPS_HUMAN	194	A	V	Polymorphism	-
Q05469	LIPS_HUMAN	497	K	N	Polymorphism	-
Q05469	LIPS_HUMAN	100	Y	H	Polymorphism	-
Q05469	LIPS_HUMAN	499	N	H	Polymorphism	-
Q05469	LIPS_HUMAN	177	S	T	Polymorphism	-
Q05469	LIPS_HUMAN	146	P	S	Polymorphism	-
Q05469	LIPS_HUMAN	938	R	S	Polymorphism	-
Q05469	LIPS_HUMAN	127	Q	H	Polymorphism	-
Q05469	LIPS_HUMAN	146	P	Q	Unclassified	A breast cancer sample
Q05469	LIPS_HUMAN	217	R	Q	Polymorphism	-
Q05481	ZNF91_HUMAN	521	E	K	Polymorphism	-
Q05481	ZNF91_HUMAN	1011	R	I	Polymorphism	-
Q05481	ZNF91_HUMAN	896	T	A	Polymorphism	-
Q05481	ZNF91_HUMAN	1033	R	Q	Polymorphism	-
Q05481	ZNF91_HUMAN	386	A	T	Polymorphism	-
Q05481	ZNF91_HUMAN	1164	L	P	Polymorphism	-
Q05481	ZNF91_HUMAN	112	Y	H	Polymorphism	-
Q05481	ZNF91_HUMAN	1164	L	V	Polymorphism	-
Q05481	ZNF91_HUMAN	336	T	A	Polymorphism	-
Q05481	ZNF91_HUMAN	455	F	I	Polymorphism	-
Q05513	KPCZ_HUMAN	514	S	F	Unclassified	A colorectal cancer sample
Q05513	KPCZ_HUMAN	84	R	H	Polymorphism	-
Q05513	KPCZ_HUMAN	49	R	H	Polymorphism	-
Q05513	KPCZ_HUMAN	519	R	C	Unclassified	A colorectal adenocarcinoma sample
Q05516	ZBT16_HUMAN	617	M	V	Disease	Skeletal defects, genital hypoplasia, and mental retardation (SGYMR) [MIM:612447]
Q05586	NMDZ1_HUMAN	217	R	W	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (NDHMSR) [MIM:617820]
Q05586	NMDZ1_HUMAN	682	A	S	Polymorphism	-
Q05586	NMDZ1_HUMAN	552	D	E	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	349	A	S	Polymorphism	-
Q05586	NMDZ1_HUMAN	662	E	K	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	540	I	M	Polymorphism	-
Q05586	NMDZ1_HUMAN	557	P	R	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	844	R	C	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	419	T	A	Polymorphism	-
Q05586	NMDZ1_HUMAN	227	D	H	Unclassified	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (NDHMSR) [MIM:617820]
Q05586	NMDZ1_HUMAN	650	N	K	Unclassified	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	815	G	V	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	688	S	Y	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	641	M	I	Unclassified	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	620	G	R	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	645	A	S	Unclassified	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	827	G	R	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	618	G	R	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	815	G	R	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	647	Y	S	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05586	NMDZ1_HUMAN	306	R	Q	Unclassified	-
Q05586	NMDZ1_HUMAN	817	F	L	Disease	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
Q05639	EF1A2_HUMAN	70	G	S	Disease	Epileptic encephalopathy, early infantile, 33 (EIEE33) [MIM:616409]
Q05639	EF1A2_HUMAN	252	D	H	Disease	Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393]
Q05639	EF1A2_HUMAN	92	A	T	Unclassified	-
Q05639	EF1A2_HUMAN	122	E	K	Disease	Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393]
Q05655	KPCD_HUMAN	410	L	F	Polymorphism	-
Q05655	KPCD_HUMAN	483	R	W	Polymorphism	-
Q05655	KPCD_HUMAN	494	M	V	Polymorphism	-
Q05655	KPCD_HUMAN	375	F	S	Polymorphism	-
Q05655	KPCD_HUMAN	348	N	S	Polymorphism	-
Q05655	KPCD_HUMAN	593	V	M	Polymorphism	-
Q05682	CALD1_HUMAN	397	H	R	Polymorphism	-
Q05707	COEA1_HUMAN	855	P	L	Polymorphism	-
Q05707	COEA1_HUMAN	563	N	H	Polymorphism	-
Q05707	COEA1_HUMAN	922	V	I	Polymorphism	-
Q05707	COEA1_HUMAN	1342	V	L	Polymorphism	-
Q05707	COEA1_HUMAN	636	T	A	Polymorphism	-
Q05823	RN5A_HUMAN	289	A	T	Polymorphism	-
Q05823	RN5A_HUMAN	592	R	H	Polymorphism	-
Q05823	RN5A_HUMAN	406	S	F	Polymorphism	-
Q05823	RN5A_HUMAN	462	R	Q	Polymorphism	-
Q05823	RN5A_HUMAN	97	I	L	Polymorphism	-
Q05823	RN5A_HUMAN	541	D	E	Polymorphism	-
Q05823	RN5A_HUMAN	59	G	S	Polymorphism	-
Q05901	ACHB3_HUMAN	451	K	E	Polymorphism	-
Q05932	FOLC_HUMAN	22	I	V	Polymorphism	-
Q05932	FOLC_HUMAN	466	R	C	Polymorphism	-
Q05932	FOLC_HUMAN	528	S	T	Polymorphism	-
Q05932	FOLC_HUMAN	499	S	F	Polymorphism	-
Q05932	FOLC_HUMAN	13	F	L	Polymorphism	-
Q05932	FOLC_HUMAN	437	V	D	Polymorphism	-
Q05932	FOLC_HUMAN	489	A	V	Polymorphism	-
Q05940	VMAT2_HUMAN	387	P	L	Disease	Parkinsonism-dystonia, infantile, 2 (PKDYS2) [MIM:618049]
Q05952	STP2_HUMAN	131	R	W	Polymorphism	-
Q05996	ZP2_HUMAN	36	G	V	Polymorphism	-
Q05BV3	EMAL5_HUMAN	269	I	V	Polymorphism	-
Q05C16	LRC63_HUMAN	281	K	R	Polymorphism	-
Q05C16	LRC63_HUMAN	282	T	A	Polymorphism	-
Q05C16	LRC63_HUMAN	206	M	V	Polymorphism	-
Q05C16	LRC63_HUMAN	137	M	V	Polymorphism	-
Q05D32	CTSL2_HUMAN	244	A	V	Polymorphism	-
Q05D60	DEUP1_HUMAN	440	E	G	Polymorphism	-
Q05D60	DEUP1_HUMAN	440	E	Q	Polymorphism	-
Q05D60	DEUP1_HUMAN	175	S	F	Polymorphism	-
Q05D60	DEUP1_HUMAN	504	Q	K	Polymorphism	-
Q06033	ITIH3_HUMAN	315	Q	K	Polymorphism	-
Q06033	ITIH3_HUMAN	858	A	V	Polymorphism	-
Q06033	ITIH3_HUMAN	640	P	L	Polymorphism	-
Q06033	ITIH3_HUMAN	825	R	Q	Polymorphism	-
Q06033	ITIH3_HUMAN	340	T	M	Polymorphism	-
Q06033	ITIH3_HUMAN	751	T	A	Polymorphism	-
Q06055	AT5G2_HUMAN	141	M	K	Polymorphism	-
Q06055	AT5G2_HUMAN	58	S	I	Polymorphism	-
Q06124	PTN11_HUMAN	76	E	G	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q06124	PTN11_HUMAN	72	A	V	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q06124	PTN11_HUMAN	507	G	A	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q06124	PTN11_HUMAN	69	E	Q	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	506	S	T	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	505	R	K	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	71	F	K	Unclassified	Acute myeloid leukemia
Q06124	PTN11_HUMAN	508	M	V	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	279	Y	S	Disease	LEOPARD syndrome 1 (LPRD1) [MIM:151100]
Q06124	PTN11_HUMAN	58	N	K	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	472	T	M	Disease	LEOPARD syndrome 1 (LPRD1) [MIM:151100]
Q06124	PTN11_HUMAN	76	E	A	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q06124	PTN11_HUMAN	61	D	Y	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q06124	PTN11_HUMAN	76	E	V	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q06124	PTN11_HUMAN	61	D	V	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q06124	PTN11_HUMAN	265	R	Q	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	60	G	V	Polymorphism	-
Q06124	PTN11_HUMAN	60	G	A	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	72	A	T	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q06124	PTN11_HUMAN	465	A	T	Disease	LEOPARD syndrome 1 (LPRD1) [MIM:151100]
Q06124	PTN11_HUMAN	76	E	K	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q06124	PTN11_HUMAN	59	T	A	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	71	F	L	Polymorphism	-
Q06124	PTN11_HUMAN	2	T	I	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	510	Q	P	Disease	LEOPARD syndrome 1 (LPRD1) [MIM:151100]
Q06124	PTN11_HUMAN	279	Y	C	Disease	LEOPARD syndrome 1 (LPRD1) [MIM:151100]
Q06124	PTN11_HUMAN	76	E	D	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	69	E	K	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q06124	PTN11_HUMAN	61	D	G	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	61	D	N	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	468	G	A	Disease	LEOPARD syndrome 1 (LPRD1) [MIM:151100]
Q06124	PTN11_HUMAN	507	G	R	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q06124	PTN11_HUMAN	73	T	I	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	309	I	V	Unclassified	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	261	L	F	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	79	Q	P	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	502	R	L	Disease	LEOPARD syndrome 1 (LPRD1) [MIM:151100]
Q06124	PTN11_HUMAN	502	R	W	Disease	LEOPARD syndrome 1 (LPRD1) [MIM:151100]
Q06124	PTN11_HUMAN	415	T	M	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	72	A	G	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	507	G	R	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	79	Q	R	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	62	Y	D	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	261	L	H	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	256	Q	R	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	42	T	A	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	279	Y	C	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	308	N	D	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	510	Q	R	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	282	I	V	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	285	F	L	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	308	N	S	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	63	Y	C	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	514	Q	P	Disease	LEOPARD syndrome 1 (LPRD1) [MIM:151100]
Q06124	PTN11_HUMAN	285	F	S	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	262	L	F	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	564	L	F	Unclassified	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	495	P	S	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	72	A	S	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	514	Q	E	Disease	LEOPARD syndrome 1 (LPRD1) [MIM:151100]
Q06124	PTN11_HUMAN	514	Q	E	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	106	D	A	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	139	E	D	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06124	PTN11_HUMAN	262	L	R	Disease	Noonan syndrome 1 (NS1) [MIM:163950]
Q06136	KDSR_HUMAN	186	Y	F	Disease	Erythrokeratodermia variabilis et progressiva 4 (EKVP4) [MIM:617526]
Q06187	BTK_HUMAN	633	C	Y	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	526	N	K	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	476	Y	D	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	502	C	W	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	542	L	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	414	G	R	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	525	R	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	525	R	Q	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	319	V	A	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	462	G	D	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	544	R	K	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	644	F	S	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	430	K	E	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	408	L	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	598	Y	C	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	295	L	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	366	S	F	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	445	E	D	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	581	W	R	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	582	A	V	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	506	C	R	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	562	R	W	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	307	R	G	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	477	M	R	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	288	R	W	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	418	Y	H	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	302	G	E	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	430	K	R	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	372	R	G	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	587	M	L	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	567	E	K	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	562	R	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	509	M	V	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	506	C	Y	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	334	Y	S	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	370	I	M	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	630	M	K	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	641	R	C	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	607	A	D	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	619	P	S	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	369	L	F	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	594	G	E	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	589	E	G	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	429	I	N	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	502	C	F	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	518	L	R	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	589	E	K	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	28	R	C	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	358	L	F	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	641	R	H	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	508	A	D	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	33	T	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	613	G	D	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	594	G	R	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	521	D	N	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	520	R	Q	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	578	S	Y	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	28	R	H	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	521	D	H	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	652	L	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	155	C	R	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	154	C	S	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	559	F	S	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	362	H	Q	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	630	M	I	Polymorphism	-
Q06187	BTK_HUMAN	28	R	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	592	S	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	544	R	G	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	14	S	F	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	288	R	Q	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	155	C	G	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	127	Q	H	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	307	R	T	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	184	T	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	190	P	K	Unclassified	A lung large cell carcinoma sample
Q06187	BTK_HUMAN	626	V	G	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	40	Y	C	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	462	G	V	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	113	V	D	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	64	V	F	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	82	R	K	Polymorphism	-
Q06187	BTK_HUMAN	308	D	E	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	27	K	R	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	481	C	S	Unclassified	-
Q06187	BTK_HUMAN	622	A	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	583	F	S	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	563	W	L	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	512	L	Q	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	11	L	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	302	G	R	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	525	R	G	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	25	F	S	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	619	P	T	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	630	M	T	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	647	L	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	589	E	D	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	365	N	Y	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	12	K	R	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	115	S	F	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	61	I	N	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	361	Y	C	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	117	T	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	509	M	I	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	19	K	E	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	39	Y	S	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	644	F	L	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	619	P	A	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	40	Y	N	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	521	D	G	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	64	V	D	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	364	H	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	535	V	F	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	512	L	P	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06187	BTK_HUMAN	523	A	E	Disease	X-linked agammaglobulinemia (XLA) [MIM:300755]
Q06190	P2R3A_HUMAN	745	D	N	Polymorphism	-
Q06190	P2R3A_HUMAN	481	P	A	Polymorphism	-
Q06190	P2R3A_HUMAN	67	D	G	Polymorphism	-
Q06190	P2R3A_HUMAN	642	S	G	Polymorphism	-
Q06190	P2R3A_HUMAN	695	P	L	Polymorphism	-
Q06190	P2R3A_HUMAN	67	D	N	Polymorphism	-
Q06190	P2R3A_HUMAN	171	A	S	Polymorphism	-
Q06190	P2R3A_HUMAN	108	N	S	Polymorphism	-
Q06210	GFPT1_HUMAN	199	V	F	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	15	T	M	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	43	D	V	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	452	R	H	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	530	R	W	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	510	M	T	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	15	T	A	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	111	R	C	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	509	M	T	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	403	R	H	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	514	R	W	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	366	D	Y	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06210	GFPT1_HUMAN	121	I	T	Disease	Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
Q06250	WIT1_HUMAN	66	G	A	Polymorphism	-
Q06250	WIT1_HUMAN	13	A	T	Polymorphism	-
Q06265	EXOS9_HUMAN	425	S	T	Polymorphism	-
Q06265	EXOS9_HUMAN	14	L	P	Disease	Pontocerebellar hypoplasia 1D (PCH1D) [MIM:618065]
Q06265	EXOS9_HUMAN	366	I	V	Polymorphism	-
Q06278	AOXA_HUMAN	1271	S	L	Polymorphism	-
Q06278	AOXA_HUMAN	1135	N	S	Polymorphism	-
Q06278	AOXA_HUMAN	921	R	H	Polymorphism	-
Q06278	AOXA_HUMAN	1297	H	R	Polymorphism	-
Q06278	AOXA_HUMAN	802	R	C	Polymorphism	-
Q06278	AOXA_HUMAN	314	Q	R	Polymorphism	-
Q06323	PSME1_HUMAN	244	T	K	Polymorphism	-
Q06323	PSME1_HUMAN	55	S	N	Polymorphism	-
Q06330	SUH_HUMAN	63	E	G	Disease	Adams-Oliver syndrome 3 (AOS3) [MIM:614814]
Q06330	SUH_HUMAN	334	D	H	Polymorphism	-
Q06330	SUH_HUMAN	408	I	V	Polymorphism	-
Q06330	SUH_HUMAN	291	K	E	Polymorphism	-
Q06330	SUH_HUMAN	169	K	E	Disease	Adams-Oliver syndrome 3 (AOS3) [MIM:614814]
Q06330	SUH_HUMAN	425	P	S	Polymorphism	-
Q06330	SUH_HUMAN	456	A	V	Polymorphism	-
Q06330	SUH_HUMAN	419	R	Q	Polymorphism	-
Q06413	MEF2C_HUMAN	36	S	R	Disease	-
Q06413	MEF2C_HUMAN	39	C	R	Disease	-
Q06416	P5F1B_HUMAN	238	E	Q	Polymorphism	-
Q06416	P5F1B_HUMAN	313	P	L	Polymorphism	-
Q06416	P5F1B_HUMAN	33	L	R	Polymorphism	-
Q06416	P5F1B_HUMAN	69	L	F	Polymorphism	-
Q06416	P5F1B_HUMAN	176	G	E	Polymorphism	-
Q06416	P5F1B_HUMAN	182	K	T	Polymorphism	-
Q06416	P5F1B_HUMAN	214	N	D	Polymorphism	-
Q06418	TYRO3_HUMAN	542	G	S	Polymorphism	-
Q06418	TYRO3_HUMAN	824	R	G	Polymorphism	-
Q06418	TYRO3_HUMAN	346	I	N	Polymorphism	-
Q06418	TYRO3_HUMAN	831	A	T	Polymorphism	-
Q06418	TYRO3_HUMAN	21	P	L	Polymorphism	-
Q06418	TYRO3_HUMAN	819	L	M	Polymorphism	-
Q06418	TYRO3_HUMAN	815	A	V	Polymorphism	-
Q06432	CCG1_HUMAN	196	G	S	Polymorphism	-
Q06455	MTG8_HUMAN	386	R	W	Unclassified	A colorectal cancer sample
Q06455	MTG8_HUMAN	471	A	V	Unclassified	A colorectal cancer sample
Q06455	MTG8_HUMAN	395	R	W	Unclassified	A colorectal cancer sample
Q06481	APLP2_HUMAN	632	D	N	Polymorphism	-
Q06495	NPT2A_HUMAN	488	W	R	Disease	Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963]
Q06495	NPT2A_HUMAN	153	G	A	Disease	Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963]
Q06495	NPT2A_HUMAN	147	V	M	Disease	Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286]
Q06495	NPT2A_HUMAN	215	R	W	Disease	Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963]
Q06495	NPT2A_HUMAN	155	L	P	Disease	Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963]
Q06495	NPT2A_HUMAN	153	G	V	Disease	Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963]
Q06495	NPT2A_HUMAN	336	C	G	Disease	Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963]
Q06495	NPT2A_HUMAN	48	A	F	Disease	Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286]
Q06495	NPT2A_HUMAN	408	V	E	Disease	Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963]
Q06520	ST2A1_HUMAN	261	A	T	Polymorphism	-
Q06520	ST2A1_HUMAN	63	A	P	Polymorphism	-
Q06546	GABPA_HUMAN	291	A	V	Polymorphism	-
Q06546	GABPA_HUMAN	345	E	K	Polymorphism	-
Q06547	GABP1_HUMAN	31	P	A	Unclassified	A colorectal cancer sample
Q06587	RING1_HUMAN	95	R	Q	Polymorphism	-
Q06609	RAD51_HUMAN	131	T	P	Disease	Fanconi anemia, complementation group R (FANCR) [MIM:617244]
Q06609	RAD51_HUMAN	150	R	Q	Disease	Breast cancer (BC) [MIM:114480]
Q06609	RAD51_HUMAN	293	A	T	Disease	Fanconi anemia, complementation group R (FANCR) [MIM:617244]
Q06643	TNFC_HUMAN	84	S	R	Polymorphism	-
Q06643	TNFC_HUMAN	70	G	E	Polymorphism	-
Q06643	TNFC_HUMAN	122	A	D	Polymorphism	-
Q06643	TNFC_HUMAN	111	A	P	Polymorphism	-
Q06643	TNFC_HUMAN	87	L	F	Polymorphism	-
Q06710	PAX8_HUMAN	31	R	H	Disease	Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700]
Q06710	PAX8_HUMAN	40	Q	P	Disease	Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700]
Q06710	PAX8_HUMAN	57	C	Y	Disease	Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700]
Q06710	PAX8_HUMAN	329	F	L	Polymorphism	-
Q06710	PAX8_HUMAN	62	L	R	Disease	Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700]
Q06730	ZN33A_HUMAN	549	Q	E	Polymorphism	-
Q06730	ZN33A_HUMAN	614	G	R	Polymorphism	-
Q06730	ZN33A_HUMAN	804	D	H	Polymorphism	-
Q06732	ZN33B_HUMAN	356	H	R	Polymorphism	-
Q06732	ZN33B_HUMAN	145	R	C	Polymorphism	-
Q06787	FMR1_HUMAN	546	R	H	Polymorphism	-
Q06787	FMR1_HUMAN	145	A	S	Polymorphism	-
Q06787	FMR1_HUMAN	138	R	Q	Disease	Fragile X syndrome (FXS) [MIM:300624]
Q06787	FMR1_HUMAN	304	I	N	Disease	Fragile X syndrome (FXS) [MIM:300624]
Q06787	FMR1_HUMAN	266	G	E	Disease	Fragile X syndrome (FXS) [MIM:300624]
Q06830	PRDX1_HUMAN	62	R	G	Polymorphism	-
Q07000	1C15_HUMAN	76	V	M	Polymorphism	-
Q07000	1C15_HUMAN	45	H	R	Polymorphism	-
Q07000	1C15_HUMAN	137	H	Y	Polymorphism	-
Q07000	1C15_HUMAN	40	G	S	Polymorphism	-
Q07000	1C15_HUMAN	140	L	F	Polymorphism	-
Q07000	1C15_HUMAN	201	E	K	Polymorphism	-
Q07000	1C15_HUMAN	90	N	K	Polymorphism	-
Q07000	1C15_HUMAN	140	L	S	Polymorphism	-
Q07000	1C15_HUMAN	97	T	A	Polymorphism	-
Q07000	1C15_HUMAN	272	V	M	Polymorphism	-
Q07000	1C15_HUMAN	73	A	E	Polymorphism	-
Q07001	ACHD_HUMAN	114	V	L	Polymorphism	-
Q07001	ACHD_HUMAN	271	P	Q	Disease	Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322]
Q07001	ACHD_HUMAN	402	E	K	Disease	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C) [MIM:616323]
Q07001	ACHD_HUMAN	95	F	L	Disease	Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]
Q07001	ACHD_HUMAN	288	Q	E	Disease	Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) [MIM:616321]
Q07001	ACHD_HUMAN	79	I	K	Disease	Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322]
Q07001	ACHD_HUMAN	80	E	K	Disease	Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322]
Q07001	ACHD_HUMAN	42	L	P	Disease	Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322]
Q07001	ACHD_HUMAN	289	S	F	Disease	Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) [MIM:616321]
Q07001	ACHD_HUMAN	398	D	E	Unclassified	A breast cancer sample
Q07002	CDK18_HUMAN	166	T	M	Polymorphism	-
Q07002	CDK18_HUMAN	67	G	R	Polymorphism	-
Q07002	CDK18_HUMAN	48	G	S	Polymorphism	-
Q07011	TNR9_HUMAN	56	A	T	Polymorphism	-
Q07011	TNR9_HUMAN	250	E	G	Unclassified	A colorectal cancer sample
Q07011	TNR9_HUMAN	115	K	N	Polymorphism	-
Q07011	TNR9_HUMAN	176	A	D	Polymorphism	-
Q07020	RL18_HUMAN	51	L	S	Unclassified	Diamond-Blackfan anemia 18 (DBA18) [MIM:618310]
Q07021	C1QBP_HUMAN	275	L	P	Disease	Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713]
Q07021	C1QBP_HUMAN	247	G	W	Disease	Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713]
Q07021	C1QBP_HUMAN	186	C	S	Unclassified	Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713]
Q07021	C1QBP_HUMAN	204	F	L	Unclassified	Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713]
Q07021	C1QBP_HUMAN	275	L	F	Unclassified	Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713]
Q07065	CKAP4_HUMAN	348	A	T	Polymorphism	-
Q07075	AMPE_HUMAN	218	V	A	Polymorphism	-
Q07075	AMPE_HUMAN	861	S	R	Polymorphism	-
Q07075	AMPE_HUMAN	213	Q	R	Polymorphism	-
Q07075	AMPE_HUMAN	437	R	H	Polymorphism	-
Q07075	AMPE_HUMAN	887	R	T	Unclassified	A breast cancer sample
Q07092	COGA1_HUMAN	62	T	K	Polymorphism	-
Q07092	COGA1_HUMAN	418	R	Q	Polymorphism	-
Q07092	COGA1_HUMAN	745	G	S	Polymorphism	-
Q07157	ZO1_HUMAN	1605	N	S	Polymorphism	-
Q07157	ZO1_HUMAN	790	I	V	Polymorphism	-
Q07157	ZO1_HUMAN	1110	H	R	Polymorphism	-
Q07157	ZO1_HUMAN	930	P	L	Polymorphism	-
Q07157	ZO1_HUMAN	1347	D	A	Polymorphism	-
Q07157	ZO1_HUMAN	471	N	S	Polymorphism	-
Q07283	TRHY_HUMAN	1902	K	Q	Polymorphism	-
Q07283	TRHY_HUMAN	1258	L	V	Polymorphism	-
Q07283	TRHY_HUMAN	790	L	M	Polymorphism	-
Q07283	TRHY_HUMAN	1400	R	P	Unclassified	-
Q07283	TRHY_HUMAN	552	R	S	Polymorphism	-
Q07283	TRHY_HUMAN	237	V	L	Polymorphism	-
Q07283	TRHY_HUMAN	63	L	R	Polymorphism	-
Q07343	PDE4B_HUMAN	703	S	C	Polymorphism	-
Q07444	NKG2E_HUMAN	155	C	S	Polymorphism	-
Q07444	NKG2E_HUMAN	19	W	P	Polymorphism	-
Q07444	NKG2E_HUMAN	106	A	T	Polymorphism	-
Q07444	NKG2E_HUMAN	19	W	R	Polymorphism	-
Q07444	NKG2E_HUMAN	2	S	N	Polymorphism	-
Q07444	NKG2E_HUMAN	113	H	P	Polymorphism	-
Q07444	NKG2E_HUMAN	135	R	S	Polymorphism	-
Q07507	DERM_HUMAN	201	V	I	Polymorphism	-
Q07617	SPAG1_HUMAN	777	M	T	Polymorphism	-
Q07617	SPAG1_HUMAN	827	H	Y	Polymorphism	-
Q07617	SPAG1_HUMAN	331	E	K	Polymorphism	-
Q07699	SCN1B_HUMAN	153	D	N	Disease	Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]
Q07699	SCN1B_HUMAN	87	E	Q	Disease	-
Q07699	SCN1B_HUMAN	125	R	L	Disease	Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]
Q07699	SCN1B_HUMAN	211	C	Y	Polymorphism	-
Q07699	SCN1B_HUMAN	25	D	N	Disease	-
Q07699	SCN1B_HUMAN	125	R	C	Disease	Epileptic encephalopathy, early infantile, 52 (EIEE52) [MIM:617350]
Q07699	SCN1B_HUMAN	121	C	W	Disease	Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]
Q07699	SCN1B_HUMAN	85	R	H	Disease	Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]
Q07699	SCN1B_HUMAN	106	I	T	Unclassified	Epileptic encephalopathy, early infantile, 52 (EIEE52) [MIM:617350]
Q07699	SCN1B_HUMAN	208	K	I	Polymorphism	-
Q07699	SCN1B_HUMAN	213	G	D	Polymorphism	-
Q07699	SCN1B_HUMAN	138	V	I	Polymorphism	-
Q07812	BAX_HUMAN	11	G	E	Polymorphism	-
Q07812	BAX_HUMAN	39	G	R	Polymorphism	-
Q07812	BAX_HUMAN	67	G	R	Unclassified	A T-cell acute lymphoblastic leukemia cell line
Q07812	BAX_HUMAN	108	G	V	Unclassified	A Burkitt lymphoma
Q07820	MCL1_HUMAN	173	E	D	Polymorphism	-
Q07820	MCL1_HUMAN	231	M	L	Polymorphism	-
Q07820	MCL1_HUMAN	227	A	V	Polymorphism	-
Q07837	SLC31_HUMAN	346	L	P	Unclassified	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	568	G	S	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	140	G	R	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	149	L	Q	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	183	V	A	Unclassified	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	362	R	H	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	456	R	C	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	189	T	M	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	151	Y	C	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	666	C	W	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	398	G	R	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	461	Y	H	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	130	S	P	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	137	D	G	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	362	R	C	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	584	R	T	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	348	H	P	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	599	F	S	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	179	D	Y	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	452	R	Q	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	678	L	P	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	441	P	R	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	89	L	P	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	648	F	S	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	365	R	P	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	615	P	T	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	124	Y	C	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	181	R	Q	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	365	R	W	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	216	T	M	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	600	G	E	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	481	G	V	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	410	N	K	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	482	E	K	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	547	S	W	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	122	P	S	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	455	S	L	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	268	E	K	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	618	M	I	Polymorphism	-
Q07837	SLC31_HUMAN	445	I	T	Unclassified	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	341	T	A	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	456	R	H	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	507	S	L	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	673	C	R	Unclassified	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	508	P	A	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	452	R	W	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	253	N	K	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	510	Q	R	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	467	M	K	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	128	P	Q	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	123	M	R	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	467	M	T	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	652	T	R	Disease	Cystinuria (CSNU) [MIM:220100]
Q07837	SLC31_HUMAN	582	Y	H	Disease	Cystinuria (CSNU) [MIM:220100]
Q07864	DPOE1_HUMAN	2159	R	C	Polymorphism	-
Q07864	DPOE1_HUMAN	2040	A	V	Polymorphism	-
Q07864	DPOE1_HUMAN	2140	E	K	Polymorphism	-
Q07864	DPOE1_HUMAN	1712	A	V	Polymorphism	-
Q07864	DPOE1_HUMAN	286	P	H	Polymorphism	-
Q07864	DPOE1_HUMAN	1857	K	R	Polymorphism	-
Q07864	DPOE1_HUMAN	762	R	W	Polymorphism	-
Q07864	DPOE1_HUMAN	424	L	V	Disease	Colorectal cancer 12 (CRCS12) [MIM:615083]
Q07864	DPOE1_HUMAN	1935	C	Y	Polymorphism	-
Q07864	DPOE1_HUMAN	1399	E	Q	Polymorphism	-
Q07864	DPOE1_HUMAN	1382	R	C	Polymorphism	-
Q07864	DPOE1_HUMAN	1577	E	A	Polymorphism	-
Q07864	DPOE1_HUMAN	411	V	L	Disease	Colorectal cancer 12 (CRCS12) [MIM:615083]
Q07864	DPOE1_HUMAN	2013	D	N	Polymorphism	-
Q07864	DPOE1_HUMAN	695	F	I	Polymorphism	-
Q07864	DPOE1_HUMAN	1752	D	N	Polymorphism	-
Q07864	DPOE1_HUMAN	1368	V	M	Polymorphism	-
Q07864	DPOE1_HUMAN	1421	P	S	Polymorphism	-
Q07864	DPOE1_HUMAN	458	Y	F	Disease	Colorectal cancer 12 (CRCS12) [MIM:615083]
Q07864	DPOE1_HUMAN	31	A	S	Polymorphism	-
Q07864	DPOE1_HUMAN	367	F	S	Unclassified	-
Q07864	DPOE1_HUMAN	1395	Y	C	Polymorphism	-
Q07864	DPOE1_HUMAN	2056	A	T	Polymorphism	-
Q07864	DPOE1_HUMAN	260	R	Q	Polymorphism	-
Q07864	DPOE1_HUMAN	1008	K	N	Unclassified	-
Q07864	DPOE1_HUMAN	1255	L	V	Unclassified	-
Q07864	DPOE1_HUMAN	252	A	V	Polymorphism	-
Q07864	DPOE1_HUMAN	189	A	T	Unclassified	-
Q07864	DPOE1_HUMAN	1396	N	S	Polymorphism	-
Q07864	DPOE1_HUMAN	231	R	H	Polymorphism	-
Q07864	DPOE1_HUMAN	2213	A	V	Unclassified	-
Q07864	DPOE1_HUMAN	286	P	R	Polymorphism	-
Q07864	DPOE1_HUMAN	2165	R	H	Polymorphism	-
Q07864	DPOE1_HUMAN	459	S	F	Unclassified	-
Q07864	DPOE1_HUMAN	777	K	N	Unclassified	-
Q07864	DPOE1_HUMAN	336	N	S	Polymorphism	-
Q07864	DPOE1_HUMAN	436	P	R	Polymorphism	-
Q07864	DPOE1_HUMAN	99	P	L	Polymorphism	-
Q07864	DPOE1_HUMAN	1925	I	T	Unclassified	-
Q07869	PPARA_HUMAN	304	D	N	Polymorphism	-
Q07869	PPARA_HUMAN	127	R	Q	Polymorphism	-
Q07869	PPARA_HUMAN	395	G	R	Polymorphism	-
Q07869	PPARA_HUMAN	268	A	V	Polymorphism	-
Q07869	PPARA_HUMAN	162	L	V	Polymorphism	-
Q07869	PPARA_HUMAN	409	R	T	Polymorphism	-
Q07869	PPARA_HUMAN	227	V	A	Polymorphism	-
Q07889	SOS1_HUMAN	269	M	T	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	729	W	L	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	497	R	Q	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	1320	H	R	Polymorphism	-
Q07889	SOS1_HUMAN	655	P	L	Polymorphism	-
Q07889	SOS1_HUMAN	977	Q	R	Polymorphism	-
Q07889	SOS1_HUMAN	482	G	R	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	702	Y	H	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	894	P	R	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	784	I	T	Polymorphism	-
Q07889	SOS1_HUMAN	623	F	I	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	478	P	R	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	490	L	R	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	1011	N	S	Polymorphism	-
Q07889	SOS1_HUMAN	708	A	T	Polymorphism	-
Q07889	SOS1_HUMAN	1140	L	I	Polymorphism	-
Q07889	SOS1_HUMAN	108	E	K	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	549	T	K	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	112	P	R	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	1131	R	K	Polymorphism	-
Q07889	SOS1_HUMAN	569	L	V	Polymorphism	-
Q07889	SOS1_HUMAN	102	P	R	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	552	R	T	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	477	Q	R	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	269	M	R	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	552	R	M	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	434	G	R	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	1257	T	A	Polymorphism	-
Q07889	SOS1_HUMAN	846	E	K	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	309	D	Y	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	733	I	F	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	337	Y	C	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	433	E	K	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	252	I	T	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	478	P	L	Polymorphism	-
Q07889	SOS1_HUMAN	37	T	A	Polymorphism	-
Q07889	SOS1_HUMAN	266	T	K	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	422	M	V	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	424	E	K	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	548	S	R	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	434	G	K	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	550	L	P	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	441	C	Y	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	432	W	R	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	552	R	G	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	170	K	E	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	378	T	A	Polymorphism	-
Q07889	SOS1_HUMAN	552	R	S	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	552	R	K	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07889	SOS1_HUMAN	437	I	T	Disease	Noonan syndrome 4 (NS4) [MIM:610733]
Q07890	SOS2_HUMAN	334	R	H	Unclassified	Noonan syndrome 9 (NS9) [MIM:616559]
Q07890	SOS2_HUMAN	508	H	Y	Polymorphism	-
Q07890	SOS2_HUMAN	376	T	S	Disease	Noonan syndrome 9 (NS9) [MIM:616559]
Q07890	SOS2_HUMAN	1092	P	L	Unclassified	Noonan syndrome 9 (NS9) [MIM:616559]
Q07890	SOS2_HUMAN	952	D	N	Polymorphism	-
Q07890	SOS2_HUMAN	310	N	K	Unclassified	Noonan syndrome 9 (NS9) [MIM:616559]
Q07890	SOS2_HUMAN	483	S	N	Polymorphism	-
Q07890	SOS2_HUMAN	449	T	A	Polymorphism	-
Q07890	SOS2_HUMAN	267	M	K	Disease	Noonan syndrome 9 (NS9) [MIM:616559]
Q07890	SOS2_HUMAN	672	L	I	Polymorphism	-
Q07912	ACK1_HUMAN	748	R	Q	Polymorphism	-
Q07912	ACK1_HUMAN	71	K	R	Polymorphism	-
Q07912	ACK1_HUMAN	1038	R	H	Polymorphism	-
Q07912	ACK1_HUMAN	99	R	W	Polymorphism	-
Q07912	ACK1_HUMAN	99	R	Q	Unclassified	An ovarian mucinous carcinoma sample
Q07912	ACK1_HUMAN	409	M	I	Unclassified	A gastric adenocarcinoma sample
Q07912	ACK1_HUMAN	638	V	M	Unclassified	-
Q07912	ACK1_HUMAN	725	P	L	Polymorphism	-
Q07912	ACK1_HUMAN	802	P	L	Polymorphism	-
Q07912	ACK1_HUMAN	152	T	M	Polymorphism	-
Q07912	ACK1_HUMAN	507	P	S	Polymorphism	-
Q07912	ACK1_HUMAN	346	E	K	Unclassified	An ovarian endometrioid cancer sample
Q07912	ACK1_HUMAN	34	R	L	Unclassified	A lung adenocarcinoma sample
Q07954	LRP1_HUMAN	217	A	V	Polymorphism	-
Q07954	LRP1_HUMAN	4536	E	G	Polymorphism	-
Q07954	LRP1_HUMAN	2059	V	L	Polymorphism	-
Q07954	LRP1_HUMAN	3760	R	H	Unclassified	A colorectal cancer sample
Q07954	LRP1_HUMAN	3258	H	Q	Unclassified	-
Q07954	LRP1_HUMAN	166	N	D	Polymorphism	-
Q07954	LRP1_HUMAN	2080	D	N	Polymorphism	-
Q07954	LRP1_HUMAN	2900	Q	P	Polymorphism	-
Q07954	LRP1_HUMAN	1245	K	R	Disease	Keratosis pilaris atrophicans (KPA) [MIM:604093]
Q07954	LRP1_HUMAN	869	E	K	Unclassified	A colorectal cancer sample
Q07955	SRSF1_HUMAN	89	P	S	Unclassified	A breast cancer sample
Q07960	RHG01_HUMAN	369	R	C	Polymorphism	-
Q07973	CP24A_HUMAN	374	M	T	Polymorphism	-
Q07973	CP24A_HUMAN	322	E	K	Disease	Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880]
Q07973	CP24A_HUMAN	157	R	Q	Polymorphism	-
Q07973	CP24A_HUMAN	396	R	W	Disease	Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880]
Q07973	CP24A_HUMAN	159	R	Q	Disease	Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880]
Q07973	CP24A_HUMAN	409	L	S	Disease	Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880]
Q08043	ACTN3_HUMAN	523	R	Q	Polymorphism	-
Q08043	ACTN3_HUMAN	776	Q	R	Polymorphism	-
Q08043	ACTN3_HUMAN	628	C	R	Polymorphism	-
Q08043	ACTN3_HUMAN	635	E	A	Polymorphism	-
Q08050	FOXM1_HUMAN	450	F	L	Polymorphism	-
Q08050	FOXM1_HUMAN	402	A	E	Polymorphism	-
Q08050	FOXM1_HUMAN	669	P	R	Polymorphism	-
Q08050	FOXM1_HUMAN	673	P	L	Polymorphism	-
Q08050	FOXM1_HUMAN	643	S	P	Polymorphism	-
Q08117	TLE5_HUMAN	168	A	E	Polymorphism	-
Q08170	SRSF4_HUMAN	253	E	D	Polymorphism	-
Q08170	SRSF4_HUMAN	438	Q	E	Polymorphism	-
Q08170	SRSF4_HUMAN	338	G	A	Polymorphism	-
Q08170	SRSF4_HUMAN	356	G	S	Polymorphism	-
Q08174	PCDH1_HUMAN	514	A	T	Polymorphism	-
Q08174	PCDH1_HUMAN	15	L	F	Polymorphism	-
Q08174	PCDH1_HUMAN	25	H	P	Polymorphism	-
Q08188	TGM3_HUMAN	249	S	N	Polymorphism	-
Q08188	TGM3_HUMAN	13	T	K	Polymorphism	-
Q08188	TGM3_HUMAN	163	I	L	Polymorphism	-
Q08188	TGM3_HUMAN	654	G	R	Polymorphism	-
Q08188	TGM3_HUMAN	687	L	M	Polymorphism	-
Q08188	TGM3_HUMAN	562	K	R	Polymorphism	-
Q08209	PP2BA_HUMAN	150	N	I	Disease	Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711]
Q08209	PP2BA_HUMAN	92	H	R	Disease	Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711]
Q08209	PP2BA_HUMAN	281	H	Q	Disease	Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711]
Q08209	PP2BA_HUMAN	473	A	T	Disease	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID) [MIM:618265]
Q08209	PP2BA_HUMAN	447	A	T	Unclassified	Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711]
Q08209	PP2BA_HUMAN	470	F	L	Disease	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID) [MIM:618265]
Q08209	PP2BA_HUMAN	234	D	E	Disease	Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711]
Q08209	PP2BA_HUMAN	282	E	K	Disease	Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711]
Q08211	DHX9_HUMAN	894	I	V	Polymorphism	-
Q08257	QOR_HUMAN	176	I	V	Polymorphism	-
Q08257	QOR_HUMAN	66	P	S	Polymorphism	-
Q08257	QOR_HUMAN	183	E	K	Polymorphism	-
Q08289	CACB2_HUMAN	535	S	L	Unclassified	Brugada syndrome 4 (BRGDA4) [MIM:611876]
Q08289	CACB2_HUMAN	99	A	G	Unclassified	A colorectal cancer sample
Q08334	I10R2_HUMAN	47	K	E	Polymorphism	-
Q08345	DDR1_HUMAN	833	L	V	Polymorphism	-
Q08345	DDR1_HUMAN	169	R	Q	Polymorphism	-
Q08345	DDR1_HUMAN	17	S	G	Polymorphism	-
Q08345	DDR1_HUMAN	306	R	W	Polymorphism	-
Q08345	DDR1_HUMAN	496	S	A	Unclassified	A lung squamous cell carcinoma sample
Q08345	DDR1_HUMAN	100	V	A	Polymorphism	-
Q08345	DDR1_HUMAN	170	A	D	Polymorphism	-
Q08357	S20A2_HUMAN	595	T	M	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	571	G	S	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	502	H	Q	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	382	R	Q	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	71	R	H	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	434	S	W	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	62	L	P	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	601	S	L	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	498	G	R	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	637	S	R	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	11	I	L	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	51	A	V	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	115	T	M	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	601	S	W	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	194	N	S	Unclassified	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	568	P	L	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	184	P	L	Unclassified	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	28	D	N	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08357	S20A2_HUMAN	575	E	K	Disease	Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]
Q08378	GOGA3_HUMAN	1185	K	R	Polymorphism	-
Q08378	GOGA3_HUMAN	70	G	E	Polymorphism	-
Q08378	GOGA3_HUMAN	264	P	L	Polymorphism	-
Q08379	GOGA2_HUMAN	902	R	G	Polymorphism	-
Q08397	LOXL1_HUMAN	141	R	L	Polymorphism	-
Q08397	LOXL1_HUMAN	153	G	D	Polymorphism	-
Q08426	ECHP_HUMAN	325	A	G	Polymorphism	-
Q08426	ECHP_HUMAN	41	I	R	Polymorphism	-
Q08426	ECHP_HUMAN	606	T	P	Polymorphism	-
Q08426	ECHP_HUMAN	274	A	T	Polymorphism	-
Q08426	ECHP_HUMAN	40	V	G	Polymorphism	-
Q08426	ECHP_HUMAN	75	T	I	Polymorphism	-
Q08426	ECHP_HUMAN	3	E	K	Disease	Fanconi renotubular syndrome 3 (FRTS3) [MIM:615605]
Q08426	ECHP_HUMAN	685	Q	K	Polymorphism	-
Q08426	ECHP_HUMAN	715	L	S	Polymorphism	-
Q08426	ECHP_HUMAN	598	K	T	Polymorphism	-
Q08431	MFGM_HUMAN	3	R	S	Polymorphism	-
Q08431	MFGM_HUMAN	76	L	M	Polymorphism	-
Q08462	ADCY2_HUMAN	147	V	L	Polymorphism	-
Q08462	ADCY2_HUMAN	163	V	I	Polymorphism	-
Q08477	CP4F3_HUMAN	106	Y	C	Polymorphism	-
Q08477	CP4F3_HUMAN	271	I	T	Polymorphism	-
Q08477	CP4F3_HUMAN	269	A	D	Polymorphism	-
Q08477	CP4F3_HUMAN	270	V	I	Polymorphism	-
Q08477	CP4F3_HUMAN	96	H	Q	Polymorphism	-
Q08493	PDE4C_HUMAN	131	S	L	Polymorphism	-
Q08493	PDE4C_HUMAN	289	R	Q	Polymorphism	-
Q08493	PDE4C_HUMAN	344	R	Q	Polymorphism	-
Q08493	PDE4C_HUMAN	344	R	W	Polymorphism	-
Q08499	PDE4D_HUMAN	225	P	T	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08499	PDE4D_HUMAN	227	A	S	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08499	PDE4D_HUMAN	228	Q	E	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08499	PDE4D_HUMAN	673	G	D	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08499	PDE4D_HUMAN	678	I	T	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08499	PDE4D_HUMAN	301	S	T	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08499	PDE4D_HUMAN	304	A	V	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08499	PDE4D_HUMAN	590	E	A	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08499	PDE4D_HUMAN	226	F	S	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08499	PDE4D_HUMAN	329	V	A	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08499	PDE4D_HUMAN	190	S	A	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08499	PDE4D_HUMAN	587	T	P	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
Q08554	DSC1_HUMAN	93	S	F	Polymorphism	-
Q08554	DSC1_HUMAN	848	C	F	Polymorphism	-
Q08554	DSC1_HUMAN	460	V	I	Polymorphism	-
Q08623	HDHD1_HUMAN	165	P	A	Polymorphism	-
Q08623	HDHD1_HUMAN	88	T	M	Polymorphism	-
Q08648	SG11B_HUMAN	77	R	Q	Polymorphism	-
Q08648	SG11B_HUMAN	89	D	G	Polymorphism	-
Q08708	CLM6_HUMAN	71	T	I	Polymorphism	-
Q08752	PPID_HUMAN	335	G	E	Polymorphism	-
Q08752	PPID_HUMAN	196	D	V	Polymorphism	-
Q08752	PPID_HUMAN	49	R	C	Polymorphism	-
Q08752	PPID_HUMAN	302	L	I	Polymorphism	-
Q08828	ADCY1_HUMAN	456	P	L	Polymorphism	-
Q08828	ADCY1_HUMAN	984	V	M	Polymorphism	-
Q08828	ADCY1_HUMAN	940	A	T	Polymorphism	-
Q08830	FGL1_HUMAN	72	I	V	Polymorphism	-
Q08830	FGL1_HUMAN	256	W	L	Polymorphism	-
Q08830	FGL1_HUMAN	15	T	I	Polymorphism	-
Q08830	FGL1_HUMAN	114	M	V	Polymorphism	-
Q08830	FGL1_HUMAN	140	Y	F	Polymorphism	-
Q08830	FGL1_HUMAN	121	T	S	Polymorphism	-
Q08830	FGL1_HUMAN	111	Y	H	Polymorphism	-
Q08830	FGL1_HUMAN	105	P	L	Polymorphism	-
Q08881	ITK_HUMAN	19	R	K	Unclassified	A metastatic melanoma sample
Q08881	ITK_HUMAN	23	P	L	Unclassified	A metastatic melanoma sample
Q08881	ITK_HUMAN	193	R	Q	Polymorphism	-
Q08881	ITK_HUMAN	581	R	W	Polymorphism	-
Q08881	ITK_HUMAN	587	V	I	Polymorphism	-
Q08881	ITK_HUMAN	335	R	W	Disease	Lymphoproliferative syndrome 1 (LPFS1) [MIM:613011]
Q08881	ITK_HUMAN	451	R	Q	Unclassified	A gastric adenocarcinoma sample
Q08945	SSRP1_HUMAN	458	E	Q	Polymorphism	-
Q08945	SSRP1_HUMAN	225	L	V	Polymorphism	-
Q08999	RBL2_HUMAN	99	V	F	Polymorphism	-
Q08999	RBL2_HUMAN	210	Y	C	Polymorphism	-
Q08AD1	CAMP2_HUMAN	969	P	L	Polymorphism	-
Q08AD1	CAMP2_HUMAN	958	P	L	Polymorphism	-
Q08AD1	CAMP2_HUMAN	1028	R	P	Polymorphism	-
Q08AD1	CAMP2_HUMAN	361	I	L	Unclassified	A colorectal cancer sample
Q08AD1	CAMP2_HUMAN	1039	P	R	Polymorphism	-
Q08AE8	SPIR1_HUMAN	249	Q	P	Polymorphism	-
Q08AF3	SLFN5_HUMAN	787	P	L	Polymorphism	-
Q08AF3	SLFN5_HUMAN	754	V	L	Polymorphism	-
Q08AF3	SLFN5_HUMAN	797	A	V	Polymorphism	-
Q08AG5	ZN844_HUMAN	226	K	E	Polymorphism	-
Q08AG5	ZN844_HUMAN	276	T	A	Polymorphism	-
Q08AG5	ZN844_HUMAN	146	R	H	Polymorphism	-
Q08AG5	ZN844_HUMAN	584	M	L	Polymorphism	-
Q08AG5	ZN844_HUMAN	642	I	M	Polymorphism	-
Q08AG5	ZN844_HUMAN	308	A	P	Polymorphism	-
Q08AG5	ZN844_HUMAN	113	V	M	Polymorphism	-
Q08AG5	ZN844_HUMAN	658	V	I	Polymorphism	-
Q08AG5	ZN844_HUMAN	329	V	A	Polymorphism	-
Q08AG7	MZT1_HUMAN	5	S	G	Polymorphism	-
Q08AH1	ACSM1_HUMAN	272	I	M	Polymorphism	-
Q08AH1	ACSM1_HUMAN	479	I	V	Polymorphism	-
Q08AH1	ACSM1_HUMAN	515	I	T	Polymorphism	-
Q08AH3	ACS2A_HUMAN	337	V	G	Polymorphism	-
Q08AH3	ACS2A_HUMAN	335	V	L	Polymorphism	-
Q08AH3	ACS2A_HUMAN	513	S	L	Polymorphism	-
Q08AH3	ACS2A_HUMAN	561	A	T	Polymorphism	-
Q08AI6	S38AB_HUMAN	194	A	T	Polymorphism	-
Q08AI8	MB214_HUMAN	309	L	P	Polymorphism	-
Q08AI8	MB214_HUMAN	170	A	T	Polymorphism	-
Q08AM6	VAC14_HUMAN	582	A	S	Disease	Striatonigral degeneration, childhood-onset (SNDC) [MIM:617054]
Q08AM6	VAC14_HUMAN	424	W	L	Disease	Striatonigral degeneration, childhood-onset (SNDC) [MIM:617054]
Q08AM6	VAC14_HUMAN	583	S	L	Disease	Striatonigral degeneration, childhood-onset (SNDC) [MIM:617054]
Q08AN1	ZN616_HUMAN	50	P	S	Polymorphism	-
Q08AN1	ZN616_HUMAN	451	H	R	Polymorphism	-
Q08ER8	ZN543_HUMAN	246	L	H	Polymorphism	-
Q08ER8	ZN543_HUMAN	107	Q	R	Polymorphism	-
Q08ER8	ZN543_HUMAN	439	V	D	Polymorphism	-
Q08ER8	ZN543_HUMAN	287	E	V	Polymorphism	-
Q08ER8	ZN543_HUMAN	573	M	V	Polymorphism	-
Q08ER8	ZN543_HUMAN	55	P	A	Polymorphism	-
Q08J23	NSUN2_HUMAN	679	G	R	Disease	Mental retardation, autosomal recessive 5 (MRT5) [MIM:611091]
Q08J23	NSUN2_HUMAN	627	V	I	Polymorphism	-
Q09013	DMPK_HUMAN	428	L	V	Unclassified	A lung small cell carcinoma sample
Q09013	DMPK_HUMAN	423	L	V	Polymorphism	-
Q09160	1A80_HUMAN	121	I	M	Polymorphism	-
Q09160	1A80_HUMAN	205	R	H	Polymorphism	-
Q09160	1A80_HUMAN	129	S	P	Polymorphism	-
Q09160	1A80_HUMAN	166	I	T	Polymorphism	-
Q09160	1A80_HUMAN	151	N	K	Polymorphism	-
Q09160	1A80_HUMAN	131	G	W	Polymorphism	-
Q09160	1A80_HUMAN	169	R	H	Polymorphism	-
Q09160	1A80_HUMAN	133	F	L	Polymorphism	-
Q09428	ABCC8_HUMAN	1130	T	P	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	591	F	L	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1493	R	W	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	810	D	N	Polymorphism	-
Q09428	ABCC8_HUMAN	841	R	G	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1352	R	P	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1138	T	M	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1369	A	S	Polymorphism	-
Q09428	ABCC8_HUMAN	551	P	R	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	889	K	T	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1379	R	C	Disease	Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
Q09428	ABCC8_HUMAN	1214	R	Q	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	582	L	V	Disease	Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
Q09428	ABCC8_HUMAN	1360	V	G	Polymorphism	-
Q09428	ABCC8_HUMAN	263	Y	D	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	275	R	Q	Polymorphism	-
Q09428	ABCC8_HUMAN	1378	G	R	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	188	N	S	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	125	H	Q	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	673	D	N	Polymorphism	-
Q09428	ABCC8_HUMAN	1381	G	S	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1572	V	I	Polymorphism	-
Q09428	ABCC8_HUMAN	956	S	F	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	187	V	D	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1457	A	V	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	716	G	V	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	834	R	C	Polymorphism	-
Q09428	ABCC8_HUMAN	560	V	M	Polymorphism	-
Q09428	ABCC8_HUMAN	1388	S	Y	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1436	R	Q	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1378	G	S	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1393	R	H	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1352	R	H	Disease	Leucine-induced hypoglycemia (LIH) [MIM:240800]
Q09428	ABCC8_HUMAN	1360	V	M	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1182	R	Q	Disease	Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
Q09428	ABCC8_HUMAN	1424	I	V	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	229	T	I	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	716	G	D	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	890	L	P	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1522	V	L	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	1184	A	E	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	824	E	K	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1505	D	E	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	132	F	V	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	1478	G	R	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	74	R	Q	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	620	R	C	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	508	L	P	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1511	I	S	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	686	F	S	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	310	D	N	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	211	Q	K	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	418	C	R	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	207	P	S	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	503	L	P	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	7	G	R	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	511	L	M	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	104	L	V	Polymorphism	-
Q09428	ABCC8_HUMAN	1326	E	K	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	213	L	R	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	1506	E	K	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	719	K	T	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1389	L	P	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	116	A	P	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	495	R	Q	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1457	A	T	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	233	M	R	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1400	G	R	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1384	K	Q	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	435	C	R	Disease	Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
Q09428	ABCC8_HUMAN	406	N	D	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1342	G	E	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1023	H	Y	Disease	Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
Q09428	ABCC8_HUMAN	1147	L	R	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1543	L	P	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	72	N	S	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	501	E	K	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1420	R	C	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1550	V	D	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	86	V	A	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	1400	G	R	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	1471	D	N	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	382	E	K	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	225	L	P	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	208	E	K	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	209	D	E	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	1471	D	H	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	86	V	G	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	111	G	R	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	74	R	W	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1480	N	I	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1486	R	K	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	132	F	L	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	1551	L	V	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1418	R	H	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1349	L	Q	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1386	S	F	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	70	G	E	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1450	L	P	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1493	R	Q	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1214	R	W	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1336	K	N	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	45	P	L	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428	ABCC8_HUMAN	27	F	S	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	1295	N	K	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428	ABCC8_HUMAN	21	V	D	Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09470	KCNA1_HUMAN	404	V	I	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	239	R	S	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	244	P	H	Disease	Myokymia isolated 1 (MK1) [MIM:160120]
Q09470	KCNA1_HUMAN	226	T	R	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	177	I	R	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	226	T	A	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	226	T	M	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	174	V	F	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	255	N	D	Disease	Myokymia isolated 1 (MK1) [MIM:160120]
Q09470	KCNA1_HUMAN	249	F	I	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	226	T	K	Disease	Myokymia isolated 1 (MK1) [MIM:160120]
Q09470	KCNA1_HUMAN	184	F	C	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	242	A	P	Disease	Myokymia isolated 1 (MK1) [MIM:160120]
Q09470	KCNA1_HUMAN	342	S	I	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	408	V	A	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	204	R	H	Polymorphism	-
Q09470	KCNA1_HUMAN	325	E	D	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	329	L	I	Disease	Episodic ataxia 1 (EA1) [MIM:160120]
Q09470	KCNA1_HUMAN	405	P	L	Disease	-
Q09470	KCNA1_HUMAN	400	I	V	Unclassified	-
Q09472	EP300_HUMAN	289	M	V	Polymorphism	-
Q09472	EP300_HUMAN	2174	T	S	Polymorphism	-
Q09472	EP300_HUMAN	827	L	P	Unclassified	A breast cancer sample
Q09472	EP300_HUMAN	2223	Q	P	Polymorphism	-
Q09472	EP300_HUMAN	1013	E	G	Unclassified	A breast cancer sample
Q09472	EP300_HUMAN	997	I	V	Polymorphism	-
Q09472	EP300_HUMAN	1824	Q	P	Disease	Menke-Hennekam syndrome 2 (MKHK2) [MIM:618333]
Q09472	EP300_HUMAN	2221	P	Q	Unclassified	A colorectal cancer sample
Q09472	EP300_HUMAN	1650	S	Y	Unclassified	A pancreatic cancer sample
Q09472	EP300_HUMAN	1511	N	I	Polymorphism	-
Q09472	EP300_HUMAN	2007	Q	R	Unclassified	-
Q09666	AHNK_HUMAN	4611	M	V	Polymorphism	-
Q09666	AHNK_HUMAN	962	G	V	Polymorphism	-
Q09666	AHNK_HUMAN	3724	S	P	Polymorphism	-
Q09666	AHNK_HUMAN	3190	V	I	Polymorphism	-
Q09666	AHNK_HUMAN	3003	Q	K	Polymorphism	-
Q09666	AHNK_HUMAN	4561	G	D	Polymorphism	-
Q09666	AHNK_HUMAN	4613	I	V	Polymorphism	-
Q09666	AHNK_HUMAN	2114	A	T	Polymorphism	-
Q09666	AHNK_HUMAN	2439	P	L	Polymorphism	-
Q09666	AHNK_HUMAN	4304	D	G	Polymorphism	-
Q09666	AHNK_HUMAN	4631	D	G	Polymorphism	-
Q09666	AHNK_HUMAN	5415	T	A	Polymorphism	-
Q09666	AHNK_HUMAN	2247	K	T	Polymorphism	-
Q09FC8	ZN415_HUMAN	229	I	L	Polymorphism	-
Q09FC8	ZN415_HUMAN	463	N	D	Polymorphism	-
Q09FC8	ZN415_HUMAN	233	I	V	Polymorphism	-
Q09FC8	ZN415_HUMAN	196	H	P	Polymorphism	-
Q09FC8	ZN415_HUMAN	241	Y	C	Polymorphism	-
Q09MP3	R51A2_HUMAN	876	V	L	Polymorphism	-
Q09MP3	R51A2_HUMAN	1037	G	D	Polymorphism	-
Q09MP3	R51A2_HUMAN	976	R	H	Polymorphism	-
Q0D2J5	ZN763_HUMAN	327	Y	H	Polymorphism	-
Q0D2J5	ZN763_HUMAN	324	Y	H	Polymorphism	-
Q0D2K0	NIPA4_HUMAN	237	H	N	Disease	Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
Q0D2K0	NIPA4_HUMAN	176	A	D	Disease	Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
Q0D2K0	NIPA4_HUMAN	142	G	V	Disease	Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
Q0D2K0	NIPA4_HUMAN	297	G	R	Disease	Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
Q0D2K0	NIPA4_HUMAN	208	S	F	Disease	Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
Q0D2K0	NIPA4_HUMAN	135	S	R	Disease	Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
Q0D2K0	NIPA4_HUMAN	230	G	R	Disease	Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
Q0D2K5	EGFEM_HUMAN	157	P	L	Polymorphism	-
Q0D2K5	EGFEM_HUMAN	59	G	D	Polymorphism	-
Q0IIN9	ZNFS1_HUMAN	84	L	I	Polymorphism	-
Q0JRZ9	FCHO2_HUMAN	371	M	V	Polymorphism	-
Q0P5N6	ARL16_HUMAN	10	S	R	Polymorphism	-
Q0P641	CB080_HUMAN	152	S	G	Polymorphism	-
Q0P641	CB080_HUMAN	82	R	H	Polymorphism	-
Q0P641	CB080_HUMAN	130	C	R	Polymorphism	-
Q0P670	SPEM2_HUMAN	108	S	A	Polymorphism	-
Q0P670	SPEM2_HUMAN	376	Q	R	Polymorphism	-
Q0P6D6	CCD15_HUMAN	813	C	R	Polymorphism	-
Q0P6D6	CCD15_HUMAN	529	G	D	Polymorphism	-
Q0P6D6	CCD15_HUMAN	166	F	C	Polymorphism	-
Q0VAF6	SYCN_HUMAN	111	L	M	Polymorphism	-
Q0VAK6	LMOD3_HUMAN	438	K	M	Polymorphism	-
Q0VAK6	LMOD3_HUMAN	263	I	T	Polymorphism	-
Q0VAK6	LMOD3_HUMAN	83	R	H	Polymorphism	-
Q0VAK6	LMOD3_HUMAN	560	A	V	Polymorphism	-
Q0VAK6	LMOD3_HUMAN	326	G	R	Disease	Nemaline myopathy 10 (NEM10) [MIM:616165]
Q0VD83	APOBR_HUMAN	428	P	A	Polymorphism	-
Q0VDD7	CS057_HUMAN	267	G	R	Polymorphism	-
Q0VDD7	CS057_HUMAN	500	Q	R	Polymorphism	-
Q0VDD8	DYH14_HUMAN	220	T	S	Polymorphism	-
Q0VDD8	DYH14_HUMAN	2671	K	E	Polymorphism	-
Q0VDD8	DYH14_HUMAN	274	P	L	Polymorphism	-
Q0VDF9	HSP7E_HUMAN	85	A	V	Unclassified	A breast cancer sample
Q0VDG4	SCRN3_HUMAN	179	V	A	Polymorphism	-
Q0VDG4	SCRN3_HUMAN	18	D	N	Polymorphism	-
Q0VDG4	SCRN3_HUMAN	108	L	S	Polymorphism	-
Q0VF96	CGNL1_HUMAN	511	T	A	Polymorphism	-
Q0VF96	CGNL1_HUMAN	380	T	P	Polymorphism	-
Q0VF96	CGNL1_HUMAN	1101	L	V	Polymorphism	-
Q0VF96	CGNL1_HUMAN	459	S	F	Polymorphism	-
Q0VF96	CGNL1_HUMAN	1270	M	V	Polymorphism	-
Q0VG06	FP100_HUMAN	660	P	L	Polymorphism	-
Q0VG06	FP100_HUMAN	817	T	A	Polymorphism	-
Q0VG73	YC023_HUMAN	19	S	R	Polymorphism	-
Q0VG73	YC023_HUMAN	63	I	M	Polymorphism	-
Q0VG99	MESP2_HUMAN	66	A	G	Polymorphism	-
Q0VG99	MESP2_HUMAN	125	L	V	Polymorphism	-
Q0VG99	MESP2_HUMAN	138	V	M	Polymorphism	-
Q0VG99	MESP2_HUMAN	224	S	F	Polymorphism	-
Q0VGE8	ZN816_HUMAN	80	I	N	Polymorphism	-
Q0VGE8	ZN816_HUMAN	162	S	L	Polymorphism	-
Q0ZGT2	NEXN_HUMAN	611	P	T	Disease	Cardiomyopathy, dilated 1CC (CMD1CC) [MIM:613122]
Q0ZGT2	NEXN_HUMAN	245	G	R	Polymorphism	-
Q0ZGT2	NEXN_HUMAN	279	R	C	Disease	Cardiomyopathy, familial hypertrophic 20 (CMH20) [MIM:613876]
Q0ZGT2	NEXN_HUMAN	335	R	K	Polymorphism	-
Q0ZGT2	NEXN_HUMAN	131	Q	E	Disease	Cardiomyopathy, familial hypertrophic 20 (CMH20) [MIM:613876]
Q0ZGT2	NEXN_HUMAN	652	Y	C	Disease	Cardiomyopathy, dilated 1CC (CMD1CC) [MIM:613122]
Q0ZLH3	PJVK_HUMAN	54	T	I	Disease	Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]
Q0ZLH3	PJVK_HUMAN	183	R	W	Disease	Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]
Q0ZLH3	PJVK_HUMAN	343	C	S	Disease	Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]
Q0ZLH3	PJVK_HUMAN	265	R	C	Polymorphism	-
Q10469	MGAT2_HUMAN	318	N	D	Disease	Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066]
Q10469	MGAT2_HUMAN	290	S	F	Disease	Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066]
Q10469	MGAT2_HUMAN	262	H	R	Disease	Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066]
Q10471	GALT2_HUMAN	245	R	H	Polymorphism	-
Q10471	GALT2_HUMAN	554	V	M	Polymorphism	-
Q10472	GALT1_HUMAN	414	Y	D	Polymorphism	-
Q10567	AP1B1_HUMAN	777	T	A	Polymorphism	-
Q10571	MN1_HUMAN	382	Q	H	Polymorphism	-
Q10588	BST1_HUMAN	101	I	V	Polymorphism	-
Q10588	BST1_HUMAN	125	R	H	Polymorphism	-
Q10588	BST1_HUMAN	145	R	Q	Polymorphism	-
Q10588	BST1_HUMAN	77	A	V	Polymorphism	-
Q10589	BST2_HUMAN	143	V	F	Polymorphism	-
Q10713	MPPA_HUMAN	96	S	L	Disease	Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200]
Q10713	MPPA_HUMAN	515	G	R	Disease	Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200]
Q10713	MPPA_HUMAN	256	V	M	Disease	Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200]
Q10713	MPPA_HUMAN	377	A	T	Disease	Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200]
Q10981	FUT2_HUMAN	138	R	C	Polymorphism	-
Q10981	FUT2_HUMAN	172	D	N	Polymorphism	-
Q10981	FUT2_HUMAN	25	I	V	Polymorphism	-
Q10981	FUT2_HUMAN	140	I	F	Polymorphism	-
Q10981	FUT2_HUMAN	258	G	S	Polymorphism	-
Q11128	FUT5_HUMAN	187	P	L	Polymorphism	-
Q11128	FUT5_HUMAN	338	T	M	Polymorphism	-
Q11130	FUT7_HUMAN	110	R	Q	Polymorphism	-
Q11201	SIA4A_HUMAN	111	N	S	Polymorphism	-
Q11203	SIAT6_HUMAN	13	A	D	Disease	Mental retardation, autosomal recessive 12 (MRT12) [MIM:611090]
Q11203	SIAT6_HUMAN	370	D	Y	Disease	Mental retardation, autosomal recessive 12 (MRT12) [MIM:611090]
Q11203	SIAT6_HUMAN	320	A	P	Disease	Epileptic encephalopathy, early infantile, 15 (EIEE15) [MIM:615006]
Q12756	KIF1A_HUMAN	255	A	V	Unclassified	Spastic paraplegia 30, autosomal recessive (SPG30) [MIM:610357]
Q12756	KIF1A_HUMAN	336	I	V	Polymorphism	-
Q12756	KIF1A_HUMAN	350	R	G	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	202	A	P	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	249	L	Q	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	255	A	V	Unclassified	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	216	R	C	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	215	S	R	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	58	S	L	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	102	G	S	Disease	-
Q12756	KIF1A_HUMAN	99	T	M	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	46	T	M	Polymorphism	-
Q12756	KIF1A_HUMAN	187	T	I	Polymorphism	-
Q12756	KIF1A_HUMAN	355	R	H	Polymorphism	-
Q12756	KIF1A_HUMAN	1026	I	T	Unclassified	-
Q12756	KIF1A_HUMAN	253	E	K	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	216	R	H	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	69	S	L	Disease	-
Q12756	KIF1A_HUMAN	233	E	D	Polymorphism	-
Q12756	KIF1A_HUMAN	144	V	F	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	316	R	W	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	205	V	M	Polymorphism	-
Q12756	KIF1A_HUMAN	220	V	I	Polymorphism	-
Q12756	KIF1A_HUMAN	102	G	D	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	167	R	C	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12756	KIF1A_HUMAN	136	D	N	Polymorphism	-
Q12756	KIF1A_HUMAN	216	R	P	Disease	Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
Q12765	SCRN1_HUMAN	338	Q	R	Polymorphism	-
Q12765	SCRN1_HUMAN	189	S	N	Polymorphism	-
Q12767	TMM94_HUMAN	1040	I	T	Polymorphism	-
Q12768	WASC5_HUMAN	696	G	A	Disease	Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
Q12768	WASC5_HUMAN	626	V	F	Disease	Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
Q12768	WASC5_HUMAN	620	V	A	Disease	Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
Q12768	WASC5_HUMAN	226	I	T	Disease	Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
Q12768	WASC5_HUMAN	471	N	D	Disease	Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
Q12768	WASC5_HUMAN	619	L	F	Disease	Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
Q12769	NU160_HUMAN	40	A	T	Polymorphism	-
Q12769	NU160_HUMAN	803	E	K	Unclassified	Nephrotic syndrome 19 (NPHS19) [MIM:618178]
Q12769	NU160_HUMAN	351	T	A	Polymorphism	-
Q12770	SCAP_HUMAN	798	V	I	Polymorphism	-
Q12772	SRBP2_HUMAN	273	A	S	Unclassified	A breast cancer sample
Q12772	SRBP2_HUMAN	595	G	A	Polymorphism	-
Q12772	SRBP2_HUMAN	347	N	K	Unclassified	A breast cancer sample
Q12772	SRBP2_HUMAN	536	M	L	Polymorphism	-
Q12772	SRBP2_HUMAN	623	V	M	Polymorphism	-
Q12772	SRBP2_HUMAN	860	R	S	Polymorphism	-
Q12788	TBL3_HUMAN	294	E	Q	Polymorphism	-
Q12788	TBL3_HUMAN	293	Q	R	Polymorphism	-
Q12788	TBL3_HUMAN	457	S	P	Polymorphism	-
Q12789	TF3C1_HUMAN	1889	Q	E	Polymorphism	-
Q12789	TF3C1_HUMAN	1959	F	S	Polymorphism	-
Q12789	TF3C1_HUMAN	2077	E	K	Polymorphism	-
Q12791	KCMA1_HUMAN	884	E	K	Disease	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446]
Q12791	KCMA1_HUMAN	1053	N	S	Disease	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446]
Q12791	KCMA1_HUMAN	434	D	G	Disease	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446]
Q12794	HYAL1_HUMAN	268	E	K	Disease	Mucopolysaccharidosis 9 (MPS9) [MIM:601492]
Q12796	PNRC1_HUMAN	252	P	L	Polymorphism	-
Q12797	ASPH_HUMAN	735	R	W	Disease	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) [MIM:601552]
Q12797	ASPH_HUMAN	354	R	M	Polymorphism	-
Q12799	TCP10_HUMAN	45	G	E	Polymorphism	-
Q12802	AKP13_HUMAN	452	M	T	Polymorphism	-
Q12802	AKP13_HUMAN	1525	S	G	Polymorphism	-
Q12802	AKP13_HUMAN	1086	D	N	Polymorphism	-
Q12802	AKP13_HUMAN	1062	P	A	Polymorphism	-
Q12802	AKP13_HUMAN	574	R	C	Polymorphism	-
Q12802	AKP13_HUMAN	494	W	R	Polymorphism	-
Q12802	AKP13_HUMAN	2457	G	S	Polymorphism	-
Q12802	AKP13_HUMAN	689	E	K	Polymorphism	-
Q12802	AKP13_HUMAN	845	V	A	Polymorphism	-
Q12802	AKP13_HUMAN	897	V	M	Polymorphism	-
Q12802	AKP13_HUMAN	2801	A	T	Polymorphism	-
Q12802	AKP13_HUMAN	526	K	Q	Polymorphism	-
Q12802	AKP13_HUMAN	1216	M	T	Polymorphism	-
Q12802	AKP13_HUMAN	624	G	V	Polymorphism	-
Q12805	FBLN3_HUMAN	345	R	W	Disease	Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]
Q12805	FBLN3_HUMAN	220	I	F	Polymorphism	-
Q12809	KCNH2_HUMAN	66	C	G	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	696	R	C	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	635	N	K	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	106	F	Y	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	108	C	R	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	125	F	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	629	N	I	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1016	P	L	Polymorphism	-
Q12809	KCNH2_HUMAN	114	P	S	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	218	M	V	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	78	A	P	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	528	R	P	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	616	Y	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	638	K	N	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	637	E	D	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	635	N	D	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	609	D	H	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1016	P	S	Polymorphism	-
Q12809	KCNH2_HUMAN	1066	L	V	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1078	Y	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	56	R	Q	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	728	I	F	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	242	R	G	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	26	S	I	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	141	P	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1026	P	L	Polymorphism	-
Q12809	KCNH2_HUMAN	784	R	W	Polymorphism	-
Q12809	KCNH2_HUMAN	752	R	Q	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	948	R	C	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	86	L	R	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	53	G	R	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	552	L	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	176	R	W	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1055	R	Q	Polymorphism	-
Q12809	KCNH2_HUMAN	571	I	V	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	568	W	R	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	562	H	P	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	626	G	D	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	149	G	A	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	637	E	K	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	621	S	R	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	634	T	I	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1049	L	P	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	94	V	G	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	102	D	A	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	70	H	R	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	490	A	T	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	924	G	E	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	749	G	V	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	565	A	T	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	757	K	N	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	609	D	G	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	558	A	P	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	752	R	W	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1115	M	V	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	420	Y	C	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	33	N	T	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	320	S	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1038	V	M	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	767	D	Y	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	164	R	H	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	596	P	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	597	Y	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	897	K	T	Polymorphism	-
Q12809	KCNH2_HUMAN	711	I	V	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	645	M	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	474	T	I	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	657	G	R	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	100	R	W	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	687	H	Y	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	421	T	M	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1007	R	H	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	924	G	A	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	968	P	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	822	V	M	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	937	S	N	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	584	G	R	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	594	G	D	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	427	Y	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	596	P	H	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	422	A	T	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	805	F	C	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	74	T	P	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	534	R	C	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	628	G	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	29	F	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	593	I	R	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	436	T	M	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	470	N	D	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	525	K	N	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	805	F	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	861	N	I	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	696	R	P	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	100	R	Q	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1093	P	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	328	R	C	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	660	S	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	656	F	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	561	A	V	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	922	R	Q	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1033	R	W	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	413	L	P	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1005	R	Q	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	566	C	S	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	626	G	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	638	K	E	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	693	L	P	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	678	L	P	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	456	D	Y	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	662	I	T	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1020	P	S	Polymorphism	-
Q12809	KCNH2_HUMAN	306	G	W	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	55	S	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	86	L	P	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	640	F	V	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	569	Y	H	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	582	R	C	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	615	L	V	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	593	I	T	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	632	P	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	920	R	W	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	644	V	F	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	645	M	I	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	238	G	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	74	T	R	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	72	P	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	623	T	I	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	427	Y	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	820	G	R	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	626	G	A	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	582	R	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	501	D	N	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	65	T	P	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	917	P	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	531	R	Q	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	71	G	R	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	920	R	Q	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	644	V	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	613	T	M	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	74	T	M	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	431	F	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	49	C	Y	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	806	G	E	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	605	P	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	593	I	K	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	347	P	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	648	G	S	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	906	S	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	629	N	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	426	P	H	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	640	F	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	791	R	W	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	925	G	R	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	476	V	I	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	903	G	R	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	744	R	P	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	444	E	D	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	588	N	K	Disease	Short QT syndrome 1 (SQT1) [MIM:609620]
Q12809	KCNH2_HUMAN	601	G	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	585	W	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	53	G	D	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	564	L	P	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	410	W	S	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	629	N	K	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	47	G	V	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	996	N	I	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	85	A	V	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	45	N	Y	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	314	G	S	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	721	P	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	572	G	C	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	572	G	R	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	627	F	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	559	L	H	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	451	P	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	800	G	W	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	32	A	T	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	774	D	Y	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	894	R	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	599	S	R	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	460	D	Y	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	54	Y	H	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	630	V	A	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	837	D	Y	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	572	G	D	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	30	I	T	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	501	D	H	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	770	V	A	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	561	A	T	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	68	F	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	402	H	R	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	788	E	D	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	493	Y	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	312	R	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	70	H	N	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	633	N	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	628	G	V	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	818	S	P	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	823	R	W	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	16	D	A	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	558	A	E	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	788	E	K	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	837	D	G	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	428	S	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	427	Y	H	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	493	Y	S	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	440	P	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	64	C	W	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	43	Y	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	572	G	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1036	G	D	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	584	G	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	562	H	R	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	181	R	Q	Polymorphism	-
Q12809	KCNH2_HUMAN	609	D	N	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	818	S	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	534	R	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	473	T	N	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	635	N	I	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	466	D	Y	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	475	Y	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	57	A	P	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	612	V	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	596	P	R	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	588	N	D	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	571	I	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	913	A	V	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	922	R	W	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	72	P	Q	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	605	P	S	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	323	D	N	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	629	N	D	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	622	L	F	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	846	P	S	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	58	E	D	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	277	A	D	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	31	I	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	611	Y	H	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	615	L	F	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	100	R	G	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	291	M	T	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	572	G	V	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	531	R	W	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	64	C	Y	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	601	G	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	301	R	L	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	614	A	V	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	641	S	F	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	251	P	S	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	983	T	I	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	887	R	H	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	20	R	G	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	885	R	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	58	E	G	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	894	R	C	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	861	N	H	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	630	V	L	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	259	D	N	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	604	G	S	Disease	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	41	V	F	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	58	E	A	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12809	KCNH2_HUMAN	1153	H	Y	Unclassified	Long QT syndrome 2 (LQT2) [MIM:613688]
Q12816	TROP_HUMAN	951	G	S	Polymorphism	-
Q12816	TROP_HUMAN	738	S	G	Polymorphism	-
Q12816	TROP_HUMAN	65	R	W	Polymorphism	-
Q12824	SNF5_HUMAN	374	R	Q	Disease	Coffin-Siris syndrome 3 (CSS3) [MIM:614608]
Q12824	SNF5_HUMAN	366	R	C	Disease	Coffin-Siris syndrome 3 (CSS3) [MIM:614608]
Q12824	SNF5_HUMAN	37	R	H	Unclassified	Coffin-Siris syndrome 3 (CSS3) [MIM:614608]
Q12824	SNF5_HUMAN	377	R	H	Disease	Coffin-Siris syndrome 3 (CSS3) [MIM:614608]
Q12830	BPTF_HUMAN	1924	A	T	Disease	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) [MIM:617755]
Q12830	BPTF_HUMAN	2996	M	R	Disease	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) [MIM:617755]
Q12834	CDC20_HUMAN	402	V	M	Polymorphism	-
Q12834	CDC20_HUMAN	479	R	Q	Polymorphism	-
Q12836	ZP4_HUMAN	114	A	V	Polymorphism	-
Q12836	ZP4_HUMAN	295	P	S	Polymorphism	-
Q12837	PO4F2_HUMAN	40	I	T	Polymorphism	-
Q12840	KIF5A_HUMAN	280	R	L	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	198	M	T	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	280	R	C	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	257	K	N	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	251	E	K	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	280	R	H	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	361	A	V	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	474	Q	H	Unclassified	Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921]
Q12840	KIF5A_HUMAN	253	K	N	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	256	N	S	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	276	Y	C	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	204	R	Q	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	986	P	L	Unclassified	Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921]
Q12840	KIF5A_HUMAN	1007	R	G	Disease	Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921]
Q12840	KIF5A_HUMAN	63	Y	C	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	413	E	G	Unclassified	Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921]
Q12840	KIF5A_HUMAN	203	S	C	Disease	Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
Q12840	KIF5A_HUMAN	577	S	G	Unclassified	Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921]
Q12849	GRSF1_HUMAN	277	D	Y	Polymorphism	-
Q12852	M3K12_HUMAN	640	G	S	Polymorphism	-
Q12852	M3K12_HUMAN	409	E	K	Unclassified	A breast pleomorphic lobular carcinoma sample
Q12852	M3K12_HUMAN	628	G	R	Polymorphism	-
Q12860	CNTN1_HUMAN	824	E	G	Polymorphism	-
Q12860	CNTN1_HUMAN	794	P	H	Unclassified	A colorectal cancer sample
Q12860	CNTN1_HUMAN	798	V	L	Polymorphism	-
Q12864	CAD17_HUMAN	739	E	A	Polymorphism	-
Q12864	CAD17_HUMAN	446	I	T	Polymorphism	-
Q12864	CAD17_HUMAN	734	E	D	Polymorphism	-
Q12864	CAD17_HUMAN	115	K	E	Polymorphism	-
Q12866	MERTK_HUMAN	289	E	K	Polymorphism	-
Q12866	MERTK_HUMAN	118	S	N	Polymorphism	-
Q12866	MERTK_HUMAN	662	Q	E	Polymorphism	-
Q12866	MERTK_HUMAN	282	A	T	Polymorphism	-
Q12866	MERTK_HUMAN	871	I	T	Disease	Retinitis pigmentosa 38 (RP38) [MIM:613862]
Q12866	MERTK_HUMAN	20	R	S	Polymorphism	-
Q12866	MERTK_HUMAN	870	V	I	Polymorphism	-
Q12866	MERTK_HUMAN	452	V	L	Polymorphism	-
Q12866	MERTK_HUMAN	214	F	V	Polymorphism	-
Q12866	MERTK_HUMAN	185	V	M	Polymorphism	-
Q12866	MERTK_HUMAN	871	I	V	Polymorphism	-
Q12866	MERTK_HUMAN	865	R	W	Polymorphism	-
Q12866	MERTK_HUMAN	958	P	L	Polymorphism	-
Q12866	MERTK_HUMAN	498	N	S	Polymorphism	-
Q12866	MERTK_HUMAN	518	I	V	Polymorphism	-
Q12866	MERTK_HUMAN	540	E	K	Disease	Retinitis pigmentosa 38 (RP38) [MIM:613862]
Q12866	MERTK_HUMAN	293	R	H	Polymorphism	-
Q12866	MERTK_HUMAN	466	R	K	Polymorphism	-
Q12866	MERTK_HUMAN	661	S	C	Disease	Retinitis pigmentosa 38 (RP38) [MIM:613862]
Q12866	MERTK_HUMAN	823	E	Q	Polymorphism	-
Q12866	MERTK_HUMAN	708	A	S	Unclassified	A head & Neck squamous cell carcinoma sample
Q12866	MERTK_HUMAN	329	N	S	Polymorphism	-
Q12866	MERTK_HUMAN	446	A	G	Unclassified	A renal clear cell carcinoma sample
Q12872	SFSWA_HUMAN	136	L	F	Polymorphism	-
Q12872	SFSWA_HUMAN	122	L	F	Polymorphism	-
Q12872	SFSWA_HUMAN	421	L	P	Polymorphism	-
Q12872	SFSWA_HUMAN	887	A	E	Polymorphism	-
Q12872	SFSWA_HUMAN	512	G	S	Polymorphism	-
Q12872	SFSWA_HUMAN	52	L	Q	Polymorphism	-
Q12872	SFSWA_HUMAN	538	E	G	Polymorphism	-
Q12873	CHD3_HUMAN	1881	R	L	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1169	R	W	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1172	R	Q	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1158	W	R	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	985	R	Q	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	886	H	R	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1342	R	Q	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1161	H	R	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1136	T	I	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	915	L	F	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1121	R	P	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1171	H	R	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1120	D	H	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1187	R	P	Unclassified	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1159	N	K	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	3	A	V	Polymorphism	-
Q12873	CHD3_HUMAN	985	R	W	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	961	G	E	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	921	E	K	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12873	CHD3_HUMAN	1236	L	P	Disease	Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
Q12879	NMDE1_HUMAN	552	P	R	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	922	A	V	Polymorphism	-
Q12879	NMDE1_HUMAN	576	F	S	Polymorphism	-
Q12879	NMDE1_HUMAN	336	P	S	Polymorphism	-
Q12879	NMDE1_HUMAN	1229	T	S	Unclassified	-
Q12879	NMDE1_HUMAN	968	A	T	Disease	-
Q12879	NMDE1_HUMAN	685	V	G	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	884	D	N	Unclassified	-
Q12879	NMDE1_HUMAN	189	T	N	Unclassified	-
Q12879	NMDE1_HUMAN	1425	S	L	Polymorphism	-
Q12879	NMDE1_HUMAN	506	V	A	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	1064	T	A	Polymorphism	-
Q12879	NMDE1_HUMAN	1285	R	K	Polymorphism	-
Q12879	NMDE1_HUMAN	937	D	N	Polymorphism	-
Q12879	NMDE1_HUMAN	143	T	I	Unclassified	-
Q12879	NMDE1_HUMAN	705	M	V	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	349	S	F	Unclassified	-
Q12879	NMDE1_HUMAN	904	I	F	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	1276	A	G	Unclassified	-
Q12879	NMDE1_HUMAN	1251	D	N	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	814	I	T	Unclassified	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	852	V	M	Polymorphism	-
Q12879	NMDE1_HUMAN	762	G	A	Unclassified	-
Q12879	NMDE1_HUMAN	727	A	T	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	1153	D	N	Polymorphism	-
Q12879	NMDE1_HUMAN	1318	R	W	Polymorphism	-
Q12879	NMDE1_HUMAN	1421	D	N	Unclassified	-
Q12879	NMDE1_HUMAN	370	R	W	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	731	D	N	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	889	G	E	Unclassified	-
Q12879	NMDE1_HUMAN	716	A	D	Unclassified	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	1132	P	L	Unclassified	-
Q12879	NMDE1_HUMAN	1175	E	K	Polymorphism	-
Q12879	NMDE1_HUMAN	449	G	E	Polymorphism	-
Q12879	NMDE1_HUMAN	734	V	L	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	295	G	S	Unclassified	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	976	N	S	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	1462	S	C	Unclassified	-
Q12879	NMDE1_HUMAN	1426	E	K	Polymorphism	-
Q12879	NMDE1_HUMAN	933	D	N	Unclassified	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	716	A	T	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	817	M	V	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	1366	P	L	Unclassified	-
Q12879	NMDE1_HUMAN	452	V	M	Polymorphism	-
Q12879	NMDE1_HUMAN	290	A	V	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	79	P	R	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	989	N	S	Unclassified	-
Q12879	NMDE1_HUMAN	998	V	M	Unclassified	-
Q12879	NMDE1_HUMAN	1073	E	K	Unclassified	-
Q12879	NMDE1_HUMAN	1074	P	L	Polymorphism	-
Q12879	NMDE1_HUMAN	929	S	F	Polymorphism	-
Q12879	NMDE1_HUMAN	615	N	K	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	459	F	S	Unclassified	-
Q12879	NMDE1_HUMAN	920	R	K	Unclassified	-
Q12879	NMDE1_HUMAN	183	F	I	Polymorphism	-
Q12879	NMDE1_HUMAN	712	G	E	Polymorphism	-
Q12879	NMDE1_HUMAN	184	I	S	Unclassified	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	243	A	V	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	652	F	V	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	694	I	T	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	436	C	R	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	278	S	F	Polymorphism	-
Q12879	NMDE1_HUMAN	595	H	R	Polymorphism	-
Q12879	NMDE1_HUMAN	531	T	M	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	380	N	D	Unclassified	-
Q12879	NMDE1_HUMAN	740	G	W	Unclassified	-
Q12879	NMDE1_HUMAN	231	C	Y	Unclassified	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	598	S	F	Unclassified	-
Q12879	NMDE1_HUMAN	699	P	S	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	669	K	N	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	962	E	K	Polymorphism	-
Q12879	NMDE1_HUMAN	252	D	N	Polymorphism	-
Q12879	NMDE1_HUMAN	483	G	R	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	57	P	L	Unclassified	-
Q12879	NMDE1_HUMAN	518	R	H	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	812	L	M	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	373	E	K	Unclassified	-
Q12879	NMDE1_HUMAN	548	A	T	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	371	E	K	Polymorphism	-
Q12879	NMDE1_HUMAN	772	K	E	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	714	E	K	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	504	R	W	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12879	NMDE1_HUMAN	653	M	I	Unclassified	-
Q12879	NMDE1_HUMAN	270	K	E	Polymorphism	-
Q12879	NMDE1_HUMAN	1133	P	S	Unclassified	-
Q12879	NMDE1_HUMAN	649	L	V	Disease	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
Q12882	DPYD_HUMAN	995	V	F	Polymorphism	-
Q12882	DPYD_HUMAN	732	V	I	Polymorphism	-
Q12882	DPYD_HUMAN	235	R	W	Disease	Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270]
Q12882	DPYD_HUMAN	29	C	R	Disease	Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270]
Q12882	DPYD_HUMAN	534	S	N	Polymorphism	-
Q12882	DPYD_HUMAN	543	I	V	Polymorphism	-
Q12882	DPYD_HUMAN	166	M	V	Polymorphism	-
Q12882	DPYD_HUMAN	886	R	H	Disease	Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270]
Q12884	SEPR_HUMAN	363	S	L	Polymorphism	-
Q12887	COX10_HUMAN	204	N	K	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q12887	COX10_HUMAN	288	G	R	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q12887	COX10_HUMAN	336	D	V	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q12887	COX10_HUMAN	196	T	K	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q12887	COX10_HUMAN	336	D	G	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q12887	COX10_HUMAN	159	R	Q	Polymorphism	-
Q12887	COX10_HUMAN	225	P	L	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q12887	COX10_HUMAN	62	T	S	Polymorphism	-
Q12887	COX10_HUMAN	97	Y	C	Polymorphism	-
Q12887	COX10_HUMAN	420	P	L	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q12887	COX10_HUMAN	28	T	I	Polymorphism	-
Q12887	COX10_HUMAN	258	L	H	Polymorphism	-
Q12887	COX10_HUMAN	340	G	D	Polymorphism	-
Q12888	TP53B_HUMAN	841	D	G	Polymorphism	-
Q12888	TP53B_HUMAN	1442	R	Q	Polymorphism	-
Q12888	TP53B_HUMAN	1488	G	W	Polymorphism	-
Q12888	TP53B_HUMAN	1137	E	K	Polymorphism	-
Q12888	TP53B_HUMAN	1026	V	A	Polymorphism	-
Q12888	TP53B_HUMAN	412	G	S	Polymorphism	-
Q12888	TP53B_HUMAN	1170	A	G	Polymorphism	-
Q12888	TP53B_HUMAN	648	M	V	Polymorphism	-
Q12888	TP53B_HUMAN	1174	I	V	Polymorphism	-
Q12888	TP53B_HUMAN	1014	E	G	Polymorphism	-
Q12888	TP53B_HUMAN	1136	K	Q	Polymorphism	-
Q12888	TP53B_HUMAN	699	Q	R	Polymorphism	-
Q12888	TP53B_HUMAN	353	D	E	Polymorphism	-
Q12889	OVGP1_HUMAN	514	Y	H	Polymorphism	-
Q12889	OVGP1_HUMAN	479	M	V	Polymorphism	-
Q12889	OVGP1_HUMAN	676	E	Q	Polymorphism	-
Q12889	OVGP1_HUMAN	332	D	E	Polymorphism	-
Q12889	OVGP1_HUMAN	526	P	S	Polymorphism	-
Q12889	OVGP1_HUMAN	662	L	H	Unclassified	A colorectal cancer sample
Q12889	OVGP1_HUMAN	477	M	T	Polymorphism	-
Q12889	OVGP1_HUMAN	536	S	G	Polymorphism	-
Q12889	OVGP1_HUMAN	604	H	Q	Polymorphism	-
Q12891	HYAL2_HUMAN	418	I	L	Polymorphism	-
Q12891	HYAL2_HUMAN	18	S	A	Polymorphism	-
Q12894	IFRD2_HUMAN	502	R	Q	Polymorphism	-
Q12899	TRI26_HUMAN	197	Q	H	Polymorphism	-
Q12901	ZN155_HUMAN	251	R	H	Polymorphism	-
Q12901	ZN155_HUMAN	474	H	R	Unclassified	A colorectal cancer sample
Q12901	ZN155_HUMAN	157	I	F	Polymorphism	-
Q12901	ZN155_HUMAN	379	K	R	Polymorphism	-
Q12901	ZN155_HUMAN	231	P	L	Polymorphism	-
Q12904	AIMP1_HUMAN	117	T	A	Polymorphism	-
Q12904	AIMP1_HUMAN	79	P	A	Polymorphism	-
Q12904	AIMP1_HUMAN	104	T	A	Polymorphism	-
Q12906	ILF3_HUMAN	501	A	S	Polymorphism	-
Q12906	ILF3_HUMAN	50	D	H	Polymorphism	-
Q12908	NTCP2_HUMAN	98	V	I	Polymorphism	-
Q12908	NTCP2_HUMAN	290	P	S	Polymorphism	-
Q12908	NTCP2_HUMAN	159	V	I	Polymorphism	-
Q12908	NTCP2_HUMAN	243	L	P	Disease	Primary bile acid malabsorption (PBAM) [MIM:613291]
Q12908	NTCP2_HUMAN	262	T	M	Disease	Primary bile acid malabsorption (PBAM) [MIM:613291]
Q12908	NTCP2_HUMAN	171	S	A	Polymorphism	-
Q12912	LRMP_HUMAN	241	L	W	Polymorphism	-
Q12912	LRMP_HUMAN	253	C	S	Polymorphism	-
Q12912	LRMP_HUMAN	197	L	V	Polymorphism	-
Q12912	LRMP_HUMAN	94	T	A	Polymorphism	-
Q12913	PTPRJ_HUMAN	293	A	T	Polymorphism	-
Q12913	PTPRJ_HUMAN	214	R	C	Unclassified	A colon cancer sample
Q12913	PTPRJ_HUMAN	326	R	Q	Polymorphism	-
Q12913	PTPRJ_HUMAN	276	Q	P	Unclassified	A colon cancer sample
Q12913	PTPRJ_HUMAN	1235	I	T	Polymorphism	-
Q12913	PTPRJ_HUMAN	372	V	I	Polymorphism	-
Q12913	PTPRJ_HUMAN	872	E	D	Polymorphism	-
Q12918	KLRB1_HUMAN	168	I	T	Polymorphism	-
Q12923	PTN13_HUMAN	1744	S	P	Polymorphism	-
Q12923	PTN13_HUMAN	1356	F	L	Polymorphism	-
Q12923	PTN13_HUMAN	2081	Y	D	Polymorphism	-
Q12923	PTN13_HUMAN	1419	L	P	Polymorphism	-
Q12923	PTN13_HUMAN	1625	E	K	Polymorphism	-
Q12923	PTN13_HUMAN	1522	I	M	Polymorphism	-
Q12923	PTN13_HUMAN	2458	I	V	Polymorphism	-
Q12929	EPS8_HUMAN	806	A	S	Polymorphism	-
Q12929	EPS8_HUMAN	761	D	E	Polymorphism	-
Q12931	TRAP1_HUMAN	572	E	K	Polymorphism	-
Q12931	TRAP1_HUMAN	395	D	E	Polymorphism	-
Q12931	TRAP1_HUMAN	692	R	H	Polymorphism	-
Q12931	TRAP1_HUMAN	307	R	G	Polymorphism	-
Q12934	BFSP1_HUMAN	345	G	S	Polymorphism	-
Q12934	BFSP1_HUMAN	656	D	E	Polymorphism	-
Q12934	BFSP1_HUMAN	348	D	N	Disease	Cataract 33, multiple types (CTRCT33) [MIM:611391]
Q12946	FOXF1_HUMAN	139	R	L	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	91	G	E	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	101	S	L	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	330	R	W	Unclassified	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	106	F	L	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	97	R	H	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	119	G	D	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	126	P	L	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	91	G	V	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	53	Y	C	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	98	H	Q	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	96	V	M	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	85	F	L	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	49	P	S	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	85	F	I	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	86	R	W	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	52	S	F	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	77	F	L	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	85	F	S	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	74	I	N	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12946	FOXF1_HUMAN	49	P	Q	Disease	Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
Q12948	FOXC1_HUMAN	91	I	T	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	85	A	P	Unclassified	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	112	F	S	Disease	Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
Q12948	FOXC1_HUMAN	126	I	M	Disease	Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
Q12948	FOXC1_HUMAN	161	M	K	Disease	Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
Q12948	FOXC1_HUMAN	130	L	F	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	112	F	S	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	82	S	T	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	297	P	S	Disease	Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
Q12948	FOXC1_HUMAN	109	M	V	Disease	Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
Q12948	FOXC1_HUMAN	79	P	T	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	131	S	W	Disease	Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
Q12948	FOXC1_HUMAN	135	C	Y	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	161	M	V	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	127	R	L	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	170	R	W	Unclassified	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	79	P	R	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	152	W	G	Disease	Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
Q12948	FOXC1_HUMAN	149	G	D	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	87	I	M	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	128	H	R	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	165	G	R	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	115	Y	S	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	368	T	N	Unclassified	-
Q12948	FOXC1_HUMAN	127	R	H	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	126	I	S	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	131	S	L	Disease	Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
Q12948	FOXC1_HUMAN	138	K	E	Disease	Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
Q12948	FOXC1_HUMAN	131	S	L	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	161	M	K	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	169	R	P	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	126	I	M	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	79	P	L	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	91	I	S	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12948	FOXC1_HUMAN	86	L	F	Disease	Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]
Q12950	FOXD4_HUMAN	134	I	F	Polymorphism	-
Q12950	FOXD4_HUMAN	136	D	G	Polymorphism	-
Q12950	FOXD4_HUMAN	152	I	V	Polymorphism	-
Q12951	FOXI1_HUMAN	243	P	S	Polymorphism	-
Q12951	FOXI1_HUMAN	362	N	S	Polymorphism	-
Q12955	ANK3_HUMAN	3720	T	M	Unclassified	-
Q12955	ANK3_HUMAN	3117	I	V	Polymorphism	-
Q12955	ANK3_HUMAN	2885	H	Q	Polymorphism	-
Q12955	ANK3_HUMAN	3123	K	R	Polymorphism	-
Q12955	ANK3_HUMAN	2996	Q	H	Polymorphism	-
Q12955	ANK3_HUMAN	1569	S	A	Unclassified	-
Q12955	ANK3_HUMAN	968	D	H	Unclassified	-
Q12955	ANK3_HUMAN	4257	I	V	Polymorphism	-
Q12955	ANK3_HUMAN	2318	K	R	Polymorphism	-
Q12955	ANK3_HUMAN	4255	T	P	Unclassified	-
Q12959	DLG1_HUMAN	278	R	Q	Polymorphism	-
Q12959	DLG1_HUMAN	140	K	R	Polymorphism	-
Q12959	DLG1_HUMAN	899	P	L	Polymorphism	-
Q12962	TAF10_HUMAN	92	I	T	Polymorphism	-
Q12965	MYO1E_HUMAN	185	D	G	Polymorphism	-
Q12965	MYO1E_HUMAN	795	G	R	Polymorphism	-
Q12965	MYO1E_HUMAN	221	A	V	Polymorphism	-
Q12965	MYO1E_HUMAN	1049	P	H	Polymorphism	-
Q12965	MYO1E_HUMAN	469	T	M	Polymorphism	-
Q12965	MYO1E_HUMAN	159	A	P	Disease	Focal segmental glomerulosclerosis 6 (FSGS6) [MIM:614131]
Q12967	GNDS_HUMAN	496	R	L	Unclassified	A colorectal cancer sample
Q12968	NFAC3_HUMAN	94	E	A	Polymorphism	-
Q12968	NFAC3_HUMAN	136	P	L	Polymorphism	-
Q12968	NFAC3_HUMAN	75	S	L	Polymorphism	-
Q12968	NFAC3_HUMAN	382	P	S	Polymorphism	-
Q12968	NFAC3_HUMAN	100	L	S	Polymorphism	-
Q12979	ABR_HUMAN	517	K	R	Polymorphism	-
Q12980	NPRL3_HUMAN	92	R	Q	Unclassified	Epilepsy, familial focal, with variable foci 3 (FFEVF3) [MIM:617118]
Q12980	NPRL3_HUMAN	249	E	K	Unclassified	Epilepsy, familial focal, with variable foci 3 (FFEVF3) [MIM:617118]
Q12981	SEC20_HUMAN	14	Q	H	Polymorphism	-
Q12982	BNIP2_HUMAN	24	S	T	Polymorphism	-
Q12986	NFX1_HUMAN	1086	P	Q	Polymorphism	-
Q12986	NFX1_HUMAN	731	H	Y	Polymorphism	-
Q12986	NFX1_HUMAN	760	P	S	Polymorphism	-
Q12988	HSPB3_HUMAN	7	R	S	Disease	Neuronopathy, distal hereditary motor, 2C (HMN2C) [MIM:613376]
Q12988	HSPB3_HUMAN	67	G	S	Polymorphism	-
Q13002	GRIK2_HUMAN	567	I	V	Unclassified	-
Q13002	GRIK2_HUMAN	187	E	Q	Unclassified	A breast cancer sample
Q13002	GRIK2_HUMAN	621	Q	R	Unclassified	-
Q13002	GRIK2_HUMAN	571	Y	C	Unclassified	-
Q13002	GRIK2_HUMAN	657	A	T	Disease	-
Q13002	GRIK2_HUMAN	766	V	I	Polymorphism	-
Q13002	GRIK2_HUMAN	867	M	I	Polymorphism	-
Q13003	GRIK3_HUMAN	391	D	H	Unclassified	A breast cancer sample
Q13003	GRIK3_HUMAN	215	R	H	Unclassified	A colorectal cancer sample
Q13003	GRIK3_HUMAN	310	S	A	Polymorphism	-
Q13003	GRIK3_HUMAN	352	R	Q	Unclassified	-
Q13007	IL24_HUMAN	124	Y	H	Polymorphism	-
Q13007	IL24_HUMAN	131	V	L	Polymorphism	-
Q13007	IL24_HUMAN	125	H	R	Polymorphism	-
Q13009	TIAM1_HUMAN	1007	R	H	Polymorphism	-
Q13009	TIAM1_HUMAN	1023	D	V	Polymorphism	-
Q13009	TIAM1_HUMAN	844	Q	H	Polymorphism	-
Q13009	TIAM1_HUMAN	1339	A	V	Unclassified	A colorectal cancer sample
Q13009	TIAM1_HUMAN	678	R	C	Unclassified	A colorectal cancer sample
Q13009	TIAM1_HUMAN	247	G	V	Polymorphism	-
Q13009	TIAM1_HUMAN	247	G	R	Polymorphism	-
Q13011	ECH1_HUMAN	41	E	A	Polymorphism	-
Q13011	ECH1_HUMAN	217	G	R	Polymorphism	-
Q13017	RHG05_HUMAN	17	I	V	Polymorphism	-
Q13018	PLA2R_HUMAN	1106	G	S	Polymorphism	-
Q13018	PLA2R_HUMAN	292	M	V	Polymorphism	-
Q13018	PLA2R_HUMAN	300	H	D	Polymorphism	-
Q13018	PLA2R_HUMAN	142	R	Q	Polymorphism	-
Q13018	PLA2R_HUMAN	279	I	V	Polymorphism	-
Q13018	PLA2R_HUMAN	370	A	E	Polymorphism	-
Q13018	PLA2R_HUMAN	404	R	H	Polymorphism	-
Q13018	PLA2R_HUMAN	177	P	S	Polymorphism	-
Q13023	AKAP6_HUMAN	408	N	S	Polymorphism	-
Q13023	AKAP6_HUMAN	558	N	D	Polymorphism	-
Q13023	AKAP6_HUMAN	910	K	M	Unclassified	A breast cancer sample
Q13023	AKAP6_HUMAN	2209	D	H	Polymorphism	-
Q13023	AKAP6_HUMAN	892	E	K	Polymorphism	-
Q13023	AKAP6_HUMAN	1516	T	A	Polymorphism	-
Q13023	AKAP6_HUMAN	1839	P	T	Unclassified	A colorectal cancer sample
Q13023	AKAP6_HUMAN	1702	E	Q	Unclassified	A breast cancer sample
Q13023	AKAP6_HUMAN	1492	A	V	Polymorphism	-
Q13023	AKAP6_HUMAN	2171	F	Y	Polymorphism	-
Q13023	AKAP6_HUMAN	2267	E	D	Polymorphism	-
Q13023	AKAP6_HUMAN	1522	V	I	Polymorphism	-
Q13023	AKAP6_HUMAN	2035	N	D	Polymorphism	-
Q13023	AKAP6_HUMAN	337	A	V	Polymorphism	-
Q13023	AKAP6_HUMAN	1192	M	I	Unclassified	A breast cancer sample
Q13029	PRDM2_HUMAN	450	S	N	Polymorphism	-
Q13029	PRDM2_HUMAN	283	D	E	Polymorphism	-
Q13033	STRN3_HUMAN	471	N	S	Polymorphism	-
Q13043	STK4_HUMAN	310	R	Q	Polymorphism	-
Q13043	STK4_HUMAN	416	P	L	Polymorphism	-
Q13043	STK4_HUMAN	355	I	T	Polymorphism	-
Q13043	STK4_HUMAN	312	V	M	Polymorphism	-
Q13043	STK4_HUMAN	162	H	N	Polymorphism	-
Q13045	FLII_HUMAN	1243	R	H	Polymorphism	-
Q13046	PSG7_HUMAN	65	Y	H	Polymorphism	-
Q13049	TRI32_HUMAN	394	R	H	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 8 (LGMDR8) [MIM:254110]
Q13049	TRI32_HUMAN	487	D	N	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 8 (LGMDR8) [MIM:254110]
Q13049	TRI32_HUMAN	408	R	C	Polymorphism	-
Q13049	TRI32_HUMAN	257	T	R	Polymorphism	-
Q13049	TRI32_HUMAN	130	P	S	Disease	Bardet-Biedl syndrome 11 (BBS11) [MIM:615988]
Q13049	TRI32_HUMAN	299	R	Q	Unclassified	-
Q13057	COASY_HUMAN	499	R	C	Disease	Neurodegeneration with brain iron accumulation 6 (NBIA6) [MIM:615643]
Q13057	COASY_HUMAN	55	S	Y	Polymorphism	-
Q13061	TRDN_HUMAN	59	T	R	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (CPVT5) [MIM:615441]
Q13061	TRDN_HUMAN	339	S	N	Polymorphism	-
Q13061	TRDN_HUMAN	404	V	G	Polymorphism	-
Q13061	TRDN_HUMAN	128	T	S	Polymorphism	-
Q13061	TRDN_HUMAN	396	K	N	Polymorphism	-
Q13061	TRDN_HUMAN	438	I	S	Polymorphism	-
Q13061	TRDN_HUMAN	419	D	E	Polymorphism	-
Q13061	TRDN_HUMAN	201	L	V	Polymorphism	-
Q13061	TRDN_HUMAN	540	I	M	Polymorphism	-
Q13061	TRDN_HUMAN	470	L	M	Polymorphism	-
Q13064	MKRN3_HUMAN	365	R	S	Disease	Precocious puberty, central 2 (CPPB2) [MIM:615346]
Q13064	MKRN3_HUMAN	417	F	I	Disease	Precocious puberty, central 2 (CPPB2) [MIM:615346]
Q13064	MKRN3_HUMAN	145	T	M	Unclassified	A colorectal cancer sample
Q13064	MKRN3_HUMAN	340	C	G	Disease	Precocious puberty, central 2 (CPPB2) [MIM:615346]
Q13064	MKRN3_HUMAN	239	S	T	Unclassified	A colorectal cancer sample
Q13064	MKRN3_HUMAN	420	H	Q	Disease	Precocious puberty, central 2 (CPPB2) [MIM:615346]
Q13075	BIRC1_HUMAN	535	V	M	Polymorphism	-
Q13077	TRAF1_HUMAN	139	M	T	Polymorphism	-
Q13084	RM28_HUMAN	27	H	Y	Polymorphism	-
Q13084	RM28_HUMAN	160	D	E	Polymorphism	-
Q13084	RM28_HUMAN	230	Y	C	Polymorphism	-
Q13085	ACACA_HUMAN	838	R	W	Polymorphism	-
Q13085	ACACA_HUMAN	2271	A	V	Polymorphism	-
Q13085	ACACA_HUMAN	1687	R	Q	Unclassified	A colorectal cancer sample
Q13087	PDIA2_HUMAN	119	T	R	Polymorphism	-
Q13087	PDIA2_HUMAN	185	E	K	Polymorphism	-
Q13087	PDIA2_HUMAN	388	R	Q	Polymorphism	-
Q13087	PDIA2_HUMAN	39	P	S	Polymorphism	-
Q13087	PDIA2_HUMAN	502	P	S	Polymorphism	-
Q13087	PDIA2_HUMAN	286	T	M	Polymorphism	-
Q13087	PDIA2_HUMAN	382	P	A	Polymorphism	-
Q13093	PAFA_HUMAN	379	V	A	Polymorphism	-
Q13093	PAFA_HUMAN	45	L	P	Polymorphism	-
Q13093	PAFA_HUMAN	281	Q	R	Disease	Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278]
Q13093	PAFA_HUMAN	191	K	N	Polymorphism	-
Q13093	PAFA_HUMAN	92	R	H	Polymorphism	-
Q13093	PAFA_HUMAN	198	I	T	Polymorphism	-
Q13093	PAFA_HUMAN	279	V	F	Disease	Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278]
Q13094	LCP2_HUMAN	410	S	C	Polymorphism	-
Q13099	IFT88_HUMAN	383	M	I	Polymorphism	-
Q13099	IFT88_HUMAN	671	S	G	Polymorphism	-
Q13099	IFT88_HUMAN	455	S	N	Polymorphism	-
Q13103	SPP24_HUMAN	38	S	F	Polymorphism	-
Q13106	ZN154_HUMAN	122	G	V	Polymorphism	-
Q13106	ZN154_HUMAN	182	L	V	Polymorphism	-
Q13106	ZN154_HUMAN	57	H	R	Polymorphism	-
Q13106	ZN154_HUMAN	384	P	L	Polymorphism	-
Q13107	UBP4_HUMAN	620	Y	C	Polymorphism	-
Q13111	CAF1A_HUMAN	950	A	S	Polymorphism	-
Q13111	CAF1A_HUMAN	850	K	R	Polymorphism	-
Q13111	CAF1A_HUMAN	167	D	V	Polymorphism	-
Q13111	CAF1A_HUMAN	239	M	V	Polymorphism	-
Q13111	CAF1A_HUMAN	923	A	V	Polymorphism	-
Q13112	CAF1B_HUMAN	506	K	Q	Polymorphism	-
Q13114	TRAF3_HUMAN	129	M	T	Polymorphism	-
Q13114	TRAF3_HUMAN	118	R	W	Disease	Encephalopathy, acute, infection-induced, Herpes-specific, 5 (IIAE5) [MIM:614849]
Q13118	KLF10_HUMAN	249	S	F	Polymorphism	-
Q13126	MTAP_HUMAN	56	V	I	Polymorphism	-
Q13127	REST_HUMAN	626	V	I	Polymorphism	-
Q13127	REST_HUMAN	762	K	Q	Polymorphism	-
Q13127	REST_HUMAN	412	H	Q	Disease	Wilms tumor 6 (WT6) [MIM:616806]
Q13127	REST_HUMAN	692	E	D	Polymorphism	-
Q13127	REST_HUMAN	797	P	L	Polymorphism	-
Q13127	REST_HUMAN	322	H	R	Disease	Wilms tumor 6 (WT6) [MIM:616806]
Q13127	REST_HUMAN	160	R	P	Disease	Wilms tumor 6 (WT6) [MIM:616806]
Q13127	REST_HUMAN	290	N	Y	Disease	Wilms tumor 6 (WT6) [MIM:616806]
Q13129	RLF_HUMAN	1685	Q	E	Polymorphism	-
Q13129	RLF_HUMAN	957	G	D	Polymorphism	-
Q13129	RLF_HUMAN	1784	E	D	Polymorphism	-
Q13129	RLF_HUMAN	932	V	A	Polymorphism	-
Q13129	RLF_HUMAN	1629	P	L	Polymorphism	-
Q13129	RLF_HUMAN	668	R	K	Polymorphism	-
Q13131	AAPK1_HUMAN	16	Q	R	Unclassified	A breast cancer sample
Q13131	AAPK1_HUMAN	10	M	L	Polymorphism	-
Q13133	NR1H3_HUMAN	52	G	V	Polymorphism	-
Q13136	LIPA1_HUMAN	1072	L	F	Polymorphism	-
Q13136	LIPA1_HUMAN	71	V	I	Polymorphism	-
Q13137	CACO2_HUMAN	248	V	A	Polymorphism	-
Q13137	CACO2_HUMAN	389	P	A	Polymorphism	-
Q13137	CACO2_HUMAN	273	T	A	Polymorphism	-
Q13137	CACO2_HUMAN	140	G	E	Polymorphism	-
Q13137	CACO2_HUMAN	227	G	R	Polymorphism	-
Q13144	EI2BE_HUMAN	270	D	H	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	310	C	F	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	195	R	H	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	628	W	R	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	106	L	F	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	335	C	R	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	113	R	H	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	68	L	S	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	74	A	T	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	376	N	D	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	339	R	W	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	335	C	S	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	269	R	Q	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	447	S	L	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	315	R	G	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	91	T	A	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	386	G	V	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	113	R	C	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	315	R	H	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	430	V	A	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	299	R	H	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	195	R	C	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	339	R	P	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	587	I	V	Polymorphism	-
Q13144	EI2BE_HUMAN	200	N	T	Polymorphism	-
Q13144	EI2BE_HUMAN	269	R	G	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	73	V	G	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	339	R	Q	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	62	D	V	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	315	R	C	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13144	EI2BE_HUMAN	650	E	K	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q13148	TADBP_HUMAN	382	A	T	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	295	G	R	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	294	G	V	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	335	G	D	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	337	M	V	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	348	G	C	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	361	R	S	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	287	G	S	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	295	G	S	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	90	A	V	Polymorphism	-
Q13148	TADBP_HUMAN	169	D	G	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	298	G	S	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	267	N	S	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	315	A	T	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	343	Q	R	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	332	S	N	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	294	G	A	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	393	S	L	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	331	Q	K	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	361	R	T	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	290	G	A	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	390	N	D	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	379	S	C	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	357	G	R	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	390	N	S	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13148	TADBP_HUMAN	379	S	P	Disease	Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
Q13153	PAK1_HUMAN	131	Y	C	Disease	Intellectual developmental disorder with macrocephaly, seizures, and speech delay (IDDMSSD) [MIM:618158]
Q13153	PAK1_HUMAN	515	L	V	Polymorphism	-
Q13153	PAK1_HUMAN	429	Y	C	Disease	Intellectual developmental disorder with macrocephaly, seizures, and speech delay (IDDMSSD) [MIM:618158]
Q13155	AIMP2_HUMAN	129	A	G	Polymorphism	-
Q13155	AIMP2_HUMAN	92	I	V	Unclassified	A lung cancer cell line
Q13155	AIMP2_HUMAN	209	G	S	Unclassified	A lung cancer cell line
Q13155	AIMP2_HUMAN	166	L	I	Polymorphism	-
Q13156	RFA4_HUMAN	33	A	T	Polymorphism	-
Q13158	FADD_HUMAN	105	C	W	Disease	Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759]
Q13163	MP2K5_HUMAN	427	A	V	Polymorphism	-
Q13163	MP2K5_HUMAN	118	H	R	Polymorphism	-
Q13163	MP2K5_HUMAN	428	A	T	Polymorphism	-
Q13164	MK07_HUMAN	535	R	H	Polymorphism	-
Q13164	MK07_HUMAN	550	G	A	Polymorphism	-
Q13183	S13A2_HUMAN	254	F	L	Polymorphism	-
Q13183	S13A2_HUMAN	45	M	L	Polymorphism	-
Q13183	S13A2_HUMAN	477	V	M	Polymorphism	-
Q13183	S13A2_HUMAN	550	I	V	Polymorphism	-
Q13183	S13A2_HUMAN	310	A	P	Polymorphism	-
Q13183	S13A2_HUMAN	44	L	F	Polymorphism	-
Q13183	S13A2_HUMAN	385	P	S	Polymorphism	-
Q13188	STK3_HUMAN	418	F	C	Polymorphism	-
Q13188	STK3_HUMAN	60	V	L	Unclassified	An ovarian clear cell carcinoma sample
Q13190	STX5_HUMAN	138	I	V	Unclassified	-
Q13190	STX5_HUMAN	72	Q	H	Polymorphism	-
Q13190	STX5_HUMAN	51	P	L	Polymorphism	-
Q13190	STX5_HUMAN	79	Q	H	Unclassified	A breast cancer sample
Q13191	CBLB_HUMAN	883	N	D	Polymorphism	-
Q13191	CBLB_HUMAN	584	R	K	Polymorphism	-
Q13200	PSMD2_HUMAN	724	N	Y	Polymorphism	-
Q13200	PSMD2_HUMAN	176	A	T	Polymorphism	-
Q13200	PSMD2_HUMAN	313	E	D	Polymorphism	-
Q13201	MMRN1_HUMAN	883	G	D	Polymorphism	-
Q13201	MMRN1_HUMAN	964	T	R	Polymorphism	-
Q13201	MMRN1_HUMAN	58	T	A	Polymorphism	-
Q13201	MMRN1_HUMAN	805	T	A	Polymorphism	-
Q13203	MYBPH_HUMAN	48	Q	H	Polymorphism	-
Q13203	MYBPH_HUMAN	114	A	G	Polymorphism	-
Q13203	MYBPH_HUMAN	49	A	G	Polymorphism	-
Q13206	DDX10_HUMAN	566	L	V	Unclassified	A breast cancer sample
Q13207	TBX2_HUMAN	305	R	H	Disease	Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) [MIM:618223]
Q13207	TBX2_HUMAN	20	R	Q	Unclassified	Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) [MIM:618223]
Q13214	SEM3B_HUMAN	415	T	I	Unclassified	A non-small cell lung cancer cell line
Q13214	SEM3B_HUMAN	397	D	H	Unclassified	A non-small cell lung cancer cell line
Q13214	SEM3B_HUMAN	348	R	C	Unclassified	A non-small cell lung cancer cell line
Q13216	ERCC8_HUMAN	361	W	C	Disease	UV-sensitive syndrome 2 (UVSS2) [MIM:614621]
Q13216	ERCC8_HUMAN	202	L	S	Disease	Cockayne syndrome A (CSA) [MIM:216400]
Q13216	ERCC8_HUMAN	160	A	T	Disease	Cockayne syndrome A (CSA) [MIM:216400]
Q13216	ERCC8_HUMAN	160	A	V	Disease	Cockayne syndrome A (CSA) [MIM:216400]
Q13216	ERCC8_HUMAN	266	D	G	Disease	Cockayne syndrome A (CSA) [MIM:216400]
Q13216	ERCC8_HUMAN	205	A	P	Disease	Cockayne syndrome A (CSA) [MIM:216400]
Q13216	ERCC8_HUMAN	200	Y	C	Polymorphism	-
Q13216	ERCC8_HUMAN	150	S	C	Polymorphism	-
Q13216	ERCC8_HUMAN	194	W	C	Disease	Cockayne syndrome A (CSA) [MIM:216400]
Q13219	PAPP1_HUMAN	1224	S	Y	Polymorphism	-
Q13219	PAPP1_HUMAN	5	S	I	Polymorphism	-
Q13219	PAPP1_HUMAN	325	P	L	Polymorphism	-
Q13219	PAPP1_HUMAN	944	S	R	Polymorphism	-
Q13224	NMDE2_HUMAN	271	A	V	Polymorphism	-
Q13224	NMDE2_HUMAN	696	R	H	Disease	Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
Q13224	NMDE2_HUMAN	18	V	I	Polymorphism	-
Q13224	NMDE2_HUMAN	1424	L	F	Polymorphism	-
Q13224	NMDE2_HUMAN	540	R	H	Disease	Epileptic encephalopathy, early infantile, 27 (EIEE27) [MIM:616139]
Q13224	NMDE2_HUMAN	407	S	N	Polymorphism	-
Q13224	NMDE2_HUMAN	1415	S	L	Unclassified	-
Q13224	NMDE2_HUMAN	1452	S	F	Unclassified	-
Q13224	NMDE2_HUMAN	1342	M	R	Polymorphism	-
Q13224	NMDE2_HUMAN	362	L	M	Unclassified	-
Q13224	NMDE2_HUMAN	456	C	Y	Disease	Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
Q13224	NMDE2_HUMAN	618	V	G	Disease	Epileptic encephalopathy, early infantile, 27 (EIEE27) [MIM:616139]
Q13224	NMDE2_HUMAN	820	G	E	Disease	Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
Q13224	NMDE2_HUMAN	825	L	V	Disease	-
Q13224	NMDE2_HUMAN	1026	G	S	Polymorphism	-
Q13224	NMDE2_HUMAN	436	C	R	Disease	Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
Q13224	NMDE2_HUMAN	1439	P	A	Unclassified	-
Q13224	NMDE2_HUMAN	50	I	N	Unclassified	-
Q13224	NMDE2_HUMAN	1014	Q	R	Unclassified	-
Q13224	NMDE2_HUMAN	615	N	I	Disease	Epileptic encephalopathy, early infantile, 27 (EIEE27) [MIM:616139]
Q13224	NMDE2_HUMAN	15	V	M	Unclassified	Epileptic encephalopathy, early infantile, 27 (EIEE27) [MIM:616139]
Q13224	NMDE2_HUMAN	682	R	C	Disease	Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
Q13224	NMDE2_HUMAN	461	C	F	Disease	Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
Q13224	NMDE2_HUMAN	553	P	L	Disease	Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
Q13224	NMDE2_HUMAN	413	E	G	Disease	Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
Q13227	GPS2_HUMAN	306	T	A	Polymorphism	-
Q13228	SBP1_HUMAN	225	G	W	Disease	Extraoral halitosis due to methanethiol oxidase deficiency (EHMTO) [MIM:618148]
Q13228	SBP1_HUMAN	329	H	Y	Disease	Extraoral halitosis due to methanethiol oxidase deficiency (EHMTO) [MIM:618148]
Q13231	CHIT1_HUMAN	171	Q	H	Polymorphism	-
Q13231	CHIT1_HUMAN	40	R	H	Polymorphism	-
Q13231	CHIT1_HUMAN	102	G	S	Polymorphism	-
Q13231	CHIT1_HUMAN	442	A	G	Polymorphism	-
Q13231	CHIT1_HUMAN	74	E	K	Polymorphism	-
Q13233	M3K1_HUMAN	906	V	I	Polymorphism	-
Q13233	M3K1_HUMAN	443	C	S	Polymorphism	-
Q13233	M3K1_HUMAN	92	S	N	Polymorphism	-
Q13233	M3K1_HUMAN	189	L	R	Disease	46,XY sex reversal 6 (SRXY6) [MIM:613762]
Q13233	M3K1_HUMAN	616	G	R	Disease	46,XY sex reversal 6 (SRXY6) [MIM:613762]
Q13233	M3K1_HUMAN	189	L	P	Disease	46,XY sex reversal 6 (SRXY6) [MIM:613762]
Q13233	M3K1_HUMAN	806	D	N	Polymorphism	-
Q13237	KGP2_HUMAN	716	W	R	Unclassified	A colorectal adenocarcinoma sample
Q13237	KGP2_HUMAN	106	H	R	Polymorphism	-
Q13237	KGP2_HUMAN	22	T	S	Polymorphism	-
Q13239	SLAP1_HUMAN	15	P	T	Polymorphism	-
Q13241	KLRD1_HUMAN	25	S	A	Polymorphism	-
Q13243	SRSF5_HUMAN	160	A	S	Polymorphism	-
Q13247	SRSF6_HUMAN	145	R	Q	Unclassified	A colorectal cancer sample
Q13253	NOGG_HUMAN	205	W	C	Disease	Symphalangism, proximal 1A (SYM1A) [MIM:185800]
Q13253	NOGG_HUMAN	184	C	Y	Disease	Symphalangism, proximal 1A (SYM1A) [MIM:185800]
Q13253	NOGG_HUMAN	35	P	R	Disease	Tarsal-carpal coalition syndrome (TCC) [MIM:186570]
Q13253	NOGG_HUMAN	204	R	L	Disease	Tarsal-carpal coalition syndrome (TCC) [MIM:186570]
Q13253	NOGG_HUMAN	222	Y	C	Disease	Symphalangism, proximal 1A (SYM1A) [MIM:185800]
Q13253	NOGG_HUMAN	187	P	S	Disease	Brachydactyly B2 (BDB2) [MIM:611377]
Q13253	NOGG_HUMAN	232	C	W	Disease	Multiple synostoses syndrome 1 (SYNS1) [MIM:186500]
Q13253	NOGG_HUMAN	222	Y	D	Disease	Symphalangism, proximal 1A (SYM1A) [MIM:185800]
Q13253	NOGG_HUMAN	35	P	R	Disease	Symphalangism, proximal 1A (SYM1A) [MIM:185800]
Q13253	NOGG_HUMAN	222	Y	C	Disease	Tarsal-carpal coalition syndrome (TCC) [MIM:186570]
Q13253	NOGG_HUMAN	220	I	N	Disease	Symphalangism, proximal 1A (SYM1A) [MIM:185800]
Q13253	NOGG_HUMAN	48	E	K	Disease	Brachydactyly B2 (BDB2) [MIM:611377]
Q13253	NOGG_HUMAN	35	P	A	Disease	Brachydactyly B2 (BDB2) [MIM:611377]
Q13253	NOGG_HUMAN	167	R	G	Disease	Brachydactyly B2 (BDB2) [MIM:611377]
Q13253	NOGG_HUMAN	35	P	S	Disease	Symphalangism, proximal 1A (SYM1A) [MIM:185800]
Q13253	NOGG_HUMAN	223	P	L	Disease	Symphalangism, proximal 1A (SYM1A) [MIM:185800]
Q13253	NOGG_HUMAN	189	G	C	Disease	Symphalangism, proximal 1A (SYM1A) [MIM:185800]
Q13253	NOGG_HUMAN	217	W	G	Disease	Multiple synostoses syndrome 1 (SYNS1) [MIM:186500]
Q13253	NOGG_HUMAN	35	P	S	Disease	Brachydactyly B2 (BDB2) [MIM:611377]
Q13253	NOGG_HUMAN	36	A	P	Disease	Brachydactyly B2 (BDB2) [MIM:611377]
Q13255	GRM1_HUMAN	34	S	Y	Polymorphism	-
Q13255	GRM1_HUMAN	929	V	I	Polymorphism	-
Q13255	GRM1_HUMAN	741	E	D	Polymorphism	-
Q13255	GRM1_HUMAN	993	S	P	Polymorphism	-
Q13255	GRM1_HUMAN	454	L	F	Disease	Spinocerebellar ataxia, autosomal recessive, 13 (SCAR13) [MIM:614831]
Q13255	GRM1_HUMAN	884	G	E	Polymorphism	-
Q13255	GRM1_HUMAN	262	Y	C	Disease	Spinocerebellar ataxia 44 (SCA44) [MIM:617691]
Q13255	GRM1_HUMAN	593	S	P	Polymorphism	-
Q13255	GRM1_HUMAN	792	Y	C	Disease	Spinocerebellar ataxia 44 (SCA44) [MIM:617691]
Q13255	GRM1_HUMAN	285	R	K	Polymorphism	-
Q13255	GRM1_HUMAN	696	R	W	Unclassified	A colorectal cancer sample
Q13258	PD2R_HUMAN	7	R	C	Polymorphism	-
Q13258	PD2R_HUMAN	332	R	Q	Polymorphism	-
Q13258	PD2R_HUMAN	301	E	A	Polymorphism	-
Q13258	PD2R_HUMAN	198	G	E	Polymorphism	-
Q13261	I15RA_HUMAN	182	N	T	Polymorphism	-
Q13263	TIF1B_HUMAN	794	T	M	Polymorphism	-
Q13268	DHRS2_HUMAN	272	A	V	Unclassified	A colorectal cancer sample
Q13275	SEM3F_HUMAN	474	A	G	Polymorphism	-
Q13275	SEM3F_HUMAN	503	L	M	Polymorphism	-
Q13277	STX3_HUMAN	285	S	P	Polymorphism	-
Q13277	STX3_HUMAN	276	G	S	Polymorphism	-
Q13277	STX3_HUMAN	83	E	D	Polymorphism	-
Q13285	STF1_HUMAN	123	G	A	Disease	Premature ovarian failure 7 (POF7) [MIM:612964]
Q13285	STF1_HUMAN	65	C	Y	Disease	46,XY sex reversal 3 (SRXY3) [MIM:612965]
Q13285	STF1_HUMAN	131	P	L	Disease	Spermatogenic failure 8 (SPGF8) [MIM:613957]
Q13285	STF1_HUMAN	40	T	P	Disease	46,XY sex reversal 3 (SRXY3) [MIM:612965]
Q13285	STF1_HUMAN	212	G	S	Disease	Spermatogenic failure 8 (SPGF8) [MIM:613957]
Q13285	STF1_HUMAN	91	G	S	Disease	46,XY sex reversal 3 (SRXY3) [MIM:612965]
Q13285	STF1_HUMAN	129	P	L	Disease	Spermatogenic failure 8 (SPGF8) [MIM:613957]
Q13285	STF1_HUMAN	78	M	I	Disease	46,XY sex reversal 3 (SRXY3) [MIM:612965]
Q13285	STF1_HUMAN	437	L	Q	Disease	46,XY sex reversal 3 (SRXY3) [MIM:612965]
Q13285	STF1_HUMAN	84	R	H	Disease	46,XY sex reversal 3 (SRXY3) [MIM:612965]
Q13285	STF1_HUMAN	92	R	W	Disease	46,XY sex reversal 3 (SRXY3) [MIM:612965]
Q13285	STF1_HUMAN	238	D	N	Disease	Spermatogenic failure 8 (SPGF8) [MIM:613957]
Q13285	STF1_HUMAN	33	C	S	Disease	46,XY sex reversal 3 (SRXY3) [MIM:612965]
Q13285	STF1_HUMAN	92	R	Q	Disease	46,XY sex reversal 3 (SRXY3) [MIM:612965]
Q13285	STF1_HUMAN	146	G	A	Polymorphism	-
Q13285	STF1_HUMAN	293	D	N	Disease	Premature ovarian failure 7 (POF7) [MIM:612964]
Q13285	STF1_HUMAN	15	V	M	Disease	46,XY sex reversal 3 (SRXY3) [MIM:612965]
Q13285	STF1_HUMAN	92	R	Q	Disease	Adrenal insufficiency, NR5A1-related (AINR) [MIM:612964]
Q13285	STF1_HUMAN	255	R	L	Disease	Adrenal insufficiency, NR5A1-related (AINR) [MIM:612964]
Q13285	STF1_HUMAN	92	R	W	Disease	46,XX sex reversal 4 (SRXX4) [MIM:617480]
Q13285	STF1_HUMAN	129	P	L	Disease	Premature ovarian failure 7 (POF7) [MIM:612964]
Q13285	STF1_HUMAN	35	G	E	Disease	46,XY sex reversal 3 (SRXY3) [MIM:612965]
Q13285	STF1_HUMAN	92	R	Q	Disease	46,XX sex reversal 4 (SRXX4) [MIM:617480]
Q13285	STF1_HUMAN	191	R	C	Disease	Spermatogenic failure 8 (SPGF8) [MIM:613957]
Q13285	STF1_HUMAN	123	G	A	Disease	Spermatogenic failure 8 (SPGF8) [MIM:613957]
Q13286	CLN3_HUMAN	330	V	F	Disease	Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286	CLN3_HUMAN	189	G	R	Disease	Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286	CLN3_HUMAN	134	C	R	Disease	Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286	CLN3_HUMAN	187	G	A	Disease	Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286	CLN3_HUMAN	295	E	K	Disease	Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286	CLN3_HUMAN	334	R	C	Disease	Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286	CLN3_HUMAN	334	R	H	Disease	Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286	CLN3_HUMAN	170	L	P	Disease	Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286	CLN3_HUMAN	101	L	P	Disease	Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13287	NMI_HUMAN	16	S	L	Polymorphism	-
Q13291	SLAF1_HUMAN	11	F	L	Polymorphism	-
Q13291	SLAF1_HUMAN	333	P	T	Polymorphism	-
Q13291	SLAF1_HUMAN	81	L	F	Unclassified	A breast cancer sample
Q13308	PTK7_HUMAN	276	R	H	Polymorphism	-
Q13308	PTK7_HUMAN	933	A	V	Unclassified	A colorectal adenocarcinoma sample
Q13308	PTK7_HUMAN	1029	P	T	Polymorphism	-
Q13308	PTK7_HUMAN	410	T	S	Polymorphism	-
Q13308	PTK7_HUMAN	783	H	R	Polymorphism	-
Q13308	PTK7_HUMAN	766	E	Q	Polymorphism	-
Q13308	PTK7_HUMAN	745	E	D	Polymorphism	-
Q13308	PTK7_HUMAN	1038	R	Q	Polymorphism	-
Q13308	PTK7_HUMAN	777	A	V	Polymorphism	-
Q13309	SKP2_HUMAN	87	L	I	Polymorphism	-
Q13309	SKP2_HUMAN	85	P	L	Polymorphism	-
Q13310	PABP4_HUMAN	382	Y	F	Polymorphism	-
Q13315	ATM_HUMAN	2855	S	R	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1046	L	P	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	337	R	H	Unclassified	A colorectal adenocarcinoma sample
Q13315	ATM_HUMAN	2832	R	C	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1991	E	D	Unclassified	A renal clear cell carcinoma sample
Q13315	ATM_HUMAN	2443	R	Q	Unclassified	A colorectal adenocarcinoma sample
Q13315	ATM_HUMAN	935	T	M	Polymorphism	-
Q13315	ATM_HUMAN	1566	P	R	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1407	I	T	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	2356	I	F	Unclassified	A renal clear cell carcinoma sample
Q13315	ATM_HUMAN	2287	G	A	Polymorphism	-
Q13315	ATM_HUMAN	2396	T	S	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	2227	R	C	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	250	R	Q	Polymorphism	-
Q13315	ATM_HUMAN	3003	N	D	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2486	R	G	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	2827	F	C	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	814	D	E	Polymorphism	-
Q13315	ATM_HUMAN	1961	Y	C	Polymorphism	-
Q13315	ATM_HUMAN	2068	L	S	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2904	E	G	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1179	S	F	Unclassified	A gastric adenocarcinoma sample
Q13315	ATM_HUMAN	2656	L	P	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2492	L	R	Polymorphism	-
Q13315	ATM_HUMAN	1739	N	T	Unclassified	A colorectal adenocarcinoma sample
Q13315	ATM_HUMAN	1913	V	G	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	410	V	A	Polymorphism	-
Q13315	ATM_HUMAN	1953	T	R	Unclassified	B-cell chronic lymphocytic leukemia
Q13315	ATM_HUMAN	2023	G	R	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2849	R	P	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1321	M	I	Polymorphism	-
Q13315	ATM_HUMAN	2408	S	L	Unclassified	A colorectal adenocarcinoma sample
Q13315	ATM_HUMAN	292	P	L	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	942	L	F	Polymorphism	-
Q13315	ATM_HUMAN	2335	T	K	Polymorphism	-
Q13315	ATM_HUMAN	350	A	T	Unclassified	B-cell chronic lymphocytic leukemia
Q13315	ATM_HUMAN	1420	L	P	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1983	S	N	Polymorphism	-
Q13315	ATM_HUMAN	2332	L	P	Polymorphism	-
Q13315	ATM_HUMAN	3018	K	N	Unclassified	B-cell chronic lymphocytic leukemia
Q13315	ATM_HUMAN	2695	G	A	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	1427	A	T	Polymorphism	-
Q13315	ATM_HUMAN	1469	I	M	Unclassified	A renal papillary cancer sample
Q13315	ATM_HUMAN	2625	D	Q	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2842	P	R	Unclassified	A lung adenocarcinoma sample
Q13315	ATM_HUMAN	2420	A	P	Unclassified	B-cell chronic lymphocytic leukemia
Q13315	ATM_HUMAN	2867	G	R	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1475	Y	C	Polymorphism	-
Q13315	ATM_HUMAN	2834	F	L	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2719	R	H	Polymorphism	-
Q13315	ATM_HUMAN	1091	E	D	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1691	S	R	Polymorphism	-
Q13315	ATM_HUMAN	352	I	T	Unclassified	B-cell chronic lymphocytic leukemia
Q13315	ATM_HUMAN	768	N	D	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	514	G	D	Polymorphism	-
Q13315	ATM_HUMAN	2063	G	E	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1382	P	S	Polymorphism	-
Q13315	ATM_HUMAN	2079	V	I	Polymorphism	-
Q13315	ATM_HUMAN	23	R	Q	Unclassified	A colorectal adenocarcinoma sample
Q13315	ATM_HUMAN	3008	R	H	Unclassified	B-cell chronic lymphocytic leukemia
Q13315	ATM_HUMAN	2307	L	F	Polymorphism	-
Q13315	ATM_HUMAN	2464	C	R	Polymorphism	-
Q13315	ATM_HUMAN	2668	E	G	Unclassified	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2491	W	R	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	540	C	Y	Unclassified	A colorectal adenocarcinoma sample
Q13315	ATM_HUMAN	2442	Q	P	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	950	L	R	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2274	A	T	Unclassified	B-cell chronic lymphocytic leukemia
Q13315	ATM_HUMAN	224	K	E	Unclassified	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	126	D	E	Polymorphism	-
Q13315	ATM_HUMAN	1380	H	Y	Polymorphism	-
Q13315	ATM_HUMAN	2909	R	G	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2829	P	L	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2870	D	N	Polymorphism	-
Q13315	ATM_HUMAN	2666	T	A	Unclassified	A lung adenocarcinoma sample
Q13315	ATM_HUMAN	333	S	F	Polymorphism	-
Q13315	ATM_HUMAN	3006	A	P	Unclassified	-
Q13315	ATM_HUMAN	2554	H	D	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	182	V	L	Polymorphism	-
Q13315	ATM_HUMAN	1001	L	Q	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2139	E	G	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	2423	E	G	Unclassified	Mantle cell lymphoma
Q13315	ATM_HUMAN	858	F	L	Polymorphism	-
Q13315	ATM_HUMAN	2890	L	V	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	2080	Y	D	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1463	F	S	Unclassified	-
Q13315	ATM_HUMAN	140	D	H	Polymorphism	-
Q13315	ATM_HUMAN	2218	S	C	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1420	L	F	Polymorphism	-
Q13315	ATM_HUMAN	2695	G	A	Unclassified	B-cell chronic lymphocytic leukemia
Q13315	ATM_HUMAN	1541	L	F	Polymorphism	-
Q13315	ATM_HUMAN	2709	G	S	Polymorphism	-
Q13315	ATM_HUMAN	570	F	S	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1040	M	V	Unclassified	-
Q13315	ATM_HUMAN	761	T	S	Polymorphism	-
Q13315	ATM_HUMAN	707	S	P	Polymorphism	-
Q13315	ATM_HUMAN	323	I	V	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2067	A	D	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2627	Y	H	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1570	V	A	Polymorphism	-
Q13315	ATM_HUMAN	3008	R	C	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2725	D	V	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	1465	L	P	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	504	N	S	Polymorphism	-
Q13315	ATM_HUMAN	848	E	Q	Unclassified	A lung adenocarcinoma sample
Q13315	ATM_HUMAN	337	R	C	Unclassified	A colorectal adenocarcinoma sample
Q13315	ATM_HUMAN	2016	D	G	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2424	V	G	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2640	T	I	Polymorphism	-
Q13315	ATM_HUMAN	2725	D	G	Unclassified	-
Q13315	ATM_HUMAN	1454	K	N	Polymorphism	-
Q13315	ATM_HUMAN	1945	A	T	Unclassified	A colorectal adenocarcinoma sample
Q13315	ATM_HUMAN	1729	V	L	Polymorphism	-
Q13315	ATM_HUMAN	332	Y	C	Unclassified	B-cell chronic lymphocytic leukemia
Q13315	ATM_HUMAN	1853	D	N	Polymorphism	-
Q13315	ATM_HUMAN	582	F	L	Polymorphism	-
Q13315	ATM_HUMAN	788	S	R	Polymorphism	-
Q13315	ATM_HUMAN	1082	H	L	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1910	L	H	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	785	R	C	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1322	L	I	Polymorphism	-
Q13315	ATM_HUMAN	49	S	C	Polymorphism	-
Q13315	ATM_HUMAN	2164	E	K	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	2726	A	V	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2470	Y	D	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2034	R	Q	Polymorphism	-
Q13315	ATM_HUMAN	1743	T	I	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	2765	G	S	Polymorphism	-
Q13315	ATM_HUMAN	2824	C	Y	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	1916	M	I	Unclassified	A breast pleomorphic lobular carcinoma sample
Q13315	ATM_HUMAN	2438	T	I	Polymorphism	-
Q13315	ATM_HUMAN	1313	E	Q	Polymorphism	-
Q13315	ATM_HUMAN	2570	E	G	Polymorphism	-
Q13315	ATM_HUMAN	1650	N	S	Polymorphism	-
Q13315	ATM_HUMAN	935	T	A	Polymorphism	-
Q13315	ATM_HUMAN	2722	L	R	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	872	P	S	Polymorphism	-
Q13315	ATM_HUMAN	1682	D	H	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	1054	P	R	Polymorphism	-
Q13315	ATM_HUMAN	2702	I	R	Disease	Ataxia telangiectasia (AT) [MIM:208900]
Q13315	ATM_HUMAN	924	R	W	Polymorphism	-
Q13315	ATM_HUMAN	1853	D	V	Polymorphism	-
Q13315	ATM_HUMAN	2732	F	L	Unclassified	T-prolymphocytic leukemia
Q13315	ATM_HUMAN	546	L	V	Polymorphism	-
Q13315	ATM_HUMAN	45	R	W	Polymorphism	-
Q13316	DMP1_HUMAN	117	D	N	Unclassified	One individual with tumoral calcinosis
Q13316	DMP1_HUMAN	463	K	R	Polymorphism	-
Q13316	DMP1_HUMAN	272	R	H	Polymorphism	-
Q13316	DMP1_HUMAN	69	S	C	Polymorphism	-
Q13322	GRB10_HUMAN	95	P	S	Polymorphism	-
Q13322	GRB10_HUMAN	36	P	L	Polymorphism	-
Q13322	GRB10_HUMAN	558	D	H	Polymorphism	-
Q13323	BIK_HUMAN	148	L	P	Polymorphism	-
Q13323	BIK_HUMAN	19	E	K	Polymorphism	-
Q13323	BIK_HUMAN	26	T	I	Polymorphism	-
Q13324	CRFR2_HUMAN	220	E	D	Polymorphism	-
Q13326	SGCG_HUMAN	116	R	H	Polymorphism	-
Q13326	SGCG_HUMAN	69	G	D	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700]
Q13326	SGCG_HUMAN	69	G	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700]
Q13326	SGCG_HUMAN	283	C	Y	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700]
Q13326	SGCG_HUMAN	71	L	S	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700]
Q13326	SGCG_HUMAN	287	N	S	Polymorphism	-
Q13330	MTA1_HUMAN	612	A	T	Polymorphism	-
Q13330	MTA1_HUMAN	372	V	I	Polymorphism	-
Q13332	PTPRS_HUMAN	996	T	M	Unclassified	A colorectal cancer sample
Q13332	PTPRS_HUMAN	1457	C	R	Polymorphism	-
Q13336	UT1_HUMAN	319	T	M	Polymorphism	-
Q13336	UT1_HUMAN	291	S	P	Polymorphism	-
Q13336	UT1_HUMAN	167	M	V	Polymorphism	-
Q13336	UT1_HUMAN	299	G	E	Polymorphism	-
Q13336	UT1_HUMAN	44	E	K	Polymorphism	-
Q13336	UT1_HUMAN	280	D	N	Polymorphism	-
Q13336	UT1_HUMAN	171	W	R	Polymorphism	-
Q13336	UT1_HUMAN	74	N	K	Polymorphism	-
Q13342	SP140_HUMAN	512	M	T	Polymorphism	-
Q13342	SP140_HUMAN	356	L	F	Polymorphism	-
Q13342	SP140_HUMAN	558	R	C	Polymorphism	-
Q13342	SP140_HUMAN	516	E	K	Polymorphism	-
Q13351	KLF1_HUMAN	331	R	G	Unclassified	-
Q13351	KLF1_HUMAN	328	R	H	Polymorphism	-
Q13351	KLF1_HUMAN	325	E	K	Disease	Anemia, congenital dyserythropoietic, 4 (CDAN4) [MIM:613673]
Q13351	KLF1_HUMAN	299	H	Y	Polymorphism	-
Q13351	KLF1_HUMAN	182	F	L	Polymorphism	-
Q13351	KLF1_HUMAN	338	P	S	Polymorphism	-
Q13351	KLF1_HUMAN	328	R	L	Unclassified	-
Q13351	KLF1_HUMAN	334	T	R	Polymorphism	-
Q13351	KLF1_HUMAN	299	H	D	Polymorphism	-
Q13351	KLF1_HUMAN	5	E	K	Polymorphism	-
Q13351	KLF1_HUMAN	102	S	P	Polymorphism	-
Q13351	KLF1_HUMAN	316	C	W	Polymorphism	-
Q13351	KLF1_HUMAN	298	A	P	Unclassified	-
Q13351	KLF1_HUMAN	341	C	Y	Polymorphism	-
Q13352	CENPR_HUMAN	30	I	V	Polymorphism	-
Q13360	ZN177_HUMAN	112	T	M	Polymorphism	-
Q13360	ZN177_HUMAN	94	D	G	Polymorphism	-
Q13360	ZN177_HUMAN	455	I	F	Polymorphism	-
Q13361	MFAP5_HUMAN	21	W	L	Disease	Aortic aneurysm, familial thoracic 9 (AAT9) [MIM:616166]
Q13361	MFAP5_HUMAN	61	V	D	Unclassified	A breast cancer sample
Q13362	2A5G_HUMAN	515	A	P	Polymorphism	-
Q13363	CTBP1_HUMAN	342	R	W	Disease	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) [MIM:617915]
Q13368	MPP3_HUMAN	585	R	G	Polymorphism	-
Q13370	PDE3B_HUMAN	87	A	V	Polymorphism	-
Q13371	PHLP_HUMAN	218	K	N	Polymorphism	-
Q13387	JIP2_HUMAN	743	P	L	Polymorphism	-
Q13393	PLD1_HUMAN	820	V	M	Polymorphism	-
Q13393	PLD1_HUMAN	442	H	P	Disease	Cardiac valvular defect, developmental (CVDD) [MIM:212093]
Q13393	PLD1_HUMAN	1024	V	I	Polymorphism	-
Q13393	PLD1_HUMAN	49	P	A	Polymorphism	-
Q13393	PLD1_HUMAN	622	A	S	Polymorphism	-
Q13394	MB211_HUMAN	70	S	P	Polymorphism	-
Q13395	TARB1_HUMAN	743	N	S	Polymorphism	-
Q13395	TARB1_HUMAN	997	F	L	Polymorphism	-
Q13395	TARB1_HUMAN	1038	T	I	Polymorphism	-
Q13395	TARB1_HUMAN	513	D	G	Polymorphism	-
Q13395	TARB1_HUMAN	1359	I	V	Polymorphism	-
Q13395	TARB1_HUMAN	1461	I	V	Polymorphism	-
Q13395	TARB1_HUMAN	678	S	G	Polymorphism	-
Q13395	TARB1_HUMAN	425	A	T	Polymorphism	-
Q13395	TARB1_HUMAN	221	L	P	Polymorphism	-
Q13395	TARB1_HUMAN	864	H	P	Polymorphism	-
Q13398	ZN211_HUMAN	110	D	N	Polymorphism	-
Q13398	ZN211_HUMAN	314	A	V	Polymorphism	-
Q13402	MYO7A_HUMAN	2137	G	E	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	67	V	M	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	241	R	C	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	212	R	H	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1248	E	K	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1666	S	C	Polymorphism	-
Q13402	MYO7A_HUMAN	1954	L	I	Polymorphism	-
Q13402	MYO7A_HUMAN	158	G	R	Unclassified	-
Q13402	MYO7A_HUMAN	1719	Y	C	Polymorphism	-
Q13402	MYO7A_HUMAN	1858	L	P	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1602	R	Q	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	652	C	R	Disease	Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060]
Q13402	MYO7A_HUMAN	599	M	I	Disease	Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060]
Q13402	MYO7A_HUMAN	1992	F	I	Polymorphism	-
Q13402	MYO7A_HUMAN	26	A	E	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	968	E	D	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	205	I	V	Polymorphism	-
Q13402	MYO7A_HUMAN	16	L	S	Polymorphism	-
Q13402	MYO7A_HUMAN	212	R	C	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1873	R	W	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	946	M	R	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	25	G	R	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	679	V	I	Polymorphism	-
Q13402	MYO7A_HUMAN	853	R	C	Disease	Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317]
Q13402	MYO7A_HUMAN	1566	T	M	Polymorphism	-
Q13402	MYO7A_HUMAN	1740	G	S	Polymorphism	-
Q13402	MYO7A_HUMAN	164	K	R	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	457	A	V	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1628	A	S	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	2142	D	N	Polymorphism	-
Q13402	MYO7A_HUMAN	165	T	M	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	756	R	W	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1343	R	S	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1812	E	K	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	397	A	D	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	163	G	R	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1743	R	W	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	2187	G	D	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	134	I	N	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1327	E	K	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	198	A	T	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	214	G	R	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1883	R	Q	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	133	H	D	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	722	G	R	Disease	Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317]
Q13402	MYO7A_HUMAN	90	R	P	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	955	G	S	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1240	R	Q	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	241	R	S	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1087	L	P	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	204	T	A	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1887	P	L	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	602	E	K	Polymorphism	-
Q13402	MYO7A_HUMAN	651	L	P	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	826	A	T	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	2163	G	S	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	193	T	I	Unclassified	-
Q13402	MYO7A_HUMAN	450	E	Q	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	519	G	D	Unclassified	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1666	S	G	Polymorphism	-
Q13402	MYO7A_HUMAN	244	R	P	Disease	Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060]
Q13402	MYO7A_HUMAN	458	N	I	Disease	Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317]
Q13402	MYO7A_HUMAN	1170	E	K	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	503	P	L	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	1288	A	P	Disease	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	302	R	H	Unclassified	Usher syndrome 1B (USH1B) [MIM:276900]
Q13402	MYO7A_HUMAN	597	V	I	Polymorphism	-
Q13405	RM49_HUMAN	9	T	A	Polymorphism	-
Q13410	BT1A1_HUMAN	303	V	A	Polymorphism	-
Q13410	BT1A1_HUMAN	213	A	T	Polymorphism	-
Q13410	BT1A1_HUMAN	503	D	E	Polymorphism	-
Q13410	BT1A1_HUMAN	521	P	S	Polymorphism	-
Q13415	ORC1_HUMAN	456	K	E	Polymorphism	-
Q13415	ORC1_HUMAN	127	E	G	Disease	Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]
Q13415	ORC1_HUMAN	469	C	Y	Polymorphism	-
Q13415	ORC1_HUMAN	105	R	Q	Disease	Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]
Q13415	ORC1_HUMAN	19	R	S	Polymorphism	-
Q13415	ORC1_HUMAN	89	F	S	Disease	Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]
Q13415	ORC1_HUMAN	372	A	V	Polymorphism	-
Q13415	ORC1_HUMAN	180	Q	H	Polymorphism	-
Q13415	ORC1_HUMAN	666	R	W	Disease	Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]
Q13415	ORC1_HUMAN	190	V	M	Polymorphism	-
Q13415	ORC1_HUMAN	466	T	M	Polymorphism	-
Q13415	ORC1_HUMAN	441	R	M	Polymorphism	-
Q13415	ORC1_HUMAN	816	M	T	Polymorphism	-
Q13415	ORC1_HUMAN	720	R	Q	Disease	Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]
Q13416	ORC2_HUMAN	106	M	K	Polymorphism	-
Q13416	ORC2_HUMAN	521	R	Q	Polymorphism	-
Q13418	ILK_HUMAN	262	A	V	Unclassified	-
Q13421	MSLN_HUMAN	72	A	V	Polymorphism	-
Q13421	MSLN_HUMAN	309	R	P	Polymorphism	-
Q13421	MSLN_HUMAN	497	G	E	Polymorphism	-
Q13421	MSLN_HUMAN	601	M	V	Polymorphism	-
Q13422	IKZF1_HUMAN	162	R	Q	Disease	Immunodeficiency, common variable, 13 (CVID13) [MIM:616873]
Q13422	IKZF1_HUMAN	167	H	R	Disease	Immunodeficiency, common variable, 13 (CVID13) [MIM:616873]
Q13422	IKZF1_HUMAN	210	Y	C	Disease	Immunodeficiency, common variable, 13 (CVID13) [MIM:616873]
Q13422	IKZF1_HUMAN	162	R	L	Disease	Immunodeficiency, common variable, 13 (CVID13) [MIM:616873]
Q13422	IKZF1_HUMAN	184	R	Q	Disease	Immunodeficiency, common variable, 13 (CVID13) [MIM:616873]
Q13423	NNTM_HUMAN	357	T	A	Disease	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]
Q13423	NNTM_HUMAN	365	H	P	Disease	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]
Q13423	NNTM_HUMAN	678	G	R	Disease	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]
Q13423	NNTM_HUMAN	664	G	R	Disease	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]
Q13423	NNTM_HUMAN	977	L	P	Disease	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]
Q13423	NNTM_HUMAN	1009	N	K	Disease	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]
Q13423	NNTM_HUMAN	862	G	D	Disease	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]
Q13423	NNTM_HUMAN	1008	A	P	Disease	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]
Q13423	NNTM_HUMAN	437	P	L	Disease	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]
Q13423	NNTM_HUMAN	533	A	V	Disease	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]
Q13423	NNTM_HUMAN	193	S	N	Disease	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]
Q13424	SNTA1_HUMAN	364	L	F	Polymorphism	-
Q13424	SNTA1_HUMAN	390	A	V	Disease	Long QT syndrome 12 (LQT12) [MIM:612955]
Q13424	SNTA1_HUMAN	257	A	G	Disease	Long QT syndrome 12 (LQT12) [MIM:612955]
Q13425	SNTB2_HUMAN	376	S	R	Polymorphism	-
Q13425	SNTB2_HUMAN	424	D	E	Polymorphism	-
Q13426	XRCC4_HUMAN	247	A	S	Polymorphism	-
Q13426	XRCC4_HUMAN	43	W	R	Disease	Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541]
Q13426	XRCC4_HUMAN	240	Q	P	Polymorphism	-
Q13426	XRCC4_HUMAN	161	R	Q	Disease	Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541]
Q13426	XRCC4_HUMAN	142	E	Q	Polymorphism	-
Q13426	XRCC4_HUMAN	12	S	C	Polymorphism	-
Q13426	XRCC4_HUMAN	56	A	T	Polymorphism	-
Q13426	XRCC4_HUMAN	134	I	T	Polymorphism	-
Q13427	PPIG_HUMAN	445	D	E	Polymorphism	-
Q13427	PPIG_HUMAN	699	N	D	Polymorphism	-
Q13428	TCOF_HUMAN	1030	R	K	Unclassified	A colorectal cancer sample
Q13428	TCOF_HUMAN	887	V	A	Polymorphism	-
Q13428	TCOF_HUMAN	1431	G	A	Polymorphism	-
Q13428	TCOF_HUMAN	665	A	P	Polymorphism	-
Q13428	TCOF_HUMAN	1432	D	G	Polymorphism	-
Q13428	TCOF_HUMAN	516	P	L	Polymorphism	-
Q13428	TCOF_HUMAN	1176	P	R	Polymorphism	-
Q13428	TCOF_HUMAN	53	W	R	Disease	Treacher Collins syndrome 1 (TCS1) [MIM:154500]
Q13428	TCOF_HUMAN	1280	G	R	Polymorphism	-
Q13428	TCOF_HUMAN	221	A	P	Polymorphism	-
Q13428	TCOF_HUMAN	1390	A	V	Polymorphism	-
Q13432	U119A_HUMAN	22	G	V	Disease	Immunodeficiency 13 (IMD13) [MIM:615518]
Q13433	S39A6_HUMAN	119	E	D	Polymorphism	-
Q13438	OS9_HUMAN	305	D	N	Polymorphism	-
Q13438	OS9_HUMAN	454	S	L	Polymorphism	-
Q13438	OS9_HUMAN	398	R	W	Polymorphism	-
Q13439	GOGA4_HUMAN	2058	R	S	Polymorphism	-
Q13439	GOGA4_HUMAN	1552	N	S	Polymorphism	-
Q13439	GOGA4_HUMAN	1028	Q	K	Polymorphism	-
Q13444	ADA15_HUMAN	216	E	K	Polymorphism	-
Q13444	ADA15_HUMAN	294	P	H	Polymorphism	-
Q13444	ADA15_HUMAN	191	K	T	Polymorphism	-
Q13445	TMED1_HUMAN	102	D	N	Unclassified	A breast cancer sample
Q13454	TUSC3_HUMAN	247	M	V	Polymorphism	-
Q13454	TUSC3_HUMAN	65	I	V	Polymorphism	-
Q13461	FOXE3_HUMAN	137	G	D	Disease	Aortic aneurysm, familial thoracic 11 (AAT11) [MIM:617349]
Q13461	FOXE3_HUMAN	196	G	A	Polymorphism	-
Q13461	FOXE3_HUMAN	82	M	V	Unclassified	Anterior segment dysgenesis 2 (ASGD2) [MIM:610256]
Q13461	FOXE3_HUMAN	49	G	A	Polymorphism	-
Q13461	FOXE3_HUMAN	153	D	H	Disease	Aortic aneurysm, familial thoracic 11 (AAT11) [MIM:617349]
Q13461	FOXE3_HUMAN	90	R	L	Disease	Anterior segment dysgenesis 2 (ASGD2) [MIM:610256]
Q13461	FOXE3_HUMAN	120	R	G	Disease	Anterior segment dysgenesis 2 (ASGD2) [MIM:610256]
Q13461	FOXE3_HUMAN	300	S	G	Polymorphism	-
Q13461	FOXE3_HUMAN	117	N	K	Disease	Cataract 34, multiple types (CTRCT34) [MIM:612968]
Q13461	FOXE3_HUMAN	103	E	K	Disease	Cataract 34, multiple types (CTRCT34) [MIM:612968]
Q13464	ROCK1_HUMAN	773	T	S	Polymorphism	-
Q13464	ROCK1_HUMAN	108	S	N	Polymorphism	-
Q13464	ROCK1_HUMAN	1264	C	R	Polymorphism	-
Q13464	ROCK1_HUMAN	1112	T	P	Polymorphism	-
Q13464	ROCK1_HUMAN	1217	Q	E	Polymorphism	-
Q13464	ROCK1_HUMAN	1193	P	S	Unclassified	A lung neuroendocrine carcinoma sample
Q13464	ROCK1_HUMAN	1262	R	Q	Polymorphism	-
Q13467	FZD5_HUMAN	216	P	L	Polymorphism	-
Q13469	NFAC2_HUMAN	446	H	R	Polymorphism	-
Q13470	TNK1_HUMAN	339	R	K	Unclassified	A lung adenocarcinoma sample
Q13470	TNK1_HUMAN	278	V	I	Polymorphism	-
Q13470	TNK1_HUMAN	598	V	M	Polymorphism	-
Q13470	TNK1_HUMAN	514	T	K	Polymorphism	-
Q13470	TNK1_HUMAN	546	S	C	Polymorphism	-
Q13470	TNK1_HUMAN	539	R	C	Polymorphism	-
Q13472	TOP3A_HUMAN	459	D	N	Polymorphism	-
Q13472	TOP3A_HUMAN	773	N	D	Polymorphism	-
Q13472	TOP3A_HUMAN	176	A	V	Disease	Microcephaly, growth restriction, and increased sister chromatid exchange 2 (MGRISCE2) [MIM:618097]
Q13472	TOP3A_HUMAN	596	C	Y	Polymorphism	-
Q13472	TOP3A_HUMAN	742	D	N	Polymorphism	-
Q13472	TOP3A_HUMAN	100	M	V	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (PEOB5) [MIM:618098]
Q13474	DRP2_HUMAN	68	V	L	Polymorphism	-
Q13477	MADCA_HUMAN	300	P	H	Polymorphism	-
Q13478	IL18R_HUMAN	310	S	N	Polymorphism	-
Q13478	IL18R_HUMAN	232	N	K	Polymorphism	-
Q13478	IL18R_HUMAN	423	G	R	Polymorphism	-
Q13478	IL18R_HUMAN	210	R	H	Polymorphism	-
Q13480	GAB1_HUMAN	116	G	E	Disease	Deafness, autosomal recessive, 26 (DFNB26) [MIM:605428]
Q13480	GAB1_HUMAN	311	P	L	Polymorphism	-
Q13480	GAB1_HUMAN	83	Y	C	Unclassified	A breast cancer sample
Q13480	GAB1_HUMAN	377	T	I	Polymorphism	-
Q13480	GAB1_HUMAN	387	T	N	Unclassified	A breast cancer sample
Q13485	SMAD4_HUMAN	500	I	T	Disease	Myhre syndrome (MYHRS) [MIM:139210]
Q13485	SMAD4_HUMAN	130	P	S	Unclassified	A colorectal cancer sample
Q13485	SMAD4_HUMAN	330	E	G	Disease	Juvenile polyposis syndrome (JPS) [MIM:174900]
Q13485	SMAD4_HUMAN	500	I	V	Disease	Myhre syndrome (MYHRS) [MIM:139210]
Q13485	SMAD4_HUMAN	352	G	R	Disease	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]
Q13485	SMAD4_HUMAN	361	R	H	Unclassified	A colorectal cancer sample
Q13485	SMAD4_HUMAN	351	D	N	Unclassified	A colorectal cancer sample
Q13485	SMAD4_HUMAN	361	R	C	Disease	Juvenile polyposis syndrome (JPS) [MIM:174900]
Q13485	SMAD4_HUMAN	13	N	S	Unclassified	-
Q13485	SMAD4_HUMAN	386	G	D	Disease	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]
Q13485	SMAD4_HUMAN	352	G	R	Disease	Juvenile polyposis syndrome (JPS) [MIM:174900]
Q13485	SMAD4_HUMAN	500	I	M	Disease	Myhre syndrome (MYHRS) [MIM:139210]
Q13485	SMAD4_HUMAN	493	D	H	Unclassified	Pancreatic carcinoma
Q13487	SNPC2_HUMAN	118	L	V	Polymorphism	-
Q13488	VPP3_HUMAN	775	P	R	Disease	Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700]
Q13488	VPP3_HUMAN	517	D	N	Disease	Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700]
Q13488	VPP3_HUMAN	56	R	W	Polymorphism	-
Q13488	VPP3_HUMAN	161	P	L	Polymorphism	-
Q13488	VPP3_HUMAN	405	G	R	Disease	Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700]
Q13488	VPP3_HUMAN	444	R	L	Disease	Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700]
Q13488	VPP3_HUMAN	141	A	P	Disease	Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700]
Q13489	BIRC3_HUMAN	401	R	K	Polymorphism	-
Q13489	BIRC3_HUMAN	260	K	R	Polymorphism	-
Q13489	BIRC3_HUMAN	386	V	M	Polymorphism	-
Q13490	BIRC2_HUMAN	453	M	I	Polymorphism	-
Q13490	BIRC2_HUMAN	506	A	V	Polymorphism	-
Q13490	BIRC2_HUMAN	453	M	V	Polymorphism	-
Q13490	BIRC2_HUMAN	549	P	S	Polymorphism	-
Q13492	PICAL_HUMAN	579	Q	E	Polymorphism	-
Q13492	PICAL_HUMAN	158	T	P	Polymorphism	-
Q13492	PICAL_HUMAN	641	F	L	Polymorphism	-
Q13492	PICAL_HUMAN	578	W	C	Polymorphism	-
Q13492	PICAL_HUMAN	383	S	F	Polymorphism	-
Q13495	MAMD1_HUMAN	580	Q	R	Polymorphism	-
Q13495	MAMD1_HUMAN	662	N	S	Polymorphism	-
Q13495	MAMD1_HUMAN	359	P	S	Polymorphism	-
Q13496	MTM1_HUMAN	279	A	G	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	391	L	P	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	232	H	R	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	205	P	L	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	69	R	S	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	157	E	K	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	346	W	C	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	226	P	T	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	180	N	K	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	199	P	S	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	69	R	C	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	70	L	F	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	68	Y	D	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	364	V	G	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	317	M	R	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	69	R	P	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	374	H	D	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	230	W	C	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	225	I	T	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	397	Y	C	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	184	R	L	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	264	I	S	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	189	N	S	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	376	S	N	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	378	G	R	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	184	R	G	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	198	Y	N	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	227	V	M	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	404	E	K	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	241	R	L	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	499	W	R	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	389	A	D	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	241	R	C	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	197	T	I	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	346	W	S	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	229	S	P	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	421	R	Q	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	402	G	R	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	510	K	N	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	481	N	Y	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	49	V	F	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	411	W	C	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	87	L	P	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	402	G	A	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	202	L	S	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	179	P	S	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	378	G	E	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	402	G	V	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	444	C	Y	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	406	L	P	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	470	L	P	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	431	D	N	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	228	L	P	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	469	H	P	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	387	S	Y	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	433	D	N	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13496	MTM1_HUMAN	186	T	I	Disease	Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]
Q13501	SQSTM_HUMAN	180	S	L	Polymorphism	-
Q13501	SQSTM_HUMAN	33	A	V	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	107	R	Q	Polymorphism	-
Q13501	SQSTM_HUMAN	139	R	C	Polymorphism	-
Q13501	SQSTM_HUMAN	153	V	I	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	118	P	S	Polymorphism	-
Q13501	SQSTM_HUMAN	110	R	H	Polymorphism	-
Q13501	SQSTM_HUMAN	17	A	V	Polymorphism	-
Q13501	SQSTM_HUMAN	411	G	S	Disease	Paget disease of bone 3 (PDB3) [MIM:167250]
Q13501	SQSTM_HUMAN	411	G	S	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	107	R	W	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	319	E	K	Polymorphism	-
Q13501	SQSTM_HUMAN	278	T	I	Polymorphism	-
Q13501	SQSTM_HUMAN	308	A	V	Polymorphism	-
Q13501	SQSTM_HUMAN	129	D	N	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	404	M	T	Disease	Paget disease of bone 3 (PDB3) [MIM:167250]
Q13501	SQSTM_HUMAN	119	R	G	Polymorphism	-
Q13501	SQSTM_HUMAN	439	P	L	Polymorphism	-
Q13501	SQSTM_HUMAN	348	P	L	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	258	D	N	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	318	S	P	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	212	R	C	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	228	P	L	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	370	S	P	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	430	T	P	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	425	G	R	Disease	Paget disease of bone 3 (PDB3) [MIM:167250]
Q13501	SQSTM_HUMAN	349	S	T	Polymorphism	-
Q13501	SQSTM_HUMAN	90	V	M	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	329	D	G	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	381	A	V	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	399	S	P	Disease	Paget disease of bone 3 (PDB3) [MIM:167250]
Q13501	SQSTM_HUMAN	80	D	E	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	125	N	S	Polymorphism	-
Q13501	SQSTM_HUMAN	226	S	P	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	274	E	Q	Polymorphism	-
Q13501	SQSTM_HUMAN	387	P	L	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	108	D	Y	Polymorphism	-
Q13501	SQSTM_HUMAN	232	P	T	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	387	P	L	Disease	Paget disease of bone 3 (PDB3) [MIM:167250]
Q13501	SQSTM_HUMAN	217	R	H	Polymorphism	-
Q13501	SQSTM_HUMAN	321	R	C	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	425	G	R	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	392	P	L	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	219	G	V	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	274	E	D	Polymorphism	-
Q13501	SQSTM_HUMAN	404	M	V	Disease	Paget disease of bone 3 (PDB3) [MIM:167250]
Q13501	SQSTM_HUMAN	103	K	R	Polymorphism	-
Q13501	SQSTM_HUMAN	392	P	L	Disease	Paget disease of bone 3 (PDB3) [MIM:167250]
Q13501	SQSTM_HUMAN	16	A	V	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
Q13501	SQSTM_HUMAN	238	K	E	Polymorphism	-
Q13501	SQSTM_HUMAN	117	A	V	Polymorphism	-
Q13505	MTX1_HUMAN	63	S	T	Polymorphism	-
Q13507	TRPC3_HUMAN	762	R	H	Disease	Spinocerebellar ataxia 41 (SCA41) [MIM:616410]
Q13508	NAR3_HUMAN	334	P	S	Unclassified	-
Q13508	NAR3_HUMAN	363	S	L	Polymorphism	-
Q13509	TBB3_HUMAN	417	D	H	Disease	Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
Q13509	TBB3_HUMAN	62	R	Q	Disease	Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
Q13509	TBB3_HUMAN	205	E	K	Disease	Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039]
Q13509	TBB3_HUMAN	262	R	H	Disease	Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
Q13509	TBB3_HUMAN	380	R	C	Disease	Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
Q13509	TBB3_HUMAN	323	M	V	Disease	Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039]
Q13509	TBB3_HUMAN	417	D	N	Disease	Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
Q13509	TBB3_HUMAN	302	A	V	Disease	Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039]
Q13509	TBB3_HUMAN	178	T	M	Disease	Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039]
Q13509	TBB3_HUMAN	302	A	T	Disease	Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
Q13509	TBB3_HUMAN	410	E	K	Disease	Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
Q13509	TBB3_HUMAN	262	R	C	Disease	Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
Q13510	ASAH1_HUMAN	138	E	V	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	222	T	K	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	369	V	I	Polymorphism	-
Q13510	ASAH1_HUMAN	23	H	D	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	72	V	M	Polymorphism	-
Q13510	ASAH1_HUMAN	36	Y	C	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	97	V	G	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	42	T	M	Disease	Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950]
Q13510	ASAH1_HUMAN	124	D	E	Polymorphism	-
Q13510	ASAH1_HUMAN	182	L	V	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	254	R	G	Unclassified	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	235	G	R	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	70	A	V	Polymorphism	-
Q13510	ASAH1_HUMAN	320	N	D	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	246	V	A	Polymorphism	-
Q13510	ASAH1_HUMAN	362	P	R	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	152	K	N	Disease	Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950]
Q13510	ASAH1_HUMAN	22	Q	H	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	168	G	W	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	88	V	M	Polymorphism	-
Q13510	ASAH1_HUMAN	97	V	E	Disease	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	93	I	V	Polymorphism	-
Q13510	ASAH1_HUMAN	169	W	R	Unclassified	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	333	R	C	Unclassified	Farber lipogranulomatosis (FRBRL) [MIM:228000]
Q13510	ASAH1_HUMAN	42	T	A	Unclassified	Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950]
Q13515	BFSP2_HUMAN	287	R	W	Disease	Cataract 12, multiple types (CTRCT12) [MIM:611597]
Q13520	AQP6_HUMAN	234	V	I	Polymorphism	-
Q13522	PPR1A_HUMAN	147	G	D	Polymorphism	-
Q13522	PPR1A_HUMAN	109	E	G	Polymorphism	-
Q13523	PRP4B_HUMAN	584	I	V	Polymorphism	-
Q13523	PRP4B_HUMAN	83	I	V	Polymorphism	-
Q13523	PRP4B_HUMAN	658	F	L	Unclassified	A breast cancer sample
Q13530	SERC3_HUMAN	437	T	A	Polymorphism	-
Q13535	ATR_HUMAN	90	H	Y	Polymorphism	-
Q13535	ATR_HUMAN	1087	Y	H	Polymorphism	-
Q13535	ATR_HUMAN	297	K	N	Polymorphism	-
Q13535	ATR_HUMAN	1607	S	N	Polymorphism	-
Q13535	ATR_HUMAN	2425	R	Q	Polymorphism	-
Q13535	ATR_HUMAN	316	V	I	Polymorphism	-
Q13535	ATR_HUMAN	64	T	A	Polymorphism	-
Q13535	ATR_HUMAN	2233	S	I	Unclassified	A lung large cell carcinoma sample
Q13535	ATR_HUMAN	2438	E	K	Unclassified	A breast pleomorphic lobular carcinoma sample
Q13535	ATR_HUMAN	2002	A	G	Unclassified	A lung adenocarcinoma sample
Q13535	ATR_HUMAN	1213	S	G	Polymorphism	-
Q13535	ATR_HUMAN	2132	Y	D	Polymorphism	-
Q13535	ATR_HUMAN	2120	G	A	Polymorphism	-
Q13535	ATR_HUMAN	211	M	T	Polymorphism	-
Q13535	ATR_HUMAN	959	V	M	Polymorphism	-
Q13535	ATR_HUMAN	2144	Q	R	Disease	Cutaneous telangiectasia and cancer syndrome, familial (FCTCS) [MIM:614564]
Q13535	ATR_HUMAN	1526	I	V	Polymorphism	-
Q13535	ATR_HUMAN	2434	P	A	Polymorphism	-
Q13535	ATR_HUMAN	2537	E	Q	Unclassified	A breast infiltrating ductal carcinoma sample
Q13535	ATR_HUMAN	1488	A	P	Unclassified	A lung squamous cell carcinoma sample
Q13535	ATR_HUMAN	1612	N	S	Polymorphism	-
Q13546	RIPK1_HUMAN	234	E	K	Polymorphism	-
Q13546	RIPK1_HUMAN	64	A	V	Unclassified	A colorectal adenocarcinoma sample
Q13546	RIPK1_HUMAN	569	A	V	Polymorphism	-
Q13546	RIPK1_HUMAN	404	A	S	Polymorphism	-
Q13546	RIPK1_HUMAN	81	V	I	Unclassified	A colorectal adenocarcinoma sample
Q13546	RIPK1_HUMAN	443	A	V	Polymorphism	-
Q13546	RIPK1_HUMAN	220	A	V	Unclassified	A colorectal adenocarcinoma sample
Q13546	RIPK1_HUMAN	438	A	V	Polymorphism	-
Q13554	KCC2B_HUMAN	139	P	L	Disease	Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
Q13554	KCC2B_HUMAN	237	E	K	Disease	Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
Q13554	KCC2B_HUMAN	510	E	K	Polymorphism	-
Q13554	KCC2B_HUMAN	110	E	K	Disease	Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
Q13554	KCC2B_HUMAN	489	P	L	Unclassified	A colorectal adenocarcinoma sample
Q13554	KCC2B_HUMAN	213	P	L	Disease	Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
Q13554	KCC2B_HUMAN	284	R	S	Disease	Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
Q13554	KCC2B_HUMAN	301	K	E	Disease	Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
Q13555	KCC2G_HUMAN	292	R	P	Unclassified	-
Q13555	KCC2G_HUMAN	36	S	P	Polymorphism	-
Q13557	KCC2D_HUMAN	493	T	I	Polymorphism	-
Q13557	KCC2D_HUMAN	463	Q	E	Polymorphism	-
Q13557	KCC2D_HUMAN	167	D	E	Polymorphism	-
Q13562	NDF1_HUMAN	111	R	L	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
Q13562	NDF1_HUMAN	103	R	P	Disease	Maturity-onset diabetes of the young 6 (MODY6) [MIM:606394]
Q13562	NDF1_HUMAN	110	E	K	Unclassified	Maturity-onset diabetes of the young 6 (MODY6) [MIM:606394]
Q13562	NDF1_HUMAN	45	T	A	Polymorphism	-
Q13562	NDF1_HUMAN	242	V	I	Unclassified	-
Q13562	NDF1_HUMAN	197	P	H	Polymorphism	-
Q13563	PKD2_HUMAN	28	R	P	Polymorphism	-
Q13563	PKD2_HUMAN	511	D	V	Disease	Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
Q13563	PKD2_HUMAN	482	F	C	Polymorphism	-
Q13563	PKD2_HUMAN	384	A	P	Disease	Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
Q13563	PKD2_HUMAN	414	W	G	Disease	Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
Q13563	PKD2_HUMAN	420	R	G	Disease	Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
Q13563	PKD2_HUMAN	24	P	L	Polymorphism	-
Q13563	PKD2_HUMAN	632	C	R	Disease	Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
Q13563	PKD2_HUMAN	356	A	P	Disease	Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
Q13563	PKD2_HUMAN	190	A	T	Polymorphism	-
Q13563	PKD2_HUMAN	306	R	Q	Disease	Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
Q13563	PKD2_HUMAN	452	I	V	Polymorphism	-
Q13563	PKD2_HUMAN	322	R	W	Disease	Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
Q13563	PKD2_HUMAN	807	R	Q	Disease	Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
Q13563	PKD2_HUMAN	800	M	L	Polymorphism	-
Q13563	PKD2_HUMAN	322	R	Q	Disease	Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
Q13564	ULA1_HUMAN	101	S	F	Polymorphism	-
Q13569	TDG_HUMAN	381	G	E	Polymorphism	-
Q13569	TDG_HUMAN	367	V	M	Polymorphism	-
Q13569	TDG_HUMAN	367	V	L	Polymorphism	-
Q13569	TDG_HUMAN	199	G	S	Polymorphism	-
Q13571	LAPM5_HUMAN	226	R	K	Polymorphism	-
Q13574	DGKZ_HUMAN	712	Q	K	Polymorphism	-
Q13574	DGKZ_HUMAN	21	Q	R	Polymorphism	-
Q13574	DGKZ_HUMAN	69	G	C	Polymorphism	-
Q13576	IQGA2_HUMAN	527	D	E	Polymorphism	-
Q13576	IQGA2_HUMAN	894	T	I	Polymorphism	-
Q13576	IQGA2_HUMAN	1184	N	S	Polymorphism	-
Q13576	IQGA2_HUMAN	1052	R	I	Polymorphism	-
Q13576	IQGA2_HUMAN	532	K	E	Polymorphism	-
Q13576	IQGA2_HUMAN	1530	M	I	Polymorphism	-
Q13576	IQGA2_HUMAN	1379	R	W	Polymorphism	-
Q13576	IQGA2_HUMAN	455	V	A	Polymorphism	-
Q13576	IQGA2_HUMAN	629	L	F	Polymorphism	-
Q13576	IQGA2_HUMAN	724	I	V	Polymorphism	-
Q13576	IQGA2_HUMAN	479	P	R	Polymorphism	-
Q13576	IQGA2_HUMAN	714	R	W	Polymorphism	-
Q13576	IQGA2_HUMAN	1445	Y	C	Polymorphism	-
Q13585	MTR1L_HUMAN	606	I	V	Polymorphism	-
Q13585	MTR1L_HUMAN	532	T	A	Polymorphism	-
Q13586	STIM1_HUMAN	426	R	C	Disease	-
Q13586	STIM1_HUMAN	109	H	N	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
Q13586	STIM1_HUMAN	109	H	R	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
Q13586	STIM1_HUMAN	72	H	Q	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
Q13586	STIM1_HUMAN	538	P	S	Polymorphism	-
Q13586	STIM1_HUMAN	108	F	L	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
Q13586	STIM1_HUMAN	84	D	G	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
Q13586	STIM1_HUMAN	115	I	F	Disease	Stormorken syndrome (STRMK) [MIM:185070]
Q13586	STIM1_HUMAN	429	R	C	Disease	Immunodeficiency 10 (IMD10) [MIM:612783]
Q13586	STIM1_HUMAN	81	G	D	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
Q13586	STIM1_HUMAN	80	N	T	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
Q13586	STIM1_HUMAN	108	F	I	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
Q13586	STIM1_HUMAN	96	L	V	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
Q13586	STIM1_HUMAN	115	I	F	Disease	Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
Q13586	STIM1_HUMAN	304	R	W	Disease	Stormorken syndrome (STRMK) [MIM:185070]
Q13591	SEM5A_HUMAN	246	V	L	Polymorphism	-
Q13591	SEM5A_HUMAN	792	S	L	Polymorphism	-
Q13596	SNX1_HUMAN	115	S	Y	Polymorphism	-
Q13596	SNX1_HUMAN	466	D	N	Polymorphism	-
Q13601	KRR1_HUMAN	134	R	Q	Polymorphism	-
Q13606	OR5I1_HUMAN	76	F	S	Polymorphism	-
Q13606	OR5I1_HUMAN	306	V	I	Polymorphism	-
Q13606	OR5I1_HUMAN	6	R	G	Polymorphism	-
Q13606	OR5I1_HUMAN	50	L	S	Polymorphism	-
Q13607	OR2F1_HUMAN	137	H	R	Polymorphism	-
Q13607	OR2F1_HUMAN	122	R	C	Polymorphism	-
Q13608	PEX6_HUMAN	644	R	W	Disease	Heimler syndrome 2 (HMLR2) [MIM:616617]
Q13608	PEX6_HUMAN	572	T	I	Disease	Heimler syndrome 2 (HMLR2) [MIM:616617]
Q13608	PEX6_HUMAN	99	R	L	Unclassified	Heimler syndrome 2 (HMLR2) [MIM:616617]
Q13608	PEX6_HUMAN	860	R	W	Disease	Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]
Q13608	PEX6_HUMAN	274	P	L	Disease	Heimler syndrome 2 (HMLR2) [MIM:616617]
Q13608	PEX6_HUMAN	534	L	P	Disease	Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]
Q13608	PEX6_HUMAN	79	A	P	Polymorphism	-
Q13608	PEX6_HUMAN	924	A	S	Polymorphism	-
Q13608	PEX6_HUMAN	218	F	L	Unclassified	Heimler syndrome 2 (HMLR2) [MIM:616617]
Q13608	PEX6_HUMAN	860	R	Q	Disease	Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]
Q13608	PEX6_HUMAN	601	R	Q	Unclassified	Heimler syndrome 2 (HMLR2) [MIM:616617]
Q13608	PEX6_HUMAN	849	N	T	Disease	Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]
Q13608	PEX6_HUMAN	809	A	V	Polymorphism	-
Q13608	PEX6_HUMAN	812	R	Q	Disease	Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]
Q13608	PEX6_HUMAN	92	V	G	Unclassified	Heimler syndrome 2 (HMLR2) [MIM:616617]
Q13608	PEX6_HUMAN	413	G	V	Disease	Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]
Q13608	PEX6_HUMAN	905	C	F	Disease	Heimler syndrome 2 (HMLR2) [MIM:616617]
Q13608	PEX6_HUMAN	882	V	I	Polymorphism	-
Q13608	PEX6_HUMAN	939	P	Q	Polymorphism	-
Q13608	PEX6_HUMAN	812	R	W	Disease	Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]
Q13609	DNSL3_HUMAN	243	I	M	Polymorphism	-
Q13609	DNSL3_HUMAN	117	Y	S	Unclassified	A colorectal cancer sample
Q13609	DNSL3_HUMAN	206	R	C	Polymorphism	-
Q13609	DNSL3_HUMAN	96	N	K	Polymorphism	-
Q13609	DNSL3_HUMAN	19	L	V	Unclassified	A breast cancer sample
Q13609	DNSL3_HUMAN	82	G	R	Unclassified	A breast cancer sample
Q13610	PWP1_HUMAN	288	L	F	Polymorphism	-
Q13614	MTMR2_HUMAN	283	R	W	Disease	Charcot-Marie-Tooth disease 4B1 (CMT4B1) [MIM:601382]
Q13614	MTMR2_HUMAN	545	N	S	Polymorphism	-
Q13614	MTMR2_HUMAN	3	K	T	Polymorphism	-
Q13615	MTMR3_HUMAN	221	V	L	Unclassified	A breast cancer sample
Q13617	CUL2_HUMAN	109	N	S	Polymorphism	-
Q13618	CUL3_HUMAN	184	R	S	Polymorphism	-
Q13618	CUL3_HUMAN	459	K	R	Disease	Pseudohypoaldosteronism 2E (PHA2E) [MIM:614496]
Q13618	CUL3_HUMAN	567	V	I	Polymorphism	-
Q13618	CUL3_HUMAN	413	D	G	Disease	Pseudohypoaldosteronism 2E (PHA2E) [MIM:614496]
Q13618	CUL3_HUMAN	13	D	H	Polymorphism	-
Q13618	CUL3_HUMAN	719	H	R	Unclassified	-
Q13619	CUL4A_HUMAN	644	K	R	Polymorphism	-
Q13620	CUL4B_HUMAN	213	T	I	Unclassified	Mental retardation, X-linked, syndromic, 15 (MRXS15) [MIM:300354]
Q13620	CUL4B_HUMAN	103	L	P	Polymorphism	-
Q13620	CUL4B_HUMAN	745	V	A	Disease	Mental retardation, X-linked, syndromic, 15 (MRXS15) [MIM:300354]
Q13620	CUL4B_HUMAN	572	R	C	Disease	Mental retardation, X-linked, syndromic, 15 (MRXS15) [MIM:300354]
Q13621	S12A1_HUMAN	958	V	A	Polymorphism	-
Q13621	S12A1_HUMAN	272	V	F	Disease	Bartter syndrome 1, antenatal (BARTS1) [MIM:601678]
Q13621	S12A1_HUMAN	648	D	N	Disease	Bartter syndrome 1, antenatal (BARTS1) [MIM:601678]
Q13627	DYR1A_HUMAN	415	Y	F	Polymorphism	-
Q13627	DYR1A_HUMAN	681	Q	H	Polymorphism	-
Q13627	DYR1A_HUMAN	679	A	P	Polymorphism	-
Q13635	PTC1_HUMAN	1052	T	M	Disease	Holoprosencephaly 7 (HPE7) [MIM:610828]
Q13635	PTC1_HUMAN	751	V	G	Disease	Holoprosencephaly 7 (HPE7) [MIM:610828]
Q13635	PTC1_HUMAN	908	V	G	Disease	Holoprosencephaly 7 (HPE7) [MIM:610828]
Q13635	PTC1_HUMAN	1195	T	S	Polymorphism	-
Q13635	PTC1_HUMAN	1242	E	K	Unclassified	Squamous cell carcinoma
Q13635	PTC1_HUMAN	1282	P	L	Polymorphism	-
Q13635	PTC1_HUMAN	1114	R	W	Disease	Basal cell carcinoma (BCC) [MIM:605462]
Q13635	PTC1_HUMAN	393	A	T	Disease	Holoprosencephaly 7 (HPE7) [MIM:610828]
Q13635	PTC1_HUMAN	827	S	G	Disease	Holoprosencephaly 7 (HPE7) [MIM:610828]
Q13635	PTC1_HUMAN	1315	P	L	Polymorphism	-
Q13635	PTC1_HUMAN	230	T	P	Disease	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q13635	PTC1_HUMAN	1132	S	P	Disease	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q13635	PTC1_HUMAN	513	D	Y	Disease	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q13635	PTC1_HUMAN	829	V	M	Unclassified	Squamous cell carcinoma
Q13635	PTC1_HUMAN	376	F	S	Disease	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q13635	PTC1_HUMAN	509	G	V	Disease	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q13635	PTC1_HUMAN	443	A	G	Disease	Holoprosencephaly 7 (HPE7) [MIM:610828]
Q13635	PTC1_HUMAN	1438	E	D	Disease	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q13635	PTC1_HUMAN	1069	G	R	Disease	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q13635	PTC1_HUMAN	1132	S	Y	Disease	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q13635	PTC1_HUMAN	728	T	M	Disease	Holoprosencephaly 7 (HPE7) [MIM:610828]
Q13635	PTC1_HUMAN	1114	R	W	Disease	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q13635	PTC1_HUMAN	509	G	R	Unclassified	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q13635	PTC1_HUMAN	175	L	P	Disease	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q13639	5HT4R_HUMAN	27	S	L	Unclassified	-
Q13639	5HT4R_HUMAN	372	C	Y	Polymorphism	-
Q13642	FHL1_HUMAN	153	C	R	Disease	Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718]
Q13642	FHL1_HUMAN	150	C	Y	Unclassified	Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]
Q13642	FHL1_HUMAN	132	C	F	Disease	Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]
Q13642	FHL1_HUMAN	123	H	Q	Disease	Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]
Q13642	FHL1_HUMAN	209	C	R	Disease	Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6) [MIM:300696]
Q13642	FHL1_HUMAN	104	C	R	Unclassified	Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718]
Q13642	FHL1_HUMAN	224	C	W	Disease	Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696]
Q13642	FHL1_HUMAN	276	C	Y	Disease	Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6) [MIM:300696]
Q13642	FHL1_HUMAN	101	C	F	Unclassified	Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]
Q13642	FHL1_HUMAN	280	V	M	Disease	Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696]
Q13642	FHL1_HUMAN	123	H	Y	Disease	Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]
Q13642	FHL1_HUMAN	123	H	L	Disease	Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]
Q13642	FHL1_HUMAN	122	W	S	Disease	Scapuloperoneal myopathy, X-linked dominant (SPM) [MIM:300695]
Q13642	FHL1_HUMAN	150	C	S	Disease	Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718]
Q13642	FHL1_HUMAN	154	H	P	Disease	Scapuloperoneal myopathy, X-linked dominant (SPM) [MIM:300695]
Q13642	FHL1_HUMAN	153	C	Y	Disease	Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718]
Q13651	I10R1_HUMAN	212	R	Q	Polymorphism	-
Q13651	I10R1_HUMAN	159	S	G	Polymorphism	-
Q13651	I10R1_HUMAN	84	T	I	Disease	Inflammatory bowel disease 28 (IBD28) [MIM:613148]
Q13651	I10R1_HUMAN	351	R	G	Polymorphism	-
Q13651	I10R1_HUMAN	224	I	V	Polymorphism	-
Q13651	I10R1_HUMAN	69	W	R	Disease	Inflammatory bowel disease 28 (IBD28) [MIM:613148]
Q13651	I10R1_HUMAN	113	V	I	Polymorphism	-
Q13651	I10R1_HUMAN	353	P	S	Polymorphism	-
Q13651	I10R1_HUMAN	61	L	V	Polymorphism	-
Q13651	I10R1_HUMAN	420	S	L	Polymorphism	-
Q13651	I10R1_HUMAN	262	R	C	Disease	Inflammatory bowel disease 28 (IBD28) [MIM:613148]
Q13651	I10R1_HUMAN	117	R	H	Disease	Inflammatory bowel disease 28 (IBD28) [MIM:613148]
Q13651	I10R1_HUMAN	91	Y	C	Disease	Inflammatory bowel disease 28 (IBD28) [MIM:613148]
Q13651	I10R1_HUMAN	101	R	W	Disease	Inflammatory bowel disease 28 (IBD28) [MIM:613148]
Q13651	I10R1_HUMAN	141	G	R	Disease	Inflammatory bowel disease 28 (IBD28) [MIM:613148]
Q13683	ITA7_HUMAN	506	L	M	Polymorphism	-
Q13683	ITA7_HUMAN	457	I	V	Polymorphism	-
Q13683	ITA7_HUMAN	586	R	H	Polymorphism	-
Q13683	ITA7_HUMAN	696	A	V	Polymorphism	-
Q13683	ITA7_HUMAN	695	R	H	Polymorphism	-
Q13685	AAMP_HUMAN	250	I	V	Polymorphism	-
Q13686	ALKB1_HUMAN	324	M	L	Polymorphism	-
Q13686	ALKB1_HUMAN	135	M	I	Polymorphism	-
Q13698	CAC1S_HUMAN	1086	R	H	Disease	Malignant hyperthermia 5 (MHS5) [MIM:601887]
Q13698	CAC1S_HUMAN	528	R	H	Disease	Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]
Q13698	CAC1S_HUMAN	1658	R	H	Polymorphism	-
Q13698	CAC1S_HUMAN	69	A	G	Polymorphism	-
Q13698	CAC1S_HUMAN	1239	R	G	Disease	Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]
Q13698	CAC1S_HUMAN	1539	R	C	Polymorphism	-
Q13698	CAC1S_HUMAN	900	R	S	Disease	Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]
Q13698	CAC1S_HUMAN	528	R	G	Disease	Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]
Q13698	CAC1S_HUMAN	1239	R	H	Disease	Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]
Q13698	CAC1S_HUMAN	1840	E	D	Polymorphism	-
Q13698	CAC1S_HUMAN	1800	L	S	Polymorphism	-
Q13698	CAC1S_HUMAN	458	L	H	Polymorphism	-
Q13702	RAPSN_HUMAN	81	F	L	Polymorphism	-
Q13702	RAPSN_HUMAN	283	L	P	Disease	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326]
Q13702	RAPSN_HUMAN	189	A	V	Disease	Fetal akinesia deformation sequence 2 (FADS2) [MIM:618388]
Q13702	RAPSN_HUMAN	88	N	K	Disease	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326]
Q13702	RAPSN_HUMAN	8	Q	K	Polymorphism	-
Q13702	RAPSN_HUMAN	45	V	M	Disease	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326]
Q13702	RAPSN_HUMAN	14	L	P	Disease	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326]
Q13702	RAPSN_HUMAN	139	F	S	Disease	Fetal akinesia deformation sequence 2 (FADS2) [MIM:618388]
Q13702	RAPSN_HUMAN	164	R	C	Disease	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326]
Q13702	RAPSN_HUMAN	162	E	K	Disease	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326]
Q13705	AVR2B_HUMAN	494	V	I	Disease	Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
Q13705	AVR2B_HUMAN	459	E	D	Polymorphism	-
Q13705	AVR2B_HUMAN	40	R	H	Disease	Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
Q13705	AVR2B_HUMAN	176	P	R	Polymorphism	-
Q13724	MOGS_HUMAN	785	G	S	Polymorphism	-
Q13724	MOGS_HUMAN	652	F	L	Disease	Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056]
Q13724	MOGS_HUMAN	495	R	P	Polymorphism	-
Q13724	MOGS_HUMAN	222	G	R	Polymorphism	-
Q13724	MOGS_HUMAN	486	R	T	Disease	Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056]
Q13724	MOGS_HUMAN	293	P	S	Polymorphism	-
Q13724	MOGS_HUMAN	239	D	N	Polymorphism	-
Q13724	MOGS_HUMAN	236	E	Q	Polymorphism	-
Q13733	AT1A4_HUMAN	297	E	K	Polymorphism	-
Q13733	AT1A4_HUMAN	586	M	I	Polymorphism	-
Q13733	AT1A4_HUMAN	83	G	D	Polymorphism	-
Q13733	AT1A4_HUMAN	541	M	R	Polymorphism	-
Q13740	CD166_HUMAN	367	M	I	Polymorphism	-
Q13740	CD166_HUMAN	352	V	M	Polymorphism	-
Q13740	CD166_HUMAN	258	N	S	Polymorphism	-
Q13740	CD166_HUMAN	301	T	M	Polymorphism	-
Q13740	CD166_HUMAN	229	G	D	Polymorphism	-
Q13740	CD166_HUMAN	315	L	M	Polymorphism	-
Q13751	LAMB3_HUMAN	926	A	D	Polymorphism	-
Q13751	LAMB3_HUMAN	988	R	W	Polymorphism	-
Q13751	LAMB3_HUMAN	852	M	L	Polymorphism	-
Q13751	LAMB3_HUMAN	690	N	S	Polymorphism	-
Q13751	LAMB3_HUMAN	292	R	L	Polymorphism	-
Q13751	LAMB3_HUMAN	450	R	C	Unclassified	A colorectal cancer sample
Q13751	LAMB3_HUMAN	679	P	L	Disease	Epidermolysis bullosa, junctional, Herlitz type (H-JEB) [MIM:226700]
Q13751	LAMB3_HUMAN	207	K	Q	Disease	Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q13751	LAMB3_HUMAN	181	N	D	Polymorphism	-
Q13751	LAMB3_HUMAN	527	V	M	Polymorphism	-
Q13751	LAMB3_HUMAN	210	E	K	Disease	Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q13751	LAMB3_HUMAN	438	S	T	Polymorphism	-
Q13751	LAMB3_HUMAN	199	G	A	Disease	Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q13753	LAMC2_HUMAN	111	A	P	Polymorphism	-
Q13753	LAMC2_HUMAN	733	S	T	Polymorphism	-
Q13753	LAMC2_HUMAN	115	R	Q	Polymorphism	-
Q13753	LAMC2_HUMAN	136	D	V	Polymorphism	-
Q13753	LAMC2_HUMAN	124	T	M	Polymorphism	-
Q13753	LAMC2_HUMAN	247	D	E	Polymorphism	-
Q13753	LAMC2_HUMAN	608	S	I	Polymorphism	-
Q13769	THOC5_HUMAN	380	T	K	Unclassified	A breast cancer sample
Q13769	THOC5_HUMAN	579	V	I	Polymorphism	-
Q13769	THOC5_HUMAN	475	T	S	Polymorphism	-
Q13769	THOC5_HUMAN	499	G	S	Unclassified	A breast cancer sample
Q13769	THOC5_HUMAN	525	V	I	Polymorphism	-
Q13772	NCOA4_HUMAN	154	F	L	Polymorphism	-
Q13772	NCOA4_HUMAN	94	S	L	Polymorphism	-
Q13772	NCOA4_HUMAN	350	C	R	Polymorphism	-
Q13772	NCOA4_HUMAN	561	L	P	Polymorphism	-
Q13772	NCOA4_HUMAN	474	P	R	Polymorphism	-
Q13790	APOF_HUMAN	178	A	G	Polymorphism	-
Q13795	ARFRP_HUMAN	108	L	V	Unclassified	A breast cancer sample
Q13796	SHRM2_HUMAN	1607	L	F	Polymorphism	-
Q13796	SHRM2_HUMAN	1245	D	H	Unclassified	A breast cancer sample
Q13796	SHRM2_HUMAN	1475	I	V	Polymorphism	-
Q13796	SHRM2_HUMAN	942	D	E	Polymorphism	-
Q13797	ITA9_HUMAN	507	G	E	Polymorphism	-
Q13797	ITA9_HUMAN	750	R	C	Unclassified	A breast cancer sample
Q13813	SPTN1_HUMAN	1017	P	S	Unclassified	A breast cancer sample
Q13813	SPTN1_HUMAN	904	S	C	Unclassified	A breast cancer sample
Q13813	SPTN1_HUMAN	1918	D	N	Unclassified	A breast cancer sample
Q13813	SPTN1_HUMAN	1794	R	W	Unclassified	A breast cancer sample
Q13813	SPTN1_HUMAN	385	N	S	Polymorphism	-
Q13813	SPTN1_HUMAN	1300	I	T	Polymorphism	-
Q13822	ENPP2_HUMAN	726	S	L	Polymorphism	-
Q13822	ENPP2_HUMAN	493	S	P	Polymorphism	-
Q13822	ENPP2_HUMAN	577	N	S	Polymorphism	-
Q13823	NOG2_HUMAN	452	Q	H	Polymorphism	-
Q13825	AUHM_HUMAN	240	A	V	Disease	3-methylglutaconic aciduria 1 (MGA1) [MIM:250950]
Q13835	PKP1_HUMAN	196	I	V	Polymorphism	-
Q13835	PKP1_HUMAN	116	R	H	Polymorphism	-
Q13835	PKP1_HUMAN	161	C	Y	Polymorphism	-
Q13835	PKP1_HUMAN	463	A	V	Polymorphism	-
Q13835	PKP1_HUMAN	415	G	D	Polymorphism	-
Q13867	BLMH_HUMAN	443	I	V	Polymorphism	-
Q13868	EXOS2_HUMAN	198	G	D	Disease	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) [MIM:617763]
Q13868	EXOS2_HUMAN	30	G	V	Disease	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) [MIM:617763]
Q13873	BMPR2_HUMAN	341	V	M	Unclassified	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	420	C	R	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	347	C	Y	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	118	C	W	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	483	C	R	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	775	S	N	Polymorphism	-
Q13873	BMPR2_HUMAN	264	D	N	Unclassified	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	138	P	A	Unclassified	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	512	K	T	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	467	K	R	Unclassified	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	64	S	R	Unclassified	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	491	R	W	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	60	C	Y	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	117	C	Y	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	67	Y	C	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	491	R	Q	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	485	D	G	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	182	G	D	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	224	E	D	Polymorphism	-
Q13873	BMPR2_HUMAN	92	Q	L	Unclassified	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	87	H	Y	Unclassified	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	82	Q	H	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	162	A	P	Unclassified	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	123	C	S	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	77	I	L	Unclassified	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	519	N	K	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	863	S	N	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	248	R	G	Unclassified	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	123	C	R	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	899	R	P	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	109	Q	H	Unclassified	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13873	BMPR2_HUMAN	84	C	F	Disease	Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]
Q13882	PTK6_HUMAN	436	A	T	Polymorphism	-
Q13882	PTK6_HUMAN	16	L	F	Unclassified	-
Q13885	TBB2A_HUMAN	247	N	K	Disease	Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763]
Q13885	TBB2A_HUMAN	248	A	V	Disease	Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763]
Q13885	TBB2A_HUMAN	62	R	W	Unclassified	A colorectal cancer sample
Q13887	KLF5_HUMAN	301	P	S	Unclassified	A colorectal cancer sample
Q13888	TF2H2_HUMAN	236	V	L	Polymorphism	-
Q13888	TF2H2_HUMAN	151	I	M	Polymorphism	-
Q13895	BYST_HUMAN	103	E	K	Polymorphism	-
Q13895	BYST_HUMAN	426	P	S	Polymorphism	-
Q13901	C1D_HUMAN	127	S	P	Polymorphism	-
Q13905	RPGF1_HUMAN	1012	R	Q	Unclassified	-
Q13936	CAC1C_HUMAN	2097	V	I	Unclassified	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	391	I	L	Polymorphism	-
Q13936	CAC1C_HUMAN	860	R	G	Disease	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	456	M	I	Unclassified	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	477	E	K	Polymorphism	-
Q13936	CAC1C_HUMAN	1948	E	K	Polymorphism	-
Q13936	CAC1C_HUMAN	1868	P	L	Polymorphism	-
Q13936	CAC1C_HUMAN	817	P	S	Polymorphism	-
Q13936	CAC1C_HUMAN	490	G	R	Unclassified	Brugada syndrome 3 (BRGDA3) [MIM:611875]
Q13936	CAC1C_HUMAN	1831	G	C	Unclassified	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	37	G	R	Polymorphism	-
Q13936	CAC1C_HUMAN	28	A	T	Unclassified	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	2081	T	N	Polymorphism	-
Q13936	CAC1C_HUMAN	1972	R	C	Polymorphism	-
Q13936	CAC1C_HUMAN	858	R	H	Disease	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	1365	A	T	Polymorphism	-
Q13936	CAC1C_HUMAN	1835	T	M	Polymorphism	-
Q13936	CAC1C_HUMAN	1159	R	H	Unclassified	-
Q13936	CAC1C_HUMAN	1544	E	K	Disease	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	1186	I	V	Disease	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	1869	M	V	Polymorphism	-
Q13936	CAC1C_HUMAN	2056	R	Q	Polymorphism	-
Q13936	CAC1C_HUMAN	752	A	T	Polymorphism	-
Q13936	CAC1C_HUMAN	381	P	S	Unclassified	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	1893	K	R	Polymorphism	-
Q13936	CAC1C_HUMAN	1523	I	M	Disease	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	1800	T	I	Unclassified	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	1787	D	N	Polymorphism	-
Q13936	CAC1C_HUMAN	406	G	R	Disease	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	1953	T	M	Unclassified	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	518	R	C	Disease	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	39	A	V	Unclassified	Brugada syndrome 3 (BRGDA3) [MIM:611875]
Q13936	CAC1C_HUMAN	1186	I	T	Disease	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	2169	A	T	Polymorphism	-
Q13936	CAC1C_HUMAN	1765	A	G	Polymorphism	-
Q13936	CAC1C_HUMAN	304	I	T	Polymorphism	-
Q13936	CAC1C_HUMAN	878	S	R	Unclassified	-
Q13936	CAC1C_HUMAN	518	R	H	Disease	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	402	G	S	Disease	Timothy syndrome (TS) [MIM:601005]
Q13936	CAC1C_HUMAN	1755	V	I	Polymorphism	-
Q13936	CAC1C_HUMAN	1843	G	A	Polymorphism	-
Q13936	CAC1C_HUMAN	2174	N	S	Polymorphism	-
Q13936	CAC1C_HUMAN	84	Q	R	Polymorphism	-
Q13936	CAC1C_HUMAN	2091	A	S	Unclassified	-
Q13936	CAC1C_HUMAN	2122	A	G	Polymorphism	-
Q13936	CAC1C_HUMAN	582	A	D	Disease	Timothy syndrome (TS) [MIM:601005]
Q13938	CAYP1_HUMAN	180	R	Q	Unclassified	-
Q13938	CAYP1_HUMAN	125	R	G	Polymorphism	-
Q13939	CALI_HUMAN	75	S	N	Polymorphism	-
Q13946	PDE7A_HUMAN	76	G	E	Polymorphism	-
Q13948	CASP_HUMAN	545	I	V	Polymorphism	-
Q13948	CASP_HUMAN	609	R	C	Unclassified	A colorectal cancer sample
Q13948	CASP_HUMAN	464	A	T	Polymorphism	-
Q13948	CASP_HUMAN	490	S	G	Unclassified	A breast cancer sample
Q13950	RUNX2_HUMAN	53	Q	L	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	131	R	C	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	225	R	Q	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	197	F	S	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	205	T	R	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	190	R	Q	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	218	K	Q	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	225	R	W	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	287	D	N	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	511	G	S	Polymorphism	-
Q13950	RUNX2_HUMAN	131	R	G	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	220	T	I	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	190	R	W	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	118	S	N	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	218	K	E	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	201	I	K	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	200	T	I	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	175	M	R	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	193	R	C	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	420	T	N	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	209	Q	R	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	420	T	I	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	169	R	P	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	131	R	S	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	123	C	R	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	169	R	Q	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	136	L	P	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	193	R	Q	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	156	V	G	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	175	M	K	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	200	T	A	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	186	R	T	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	228	R	G	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	362	A	V	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	199	L	F	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	118	S	R	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	187	F	S	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	121	F	C	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	211	A	P	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	209	Q	H	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	225	R	L	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	218	K	N	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	233	K	R	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	193	R	G	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	191	S	N	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	175	M	V	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	113	L	R	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13950	RUNX2_HUMAN	156	V	D	Disease	Cleidocranial dysplasia (CLCD) [MIM:119600]
Q13951	PEBB_HUMAN	100	P	A	Unclassified	A breast cancer sample
Q13952	NFYC_HUMAN	165	Q	H	Unclassified	A breast cancer sample
Q13976	KGP1_HUMAN	666	G	A	Polymorphism	-
Q13976	KGP1_HUMAN	267	N	S	Polymorphism	-
Q13976	KGP1_HUMAN	249	I	V	Polymorphism	-
Q13976	KGP1_HUMAN	177	R	Q	Disease	Aortic aneurysm, familial thoracic 8 (AAT8) [MIM:615436]
Q13976	KGP1_HUMAN	474	Y	F	Polymorphism	-
Q14002	CEAM7_HUMAN	236	Y	H	Polymorphism	-
Q14002	CEAM7_HUMAN	263	A	V	Polymorphism	-
Q14002	CEAM7_HUMAN	120	F	I	Polymorphism	-
Q14003	KCNC3_HUMAN	420	R	H	Disease	Spinocerebellar ataxia 13 (SCA13) [MIM:605259]
Q14003	KCNC3_HUMAN	366	R	H	Unclassified	Spinocerebellar ataxia 13 (SCA13) [MIM:605259]
Q14003	KCNC3_HUMAN	41	Q	H	Polymorphism	-
Q14003	KCNC3_HUMAN	129	D	N	Unclassified	Spinocerebellar ataxia 13 (SCA13) [MIM:605259]
Q14003	KCNC3_HUMAN	645	P	R	Unclassified	Spinocerebellar ataxia 13 (SCA13) [MIM:605259]
Q14003	KCNC3_HUMAN	263	G	D	Polymorphism	-
Q14003	KCNC3_HUMAN	535	V	M	Disease	Spinocerebellar ataxia 13 (SCA13) [MIM:605259]
Q14003	KCNC3_HUMAN	63	D	G	Polymorphism	-
Q14003	KCNC3_HUMAN	448	F	L	Disease	Spinocerebellar ataxia 13 (SCA13) [MIM:605259]
Q14003	KCNC3_HUMAN	423	R	H	Disease	Spinocerebellar ataxia 13 (SCA13) [MIM:605259]
Q14003	KCNC3_HUMAN	746	D	N	Unclassified	Spinocerebellar ataxia 13 (SCA13) [MIM:605259]
Q14003	KCNC3_HUMAN	591	S	G	Unclassified	Spinocerebellar ataxia 13 (SCA13) [MIM:605259]
Q14003	KCNC3_HUMAN	643	G	S	Unclassified	Spinocerebellar ataxia 13 (SCA13) [MIM:605259]
Q14003	KCNC3_HUMAN	477	D	N	Unclassified	Spinocerebellar ataxia 13 (SCA13) [MIM:605259]
Q14004	CDK13_HUMAN	403	L	F	Polymorphism	-
Q14004	CDK13_HUMAN	717	G	R	Disease	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360]
Q14004	CDK13_HUMAN	340	S	F	Polymorphism	-
Q14004	CDK13_HUMAN	670	T	R	Polymorphism	-
Q14004	CDK13_HUMAN	714	G	R	Disease	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360]
Q14004	CDK13_HUMAN	356	P	A	Polymorphism	-
Q14004	CDK13_HUMAN	734	K	E	Disease	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360]
Q14004	CDK13_HUMAN	842	N	S	Disease	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360]
Q14004	CDK13_HUMAN	410	R	Q	Polymorphism	-
Q14004	CDK13_HUMAN	842	N	D	Disease	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360]
Q14004	CDK13_HUMAN	700	R	L	Polymorphism	-
Q14004	CDK13_HUMAN	624	S	G	Polymorphism	-
Q14004	CDK13_HUMAN	500	T	A	Polymorphism	-
Q14004	CDK13_HUMAN	103	Q	R	Unclassified	-
Q14004	CDK13_HUMAN	751	R	Q	Disease	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360]
Q14004	CDK13_HUMAN	1170	V	M	Polymorphism	-
Q14004	CDK13_HUMAN	1062	V	M	Polymorphism	-
Q14004	CDK13_HUMAN	494	T	A	Polymorphism	-
Q14005	IL16_HUMAN	434	P	S	Polymorphism	-
Q14005	IL16_HUMAN	889	R	Q	Polymorphism	-
Q14005	IL16_HUMAN	1147	N	K	Polymorphism	-
Q14005	IL16_HUMAN	1027	S	T	Polymorphism	-
Q14005	IL16_HUMAN	1176	H	R	Polymorphism	-
Q14005	IL16_HUMAN	906	S	L	Polymorphism	-
Q14008	CKAP5_HUMAN	785	Y	C	Polymorphism	-
Q14012	KCC1A_HUMAN	361	E	K	Polymorphism	-
Q14012	KCC1A_HUMAN	217	P	S	Unclassified	A metastatic melanoma sample
Q14028	CNGB1_HUMAN	100	R	H	Polymorphism	-
Q14028	CNGB1_HUMAN	479	L	I	Polymorphism	-
Q14028	CNGB1_HUMAN	993	G	V	Disease	Retinitis pigmentosa 45 (RP45) [MIM:613767]
Q14028	CNGB1_HUMAN	745	L	I	Polymorphism	-
Q14028	CNGB1_HUMAN	731	N	K	Polymorphism	-
Q14028	CNGB1_HUMAN	535	V	A	Polymorphism	-
Q14028	CNGB1_HUMAN	911	K	R	Polymorphism	-
Q14028	CNGB1_HUMAN	961	A	S	Polymorphism	-
Q14031	CO4A6_HUMAN	1162	I	V	Polymorphism	-
Q14031	CO4A6_HUMAN	455	S	A	Polymorphism	-
Q14031	CO4A6_HUMAN	1130	G	E	Unclassified	A colorectal cancer sample
Q14031	CO4A6_HUMAN	1110	N	K	Polymorphism	-
Q14031	CO4A6_HUMAN	455	S	P	Polymorphism	-
Q14031	CO4A6_HUMAN	591	G	S	Disease	Deafness, X-linked, 6 (DFNX6) [MIM:300914]
Q14031	CO4A6_HUMAN	1126	P	S	Polymorphism	-
Q14031	CO4A6_HUMAN	1362	L	P	Polymorphism	-
Q14032	BAAT_HUMAN	76	M	V	Disease	Familial hypercholanemia (FHCA) [MIM:607748]
Q14032	BAAT_HUMAN	20	R	Q	Polymorphism	-
Q14050	CO9A3_HUMAN	103	R	Q	Polymorphism	-
Q14050	CO9A3_HUMAN	296	P	L	Polymorphism	-
Q14050	CO9A3_HUMAN	94	P	S	Polymorphism	-
Q14050	CO9A3_HUMAN	435	A	E	Polymorphism	-
Q14050	CO9A3_HUMAN	402	R	Q	Polymorphism	-
Q14050	CO9A3_HUMAN	103	R	W	Polymorphism	-
Q14050	CO9A3_HUMAN	35	G	D	Disease	Multiple epiphyseal dysplasia 3 (EDM3) [MIM:600969]
Q14055	CO9A2_HUMAN	326	Q	W	Disease	Intervertebral disc disease (IDD) [MIM:603932]
Q14055	CO9A2_HUMAN	335	L	V	Polymorphism	-
Q14055	CO9A2_HUMAN	246	T	M	Polymorphism	-
Q14055	CO9A2_HUMAN	581	V	I	Polymorphism	-
Q14055	CO9A2_HUMAN	326	Q	R	Polymorphism	-
Q14088	RB33A_HUMAN	102	M	T	Polymorphism	-
Q14093	CYLC2_HUMAN	184	G	D	Polymorphism	-
Q14093	CYLC2_HUMAN	208	G	D	Polymorphism	-
Q14093	CYLC2_HUMAN	319	A	E	Polymorphism	-
Q14093	CYLC2_HUMAN	146	D	Y	Polymorphism	-
Q14093	CYLC2_HUMAN	190	K	E	Polymorphism	-
Q14094	CCNI_HUMAN	207	V	I	Polymorphism	-
Q14108	SCRB2_HUMAN	471	E	G	Polymorphism	-
Q14108	SCRB2_HUMAN	363	H	N	Disease	Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) [MIM:254900]
Q14112	NID2_HUMAN	354	P	H	Polymorphism	-
Q14112	NID2_HUMAN	760	G	V	Polymorphism	-
Q14112	NID2_HUMAN	866	R	Q	Polymorphism	-
Q14112	NID2_HUMAN	22	P	Q	Polymorphism	-
Q14112	NID2_HUMAN	775	R	Q	Polymorphism	-
Q14112	NID2_HUMAN	313	D	G	Polymorphism	-
Q14112	NID2_HUMAN	830	R	Q	Polymorphism	-
Q14112	NID2_HUMAN	726	V	M	Polymorphism	-
Q14112	NID2_HUMAN	529	P	S	Polymorphism	-
Q14112	NID2_HUMAN	453	G	D	Polymorphism	-
Q14112	NID2_HUMAN	656	S	P	Polymorphism	-
Q14112	NID2_HUMAN	1238	P	S	Unclassified	A breast cancer sample
Q14114	LRP8_HUMAN	607	Q	R	Polymorphism	-
Q14114	LRP8_HUMAN	952	R	Q	Polymorphism	-
Q14114	LRP8_HUMAN	611	I	L	Polymorphism	-
Q14114	LRP8_HUMAN	453	V	M	Polymorphism	-
Q14114	LRP8_HUMAN	466	W	C	Polymorphism	-
Q14114	LRP8_HUMAN	46	D	E	Polymorphism	-
Q14114	LRP8_HUMAN	25	Q	R	Polymorphism	-
Q14114	LRP8_HUMAN	736	R	Q	Polymorphism	-
Q14114	LRP8_HUMAN	653	S	T	Polymorphism	-
Q14117	DPYS_HUMAN	490	R	T	Disease	Dihydropyrimidinase deficiency (DPYSD) [MIM:222748]
Q14117	DPYS_HUMAN	334	Q	R	Disease	Dihydropyrimidinase deficiency (DPYSD) [MIM:222748]
Q14117	DPYS_HUMAN	68	T	R	Disease	Dihydropyrimidinase deficiency (DPYSD) [MIM:222748]
Q14117	DPYS_HUMAN	360	W	R	Disease	Dihydropyrimidinase deficiency (DPYSD) [MIM:222748]
Q14117	DPYS_HUMAN	435	G	R	Disease	Dihydropyrimidinase deficiency (DPYSD) [MIM:222748]
Q14118	DAG1_HUMAN	111	D	N	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818]
Q14118	DAG1_HUMAN	74	V	I	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818]
Q14118	DAG1_HUMAN	14	S	W	Polymorphism	-
Q14118	DAG1_HUMAN	192	T	M	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818]
Q14118	DAG1_HUMAN	669	C	F	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 (MDDGA9) [MIM:616538]
Q14123	PDE1C_HUMAN	260	A	S	Disease	Deafness, autosomal dominant, 74 (DFNA74) [MIM:618140]
Q14126	DSG2_HUMAN	507	C	Y	Disease	Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]
Q14126	DSG2_HUMAN	46	R	Q	Disease	Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]
Q14126	DSG2_HUMAN	158	V	G	Polymorphism	-
Q14126	DSG2_HUMAN	293	I	V	Polymorphism	-
Q14126	DSG2_HUMAN	773	R	K	Polymorphism	-
Q14126	DSG2_HUMAN	863	M	L	Polymorphism	-
Q14126	DSG2_HUMAN	49	R	H	Disease	Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]
Q14126	DSG2_HUMAN	89	Y	C	Polymorphism	-
Q14126	DSG2_HUMAN	812	G	C	Disease	Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]
Q14126	DSG2_HUMAN	920	V	G	Polymorphism	-
Q14126	DSG2_HUMAN	335	T	A	Disease	Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]
Q14126	DSG2_HUMAN	903	T	I	Polymorphism	-
Q14126	DSG2_HUMAN	515	V	I	Polymorphism	-
Q14126	DSG2_HUMAN	56	V	M	Polymorphism	-
Q14126	DSG2_HUMAN	713	E	K	Polymorphism	-
Q14129	DGCR6_HUMAN	117	A	V	Polymorphism	-
Q14134	TRI29_HUMAN	514	S	F	Unclassified	A breast cancer sample
Q14135	VGLL4_HUMAN	32	M	I	Polymorphism	-
Q14142	TRI14_HUMAN	219	V	M	Polymorphism	-
Q14145	KEAP1_HUMAN	522	A	V	Unclassified	A breast cancer sample
Q14145	KEAP1_HUMAN	364	G	C	Unclassified	A lung adenocarcinoma cell line
Q14145	KEAP1_HUMAN	236	D	H	Unclassified	-
Q14145	KEAP1_HUMAN	167	V	F	Unclassified	A lung adenocarcinoma patient
Q14145	KEAP1_HUMAN	23	C	Y	Unclassified	A breast cancer sample
Q14145	KEAP1_HUMAN	430	G	C	Unclassified	A lung adenocarcinoma patient
Q14145	KEAP1_HUMAN	350	G	S	Polymorphism	-
Q14145	KEAP1_HUMAN	349	D	N	Polymorphism	-
Q14145	KEAP1_HUMAN	284	Q	L	Unclassified	A lung adenocarcinoma patient
Q14145	KEAP1_HUMAN	333	G	C	Unclassified	-
Q14146	URB2_HUMAN	1400	V	M	Polymorphism	-
Q14146	URB2_HUMAN	778	V	G	Polymorphism	-
Q14147	DHX34_HUMAN	117	G	D	Polymorphism	-
Q14147	DHX34_HUMAN	17	R	W	Polymorphism	-
Q14152	EIF3A_HUMAN	993	D	E	Polymorphism	-
Q14152	EIF3A_HUMAN	386	E	K	Polymorphism	-
Q14152	EIF3A_HUMAN	694	K	N	Polymorphism	-
Q14154	DELE1_HUMAN	247	A	T	Polymorphism	-
Q14154	DELE1_HUMAN	468	R	C	Polymorphism	-
Q14154	DELE1_HUMAN	60	G	D	Polymorphism	-
Q14154	DELE1_HUMAN	95	A	T	Polymorphism	-
Q14154	DELE1_HUMAN	128	F	L	Polymorphism	-
Q14155	ARHG7_HUMAN	790	T	A	Unclassified	-
Q14156	EFR3A_HUMAN	528	Q	R	Polymorphism	-
Q14156	EFR3A_HUMAN	532	R	W	Polymorphism	-
Q14156	EFR3A_HUMAN	320	E	D	Polymorphism	-
Q14156	EFR3A_HUMAN	785	T	A	Polymorphism	-
Q14156	EFR3A_HUMAN	50	K	E	Polymorphism	-
Q14156	EFR3A_HUMAN	55	G	C	Polymorphism	-
Q14156	EFR3A_HUMAN	337	V	L	Polymorphism	-
Q14156	EFR3A_HUMAN	451	T	M	Polymorphism	-
Q14156	EFR3A_HUMAN	354	N	D	Polymorphism	-
Q14156	EFR3A_HUMAN	534	I	T	Polymorphism	-
Q14156	EFR3A_HUMAN	321	A	S	Polymorphism	-
Q14156	EFR3A_HUMAN	14	P	R	Polymorphism	-
Q14156	EFR3A_HUMAN	365	N	D	Polymorphism	-
Q14156	EFR3A_HUMAN	508	L	P	Polymorphism	-
Q14156	EFR3A_HUMAN	646	M	V	Polymorphism	-
Q14156	EFR3A_HUMAN	194	M	V	Polymorphism	-
Q14156	EFR3A_HUMAN	118	L	P	Polymorphism	-
Q14156	EFR3A_HUMAN	570	D	V	Polymorphism	-
Q14156	EFR3A_HUMAN	243	G	A	Polymorphism	-
Q14156	EFR3A_HUMAN	70	R	C	Polymorphism	-
Q14156	EFR3A_HUMAN	123	F	L	Polymorphism	-
Q14156	EFR3A_HUMAN	100	F	L	Polymorphism	-
Q14156	EFR3A_HUMAN	358	G	R	Polymorphism	-
Q14156	EFR3A_HUMAN	504	D	G	Polymorphism	-
Q14156	EFR3A_HUMAN	268	D	G	Polymorphism	-
Q14156	EFR3A_HUMAN	338	F	S	Polymorphism	-
Q14156	EFR3A_HUMAN	510	I	V	Polymorphism	-
Q14157	UBP2L_HUMAN	482	Q	H	Polymorphism	-
Q14160	SCRIB_HUMAN	454	P	S	Disease	Neural tube defects (NTD) [MIM:182940]
Q14160	SCRIB_HUMAN	1535	R	Q	Disease	Neural tube defects (NTD) [MIM:182940]
Q14160	SCRIB_HUMAN	422	P	L	Polymorphism	-
Q14161	GIT2_HUMAN	387	N	S	Polymorphism	-
Q14161	GIT2_HUMAN	338	N	S	Polymorphism	-
Q14161	GIT2_HUMAN	552	A	V	Polymorphism	-
Q14162	SREC_HUMAN	639	E	D	Polymorphism	-
Q14162	SREC_HUMAN	748	G	V	Polymorphism	-
Q14162	SREC_HUMAN	425	A	V	Polymorphism	-
Q14162	SREC_HUMAN	662	R	W	Polymorphism	-
Q14162	SREC_HUMAN	618	R	K	Polymorphism	-
Q14162	SREC_HUMAN	667	G	S	Polymorphism	-
Q14164	IKKE_HUMAN	713	P	L	Polymorphism	-
Q14164	IKKE_HUMAN	543	I	M	Polymorphism	-
Q14164	IKKE_HUMAN	602	A	V	Polymorphism	-
Q14164	IKKE_HUMAN	515	E	D	Polymorphism	-
Q14164	IKKE_HUMAN	660	G	E	Polymorphism	-
Q14164	IKKE_HUMAN	371	A	T	Polymorphism	-
Q14164	IKKE_HUMAN	483	T	M	Polymorphism	-
Q14164	IKKE_HUMAN	128	E	K	Polymorphism	-
Q14166	TTL12_HUMAN	84	R	W	Polymorphism	-
Q14166	TTL12_HUMAN	464	V	M	Polymorphism	-
Q14166	TTL12_HUMAN	95	N	S	Polymorphism	-
Q14166	TTL12_HUMAN	297	V	M	Polymorphism	-
Q14181	DPOA2_HUMAN	583	G	R	Polymorphism	-
Q14181	DPOA2_HUMAN	588	S	N	Polymorphism	-
Q14183	DOC2A_HUMAN	48	G	S	Polymorphism	-
Q14184	DOC2B_HUMAN	209	R	L	Unclassified	-
Q14185	DOCK1_HUMAN	1793	A	T	Polymorphism	-
Q14186	TFDP1_HUMAN	401	D	N	Polymorphism	-
Q14188	TFDP2_HUMAN	64	I	T	Polymorphism	-
Q14188	TFDP2_HUMAN	81	P	S	Polymorphism	-
Q14190	SIM2_HUMAN	483	L	M	Polymorphism	-
Q14191	WRN_HUMAN	324	T	A	Polymorphism	-
Q14191	WRN_HUMAN	387	M	I	Polymorphism	-
Q14191	WRN_HUMAN	172	T	P	Polymorphism	-
Q14191	WRN_HUMAN	1079	S	L	Polymorphism	-
Q14191	WRN_HUMAN	114	V	I	Polymorphism	-
Q14191	WRN_HUMAN	1074	L	F	Polymorphism	-
Q14191	WRN_HUMAN	343	E	K	Polymorphism	-
Q14191	WRN_HUMAN	711	R	W	Polymorphism	-
Q14191	WRN_HUMAN	724	Q	L	Polymorphism	-
Q14191	WRN_HUMAN	708	S	F	Polymorphism	-
Q14191	WRN_HUMAN	1269	K	E	Polymorphism	-
Q14191	WRN_HUMAN	1133	S	A	Polymorphism	-
Q14191	WRN_HUMAN	329	Q	R	Polymorphism	-
Q14191	WRN_HUMAN	533	N	S	Polymorphism	-
Q14191	WRN_HUMAN	135	K	E	Disease	Werner syndrome (WRN) [MIM:277700]
Q14191	WRN_HUMAN	125	K	N	Disease	Werner syndrome (WRN) [MIM:277700]
Q14191	WRN_HUMAN	32	K	R	Polymorphism	-
Q14191	WRN_HUMAN	834	R	C	Polymorphism	-
Q14191	WRN_HUMAN	240	N	K	Polymorphism	-
Q14191	WRN_HUMAN	383	L	W	Polymorphism	-
Q14191	WRN_HUMAN	92	G	V	Unclassified	A colorectal cancer sample
Q14191	WRN_HUMAN	383	L	F	Polymorphism	-
Q14191	WRN_HUMAN	912	I	S	Polymorphism	-
Q14191	WRN_HUMAN	1339	V	I	Polymorphism	-
Q14191	WRN_HUMAN	1367	C	R	Polymorphism	-
Q14191	WRN_HUMAN	612	S	C	Polymorphism	-
Q14191	WRN_HUMAN	1141	S	L	Polymorphism	-
Q14192	FHL2_HUMAN	167	K	M	Polymorphism	-
Q14194	DPYL1_HUMAN	461	V	I	Polymorphism	-
Q14195	DPYL3_HUMAN	442	A	S	Polymorphism	-
Q14197	ICT1_HUMAN	8	R	P	Polymorphism	-
Q14197	ICT1_HUMAN	77	L	F	Polymorphism	-
Q14197	ICT1_HUMAN	122	T	M	Polymorphism	-
Q14203	DCTN1_HUMAN	72	T	P	Disease	Perry syndrome (PERRYS) [MIM:168605]
Q14203	DCTN1_HUMAN	74	Q	P	Disease	Perry syndrome (PERRYS) [MIM:168605]
Q14203	DCTN1_HUMAN	785	R	W	Disease	Amyotrophic lateral sclerosis (ALS) [MIM:105400]
Q14203	DCTN1_HUMAN	71	G	R	Disease	Perry syndrome (PERRYS) [MIM:168605]
Q14203	DCTN1_HUMAN	1101	R	K	Disease	Amyotrophic lateral sclerosis (ALS) [MIM:105400]
Q14203	DCTN1_HUMAN	495	R	Q	Polymorphism	-
Q14203	DCTN1_HUMAN	78	Y	C	Disease	Perry syndrome (PERRYS) [MIM:168605]
Q14203	DCTN1_HUMAN	52	F	L	Disease	Perry syndrome (PERRYS) [MIM:168605]
Q14203	DCTN1_HUMAN	196	I	V	Polymorphism	-
Q14203	DCTN1_HUMAN	571	M	T	Disease	Amyotrophic lateral sclerosis (ALS) [MIM:105400]
Q14203	DCTN1_HUMAN	670	Y	F	Unclassified	-
Q14203	DCTN1_HUMAN	71	G	E	Disease	Perry syndrome (PERRYS) [MIM:168605]
Q14203	DCTN1_HUMAN	1249	T	I	Unclassified	Amyotrophic lateral sclerosis (ALS) [MIM:105400]
Q14203	DCTN1_HUMAN	59	G	S	Disease	Neuronopathy, distal hereditary motor, 7B (HMN7B) [MIM:607641]
Q14203	DCTN1_HUMAN	71	G	A	Disease	Perry syndrome (PERRYS) [MIM:168605]
Q14203	DCTN1_HUMAN	163	A	P	Polymorphism	-
Q14203	DCTN1_HUMAN	287	L	M	Polymorphism	-
Q14204	DYHC1_HUMAN	3336	K	N	Disease	Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204	DYHC1_HUMAN	142	E	A	Polymorphism	-
Q14204	DYHC1_HUMAN	94	E	K	Unclassified	-
Q14204	DYHC1_HUMAN	598	R	C	Disease	Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228]
Q14204	DYHC1_HUMAN	264	R	L	Disease	Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14204	DYHC1_HUMAN	1962	R	C	Disease	Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204	DYHC1_HUMAN	306	H	R	Disease	Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228]
Q14204	DYHC1_HUMAN	598	R	C	Disease	Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14204	DYHC1_HUMAN	671	K	E	Disease	Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14204	DYHC1_HUMAN	3384	R	Q	Disease	Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204	DYHC1_HUMAN	129	K	I	Disease	Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204	DYHC1_HUMAN	1518	E	K	Disease	Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204	DYHC1_HUMAN	4603	S	G	Polymorphism	-
Q14204	DYHC1_HUMAN	1250	V	L	Polymorphism	-
Q14204	DYHC1_HUMAN	4143	R	C	Polymorphism	-
Q14204	DYHC1_HUMAN	1132	G	E	Disease	Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14204	DYHC1_HUMAN	4421	A	T	Polymorphism	-
Q14204	DYHC1_HUMAN	2247	V	M	Polymorphism	-
Q14204	DYHC1_HUMAN	306	H	R	Disease	Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14204	DYHC1_HUMAN	3344	R	Q	Disease	Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204	DYHC1_HUMAN	4285	A	S	Polymorphism	-
Q14204	DYHC1_HUMAN	1567	R	Q	Disease	Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204	DYHC1_HUMAN	3241	K	T	Disease	Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204	DYHC1_HUMAN	1194	Q	R	Disease	Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228]
Q14204	DYHC1_HUMAN	4507	I	S	Polymorphism	-
Q14204	DYHC1_HUMAN	3822	H	P	Disease	Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204	DYHC1_HUMAN	4029	H	Q	Polymorphism	-
Q14204	DYHC1_HUMAN	584	I	L	Disease	Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14204	DYHC1_HUMAN	3048	E	K	Disease	Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228]
Q14204	DYHC1_HUMAN	776	P	L	Disease	Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14204	DYHC1_HUMAN	3902	D	N	Polymorphism	-
Q14204	DYHC1_HUMAN	970	Y	C	Disease	Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14207	NPAT_HUMAN	987	V	A	Polymorphism	-
Q14207	NPAT_HUMAN	295	I	L	Polymorphism	-
Q14207	NPAT_HUMAN	447	V	M	Polymorphism	-
Q14207	NPAT_HUMAN	621	V	I	Polymorphism	-
Q14207	NPAT_HUMAN	967	Q	E	Polymorphism	-
Q14207	NPAT_HUMAN	575	V	I	Polymorphism	-
Q14207	NPAT_HUMAN	999	N	K	Polymorphism	-
Q14207	NPAT_HUMAN	973	L	V	Polymorphism	-
Q14207	NPAT_HUMAN	1191	Q	R	Polymorphism	-
Q14207	NPAT_HUMAN	399	L	M	Polymorphism	-
Q14207	NPAT_HUMAN	483	I	L	Polymorphism	-
Q14207	NPAT_HUMAN	608	V	A	Polymorphism	-
Q14207	NPAT_HUMAN	540	L	F	Polymorphism	-
Q14209	E2F2_HUMAN	205	G	R	Polymorphism	-
Q14209	E2F2_HUMAN	226	Q	H	Polymorphism	-
Q14210	LY6D_HUMAN	10	A	T	Polymorphism	-
Q14213	IL27B_HUMAN	174	A	V	Polymorphism	-
Q14213	IL27B_HUMAN	201	V	I	Polymorphism	-
Q14232	EI2BA_HUMAN	183	V	F	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q14232	EI2BA_HUMAN	208	N	Y	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q14240	IF4A2_HUMAN	93	Q	H	Polymorphism	-
Q14240	IF4A2_HUMAN	181	V	L	Unclassified	A breast cancer sample
Q14241	ELOA1_HUMAN	516	A	V	Polymorphism	-
Q14241	ELOA1_HUMAN	145	T	M	Polymorphism	-
Q14241	ELOA1_HUMAN	324	V	I	Polymorphism	-
Q14242	SELPL_HUMAN	249	T	M	Polymorphism	-
Q14242	SELPL_HUMAN	246	P	S	Polymorphism	-
Q14242	SELPL_HUMAN	62	M	I	Polymorphism	-
Q14244	MAP7_HUMAN	558	R	W	Polymorphism	-
Q14244	MAP7_HUMAN	526	R	P	Polymorphism	-
Q14244	MAP7_HUMAN	361	V	I	Polymorphism	-
Q14246	AGRE1_HUMAN	389	T	M	Polymorphism	-
Q14246	AGRE1_HUMAN	496	K	Q	Polymorphism	-
Q14246	AGRE1_HUMAN	298	A	V	Polymorphism	-
Q14246	AGRE1_HUMAN	57	A	T	Polymorphism	-
Q14246	AGRE1_HUMAN	589	V	I	Polymorphism	-
Q14246	AGRE1_HUMAN	663	M	T	Polymorphism	-
Q14246	AGRE1_HUMAN	140	S	R	Polymorphism	-
Q14246	AGRE1_HUMAN	539	I	V	Polymorphism	-
Q14246	AGRE1_HUMAN	724	V	L	Polymorphism	-
Q14246	AGRE1_HUMAN	174	D	N	Polymorphism	-
Q14246	AGRE1_HUMAN	424	I	V	Polymorphism	-
Q14246	AGRE1_HUMAN	691	F	C	Polymorphism	-
Q14246	AGRE1_HUMAN	2	R	L	Polymorphism	-
Q14246	AGRE1_HUMAN	254	N	S	Polymorphism	-
Q14249	NUCG_HUMAN	12	S	L	Polymorphism	-
Q14254	FLOT2_HUMAN	328	A	T	Polymorphism	-
Q14258	TRI25_HUMAN	89	V	G	Polymorphism	-
Q14258	TRI25_HUMAN	358	P	L	Polymorphism	-
Q14264	ENR1_HUMAN	569	N	S	Polymorphism	-
Q14264	ENR1_HUMAN	236	Y	C	Polymorphism	-
Q14264	ENR1_HUMAN	192	C	Y	Polymorphism	-
Q14264	ENR1_HUMAN	90	T	I	Polymorphism	-
Q14264	ENR1_HUMAN	522	L	P	Polymorphism	-
Q14264	ENR1_HUMAN	481	N	S	Polymorphism	-
Q14289	FAK2_HUMAN	359	Q	E	Polymorphism	-
Q14289	FAK2_HUMAN	808	L	P	Polymorphism	-
Q14289	FAK2_HUMAN	698	R	H	Polymorphism	-
Q14289	FAK2_HUMAN	970	E	K	Polymorphism	-
Q14289	FAK2_HUMAN	838	K	T	Polymorphism	-
Q14296	FASTK_HUMAN	436	A	V	Polymorphism	-
Q14296	FASTK_HUMAN	424	V	L	Unclassified	A lung adenocarcinoma sample
Q14314	FGL2_HUMAN	53	G	E	Polymorphism	-
Q14315	FLNC_HUMAN	2133	R	H	Disease	Cardiomyopathy, familial hypertrophic 26 (CMH26) [MIM:617047]
Q14315	FLNC_HUMAN	2626	S	N	Polymorphism	-
Q14315	FLNC_HUMAN	2160	I	F	Disease	Cardiomyopathy, familial restrictive 5 (RCM5) [MIM:617047]
Q14315	FLNC_HUMAN	193	A	T	Disease	Myopathy, distal, 4 (MPD4) [MIM:614065]
Q14315	FLNC_HUMAN	2151	G	S	Unclassified	Cardiomyopathy, familial hypertrophic 26 (CMH26) [MIM:617047]
Q14315	FLNC_HUMAN	123	V	A	Disease	Cardiomyopathy, familial hypertrophic 26 (CMH26) [MIM:617047]
Q14315	FLNC_HUMAN	2430	A	V	Unclassified	Cardiomyopathy, familial hypertrophic 26 (CMH26) [MIM:617047]
Q14315	FLNC_HUMAN	290	N	K	Unclassified	Cardiomyopathy, familial hypertrophic 26 (CMH26) [MIM:617047]
Q14315	FLNC_HUMAN	2135	K	R	Polymorphism	-
Q14315	FLNC_HUMAN	1567	R	Q	Polymorphism	-
Q14315	FLNC_HUMAN	2203	R	P	Polymorphism	-
Q14315	FLNC_HUMAN	1580	D	G	Polymorphism	-
Q14315	FLNC_HUMAN	251	M	T	Disease	Myopathy, distal, 4 (MPD4) [MIM:614065]
Q14315	FLNC_HUMAN	2637	K	Q	Polymorphism	-
Q14315	FLNC_HUMAN	1599	T	A	Polymorphism	-
Q14315	FLNC_HUMAN	1624	S	L	Disease	Cardiomyopathy, familial restrictive 5 (RCM5) [MIM:617047]
Q14315	FLNC_HUMAN	1539	A	T	Disease	Cardiomyopathy, familial hypertrophic 26 (CMH26) [MIM:617047]
Q14318	FKBP8_HUMAN	87	A	V	Polymorphism	-
Q14324	MYPC2_HUMAN	1089	R	H	Polymorphism	-
Q14324	MYPC2_HUMAN	341	V	I	Polymorphism	-
Q14324	MYPC2_HUMAN	624	V	I	Polymorphism	-
Q14324	MYPC2_HUMAN	514	G	S	Polymorphism	-
Q14324	MYPC2_HUMAN	282	D	N	Polymorphism	-
Q14324	MYPC2_HUMAN	29	E	K	Polymorphism	-
Q14324	MYPC2_HUMAN	52	G	S	Polymorphism	-
Q14331	FRG1_HUMAN	19	T	A	Polymorphism	-
Q14344	GNA13_HUMAN	221	V	L	Polymorphism	-
Q14353	GAMT_HUMAN	45	W	R	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	208	R	P	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	224	A	T	Polymorphism	-
Q14353	GAMT_HUMAN	196	A	T	Polymorphism	-
Q14353	GAMT_HUMAN	68	G	C	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	156	A	D	Polymorphism	-
Q14353	GAMT_HUMAN	20	W	S	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	44	R	L	Polymorphism	-
Q14353	GAMT_HUMAN	196	A	V	Polymorphism	-
Q14353	GAMT_HUMAN	75	A	V	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	166	L	P	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	51	H	P	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	167	T	I	Polymorphism	-
Q14353	GAMT_HUMAN	78	V	E	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	135	D	N	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	209	T	M	Polymorphism	-
Q14353	GAMT_HUMAN	110	V	F	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	164	G	D	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	76	S	L	Polymorphism	-
Q14353	GAMT_HUMAN	197	L	P	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	8	P	T	Polymorphism	-
Q14353	GAMT_HUMAN	54	A	P	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	159	L	P	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	157	F	L	Polymorphism	-
Q14353	GAMT_HUMAN	147	H	Y	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	106	Q	P	Polymorphism	-
Q14353	GAMT_HUMAN	169	C	R	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	105	R	Q	Polymorphism	-
Q14353	GAMT_HUMAN	95	V	I	Polymorphism	-
Q14353	GAMT_HUMAN	146	T	R	Polymorphism	-
Q14353	GAMT_HUMAN	169	C	Y	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	27	Y	H	Polymorphism	-
Q14353	GAMT_HUMAN	50	M	L	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353	GAMT_HUMAN	71	M	V	Polymorphism	-
Q14353	GAMT_HUMAN	78	V	M	Polymorphism	-
Q14376	GALE_HUMAN	103	D	G	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	34	N	S	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	313	L	M	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	183	L	P	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	302	G	D	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	69	D	E	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	319	G	E	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	257	K	R	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	239	R	W	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	25	A	V	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	165	E	K	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	335	R	H	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	180	A	V	Polymorphism	-
Q14376	GALE_HUMAN	90	G	E	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	169	R	W	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	94	V	M	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14376	GALE_HUMAN	40	R	C	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
Q14390	GGTL2_HUMAN	70	E	G	Polymorphism	-
Q14390	GGTL2_HUMAN	75	D	N	Polymorphism	-
Q14392	LRC32_HUMAN	311	G	A	Polymorphism	-
Q14392	LRC32_HUMAN	223	L	V	Polymorphism	-
Q14393	GAS6_HUMAN	616	R	Q	Polymorphism	-
Q14393	GAS6_HUMAN	41	F	L	Polymorphism	-
Q14393	GAS6_HUMAN	612	E	K	Polymorphism	-
Q14393	GAS6_HUMAN	347	V	M	Polymorphism	-
Q14393	GAS6_HUMAN	580	S	L	Polymorphism	-
Q14393	GAS6_HUMAN	231	S	Y	Polymorphism	-
Q14393	GAS6_HUMAN	500	G	R	Polymorphism	-
Q14397	GCKR_HUMAN	77	E	G	Polymorphism	-
Q14397	GCKR_HUMAN	446	P	L	Polymorphism	-
Q14397	GCKR_HUMAN	540	R	Q	Polymorphism	-
Q14397	GCKR_HUMAN	256	G	S	Polymorphism	-
Q14406	CSHL_HUMAN	141	D	E	Polymorphism	-
Q14432	PDE3A_HUMAN	445	T	S	Disease	Hypertension and brachydactyly syndrome (HTNB) [MIM:112410]
Q14432	PDE3A_HUMAN	445	T	A	Disease	Hypertension and brachydactyly syndrome (HTNB) [MIM:112410]
Q14432	PDE3A_HUMAN	447	A	V	Disease	Hypertension and brachydactyly syndrome (HTNB) [MIM:112410]
Q14432	PDE3A_HUMAN	449	G	V	Disease	Hypertension and brachydactyly syndrome (HTNB) [MIM:112410]
Q14432	PDE3A_HUMAN	12	D	N	Polymorphism	-
Q14432	PDE3A_HUMAN	447	A	T	Disease	Hypertension and brachydactyly syndrome (HTNB) [MIM:112410]
Q14432	PDE3A_HUMAN	445	T	N	Disease	Hypertension and brachydactyly syndrome (HTNB) [MIM:112410]
Q14442	PIGH_HUMAN	103	S	P	Disease	Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17) [MIM:618010]
Q14444	CAPR1_HUMAN	616	R	H	Polymorphism	-
Q14444	CAPR1_HUMAN	263	A	D	Polymorphism	-
Q14444	CAPR1_HUMAN	588	Q	H	Polymorphism	-
Q14449	GRB14_HUMAN	507	H	Y	Polymorphism	-
Q14449	GRB14_HUMAN	90	F	I	Polymorphism	-
Q14457	BECN1_HUMAN	403	I	T	Polymorphism	-
Q14457	BECN1_HUMAN	103	A	V	Polymorphism	-
Q14494	NF2L1_HUMAN	63	D	H	Polymorphism	-
Q14498	RBM39_HUMAN	2	A	V	Polymorphism	-
Q14500	KCJ12_HUMAN	192	Q	H	Polymorphism	-
Q14500	KCJ12_HUMAN	118	R	Q	Polymorphism	-
Q14500	KCJ12_HUMAN	100	I	V	Polymorphism	-
Q14500	KCJ12_HUMAN	430	E	G	Polymorphism	-
Q14500	KCJ12_HUMAN	15	S	L	Polymorphism	-
Q14500	KCJ12_HUMAN	249	I	V	Polymorphism	-
Q14500	KCJ12_HUMAN	6	R	Q	Polymorphism	-
Q14500	KCJ12_HUMAN	156	P	L	Polymorphism	-
Q14507	EP3A_HUMAN	62	G	C	Polymorphism	-
Q14511	CASL_HUMAN	178	D	N	Polymorphism	-
Q14511	CASL_HUMAN	304	P	L	Polymorphism	-
Q14511	CASL_HUMAN	577	T	M	Polymorphism	-
Q14515	SPRL1_HUMAN	49	A	D	Polymorphism	-
Q14515	SPRL1_HUMAN	106	H	D	Polymorphism	-
Q14515	SPRL1_HUMAN	419	T	A	Polymorphism	-
Q14517	FAT1_HUMAN	1930	D	H	Unclassified	-
Q14517	FAT1_HUMAN	131	A	V	Polymorphism	-
Q14517	FAT1_HUMAN	1564	A	T	Polymorphism	-
Q14517	FAT1_HUMAN	1393	I	V	Polymorphism	-
Q14517	FAT1_HUMAN	546	P	L	Unclassified	-
Q14517	FAT1_HUMAN	3732	N	S	Polymorphism	-
Q14517	FAT1_HUMAN	3800	P	H	Polymorphism	-
Q14517	FAT1_HUMAN	1605	N	D	Polymorphism	-
Q14517	FAT1_HUMAN	4422	T	M	Unclassified	-
Q14517	FAT1_HUMAN	1330	N	S	Polymorphism	-
Q14517	FAT1_HUMAN	1147	E	D	Unclassified	-
Q14517	FAT1_HUMAN	902	R	S	Polymorphism	-
Q14520	HABP2_HUMAN	393	E	Q	Polymorphism	-
Q14520	HABP2_HUMAN	90	V	I	Polymorphism	-
Q14520	HABP2_HUMAN	534	G	E	Disease	Thyroid cancer, non-medullary, 5 (NMTC5) [MIM:616535]
Q14524	SCN5A_HUMAN	1645	T	M	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	689	R	H	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	225	R	Q	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1319	G	V	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1114	D	N	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1680	A	T	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	655	E	K	Disease	Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]
Q14524	SCN5A_HUMAN	1672	S	Y	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1712	G	S	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	986	R	Q	Polymorphism	-
Q14524	SCN5A_HUMAN	1784	E	K	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	558	H	R	Polymorphism	-
Q14524	SCN5A_HUMAN	1709	T	R	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1722	N	D	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1728	C	R	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1293	F	S	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1740	G	R	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1358	G	W	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1363	C	Y	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1406	G	R	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1502	G	S	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	447	A	G	Polymorphism	-
Q14524	SCN5A_HUMAN	439	E	K	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1777	V	M	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	543	F	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1359	K	N	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	997	A	T	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1661	G	R	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1405	V	L	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	449	T	A	Polymorphism	-
Q14524	SCN5A_HUMAN	640	P	A	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1583	R	H	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1977	Y	N	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1344	F	S	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1275	D	N	Disease	Progressive familial heart block 1A (PFHB1A) [MIM:113900]
Q14524	SCN5A_HUMAN	601	V	A	Polymorphism	-
Q14524	SCN5A_HUMAN	1761	L	F	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1705	F	S	Disease	Sudden infant death syndrome (SIDS) [MIM:272120]
Q14524	SCN5A_HUMAN	596	D	G	Polymorphism	-
Q14524	SCN5A_HUMAN	1574	E	K	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1629	R	Q	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	386	G	E	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1583	R	C	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1728	C	W	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1913	R	H	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1739	R	W	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1360	F	C	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	182	C	R	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1082	V	A	Polymorphism	-
Q14524	SCN5A_HUMAN	501	D	G	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	526	R	H	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1582	L	P	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	104	R	W	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	370	T	M	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1642	G	E	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	965	R	C	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1660	I	V	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1382	S	I	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	34	R	H	Polymorphism	-
Q14524	SCN5A_HUMAN	475	R	S	Polymorphism	-
Q14524	SCN5A_HUMAN	672	A	T	Polymorphism	-
Q14524	SCN5A_HUMAN	592	N	K	Polymorphism	-
Q14524	SCN5A_HUMAN	579	G	R	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	121	R	Q	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	386	G	R	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1604	V	M	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1790	D	G	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1346	L	I	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1763	V	M	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1644	R	C	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1626	R	H	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	638	G	D	Polymorphism	-
Q14524	SCN5A_HUMAN	683	C	G	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1766	M	L	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1527	K	R	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1644	R	C	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	376	R	C	Polymorphism	-
Q14524	SCN5A_HUMAN	1623	R	Q	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1325	N	S	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1613	Q	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	115	S	G	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1016	T	M	Polymorphism	-
Q14524	SCN5A_HUMAN	965	R	H	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1660	I	V	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1825	L	P	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1569	A	P	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1652	M	R	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1053	E	K	Disease	Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]
Q14524	SCN5A_HUMAN	656	P	L	Polymorphism	-
Q14524	SCN5A_HUMAN	397	I	T	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1040	G	R	Polymorphism	-
Q14524	SCN5A_HUMAN	396	V	A	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1709	T	M	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1644	R	H	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	70	N	K	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1275	D	N	Disease	Cardiomyopathy, dilated 1E (CMD1E) [MIM:601154]
Q14524	SCN5A_HUMAN	1897	R	W	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1103	S	Y	Polymorphism	-
Q14524	SCN5A_HUMAN	1027	R	Q	Polymorphism	-
Q14524	SCN5A_HUMAN	1253	E	G	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1249	V	D	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	409	L	V	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	568	R	H	Polymorphism	-
Q14524	SCN5A_HUMAN	1698	A	T	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1768	I	V	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1232	R	W	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	9	G	V	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	514	G	C	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	84	D	N	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	94	I	S	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	910	S	L	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	462	E	A	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1053	E	K	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1353	V	M	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	572	A	D	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1053	E	K	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1225	E	K	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1623	R	Q	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1839	D	G	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	928	L	P	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	514	G	C	Disease	Progressive familial heart block 1A (PFHB1A) [MIM:113900]
Q14524	SCN5A_HUMAN	413	A	E	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	93	F	S	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1743	G	R	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1761	L	H	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1650	L	F	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1228	Y	H	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1652	M	T	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	620	R	C	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	396	V	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	752	G	R	Disease	Progressive familial heart block 1A (PFHB1A) [MIM:113900]
Q14524	SCN5A_HUMAN	1225	E	K	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1193	R	Q	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	275	N	K	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	2004	F	V	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	752	G	R	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1193	R	Q	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	104	R	Q	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1069	T	M	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	413	A	T	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	971	R	C	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1236	K	N	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1275	D	N	Disease	Atrial standstill 1 (ATRST1) [MIM:108770]
Q14524	SCN5A_HUMAN	572	A	D	Disease	Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]
Q14524	SCN5A_HUMAN	1311	L	P	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	927	N	S	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1826	R	C	Disease	Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]
Q14524	SCN5A_HUMAN	619	L	F	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	298	G	S	Disease	Progressive familial heart block 1A (PFHB1A) [MIM:113900]
Q14524	SCN5A_HUMAN	1494	Y	N	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	109	N	K	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1901	E	Q	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1243	D	N	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1275	D	N	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1288	A	G	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	648	P	L	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1240	E	Q	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	291	N	S	Polymorphism	-
Q14524	SCN5A_HUMAN	1116	R	W	Polymorphism	-
Q14524	SCN5A_HUMAN	340	R	W	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	289	G	S	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1449	Y	C	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	220	T	I	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	30	E	G	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1231	E	K	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	247	V	L	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1458	S	Y	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1251	V	M	Polymorphism	-
Q14524	SCN5A_HUMAN	632	T	M	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1232	R	Q	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1532	V	I	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	917	L	R	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	892	F	I	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1649	A	V	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1784	E	K	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1090	P	L	Polymorphism	-
Q14524	SCN5A_HUMAN	1505	K	N	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1787	S	N	Polymorphism	-
Q14524	SCN5A_HUMAN	1271	W	C	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1723	T	N	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1767	Y	C	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1250	F	L	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	661	R	W	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	406	N	K	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	2004	F	L	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	915	C	R	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1594	F	S	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1779	T	M	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	220	T	I	Disease	Sick sinus syndrome 1 (SSS1) [MIM:608567]
Q14524	SCN5A_HUMAN	2004	F	V	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1330	A	T	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1493	K	R	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1113	A	V	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1098	V	L	Polymorphism	-
Q14524	SCN5A_HUMAN	411	V	M	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	2004	F	L	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	18	R	W	Unclassified	-
Q14524	SCN5A_HUMAN	924	V	I	Polymorphism	-
Q14524	SCN5A_HUMAN	1239	L	P	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1596	F	I	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	935	L	P	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1405	V	M	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	178	A	G	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1560	L	F	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1968	I	M	Polymorphism	-
Q14524	SCN5A_HUMAN	18	R	Q	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1351	M	R	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1107	E	K	Polymorphism	-
Q14524	SCN5A_HUMAN	681	H	P	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	647	A	D	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1764	V	F	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	278	H	D	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1140	S	T	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	997	A	S	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	18	R	Q	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1779	T	M	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1023	R	H	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1501	L	V	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1489	E	D	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	648	P	L	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	896	C	S	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	406	N	S	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1987	N	K	Disease	Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]
Q14524	SCN5A_HUMAN	481	R	W	Polymorphism	-
Q14524	SCN5A_HUMAN	1408	G	R	Disease	Sick sinus syndrome 1 (SSS1) [MIM:608567]
Q14524	SCN5A_HUMAN	735	A	V	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	52	P	S	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	619	L	F	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	367	R	H	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1743	G	E	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1958	R	Q	Unclassified	-
Q14524	SCN5A_HUMAN	1488	T	R	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	615	G	E	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	637	P	L	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	125	V	L	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	428	E	K	Disease	Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]
Q14524	SCN5A_HUMAN	1283	L	M	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	300	V	I	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1903	V	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1219	S	N	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1861	V	I	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1626	R	P	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1909	Q	R	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1991	R	Q	Polymorphism	-
Q14524	SCN5A_HUMAN	136	L	P	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1304	T	M	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1487	M	L	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	692	Q	K	Polymorphism	-
Q14524	SCN5A_HUMAN	1500	K	N	Polymorphism	-
Q14524	SCN5A_HUMAN	1344	F	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	245	Q	K	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	104	R	G	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	286	A	S	Polymorphism	-
Q14524	SCN5A_HUMAN	240	V	M	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	204	A	V	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1330	A	P	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1620	T	K	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1949	A	S	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1481	G	E	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	462	E	K	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1041	D	N	Polymorphism	-
Q14524	SCN5A_HUMAN	175	K	N	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1495	Y	S	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	320	T	N	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	2006	P	A	Unclassified	-
Q14524	SCN5A_HUMAN	369	M	K	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1710	S	L	Disease	Familial paroxysmal ventricular fibrillation 1 (VF1) [MIM:603829]
Q14524	SCN5A_HUMAN	1571	F	C	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1620	T	K	Disease	Progressive familial heart block 1A (PFHB1A) [MIM:113900]
Q14524	SCN5A_HUMAN	1792	D	N	Disease	Sick sinus syndrome 1 (SSS1) [MIM:608567]
Q14524	SCN5A_HUMAN	1084	G	S	Disease	Sudden infant death syndrome (SIDS) [MIM:272120]
Q14524	SCN5A_HUMAN	530	F	V	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	121	R	W	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1346	L	P	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1593	I	M	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	532	F	C	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	552	G	R	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	282	R	C	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	315	L	P	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1432	R	G	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	750	Q	R	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1901	E	K	Polymorphism	-
Q14524	SCN5A_HUMAN	1131	T	I	Disease	Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]
Q14524	SCN5A_HUMAN	680	R	H	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1667	V	I	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1323	V	G	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	512	T	I	Disease	Progressive familial heart block 1A (PFHB1A) [MIM:113900]
Q14524	SCN5A_HUMAN	146	V	M	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1412	L	F	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	470	N	K	Disease	Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]
Q14524	SCN5A_HUMAN	567	L	Q	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1199	Y	S	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1826	R	H	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	735	A	V	Disease	Sick sinus syndrome 1 (SSS1) [MIM:608567]
Q14524	SCN5A_HUMAN	53	R	Q	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1432	R	S	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1332	P	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1262	G	S	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	701	P	L	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1667	V	I	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	735	A	E	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	336	P	L	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1498	M	T	Unclassified	-
Q14524	SCN5A_HUMAN	461	L	V	Polymorphism	-
Q14524	SCN5A_HUMAN	851	F	L	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1486	F	L	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	294	V	M	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1333	S	Y	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	48	E	K	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1690	D	N	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1332	P	L	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1951	V	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	212	L	Q	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	161	E	Q	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	2012	R	C	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	445	H	D	Disease	Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]
Q14524	SCN5A_HUMAN	1472	N	S	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1333	S	Y	Disease	Sudden infant death syndrome (SIDS) [MIM:272120]
Q14524	SCN5A_HUMAN	404	L	Q	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1451	V	D	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	941	S	N	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1512	R	W	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	772	D	N	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1620	T	M	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	705	S	F	Polymorphism	-
Q14524	SCN5A_HUMAN	965	R	L	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	225	R	W	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	325	L	R	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1427	A	S	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	374	W	G	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	351	G	D	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	299	L	M	Polymorphism	-
Q14524	SCN5A_HUMAN	1338	L	V	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1609	S	W	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	878	R	H	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	817	K	E	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	789	V	I	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	319	G	S	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1100	A	V	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1872	K	N	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1938	E	K	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	353	T	I	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1819	D	N	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1498	M	V	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	615	G	E	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	240	V	M	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1295	E	K	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1334	I	V	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	839	L	P	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	960	Q	K	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1308	L	F	Polymorphism	-
Q14524	SCN5A_HUMAN	764	M	R	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1924	A	T	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1428	A	V	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1714	D	G	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	225	R	W	Disease	Progressive familial heart block 1A (PFHB1A) [MIM:113900]
Q14524	SCN5A_HUMAN	270	Q	K	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1521	I	K	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	639	G	R	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	618	L	F	Unclassified	-
Q14524	SCN5A_HUMAN	1448	I	T	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1409	Y	C	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1473	F	C	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	230	I	V	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1951	V	M	Disease	Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]
Q14524	SCN5A_HUMAN	654	E	K	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	848	I	F	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	95	V	I	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1079	S	Y	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	524	S	Y	Polymorphism	-
Q14524	SCN5A_HUMAN	1180	A	V	Polymorphism	-
Q14524	SCN5A_HUMAN	367	R	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	772	D	N	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1875	M	T	Polymorphism	-
Q14524	SCN5A_HUMAN	1463	N	Y	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1904	S	L	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	773	P	S	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	701	P	L	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	867	E	Q	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	731	T	I	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	43	R	Q	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	222	R	Q	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	222	R	Q	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	532	F	C	Disease	Sudden infant death syndrome (SIDS) [MIM:272120]
Q14524	SCN5A_HUMAN	1951	V	L	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1326	A	S	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1468	V	F	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1935	G	S	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	893	R	C	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	282	R	H	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	27	R	H	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	187	T	I	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	673	L	P	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	816	F	Y	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	981	C	F	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	812	L	Q	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1406	G	E	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1525	V	M	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1438	P	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1595	D	N	Disease	Progressive familial heart block 1A (PFHB1A) [MIM:113900]
Q14524	SCN5A_HUMAN	223	V	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1795	Y	H	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	893	R	H	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	901	E	K	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	572	A	S	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	535	R	Q	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1408	G	R	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	212	L	P	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	878	R	C	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	232	V	I	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	27	R	H	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1968	I	S	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1548	E	K	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1850	C	S	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	886	H	P	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	161	E	K	Disease	Progressive familial heart block 1A (PFHB1A) [MIM:113900]
Q14524	SCN5A_HUMAN	572	A	V	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1962	P	L	Polymorphism	-
Q14524	SCN5A_HUMAN	356	D	N	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1298	P	L	Disease	Sick sinus syndrome 1 (SSS1) [MIM:608567]
Q14524	SCN5A_HUMAN	1836	I	T	Polymorphism	-
Q14524	SCN5A_HUMAN	1623	R	L	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	376	R	H	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	138	M	I	Disease	Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]
Q14524	SCN5A_HUMAN	276	L	Q	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1795	Y	C	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	1432	R	S	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	161	E	K	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	814	R	Q	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1232	R	W	Disease	Progressive familial heart block 1A (PFHB1A) [MIM:113900]
Q14524	SCN5A_HUMAN	1448	I	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	185	A	V	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1419	K	E	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1420	G	R	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	573	Q	E	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	126	K	E	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1433	G	V	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1166	D	N	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	216	S	L	Unclassified	-
Q14524	SCN5A_HUMAN	34	R	C	Polymorphism	-
Q14524	SCN5A_HUMAN	1748	G	D	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1441	E	Q	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	717	P	L	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	351	G	V	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	225	R	W	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	226	A	V	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1004	C	R	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	571	S	I	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	808	R	P	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	367	R	C	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	746	E	K	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1832	Q	E	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1919	R	C	Polymorphism	-
Q14524	SCN5A_HUMAN	367	R	C	Disease	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1501	L	V	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	569	R	W	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	758	G	E	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1055	D	G	Unclassified	Brugada syndrome 1 (BRGDA1) [MIM:601144]
Q14524	SCN5A_HUMAN	1849	H	R	Disease	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14524	SCN5A_HUMAN	689	R	C	Unclassified	Long QT syndrome 3 (LQT3) [MIM:603830]
Q14526	HIC1_HUMAN	725	R	G	Polymorphism	-
Q14527	HLTF_HUMAN	819	R	H	Polymorphism	-
Q14527	HLTF_HUMAN	311	N	S	Polymorphism	-
Q14527	HLTF_HUMAN	362	E	Q	Polymorphism	-
Q14532	K1H2_HUMAN	151	E	D	Polymorphism	-
Q14532	K1H2_HUMAN	339	T	M	Polymorphism	-
Q14532	K1H2_HUMAN	171	I	T	Polymorphism	-
Q14532	K1H2_HUMAN	427	P	T	Polymorphism	-
Q14532	K1H2_HUMAN	402	N	S	Polymorphism	-
Q14532	K1H2_HUMAN	280	R	H	Polymorphism	-
Q14532	K1H2_HUMAN	428	R	C	Polymorphism	-
Q14532	K1H2_HUMAN	89	E	K	Polymorphism	-
Q14532	K1H2_HUMAN	72	Q	R	Polymorphism	-
Q14532	K1H2_HUMAN	222	S	Y	Polymorphism	-
Q14532	K1H2_HUMAN	395	T	M	Polymorphism	-
Q14533	KRT81_HUMAN	408	R	C	Disease	Monilethrix (MNLIX) [MIM:158000]
Q14533	KRT81_HUMAN	316	R	C	Polymorphism	-
Q14533	KRT81_HUMAN	402	E	K	Disease	Monilethrix (MNLIX) [MIM:158000]
Q14533	KRT81_HUMAN	413	E	K	Disease	Monilethrix (MNLIX) [MIM:158000]
Q14533	KRT81_HUMAN	52	G	R	Polymorphism	-
Q14533	KRT81_HUMAN	248	L	R	Polymorphism	-
Q14541	HNF4G_HUMAN	190	M	I	Polymorphism	-
Q14542	S29A2_HUMAN	94	P	L	Polymorphism	-
Q14542	S29A2_HUMAN	5	D	Y	Polymorphism	-
Q14542	S29A2_HUMAN	68	N	K	Polymorphism	-
Q14549	GBX1_HUMAN	194	A	T	Polymorphism	-
Q14554	PDIA5_HUMAN	391	T	M	Polymorphism	-
Q14562	DHX8_HUMAN	1069	A	G	Polymorphism	-
Q14563	SEM3A_HUMAN	131	A	T	Unclassified	A breast cancer sample
Q14563	SEM3A_HUMAN	342	M	T	Disease	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14563	SEM3A_HUMAN	447	D	G	Disease	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14563	SEM3A_HUMAN	733	R	H	Disease	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14563	SEM3A_HUMAN	400	I	V	Disease	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14563	SEM3A_HUMAN	435	V	I	Disease	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14563	SEM3A_HUMAN	82	L	R	Unclassified	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14563	SEM3A_HUMAN	66	R	W	Disease	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14563	SEM3A_HUMAN	153	N	S	Disease	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14563	SEM3A_HUMAN	396	P	S	Polymorphism	-
Q14563	SEM3A_HUMAN	688	T	A	Disease	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14563	SEM3A_HUMAN	730	R	Q	Disease	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14563	SEM3A_HUMAN	657	I	M	Disease	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14563	SEM3A_HUMAN	484	R	W	Unclassified	Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
Q14565	DMC1_HUMAN	200	M	V	Polymorphism	-
Q14565	DMC1_HUMAN	150	G	D	Polymorphism	-
Q14566	MCM6_HUMAN	806	E	K	Polymorphism	-
Q14566	MCM6_HUMAN	35	E	V	Polymorphism	-
Q14568	HS902_HUMAN	312	C	Y	Polymorphism	-
Q14568	HS902_HUMAN	235	T	A	Polymorphism	-
Q14571	ITPR2_HUMAN	2498	G	S	Disease	Anhidrosis, isolated, with normal sweat glands (ANHD) [MIM:106190]
Q14571	ITPR2_HUMAN	453	A	V	Polymorphism	-
Q14571	ITPR2_HUMAN	1898	A	V	Polymorphism	-
Q14571	ITPR2_HUMAN	1143	E	D	Polymorphism	-
Q14573	ITPR3_HUMAN	2436	L	V	Polymorphism	-
Q14573	ITPR3_HUMAN	1552	L	V	Polymorphism	-
Q14573	ITPR3_HUMAN	1850	R	Q	Polymorphism	-
Q14573	ITPR3_HUMAN	742	D	E	Polymorphism	-
Q14573	ITPR3_HUMAN	374	L	W	Polymorphism	-
Q14573	ITPR3_HUMAN	2398	E	Q	Polymorphism	-
Q14573	ITPR3_HUMAN	667	R	Q	Polymorphism	-
Q14573	ITPR3_HUMAN	1029	G	V	Polymorphism	-
Q14574	DSC3_HUMAN	180	K	Q	Polymorphism	-
Q14574	DSC3_HUMAN	239	N	S	Polymorphism	-
Q14574	DSC3_HUMAN	199	R	W	Polymorphism	-
Q14574	DSC3_HUMAN	78	S	T	Polymorphism	-
Q14574	DSC3_HUMAN	102	R	K	Polymorphism	-
Q14574	DSC3_HUMAN	28	A	D	Polymorphism	-
Q14584	ZN266_HUMAN	519	P	L	Polymorphism	-
Q14586	ZN267_HUMAN	257	M	V	Polymorphism	-
Q14586	ZN267_HUMAN	350	C	Y	Polymorphism	-
Q14587	ZN268_HUMAN	175	T	M	Polymorphism	-
Q14588	ZN234_HUMAN	16	V	I	Polymorphism	-
Q14588	ZN234_HUMAN	208	V	M	Polymorphism	-
Q14590	ZN235_HUMAN	296	H	P	Polymorphism	-
Q14593	ZN273_HUMAN	461	E	D	Polymorphism	-
Q14593	ZN273_HUMAN	454	G	E	Polymorphism	-
Q14596	NBR1_HUMAN	923	H	R	Polymorphism	-
Q14623	IHH_HUMAN	131	E	K	Disease	Brachydactyly A1 (BDA1) [MIM:112500]
Q14623	IHH_HUMAN	190	V	A	Disease	Acrocapitofemoral dysplasia (ACFD) [MIM:607778]
Q14623	IHH_HUMAN	100	D	N	Disease	Brachydactyly A1 (BDA1) [MIM:112500]
Q14623	IHH_HUMAN	100	D	E	Disease	Brachydactyly A1 (BDA1) [MIM:112500]
Q14623	IHH_HUMAN	95	E	K	Disease	Brachydactyly A1 (BDA1) [MIM:112500]
Q14623	IHH_HUMAN	46	P	L	Disease	Acrocapitofemoral dysplasia (ACFD) [MIM:607778]
Q14624	ITIH4_HUMAN	791	L	P	Polymorphism	-
Q14624	ITIH4_HUMAN	714	M	I	Polymorphism	-
Q14624	ITIH4_HUMAN	86	I	N	Polymorphism	-
Q14624	ITIH4_HUMAN	85	I	N	Polymorphism	-
Q14624	ITIH4_HUMAN	669	Q	L	Polymorphism	-
Q14624	ITIH4_HUMAN	698	P	T	Polymorphism	-
Q14626	I11RA_HUMAN	221	P	R	Disease	Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]
Q14626	I11RA_HUMAN	395	R	W	Polymorphism	-
Q14626	I11RA_HUMAN	296	R	W	Disease	Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]
Q14626	I11RA_HUMAN	245	S	C	Disease	Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]
Q14626	I11RA_HUMAN	65	P	T	Polymorphism	-
Q14627	I13R2_HUMAN	111	W	R	Polymorphism	-
Q14642	I5P1_HUMAN	45	K	R	Polymorphism	-
Q14643	ITPR1_HUMAN	2554	G	R	Disease	Gillespie syndrome (GLSP) [MIM:206700]
Q14643	ITPR1_HUMAN	1430	I	V	Polymorphism	-
Q14643	ITPR1_HUMAN	1083	P	L	Disease	Spinocerebellar ataxia 15 (SCA15) [MIM:606658]
Q14643	ITPR1_HUMAN	602	N	D	Disease	Spinocerebellar ataxia 29 (SCA29) [MIM:117360]
Q14643	ITPR1_HUMAN	1562	V	M	Disease	Spinocerebellar ataxia 29 (SCA29) [MIM:117360]
Q14643	ITPR1_HUMAN	2109	E	Q	Disease	Gillespie syndrome (GLSP) [MIM:206700]
Q14643	ITPR1_HUMAN	2601	F	L	Disease	Gillespie syndrome (GLSP) [MIM:206700]
Q14643	ITPR1_HUMAN	769	M	V	Polymorphism	-
Q14651	PLSI_HUMAN	146	I	M	Polymorphism	-
Q14651	PLSI_HUMAN	216	S	L	Polymorphism	-
Q14653	IRF3_HUMAN	427	S	T	Polymorphism	-
Q14653	IRF3_HUMAN	107	Y	F	Polymorphism	-
Q14653	IRF3_HUMAN	285	R	Q	Disease	Encephalopathy, acute, infection-induced, Herpes-specific, 7 (IIAE7) [MIM:616532]
Q14653	IRF3_HUMAN	96	R	Q	Polymorphism	-
Q14653	IRF3_HUMAN	377	E	K	Polymorphism	-
Q14654	KCJ11_HUMAN	136	R	L	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	322	E	K	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	259	H	R	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	337	I	V	Polymorphism	-
Q14654	KCJ11_HUMAN	254	P	L	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	301	R	H	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	266	P	L	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	148	I	S	Polymorphism	-
Q14654	KCJ11_HUMAN	195	R	H	Polymorphism	-
Q14654	KCJ11_HUMAN	50	R	P	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	53	G	D	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	35	F	L	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	101	A	D	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	134	G	A	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	166	C	Y	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	270	L	V	Polymorphism	-
Q14654	KCJ11_HUMAN	170	K	T	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	201	R	H	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	296	I	L	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	23	E	K	Polymorphism	-
Q14654	KCJ11_HUMAN	40	G	D	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	35	F	V	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	53	G	R	Disease	Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
Q14654	KCJ11_HUMAN	55	F	L	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	42	C	R	Disease	Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
Q14654	KCJ11_HUMAN	170	K	N	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	333	F	I	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	282	E	K	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	167	I	L	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	116	S	P	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	67	K	N	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	330	Y	C	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	201	R	C	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	355	L	P	Polymorphism	-
Q14654	KCJ11_HUMAN	18	A	G	Polymorphism	-
Q14654	KCJ11_HUMAN	59	V	M	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	201	R	L	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	91	W	R	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	385	S	C	Polymorphism	-
Q14654	KCJ11_HUMAN	34	R	H	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	147	L	P	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	46	H	Y	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	10	E	K	Polymorphism	-
Q14654	KCJ11_HUMAN	60	F	Y	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	156	G	R	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	227	E	K	Disease	Maturity-onset diabetes of the young 13 (MODY13) [MIM:616329]
Q14654	KCJ11_HUMAN	50	R	Q	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	53	G	S	Disease	Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
Q14654	KCJ11_HUMAN	182	I	V	Disease	Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
Q14654	KCJ11_HUMAN	204	D	E	Disease	Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654	KCJ11_HUMAN	64	V	L	Unclassified	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	59	V	G	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	330	Y	S	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	164	L	P	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	52	Q	R	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654	KCJ11_HUMAN	170	K	R	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14656	TM187_HUMAN	78	M	V	Polymorphism	-
Q14656	TM187_HUMAN	138	R	Q	Polymorphism	-
Q14656	TM187_HUMAN	70	S	L	Polymorphism	-
Q14657	LAGE3_HUMAN	137	F	S	Disease	Galloway-Mowat syndrome 2, X-linked (GAMOS2) [MIM:301006]
Q14657	LAGE3_HUMAN	106	V	F	Disease	Galloway-Mowat syndrome 2, X-linked (GAMOS2) [MIM:301006]
Q14667	K0100_HUMAN	1516	V	G	Polymorphism	-
Q14667	K0100_HUMAN	986	H	Q	Polymorphism	-
Q14667	K0100_HUMAN	2060	R	G	Polymorphism	-
Q14669	TRIPC_HUMAN	1840	S	L	Disease	Mental retardation, autosomal dominant 49 (MRD49) [MIM:617752]
Q14669	TRIPC_HUMAN	5	P	L	Unclassified	Mental retardation, autosomal dominant 49 (MRD49) [MIM:617752]
Q14669	TRIPC_HUMAN	1557	D	H	Disease	Mental retardation, autosomal dominant 49 (MRD49) [MIM:617752]
Q14669	TRIPC_HUMAN	761	A	V	Disease	Mental retardation, autosomal dominant 49 (MRD49) [MIM:617752]
Q14669	TRIPC_HUMAN	1595	R	Q	Disease	Mental retardation, autosomal dominant 49 (MRD49) [MIM:617752]
Q14671	PUM1_HUMAN	1145	R	W	Disease	Spinocerebellar ataxia 47 (SCA47) [MIM:617931]
Q14671	PUM1_HUMAN	1137	R	W	Disease	Spinocerebellar ataxia 47 (SCA47) [MIM:617931]
Q14671	PUM1_HUMAN	1033	T	S	Disease	Spinocerebellar ataxia 47 (SCA47) [MIM:617931]
Q14674	ESPL1_HUMAN	1237	Q	H	Polymorphism	-
Q14674	ESPL1_HUMAN	699	R	Q	Polymorphism	-
Q14674	ESPL1_HUMAN	614	S	R	Polymorphism	-
Q14674	ESPL1_HUMAN	1435	K	M	Polymorphism	-
Q14674	ESPL1_HUMAN	1136	I	V	Polymorphism	-
Q14674	ESPL1_HUMAN	1157	T	A	Polymorphism	-
Q14676	MDC1_HUMAN	1540	S	P	Polymorphism	-
Q14676	MDC1_HUMAN	1883	R	Q	Polymorphism	-
Q14676	MDC1_HUMAN	1100	P	A	Polymorphism	-
Q14676	MDC1_HUMAN	536	I	M	Polymorphism	-
Q14676	MDC1_HUMAN	371	E	K	Polymorphism	-
Q14676	MDC1_HUMAN	1545	Q	R	Polymorphism	-
Q14676	MDC1_HUMAN	917	R	S	Polymorphism	-
Q14676	MDC1_HUMAN	1855	D	E	Polymorphism	-
Q14676	MDC1_HUMAN	1509	E	D	Polymorphism	-
Q14676	MDC1_HUMAN	179	R	C	Polymorphism	-
Q14676	MDC1_HUMAN	268	R	K	Polymorphism	-
Q14676	MDC1_HUMAN	1904	R	Q	Polymorphism	-
Q14676	MDC1_HUMAN	1180	S	P	Polymorphism	-
Q14676	MDC1_HUMAN	586	S	A	Polymorphism	-
Q14676	MDC1_HUMAN	1745	P	R	Polymorphism	-
Q14676	MDC1_HUMAN	251	E	K	Polymorphism	-
Q14676	MDC1_HUMAN	1112	S	F	Polymorphism	-
Q14676	MDC1_HUMAN	386	P	L	Polymorphism	-
Q14676	MDC1_HUMAN	1791	V	E	Polymorphism	-
Q14678	KANK1_HUMAN	464	S	A	Polymorphism	-
Q14678	KANK1_HUMAN	454	E	K	Unclassified	-
Q14678	KANK1_HUMAN	432	E	Q	Polymorphism	-
Q14678	KANK1_HUMAN	664	A	V	Polymorphism	-
Q14678	KANK1_HUMAN	210	H	Q	Polymorphism	-
Q14678	KANK1_HUMAN	1055	I	T	Polymorphism	-
Q14678	KANK1_HUMAN	321	K	R	Polymorphism	-
Q14678	KANK1_HUMAN	901	N	S	Polymorphism	-
Q14678	KANK1_HUMAN	667	R	H	Polymorphism	-
Q14678	KANK1_HUMAN	206	N	K	Polymorphism	-
Q14679	TTLL4_HUMAN	34	E	Q	Polymorphism	-
Q14679	TTLL4_HUMAN	418	R	H	Polymorphism	-
Q14679	TTLL4_HUMAN	17	N	S	Polymorphism	-
Q14679	TTLL4_HUMAN	1138	T	I	Polymorphism	-
Q14679	TTLL4_HUMAN	364	L	P	Polymorphism	-
Q14679	TTLL4_HUMAN	524	S	G	Polymorphism	-
Q14679	TTLL4_HUMAN	852	A	S	Polymorphism	-
Q14679	TTLL4_HUMAN	518	G	S	Polymorphism	-
Q14680	MELK_HUMAN	333	R	K	Polymorphism	-
Q14680	MELK_HUMAN	219	K	R	Polymorphism	-
Q14680	MELK_HUMAN	56	T	M	Polymorphism	-
Q14680	MELK_HUMAN	348	T	I	Polymorphism	-
Q14680	MELK_HUMAN	460	T	M	Unclassified	An ovarian mucinous carcinoma sample
Q14683	SMC1A_HUMAN	493	E	A	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	141	E	K	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	196	R	H	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	781	C	F	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	693	R	Q	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	784	I	T	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	1049	R	Q	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	711	R	W	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	651	V	M	Unclassified	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	1166	N	T	Unclassified	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	496	R	C	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	1122	F	L	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	1189	L	F	Unclassified	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	1123	R	W	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	790	R	Q	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	28	T	P	Polymorphism	-
Q14683	SMC1A_HUMAN	693	R	G	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	496	R	H	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	816	R	G	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	1085	Y	C	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	398	R	Q	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	398	R	G	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	133	F	V	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14683	SMC1A_HUMAN	711	R	Q	Disease	Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
Q14684	RRP1B_HUMAN	436	L	P	Polymorphism	-
Q14686	NCOA6_HUMAN	1191	S	R	Unclassified	A breast cancer sample
Q14686	NCOA6_HUMAN	955	N	S	Polymorphism	-
Q14686	NCOA6_HUMAN	1995	I	V	Polymorphism	-
Q14686	NCOA6_HUMAN	512	P	L	Polymorphism	-
Q14686	NCOA6_HUMAN	1060	P	S	Unclassified	A breast cancer sample
Q14687	GSE1_HUMAN	627	R	W	Unclassified	A colorectal cancer sample
Q14687	GSE1_HUMAN	1153	R	Q	Polymorphism	-
Q14687	GSE1_HUMAN	936	V	A	Polymorphism	-
Q14689	DIP2A_HUMAN	372	S	N	Polymorphism	-
Q14689	DIP2A_HUMAN	191	P	A	Polymorphism	-
Q14690	RRP5_HUMAN	45	K	E	Polymorphism	-
Q14690	RRP5_HUMAN	780	A	S	Polymorphism	-
Q14690	RRP5_HUMAN	1453	P	S	Polymorphism	-
Q14690	RRP5_HUMAN	1216	L	F	Polymorphism	-
Q14690	RRP5_HUMAN	623	A	S	Polymorphism	-
Q14690	RRP5_HUMAN	397	S	N	Polymorphism	-
Q14690	RRP5_HUMAN	1871	D	A	Polymorphism	-
Q14691	PSF1_HUMAN	152	C	Y	Disease	Immunodeficiency 55 (IMD55) [MIM:617827]
Q14691	PSF1_HUMAN	97	V	I	Polymorphism	-
Q14691	PSF1_HUMAN	83	R	C	Disease	Immunodeficiency 55 (IMD55) [MIM:617827]
Q14692	BMS1_HUMAN	884	M	V	Polymorphism	-
Q14692	BMS1_HUMAN	237	R	H	Polymorphism	-
Q14692	BMS1_HUMAN	1141	V	I	Polymorphism	-
Q14692	BMS1_HUMAN	930	R	H	Disease	Aplasia cutis congenita, non-syndromic (ACC) [MIM:107600]
Q14692	BMS1_HUMAN	552	S	P	Polymorphism	-
Q14692	BMS1_HUMAN	652	K	R	Polymorphism	-
Q14693	LPIN1_HUMAN	56	G	E	Unclassified	A colorectal cancer sample
Q14693	LPIN1_HUMAN	610	P	S	Polymorphism	-
Q14693	LPIN1_HUMAN	637	S	T	Polymorphism	-
Q14694	UBP10_HUMAN	203	S	P	Polymorphism	-
Q14694	UBP10_HUMAN	204	V	L	Polymorphism	-
Q14694	UBP10_HUMAN	200	M	V	Polymorphism	-
Q14695	K0087_HUMAN	85	S	N	Polymorphism	-
Q14697	GANAB_HUMAN	173	R	Q	Polymorphism	-
Q14697	GANAB_HUMAN	850	H	Y	Polymorphism	-
Q14697	GANAB_HUMAN	817	R	W	Disease	Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666]
Q14697	GANAB_HUMAN	309	R	C	Polymorphism	-
Q14697	GANAB_HUMAN	400	R	L	Disease	Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666]
Q14697	GANAB_HUMAN	232	T	A	Polymorphism	-
Q14697	GANAB_HUMAN	95	Q	R	Polymorphism	-
Q14697	GANAB_HUMAN	383	T	R	Disease	Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666]
Q14697	GANAB_HUMAN	154	R	W	Polymorphism	-
Q14697	GANAB_HUMAN	785	H	N	Unclassified	-
Q14699	RFTN1_HUMAN	421	V	I	Polymorphism	-
Q14699	RFTN1_HUMAN	248	E	K	Polymorphism	-
Q14703	MBTP1_HUMAN	6	I	T	Polymorphism	-
Q14703	MBTP1_HUMAN	90	R	G	Polymorphism	-
Q14714	SSPN_HUMAN	186	S	N	Polymorphism	-
Q14714	SSPN_HUMAN	228	V	I	Polymorphism	-
Q14721	KCNB1_HUMAN	616	T	N	Polymorphism	-
Q14721	KCNB1_HUMAN	374	T	I	Disease	Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056]
Q14721	KCNB1_HUMAN	857	S	N	Polymorphism	-
Q14721	KCNB1_HUMAN	379	G	R	Disease	Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056]
Q14721	KCNB1_HUMAN	401	G	R	Disease	Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056]
Q14721	KCNB1_HUMAN	347	S	R	Disease	Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056]
Q14721	KCNB1_HUMAN	306	R	C	Disease	Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056]
Q14721	KCNB1_HUMAN	378	V	A	Disease	Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056]
Q14721	KCNB1_HUMAN	825	P	S	Polymorphism	-
Q14721	KCNB1_HUMAN	616	T	S	Polymorphism	-
Q14738	2A5D_HUMAN	200	E	K	Disease	Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355]
Q14738	2A5D_HUMAN	53	P	S	Polymorphism	-
Q14738	2A5D_HUMAN	201	P	R	Disease	Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355]
Q14738	2A5D_HUMAN	198	E	K	Disease	Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355]
Q14738	2A5D_HUMAN	207	W	R	Disease	Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355]
Q14739	LBR_HUMAN	569	P	R	Disease	Pelger-Huet anomaly (PHA) [MIM:169400]
Q14739	LBR_HUMAN	586	R	H	Unclassified	Pelger-Huet anomaly with mild skeletal anomalies (PHASK) [MIM:618019]
Q14739	LBR_HUMAN	311	T	A	Polymorphism	-
Q14739	LBR_HUMAN	547	N	D	Disease	Greenberg dysplasia (GRBGD) [MIM:215140]
Q14739	LBR_HUMAN	154	S	N	Polymorphism	-
Q14739	LBR_HUMAN	119	P	L	Disease	Pelger-Huet anomaly (PHA) [MIM:169400]
Q14739	LBR_HUMAN	547	N	S	Unclassified	Pelger-Huet anomaly with mild skeletal anomalies (PHASK) [MIM:618019]
Q14739	LBR_HUMAN	583	R	Q	Disease	Greenberg dysplasia (GRBGD) [MIM:215140]
Q14739	LBR_HUMAN	372	R	C	Disease	Reynolds syndrome (REYNS) [MIM:613471]
Q14739	LBR_HUMAN	169	R	C	Polymorphism	-
Q14746	COG2_HUMAN	589	V	I	Polymorphism	-
Q14746	COG2_HUMAN	288	R	H	Polymorphism	-
Q14746	COG2_HUMAN	634	W	G	Disease	Congenital disorder of glycosylation 2Q (CDG2Q) [MIM:617395]
Q14746	COG2_HUMAN	304	N	K	Polymorphism	-
Q14749	GNMT_HUMAN	50	L	P	Disease	Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]
Q14749	GNMT_HUMAN	177	H	N	Disease	Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]
Q14749	GNMT_HUMAN	141	N	S	Disease	Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]
Q14761	PTCA_HUMAN	128	G	E	Polymorphism	-
Q14764	MVP_HUMAN	87	D	E	Polymorphism	-
Q14764	MVP_HUMAN	651	R	Q	Polymorphism	-
Q14764	MVP_HUMAN	635	V	I	Polymorphism	-
Q14765	STAT4_HUMAN	584	R	W	Polymorphism	-
Q14765	STAT4_HUMAN	115	I	V	Polymorphism	-
Q14765	STAT4_HUMAN	112	E	Q	Unclassified	A breast cancer sample
Q14767	LTBP2_HUMAN	1177	V	M	Disease	Weill-Marchesani syndrome 3 (WMS3) [MIM:614819]
Q14767	LTBP2_HUMAN	37	R	M	Polymorphism	-
Q14767	LTBP2_HUMAN	591	P	S	Polymorphism	-
Q14767	LTBP2_HUMAN	319	P	Q	Polymorphism	-
Q14773	ICAM4_HUMAN	100	Q	R	Polymorphism	-
Q14773	ICAM4_HUMAN	208	V	L	Polymorphism	-
Q14774	HLX_HUMAN	116	S	P	Polymorphism	-
Q14774	HLX_HUMAN	387	A	G	Polymorphism	-
Q14774	HLX_HUMAN	356	P	L	Polymorphism	-
Q14781	CBX2_HUMAN	98	P	L	Disease	46,XY sex reversal 5 (SRXY5) [MIM:613080]
Q14781	CBX2_HUMAN	443	R	P	Disease	46,XY sex reversal 5 (SRXY5) [MIM:613080]
Q14789	GOGB1_HUMAN	1765	G	D	Polymorphism	-
Q14789	GOGB1_HUMAN	1212	Y	C	Polymorphism	-
Q14789	GOGB1_HUMAN	944	A	G	Unclassified	A breast cancer sample
Q14789	GOGB1_HUMAN	348	Q	H	Unclassified	A breast cancer sample
Q14789	GOGB1_HUMAN	1713	C	F	Polymorphism	-
Q14789	GOGB1_HUMAN	1249	P	S	Polymorphism	-
Q14789	GOGB1_HUMAN	911	T	S	Polymorphism	-
Q14790	CASP8_HUMAN	248	R	W	Disease	Caspase-8 deficiency (CASP8D) [MIM:607271]
Q14790	CASP8_HUMAN	285	D	H	Polymorphism	-
Q14790	CASP8_HUMAN	219	S	T	Polymorphism	-
Q147U1	ZN846_HUMAN	450	C	Y	Polymorphism	-
Q147U1	ZN846_HUMAN	492	Y	C	Polymorphism	-
Q147U7	SMCO1_HUMAN	64	R	W	Polymorphism	-
Q147U7	SMCO1_HUMAN	20	H	Y	Polymorphism	-
Q14802	FXYD3_HUMAN	40	G	S	Polymorphism	-
Q14807	KIF22_HUMAN	148	P	S	Disease	Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]
Q14807	KIF22_HUMAN	232	R	Q	Polymorphism	-
Q14807	KIF22_HUMAN	148	P	L	Disease	Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]
Q14807	KIF22_HUMAN	149	R	Q	Disease	Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]
Q14807	KIF22_HUMAN	149	R	L	Disease	Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]
Q14814	MEF2D_HUMAN	434	P	S	Polymorphism	-
Q14831	GRM7_HUMAN	433	Y	F	Polymorphism	-
Q14831	GRM7_HUMAN	745	G	E	Polymorphism	-
Q14831	GRM7_HUMAN	495	I	V	Polymorphism	-
Q14832	GRM3_HUMAN	475	G	D	Polymorphism	-
Q14833	GRM4_HUMAN	169	L	F	Polymorphism	-
Q14833	GRM4_HUMAN	797	V	I	Polymorphism	-
Q14839	CHD4_HUMAN	1127	R	Q	Disease	Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159]
Q14839	CHD4_HUMAN	851	S	Y	Disease	Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159]
Q14839	CHD4_HUMAN	1148	W	L	Disease	Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159]
Q14839	CHD4_HUMAN	1068	R	H	Disease	Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159]
Q14839	CHD4_HUMAN	1173	R	L	Disease	Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159]
Q14839	CHD4_HUMAN	1648	S	L	Polymorphism	-
Q14839	CHD4_HUMAN	1655	I	V	Polymorphism	-
Q14839	CHD4_HUMAN	139	E	D	Polymorphism	-
Q14839	CHD4_HUMAN	1003	G	D	Disease	Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159]
Q14839	CHD4_HUMAN	1608	V	I	Unclassified	Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159]
Q14849	STAR3_HUMAN	117	R	Q	Polymorphism	-
Q14849	STAR3_HUMAN	216	G	A	Polymorphism	-
Q14894	CRYM_HUMAN	314	K	T	Disease	Deafness, autosomal dominant, 40 (DFNA40) [MIM:616357]
Q14896	MYPC3_HUMAN	507	G	R	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	383	L	V	Polymorphism	-
Q14896	MYPC3_HUMAN	669	L	H	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	545	L	M	Polymorphism	-
Q14896	MYPC3_HUMAN	382	R	W	Polymorphism	-
Q14896	MYPC3_HUMAN	417	A	S	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	451	E	Q	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	278	G	E	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	873	P	L	Disease	Left ventricular non-compaction 10 (LVNC10) [MIM:615396]
Q14896	MYPC3_HUMAN	998	Q	E	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	228	D	N	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	668	R	H	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	237	Y	S	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	5	G	R	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	562	A	V	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	161	P	S	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	896	V	M	Polymorphism	-
Q14896	MYPC3_HUMAN	1131	I	T	Unclassified	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	256	V	I	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	1046	T	M	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	755	N	K	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	522	A	T	Polymorphism	-
Q14896	MYPC3_HUMAN	279	G	A	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	495	R	G	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	1048	R	C	Polymorphism	-
Q14896	MYPC3_HUMAN	1003	P	Q	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	490	G	V	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	1115	V	I	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	282	R	W	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	792	W	R	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	236	S	G	Polymorphism	-
Q14896	MYPC3_HUMAN	1194	A	T	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	490	G	R	Disease	Cardiomyopathy, dilated 1MM (CMD1MM) [MIM:615396]
Q14896	MYPC3_HUMAN	59	T	A	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	654	R	H	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	1138	R	H	Polymorphism	-
Q14896	MYPC3_HUMAN	733	R	C	Unclassified	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	810	R	H	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	336	I	V	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	1264	C	F	Disease	Cardiomyopathy, dilated 1MM (CMD1MM) [MIM:615396]
Q14896	MYPC3_HUMAN	416	G	S	Polymorphism	-
Q14896	MYPC3_HUMAN	219	V	L	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	834	R	W	Unclassified	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	281	R	Q	Polymorphism	-
Q14896	MYPC3_HUMAN	495	R	Q	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	147	P	L	Polymorphism	-
Q14896	MYPC3_HUMAN	258	E	K	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	490	G	R	Disease	Left ventricular non-compaction 10 (LVNC10) [MIM:615396]
Q14896	MYPC3_HUMAN	770	D	N	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	272	R	C	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	958	T	I	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	957	T	S	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	1002	R	Q	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	458	R	H	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	833	A	T	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	948	N	T	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	771	V	M	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	873	P	H	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	1255	A	T	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	257	H	P	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	523	G	W	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	759	E	D	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	1028	T	S	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	1248	G	R	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	158	V	M	Polymorphism	-
Q14896	MYPC3_HUMAN	998	Q	R	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	834	R	T	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	833	A	T	Disease	Cardiomyopathy, dilated 1MM (CMD1MM) [MIM:615396]
Q14896	MYPC3_HUMAN	490	G	R	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	627	A	V	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	542	E	Q	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	502	R	Q	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	1002	R	W	Polymorphism	-
Q14896	MYPC3_HUMAN	604	D	V	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	273	R	H	Unclassified	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	605	D	N	Unclassified	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	342	V	D	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	263	G	R	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	334	E	K	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	1113	F	I	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	608	P	L	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	352	L	P	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	668	R	P	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	811	K	R	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	566	C	R	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	820	R	Q	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	189	V	I	Polymorphism	-
Q14896	MYPC3_HUMAN	326	R	Q	Polymorphism	-
Q14896	MYPC3_HUMAN	502	R	W	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14896	MYPC3_HUMAN	833	A	V	Disease	Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]
Q14914	PTGR1_HUMAN	27	A	S	Polymorphism	-
Q14916	NPT1_HUMAN	269	T	I	Polymorphism	-
Q14916	NPT1_HUMAN	76	S	N	Polymorphism	-
Q14929	ZN169_HUMAN	152	S	L	Polymorphism	-
Q14929	ZN169_HUMAN	72	P	L	Polymorphism	-
Q14929	ZN169_HUMAN	78	E	K	Polymorphism	-
Q14929	ZN169_HUMAN	596	Q	H	Polymorphism	-
Q14929	ZN169_HUMAN	381	R	C	Polymorphism	-
Q14934	NFAC4_HUMAN	160	G	A	Polymorphism	-
Q14934	NFAC4_HUMAN	800	S	P	Polymorphism	-
Q14934	NFAC4_HUMAN	246	S	N	Polymorphism	-
Q14938	NFIX_HUMAN	54	R	P	Disease	Sotos syndrome 2 (SOTOS2) [MIM:614753]
Q14938	NFIX_HUMAN	121	R	P	Disease	Sotos syndrome 2 (SOTOS2) [MIM:614753]
Q14938	NFIX_HUMAN	60	L	P	Disease	Sotos syndrome 2 (SOTOS2) [MIM:614753]
Q14938	NFIX_HUMAN	125	K	E	Disease	Sotos syndrome 2 (SOTOS2) [MIM:614753]
Q14938	NFIX_HUMAN	116	R	P	Disease	Sotos syndrome 2 (SOTOS2) [MIM:614753]
Q14938	NFIX_HUMAN	38	R	C	Disease	Sotos syndrome 2 (SOTOS2) [MIM:614753]
Q14943	KI3S1_HUMAN	2	L	S	Polymorphism	-
Q14943	KI3S1_HUMAN	13	L	F	Polymorphism	-
Q14943	KI3S1_HUMAN	203	P	S	Polymorphism	-
Q14943	KI3S1_HUMAN	68	V	I	Polymorphism	-
Q14943	KI3S1_HUMAN	220	L	P	Polymorphism	-
Q14943	KI3S1_HUMAN	166	R	H	Polymorphism	-
Q14943	KI3S1_HUMAN	259	G	R	Polymorphism	-
Q14943	KI3S1_HUMAN	157	R	K	Polymorphism	-
Q14953	KI2S5_HUMAN	148	S	F	Polymorphism	-
Q14953	KI2S5_HUMAN	237	E	K	Polymorphism	-
Q14953	KI2S5_HUMAN	197	R	T	Polymorphism	-
Q14953	KI2S5_HUMAN	175	P	T	Polymorphism	-
Q14953	KI2S5_HUMAN	195	T	A	Polymorphism	-
Q14953	KI2S5_HUMAN	132	S	P	Polymorphism	-
Q14953	KI2S5_HUMAN	2	S	L	Polymorphism	-
Q14953	KI2S5_HUMAN	185	F	S	Polymorphism	-
Q14953	KI2S5_HUMAN	144	S	N	Polymorphism	-
Q14953	KI2S5_HUMAN	22	H	R	Polymorphism	-
Q14953	KI2S5_HUMAN	179	R	G	Polymorphism	-
Q14953	KI2S5_HUMAN	203	R	H	Polymorphism	-
Q14954	KI2S1_HUMAN	111	L	V	Polymorphism	-
Q14954	KI2S1_HUMAN	91	K	R	Polymorphism	-
Q14956	GPNMB_HUMAN	197	N	H	Polymorphism	-
Q14956	GPNMB_HUMAN	110	A	D	Unclassified	A breast cancer sample
Q14956	GPNMB_HUMAN	531	S	I	Unclassified	A breast cancer sample
Q14956	GPNMB_HUMAN	195	S	C	Polymorphism	-
Q14956	GPNMB_HUMAN	538	S	R	Polymorphism	-
Q14956	GPNMB_HUMAN	324	P	L	Polymorphism	-
Q14956	GPNMB_HUMAN	294	S	F	Polymorphism	-
Q14957	NMDE3_HUMAN	573	M	T	Polymorphism	-
Q14957	NMDE3_HUMAN	679	R	C	Unclassified	-
Q14957	NMDE3_HUMAN	1141	P	A	Polymorphism	-
Q14957	NMDE3_HUMAN	166	A	V	Polymorphism	-
Q14957	NMDE3_HUMAN	989	S	P	Unclassified	-
Q14957	NMDE3_HUMAN	1079	H	Y	Polymorphism	-
Q14957	NMDE3_HUMAN	1209	R	S	Polymorphism	-
Q14957	NMDE3_HUMAN	871	Q	R	Polymorphism	-
Q14957	NMDE3_HUMAN	1196	T	I	Polymorphism	-
Q14957	NMDE3_HUMAN	995	S	L	Unclassified	-
Q14957	NMDE3_HUMAN	877	P	S	Polymorphism	-
Q14957	NMDE3_HUMAN	641	A	T	Polymorphism	-
Q14957	NMDE3_HUMAN	911	S	I	Polymorphism	-
Q14957	NMDE3_HUMAN	1180	G	R	Polymorphism	-
Q14957	NMDE3_HUMAN	863	I	T	Unclassified	-
Q14957	NMDE3_HUMAN	90	V	I	Polymorphism	-
Q14957	NMDE3_HUMAN	982	P	A	Polymorphism	-
Q14966	ZN638_HUMAN	980	N	S	Polymorphism	-
Q14966	ZN638_HUMAN	1726	V	M	Polymorphism	-
Q14966	ZN638_HUMAN	1912	A	V	Polymorphism	-
Q14966	ZN638_HUMAN	1462	S	N	Polymorphism	-
Q14966	ZN638_HUMAN	110	I	V	Polymorphism	-
Q14973	NTCP_HUMAN	267	S	F	Polymorphism	-
Q14978	NOLC1_HUMAN	456	S	P	Polymorphism	-
Q14978	NOLC1_HUMAN	412	G	V	Polymorphism	-
Q14980	NUMA1_HUMAN	2049	A	T	Polymorphism	-
Q14980	NUMA1_HUMAN	1153	E	D	Polymorphism	-
Q14980	NUMA1_HUMAN	794	A	G	Polymorphism	-
Q14980	NUMA1_HUMAN	1836	Y	H	Polymorphism	-
Q14980	NUMA1_HUMAN	1825	V	M	Polymorphism	-
Q14980	NUMA1_HUMAN	242	K	R	Polymorphism	-
Q14982	OPCM_HUMAN	95	P	R	Disease	Ovarian cancer (OC) [MIM:167000]
Q14990	ODFP1_HUMAN	243	F	L	Polymorphism	-
Q14990	ODFP1_HUMAN	216	S	N	Polymorphism	-
Q14993	COJA1_HUMAN	352	A	G	Polymorphism	-
Q14993	COJA1_HUMAN	1019	K	N	Unclassified	A breast cancer sample
Q14993	COJA1_HUMAN	406	G	E	Polymorphism	-
Q14993	COJA1_HUMAN	496	E	G	Polymorphism	-
Q14993	COJA1_HUMAN	361	G	D	Unclassified	A breast cancer sample
Q14994	NR1I3_HUMAN	247	F	S	Unclassified	-
Q14994	NR1I3_HUMAN	133	V	G	Polymorphism	-
Q14995	NR1D2_HUMAN	21	P	H	Polymorphism	-
Q14995	NR1D2_HUMAN	282	Q	K	Polymorphism	-
Q14995	NR1D2_HUMAN	386	L	M	Polymorphism	-
Q14995	NR1D2_HUMAN	288	P	R	Polymorphism	-
Q14997	PSME4_HUMAN	1371	S	T	Polymorphism	-
Q14997	PSME4_HUMAN	872	I	V	Polymorphism	-
Q14997	PSME4_HUMAN	1825	T	A	Polymorphism	-
Q14999	CUL7_HUMAN	1246	Q	H	Polymorphism	-
Q14999	CUL7_HUMAN	1014	L	R	Unclassified	3M syndrome 1 (3M1) [MIM:273750]
Q14999	CUL7_HUMAN	852	R	Q	Polymorphism	-
Q14999	CUL7_HUMAN	1588	L	P	Disease	3M syndrome 1 (3M1) [MIM:273750]
Q14999	CUL7_HUMAN	616	S	G	Polymorphism	-
Q14999	CUL7_HUMAN	1246	Q	G	Disease	3M syndrome 1 (3M1) [MIM:273750]
Q14999	CUL7_HUMAN	813	Q	R	Polymorphism	-
Q14999	CUL7_HUMAN	1464	H	P	Disease	3M syndrome 1 (3M1) [MIM:273750]
Q149M9	NWD1_HUMAN	211	L	F	Polymorphism	-
Q149M9	NWD1_HUMAN	218	A	T	Polymorphism	-
Q149M9	NWD1_HUMAN	900	Q	E	Polymorphism	-
Q149M9	NWD1_HUMAN	926	N	I	Polymorphism	-
Q149M9	NWD1_HUMAN	174	S	G	Polymorphism	-
Q149M9	NWD1_HUMAN	1541	D	V	Polymorphism	-
Q149M9	NWD1_HUMAN	935	H	R	Polymorphism	-
Q149N8	SHPRH_HUMAN	1222	V	D	Unclassified	-
Q149N8	SHPRH_HUMAN	1028	N	Y	Unclassified	A melanoma cell line
Q149N8	SHPRH_HUMAN	438	Q	R	Unclassified	An ovarian cancer cell line
Q149N8	SHPRH_HUMAN	460	S	F	Unclassified	A melanoma cell line
Q14C87	T132D_HUMAN	436	E	Q	Polymorphism	-
Q14C87	T132D_HUMAN	878	L	F	Polymorphism	-
Q14C87	T132D_HUMAN	460	D	H	Polymorphism	-
Q14CB8	RHG19_HUMAN	305	Q	R	Polymorphism	-
Q14CM0	FRPD4_HUMAN	553	C	R	Disease	Mental retardation, X-linked 104 (MRX104) [MIM:300983]
Q14CN2	CLCA4_HUMAN	43	P	S	Polymorphism	-
Q14CN2	CLCA4_HUMAN	810	V	L	Polymorphism	-
Q14CN2	CLCA4_HUMAN	443	D	V	Polymorphism	-
Q14CN2	CLCA4_HUMAN	449	M	L	Polymorphism	-
Q14CN4	K2C72_HUMAN	428	R	L	Polymorphism	-
Q14CN4	K2C72_HUMAN	366	D	E	Polymorphism	-
Q14CN4	K2C72_HUMAN	264	Y	C	Polymorphism	-
Q14CN4	K2C72_HUMAN	171	N	D	Polymorphism	-
Q14CN4	K2C72_HUMAN	326	Q	E	Polymorphism	-
Q14CX7	NAA25_HUMAN	789	S	R	Unclassified	A breast cancer sample
Q14CX7	NAA25_HUMAN	426	L	F	Polymorphism	-
Q14CX7	NAA25_HUMAN	915	L	I	Polymorphism	-
Q14CX7	NAA25_HUMAN	876	K	R	Polymorphism	-
Q14CZ0	CP072_HUMAN	221	N	S	Polymorphism	-
Q14CZ7	FAKD3_HUMAN	3	L	F	Polymorphism	-
Q14CZ7	FAKD3_HUMAN	56	K	R	Polymorphism	-
Q14CZ7	FAKD3_HUMAN	459	E	G	Polymorphism	-
Q14CZ7	FAKD3_HUMAN	22	L	V	Unclassified	A breast cancer sample
Q14CZ8	HECAM_HUMAN	128	D	N	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926]
Q14CZ8	HECAM_HUMAN	92	R	W	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926]
Q14CZ8	HECAM_HUMAN	89	G	D	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926]
Q14CZ8	HECAM_HUMAN	98	R	C	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
Q14CZ8	HECAM_HUMAN	92	R	Q	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
Q14CZ8	HECAM_HUMAN	211	D	N	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
Q14CZ8	HECAM_HUMAN	288	R	C	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926]
Q14CZ8	HECAM_HUMAN	196	S	Y	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
Q14CZ8	HECAM_HUMAN	23	L	H	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
Q14CZ8	HECAM_HUMAN	148	P	S	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
Q14CZ8	HECAM_HUMAN	218	M	V	Polymorphism	-
Q14CZ8	HECAM_HUMAN	89	G	S	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926]
Q14D04	MELT_HUMAN	271	S	C	Polymorphism	-
Q14D04	MELT_HUMAN	365	R	Q	Polymorphism	-
Q14D04	MELT_HUMAN	208	S	C	Polymorphism	-
Q14D04	MELT_HUMAN	263	V	G	Polymorphism	-
Q14D04	MELT_HUMAN	522	S	P	Polymorphism	-
Q14D04	MELT_HUMAN	501	S	L	Polymorphism	-
Q14D04	MELT_HUMAN	329	L	V	Polymorphism	-
Q14D04	MELT_HUMAN	319	M	V	Polymorphism	-
Q14D33	RTP5_HUMAN	412	G	D	Polymorphism	-
Q14D33	RTP5_HUMAN	101	G	E	Polymorphism	-
Q14DG7	T132B_HUMAN	658	A	V	Polymorphism	-
Q15003	CND2_HUMAN	243	P	L	Disease	Microcephaly 23, primary, autosomal recessive (MCPH23) [MIM:617985]
Q15003	CND2_HUMAN	539	V	A	Polymorphism	-
Q15004	PAF15_HUMAN	79	E	K	Polymorphism	-
Q15007	FL2D_HUMAN	84	E	D	Polymorphism	-
Q15011	HERP1_HUMAN	50	R	H	Polymorphism	-
Q15020	SART3_HUMAN	23	D	E	Polymorphism	-
Q15020	SART3_HUMAN	591	V	M	Unclassified	-
Q15020	SART3_HUMAN	621	E	D	Polymorphism	-
Q15021	CND1_HUMAN	580	K	R	Polymorphism	-
Q15021	CND1_HUMAN	8	F	S	Unclassified	Microcephaly 21, primary, autosomal recessive (MCPH21) [MIM:617983]
Q15021	CND1_HUMAN	797	V	M	Polymorphism	-
Q15021	CND1_HUMAN	83	Q	E	Polymorphism	-
Q15021	CND1_HUMAN	1321	T	S	Polymorphism	-
Q15022	SUZ12_HUMAN	610	E	V	Polymorphism	-
Q15022	SUZ12_HUMAN	216	N	I	Polymorphism	-
Q15024	EXOS7_HUMAN	274	V	L	Polymorphism	-
Q15024	EXOS7_HUMAN	169	R	Q	Polymorphism	-
Q15025	TNIP1_HUMAN	103	P	S	Polymorphism	-
Q15025	TNIP1_HUMAN	151	P	A	Polymorphism	-
Q15025	TNIP1_HUMAN	263	R	W	Unclassified	Patients with gastrointestinal diffuse large cell lymphoma
Q15025	TNIP1_HUMAN	476	E	K	Unclassified	Patients with gastrointestinal diffuse large cell lymphoma
Q15025	TNIP1_HUMAN	374	I	T	Unclassified	Patients with gastrointestinal diffuse large cell lymphoma
Q15025	TNIP1_HUMAN	260	A	V	Polymorphism	-
Q15025	TNIP1_HUMAN	233	R	Q	Polymorphism	-
Q15025	TNIP1_HUMAN	146	A	V	Polymorphism	-
Q15025	TNIP1_HUMAN	286	T	M	Unclassified	Patients with gastrointestinal diffuse large cell lymphoma
Q15027	ACAP1_HUMAN	129	R	Q	Unclassified	A colorectal cancer sample
Q15027	ACAP1_HUMAN	114	K	R	Unclassified	A breast cancer sample
Q15027	ACAP1_HUMAN	533	R	W	Polymorphism	-
Q15027	ACAP1_HUMAN	68	R	C	Polymorphism	-
Q15029	U5S1_HUMAN	476	C	R	Disease	Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]
Q15029	U5S1_HUMAN	262	R	W	Disease	Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]
Q15029	U5S1_HUMAN	773	G	V	Polymorphism	-
Q15029	U5S1_HUMAN	637	L	R	Disease	Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]
Q15031	SYLM_HUMAN	430	A	V	Disease	Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) [MIM:617021]
Q15031	SYLM_HUMAN	522	T	N	Disease	Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) [MIM:617021]
Q15031	SYLM_HUMAN	831	E	D	Polymorphism	-
Q15031	SYLM_HUMAN	629	T	M	Unclassified	Perrault syndrome 4 (PRLTS4) [MIM:615300]
Q15031	SYLM_HUMAN	727	K	N	Polymorphism	-
Q15031	SYLM_HUMAN	522	T	N	Disease	Perrault syndrome 4 (PRLTS4) [MIM:615300]
Q15032	R3HD1_HUMAN	632	Q	P	Polymorphism	-
Q15032	R3HD1_HUMAN	270	M	V	Polymorphism	-
Q15034	HERC3_HUMAN	946	E	Q	Polymorphism	-
Q15038	DAZP2_HUMAN	102	S	A	Polymorphism	-
Q15040	JOS1_HUMAN	48	S	R	Polymorphism	-
Q15042	RB3GP_HUMAN	598	N	S	Polymorphism	-
Q15043	S39AE_HUMAN	98	F	V	Disease	Hypermanganesemia with dystonia 2 (HMNDYT2) [MIM:617013]
Q15043	S39AE_HUMAN	383	G	R	Disease	Hypermanganesemia with dystonia 2 (HMNDYT2) [MIM:617013]
Q15043	S39AE_HUMAN	441	L	R	Disease	Hyperostosis cranialis interna (HCIN) [MIM:144755]
Q15043	S39AE_HUMAN	469	N	K	Disease	Hypermanganesemia with dystonia 2 (HMNDYT2) [MIM:617013]
Q15043	S39AE_HUMAN	33	L	P	Polymorphism	-
Q15046	SYK_HUMAN	595	T	S	Polymorphism	-
Q15046	SYK_HUMAN	105	L	H	Disease	Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) [MIM:613641]
Q15046	SYK_HUMAN	179	G	A	Polymorphism	-
Q15046	SYK_HUMAN	390	P	R	Unclassified	-
Q15046	SYK_HUMAN	350	L	H	Unclassified	-
Q15046	SYK_HUMAN	349	D	N	Disease	Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916]
Q15046	SYK_HUMAN	274	I	M	Disease	Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) [MIM:613641]
Q15046	SYK_HUMAN	145	Y	H	Disease	Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916]
Q15046	SYK_HUMAN	477	R	H	Disease	-
Q15046	SYK_HUMAN	525	E	K	Unclassified	-
Q15046	SYK_HUMAN	505	P	S	Disease	-
Q15046	SYK_HUMAN	438	R	W	Unclassified	-
Q15047	SETB1_HUMAN	824	A	G	Polymorphism	-
Q15047	SETB1_HUMAN	824	A	P	Polymorphism	-
Q15047	SETB1_HUMAN	236	N	S	Polymorphism	-
Q15047	SETB1_HUMAN	506	P	S	Polymorphism	-
Q15048	LRC14_HUMAN	437	G	D	Polymorphism	-
Q15049	MLC1_HUMAN	84	R	C	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	212	G	R	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	171	C	F	Polymorphism	-
Q15049	MLC1_HUMAN	245	A	P	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	280	S	L	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	93	S	L	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	118	T	R	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	344	N	S	Polymorphism	-
Q15049	MLC1_HUMAN	141	N	S	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	246	S	R	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	320	T	K	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	141	N	K	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	92	P	S	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	69	S	L	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	59	G	E	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	80	M	I	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	125	C	R	Disease	Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]
Q15049	MLC1_HUMAN	309	L	M	Polymorphism	-
Q15050	RRS1_HUMAN	191	R	L	Polymorphism	-
Q15050	RRS1_HUMAN	116	Q	H	Polymorphism	-
Q15050	RRS1_HUMAN	126	K	R	Polymorphism	-
Q15051	IQCB1_HUMAN	435	R	C	Polymorphism	-
Q15051	IQCB1_HUMAN	393	I	N	Polymorphism	-
Q15051	IQCB1_HUMAN	434	C	Y	Polymorphism	-
Q15051	IQCB1_HUMAN	142	F	L	Polymorphism	-
Q15052	ARHG6_HUMAN	297	Q	H	Polymorphism	-
Q15054	DPOD3_HUMAN	195	M	L	Unclassified	-
Q15054	DPOD3_HUMAN	194	G	V	Unclassified	-
Q15058	KIF14_HUMAN	459	G	R	Unclassified	Microcephaly 20, primary, autosomal recessive (MCPH20) [MIM:617914]
Q15058	KIF14_HUMAN	1633	P	A	Polymorphism	-
Q15058	KIF14_HUMAN	1221	G	V	Disease	Microcephaly 20, primary, autosomal recessive (MCPH20) [MIM:617914]
Q15058	KIF14_HUMAN	841	S	F	Unclassified	Microcephaly 20, primary, autosomal recessive (MCPH20) [MIM:617914]
Q15058	KIF14_HUMAN	849	H	D	Disease	Microcephaly 20, primary, autosomal recessive (MCPH20) [MIM:617914]
Q15059	BRD3_HUMAN	172	A	V	Polymorphism	-
Q15059	BRD3_HUMAN	435	K	Q	Polymorphism	-
Q15059	BRD3_HUMAN	447	S	P	Polymorphism	-
Q15059	BRD3_HUMAN	161	A	T	Unclassified	A gastric adenocarcinoma sample
Q15059	BRD3_HUMAN	36	T	N	Unclassified	A renal clear cell carcinoma sample
Q15059	BRD3_HUMAN	441	R	H	Polymorphism	-
Q15063	POSTN_HUMAN	339	T	I	Polymorphism	-
Q15063	POSTN_HUMAN	814	V	M	Polymorphism	-
Q15067	ACOX1_HUMAN	101	G	S	Polymorphism	-
Q15067	ACOX1_HUMAN	310	S	P	Disease	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
Q15067	ACOX1_HUMAN	309	Q	R	Disease	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
Q15067	ACOX1_HUMAN	178	G	C	Disease	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
Q15067	ACOX1_HUMAN	312	I	M	Polymorphism	-
Q15067	ACOX1_HUMAN	153	T	I	Polymorphism	-
Q15067	ACOX1_HUMAN	231	G	V	Disease	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
Q15067	ACOX1_HUMAN	184	S	L	Disease	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
Q15067	ACOX1_HUMAN	278	M	V	Disease	Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
Q15070	OXA1L_HUMAN	44	V	A	Polymorphism	-
Q15070	OXA1L_HUMAN	91	V	I	Polymorphism	-
Q15072	OZF_HUMAN	8	R	K	Polymorphism	-
Q15075	EEA1_HUMAN	810	K	Q	Polymorphism	-
Q15080	NCF4_HUMAN	153	R	H	Polymorphism	-
Q15080	NCF4_HUMAN	147	L	I	Polymorphism	-
Q15080	NCF4_HUMAN	105	R	Q	Disease	Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive (CGD3) [MIM:613960]
Q15084	PDIA6_HUMAN	214	K	R	Polymorphism	-
Q15102	PA1B3_HUMAN	214	R	G	Polymorphism	-
Q15109	RAGE_HUMAN	100	Q	R	Polymorphism	-
Q15109	RAGE_HUMAN	82	G	S	Polymorphism	-
Q15111	PLCL1_HUMAN	454	P	S	Polymorphism	-
Q15111	PLCL1_HUMAN	667	V	I	Polymorphism	-
Q15111	PLCL1_HUMAN	684	W	C	Polymorphism	-
Q15111	PLCL1_HUMAN	937	S	N	Polymorphism	-
Q15111	PLCL1_HUMAN	546	S	F	Polymorphism	-
Q15111	PLCL1_HUMAN	445	D	N	Polymorphism	-
Q15116	PDCD1_HUMAN	215	A	V	Polymorphism	-
Q15118	PDK1_HUMAN	412	N	T	Polymorphism	-
Q15118	PDK1_HUMAN	134	A	T	Polymorphism	-
Q15119	PDK2_HUMAN	342	G	R	Unclassified	A glioblastoma multiforme sample
Q15120	PDK3_HUMAN	219	E	A	Unclassified	A head & neck squamous cell carcinoma sample
Q15120	PDK3_HUMAN	334	Y	S	Polymorphism	-
Q15120	PDK3_HUMAN	158	R	H	Disease	Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905]
Q15120	PDK3_HUMAN	114	K	T	Polymorphism	-
Q15125	EBP_HUMAN	80	E	K	Disease	Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
Q15125	EBP_HUMAN	47	W	C	Disease	MEND syndrome (MEND) [MIM:300960]
Q15125	EBP_HUMAN	75	I	N	Disease	MEND syndrome (MEND) [MIM:300960]
Q15125	EBP_HUMAN	18	L	P	Disease	MEND syndrome (MEND) [MIM:300960]
Q15125	EBP_HUMAN	110	R	Q	Disease	Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
Q15125	EBP_HUMAN	147	R	H	Disease	Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
Q15125	EBP_HUMAN	103	E	K	Disease	Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
Q15125	EBP_HUMAN	47	W	R	Disease	MEND syndrome (MEND) [MIM:300960]
Q15125	EBP_HUMAN	147	R	G	Disease	Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
Q15126	PMVK_HUMAN	125	V	M	Polymorphism	-
Q15126	PMVK_HUMAN	69	K	E	Unclassified	Porokeratosis 1, multiple types (POROK1) [MIM:175800]
Q15131	CDK10_HUMAN	358	C	Y	Polymorphism	-
Q15131	CDK10_HUMAN	342	R	H	Polymorphism	-
Q15131	CDK10_HUMAN	96	P	L	Polymorphism	-
Q15131	CDK10_HUMAN	168	N	S	Polymorphism	-
Q15139	KPCD1_HUMAN	679	P	L	Polymorphism	-
Q15139	KPCD1_HUMAN	225	S	P	Polymorphism	-
Q15139	KPCD1_HUMAN	592	G	R	Disease	Congenital heart defects and ectodermal dysplasia (CHDED) [MIM:617364]
Q15139	KPCD1_HUMAN	825	R	K	Polymorphism	-
Q15139	KPCD1_HUMAN	152	H	Y	Unclassified	A colorectal cancer sample
Q15139	KPCD1_HUMAN	857	E	K	Unclassified	A colorectal cancer sample
Q15139	KPCD1_HUMAN	478	K	Q	Polymorphism	-
Q15139	KPCD1_HUMAN	299	L	W	Disease	Congenital heart defects and ectodermal dysplasia (CHDED) [MIM:617364]
Q15139	KPCD1_HUMAN	585	P	S	Unclassified	A metastatic melanoma sample
Q15139	KPCD1_HUMAN	891	H	R	Polymorphism	-
Q15139	KPCD1_HUMAN	677	R	M	Unclassified	A lung bronchoalveolar carcinoma sample
Q15147	PLCB4_HUMAN	623	Y	C	Disease	Auriculocondylar syndrome 2 (ARCND2) [MIM:614669]
Q15147	PLCB4_HUMAN	21	A	T	Polymorphism	-
Q15147	PLCB4_HUMAN	621	R	H	Disease	Auriculocondylar syndrome 2 (ARCND2) [MIM:614669]
Q15147	PLCB4_HUMAN	650	N	H	Disease	Auriculocondylar syndrome 2 (ARCND2) [MIM:614669]
Q15147	PLCB4_HUMAN	621	R	C	Disease	Auriculocondylar syndrome 2 (ARCND2) [MIM:614669]
Q15147	PLCB4_HUMAN	329	N	T	Disease	Auriculocondylar syndrome 2 (ARCND2) [MIM:614669]
Q15147	PLCB4_HUMAN	710	G	S	Polymorphism	-
Q15149	PLEC_HUMAN	2969	R	H	Polymorphism	-
Q15149	PLEC_HUMAN	3945	G	S	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 17 (LGMDR17) [MIM:613723]
Q15149	PLEC_HUMAN	2821	R	W	Polymorphism	-
Q15149	PLEC_HUMAN	2110	R	W	Disease	Epidermolysis bullosa simplex, Ogna type (O-EBS) [MIM:131950]
Q15149	PLEC_HUMAN	2150	R	W	Polymorphism	-
Q15149	PLEC_HUMAN	641	A	V	Polymorphism	-
Q15149	PLEC_HUMAN	102	R	H	Polymorphism	-
Q15149	PLEC_HUMAN	2791	S	P	Polymorphism	-
Q15149	PLEC_HUMAN	2194	A	V	Polymorphism	-
Q15149	PLEC_HUMAN	3171	A	V	Polymorphism	-
Q15149	PLEC_HUMAN	1321	L	V	Polymorphism	-
Q15149	PLEC_HUMAN	3490	G	A	Polymorphism	-
Q15149	PLEC_HUMAN	1459	H	R	Polymorphism	-
Q15149	PLEC_HUMAN	3162	V	I	Polymorphism	-
Q15149	PLEC_HUMAN	3486	T	M	Polymorphism	-
Q15149	PLEC_HUMAN	1386	R	Q	Polymorphism	-
Q15149	PLEC_HUMAN	2005	R	W	Polymorphism	-
Q15154	PCM1_HUMAN	691	A	S	Polymorphism	-
Q15154	PCM1_HUMAN	1543	T	I	Polymorphism	-
Q15154	PCM1_HUMAN	159	N	S	Polymorphism	-
Q15154	PCM1_HUMAN	1701	K	N	Polymorphism	-
Q15154	PCM1_HUMAN	600	S	P	Polymorphism	-
Q15154	PCM1_HUMAN	597	M	V	Polymorphism	-
Q15154	PCM1_HUMAN	1251	R	H	Polymorphism	-
Q15154	PCM1_HUMAN	1326	E	D	Polymorphism	-
Q15154	PCM1_HUMAN	1865	N	D	Polymorphism	-
Q15154	PCM1_HUMAN	176	A	D	Polymorphism	-
Q15154	PCM1_HUMAN	871	G	V	Polymorphism	-
Q15155	NOMO1_HUMAN	1195	R	G	Polymorphism	-
Q15155	NOMO1_HUMAN	1141	I	F	Polymorphism	-
Q15155	NOMO1_HUMAN	490	N	D	Polymorphism	-
Q15155	NOMO1_HUMAN	580	M	V	Polymorphism	-
Q15155	NOMO1_HUMAN	583	V	A	Polymorphism	-
Q15155	NOMO1_HUMAN	493	M	V	Polymorphism	-
Q15155	NOMO1_HUMAN	458	K	N	Polymorphism	-
Q15155	NOMO1_HUMAN	404	I	V	Polymorphism	-
Q15155	NOMO1_HUMAN	1081	E	K	Polymorphism	-
Q15165	PON2_HUMAN	311	S	C	Polymorphism	-
Q15165	PON2_HUMAN	172	V	L	Polymorphism	-
Q15165	PON2_HUMAN	148	A	G	Polymorphism	-
Q15166	PON3_HUMAN	179	A	D	Polymorphism	-
Q15166	PON3_HUMAN	146	E	K	Polymorphism	-
Q15170	TCAL1_HUMAN	5	R	C	Polymorphism	-
Q15181	IPYR_HUMAN	57	K	N	Unclassified	A breast cancer sample
Q15198	PGFRL_HUMAN	23	H	Y	Disease	Colorectal cancer (CRC) [MIM:114500]
Q15208	STK38_HUMAN	18	E	K	Unclassified	A metastatic melanoma sample
Q15208	STK38_HUMAN	145	D	N	Polymorphism	-
Q15208	STK38_HUMAN	267	K	R	Polymorphism	-
Q15238	PSG5_HUMAN	227	R	H	Polymorphism	-
Q15238	PSG5_HUMAN	18	L	V	Polymorphism	-
Q15238	PSG5_HUMAN	168	T	I	Polymorphism	-
Q15238	PSG5_HUMAN	154	N	K	Polymorphism	-
Q15256	PTPRR_HUMAN	314	K	R	Polymorphism	-
Q15256	PTPRR_HUMAN	386	V	I	Polymorphism	-
Q15256	PTPRR_HUMAN	249	Y	H	Polymorphism	-
Q15256	PTPRR_HUMAN	439	V	I	Polymorphism	-
Q15257	PTPA_HUMAN	357	S	L	Polymorphism	-
Q15257	PTPA_HUMAN	28	K	R	Polymorphism	-
Q15257	PTPA_HUMAN	208	R	Q	Polymorphism	-
Q15269	PWP2_HUMAN	25	D	N	Polymorphism	-
Q15269	PWP2_HUMAN	551	F	I	Polymorphism	-
Q15269	PWP2_HUMAN	174	E	K	Polymorphism	-
Q15274	NADC_HUMAN	195	T	A	Polymorphism	-
Q15274	NADC_HUMAN	158	A	V	Polymorphism	-
Q15276	RABE1_HUMAN	640	E	G	Polymorphism	-
Q15293	RCN1_HUMAN	117	F	L	Unclassified	A colorectal cancer sample
Q15293	RCN1_HUMAN	73	D	Y	Polymorphism	-
Q15303	ERBB4_HUMAN	1275	R	W	Disease	Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515]
Q15303	ERBB4_HUMAN	140	T	I	Unclassified	A colorectal adenocarcinoma sample
Q15303	ERBB4_HUMAN	927	R	Q	Disease	Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515]
Q15303	ERBB4_HUMAN	303	S	Y	Unclassified	A lung squamous cell carcinoma sample
Q15311	RBP1_HUMAN	617	A	V	Polymorphism	-
Q15319	PO4F3_HUMAN	299	P	L	Disease	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15319	PO4F3_HUMAN	64	D	V	Disease	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15319	PO4F3_HUMAN	194	F	Y	Disease	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15319	PO4F3_HUMAN	222	S	L	Disease	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15319	PO4F3_HUMAN	223	L	P	Disease	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15319	PO4F3_HUMAN	232	E	K	Unclassified	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15319	PO4F3_HUMAN	326	R	K	Disease	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15319	PO4F3_HUMAN	240	N	Y	Disease	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15319	PO4F3_HUMAN	281	I	V	Disease	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15319	PO4F3_HUMAN	164	P	R	Unclassified	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15319	PO4F3_HUMAN	328	K	E	Disease	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15319	PO4F3_HUMAN	289	L	F	Disease	Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
Q15323	K1H1_HUMAN	377	A	V	Polymorphism	-
Q15323	K1H1_HUMAN	39	A	G	Polymorphism	-
Q15323	K1H1_HUMAN	82	A	V	Polymorphism	-
Q15327	ANKR1_HUMAN	116	T	M	Disease	Total anomalous pulmonary venous return (TAPVR) [MIM:106700]
Q15329	E2F5_HUMAN	18	G	A	Polymorphism	-
Q15334	L2GL1_HUMAN	550	Q	H	Polymorphism	-
Q15334	L2GL1_HUMAN	148	S	G	Polymorphism	-
Q15345	LRC41_HUMAN	609	V	I	Polymorphism	-
Q15349	KS6A2_HUMAN	732	R	Q	Unclassified	A colorectal adenocarcinoma sample
Q15349	KS6A2_HUMAN	311	E	K	Unclassified	A metastatic melanoma sample
Q15361	TTF1_HUMAN	401	R	Q	Polymorphism	-
Q15361	TTF1_HUMAN	35	E	K	Polymorphism	-
Q15361	TTF1_HUMAN	473	E	K	Polymorphism	-
Q15361	TTF1_HUMAN	290	A	S	Polymorphism	-
Q15361	TTF1_HUMAN	360	G	V	Polymorphism	-
Q15361	TTF1_HUMAN	303	V	A	Polymorphism	-
Q15361	TTF1_HUMAN	885	A	V	Polymorphism	-
Q15375	EPHA7_HUMAN	278	P	S	Polymorphism	-
Q15375	EPHA7_HUMAN	232	G	R	Unclassified	A metastatic melanoma sample
Q15375	EPHA7_HUMAN	170	E	K	Unclassified	A colorectal adenocarcinoma sample
Q15375	EPHA7_HUMAN	371	R	W	Unclassified	A colorectal cancer sample
Q15375	EPHA7_HUMAN	138	I	V	Polymorphism	-
Q15375	EPHA7_HUMAN	903	P	S	Unclassified	A metastatic melanoma sample
Q15382	RHEB_HUMAN	139	E	K	Unclassified	A colorectal cancer sample
Q15388	TOM20_HUMAN	134	V	L	Polymorphism	-
Q15388	TOM20_HUMAN	117	P	L	Polymorphism	-
Q15389	ANGP1_HUMAN	247	L	P	Polymorphism	-
Q15391	P2Y14_HUMAN	140	L	P	Unclassified	A colorectal cancer sample
Q15392	DHC24_HUMAN	480	E	K	Disease	Desmosterolosis (DESMOS) [MIM:602398]
Q15392	DHC24_HUMAN	191	E	K	Disease	Desmosterolosis (DESMOS) [MIM:602398]
Q15392	DHC24_HUMAN	471	Y	S	Disease	Desmosterolosis (DESMOS) [MIM:602398]
Q15392	DHC24_HUMAN	306	K	N	Disease	Desmosterolosis (DESMOS) [MIM:602398]
Q15392	DHC24_HUMAN	294	N	T	Disease	Desmosterolosis (DESMOS) [MIM:602398]
Q15392	DHC24_HUMAN	94	R	H	Disease	Desmosterolosis (DESMOS) [MIM:602398]
Q15393	SF3B3_HUMAN	908	G	R	Polymorphism	-
Q15397	PUM3_HUMAN	414	T	S	Polymorphism	-
Q15397	PUM3_HUMAN	13	S	N	Polymorphism	-
Q15397	PUM3_HUMAN	297	V	L	Polymorphism	-
Q15397	PUM3_HUMAN	480	R	Q	Polymorphism	-
Q15397	PUM3_HUMAN	289	R	P	Polymorphism	-
Q15397	PUM3_HUMAN	264	I	V	Polymorphism	-
Q15398	DLGP5_HUMAN	324	Q	H	Polymorphism	-
Q15398	DLGP5_HUMAN	469	T	I	Polymorphism	-
Q15398	DLGP5_HUMAN	69	G	E	Polymorphism	-
Q15398	DLGP5_HUMAN	753	E	Q	Polymorphism	-
Q15399	TLR1_HUMAN	460	I	V	Polymorphism	-
Q15399	TLR1_HUMAN	352	H	N	Polymorphism	-
Q15399	TLR1_HUMAN	75	I	T	Polymorphism	-
Q15399	TLR1_HUMAN	44	S	P	Polymorphism	-
Q15399	TLR1_HUMAN	631	L	R	Polymorphism	-
Q15399	TLR1_HUMAN	118	H	Y	Polymorphism	-
Q15399	TLR1_HUMAN	720	H	P	Polymorphism	-
Q15399	TLR1_HUMAN	733	P	L	Polymorphism	-
Q15399	TLR1_HUMAN	80	R	T	Polymorphism	-
Q15399	TLR1_HUMAN	305	H	L	Polymorphism	-
Q15399	TLR1_HUMAN	542	V	A	Polymorphism	-
Q15399	TLR1_HUMAN	248	N	S	Polymorphism	-
Q15399	TLR1_HUMAN	651	V	A	Polymorphism	-
Q15399	TLR1_HUMAN	554	Y	C	Polymorphism	-
Q15399	TLR1_HUMAN	587	V	G	Polymorphism	-
Q15399	TLR1_HUMAN	315	P	L	Polymorphism	-
Q15399	TLR1_HUMAN	602	S	I	Polymorphism	-
Q15399	TLR1_HUMAN	674	V	A	Polymorphism	-
Q15413	RYR3_HUMAN	261	R	S	Polymorphism	-
Q15413	RYR3_HUMAN	494	V	I	Polymorphism	-
Q15413	RYR3_HUMAN	1380	E	G	Polymorphism	-
Q15413	RYR3_HUMAN	731	I	V	Polymorphism	-
Q15413	RYR3_HUMAN	693	Y	C	Polymorphism	-
Q15413	RYR3_HUMAN	358	I	T	Polymorphism	-
Q15418	KS6A1_HUMAN	335	K	T	Polymorphism	-
Q15431	SYCP1_HUMAN	78	E	D	Polymorphism	-
Q15431	SYCP1_HUMAN	805	E	D	Polymorphism	-
Q15436	SC23A_HUMAN	211	L	V	Polymorphism	-
Q15436	SC23A_HUMAN	382	F	L	Disease	Craniolenticulosutural dysplasia (CLSD) [MIM:607812]
Q15437	SC23B_HUMAN	594	V	G	Disease	Cowden syndrome 7 (CWS7) [MIM:616858]
Q15437	SC23B_HUMAN	462	Y	C	Polymorphism	-
Q15437	SC23B_HUMAN	603	S	L	Disease	Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100]
Q15437	SC23B_HUMAN	318	I	T	Polymorphism	-
Q15437	SC23B_HUMAN	239	D	G	Polymorphism	-
Q15437	SC23B_HUMAN	373	M	V	Polymorphism	-
Q15437	SC23B_HUMAN	489	H	Q	Polymorphism	-
Q15437	SC23B_HUMAN	313	R	H	Polymorphism	-
Q15437	SC23B_HUMAN	164	V	L	Unclassified	Cowden syndrome 7 (CWS7) [MIM:616858]
Q15437	SC23B_HUMAN	433	P	L	Polymorphism	-
Q15437	SC23B_HUMAN	524	A	V	Polymorphism	-
Q15437	SC23B_HUMAN	426	V	I	Polymorphism	-
Q15437	SC23B_HUMAN	701	R	C	Disease	Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100]
Q15437	SC23B_HUMAN	14	R	W	Disease	Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100]
Q15437	SC23B_HUMAN	109	E	K	Disease	Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100]
Q15437	SC23B_HUMAN	348	D	A	Disease	Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100]
Q15437	SC23B_HUMAN	386	Q	R	Polymorphism	-
Q15437	SC23B_HUMAN	497	R	C	Unclassified	Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100]
Q15437	SC23B_HUMAN	530	R	W	Disease	Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100]
Q15437	SC23B_HUMAN	18	R	H	Polymorphism	-
Q15459	SF3A1_HUMAN	511	R	W	Unclassified	A colorectal cancer sample
Q15465	SHH_HUMAN	296	G	A	Unclassified	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	280	S	W	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	26	P	L	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	111	I	F	Disease	Solitary median maxillary central incisor (SMMCI) [MIM:147250]
Q15465	SHH_HUMAN	310	R	C	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	267	T	I	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	88	D	V	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	224	V	E	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	373	A	T	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	226	A	T	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	222	D	N	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	83	D	V	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	321	R	S	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	115	N	K	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	117	W	R	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	382	L	P	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	188	E	Q	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	117	W	G	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	374	H	R	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	456	G	R	Unclassified	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	346	A	V	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	377	F	S	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	17	L	P	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	364	Y	C	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	231	G	V	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	6	R	T	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	53	E	K	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	363	C	Y	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	198	C	F	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	332	V	A	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	198	C	S	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	381	R	P	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	232	R	G	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	136	E	K	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	347	P	L	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	234	L	P	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	111	I	N	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	196	G	E	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	102	C	R	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	362	S	L	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	236	S	R	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	102	C	Y	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	184	S	L	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	147	D	N	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	197	G	V	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	236	S	N	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	124	V	M	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	144	R	P	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	241	F	L	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	183	C	R	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	218	L	P	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	100	Q	H	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	150	T	R	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	376	A	D	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	109	L	F	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	435	Y	N	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	271	L	P	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	140	H	Q	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	424	P	A	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	255	I	N	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	241	F	V	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	354	I	T	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	391	A	T	Unclassified	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	436	S	L	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	171	D	H	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	31	G	R	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	332	V	A	Disease	Solitary median maxillary central incisor (SMMCI) [MIM:147250]
Q15465	SHH_HUMAN	27	G	A	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	183	C	F	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	84	I	F	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	347	P	R	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	110	A	D	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	416	T	A	Unclassified	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	150	T	K	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	183	C	Y	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	383	A	T	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	110	A	T	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	347	P	Q	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	290	G	D	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	39	L	P	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	170	F	C	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	143	G	D	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	275	A	E	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	156	S	R	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15465	SHH_HUMAN	140	H	P	Disease	Holoprosencephaly 3 (HPE3) [MIM:142945]
Q15466	NR0B2_HUMAN	57	R	W	Polymorphism	-
Q15466	NR0B2_HUMAN	216	R	H	Polymorphism	-
Q15466	NR0B2_HUMAN	213	R	C	Polymorphism	-
Q15466	NR0B2_HUMAN	171	G	A	Polymorphism	-
Q15466	NR0B2_HUMAN	195	A	S	Polymorphism	-
Q15466	NR0B2_HUMAN	189	G	E	Polymorphism	-
Q15468	STIL_HUMAN	984	H	R	Polymorphism	-
Q15468	STIL_HUMAN	1145	A	V	Polymorphism	-
Q15468	STIL_HUMAN	1012	P	R	Polymorphism	-
Q15468	STIL_HUMAN	86	A	V	Polymorphism	-
Q15468	STIL_HUMAN	798	L	W	Disease	Microcephaly 7, primary, autosomal recessive (MCPH7) [MIM:612703]
Q15475	SIX1_HUMAN	110	R	W	Disease	Branchiootic syndrome 3 (BOS3) [MIM:608389]
Q15475	SIX1_HUMAN	99	R	C	Polymorphism	-
Q15475	SIX1_HUMAN	112	R	C	Disease	Branchiootic syndrome 3 (BOS3) [MIM:608389]
Q15475	SIX1_HUMAN	17	V	E	Disease	Branchiootic syndrome 3 (BOS3) [MIM:608389]
Q15475	SIX1_HUMAN	122	W	R	Disease	Branchiootic syndrome 3 (BOS3) [MIM:608389]
Q15475	SIX1_HUMAN	106	V	G	Disease	Branchiootic syndrome 3 (BOS3) [MIM:608389]
Q15475	SIX1_HUMAN	129	Y	C	Disease	Branchiootic syndrome 3 (BOS3) [MIM:608389]
Q15475	SIX1_HUMAN	73	H	P	Disease	Branchiootic syndrome 3 (BOS3) [MIM:608389]
Q15475	SIX1_HUMAN	249	P	L	Unclassified	-
Q15475	SIX1_HUMAN	110	R	Q	Disease	Branchiootic syndrome 3 (BOS3) [MIM:608389]
Q15477	SKIV2_HUMAN	765	M	I	Unclassified	A colorectal cancer sample
Q15477	SKIV2_HUMAN	1153	G	R	Polymorphism	-
Q15477	SKIV2_HUMAN	183	L	V	Unclassified	A breast cancer sample
Q15477	SKIV2_HUMAN	887	D	N	Polymorphism	-
Q15477	SKIV2_HUMAN	151	Q	R	Polymorphism	-
Q15477	SKIV2_HUMAN	1238	V	G	Polymorphism	-
Q15477	SKIV2_HUMAN	341	V	G	Disease	Trichohepatoenteric syndrome 2 (THES2) [MIM:614602]
Q15477	SKIV2_HUMAN	214	M	L	Polymorphism	-
Q15477	SKIV2_HUMAN	917	V	M	Polymorphism	-
Q15477	SKIV2_HUMAN	324	R	W	Polymorphism	-
Q15477	SKIV2_HUMAN	1071	A	V	Polymorphism	-
Q15485	FCN2_HUMAN	80	P	L	Unclassified	A colorectal cancer sample
Q15485	FCN2_HUMAN	258	A	S	Polymorphism	-
Q15485	FCN2_HUMAN	117	G	S	Polymorphism	-
Q15485	FCN2_HUMAN	236	T	M	Polymorphism	-
Q15485	FCN2_HUMAN	113	H	Y	Polymorphism	-
Q15517	CDSN_HUMAN	202	S	F	Polymorphism	-
Q15517	CDSN_HUMAN	408	S	A	Polymorphism	-
Q15517	CDSN_HUMAN	527	D	N	Polymorphism	-
Q15517	CDSN_HUMAN	150	S	N	Polymorphism	-
Q15517	CDSN_HUMAN	145	G	S	Polymorphism	-
Q15517	CDSN_HUMAN	18	M	L	Polymorphism	-
Q15517	CDSN_HUMAN	56	L	F	Polymorphism	-
Q15517	CDSN_HUMAN	401	S	G	Polymorphism	-
Q15517	CDSN_HUMAN	410	S	L	Polymorphism	-
Q15517	CDSN_HUMAN	143	N	S	Polymorphism	-
Q15526	SURF1_HUMAN	274	Y	D	Disease	Leigh syndrome (LS) [MIM:256000]
Q15526	SURF1_HUMAN	90	L	P	Disease	Leigh syndrome (LS) [MIM:256000]
Q15526	SURF1_HUMAN	56	A	G	Unclassified	-
Q15526	SURF1_HUMAN	205	G	E	Disease	Leigh syndrome (LS) [MIM:256000]
Q15526	SURF1_HUMAN	124	G	E	Disease	Leigh syndrome (LS) [MIM:256000]
Q15526	SURF1_HUMAN	177	V	G	Disease	Leigh syndrome (LS) [MIM:256000]
Q15526	SURF1_HUMAN	257	G	R	Disease	Leigh syndrome (LS) [MIM:256000]
Q15526	SURF1_HUMAN	202	D	H	Polymorphism	-
Q15526	SURF1_HUMAN	227	W	R	Unclassified	Leigh syndrome (LS) [MIM:256000]
Q15526	SURF1_HUMAN	248	A	D	Disease	Leigh syndrome (LS) [MIM:256000]
Q15526	SURF1_HUMAN	192	R	W	Unclassified	Charcot-Marie-Tooth disease 4K (CMT4K) [MIM:616684]
Q15526	SURF1_HUMAN	246	I	T	Disease	Leigh syndrome (LS) [MIM:256000]
Q15526	SURF1_HUMAN	235	M	T	Disease	Leigh syndrome (LS) [MIM:256000]
Q15526	SURF1_HUMAN	124	G	R	Disease	Leigh syndrome (LS) [MIM:256000]
Q15526	SURF1_HUMAN	89	N	K	Unclassified	A breast cancer sample
Q15527	SURF2_HUMAN	221	R	Q	Polymorphism	-
Q15527	SURF2_HUMAN	213	S	G	Polymorphism	-
Q15542	TAF5_HUMAN	130	S	A	Polymorphism	-
Q15543	TAF13_HUMAN	40	M	K	Disease	Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432]
Q15543	TAF13_HUMAN	31	L	H	Disease	Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432]
Q15544	TAF11_HUMAN	68	T	R	Polymorphism	-
Q15544	TAF11_HUMAN	155	S	F	Polymorphism	-
Q15545	TAF7_HUMAN	178	S	R	Polymorphism	-
Q15554	TERF2_HUMAN	455	S	G	Polymorphism	-
Q15555	MARE2_HUMAN	87	Y	C	Disease	Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734]
Q15555	MARE2_HUMAN	143	R	C	Disease	Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734]
Q15555	MARE2_HUMAN	68	N	S	Disease	Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734]
Q15555	MARE2_HUMAN	162	Y	C	Polymorphism	-
Q15561	TEAD4_HUMAN	323	P	S	Polymorphism	-
Q15569	TESK1_HUMAN	574	G	S	Polymorphism	-
Q15569	TESK1_HUMAN	539	H	Y	Unclassified	Breast cancer samples
Q15572	TAF1C_HUMAN	635	G	S	Polymorphism	-
Q15572	TAF1C_HUMAN	357	R	H	Polymorphism	-
Q15572	TAF1C_HUMAN	808	P	S	Polymorphism	-
Q15572	TAF1C_HUMAN	518	H	Y	Polymorphism	-
Q15572	TAF1C_HUMAN	523	G	R	Polymorphism	-
Q15572	TAF1C_HUMAN	573	P	L	Polymorphism	-
Q15572	TAF1C_HUMAN	793	P	L	Polymorphism	-
Q15572	TAF1C_HUMAN	591	A	G	Polymorphism	-
Q15572	TAF1C_HUMAN	575	L	M	Polymorphism	-
Q15572	TAF1C_HUMAN	91	C	Y	Polymorphism	-
Q15572	TAF1C_HUMAN	816	R	H	Polymorphism	-
Q15572	TAF1C_HUMAN	304	S	F	Polymorphism	-
Q15572	TAF1C_HUMAN	791	T	M	Polymorphism	-
Q15572	TAF1C_HUMAN	387	S	L	Polymorphism	-
Q15573	TAF1A_HUMAN	98	I	M	Polymorphism	-
Q15582	BGH3_HUMAN	572	H	R	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	540	F	S	Disease	Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]
Q15582	BGH3_HUMAN	518	L	P	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	539	V	D	Polymorphism	-
Q15582	BGH3_HUMAN	124	R	C	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	594	G	V	Unclassified	-
Q15582	BGH3_HUMAN	124	R	H	Disease	Corneal dystrophy, Avellino type (CDA) [MIM:607541]
Q15582	BGH3_HUMAN	551	P	Q	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	113	V	I	Polymorphism	-
Q15582	BGH3_HUMAN	569	L	R	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	501	P	T	Disease	Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]
Q15582	BGH3_HUMAN	544	N	S	Polymorphism	-
Q15582	BGH3_HUMAN	546	A	D	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	546	A	T	Disease	Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]
Q15582	BGH3_HUMAN	527	L	R	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	124	R	L	Disease	Corneal dystrophy, Reis-Bucklers type (CDRB) [MIM:608470]
Q15582	BGH3_HUMAN	666	R	S	Unclassified	Corneal dystrophy, epithelial basement membrane (EBMD) [MIM:121820]
Q15582	BGH3_HUMAN	555	R	Q	Disease	Corneal dystrophy, Thiel-Behnke type (CDTB) [MIM:602082]
Q15582	BGH3_HUMAN	124	R	S	Disease	Corneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900]
Q15582	BGH3_HUMAN	631	V	D	Unclassified	-
Q15582	BGH3_HUMAN	555	R	W	Disease	Corneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900]
Q15582	BGH3_HUMAN	622	N	K	Disease	Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]
Q15582	BGH3_HUMAN	505	V	D	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	626	H	P	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	626	H	R	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	538	T	R	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	509	L	R	Disease	Corneal dystrophy, epithelial basement membrane (EBMD) [MIM:121820]
Q15582	BGH3_HUMAN	518	L	R	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	496	R	G	Polymorphism	-
Q15582	BGH3_HUMAN	623	G	D	Disease	Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
Q15582	BGH3_HUMAN	269	L	F	Polymorphism	-
Q15582	BGH3_HUMAN	200	I	F	Polymorphism	-
Q15582	BGH3_HUMAN	622	N	H	Unclassified	-
Q15582	BGH3_HUMAN	123	D	H	Polymorphism	-
Q15583	TGIF1_HUMAN	292	P	L	Polymorphism	-
Q15583	TGIF1_HUMAN	292	P	S	Polymorphism	-
Q15583	TGIF1_HUMAN	289	P	S	Polymorphism	-
Q15583	TGIF1_HUMAN	280	T	A	Disease	Holoprosencephaly 4 (HPE4) [MIM:142946]
Q15583	TGIF1_HUMAN	192	P	R	Disease	Holoprosencephaly 4 (HPE4) [MIM:142946]
Q15583	TGIF1_HUMAN	157	S	C	Disease	Holoprosencephaly 4 (HPE4) [MIM:142946]
Q15583	TGIF1_HUMAN	291	S	F	Disease	Holoprosencephaly 4 (HPE4) [MIM:142946]
Q15583	TGIF1_HUMAN	236	Q	L	Disease	Holoprosencephaly 4 (HPE4) [MIM:142946]
Q15596	NCOA2_HUMAN	1282	M	I	Polymorphism	-
Q155Q3	DIXC1_HUMAN	300	K	R	Polymorphism	-
Q15612	OR1Q1_HUMAN	163	I	M	Polymorphism	-
Q15612	OR1Q1_HUMAN	24	Q	R	Polymorphism	-
Q15612	OR1Q1_HUMAN	240	T	A	Polymorphism	-
Q15615	OR4D1_HUMAN	54	R	Q	Polymorphism	-
Q15615	OR4D1_HUMAN	174	L	I	Polymorphism	-
Q15617	OR8G1_HUMAN	247	A	V	Polymorphism	-
Q15619	OR1C1_HUMAN	209	T	M	Polymorphism	-
Q15633	TRBP2_HUMAN	251	S	F	Polymorphism	-
Q15637	SF01_HUMAN	357	S	T	Polymorphism	-
Q15643	TRIPB_HUMAN	39	M	L	Polymorphism	-
Q15643	TRIPB_HUMAN	1503	M	V	Polymorphism	-
Q15643	TRIPB_HUMAN	559	V	A	Polymorphism	-
Q15643	TRIPB_HUMAN	1107	E	D	Polymorphism	-
Q15643	TRIPB_HUMAN	1752	R	K	Polymorphism	-
Q15643	TRIPB_HUMAN	1846	T	I	Polymorphism	-
Q15643	TRIPB_HUMAN	884	D	G	Polymorphism	-
Q15643	TRIPB_HUMAN	1749	E	A	Polymorphism	-
Q15643	TRIPB_HUMAN	795	V	L	Polymorphism	-
Q15643	TRIPB_HUMAN	1040	I	V	Polymorphism	-
Q15643	TRIPB_HUMAN	1576	R	H	Polymorphism	-
Q15643	TRIPB_HUMAN	1413	D	A	Polymorphism	-
Q15643	TRIPB_HUMAN	1827	G	S	Polymorphism	-
Q15643	TRIPB_HUMAN	506	E	A	Polymorphism	-
Q15646	OASL_HUMAN	341	N	I	Polymorphism	-
Q15648	MED1_HUMAN	1240	S	G	Polymorphism	-
Q15648	MED1_HUMAN	753	P	T	Polymorphism	-
Q15649	ZNHI3_HUMAN	31	S	L	Disease	PEHO syndrome (PEHO) [MIM:260565]
Q15652	JHD2C_HUMAN	1393	N	Y	Polymorphism	-
Q15652	JHD2C_HUMAN	272	A	T	Polymorphism	-
Q15652	JHD2C_HUMAN	464	S	T	Polymorphism	-
Q15652	JHD2C_HUMAN	591	M	V	Polymorphism	-
Q15652	JHD2C_HUMAN	394	E	D	Polymorphism	-
Q15652	JHD2C_HUMAN	2400	D	E	Polymorphism	-
Q15652	JHD2C_HUMAN	2535	E	D	Polymorphism	-
Q15653	IKBB_HUMAN	339	R	W	Polymorphism	-
Q15654	TRIP6_HUMAN	111	R	Q	Polymorphism	-
Q15654	TRIP6_HUMAN	230	V	I	Polymorphism	-
Q15654	TRIP6_HUMAN	296	L	F	Polymorphism	-
Q15661	TRYB1_HUMAN	141	T	M	Polymorphism	-
Q15661	TRYB1_HUMAN	18	A	V	Polymorphism	-
Q15661	TRYB1_HUMAN	162	D	N	Polymorphism	-
Q15661	TRYB1_HUMAN	133	V	I	Polymorphism	-
Q15661	TRYB1_HUMAN	132	N	K	Polymorphism	-
Q15661	TRYB1_HUMAN	168	R	P	Polymorphism	-
Q15661	TRYB1_HUMAN	245	G	D	Polymorphism	-
Q15661	TRYB1_HUMAN	29	V	A	Polymorphism	-
Q15661	TRYB1_HUMAN	136	H	R	Polymorphism	-
Q15661	TRYB1_HUMAN	52	G	D	Polymorphism	-
Q15661	TRYB1_HUMAN	221	Q	K	Polymorphism	-
Q15661	TRYB1_HUMAN	118	I	T	Polymorphism	-
Q15661	TRYB1_HUMAN	28	R	Q	Polymorphism	-
Q15661	TRYB1_HUMAN	116	A	I	Polymorphism	-
Q15661	TRYB1_HUMAN	53	P	R	Polymorphism	-
Q15661	TRYB1_HUMAN	205	V	I	Polymorphism	-
Q15661	TRYB1_HUMAN	76	V	L	Polymorphism	-
Q15661	TRYB1_HUMAN	23	G	V	Polymorphism	-
Q15661	TRYB1_HUMAN	141	T	A	Polymorphism	-
Q15661	TRYB1_HUMAN	216	R	Q	Polymorphism	-
Q15661	TRYB1_HUMAN	51	H	R	Polymorphism	-
Q15661	TRYB1_HUMAN	115	T	I	Polymorphism	-
Q15661	TRYB1_HUMAN	15	R	P	Polymorphism	-
Q15661	TRYB1_HUMAN	3	N	S	Polymorphism	-
Q15661	TRYB1_HUMAN	215	T	S	Polymorphism	-
Q15661	TRYB1_HUMAN	170	P	S	Polymorphism	-
Q15661	TRYB1_HUMAN	85	A	T	Polymorphism	-
Q15661	TRYB1_HUMAN	263	Y	N	Polymorphism	-
Q15672	TWST1_HUMAN	95	S	G	Polymorphism	-
Q15672	TWST1_HUMAN	83	G	S	Unclassified	-
Q15672	TWST1_HUMAN	131	L	P	Disease	Saethre-Chotzen syndrome (SCS) [MIM:101400]
Q15672	TWST1_HUMAN	186	A	T	Disease	Craniosynostosis 1 (CRS1) [MIM:123100]
Q15672	TWST1_HUMAN	156	I	V	Disease	Saethre-Chotzen syndrome (SCS) [MIM:101400]
Q15672	TWST1_HUMAN	117	E	G	Disease	Sweeney-Cox syndrome (SWCOS) [MIM:617746]
Q15672	TWST1_HUMAN	117	E	V	Disease	Sweeney-Cox syndrome (SWCOS) [MIM:617746]
Q15672	TWST1_HUMAN	188	S	L	Disease	Craniosynostosis 1 (CRS1) [MIM:123100]
Q15672	TWST1_HUMAN	119	Q	P	Disease	Saethre-Chotzen syndrome (SCS) [MIM:101400]
Q15678	PTN14_HUMAN	505	V	F	Polymorphism	-
Q15678	PTN14_HUMAN	159	Q	E	Unclassified	A breast cancer sample
Q15678	PTN14_HUMAN	360	H	P	Unclassified	A breast cancer sample
Q15714	T22D1_HUMAN	652	P	S	Polymorphism	-
Q15722	LT4R1_HUMAN	346	L	F	Polymorphism	-
Q15726	KISS1_HUMAN	115	N	K	Disease	Hypogonadotropic hypogonadism 13 with or without anosmia (HH13) [MIM:614842]
Q15726	KISS1_HUMAN	36	Q	R	Polymorphism	-
Q15726	KISS1_HUMAN	20	E	K	Polymorphism	-
Q15726	KISS1_HUMAN	81	P	R	Polymorphism	-
Q15735	PI5PA_HUMAN	333	S	I	Polymorphism	-
Q15738	NSDHL_HUMAN	182	A	P	Disease	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]
Q15738	NSDHL_HUMAN	105	A	V	Disease	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]
Q15738	NSDHL_HUMAN	205	G	S	Disease	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]
Q15743	OGR1_HUMAN	39	N	S	Unclassified	-
Q15743	OGR1_HUMAN	53	R	Q	Polymorphism	-
Q15743	OGR1_HUMAN	74	L	P	Disease	Amelogenesis imperfecta, hypomaturation type, 2A6 (AI2A6) [MIM:617217]
Q15746	MYLK_HUMAN	133	Q	H	Polymorphism	-
Q15746	MYLK_HUMAN	845	R	C	Polymorphism	-
Q15746	MYLK_HUMAN	877	V	M	Polymorphism	-
Q15746	MYLK_HUMAN	861	L	P	Polymorphism	-
Q15746	MYLK_HUMAN	914	D	E	Polymorphism	-
Q15746	MYLK_HUMAN	1754	A	T	Disease	Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780]
Q15746	MYLK_HUMAN	128	A	V	Polymorphism	-
Q15746	MYLK_HUMAN	1527	A	V	Polymorphism	-
Q15746	MYLK_HUMAN	656	W	C	Polymorphism	-
Q15746	MYLK_HUMAN	692	T	M	Polymorphism	-
Q15746	MYLK_HUMAN	21	P	H	Polymorphism	-
Q15746	MYLK_HUMAN	709	V	M	Polymorphism	-
Q15746	MYLK_HUMAN	261	V	A	Polymorphism	-
Q15746	MYLK_HUMAN	276	T	A	Polymorphism	-
Q15746	MYLK_HUMAN	1399	E	K	Polymorphism	-
Q15746	MYLK_HUMAN	1759	S	P	Disease	Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780]
Q15746	MYLK_HUMAN	1588	P	L	Unclassified	An ovarian mucinous carcinoma sample
Q15746	MYLK_HUMAN	701	A	T	Polymorphism	-
Q15746	MYLK_HUMAN	607	R	G	Polymorphism	-
Q15746	MYLK_HUMAN	405	M	V	Polymorphism	-
Q15746	MYLK_HUMAN	652	P	A	Polymorphism	-
Q15746	MYLK_HUMAN	160	P	R	Polymorphism	-
Q15746	MYLK_HUMAN	336	P	L	Polymorphism	-
Q15746	MYLK_HUMAN	378	R	H	Polymorphism	-
Q15746	MYLK_HUMAN	1085	T	A	Polymorphism	-
Q15746	MYLK_HUMAN	1213	V	M	Unclassified	Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780]
Q15746	MYLK_HUMAN	443	P	S	Polymorphism	-
Q15750	TAB1_HUMAN	224	D	E	Polymorphism	-
Q15751	HERC1_HUMAN	3152	S	F	Polymorphism	-
Q15751	HERC1_HUMAN	1447	H	N	Polymorphism	-
Q15751	HERC1_HUMAN	2816	A	T	Polymorphism	-
Q15751	HERC1_HUMAN	3485	S	N	Unclassified	-
Q15751	HERC1_HUMAN	4394	I	V	Polymorphism	-
Q15751	HERC1_HUMAN	3722	E	D	Polymorphism	-
Q15751	HERC1_HUMAN	2220	I	V	Polymorphism	-
Q15751	HERC1_HUMAN	1411	G	V	Polymorphism	-
Q15751	HERC1_HUMAN	3517	G	R	Polymorphism	-
Q15751	HERC1_HUMAN	4520	G	E	Disease	Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) [MIM:617011]
Q15751	HERC1_HUMAN	1278	L	F	Polymorphism	-
Q15751	HERC1_HUMAN	1696	G	A	Polymorphism	-
Q15751	HERC1_HUMAN	1088	L	F	Polymorphism	-
Q15751	HERC1_HUMAN	1995	T	A	Polymorphism	-
Q15751	HERC1_HUMAN	1572	S	A	Polymorphism	-
Q15758	AAAT_HUMAN	512	V	L	Polymorphism	-
Q15758	AAAT_HUMAN	17	P	A	Polymorphism	-
Q15759	MK11_HUMAN	275	R	H	Polymorphism	-
Q15759	MK11_HUMAN	221	A	V	Unclassified	A lung neuroendocrine carcinoma sample
Q15760	GPR19_HUMAN	189	V	I	Polymorphism	-
Q15762	CD226_HUMAN	307	S	G	Polymorphism	-
Q15768	EFNB3_HUMAN	166	R	Q	Polymorphism	-
Q15772	SPEG_HUMAN	1135	A	V	Polymorphism	-
Q15772	SPEG_HUMAN	1621	R	C	Polymorphism	-
Q15772	SPEG_HUMAN	1340	R	Q	Polymorphism	-
Q15772	SPEG_HUMAN	2742	V	M	Unclassified	A gastric adenocarcinoma sample
Q15772	SPEG_HUMAN	1903	R	W	Unclassified	An ovarian mucinous carcinoma sample
Q15772	SPEG_HUMAN	934	R	C	Polymorphism	-
Q15772	SPEG_HUMAN	1234	R	W	Polymorphism	-
Q15772	SPEG_HUMAN	1178	E	D	Unclassified	A gastric adenocarcinoma sample
Q15772	SPEG_HUMAN	1103	P	L	Polymorphism	-
Q15772	SPEG_HUMAN	966	R	Q	Polymorphism	-
Q15772	SPEG_HUMAN	2687	P	T	Polymorphism	-
Q15772	SPEG_HUMAN	2189	P	L	Polymorphism	-
Q15772	SPEG_HUMAN	2757	G	V	Disease	Myopathy, centronuclear, 5 (CNM5) [MIM:615959]
Q15772	SPEG_HUMAN	3079	H	R	Polymorphism	-
Q15772	SPEG_HUMAN	206	R	H	Polymorphism	-
Q15773	MLF2_HUMAN	80	F	C	Unclassified	A colorectal cancer sample
Q15776	ZKSC8_HUMAN	163	P	L	Polymorphism	-
Q15777	MPPD2_HUMAN	67	H	R	Polymorphism	-
Q15782	CH3L2_HUMAN	182	A	V	Polymorphism	-
Q15782	CH3L2_HUMAN	184	V	I	Polymorphism	-
Q15782	CH3L2_HUMAN	318	R	W	Polymorphism	-
Q15785	TOM34_HUMAN	293	R	K	Polymorphism	-
Q15788	NCOA1_HUMAN	999	S	F	Polymorphism	-
Q15788	NCOA1_HUMAN	591	I	T	Polymorphism	-
Q15788	NCOA1_HUMAN	794	P	A	Polymorphism	-
Q15788	NCOA1_HUMAN	1238	V	I	Polymorphism	-
Q15788	NCOA1_HUMAN	1272	P	S	Polymorphism	-
Q15788	NCOA1_HUMAN	457	Q	K	Polymorphism	-
Q15788	NCOA1_HUMAN	685	E	A	Polymorphism	-
Q15788	NCOA1_HUMAN	1154	M	T	Polymorphism	-
Q15788	NCOA1_HUMAN	474	S	P	Polymorphism	-
Q15788	NCOA1_HUMAN	466	N	K	Polymorphism	-
Q15796	SMAD2_HUMAN	450	D	E	Unclassified	A colorectal carcinoma sample
Q15796	SMAD2_HUMAN	133	R	C	Unclassified	A colorectal carcinoma sample
Q15796	SMAD2_HUMAN	445	P	H	Unclassified	A colorectal carcinoma sample
Q15796	SMAD2_HUMAN	440	L	R	Unclassified	A colorectal carcinoma sample
Q15796	SMAD2_HUMAN	300	D	V	Unclassified	A colorectal cancer sample
Q15797	SMAD1_HUMAN	3	V	A	Unclassified	-
Q15800	MSMO1_HUMAN	244	Y	C	Disease	Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834]
Q15800	MSMO1_HUMAN	173	H	Q	Disease	Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834]
Q15800	MSMO1_HUMAN	115	G	R	Unclassified	Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834]
Q15800	MSMO1_HUMAN	124	N	S	Polymorphism	-
Q15811	ITSN1_HUMAN	1137	S	N	Polymorphism	-
Q15813	TBCE_HUMAN	155	I	N	Disease	Encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO) [MIM:617207]
Q15813	TBCE_HUMAN	333	S	T	Polymorphism	-
Q15813	TBCE_HUMAN	205	V	A	Polymorphism	-
Q15813	TBCE_HUMAN	409	E	G	Polymorphism	-
Q15814	TBCC_HUMAN	157	G	D	Polymorphism	-
Q15814	TBCC_HUMAN	169	P	S	Polymorphism	-
Q15814	TBCC_HUMAN	86	E	D	Polymorphism	-
Q15814	TBCC_HUMAN	279	A	T	Polymorphism	-
Q15814	TBCC_HUMAN	65	V	A	Polymorphism	-
Q15814	TBCC_HUMAN	180	P	S	Polymorphism	-
Q15819	UB2V2_HUMAN	36	E	G	Polymorphism	-
Q15819	UB2V2_HUMAN	78	P	Q	Polymorphism	-
Q15822	ACHA2_HUMAN	279	I	N	Disease	Epilepsy, nocturnal frontal lobe, 4 (ENFL4) [MIM:610353]
Q15822	ACHA2_HUMAN	22	T	I	Polymorphism	-
Q15822	ACHA2_HUMAN	125	T	A	Polymorphism	-
Q15822	ACHA2_HUMAN	376	R	W	Unclassified	Seizures, benign familial infantile, 6 (BFIS6) [MIM:610353]
Q15825	ACHA6_HUMAN	447	N	S	Polymorphism	-
Q15831	STK11_HUMAN	176	D	Y	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	314	P	H	Unclassified	Colorectal cancer
Q15831	STK11_HUMAN	354	F	L	Unclassified	Colorectal cancer
Q15831	STK11_HUMAN	194	D	V	Unclassified	Lung cancer
Q15831	STK11_HUMAN	171	G	S	Unclassified	Colorectal cancer
Q15831	STK11_HUMAN	308	W	C	Disease	Peutz-Jeghers syndrome (PJS) [MIM:175200]
Q15831	STK11_HUMAN	324	P	L	Unclassified	Gastric carcinoma
Q15831	STK11_HUMAN	281	P	L	Unclassified	Ovarian carcinoma
Q15831	STK11_HUMAN	272	Y	H	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	245	L	R	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	367	T	M	Unclassified	Colorectal cancer
Q15831	STK11_HUMAN	232	S	P	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	66	V	M	Unclassified	Cervical carcinoma
Q15831	STK11_HUMAN	176	D	N	Disease	Peutz-Jeghers syndrome (PJS) [MIM:175200]
Q15831	STK11_HUMAN	223	E	V	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	170	Q	P	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	231	F	L	Unclassified	Cervical cancer
Q15831	STK11_HUMAN	14	E	K	Unclassified	Cervical cancer
Q15831	STK11_HUMAN	199	E	K	Unclassified	Colorectal cancer
Q15831	STK11_HUMAN	285	L	Q	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	194	D	Y	Unclassified	Melanoma
Q15831	STK11_HUMAN	49	Y	D	Unclassified	Melanoma
Q15831	STK11_HUMAN	163	G	D	Disease	Testicular germ cell tumor (TGCT) [MIM:273300]
Q15831	STK11_HUMAN	135	G	R	Unclassified	Melanoma
Q15831	STK11_HUMAN	250	T	P	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	239	W	C	Disease	Peutz-Jeghers syndrome (PJS) [MIM:175200]
Q15831	STK11_HUMAN	208	D	N	Unclassified	Colorectal cancer
Q15831	STK11_HUMAN	194	D	N	Disease	Peutz-Jeghers syndrome (PJS) [MIM:175200]
Q15831	STK11_HUMAN	177	I	N	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	277	D	Y	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	87	R	K	Unclassified	A metastatic melanoma sample
Q15831	STK11_HUMAN	205	A	T	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	67	L	P	Disease	Peutz-Jeghers syndrome (PJS) [MIM:175200]
Q15831	STK11_HUMAN	181	N	E	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	123	Q	R	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	216	S	F	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	160	L	P	Unclassified	Cervical cancer
Q15831	STK11_HUMAN	174	H	R	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	16	E	G	Disease	Peutz-Jeghers syndrome (PJS) [MIM:175200]
Q15831	STK11_HUMAN	215	G	D	Unclassified	Colorectal cancer
Q15831	STK11_HUMAN	199	E	Q	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	297	R	K	Disease	Peutz-Jeghers syndrome (PJS) [MIM:175200]
Q15831	STK11_HUMAN	86	R	G	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	315	P	S	Disease	Peutz-Jeghers syndrome (PJS) [MIM:175200]
Q15831	STK11_HUMAN	230	T	P	Unclassified	Sporadic cancer
Q15831	STK11_HUMAN	157	F	S	Unclassified	Sporadic cancer
Q15833	STXB2_HUMAN	477	P	L	Disease	Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101]
Q15833	STXB2_HUMAN	405	R	W	Disease	Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101]
Q15833	STXB2_HUMAN	292	R	H	Disease	Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101]
Q15833	STXB2_HUMAN	526	I	V	Polymorphism	-
Q15833	STXB2_HUMAN	209	L	P	Disease	Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101]
Q15833	STXB2_HUMAN	405	R	Q	Disease	Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101]
Q15835	GRK1_HUMAN	380	V	D	Disease	Night blindness, congenital stationary, Oguchi type 2 (CSNBO2) [MIM:613411]
Q15835	GRK1_HUMAN	330	N	S	Polymorphism	-
Q15835	GRK1_HUMAN	391	P	H	Disease	Night blindness, congenital stationary, Oguchi type 2 (CSNBO2) [MIM:613411]
Q15835	GRK1_HUMAN	514	C	S	Polymorphism	-
Q15835	GRK1_HUMAN	522	M	T	Polymorphism	-
Q15835	GRK1_HUMAN	136	E	Q	Polymorphism	-
Q15835	GRK1_HUMAN	438	R	H	Polymorphism	-
Q15835	GRK1_HUMAN	298	T	M	Polymorphism	-
Q15835	GRK1_HUMAN	536	S	L	Polymorphism	-
Q15842	KCNJ8_HUMAN	346	V	I	Disease	Sudden infant death syndrome (SIDS) [MIM:272120]
Q15842	KCNJ8_HUMAN	176	C	S	Unclassified	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
Q15842	KCNJ8_HUMAN	334	V	A	Polymorphism	-
Q15842	KCNJ8_HUMAN	422	S	L	Unclassified	-
Q15842	KCNJ8_HUMAN	65	V	M	Unclassified	Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
Q15848	ADIPO_HUMAN	90	G	S	Polymorphism	-
Q15848	ADIPO_HUMAN	117	V	M	Polymorphism	-
Q15848	ADIPO_HUMAN	111	Y	H	Polymorphism	-
Q15848	ADIPO_HUMAN	112	R	C	Disease	Adiponectin deficiency (ADPND) [MIM:612556]
Q15848	ADIPO_HUMAN	221	R	S	Polymorphism	-
Q15848	ADIPO_HUMAN	84	G	R	Polymorphism	-
Q15848	ADIPO_HUMAN	241	H	P	Polymorphism	-
Q15848	ADIPO_HUMAN	164	I	T	Polymorphism	-
Q15849	UT2_HUMAN	132	I	V	Polymorphism	-
Q15849	UT2_HUMAN	750	V	I	Polymorphism	-
Q15849	UT2_HUMAN	510	R	Q	Polymorphism	-
Q15849	UT2_HUMAN	880	A	T	Polymorphism	-
Q15849	UT2_HUMAN	37	T	I	Polymorphism	-
Q15849	UT2_HUMAN	443	G	S	Polymorphism	-
Q15858	SCN9A_HUMAN	750	I	V	Polymorphism	-
Q15858	SCN9A_HUMAN	1134	L	F	Polymorphism	-
Q15858	SCN9A_HUMAN	943	M	L	Polymorphism	-
Q15858	SCN9A_HUMAN	907	R	Q	Disease	Indifference to pain, congenital, autosomal recessive (CIP) [MIM:243000]
Q15858	SCN9A_HUMAN	666	K	R	Disease	Generalized epilepsy with febrile seizures plus 7 (GEFS+7) [MIM:613863]
Q15858	SCN9A_HUMAN	149	P	Q	Disease	Febrile seizures, familial, 3B (FEB3B) [MIM:613863]
Q15858	SCN9A_HUMAN	1919	D	G	Polymorphism	-
Q15858	SCN9A_HUMAN	859	I	T	Disease	Primary erythermalgia (PERYTHM) [MIM:133020]
Q15858	SCN9A_HUMAN	1310	V	F	Disease	Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
Q15858	SCN9A_HUMAN	1643	A	E	Disease	Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
Q15858	SCN9A_HUMAN	695	I	M	Polymorphism	-
Q15858	SCN9A_HUMAN	710	C	Y	Polymorphism	-
Q15858	SCN9A_HUMAN	228	I	M	Polymorphism	-
Q15858	SCN9A_HUMAN	490	S	N	Polymorphism	-
Q15858	SCN9A_HUMAN	1171	E	Q	Unclassified	-
Q15858	SCN9A_HUMAN	1309	V	F	Disease	Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
Q15858	SCN9A_HUMAN	1623	L	P	Disease	Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
Q15858	SCN9A_HUMAN	1278	L	V	Polymorphism	-
Q15858	SCN9A_HUMAN	1472	I	T	Disease	Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
Q15858	SCN9A_HUMAN	641	N	Y	Disease	Generalized epilepsy with febrile seizures plus 7 (GEFS+7) [MIM:613863]
Q15858	SCN9A_HUMAN	869	L	F	Disease	Primary erythermalgia (PERYTHM) [MIM:133020]
Q15858	SCN9A_HUMAN	406	E	K	Disease	Primary erythermalgia (PERYTHM) [MIM:133020]
Q15858	SCN9A_HUMAN	519	E	K	Polymorphism	-
Q15858	SCN9A_HUMAN	1475	T	I	Disease	Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
Q15858	SCN9A_HUMAN	241	S	T	Disease	Primary erythermalgia (PERYTHM) [MIM:133020]
Q15858	SCN9A_HUMAN	1643	A	T	Disease	Primary erythermalgia (PERYTHM) [MIM:133020]
Q15858	SCN9A_HUMAN	869	L	H	Disease	Primary erythermalgia (PERYTHM) [MIM:133020]
Q15858	SCN9A_HUMAN	10	Q	R	Disease	Primary erythermalgia (PERYTHM) [MIM:133020]
Q15858	SCN9A_HUMAN	1460	F	V	Disease	Primary erythermalgia (PERYTHM) [MIM:133020]
Q15858	SCN9A_HUMAN	1643	A	E	Disease	Primary erythermalgia (PERYTHM) [MIM:133020]
Q15858	SCN9A_HUMAN	1007	R	C	Disease	Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
Q15858	SCN9A_HUMAN	1161	W	R	Polymorphism	-
Q15858	SCN9A_HUMAN	216	F	S	Disease	Primary erythermalgia (PERYTHM) [MIM:133020]
Q15858	SCN9A_HUMAN	932	M	L	Polymorphism	-
Q15858	SCN9A_HUMAN	62	I	V	Disease	Febrile seizures, familial, 3B (FEB3B) [MIM:613863]
Q15858	SCN9A_HUMAN	395	N	K	Disease	Primary erythermalgia (PERYTHM) [MIM:133020]
Q15858	SCN9A_HUMAN	1473	F	V	Disease	Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
Q15858	SCN9A_HUMAN	1638	M	K	Disease	Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
Q15858	SCN9A_HUMAN	1309	V	D	Disease	Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
Q15878	CAC1E_HUMAN	352	G	R	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	228	L	P	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	603	I	L	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	698	F	S	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	1955	A	T	Polymorphism	-
Q15878	CAC1E_HUMAN	702	A	P	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	1430	G	R	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	702	A	T	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	1422	I	F	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	348	G	R	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	690	G	D	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	700	A	T	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	701	I	V	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	859	D	E	Polymorphism	-
Q15878	CAC1E_HUMAN	1425	T	N	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15878	CAC1E_HUMAN	1720	A	G	Disease	Epileptic encephalopathy, early infantile, 69 (EIEE69) [MIM:618285]
Q15884	F1892_HUMAN	261	R	K	Polymorphism	-
Q15884	F1892_HUMAN	233	T	I	Polymorphism	-
Q15904	VAS1_HUMAN	313	Y	C	Disease	Immunodeficiency 47 (IMD47) [MIM:300972]
Q15904	VAS1_HUMAN	144	L	P	Disease	Immunodeficiency 47 (IMD47) [MIM:300972]
Q15904	VAS1_HUMAN	346	E	K	Disease	Immunodeficiency 47 (IMD47) [MIM:300972]
Q15904	VAS1_HUMAN	428	M	I	Disease	Immunodeficiency 47 (IMD47) [MIM:300972]
Q15906	VPS72_HUMAN	318	I	V	Unclassified	A breast cancer sample
Q15907	RB11B_HUMAN	22	V	M	Disease	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807]
Q15907	RB11B_HUMAN	68	A	T	Disease	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807]
Q15910	EZH2_HUMAN	621	V	M	Unclassified	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	132	P	S	Disease	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	133	Y	C	Disease	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	641	Y	H	Polymorphism	-
Q15910	EZH2_HUMAN	571	C	W	Unclassified	-
Q15910	EZH2_HUMAN	641	Y	N	Polymorphism	-
Q15910	EZH2_HUMAN	679	R	C	Disease	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	658	Y	N	Disease	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	156	K	E	Disease	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	641	Y	F	Polymorphism	-
Q15910	EZH2_HUMAN	134	M	T	Disease	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	690	S	L	Disease	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	736	Y	C	Disease	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	677	A	G	Polymorphism	-
Q15910	EZH2_HUMAN	641	Y	S	Polymorphism	-
Q15910	EZH2_HUMAN	185	D	H	Polymorphism	-
Q15910	EZH2_HUMAN	685	R	C	Unclassified	-
Q15910	EZH2_HUMAN	726	Y	D	Unclassified	-
Q15910	EZH2_HUMAN	689	H	Y	Disease	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	685	R	H	Unclassified	A patient with chronic myelomonocytic leukemia
Q15910	EZH2_HUMAN	641	Y	C	Unclassified	A patient with diffuse large B-cell lymphoma
Q15910	EZH2_HUMAN	740	E	K	Unclassified	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	677	A	T	Disease	Weaver syndrome (WVS) [MIM:277590]
Q15910	EZH2_HUMAN	279	H	R	Disease	Weaver syndrome (WVS) [MIM:277590]
Q15911	ZFHX3_HUMAN	3374	A	V	Polymorphism	-
Q15911	ZFHX3_HUMAN	3421	P	A	Polymorphism	-
Q15911	ZFHX3_HUMAN	997	A	S	Polymorphism	-
Q15911	ZFHX3_HUMAN	460	E	Q	Polymorphism	-
Q15911	ZFHX3_HUMAN	72	S	A	Polymorphism	-
Q15911	ZFHX3_HUMAN	428	T	P	Polymorphism	-
Q15911	ZFHX3_HUMAN	146	S	G	Polymorphism	-
Q15911	ZFHX3_HUMAN	777	V	A	Polymorphism	-
Q15915	ZIC1_HUMAN	400	G	R	Disease	Craniosynostosis 6 (CRS6) [MIM:616602]
Q15915	ZIC1_HUMAN	414	T	A	Polymorphism	-
Q15928	ZN141_HUMAN	474	T	I	Disease	Polydactyly, postaxial A6 (PAPA6) [MIM:615226]
Q15928	ZN141_HUMAN	124	K	E	Polymorphism	-
Q15928	ZN141_HUMAN	358	K	N	Polymorphism	-
Q15928	ZN141_HUMAN	349	R	K	Polymorphism	-
Q15935	ZNF77_HUMAN	20	L	W	Polymorphism	-
Q15935	ZNF77_HUMAN	3	C	S	Polymorphism	-
Q15935	ZNF77_HUMAN	179	P	S	Polymorphism	-
Q15935	ZNF77_HUMAN	5	I	V	Polymorphism	-
Q15935	ZNF77_HUMAN	460	G	R	Polymorphism	-
Q15937	ZNF79_HUMAN	401	S	N	Polymorphism	-
Q15937	ZNF79_HUMAN	51	R	G	Polymorphism	-
Q15937	ZNF79_HUMAN	31	T	I	Polymorphism	-
Q15942	ZYX_HUMAN	223	H	L	Polymorphism	-
Q16082	HSPB2_HUMAN	111	G	S	Polymorphism	-
Q16099	GRIK4_HUMAN	824	M	T	Polymorphism	-
Q16099	GRIK4_HUMAN	528	V	I	Polymorphism	-
Q16134	ETFD_HUMAN	82	S	P	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	49	Y	C	Unclassified	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	138	L	R	Unclassified	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	590	K	E	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	483	P	L	Unclassified	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	94	H	R	Polymorphism	-
Q16134	ETFD_HUMAN	175	R	H	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	377	L	P	Unclassified	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	611	G	E	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	31	T	I	Polymorphism	-
Q16134	ETFD_HUMAN	346	H	R	Unclassified	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	127	L	H	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	16	F	C	Polymorphism	-
Q16134	ETFD_HUMAN	565	V	L	Unclassified	A colorectal cancer sample
Q16134	ETFD_HUMAN	262	L	F	Unclassified	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	456	P	T	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	452	R	K	Unclassified	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	218	D	N	Unclassified	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	84	A	T	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	334	L	P	Unclassified	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	222	Q	P	Unclassified	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	175	R	L	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	562	P	L	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	82	S	F	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	456	P	L	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16134	ETFD_HUMAN	112	H	Y	Disease	Glutaric aciduria 2C (GA2C) [MIM:231680]
Q16204	CCDC6_HUMAN	470	P	T	Polymorphism	-
Q16206	ENOX2_HUMAN	202	V	I	Polymorphism	-
Q16222	UAP1_HUMAN	418	P	H	Polymorphism	-
Q16236	NF2L2_HUMAN	268	V	M	Polymorphism	-
Q16236	NF2L2_HUMAN	79	E	K	Disease	Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744]
Q16236	NF2L2_HUMAN	99	S	P	Polymorphism	-
Q16236	NF2L2_HUMAN	81	G	S	Disease	Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744]
Q16236	NF2L2_HUMAN	43	R	Q	Polymorphism	-
Q16236	NF2L2_HUMAN	31	G	R	Disease	Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744]
Q16236	NF2L2_HUMAN	80	T	K	Disease	Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744]
Q16254	E2F4_HUMAN	293	T	P	Polymorphism	-
Q16270	IBP7_HUMAN	11	L	F	Polymorphism	-
Q16270	IBP7_HUMAN	95	K	R	Polymorphism	-
Q16270	IBP7_HUMAN	78	R	G	Polymorphism	-
Q16280	CNGA2_HUMAN	663	E	K	Polymorphism	-
Q16280	CNGA2_HUMAN	139	W	L	Polymorphism	-
Q16280	CNGA2_HUMAN	399	R	Q	Unclassified	A breast cancer sample
Q16280	CNGA2_HUMAN	118	D	H	Polymorphism	-
Q16280	CNGA2_HUMAN	97	R	H	Unclassified	A breast cancer sample
Q16281	CNGA3_HUMAN	436	R	Q	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	590	E	K	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	439	R	W	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	334	S	F	Disease	-
Q16281	CNGA3_HUMAN	513	G	E	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	593	E	K	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	198	E	K	Polymorphism	-
Q16281	CNGA3_HUMAN	274	R	K	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	646	R	H	Polymorphism	-
Q16281	CNGA3_HUMAN	485	D	V	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	247	T	M	Polymorphism	-
Q16281	CNGA3_HUMAN	427	R	C	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	258	P	R	Disease	-
Q16281	CNGA3_HUMAN	182	N	Y	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	322	F	S	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	335	W	C	Polymorphism	-
Q16281	CNGA3_HUMAN	181	Y	C	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	278	L	P	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	372	P	S	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	565	T	M	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	341	S	P	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	369	T	S	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	171	W	C	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	533	D	H	Disease	-
Q16281	CNGA3_HUMAN	548	G	R	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	330	F	S	Disease	-
Q16281	CNGA3_HUMAN	510	C	S	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	48	P	L	Polymorphism	-
Q16281	CNGA3_HUMAN	162	D	V	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	570	S	N	Disease	-
Q16281	CNGA3_HUMAN	120	N	D	Polymorphism	-
Q16281	CNGA3_HUMAN	267	G	D	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	525	G	D	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	469	A	T	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	516	G	E	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	224	T	I	Disease	-
Q16281	CNGA3_HUMAN	573	Y	C	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	194	E	K	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	471	N	S	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	563	R	H	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	223	R	Q	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	406	M	T	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	410	R	W	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	527	L	M	Unclassified	-
Q16281	CNGA3_HUMAN	436	R	W	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	522	I	T	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	291	T	R	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	163	P	L	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	323	A	D	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	529	V	M	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	557	G	R	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	547	F	L	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	283	R	W	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	569	R	H	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	260	D	N	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	283	R	Q	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	224	T	R	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	277	R	C	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	191	C	Y	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	401	S	P	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	228	E	K	Unclassified	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	153	T	M	Polymorphism	-
Q16281	CNGA3_HUMAN	263	Y	D	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	186	L	F	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	277	R	H	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	249	F	S	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	223	R	W	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281	CNGA3_HUMAN	380	F	S	Disease	Achromatopsia 2 (ACHM2) [MIM:216900]
Q16288	NTRK3_HUMAN	307	V	L	Unclassified	A lung adenocarcinoma sample
Q16288	NTRK3_HUMAN	735	R	F	Unclassified	A lung large cell carcinoma sample
Q16288	NTRK3_HUMAN	766	Y	F	Unclassified	A lung carcinoma sample
Q16288	NTRK3_HUMAN	93	T	M	Disease	-
Q16288	NTRK3_HUMAN	71	I	V	Unclassified	-
Q16288	NTRK3_HUMAN	336	L	Q	Unclassified	A lung adenocarcinoma sample
Q16288	NTRK3_HUMAN	21	V	F	Polymorphism	-
Q16288	NTRK3_HUMAN	768	K	R	Polymorphism	-
Q16288	NTRK3_HUMAN	781	E	K	Polymorphism	-
Q16288	NTRK3_HUMAN	149	T	R	Unclassified	A gastric adenocarcinoma sample
Q16288	NTRK3_HUMAN	533	I	F	Disease	-
Q16288	NTRK3_HUMAN	736	W	C	Unclassified	A lung carcinoma sample
Q16288	NTRK3_HUMAN	817	I	M	Disease	-
Q16288	NTRK3_HUMAN	306	R	C	Polymorphism	-
Q16288	NTRK3_HUMAN	678	R	Q	Polymorphism	-
Q16288	NTRK3_HUMAN	163	N	I	Unclassified	-
Q16288	NTRK3_HUMAN	664	A	S	Unclassified	A lung carcinoma sample
Q16288	NTRK3_HUMAN	677	H	Y	Unclassified	A lung adenocarcinoma sample
Q16288	NTRK3_HUMAN	745	R	P	Unclassified	A lung carcinoma sample
Q16322	KCA10_HUMAN	220	V	M	Polymorphism	-
Q16322	KCA10_HUMAN	200	R	H	Unclassified	A colorectal cancer sample
Q16322	KCA10_HUMAN	258	S	N	Polymorphism	-
Q16348	S15A2_HUMAN	409	P	S	Polymorphism	-
Q16348	S15A2_HUMAN	73	Y	C	Polymorphism	-
Q16348	S15A2_HUMAN	57	R	H	Polymorphism	-
Q16348	S15A2_HUMAN	509	R	K	Polymorphism	-
Q16348	S15A2_HUMAN	704	M	L	Polymorphism	-
Q16348	S15A2_HUMAN	609	A	G	Polymorphism	-
Q16348	S15A2_HUMAN	350	L	F	Polymorphism	-
Q16352	AINX_HUMAN	110	E	Q	Unclassified	A breast cancer sample
Q16352	AINX_HUMAN	149	D	H	Polymorphism	-
Q16352	AINX_HUMAN	92	T	S	Polymorphism	-
Q16363	LAMA4_HUMAN	1549	N	S	Polymorphism	-
Q16363	LAMA4_HUMAN	1117	G	S	Polymorphism	-
Q16363	LAMA4_HUMAN	498	Y	H	Polymorphism	-
Q16363	LAMA4_HUMAN	94	G	S	Polymorphism	-
Q16363	LAMA4_HUMAN	154	R	W	Polymorphism	-
Q16363	LAMA4_HUMAN	492	L	H	Polymorphism	-
Q16363	LAMA4_HUMAN	1815	V	I	Polymorphism	-
Q16363	LAMA4_HUMAN	283	A	E	Polymorphism	-
Q16363	LAMA4_HUMAN	950	P	L	Disease	Cardiomyopathy, dilated 1JJ (CMD1JJ) [MIM:615235]
Q16363	LAMA4_HUMAN	1119	P	R	Polymorphism	-
Q16378	PROL4_HUMAN	96	R	Q	Polymorphism	-
Q16378	PROL4_HUMAN	120	Q	R	Polymorphism	-
Q16394	EXT1_HUMAN	340	R	C	Disease	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
Q16394	EXT1_HUMAN	27	Q	K	Disease	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
Q16394	EXT1_HUMAN	496	P	L	Disease	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
Q16394	EXT1_HUMAN	280	R	G	Disease	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
Q16394	EXT1_HUMAN	280	R	S	Disease	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
Q16394	EXT1_HUMAN	340	R	L	Disease	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
Q16394	EXT1_HUMAN	316	N	S	Disease	Chondrosarcoma (CHDSA) [MIM:215300]
Q16394	EXT1_HUMAN	486	A	V	Disease	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
Q16394	EXT1_HUMAN	340	R	H	Disease	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
Q16394	EXT1_HUMAN	340	R	S	Disease	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
Q16394	EXT1_HUMAN	339	G	D	Disease	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
Q16394	EXT1_HUMAN	164	D	H	Disease	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
Q16401	PSMD5_HUMAN	72	L	H	Polymorphism	-
Q16401	PSMD5_HUMAN	21	E	G	Polymorphism	-
Q16445	GBRA6_HUMAN	404	P	S	Polymorphism	-
Q16445	GBRA6_HUMAN	187	T	M	Polymorphism	-
Q16445	GBRA6_HUMAN	180	P	H	Unclassified	A colorectal cancer sample
Q16512	PKN1_HUMAN	718	I	V	Polymorphism	-
Q16512	PKN1_HUMAN	873	F	L	Unclassified	A breast infiltrating ductal carcinoma sample
Q16512	PKN1_HUMAN	555	L	I	Polymorphism	-
Q16512	PKN1_HUMAN	901	V	I	Polymorphism	-
Q16512	PKN1_HUMAN	921	A	V	Unclassified	A colorectal adenocarcinoma sample
Q16512	PKN1_HUMAN	185	R	C	Unclassified	A metastatic melanoma sample
Q16512	PKN1_HUMAN	635	R	Q	Polymorphism	-
Q16512	PKN1_HUMAN	197	A	E	Polymorphism	-
Q16512	PKN1_HUMAN	436	R	W	Polymorphism	-
Q16512	PKN1_HUMAN	520	R	Q	Polymorphism	-
Q16513	PKN2_HUMAN	94	E	D	Polymorphism	-
Q16513	PKN2_HUMAN	655	Q	R	Polymorphism	-
Q16513	PKN2_HUMAN	197	A	E	Polymorphism	-
Q16515	ASIC2_HUMAN	354	D	G	Polymorphism	-
Q16518	RPE65_HUMAN	91	R	W	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	528	G	V	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	363	P	T	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	182	H	N	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	167	D	Y	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	294	K	T	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	436	G	V	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	102	E	K	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	44	R	Q	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	287	V	F	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	91	R	P	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	393	A	G	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	313	H	R	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	70	F	V	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	99	V	I	Unclassified	-
Q16518	RPE65_HUMAN	333	G	R	Unclassified	-
Q16518	RPE65_HUMAN	102	E	K	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	417	E	Q	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	239	Y	D	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	67	L	R	Unclassified	-
Q16518	RPE65_HUMAN	144	Y	D	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	341	L	S	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	473	V	D	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	368	Y	H	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	321	N	K	Polymorphism	-
Q16518	RPE65_HUMAN	393	A	E	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	435	Y	C	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	182	H	Y	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	70	F	V	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	91	R	Q	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	68	H	Y	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	431	Y	C	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	477	D	G	Unclassified	-
Q16518	RPE65_HUMAN	40	G	S	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	239	Y	D	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	85	R	H	Unclassified	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	95	E	Q	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	132	A	T	Unclassified	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	60	L	P	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	22	L	P	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	452	V	G	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	330	C	Y	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	167	D	Y	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	148	E	D	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	470	P	L	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	515	R	W	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	368	Y	C	Unclassified	-
Q16518	RPE65_HUMAN	79	Y	H	Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]
Q16518	RPE65_HUMAN	40	G	D	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16518	RPE65_HUMAN	434	A	V	Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]
Q16531	DDB1_HUMAN	427	L	F	Polymorphism	-
Q16534	HLF_HUMAN	253	I	F	Unclassified	-
Q16538	GP162_HUMAN	459	R	G	Polymorphism	-
Q16539	MK14_HUMAN	343	D	G	Polymorphism	-
Q16539	MK14_HUMAN	51	A	V	Unclassified	A gastric adenocarcinoma sample
Q16539	MK14_HUMAN	322	P	R	Unclassified	A lung adenocarcinoma sample
Q16540	RM23_HUMAN	11	R	Q	Polymorphism	-
Q16540	RM23_HUMAN	81	D	N	Polymorphism	-
Q16540	RM23_HUMAN	32	G	S	Polymorphism	-
Q16540	RM23_HUMAN	122	A	T	Polymorphism	-
Q16540	RM23_HUMAN	34	A	V	Polymorphism	-
Q16543	CDC37_HUMAN	360	G	E	Polymorphism	-
Q16548	B2LA1_HUMAN	39	N	K	Polymorphism	-
Q16548	B2LA1_HUMAN	19	C	Y	Polymorphism	-
Q16548	B2LA1_HUMAN	82	G	D	Polymorphism	-
Q16548	B2LA1_HUMAN	117	E	D	Polymorphism	-
Q16549	PCSK7_HUMAN	688	L	V	Polymorphism	-
Q16549	PCSK7_HUMAN	711	R	Q	Polymorphism	-
Q16549	PCSK7_HUMAN	700	R	M	Polymorphism	-
Q16549	PCSK7_HUMAN	708	H	Y	Polymorphism	-
Q16549	PCSK7_HUMAN	689	S	N	Polymorphism	-
Q16555	DPYL2_HUMAN	118	A	T	Polymorphism	-
Q16555	DPYL2_HUMAN	481	R	C	Unclassified	A colorectal cancer sample
Q16557	PSG3_HUMAN	290	I	N	Polymorphism	-
Q16557	PSG3_HUMAN	30	L	S	Polymorphism	-
Q16557	PSG3_HUMAN	198	N	T	Polymorphism	-
Q16557	PSG3_HUMAN	30	L	P	Polymorphism	-
Q16557	PSG3_HUMAN	199	K	N	Polymorphism	-
Q16557	PSG3_HUMAN	23	L	S	Polymorphism	-
Q16558	KCMB1_HUMAN	65	E	K	Polymorphism	-
Q16558	KCMB1_HUMAN	110	V	L	Polymorphism	-
Q16566	KCC4_HUMAN	465	Q	R	Polymorphism	-
Q16566	KCC4_HUMAN	150	E	G	Unclassified	A lung adenocarcinoma sample
Q16566	KCC4_HUMAN	178	D	N	Polymorphism	-
Q16566	KCC4_HUMAN	469	I	M	Unclassified	A lung large cell carcinoma sample
Q16568	CART_HUMAN	113	L	M	Polymorphism	-
Q16568	CART_HUMAN	66	S	T	Polymorphism	-
Q16568	CART_HUMAN	61	L	F	Polymorphism	-
Q16570	ACKR1_HUMAN	203	L	Q	Polymorphism	-
Q16570	ACKR1_HUMAN	42	G	D	Polymorphism	-
Q16570	ACKR1_HUMAN	89	R	C	Polymorphism	-
Q16570	ACKR1_HUMAN	326	S	F	Polymorphism	-
Q16570	ACKR1_HUMAN	100	A	T	Polymorphism	-
Q16572	VACHT_HUMAN	186	G	A	Disease	Myasthenic syndrome, congenital, 21, presynaptic (CMS21) [MIM:617239]
Q16572	VACHT_HUMAN	520	A	E	Polymorphism	-
Q16572	VACHT_HUMAN	398	D	H	Disease	Myasthenic syndrome, congenital, 21, presynaptic (CMS21) [MIM:617239]
Q16572	VACHT_HUMAN	11	R	Q	Polymorphism	-
Q16572	VACHT_HUMAN	29	R	W	Polymorphism	-
Q16572	VACHT_HUMAN	13	A	P	Polymorphism	-
Q16581	C3AR_HUMAN	136	V	A	Polymorphism	-
Q16584	M3K11_HUMAN	282	A	G	Polymorphism	-
Q16584	M3K11_HUMAN	252	P	H	Polymorphism	-
Q16584	M3K11_HUMAN	151	D	V	Polymorphism	-
Q16585	SGCB_HUMAN	139	G	D	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16585	SGCB_HUMAN	91	R	L	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16585	SGCB_HUMAN	108	L	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16585	SGCB_HUMAN	182	T	A	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16585	SGCB_HUMAN	91	R	P	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16585	SGCB_HUMAN	91	R	C	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16585	SGCB_HUMAN	184	Y	C	Disease	-
Q16585	SGCB_HUMAN	119	I	F	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16585	SGCB_HUMAN	151	T	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16585	SGCB_HUMAN	167	G	S	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16585	SGCB_HUMAN	100	M	K	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16585	SGCB_HUMAN	11	Q	E	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16585	SGCB_HUMAN	114	S	F	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
Q16586	SGCA_HUMAN	205	P	H	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	31	L	P	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	98	R	C	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	137	E	K	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	93	A	V	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	242	V	A	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	158	L	F	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	98	R	H	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	34	R	H	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	284	R	C	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	30	P	L	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	175	V	A	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	34	R	C	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	173	L	P	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	196	V	I	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	68	G	E	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	77	R	C	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	228	P	Q	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	74	R	W	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	97	D	G	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	91	G	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	89	L	P	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	76	L	F	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	124	I	T	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	62	Y	H	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	103	I	T	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	81	R	C	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	247	V	M	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16586	SGCA_HUMAN	137	E	G	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
Q16587	ZNF74_HUMAN	117	E	K	Polymorphism	-
Q16589	CCNG2_HUMAN	28	E	G	Polymorphism	-
Q16589	CCNG2_HUMAN	4	L	V	Polymorphism	-
Q16594	TAF9_HUMAN	210	Q	H	Polymorphism	-
Q16594	TAF9_HUMAN	6	T	M	Polymorphism	-
Q16595	FRDA_HUMAN	154	I	F	Disease	Friedreich ataxia (FRDA) [MIM:229300]
Q16595	FRDA_HUMAN	130	G	V	Disease	Friedreich ataxia (FRDA) [MIM:229300]
Q16595	FRDA_HUMAN	106	L	S	Disease	Friedreich ataxia (FRDA) [MIM:229300]
Q16595	FRDA_HUMAN	155	W	R	Disease	Friedreich ataxia (FRDA) [MIM:229300]
Q16595	FRDA_HUMAN	202	S	C	Polymorphism	-
Q16595	FRDA_HUMAN	198	L	R	Disease	Friedreich ataxia (FRDA) [MIM:229300]
Q16595	FRDA_HUMAN	182	L	F	Disease	Friedreich ataxia (FRDA) [MIM:229300]
Q16595	FRDA_HUMAN	122	D	Y	Disease	Friedreich ataxia (FRDA) [MIM:229300]
Q16595	FRDA_HUMAN	165	R	C	Disease	Friedreich ataxia (FRDA) [MIM:229300]
Q16600	ZN239_HUMAN	172	A	G	Polymorphism	-
Q16600	ZN239_HUMAN	209	C	G	Polymorphism	-
Q16600	ZN239_HUMAN	266	D	E	Polymorphism	-
Q16602	CALRL_HUMAN	274	R	I	Polymorphism	-
Q16602	CALRL_HUMAN	8	N	Y	Polymorphism	-
Q16602	CALRL_HUMAN	16	F	L	Polymorphism	-
Q16609	LPAL2_HUMAN	91	T	M	Polymorphism	-
Q16610	ECM1_HUMAN	167	F	I	Disease	Lipoid proteinosis (LiP) [MIM:247100]
Q16610	ECM1_HUMAN	130	T	M	Polymorphism	-
Q16610	ECM1_HUMAN	528	G	R	Polymorphism	-
Q16610	ECM1_HUMAN	535	S	F	Polymorphism	-
Q16610	ECM1_HUMAN	415	G	S	Polymorphism	-
Q16611	BAK_HUMAN	69	S	R	Polymorphism	-
Q16611	BAK_HUMAN	28	A	V	Polymorphism	-
Q16611	BAK_HUMAN	42	R	H	Polymorphism	-
Q16612	NREP_HUMAN	43	E	G	Polymorphism	-
Q16613	SNAT_HUMAN	129	A	T	Unclassified	-
Q16613	SNAT_HUMAN	15	R	C	Polymorphism	-
Q16619	CTF1_HUMAN	92	A	T	Polymorphism	-
Q16620	NTRK2_HUMAN	309	G	R	Polymorphism	-
Q16620	NTRK2_HUMAN	718	R	C	Unclassified	A lung carcinoma sample
Q16620	NTRK2_HUMAN	704	T	I	Unclassified	Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886]
Q16620	NTRK2_HUMAN	338	N	Y	Polymorphism	-
Q16620	NTRK2_HUMAN	545	G	V	Polymorphism	-
Q16620	NTRK2_HUMAN	434	Y	C	Unclassified	Epileptic encephalopathy, early infantile, 58 (EIEE58) [MIM:617830]
Q16620	NTRK2_HUMAN	138	L	F	Unclassified	A lung adenocarcinoma sample
Q16620	NTRK2_HUMAN	697	M	I	Unclassified	A lung carcinoma sample
Q16620	NTRK2_HUMAN	699	R	G	Unclassified	A lung carcinoma sample
Q16620	NTRK2_HUMAN	706	Y	C	Disease	Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886]
Q16625	OCLN_HUMAN	219	F	S	Disease	Pseudo-TORCH syndrome 1 (PTORCH1) [MIM:251290]
Q16626	MEA1_HUMAN	183	A	D	Polymorphism	-
Q16627	CCL14_HUMAN	61	K	E	Polymorphism	-
Q16633	OBF1_HUMAN	141	T	A	Polymorphism	-
Q16633	OBF1_HUMAN	194	Q	R	Polymorphism	-
Q16635	TAZ_HUMAN	94	R	S	Disease	Barth syndrome (BTHS) [MIM:302060]
Q16635	TAZ_HUMAN	197	G	R	Disease	Barth syndrome (BTHS) [MIM:302060]
Q16635	TAZ_HUMAN	118	C	R	Disease	Barth syndrome (BTHS) [MIM:302060]
Q16635	TAZ_HUMAN	240	G	R	Disease	Barth syndrome (BTHS) [MIM:302060]
Q16637	SMN_HUMAN	95	G	R	Disease	Spinal muscular atrophy 3 (SMA3) [MIM:253400]
Q16637	SMN_HUMAN	279	G	C	Disease	Spinal muscular atrophy 2 (SMA2) [MIM:253550]
Q16637	SMN_HUMAN	111	A	G	Disease	Spinal muscular atrophy 2 (SMA2) [MIM:253550]
Q16637	SMN_HUMAN	274	T	I	Disease	Spinal muscular atrophy 2 (SMA2) [MIM:253550]
Q16637	SMN_HUMAN	279	G	V	Disease	Spinal muscular atrophy 1 (SMA1) [MIM:253300]
Q16637	SMN_HUMAN	2	A	G	Disease	Spinal muscular atrophy 3 (SMA3) [MIM:253400]
Q16637	SMN_HUMAN	272	Y	C	Disease	Spinal muscular atrophy 1 (SMA1) [MIM:253300]
Q16637	SMN_HUMAN	279	G	C	Disease	Spinal muscular atrophy 3 (SMA3) [MIM:253400]
Q16637	SMN_HUMAN	2	A	G	Disease	Spinal muscular atrophy 2 (SMA2) [MIM:253550]
Q16637	SMN_HUMAN	116	I	F	Disease	Spinal muscular atrophy 1 (SMA1) [MIM:253300]
Q16637	SMN_HUMAN	245	P	L	Disease	Spinal muscular atrophy 3 (SMA3) [MIM:253400]
Q16637	SMN_HUMAN	274	T	I	Disease	Spinal muscular atrophy 3 (SMA3) [MIM:253400]
Q16637	SMN_HUMAN	262	S	G	Disease	Spinal muscular atrophy 3 (SMA3) [MIM:253400]
Q16637	SMN_HUMAN	30	D	N	Disease	Spinal muscular atrophy 2 (SMA2) [MIM:253550]
Q16637	SMN_HUMAN	275	G	S	Disease	Spinal muscular atrophy 3 (SMA3) [MIM:253400]
Q16637	SMN_HUMAN	44	D	V	Disease	Spinal muscular atrophy 3 (SMA3) [MIM:253400]
Q16637	SMN_HUMAN	262	S	I	Disease	Spinal muscular atrophy 3 (SMA3) [MIM:253400]
Q16637	SMN_HUMAN	136	Q	E	Disease	Spinal muscular atrophy 1 (SMA1) [MIM:253300]
Q16643	DREB_HUMAN	553	S	P	Polymorphism	-
Q16643	DREB_HUMAN	640	E	Q	Unclassified	A breast cancer sample
Q16643	DREB_HUMAN	446	I	V	Polymorphism	-
Q16643	DREB_HUMAN	278	E	K	Unclassified	A breast cancer sample
Q16644	MAPK3_HUMAN	173	L	P	Disease	Macular dystrophy, patterned, 3 (MDPT3) [MIM:617111]
Q16644	MAPK3_HUMAN	276	D	Y	Polymorphism	-
Q16644	MAPK3_HUMAN	105	E	A	Unclassified	-
Q16644	MAPK3_HUMAN	28	P	S	Unclassified	A glioblastoma multiforme sample
Q16647	PTGIS_HUMAN	500	P	S	Polymorphism	-
Q16647	PTGIS_HUMAN	379	R	S	Polymorphism	-
Q16647	PTGIS_HUMAN	118	S	R	Polymorphism	-
Q16647	PTGIS_HUMAN	38	P	L	Polymorphism	-
Q16647	PTGIS_HUMAN	154	E	A	Polymorphism	-
Q16647	PTGIS_HUMAN	236	R	C	Polymorphism	-
Q16647	PTGIS_HUMAN	171	F	L	Polymorphism	-
Q16647	PTGIS_HUMAN	447	A	T	Polymorphism	-
Q16650	TBR1_HUMAN	271	W	R	Disease	Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053]
Q16650	TBR1_HUMAN	542	P	R	Unclassified	Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053]
Q16650	TBR1_HUMAN	289	H	Q	Polymorphism	-
Q16650	TBR1_HUMAN	178	Q	E	Unclassified	Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053]
Q16650	TBR1_HUMAN	389	K	E	Disease	Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053]
Q16650	TBR1_HUMAN	356	V	M	Unclassified	Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053]
Q16650	TBR1_HUMAN	271	W	C	Disease	Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053]
Q16650	TBR1_HUMAN	418	Q	R	Unclassified	Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053]
Q16650	TBR1_HUMAN	374	N	H	Disease	Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053]
Q16650	TBR1_HUMAN	228	K	E	Disease	Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053]
Q16653	MOG_HUMAN	174	I	V	Polymorphism	-
Q16653	MOG_HUMAN	133	S	C	Disease	Narcolepsy 7 (NRCLP7) [MIM:614250]
Q16653	MOG_HUMAN	171	V	L	Polymorphism	-
Q16654	PDK4_HUMAN	109	D	G	Polymorphism	-
Q16654	PDK4_HUMAN	17	A	V	Polymorphism	-
Q16654	PDK4_HUMAN	19	L	M	Polymorphism	-
Q16659	MK06_HUMAN	290	L	V	Polymorphism	-
Q16661	GUC2B_HUMAN	11	P	T	Polymorphism	-
Q16663	CCL15_HUMAN	24	I	T	Polymorphism	-
Q16665	HIF1A_HUMAN	796	T	A	Polymorphism	-
Q16665	HIF1A_HUMAN	588	A	T	Polymorphism	-
Q16665	HIF1A_HUMAN	582	P	S	Polymorphism	-
Q16666	IF16_HUMAN	413	Y	N	Polymorphism	-
Q16666	IF16_HUMAN	723	T	S	Polymorphism	-
Q16666	IF16_HUMAN	179	S	T	Polymorphism	-
Q16666	IF16_HUMAN	103	D	H	Polymorphism	-
Q16666	IF16_HUMAN	779	T	S	Polymorphism	-
Q16666	IF16_HUMAN	202	K	E	Polymorphism	-
Q16666	IF16_HUMAN	409	R	S	Polymorphism	-
Q16667	CDKN3_HUMAN	79	C	Y	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q16667	CDKN3_HUMAN	108	I	V	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q16667	CDKN3_HUMAN	95	L	F	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q16667	CDKN3_HUMAN	195	K	I	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q16667	CDKN3_HUMAN	78	F	L	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q16667	CDKN3_HUMAN	31	W	R	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q16667	CDKN3_HUMAN	187	N	S	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q16667	CDKN3_HUMAN	159	S	F	Polymorphism	-
Q16667	CDKN3_HUMAN	94	D	V	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q16667	CDKN3_HUMAN	91	N	K	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q16670	ZSC26_HUMAN	83	E	K	Polymorphism	-
Q16670	ZSC26_HUMAN	59	Y	C	Polymorphism	-
Q16670	ZSC26_HUMAN	220	R	S	Polymorphism	-
Q16670	ZSC26_HUMAN	73	R	Q	Polymorphism	-
Q16671	AMHR2_HUMAN	458	V	A	Disease	Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671	AMHR2_HUMAN	504	R	C	Disease	Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671	AMHR2_HUMAN	142	G	V	Disease	Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671	AMHR2_HUMAN	319	R	H	Polymorphism	-
Q16671	AMHR2_HUMAN	406	R	Q	Disease	Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671	AMHR2_HUMAN	282	H	Q	Disease	Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671	AMHR2_HUMAN	54	R	C	Disease	Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671	AMHR2_HUMAN	491	D	H	Disease	Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671	AMHR2_HUMAN	426	D	G	Disease	Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16676	FOXD1_HUMAN	356	A	G	Polymorphism	-
Q16676	FOXD1_HUMAN	442	A	S	Polymorphism	-
Q16676	FOXD1_HUMAN	437	V	I	Polymorphism	-
Q16676	FOXD1_HUMAN	396	P	L	Polymorphism	-
Q16676	FOXD1_HUMAN	364	I	M	Polymorphism	-
Q16676	FOXD1_HUMAN	352	P	R	Polymorphism	-
Q16676	FOXD1_HUMAN	336	A	V	Polymorphism	-
Q16676	FOXD1_HUMAN	326	A	T	Polymorphism	-
Q16676	FOXD1_HUMAN	55	R	P	Polymorphism	-
Q16676	FOXD1_HUMAN	228	P	L	Polymorphism	-
Q16676	FOXD1_HUMAN	88	A	G	Polymorphism	-
Q16678	CP1B1_HUMAN	28	S	W	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	52	P	L	Polymorphism	-
Q16678	CP1B1_HUMAN	57	W	C	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	81	Y	N	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	77	L	P	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	132	M	R	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	184	G	S	Polymorphism	-
Q16678	CP1B1_HUMAN	515	S	L	Unclassified	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	144	Q	P	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	432	L	V	Polymorphism	-
Q16678	CP1B1_HUMAN	388	A	T	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	364	V	M	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	523	R	T	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	518	V	A	Polymorphism	-
Q16678	CP1B1_HUMAN	145	R	W	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	206	S	N	Polymorphism	-
Q16678	CP1B1_HUMAN	203	N	S	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	449	D	E	Polymorphism	-
Q16678	CP1B1_HUMAN	365	G	W	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	443	A	G	Unclassified	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	61	G	E	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	144	Q	R	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	119	A	S	Polymorphism	-
Q16678	CP1B1_HUMAN	368	R	H	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	374	D	N	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	115	A	P	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	232	G	R	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	266	R	L	Polymorphism	-
Q16678	CP1B1_HUMAN	368	R	H	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q16678	CP1B1_HUMAN	345	L	F	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	198	V	I	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	441	D	H	Polymorphism	-
Q16678	CP1B1_HUMAN	379	P	L	Polymorphism	-
Q16678	CP1B1_HUMAN	48	R	G	Polymorphism	-
Q16678	CP1B1_HUMAN	390	R	C	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	330	A	S	Polymorphism	-
Q16678	CP1B1_HUMAN	453	N	S	Polymorphism	-
Q16678	CP1B1_HUMAN	422	V	G	Polymorphism	-
Q16678	CP1B1_HUMAN	144	Q	H	Polymorphism	-
Q16678	CP1B1_HUMAN	390	R	S	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	399	I	S	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	215	S	I	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	437	P	L	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	387	E	K	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	469	R	W	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	423	N	Y	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	192	D	V	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	193	P	L	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	229	E	K	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	330	A	F	Unclassified	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	320	V	L	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	499	E	G	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	390	R	H	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	239	S	R	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	445	F	C	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	466	G	D	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	189	A	P	Polymorphism	-
Q16678	CP1B1_HUMAN	530	D	G	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	444	R	Q	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16678	CP1B1_HUMAN	68	Q	R	Polymorphism	-
Q16678	CP1B1_HUMAN	409	V	F	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q16690	DUS5_HUMAN	220	A	T	Polymorphism	-
Q16690	DUS5_HUMAN	322	P	L	Polymorphism	-
Q16690	DUS5_HUMAN	220	A	V	Polymorphism	-
Q16690	DUS5_HUMAN	154	E	D	Polymorphism	-
Q16696	CP2AD_HUMAN	494	R	C	Polymorphism	-
Q16696	CP2AD_HUMAN	257	R	C	Polymorphism	-
Q16696	CP2AD_HUMAN	323	V	L	Polymorphism	-
Q16696	CP2AD_HUMAN	101	R	Q	Polymorphism	-
Q16696	CP2AD_HUMAN	158	D	E	Polymorphism	-
Q16696	CP2AD_HUMAN	453	F	Y	Polymorphism	-
Q16696	CP2AD_HUMAN	25	R	Q	Polymorphism	-
Q16698	DECR_HUMAN	333	K	N	Polymorphism	-
Q16706	MA2A1_HUMAN	1012	L	V	Polymorphism	-
Q16719	KYNU_HUMAN	198	T	A	Disease	Hydroxykynureninuria (HYXKY) [MIM:236800]
Q16719	KYNU_HUMAN	412	K	E	Polymorphism	-
Q16719	KYNU_HUMAN	188	R	Q	Polymorphism	-
Q16720	AT2B3_HUMAN	1107	G	D	Disease	Spinocerebellar ataxia, X-linked 1 (SCAX1) [MIM:302500]
Q16720	AT2B3_HUMAN	198	I	M	Polymorphism	-
Q16740	CLPP_HUMAN	147	C	S	Disease	Perrault syndrome 3 (PRLTS3) [MIM:614129]
Q16740	CLPP_HUMAN	229	Y	D	Disease	Perrault syndrome 3 (PRLTS3) [MIM:614129]
Q16740	CLPP_HUMAN	145	T	P	Disease	Perrault syndrome 3 (PRLTS3) [MIM:614129]
Q16762	THTR_HUMAN	102	E	D	Polymorphism	-
Q16762	THTR_HUMAN	228	E	G	Polymorphism	-
Q16769	QPCT_HUMAN	71	Q	R	Polymorphism	-
Q16769	QPCT_HUMAN	360	H	P	Polymorphism	-
Q16769	QPCT_HUMAN	54	R	W	Polymorphism	-
Q16772	GSTA3_HUMAN	36	G	E	Polymorphism	-
Q16772	GSTA3_HUMAN	113	R	Q	Polymorphism	-
Q16772	GSTA3_HUMAN	208	A	T	Polymorphism	-
Q16772	GSTA3_HUMAN	71	I	L	Polymorphism	-
Q16772	GSTA3_HUMAN	73	N	D	Polymorphism	-
Q16787	LAMA3_HUMAN	2834	S	G	Polymorphism	-
Q16787	LAMA3_HUMAN	1206	V	A	Polymorphism	-
Q16787	LAMA3_HUMAN	1774	F	L	Polymorphism	-
Q16787	LAMA3_HUMAN	1208	P	T	Polymorphism	-
Q16787	LAMA3_HUMAN	796	T	N	Polymorphism	-
Q16787	LAMA3_HUMAN	2815	N	K	Polymorphism	-
Q16787	LAMA3_HUMAN	2702	T	A	Polymorphism	-
Q16790	CAH9_HUMAN	326	Q	R	Polymorphism	-
Q16790	CAH9_HUMAN	33	V	M	Polymorphism	-
Q16795	NDUA9_HUMAN	321	R	P	Disease	Mitochondrial complex I deficiency, nuclear type 26 (MC1DN26) [MIM:618247]
Q16795	NDUA9_HUMAN	360	R	C	Disease	Mitochondrial complex I deficiency, nuclear type 26 (MC1DN26) [MIM:618247]
Q16798	MAON_HUMAN	85	S	G	Polymorphism	-
Q16798	MAON_HUMAN	324	K	N	Polymorphism	-
Q16799	RTN1_HUMAN	357	I	V	Polymorphism	-
Q16799	RTN1_HUMAN	247	G	E	Polymorphism	-
Q16816	PHKG1_HUMAN	48	V	M	Unclassified	A colorectal adenocarcinoma sample
Q16816	PHKG1_HUMAN	323	R	C	Polymorphism	-
Q16819	MEP1A_HUMAN	726	T	M	Polymorphism	-
Q16819	MEP1A_HUMAN	634	M	V	Polymorphism	-
Q16819	MEP1A_HUMAN	476	R	G	Polymorphism	-
Q16819	MEP1A_HUMAN	606	T	S	Polymorphism	-
Q16819	MEP1A_HUMAN	469	V	L	Polymorphism	-
Q16820	MEP1B_HUMAN	324	T	A	Polymorphism	-
Q16820	MEP1B_HUMAN	695	P	L	Polymorphism	-
Q16820	MEP1B_HUMAN	326	V	M	Polymorphism	-
Q16821	PPR3A_HUMAN	476	N	K	Polymorphism	-
Q16821	PPR3A_HUMAN	627	R	K	Polymorphism	-
Q16821	PPR3A_HUMAN	231	C	Y	Polymorphism	-
Q16821	PPR3A_HUMAN	883	R	S	Polymorphism	-
Q16821	PPR3A_HUMAN	554	G	A	Unclassified	A breast cancer sample
Q16821	PPR3A_HUMAN	931	A	E	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
Q16821	PPR3A_HUMAN	451	V	M	Polymorphism	-
Q16821	PPR3A_HUMAN	45	G	S	Polymorphism	-
Q16821	PPR3A_HUMAN	882	L	H	Polymorphism	-
Q16821	PPR3A_HUMAN	748	E	K	Polymorphism	-
Q16821	PPR3A_HUMAN	905	D	Y	Polymorphism	-
Q16822	PCKGM_HUMAN	31	R	Q	Polymorphism	-
Q16822	PCKGM_HUMAN	521	R	H	Polymorphism	-
Q16822	PCKGM_HUMAN	64	D	N	Polymorphism	-
Q16822	PCKGM_HUMAN	406	G	S	Polymorphism	-
Q16825	PTN21_HUMAN	385	L	F	Polymorphism	-
Q16825	PTN21_HUMAN	936	V	A	Polymorphism	-
Q16825	PTN21_HUMAN	906	K	N	Polymorphism	-
Q16828	DUS6_HUMAN	114	V	L	Polymorphism	-
Q16828	DUS6_HUMAN	144	S	A	Polymorphism	-
Q16828	DUS6_HUMAN	77	F	I	Disease	Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]
Q16828	DUS6_HUMAN	313	N	I	Polymorphism	-
Q16828	DUS6_HUMAN	189	N	S	Disease	Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]
Q16828	DUS6_HUMAN	346	T	M	Disease	Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]
Q16828	DUS6_HUMAN	182	S	F	Disease	Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]
Q16829	DUS7_HUMAN	235	S	N	Polymorphism	-
Q16832	DDR2_HUMAN	713	T	I	Disease	Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
Q16832	DDR2_HUMAN	610	L	P	Disease	Warburg-Cinotti syndrome (WRCN) [MIM:618175]
Q16832	DDR2_HUMAN	113	E	K	Disease	Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
Q16832	DDR2_HUMAN	105	R	S	Unclassified	A lung large cell carcinoma sample
Q16832	DDR2_HUMAN	441	M	I	Polymorphism	-
Q16832	DDR2_HUMAN	726	I	R	Disease	Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
Q16832	DDR2_HUMAN	478	R	C	Polymorphism	-
Q16832	DDR2_HUMAN	752	R	C	Disease	Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
Q16832	DDR2_HUMAN	543	V	F	Polymorphism	-
Q16832	DDR2_HUMAN	740	Y	C	Disease	Warburg-Cinotti syndrome (WRCN) [MIM:618175]
Q16832	DDR2_HUMAN	124	R	W	Disease	Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
Q16836	HCDH_HUMAN	40	A	T	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
Q16836	HCDH_HUMAN	152	Q	H	Polymorphism	-
Q16836	HCDH_HUMAN	86	L	P	Polymorphism	-
Q16836	HCDH_HUMAN	258	P	L	Disease	Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975]
Q16836	HCDH_HUMAN	57	D	E	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
Q16849	PTPRN_HUMAN	419	S	R	Polymorphism	-
Q16850	CP51A_HUMAN	13	V	A	Polymorphism	-
Q16851	UGPA_HUMAN	268	M	I	Polymorphism	-
Q16853	AOC3_HUMAN	317	Y	H	Polymorphism	-
Q16853	AOC3_HUMAN	171	V	M	Polymorphism	-
Q16853	AOC3_HUMAN	700	G	S	Polymorphism	-
Q16853	AOC3_HUMAN	329	R	Q	Polymorphism	-
Q16853	AOC3_HUMAN	408	A	S	Polymorphism	-
Q16853	AOC3_HUMAN	5	T	R	Polymorphism	-
Q16853	AOC3_HUMAN	203	H	R	Polymorphism	-
Q16853	AOC3_HUMAN	441	R	W	Polymorphism	-
Q16853	AOC3_HUMAN	78	R	Q	Polymorphism	-
Q16853	AOC3_HUMAN	426	R	H	Polymorphism	-
Q16853	AOC3_HUMAN	749	A	V	Polymorphism	-
Q16853	AOC3_HUMAN	582	A	T	Polymorphism	-
Q16853	AOC3_HUMAN	167	H	Y	Polymorphism	-
Q16853	AOC3_HUMAN	371	I	T	Polymorphism	-
Q16854	DGUOK_HUMAN	154	N	K	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]
Q16854	DGUOK_HUMAN	227	E	K	Disease	Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
Q16854	DGUOK_HUMAN	170	Q	R	Unclassified	-
Q16854	DGUOK_HUMAN	142	R	K	Disease	Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
Q16854	DGUOK_HUMAN	44	E	K	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]
Q16854	DGUOK_HUMAN	266	L	R	Polymorphism	-
Q16854	DGUOK_HUMAN	250	L	S	Disease	Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
Q16854	DGUOK_HUMAN	46	N	S	Disease	Portal hypertension, non-cirrhotic (NCPH) [MIM:617068]
Q16864	VATF_HUMAN	24	G	V	Polymorphism	-
Q16873	LTC4S_HUMAN	142	R	Q	Polymorphism	-
Q16877	F264_HUMAN	181	N	K	Unclassified	A breast cancer sample
Q16878	CDO1_HUMAN	45	T	I	Polymorphism	-
Q16878	CDO1_HUMAN	143	E	Q	Unclassified	A colorectal cancer sample
Q16880	CGT_HUMAN	226	P	L	Polymorphism	-
Q16880	CGT_HUMAN	368	I	M	Polymorphism	-
Q16881	TRXR1_HUMAN	365	D	G	Polymorphism	-
Q16890	TPD53_HUMAN	62	R	K	Polymorphism	-
Q16891	MIC60_HUMAN	124	P	S	Polymorphism	-
Q16891	MIC60_HUMAN	294	A	V	Polymorphism	-
Q17R55	F187B_HUMAN	160	C	R	Polymorphism	-
Q17R55	F187B_HUMAN	216	V	I	Polymorphism	-
Q17R55	F187B_HUMAN	3	P	S	Polymorphism	-
Q17R60	IMPG1_HUMAN	711	R	H	Polymorphism	-
Q17R60	IMPG1_HUMAN	463	G	V	Polymorphism	-
Q17R60	IMPG1_HUMAN	569	K	R	Polymorphism	-
Q17R60	IMPG1_HUMAN	238	L	R	Disease	Macular dystrophy, vitelliform, 4 (VMD4) [MIM:616151]
Q17R60	IMPG1_HUMAN	704	R	W	Polymorphism	-
Q17R60	IMPG1_HUMAN	518	H	D	Polymorphism	-
Q17R60	IMPG1_HUMAN	761	S	N	Polymorphism	-
Q17R60	IMPG1_HUMAN	579	L	P	Unclassified	-
Q17R60	IMPG1_HUMAN	154	L	P	Disease	Macular dystrophy, vitelliform, 4 (VMD4) [MIM:616151]
Q17R89	RHG44_HUMAN	463	V	M	Polymorphism	-
Q17RB8	LONF1_HUMAN	265	I	L	Polymorphism	-
Q17RC7	EX3L4_HUMAN	93	D	E	Polymorphism	-
Q17RC7	EX3L4_HUMAN	77	R	W	Polymorphism	-
Q17RC7	EX3L4_HUMAN	675	Q	R	Polymorphism	-
Q17RC7	EX3L4_HUMAN	185	L	H	Polymorphism	-
Q17RC7	EX3L4_HUMAN	685	Q	E	Polymorphism	-
Q17RD7	SYT16_HUMAN	131	R	L	Polymorphism	-
Q17RD7	SYT16_HUMAN	10	V	A	Polymorphism	-
Q17RF5	ODAPH_HUMAN	109	R	H	Polymorphism	-
Q17RF5	ODAPH_HUMAN	30	P	L	Polymorphism	-
Q17RG1	KCD19_HUMAN	750	E	K	Polymorphism	-
Q17RM4	CC142_HUMAN	534	R	Q	Polymorphism	-
Q17RN3	FA98C_HUMAN	240	T	K	Polymorphism	-
Q17RP2	TIGD6_HUMAN	327	Q	R	Polymorphism	-
Q17RP2	TIGD6_HUMAN	59	R	W	Polymorphism	-
Q17RQ9	NKPD1_HUMAN	118	V	L	Polymorphism	-
Q17RR3	LIPR3_HUMAN	450	F	Y	Polymorphism	-
Q17RR3	LIPR3_HUMAN	332	F	L	Polymorphism	-
Q17RR3	LIPR3_HUMAN	2	L	F	Polymorphism	-
Q17RR3	LIPR3_HUMAN	382	R	G	Polymorphism	-
Q17RR3	LIPR3_HUMAN	381	V	I	Polymorphism	-
Q17RS7	GEN_HUMAN	680	T	I	Polymorphism	-
Q17RS7	GEN_HUMAN	92	S	T	Polymorphism	-
Q17RS7	GEN_HUMAN	766	C	R	Unclassified	-
Q17RS7	GEN_HUMAN	143	N	S	Polymorphism	-
Q17RS7	GEN_HUMAN	203	I	V	Polymorphism	-
Q17RS7	GEN_HUMAN	898	R	C	Polymorphism	-
Q17RS7	GEN_HUMAN	275	R	L	Unclassified	A breast cancer sample
Q17RS7	GEN_HUMAN	310	S	N	Polymorphism	-
Q17RW2	COOA1_HUMAN	61	A	V	Polymorphism	-
Q17RW2	COOA1_HUMAN	481	M	L	Polymorphism	-
Q17RW2	COOA1_HUMAN	293	I	T	Polymorphism	-
Q17RW2	COOA1_HUMAN	1423	G	R	Polymorphism	-
Q17RW2	COOA1_HUMAN	151	P	L	Polymorphism	-
Q17RW2	COOA1_HUMAN	546	P	S	Polymorphism	-
Q17RW2	COOA1_HUMAN	731	P	S	Polymorphism	-
Q17RW2	COOA1_HUMAN	641	R	H	Polymorphism	-
Q18PE1	DOK7_HUMAN	31	P	T	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	99	A	V	Polymorphism	-
Q18PE1	DOK7_HUMAN	427	G	D	Polymorphism	-
Q18PE1	DOK7_HUMAN	166	G	R	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	45	S	L	Polymorphism	-
Q18PE1	DOK7_HUMAN	146	P	L	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	451	R	W	Polymorphism	-
Q18PE1	DOK7_HUMAN	382	E	K	Polymorphism	-
Q18PE1	DOK7_HUMAN	158	R	Q	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	272	H	Q	Polymorphism	-
Q18PE1	DOK7_HUMAN	415	P	S	Polymorphism	-
Q18PE1	DOK7_HUMAN	33	A	V	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	503	P	T	Polymorphism	-
Q18PE1	DOK7_HUMAN	461	G	D	Polymorphism	-
Q18PE1	DOK7_HUMAN	197	D	N	Polymorphism	-
Q18PE1	DOK7_HUMAN	3	E	K	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	77	T	M	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	172	G	R	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	296	Q	R	Polymorphism	-
Q18PE1	DOK7_HUMAN	157	L	R	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	180	G	A	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	379	G	R	Polymorphism	-
Q18PE1	DOK7_HUMAN	109	G	C	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	139	V	L	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	116	V	M	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	132	H	Q	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	261	R	H	Polymorphism	-
Q18PE1	DOK7_HUMAN	402	R	Q	Polymorphism	-
Q18PE1	DOK7_HUMAN	171	G	D	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	469	P	H	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	323	R	C	Polymorphism	-
Q18PE1	DOK7_HUMAN	440	A	T	Polymorphism	-
Q18PE1	DOK7_HUMAN	161	G	R	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	171	G	R	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q18PE1	DOK7_HUMAN	180	G	V	Disease	Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
Q1AE95	T183B_HUMAN	193	M	V	Polymorphism	-
Q1ED39	KNOP1_HUMAN	266	A	V	Polymorphism	-
Q1ED39	KNOP1_HUMAN	28	R	Q	Polymorphism	-
Q1ED39	KNOP1_HUMAN	276	V	A	Polymorphism	-
Q1EHB4	SC5AC_HUMAN	510	V	L	Polymorphism	-
Q1HG43	DOXA1_HUMAN	313	S	G	Polymorphism	-
Q1HG43	DOXA1_HUMAN	19	P	L	Polymorphism	-
Q1HG44	DOXA2_HUMAN	26	I	M	Unclassified	Thyroid dyshormonogenesis 5 (TDH5) [MIM:274900]
Q1HG44	DOXA2_HUMAN	100	R	G	Polymorphism	-
Q1L5Z9	LONF2_HUMAN	426	L	P	Polymorphism	-
Q1L5Z9	LONF2_HUMAN	562	R	W	Unclassified	A colorectal cancer sample
Q1L5Z9	LONF2_HUMAN	183	L	P	Polymorphism	-
Q1L6U9	MSMP_HUMAN	116	G	V	Polymorphism	-
Q1MSJ5	CSPP1_HUMAN	907	R	H	Polymorphism	-
Q1MSJ5	CSPP1_HUMAN	1135	W	R	Polymorphism	-
Q1MX18	INSC_HUMAN	450	Q	R	Polymorphism	-
Q1MX18	INSC_HUMAN	333	D	N	Polymorphism	-
Q1X8D7	LRC36_HUMAN	744	S	G	Polymorphism	-
Q1X8D7	LRC36_HUMAN	509	G	S	Polymorphism	-
Q1X8D7	LRC36_HUMAN	222	R	P	Polymorphism	-
Q1ZYL8	IZUM4_HUMAN	137	Y	F	Polymorphism	-
Q1ZYL8	IZUM4_HUMAN	38	F	L	Polymorphism	-
Q1ZYL8	IZUM4_HUMAN	2	A	T	Polymorphism	-
Q24JP5	T132A_HUMAN	969	A	V	Polymorphism	-
Q24JP5	T132A_HUMAN	699	R	H	Polymorphism	-
Q24JQ0	TM241_HUMAN	131	L	F	Polymorphism	-
Q27J81	INF2_HUMAN	128	L	P	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
Q27J81	INF2_HUMAN	77	L	R	Unclassified	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
Q27J81	INF2_HUMAN	151	C	R	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	114	G	D	Polymorphism	-
Q27J81	INF2_HUMAN	132	L	R	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
Q27J81	INF2_HUMAN	245	L	P	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	183	N	K	Polymorphism	-
Q27J81	INF2_HUMAN	81	L	P	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	214	R	C	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	104	C	R	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
Q27J81	INF2_HUMAN	104	C	W	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
Q27J81	INF2_HUMAN	76	L	P	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	177	R	C	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	57	L	R	Unclassified	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
Q27J81	INF2_HUMAN	184	E	Q	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	1096	P	S	Polymorphism	-
Q27J81	INF2_HUMAN	547	G	D	Polymorphism	-
Q27J81	INF2_HUMAN	104	C	F	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
Q27J81	INF2_HUMAN	1160	G	S	Polymorphism	-
Q27J81	INF2_HUMAN	1135	T	M	Polymorphism	-
Q27J81	INF2_HUMAN	13	A	T	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	158	H	D	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	186	S	P	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	162	L	R	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	184	E	K	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	218	R	Q	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	202	N	D	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	203	A	D	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	177	R	H	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	42	L	P	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	198	L	R	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	68	F	S	Unclassified	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
Q27J81	INF2_HUMAN	73	G	S	Unclassified	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	105	V	G	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
Q27J81	INF2_HUMAN	181	V	G	Unclassified	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	132	L	P	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
Q27J81	INF2_HUMAN	214	R	H	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	184	E	K	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
Q27J81	INF2_HUMAN	218	R	W	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	193	Y	H	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q27J81	INF2_HUMAN	220	E	K	Disease	Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]
Q29718	1B82_HUMAN	48	S	A	Polymorphism	-
Q29718	1B82_HUMAN	87	N	D	Polymorphism	-
Q29718	1B82_HUMAN	98	D	Y	Polymorphism	-
Q29718	1B82_HUMAN	87	N	K	Polymorphism	-
Q29718	1B82_HUMAN	48	S	P	Polymorphism	-
Q29718	1B82_HUMAN	65	A	T	Polymorphism	-
Q29718	1B82_HUMAN	48	S	T	Polymorphism	-
Q29718	1B82_HUMAN	97	T	A	Polymorphism	-
Q29718	1B82_HUMAN	101	S	N	Polymorphism	-
Q29718	1B82_HUMAN	186	D	G	Polymorphism	-
Q29836	1B67_HUMAN	98	D	Y	Polymorphism	-
Q29836	1B67_HUMAN	93	A	R	Polymorphism	-
Q29836	1B67_HUMAN	48	S	P	Polymorphism	-
Q29836	1B67_HUMAN	100	E	V	Polymorphism	-
Q29836	1B67_HUMAN	97	T	A	Polymorphism	-
Q29836	1B67_HUMAN	329	A	T	Polymorphism	-
Q29836	1B67_HUMAN	36	V	M	Polymorphism	-
Q29836	1B67_HUMAN	87	N	K	Polymorphism	-
Q29836	1B67_HUMAN	76	I	V	Polymorphism	-
Q29836	1B67_HUMAN	35	S	A	Polymorphism	-
Q29836	1B67_HUMAN	48	S	T	Polymorphism	-
Q29836	1B67_HUMAN	65	A	T	Polymorphism	-
Q29836	1B67_HUMAN	87	N	D	Polymorphism	-
Q29836	1B67_HUMAN	101	S	N	Polymorphism	-
Q29836	1B67_HUMAN	87	N	E	Polymorphism	-
Q29836	1B67_HUMAN	90	I	K	Polymorphism	-
Q29836	1B67_HUMAN	48	S	A	Polymorphism	-
Q29836	1B67_HUMAN	4	M	T	Polymorphism	-
Q29836	1B67_HUMAN	306	V	I	Polymorphism	-
Q29836	1B67_HUMAN	69	E	G	Polymorphism	-
Q29836	1B67_HUMAN	17	L	V	Polymorphism	-
Q29836	1B67_HUMAN	9	V	L	Polymorphism	-
Q29865	1C18_HUMAN	97	A	T	Polymorphism	-
Q29865	1C18_HUMAN	43	E	K	Polymorphism	-
Q29865	1C18_HUMAN	319	V	A	Polymorphism	-
Q29865	1C18_HUMAN	48	S	A	Polymorphism	-
Q29865	1C18_HUMAN	76	V	M	Polymorphism	-
Q29865	1C18_HUMAN	73	A	E	Polymorphism	-
Q29865	1C18_HUMAN	90	K	N	Polymorphism	-
Q29865	1C18_HUMAN	201	E	K	Polymorphism	-
Q29865	1C18_HUMAN	48	S	P	Polymorphism	-
Q29865	1C18_HUMAN	10	L	I	Polymorphism	-
Q29865	1C18_HUMAN	48	S	T	Polymorphism	-
Q29865	1C18_HUMAN	272	V	M	Polymorphism	-
Q29940	1B59_HUMAN	87	N	D	Polymorphism	-
Q29940	1B59_HUMAN	87	N	K	Polymorphism	-
Q29940	1B59_HUMAN	65	A	T	Polymorphism	-
Q29960	1C16_HUMAN	137	Y	H	Polymorphism	-
Q29960	1C16_HUMAN	73	A	E	Polymorphism	-
Q29960	1C16_HUMAN	180	Q	W	Polymorphism	-
Q29960	1C16_HUMAN	153	H	D	Polymorphism	-
Q29960	1C16_HUMAN	157	C	W	Polymorphism	-
Q29960	1C16_HUMAN	90	K	N	Polymorphism	-
Q29960	1C16_HUMAN	201	E	K	Polymorphism	-
Q29960	1C16_HUMAN	101	S	N	Polymorphism	-
Q29960	1C16_HUMAN	76	V	M	Polymorphism	-
Q29960	1C16_HUMAN	272	V	M	Polymorphism	-
Q29960	1C16_HUMAN	104	N	K	Polymorphism	-
Q29963	1C06_HUMAN	90	K	N	Polymorphism	-
Q29963	1C06_HUMAN	76	V	M	Polymorphism	-
Q29963	1C06_HUMAN	73	A	E	Polymorphism	-
Q29963	1C06_HUMAN	97	A	T	Polymorphism	-
Q29963	1C06_HUMAN	180	W	L	Polymorphism	-
Q29963	1C06_HUMAN	43	E	K	Polymorphism	-
Q29963	1C06_HUMAN	201	E	K	Polymorphism	-
Q29963	1C06_HUMAN	137	Y	H	Polymorphism	-
Q29963	1C06_HUMAN	48	S	T	Polymorphism	-
Q29963	1C06_HUMAN	48	S	P	Polymorphism	-
Q29963	1C06_HUMAN	48	S	A	Polymorphism	-
Q29963	1C06_HUMAN	272	V	M	Polymorphism	-
Q29963	1C06_HUMAN	33	D	Y	Polymorphism	-
Q29974	2B1G_HUMAN	76	Y	F	Polymorphism	-
Q29974	2B1G_HUMAN	103	A	L	Polymorphism	-
Q29974	2B1G_HUMAN	262	T	R	Polymorphism	-
Q29974	2B1G_HUMAN	43	E	K	Polymorphism	-
Q29974	2B1G_HUMAN	66	S	N	Polymorphism	-
Q29974	2B1G_HUMAN	56	L	P	Polymorphism	-
Q29974	2B1G_HUMAN	101	R	A	Polymorphism	-
Q29974	2B1G_HUMAN	96	F	L	Polymorphism	-
Q29974	2B1G_HUMAN	96	F	I	Polymorphism	-
Q29974	2B1G_HUMAN	42	R	K	Polymorphism	-
Q29980	MICB_HUMAN	215	E	K	Polymorphism	-
Q29980	MICB_HUMAN	383	A	T	Polymorphism	-
Q29980	MICB_HUMAN	88	D	G	Polymorphism	-
Q29980	MICB_HUMAN	136	D	H	Polymorphism	-
Q29980	MICB_HUMAN	136	D	N	Polymorphism	-
Q29980	MICB_HUMAN	80	K	E	Polymorphism	-
Q29980	MICB_HUMAN	291	G	S	Polymorphism	-
Q29980	MICB_HUMAN	68	P	H	Polymorphism	-
Q29980	MICB_HUMAN	121	I	M	Polymorphism	-
Q29980	MICB_HUMAN	300	V	A	Polymorphism	-
Q29980	MICB_HUMAN	105	D	G	Polymorphism	-
Q29980	MICB_HUMAN	279	R	K	Polymorphism	-
Q29980	MICB_HUMAN	75	D	N	Polymorphism	-
Q29980	MICB_HUMAN	39	E	G	Polymorphism	-
Q29980	MICB_HUMAN	212	T	I	Polymorphism	-
Q29983	MICA_HUMAN	356	T	M	Polymorphism	-
Q29983	MICA_HUMAN	373	D	A	Polymorphism	-
Q29983	MICA_HUMAN	328	V	I	Polymorphism	-
Q29983	MICA_HUMAN	238	S	T	Polymorphism	-
Q29983	MICA_HUMAN	274	Q	R	Polymorphism	-
Q29983	MICA_HUMAN	152	M	V	Polymorphism	-
Q29983	MICA_HUMAN	137	G	R	Polymorphism	-
Q29983	MICA_HUMAN	294	P	A	Polymorphism	-
Q29983	MICA_HUMAN	291	S	G	Polymorphism	-
Q29983	MICA_HUMAN	329	R	C	Polymorphism	-
Q29983	MICA_HUMAN	145	L	V	Polymorphism	-
Q29983	MICA_HUMAN	253	W	S	Polymorphism	-
Q29983	MICA_HUMAN	279	R	S	Polymorphism	-
Q29983	MICA_HUMAN	383	A	T	Polymorphism	-
Q29983	MICA_HUMAN	174	M	V	Polymorphism	-
Q29983	MICA_HUMAN	236	T	I	Polymorphism	-
Q29983	MICA_HUMAN	377	T	A	Polymorphism	-
Q29983	MICA_HUMAN	148	K	E	Polymorphism	-
Q29983	MICA_HUMAN	199	V	I	Polymorphism	-
Q29983	MICA_HUMAN	198	G	S	Polymorphism	-
Q29983	MICA_HUMAN	49	V	G	Polymorphism	-
Q29983	MICA_HUMAN	147	T	S	Polymorphism	-
Q29983	MICA_HUMAN	29	R	P	Polymorphism	-
Q29983	MICA_HUMAN	165	V	I	Polymorphism	-
Q29983	MICA_HUMAN	128	R	K	Polymorphism	-
Q29983	MICA_HUMAN	196	K	E	Polymorphism	-
Q29983	MICA_HUMAN	244	V	L	Polymorphism	-
Q29983	MICA_HUMAN	233	W	R	Polymorphism	-
Q29983	MICA_HUMAN	114	Q	R	Polymorphism	-
Q29983	MICA_HUMAN	47	T	A	Polymorphism	-
Q29983	MICA_HUMAN	229	G	S	Polymorphism	-
Q29983	MICA_HUMAN	59	C	Y	Polymorphism	-
Q29983	MICA_HUMAN	231	Y	C	Polymorphism	-
Q29983	MICA_HUMAN	204	T	R	Polymorphism	-
Q29983	MICA_HUMAN	179	H	L	Polymorphism	-
Q29983	MICA_HUMAN	37	W	G	Polymorphism	-
Q2HXU8	CL12B_HUMAN	116	V	L	Polymorphism	-
Q2HXU8	CL12B_HUMAN	6	T	N	Polymorphism	-
Q2I0M5	RSPO4_HUMAN	95	C	F	Disease	Nail disorder, non-syndromic congenital, 4 (NDNC4) [MIM:206800]
Q2I0M5	RSPO4_HUMAN	118	C	Y	Disease	Nail disorder, non-syndromic congenital, 4 (NDNC4) [MIM:206800]
Q2I0M5	RSPO4_HUMAN	107	C	R	Disease	Nail disorder, non-syndromic congenital, 4 (NDNC4) [MIM:206800]
Q2I0M5	RSPO4_HUMAN	106	R	Q	Polymorphism	-
Q2I0M5	RSPO4_HUMAN	65	Q	R	Disease	Nail disorder, non-syndromic congenital, 4 (NDNC4) [MIM:206800]
Q2KHM9	MOONR_HUMAN	375	E	G	Polymorphism	-
Q2KHM9	MOONR_HUMAN	466	L	P	Polymorphism	-
Q2KHM9	MOONR_HUMAN	257	R	G	Unclassified	-
Q2KHM9	MOONR_HUMAN	201	H	Q	Polymorphism	-
Q2KHM9	MOONR_HUMAN	444	D	N	Polymorphism	-
Q2KHM9	MOONR_HUMAN	501	V	M	Polymorphism	-
Q2KHM9	MOONR_HUMAN	375	E	D	Polymorphism	-
Q2KHM9	MOONR_HUMAN	896	Q	R	Polymorphism	-
Q2KHM9	MOONR_HUMAN	566	P	L	Polymorphism	-
Q2KHR2	RFX7_HUMAN	677	V	L	Polymorphism	-
Q2KHR2	RFX7_HUMAN	434	G	V	Polymorphism	-
Q2KHR2	RFX7_HUMAN	1256	L	P	Polymorphism	-
Q2KHR3	QSER1_HUMAN	644	Q	R	Polymorphism	-
Q2KHR3	QSER1_HUMAN	385	V	I	Polymorphism	-
Q2KHR3	QSER1_HUMAN	1018	N	S	Polymorphism	-
Q2KHR3	QSER1_HUMAN	1304	N	D	Polymorphism	-
Q2KHT3	CL16A_HUMAN	906	G	E	Polymorphism	-
Q2KHT4	GSG1_HUMAN	67	G	V	Polymorphism	-
Q2KHT4	GSG1_HUMAN	39	F	L	Polymorphism	-
Q2KJY2	KI26B_HUMAN	1904	D	N	Unclassified	-
Q2LD37	K1109_HUMAN	978	I	T	Polymorphism	-
Q2LD37	K1109_HUMAN	1573	M	I	Unclassified	Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822]
Q2LD37	K1109_HUMAN	1958	R	Q	Unclassified	Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822]
Q2LD37	K1109_HUMAN	1867	V	M	Unclassified	Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822]
Q2LD37	K1109_HUMAN	4352	T	A	Polymorphism	-
Q2LD37	K1109_HUMAN	968	R	C	Unclassified	Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822]
Q2LD37	K1109_HUMAN	3385	G	R	Unclassified	Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822]
Q2LD37	K1109_HUMAN	3050	P	H	Unclassified	Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822]
Q2LD37	K1109_HUMAN	2521	S	R	Polymorphism	-
Q2LD37	K1109_HUMAN	1951	D	E	Polymorphism	-
Q2LD37	K1109_HUMAN	1329	Y	C	Unclassified	Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822]
Q2LD37	K1109_HUMAN	4786	T	A	Polymorphism	-
Q2M1K9	ZN423_HUMAN	1277	H	Y	Disease	Joubert syndrome 19 (JBTS19) [MIM:614844]
Q2M1K9	ZN423_HUMAN	913	P	L	Disease	Nephronophthisis 14 (NPHP14) [MIM:614844]
Q2M1K9	ZN423_HUMAN	629	N	S	Polymorphism	-
Q2M1P5	KIF7_HUMAN	958	S	I	Polymorphism	-
Q2M1P5	KIF7_HUMAN	987	E	K	Unclassified	Acrocallosal syndrome (ACLS) [MIM:200990]
Q2M1P5	KIF7_HUMAN	1115	H	Q	Polymorphism	-
Q2M1P5	KIF7_HUMAN	994	Q	R	Disease	Bardet-Biedl syndrome (BBS) [MIM:209900]
Q2M1P5	KIF7_HUMAN	759	L	P	Unclassified	-
Q2M1P5	KIF7_HUMAN	1068	R	W	Disease	Bardet-Biedl syndrome (BBS) [MIM:209900]
Q2M1P5	KIF7_HUMAN	154	R	Q	Unclassified	Acrocallosal syndrome (ACLS) [MIM:200990]
Q2M1P5	KIF7_HUMAN	1060	N	S	Disease	Al-Gazali-Bakalinova syndrome (AGBK) [MIM:607131]
Q2M1P5	KIF7_HUMAN	632	P	L	Polymorphism	-
Q2M1P5	KIF7_HUMAN	52	D	N	Polymorphism	-
Q2M1P5	KIF7_HUMAN	1005	G	R	Polymorphism	-
Q2M1P5	KIF7_HUMAN	828	V	M	Unclassified	Acrocallosal syndrome (ACLS) [MIM:200990]
Q2M1P5	KIF7_HUMAN	834	Q	R	Polymorphism	-
Q2M1P5	KIF7_HUMAN	702	R	Q	Disease	Acrocallosal syndrome (ACLS) [MIM:200990]
Q2M1P5	KIF7_HUMAN	641	R	G	Disease	Bardet-Biedl syndrome (BBS) [MIM:209900]
Q2M1P5	KIF7_HUMAN	1122	S	W	Unclassified	Acrocallosal syndrome (ACLS) [MIM:200990]
Q2M1V0	ISX_HUMAN	83	R	Q	Polymorphism	-
Q2M1V0	ISX_HUMAN	158	A	V	Polymorphism	-
Q2M1V0	ISX_HUMAN	28	S	G	Polymorphism	-
Q2M1V0	ISX_HUMAN	57	P	S	Polymorphism	-
Q2M1Z3	RHG31_HUMAN	803	G	S	Polymorphism	-
Q2M1Z3	RHG31_HUMAN	221	P	L	Polymorphism	-
Q2M1Z3	RHG31_HUMAN	727	T	I	Polymorphism	-
Q2M1Z3	RHG31_HUMAN	1115	I	L	Polymorphism	-
Q2M1Z3	RHG31_HUMAN	1366	V	M	Polymorphism	-
Q2M1Z3	RHG31_HUMAN	1380	T	I	Polymorphism	-
Q2M243	CCD27_HUMAN	390	P	L	Polymorphism	-
Q2M243	CCD27_HUMAN	353	T	M	Polymorphism	-
Q2M243	CCD27_HUMAN	54	Q	E	Polymorphism	-
Q2M243	CCD27_HUMAN	267	M	T	Polymorphism	-
Q2M296	MTHSD_HUMAN	45	L	V	Polymorphism	-
Q2M296	MTHSD_HUMAN	243	R	C	Polymorphism	-
Q2M296	MTHSD_HUMAN	315	G	R	Polymorphism	-
Q2M296	MTHSD_HUMAN	296	S	C	Polymorphism	-
Q2M296	MTHSD_HUMAN	244	A	T	Polymorphism	-
Q2M2E3	ODFP4_HUMAN	139	Y	C	Polymorphism	-
Q2M2E3	ODFP4_HUMAN	34	W	R	Polymorphism	-
Q2M2E3	ODFP4_HUMAN	98	V	M	Polymorphism	-
Q2M2E5	CE064_HUMAN	57	A	T	Polymorphism	-
Q2M2E5	CE064_HUMAN	101	R	W	Polymorphism	-
Q2M2I3	FA83E_HUMAN	372	R	H	Polymorphism	-
Q2M2I3	FA83E_HUMAN	91	T	A	Polymorphism	-
Q2M2I3	FA83E_HUMAN	311	P	L	Polymorphism	-
Q2M2I5	K1C24_HUMAN	366	R	C	Polymorphism	-
Q2M2I5	K1C24_HUMAN	418	W	R	Polymorphism	-
Q2M2I5	K1C24_HUMAN	429	K	E	Polymorphism	-
Q2M2I5	K1C24_HUMAN	115	A	T	Polymorphism	-
Q2M2I5	K1C24_HUMAN	250	G	D	Polymorphism	-
Q2M2I5	K1C24_HUMAN	267	M	I	Polymorphism	-
Q2M2I5	K1C24_HUMAN	415	C	Y	Polymorphism	-
Q2M2I8	AAK1_HUMAN	509	K	Q	Polymorphism	-
Q2M2I8	AAK1_HUMAN	694	T	M	Polymorphism	-
Q2M2I8	AAK1_HUMAN	533	Q	H	Polymorphism	-
Q2M2I8	AAK1_HUMAN	771	P	R	Polymorphism	-
Q2M2I8	AAK1_HUMAN	725	P	T	Polymorphism	-
Q2M2I8	AAK1_HUMAN	59	I	V	Polymorphism	-
Q2M2I8	AAK1_HUMAN	835	G	D	Polymorphism	-
Q2M2I8	AAK1_HUMAN	603	V	A	Polymorphism	-
Q2M2W7	CQ058_HUMAN	92	I	V	Polymorphism	-
Q2M2Z5	KIZ_HUMAN	139	H	Q	Polymorphism	-
Q2M2Z5	KIZ_HUMAN	236	M	T	Polymorphism	-
Q2M329	CCD96_HUMAN	96	E	K	Polymorphism	-
Q2M385	MPEG1_HUMAN	467	A	T	Polymorphism	-
Q2M385	MPEG1_HUMAN	694	Q	R	Polymorphism	-
Q2M385	MPEG1_HUMAN	552	P	L	Polymorphism	-
Q2M389	WASC4_HUMAN	901	V	I	Polymorphism	-
Q2M389	WASC4_HUMAN	323	V	L	Polymorphism	-
Q2M389	WASC4_HUMAN	1019	P	R	Disease	Mental retardation, autosomal recessive 43 (MRT43) [MIM:615817]
Q2M389	WASC4_HUMAN	599	T	S	Polymorphism	-
Q2M3A8	MRAS1_HUMAN	6	E	A	Polymorphism	-
Q2M3A8	MRAS1_HUMAN	135	S	F	Polymorphism	-
Q2M3A8	MRAS1_HUMAN	142	G	V	Polymorphism	-
Q2M3C6	TM266_HUMAN	391	R	H	Polymorphism	-
Q2M3C6	TM266_HUMAN	427	P	L	Polymorphism	-
Q2M3C7	SPKAP_HUMAN	847	H	Q	Polymorphism	-
Q2M3C7	SPKAP_HUMAN	1603	S	R	Polymorphism	-
Q2M3C7	SPKAP_HUMAN	867	Q	R	Polymorphism	-
Q2M3C7	SPKAP_HUMAN	617	K	E	Polymorphism	-
Q2M3C7	SPKAP_HUMAN	425	G	R	Polymorphism	-
Q2M3D2	EX3L2_HUMAN	173	N	D	Polymorphism	-
Q2M3G0	ABCB5_HUMAN	880	A	T	Unclassified	A pancreatic ductal adenocarcinoma sample
Q2M3G0	ABCB5_HUMAN	905	Q	H	Polymorphism	-
Q2M3G0	ABCB5_HUMAN	915	A	T	Polymorphism	-
Q2M3G0	ABCB5_HUMAN	675	E	V	Unclassified	A colorectal cancer sample
Q2M3G0	ABCB5_HUMAN	669	K	R	Polymorphism	-
Q2M3G0	ABCB5_HUMAN	970	E	K	Polymorphism	-
Q2M3G0	ABCB5_HUMAN	560	K	E	Polymorphism	-
Q2M3G4	SHRM1_HUMAN	180	P	L	Polymorphism	-
Q2M3M2	SC5A9_HUMAN	207	M	T	Polymorphism	-
Q2M3M2	SC5A9_HUMAN	124	V	I	Polymorphism	-
Q2M3M2	SC5A9_HUMAN	269	I	M	Polymorphism	-
Q2M3M2	SC5A9_HUMAN	152	V	M	Polymorphism	-
Q2M3T9	HYAL4_HUMAN	346	A	S	Polymorphism	-
Q2M3V2	SWAHA_HUMAN	545	F	L	Polymorphism	-
Q2M3V2	SWAHA_HUMAN	124	R	P	Polymorphism	-
Q2M3X9	ZN674_HUMAN	343	T	M	Polymorphism	-
Q2M3X9	ZN674_HUMAN	412	P	L	Unclassified	-
Q2M3X9	ZN674_HUMAN	182	L	F	Polymorphism	-
Q2NKJ3	CTC1_HUMAN	1005	I	V	Polymorphism	-
Q2NKJ3	CTC1_HUMAN	820	I	V	Polymorphism	-
Q2NKJ3	CTC1_HUMAN	1142	L	H	Disease	Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199]
Q2NKJ3	CTC1_HUMAN	840	R	W	Disease	Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199]
Q2NKJ3	CTC1_HUMAN	871	V	M	Disease	Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199]
Q2NKJ3	CTC1_HUMAN	259	V	M	Disease	Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199]
Q2NKJ3	CTC1_HUMAN	665	V	G	Disease	Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199]
Q2NKJ3	CTC1_HUMAN	227	A	V	Disease	Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199]
Q2NKJ3	CTC1_HUMAN	975	R	G	Disease	Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199]
Q2NKJ3	CTC1_HUMAN	987	R	W	Disease	Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199]
Q2NKJ3	CTC1_HUMAN	503	G	R	Disease	Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199]
Q2NKQ1	SGSM1_HUMAN	873	R	K	Polymorphism	-
Q2NKQ1	SGSM1_HUMAN	802	T	P	Polymorphism	-
Q2NL68	PRSR3_HUMAN	302	S	R	Polymorphism	-
Q2NL68	PRSR3_HUMAN	365	K	N	Polymorphism	-
Q2NL82	TSR1_HUMAN	750	H	Q	Polymorphism	-
Q2NL82	TSR1_HUMAN	719	N	S	Polymorphism	-
Q2NL82	TSR1_HUMAN	727	K	Q	Polymorphism	-
Q2NL82	TSR1_HUMAN	386	S	G	Polymorphism	-
Q2PPJ7	RGPA2_HUMAN	492	S	N	Polymorphism	-
Q2PZI1	D19L1_HUMAN	502	G	V	Polymorphism	-
Q2QGD7	ZXDC_HUMAN	562	P	L	Polymorphism	-
Q2T9J0	TYSD1_HUMAN	65	T	A	Polymorphism	-
Q2T9K0	TMM44_HUMAN	24	H	N	Polymorphism	-
Q2T9K0	TMM44_HUMAN	284	Q	R	Polymorphism	-
Q2T9K0	TMM44_HUMAN	232	R	H	Polymorphism	-
Q2TAA5	ALG11_HUMAN	279	Y	S	Disease	Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
Q2TAA5	ALG11_HUMAN	318	Q	P	Disease	Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
Q2TAA5	ALG11_HUMAN	108	N	S	Polymorphism	-
Q2TAA5	ALG11_HUMAN	381	L	S	Disease	Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
Q2TAA5	ALG11_HUMAN	86	L	S	Disease	Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
Q2TAA5	ALG11_HUMAN	398	E	K	Disease	Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
Q2TAC2	CCD57_HUMAN	833	M	T	Polymorphism	-
Q2TAC2	CCD57_HUMAN	776	D	N	Polymorphism	-
Q2TAC2	CCD57_HUMAN	810	Q	K	Polymorphism	-
Q2TAC2	CCD57_HUMAN	480	V	M	Polymorphism	-
Q2TAC2	CCD57_HUMAN	774	R	G	Polymorphism	-
Q2TAC2	CCD57_HUMAN	321	Q	R	Polymorphism	-
Q2TAC2	CCD57_HUMAN	777	A	T	Polymorphism	-
Q2TAC2	CCD57_HUMAN	237	E	Q	Polymorphism	-
Q2TAC6	KIF19_HUMAN	807	R	H	Polymorphism	-
Q2TAC6	KIF19_HUMAN	974	R	Q	Polymorphism	-
Q2TAC6	KIF19_HUMAN	937	L	P	Polymorphism	-
Q2TAC6	KIF19_HUMAN	471	R	W	Polymorphism	-
Q2TAK8	PWP3A_HUMAN	219	G	R	Polymorphism	-
Q2TAK8	PWP3A_HUMAN	551	G	A	Polymorphism	-
Q2TAL5	SMTL2_HUMAN	162	A	T	Polymorphism	-
Q2TAL5	SMTL2_HUMAN	251	W	R	Polymorphism	-
Q2TAL6	VWC2_HUMAN	120	A	G	Polymorphism	-
Q2TAM9	TUSC1_HUMAN	123	N	D	Polymorphism	-
Q2TAZ0	ATG2A_HUMAN	948	G	R	Polymorphism	-
Q2TAZ0	ATG2A_HUMAN	175	V	I	Polymorphism	-
Q2TAZ0	ATG2A_HUMAN	394	R	C	Polymorphism	-
Q2TAZ0	ATG2A_HUMAN	627	A	V	Polymorphism	-
Q2TAZ0	ATG2A_HUMAN	404	A	V	Polymorphism	-
Q2TAZ0	ATG2A_HUMAN	656	P	R	Polymorphism	-
Q2TB10	ZN800_HUMAN	102	L	V	Polymorphism	-
Q2TB90	HKDC1_HUMAN	124	T	I	Polymorphism	-
Q2TB90	HKDC1_HUMAN	204	L	P	Polymorphism	-
Q2TB90	HKDC1_HUMAN	721	W	R	Polymorphism	-
Q2TB90	HKDC1_HUMAN	54	D	G	Polymorphism	-
Q2TB90	HKDC1_HUMAN	917	N	K	Polymorphism	-
Q2TBA0	KLH40_HUMAN	469	G	C	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	528	E	K	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	588	E	K	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	311	R	L	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	201	W	L	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	397	P	L	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	34	D	H	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	345	N	S	Polymorphism	-
Q2TBA0	KLH40_HUMAN	86	L	P	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	538	A	P	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	506	T	P	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	617	C	R	Polymorphism	-
Q2TBA0	KLH40_HUMAN	455	H	R	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	500	R	C	Unclassified	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	505	A	P	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0	KLH40_HUMAN	194	V	E	Disease	Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBC4	PRIC4_HUMAN	266	S	R	Polymorphism	-
Q2TBE0	C19L2_HUMAN	537	G	R	Polymorphism	-
Q2TBE0	C19L2_HUMAN	445	H	Q	Polymorphism	-
Q2TBE0	C19L2_HUMAN	210	P	T	Polymorphism	-
Q2TBE0	C19L2_HUMAN	894	Y	C	Polymorphism	-
Q2TBE0	C19L2_HUMAN	443	H	Y	Polymorphism	-
Q2TBF2	WSCD2_HUMAN	266	T	I	Polymorphism	-
Q2UY09	COSA1_HUMAN	189	A	G	Polymorphism	-
Q2UY09	COSA1_HUMAN	472	A	P	Polymorphism	-
Q2UY09	COSA1_HUMAN	239	I	V	Polymorphism	-
Q2UY09	COSA1_HUMAN	741	R	Q	Polymorphism	-
Q2UY09	COSA1_HUMAN	437	I	M	Polymorphism	-
Q2UY09	COSA1_HUMAN	327	T	S	Polymorphism	-
Q2UY09	COSA1_HUMAN	433	E	D	Polymorphism	-
Q2V2M9	FHOD3_HUMAN	475	R	W	Polymorphism	-
Q2VIQ3	KIF4B_HUMAN	580	R	L	Polymorphism	-
Q2VIQ3	KIF4B_HUMAN	680	R	H	Polymorphism	-
Q2VIQ3	KIF4B_HUMAN	684	Y	C	Polymorphism	-
Q2VIQ3	KIF4B_HUMAN	494	E	Q	Polymorphism	-
Q2VPA4	CR1L_HUMAN	402	N	D	Polymorphism	-
Q2VPA4	CR1L_HUMAN	491	L	P	Polymorphism	-
Q2VPA4	CR1L_HUMAN	116	R	G	Polymorphism	-
Q2VPA4	CR1L_HUMAN	139	I	V	Polymorphism	-
Q2VPA4	CR1L_HUMAN	455	I	V	Polymorphism	-
Q2VPJ9	LR75B_HUMAN	140	S	R	Polymorphism	-
Q2VPK5	CTU2_HUMAN	416	Q	R	Polymorphism	-
Q2VPK5	CTU2_HUMAN	186	H	Y	Polymorphism	-
Q2VPK5	CTU2_HUMAN	253	M	V	Polymorphism	-
Q2VPK5	CTU2_HUMAN	332	V	I	Polymorphism	-
Q2VWA4	SKOR2_HUMAN	947	F	C	Polymorphism	-
Q2VWP7	PRTG_HUMAN	236	T	A	Polymorphism	-
Q2VWP7	PRTG_HUMAN	826	V	L	Polymorphism	-
Q2VWP7	PRTG_HUMAN	1062	I	L	Polymorphism	-
Q2VY69	ZN284_HUMAN	546	K	E	Polymorphism	-
Q2VY69	ZN284_HUMAN	577	E	K	Polymorphism	-
Q2WEN9	CEA16_HUMAN	140	T	P	Disease	Deafness, autosomal dominant, 4B (DFNA4B) [MIM:614614]
Q2WEN9	CEA16_HUMAN	169	G	R	Disease	Deafness, autosomal dominant, 4B (DFNA4B) [MIM:614614]
Q2WGJ6	KLH38_HUMAN	346	R	K	Polymorphism	-
Q2WGJ6	KLH38_HUMAN	334	I	V	Polymorphism	-
Q2WGJ6	KLH38_HUMAN	310	G	S	Polymorphism	-
Q2WGJ6	KLH38_HUMAN	352	N	Y	Polymorphism	-
Q2WGJ6	KLH38_HUMAN	504	C	Y	Polymorphism	-
Q2WGJ6	KLH38_HUMAN	394	G	R	Polymorphism	-
Q2WGJ9	FR1L6_HUMAN	1110	D	E	Polymorphism	-
Q2WGN9	GAB4_HUMAN	273	L	P	Polymorphism	-
Q2Y0W8	S4A8_HUMAN	312	D	A	Polymorphism	-
Q2Y0W8	S4A8_HUMAN	898	I	V	Polymorphism	-
Q2YD98	UVSSA_HUMAN	32	C	R	Disease	UV-sensitive syndrome 3 (UVSS3) [MIM:614640]
Q2YD98	UVSSA_HUMAN	620	P	L	Polymorphism	-
Q2YD98	UVSSA_HUMAN	391	R	H	Polymorphism	-
Q30134	2B18_HUMAN	86	S	D	Polymorphism	-
Q30134	2B18_HUMAN	262	T	R	Polymorphism	-
Q30134	2B18_HUMAN	96	F	I	Polymorphism	-
Q30134	2B18_HUMAN	115	G	V	Polymorphism	-
Q30154	DRB5_HUMAN	87	A	E	Polymorphism	-
Q30154	DRB5_HUMAN	89	Y	S	Polymorphism	-
Q30154	DRB5_HUMAN	115	G	V	Polymorphism	-
Q30154	DRB5_HUMAN	14	K	Q	Polymorphism	-
Q30154	DRB5_HUMAN	59	D	G	Polymorphism	-
Q30154	DRB5_HUMAN	232	V	I	Polymorphism	-
Q30154	DRB5_HUMAN	154	G	A	Polymorphism	-
Q30154	DRB5_HUMAN	106	T	N	Polymorphism	-
Q30154	DRB5_HUMAN	186	T	I	Polymorphism	-
Q30154	DRB5_HUMAN	164	S	G	Polymorphism	-
Q30154	DRB5_HUMAN	14	K	M	Polymorphism	-
Q30154	DRB5_HUMAN	66	D	N	Polymorphism	-
Q30154	DRB5_HUMAN	99	D	H	Polymorphism	-
Q30154	DRB5_HUMAN	62	N	H	Polymorphism	-
Q30154	DRB5_HUMAN	57	H	Q	Polymorphism	-
Q30154	DRB5_HUMAN	99	D	Q	Polymorphism	-
Q30154	DRB5_HUMAN	35	R	C	Polymorphism	-
Q30154	DRB5_HUMAN	99	D	E	Polymorphism	-
Q30154	DRB5_HUMAN	100	R	T	Polymorphism	-
Q30154	DRB5_HUMAN	41	K	T	Polymorphism	-
Q30154	DRB5_HUMAN	67	L	V	Polymorphism	-
Q30154	DRB5_HUMAN	100	R	G	Polymorphism	-
Q30154	DRB5_HUMAN	20	M	T	Polymorphism	-
Q30154	DRB5_HUMAN	96	F	I	Polymorphism	-
Q30154	DRB5_HUMAN	28	L	S	Polymorphism	-
Q30154	DRB5_HUMAN	99	D	R	Polymorphism	-
Q30154	DRB5_HUMAN	103	A	E	Polymorphism	-
Q30154	DRB5_HUMAN	33	R	Q	Polymorphism	-
Q30154	DRB5_HUMAN	96	F	L	Polymorphism	-
Q30154	DRB5_HUMAN	114	V	A	Polymorphism	-
Q30154	DRB5_HUMAN	100	R	A	Polymorphism	-
Q30154	DRB5_HUMAN	14	K	V	Polymorphism	-
Q30154	DRB5_HUMAN	66	D	Y	Polymorphism	-
Q30154	DRB5_HUMAN	107	Y	V	Polymorphism	-
Q30154	DRB5_HUMAN	99	D	N	Polymorphism	-
Q30154	DRB5_HUMAN	99	D	G	Polymorphism	-
Q30154	DRB5_HUMAN	103	A	L	Polymorphism	-
Q30167	2B1A_HUMAN	262	T	R	Polymorphism	-
Q30201	HFE_HUMAN	66	R	C	Disease	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	93	G	R	Disease	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	277	E	K	Polymorphism	-
Q30201	HFE_HUMAN	63	H	D	Polymorphism	-
Q30201	HFE_HUMAN	59	V	M	Polymorphism	-
Q30201	HFE_HUMAN	224	R	G	Disease	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	330	R	M	Disease	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	282	C	Y	Disease	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	127	Q	H	Disease	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	43	G	D	Disease	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	6	R	S	Unclassified	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	224	R	Q	Polymorphism	-
Q30201	HFE_HUMAN	65	S	C	Disease	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	53	V	M	Polymorphism	-
Q30201	HFE_HUMAN	217	T	I	Polymorphism	-
Q30201	HFE_HUMAN	105	I	T	Disease	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	295	V	A	Disease	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	176	A	V	Unclassified	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30201	HFE_HUMAN	283	Q	P	Disease	Hemochromatosis 1 (HFE1) [MIM:235200]
Q30KQ4	DB116_HUMAN	19	Q	L	Polymorphism	-
Q31610	1B81_HUMAN	187	E	G	Polymorphism	-
Q31610	1B81_HUMAN	87	N	K	Polymorphism	-
Q31610	1B81_HUMAN	187	E	A	Polymorphism	-
Q31610	1B81_HUMAN	48	S	A	Polymorphism	-
Q31610	1B81_HUMAN	137	H	Y	Polymorphism	-
Q31610	1B81_HUMAN	48	S	T	Polymorphism	-
Q31610	1B81_HUMAN	329	A	T	Polymorphism	-
Q31610	1B81_HUMAN	97	T	A	Polymorphism	-
Q31610	1B81_HUMAN	349	C	Y	Polymorphism	-
Q31610	1B81_HUMAN	187	E	V	Polymorphism	-
Q31610	1B81_HUMAN	187	E	K	Polymorphism	-
Q31610	1B81_HUMAN	35	S	A	Polymorphism	-
Q31610	1B81_HUMAN	306	V	I	Polymorphism	-
Q31610	1B81_HUMAN	48	S	P	Polymorphism	-
Q31610	1B81_HUMAN	87	N	D	Polymorphism	-
Q31610	1B81_HUMAN	155	R	S	Polymorphism	-
Q31610	1B81_HUMAN	101	S	N	Polymorphism	-
Q31610	1B81_HUMAN	36	V	M	Polymorphism	-
Q31610	1B81_HUMAN	98	D	Y	Polymorphism	-
Q31610	1B81_HUMAN	9	V	L	Polymorphism	-
Q31610	1B81_HUMAN	195	Y	H	Polymorphism	-
Q31610	1B81_HUMAN	65	A	T	Polymorphism	-
Q31610	1B81_HUMAN	187	E	Q	Polymorphism	-
Q31610	1B81_HUMAN	4	M	T	Polymorphism	-
Q31610	1B81_HUMAN	349	C	S	Polymorphism	-
Q31612	1B73_HUMAN	65	A	T	Polymorphism	-
Q31612	1B73_HUMAN	4	M	T	Polymorphism	-
Q31612	1B73_HUMAN	87	N	K	Polymorphism	-
Q31612	1B73_HUMAN	9	V	L	Polymorphism	-
Q31612	1B73_HUMAN	17	L	V	Polymorphism	-
Q31612	1B73_HUMAN	87	N	D	Polymorphism	-
Q31612	1B73_HUMAN	155	R	S	Polymorphism	-
Q32M45	ANO4_HUMAN	115	G	A	Polymorphism	-
Q32M84	BTBDG_HUMAN	331	G	D	Polymorphism	-
Q32M84	BTBDG_HUMAN	318	R	Q	Polymorphism	-
Q32M84	BTBDG_HUMAN	472	Q	R	Polymorphism	-
Q32M84	BTBDG_HUMAN	439	H	P	Polymorphism	-
Q32M92	CO032_HUMAN	17	A	T	Polymorphism	-
Q32MH5	F214A_HUMAN	135	Q	R	Polymorphism	-
Q32MH5	F214A_HUMAN	560	V	I	Polymorphism	-
Q32MK0	MYLK3_HUMAN	180	V	L	Polymorphism	-
Q32MK0	MYLK3_HUMAN	390	G	R	Unclassified	A colorectal cancer sample
Q32MK0	MYLK3_HUMAN	70	S	T	Polymorphism	-
Q32MQ0	ZN750_HUMAN	392	Q	R	Polymorphism	-
Q32MQ0	ZN750_HUMAN	235	M	V	Polymorphism	-
Q32MQ0	ZN750_HUMAN	288	P	L	Polymorphism	-
Q32MZ4	LRRF1_HUMAN	275	Q	R	Polymorphism	-
Q32MZ4	LRRF1_HUMAN	418	N	S	Polymorphism	-
Q32MZ4	LRRF1_HUMAN	779	R	G	Polymorphism	-
Q32MZ4	LRRF1_HUMAN	609	E	K	Polymorphism	-
Q32MZ4	LRRF1_HUMAN	645	P	L	Polymorphism	-
Q32MZ4	LRRF1_HUMAN	783	H	D	Polymorphism	-
Q32MZ4	LRRF1_HUMAN	68	S	C	Unclassified	A breast cancer sample
Q32MZ4	LRRF1_HUMAN	633	K	E	Polymorphism	-
Q32NC0	CR021_HUMAN	132	T	A	Polymorphism	-
Q32P28	P3H1_HUMAN	349	G	R	Polymorphism	-
Q32P28	P3H1_HUMAN	506	P	R	Polymorphism	-
Q32P28	P3H1_HUMAN	549	M	I	Polymorphism	-
Q32P28	P3H1_HUMAN	644	Q	K	Polymorphism	-
Q32P41	TRM5_HUMAN	386	M	V	Disease	Combined oxidative phosphorylation deficiency 26 (COXPD26) [MIM:616539]
Q32P41	TRM5_HUMAN	291	R	H	Disease	Combined oxidative phosphorylation deficiency 26 (COXPD26) [MIM:616539]
Q32P41	TRM5_HUMAN	255	L	P	Polymorphism	-
Q32P41	TRM5_HUMAN	217	S	P	Polymorphism	-
Q32P41	TRM5_HUMAN	294	E	A	Polymorphism	-
Q32P44	EMAL3_HUMAN	620	Q	K	Polymorphism	-
Q32P51	RA1L2_HUMAN	215	N	D	Polymorphism	-
Q330K2	NDUF6_HUMAN	124	I	T	Disease	Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
Q330K2	NDUF6_HUMAN	274	R	G	Disease	Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
Q330K2	NDUF6_HUMAN	99	Q	R	Disease	Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
Q330K2	NDUF6_HUMAN	269	H	D	Disease	Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
Q330K2	NDUF6_HUMAN	76	S	P	Disease	Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
Q330K2	NDUF6_HUMAN	69	D	V	Disease	Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
Q33E94	RFX4_HUMAN	687	S	N	Polymorphism	-
Q33E94	RFX4_HUMAN	698	S	A	Polymorphism	-
Q38SD2	LRRK1_HUMAN	1927	D	G	Polymorphism	-
Q38SD2	LRRK1_HUMAN	1824	L	F	Polymorphism	-
Q38SD2	LRRK1_HUMAN	1847	S	N	Polymorphism	-
Q38SD2	LRRK1_HUMAN	1803	A	T	Polymorphism	-
Q3B7J2	GFOD2_HUMAN	231	G	V	Polymorphism	-
Q3B7T1	EDRF1_HUMAN	45	N	S	Unclassified	A colorectal cancer sample
Q3B7T1	EDRF1_HUMAN	95	L	F	Unclassified	A colorectal cancer sample
Q3B820	F161A_HUMAN	107	I	M	Polymorphism	-
Q3B820	F161A_HUMAN	236	I	V	Polymorphism	-
Q3B820	F161A_HUMAN	273	E	K	Polymorphism	-
Q3B8N5	PROX2_HUMAN	474	R	H	Unclassified	-
Q3BBV0	NBPF1_HUMAN	31	N	K	Polymorphism	-
Q3BBV0	NBPF1_HUMAN	20	I	M	Polymorphism	-
Q3BBV0	NBPF1_HUMAN	726	K	E	Polymorphism	-
Q3BBV0	NBPF1_HUMAN	734	P	Q	Polymorphism	-
Q3BBV0	NBPF1_HUMAN	712	D	H	Polymorphism	-
Q3BBV0	NBPF1_HUMAN	510	A	T	Polymorphism	-
Q3BBV0	NBPF1_HUMAN	663	C	R	Polymorphism	-
Q3BBV0	NBPF1_HUMAN	850	K	Q	Polymorphism	-
Q3BBV0	NBPF1_HUMAN	612	M	V	Polymorphism	-
Q3BBV0	NBPF1_HUMAN	591	C	G	Polymorphism	-
Q3I5F7	ACOT6_HUMAN	166	E	K	Polymorphism	-
Q3KNS1	PTHD3_HUMAN	473	D	G	Polymorphism	-
Q3KNS1	PTHD3_HUMAN	584	I	M	Polymorphism	-
Q3KNS1	PTHD3_HUMAN	152	L	P	Polymorphism	-
Q3KNS1	PTHD3_HUMAN	521	M	T	Polymorphism	-
Q3KNS1	PTHD3_HUMAN	126	T	A	Polymorphism	-
Q3KNS1	PTHD3_HUMAN	372	R	K	Polymorphism	-
Q3KNS1	PTHD3_HUMAN	407	C	G	Polymorphism	-
Q3KNS1	PTHD3_HUMAN	224	A	G	Polymorphism	-
Q3KNW5	SOAT_HUMAN	6	S	F	Polymorphism	-
Q3KNW5	SOAT_HUMAN	114	I	V	Polymorphism	-
Q3KP44	ANR55_HUMAN	594	R	Q	Polymorphism	-
Q3KP44	ANR55_HUMAN	345	V	M	Polymorphism	-
Q3KP66	INAVA_HUMAN	333	Y	F	Disease	Inflammatory bowel disease 29 (IBD29) [MIM:618077]
Q3KP66	INAVA_HUMAN	538	R	C	Polymorphism	-
Q3KPI0	CEA21_HUMAN	121	T	N	Polymorphism	-
Q3KPI0	CEA21_HUMAN	198	M	V	Polymorphism	-
Q3KQU3	MA7D1_HUMAN	104	R	W	Polymorphism	-
Q3KQU3	MA7D1_HUMAN	531	R	S	Polymorphism	-
Q3KQV3	ZN792_HUMAN	177	R	Q	Polymorphism	-
Q3KQV3	ZN792_HUMAN	525	R	W	Polymorphism	-
Q3KQV9	UAP1L_HUMAN	319	A	V	Polymorphism	-
Q3KQV9	UAP1L_HUMAN	373	P	S	Polymorphism	-
Q3KR16	PKHG6_HUMAN	35	A	T	Polymorphism	-
Q3KRA6	CB076_HUMAN	116	K	R	Polymorphism	-
Q3KRA6	CB076_HUMAN	46	I	V	Polymorphism	-
Q3L8U1	CHD9_HUMAN	2312	D	E	Polymorphism	-
Q3LFD5	UBP41_HUMAN	325	N	S	Polymorphism	-
Q3LFD5	UBP41_HUMAN	130	Y	C	Polymorphism	-
Q3LHN0	KR251_HUMAN	40	S	P	Polymorphism	-
Q3LHN2	KR192_HUMAN	32	G	C	Polymorphism	-
Q3LHN2	KR192_HUMAN	5	Y	H	Polymorphism	-
Q3LI54	KR198_HUMAN	61	A	T	Polymorphism	-
Q3LI58	KR211_HUMAN	15	G	S	Unclassified	A breast cancer sample
Q3LI61	KR202_HUMAN	17	V	G	Polymorphism	-
Q3LI61	KR202_HUMAN	13	Y	C	Polymorphism	-
Q3LI61	KR202_HUMAN	7	Y	H	Polymorphism	-
Q3LI63	KR201_HUMAN	52	S	L	Unclassified	A breast cancer sample
Q3LI67	KRA63_HUMAN	44	Y	S	Polymorphism	-
Q3LI67	KRA63_HUMAN	51	Y	S	Polymorphism	-
Q3LI73	KR194_HUMAN	48	Y	C	Polymorphism	-
Q3LI76	KR151_HUMAN	43	L	M	Polymorphism	-
Q3LI77	KR134_HUMAN	154	R	H	Polymorphism	-
Q3LI77	KR134_HUMAN	59	A	T	Polymorphism	-
Q3LI81	KR271_HUMAN	99	A	V	Polymorphism	-
Q3LIE5	ADPRM_HUMAN	337	E	G	Polymorphism	-
Q3LIE5	ADPRM_HUMAN	92	L	R	Polymorphism	-
Q3LXA3	TKFC_HUMAN	185	A	T	Polymorphism	-
Q3LXA3	TKFC_HUMAN	334	A	G	Polymorphism	-
Q3MHD2	LSM12_HUMAN	173	V	L	Polymorphism	-
Q3MHD2	LSM12_HUMAN	77	P	R	Polymorphism	-
Q3MII6	TBC25_HUMAN	277	N	S	Polymorphism	-
Q3MIN7	RGL3_HUMAN	164	A	V	Polymorphism	-
Q3MIN7	RGL3_HUMAN	162	P	H	Polymorphism	-
Q3MIN7	RGL3_HUMAN	615	R	C	Polymorphism	-
Q3MIP1	IPIL2_HUMAN	522	P	S	Polymorphism	-
Q3MIP1	IPIL2_HUMAN	237	C	S	Polymorphism	-
Q3MIS6	ZN528_HUMAN	419	S	N	Polymorphism	-
Q3MIT2	PUS10_HUMAN	484	T	I	Unclassified	A colorectal cancer sample
Q3MIV0	KR221_HUMAN	26	L	H	Polymorphism	-
Q3MIV0	KR221_HUMAN	29	Y	C	Polymorphism	-
Q3MIW9	MUCL3_HUMAN	337	G	R	Polymorphism	-
Q3MIW9	MUCL3_HUMAN	419	E	K	Polymorphism	-
Q3MIW9	MUCL3_HUMAN	517	R	Q	Polymorphism	-
Q3MIX3	ADCK5_HUMAN	17	S	R	Polymorphism	-
Q3MJ13	WDR72_HUMAN	833	S	A	Polymorphism	-
Q3MJ13	WDR72_HUMAN	781	K	E	Polymorphism	-
Q3MJ13	WDR72_HUMAN	819	L	F	Polymorphism	-
Q3MJ13	WDR72_HUMAN	479	Q	H	Polymorphism	-
Q3MJ13	WDR72_HUMAN	100	M	V	Polymorphism	-
Q3MJ13	WDR72_HUMAN	399	K	Q	Polymorphism	-
Q3MJ16	PA24E_HUMAN	400	N	S	Polymorphism	-
Q3MJ16	PA24E_HUMAN	693	A	T	Polymorphism	-
Q3MUY2	PIGY_HUMAN	46	L	P	Disease	Hyperphosphatasia with mental retardation syndrome 6 (HPMRS6) [MIM:616809]
Q3SX64	OD3L2_HUMAN	135	V	A	Polymorphism	-
Q3SXM5	HSDL1_HUMAN	327	S	C	Polymorphism	-
Q3SXM5	HSDL1_HUMAN	248	P	S	Polymorphism	-
Q3SXY7	LRIT3_HUMAN	486	A	T	Polymorphism	-
Q3SXY7	LRIT3_HUMAN	503	T	M	Polymorphism	-
Q3SXY7	LRIT3_HUMAN	494	S	T	Unclassified	-
Q3SXY7	LRIT3_HUMAN	175	S	N	Polymorphism	-
Q3SXY7	LRIT3_HUMAN	592	C	Y	Unclassified	-
Q3SXY7	LRIT3_HUMAN	203	W	L	Disease	Night blindness, congenital stationary, 1F (CSNB1F) [MIM:615058]
Q3SXY7	LRIT3_HUMAN	336	M	L	Polymorphism	-
Q3SXY7	LRIT3_HUMAN	328	C	Y	Disease	Night blindness, congenital stationary, 1F (CSNB1F) [MIM:615058]
Q3SXY8	AR13B_HUMAN	79	R	Q	Disease	Joubert syndrome 8 (JBTS8) [MIM:612291]
Q3SXY8	AR13B_HUMAN	200	R	C	Disease	Joubert syndrome 8 (JBTS8) [MIM:612291]
Q3SXY8	AR13B_HUMAN	86	Y	C	Disease	Joubert syndrome 8 (JBTS8) [MIM:612291]
Q3SXY8	AR13B_HUMAN	390	R	L	Unclassified	-
Q3SXY8	AR13B_HUMAN	348	T	S	Polymorphism	-
Q3SXZ3	ZN718_HUMAN	140	K	N	Polymorphism	-
Q3SXZ3	ZN718_HUMAN	140	K	R	Polymorphism	-
Q3SXZ3	ZN718_HUMAN	413	H	R	Polymorphism	-
Q3SXZ3	ZN718_HUMAN	297	S	Y	Polymorphism	-
Q3SXZ7	TTLL9_HUMAN	76	Y	C	Polymorphism	-
Q3SY00	T10IP_HUMAN	521	M	V	Polymorphism	-
Q3SY00	T10IP_HUMAN	305	R	P	Polymorphism	-
Q3SY00	T10IP_HUMAN	237	R	S	Polymorphism	-
Q3SY00	T10IP_HUMAN	292	S	N	Polymorphism	-
Q3SY00	T10IP_HUMAN	210	A	V	Polymorphism	-
Q3SY05	CA157_HUMAN	98	V	A	Polymorphism	-
Q3SY17	S2552_HUMAN	239	L	I	Polymorphism	-
Q3SY56	SP6_HUMAN	156	V	I	Polymorphism	-
Q3SY77	UD3A2_HUMAN	515	R	H	Unclassified	A colorectal cancer sample
Q3SY77	UD3A2_HUMAN	74	Y	N	Polymorphism	-
Q3SY84	K2C71_HUMAN	141	F	C	Disease	Hypotrichosis 13 (HYPT13) [MIM:615896]
Q3SY84	K2C71_HUMAN	122	E	K	Polymorphism	-
Q3SY84	K2C71_HUMAN	523	R	Q	Polymorphism	-
Q3SY84	K2C71_HUMAN	107	V	I	Polymorphism	-
Q3SY84	K2C71_HUMAN	355	I	F	Polymorphism	-
Q3SY84	K2C71_HUMAN	464	V	G	Polymorphism	-
Q3SYC2	MOGT2_HUMAN	313	C	Y	Polymorphism	-
Q3SYC2	MOGT2_HUMAN	196	P	H	Polymorphism	-
Q3SYC2	MOGT2_HUMAN	9	M	V	Polymorphism	-
Q3SYG4	PTHB1_HUMAN	12	T	A	Polymorphism	-
Q3SYG4	PTHB1_HUMAN	455	A	T	Polymorphism	-
Q3SYG4	PTHB1_HUMAN	521	R	Q	Polymorphism	-
Q3SYG4	PTHB1_HUMAN	455	A	V	Polymorphism	-
Q3SYG4	PTHB1_HUMAN	549	T	I	Polymorphism	-
Q3SYG4	PTHB1_HUMAN	779	L	Q	Polymorphism	-
Q3SYG4	PTHB1_HUMAN	141	G	R	Disease	Bardet-Biedl syndrome 9 (BBS9) [MIM:615986]
Q3SYG4	PTHB1_HUMAN	665	L	F	Polymorphism	-
Q3T8J9	GON4L_HUMAN	1418	M	V	Polymorphism	-
Q3T8J9	GON4L_HUMAN	416	T	A	Polymorphism	-
Q3T8J9	GON4L_HUMAN	150	L	F	Polymorphism	-
Q3T8J9	GON4L_HUMAN	1539	Q	E	Polymorphism	-
Q3T8J9	GON4L_HUMAN	1197	S	P	Polymorphism	-
Q3T906	GNPTA_HUMAN	956	H	R	Unclassified	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	785	L	W	Unclassified	-
Q3T906	GNPTA_HUMAN	455	A	S	Unclassified	-
Q3T906	GNPTA_HUMAN	190	D	V	Unclassified	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	1200	E	K	Polymorphism	-
Q3T906	GNPTA_HUMAN	334	R	Q	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	625	F	L	Unclassified	-
Q3T906	GNPTA_HUMAN	587	R	P	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	928	K	R	Unclassified	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	182	V	D	Unclassified	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	1001	L	P	Disease	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	592	A	T	Unclassified	-
Q3T906	GNPTA_HUMAN	374	F	L	Disease	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	1018	D	G	Unclassified	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	986	R	C	Disease	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	1153	N	S	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	956	H	Y	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	523	C	R	Unclassified	-
Q3T906	GNPTA_HUMAN	1236	K	M	Disease	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	334	R	L	Disease	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	205	Q	P	Unclassified	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	15	S	Y	Unclassified	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	442	C	Y	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	81	W	L	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	76	D	G	Disease	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	955	A	V	Unclassified	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	403	I	T	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	1054	L	V	Unclassified	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	575	G	R	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	4	K	Q	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	468	C	S	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	732	K	N	Disease	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	81	W	L	Disease	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	505	C	Y	Unclassified	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	348	I	L	Unclassified	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	399	S	F	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	461	C	G	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	407	D	A	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	374	F	L	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	644	T	M	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	926	Q	P	Disease	Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
Q3T906	GNPTA_HUMAN	385	S	L	Disease	Mucolipidosis type II (MLII) [MIM:252500]
Q3T906	GNPTA_HUMAN	662	A	G	Polymorphism	-
Q3V5L5	MGT5B_HUMAN	70	V	I	Polymorphism	-
Q3YBM2	T176B_HUMAN	180	R	W	Polymorphism	-
Q3YBM2	T176B_HUMAN	94	S	R	Polymorphism	-
Q3YBM2	T176B_HUMAN	70	T	A	Polymorphism	-
Q3YBM2	T176B_HUMAN	55	P	S	Polymorphism	-
Q3YBM2	T176B_HUMAN	134	A	T	Polymorphism	-
Q3YBM2	T176B_HUMAN	40	G	E	Polymorphism	-
Q3YEC7	RABL6_HUMAN	382	E	Q	Polymorphism	-
Q3ZCM7	TBB8_HUMAN	229	V	A	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	2	R	K	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	300	M	I	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	345	L	F	Polymorphism	-
Q3ZCM7	TBB8_HUMAN	255	V	M	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	363	M	T	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	262	R	Q	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	176	S	L	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	285	T	P	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	417	D	N	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	210	I	V	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	238	T	M	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	348	N	S	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCM7	TBB8_HUMAN	262	R	W	Disease	Oocyte maturation defect 2 (OOMD2) [MIM:616780]
Q3ZCN5	OTOGL_HUMAN	2276	C	F	Unclassified	A breast cancer sample
Q3ZCN5	OTOGL_HUMAN	1378	C	R	Polymorphism	-
Q3ZCQ2	AX2R_HUMAN	119	Q	R	Polymorphism	-
Q3ZCQ2	AX2R_HUMAN	186	R	W	Polymorphism	-
Q3ZCQ3	F174B_HUMAN	116	S	L	Polymorphism	-
Q3ZCQ8	TIM50_HUMAN	149	T	M	Unclassified	3-methylglutaconic aciduria 9 (MGCA9) [MIM:617698]
Q3ZCQ8	TIM50_HUMAN	114	R	W	Unclassified	3-methylglutaconic aciduria 9 (MGCA9) [MIM:617698]
Q3ZCT8	KBTBC_HUMAN	22	Q	K	Polymorphism	-
Q3ZCV2	LEXM_HUMAN	205	H	Y	Polymorphism	-
Q3ZCV2	LEXM_HUMAN	126	G	C	Polymorphism	-
Q3ZCX4	ZN568_HUMAN	642	Q	R	Polymorphism	-
Q3ZCX4	ZN568_HUMAN	437	M	T	Polymorphism	-
Q400G9	AMZ1_HUMAN	491	R	H	Polymorphism	-
Q401N2	ZACN_HUMAN	152	A	T	Polymorphism	-
Q460N3	PAR15_HUMAN	628	G	R	Polymorphism	-
Q460N3	PAR15_HUMAN	337	R	K	Polymorphism	-
Q460N3	PAR15_HUMAN	521	A	T	Polymorphism	-
Q494R4	CC153_HUMAN	101	R	H	Polymorphism	-
Q494U1	PKHN1_HUMAN	487	R	P	Polymorphism	-
Q494X3	ZN404_HUMAN	233	H	Y	Polymorphism	-
Q494X3	ZN404_HUMAN	337	G	S	Polymorphism	-
Q495A1	TIGIT_HUMAN	33	I	V	Polymorphism	-
Q495B1	AKD1A_HUMAN	355	K	E	Polymorphism	-
Q495C1	RN212_HUMAN	263	V	I	Polymorphism	-
Q495D7	CL036_HUMAN	76	A	E	Polymorphism	-
Q495D7	CL036_HUMAN	84	I	V	Polymorphism	-
Q495D7	CL036_HUMAN	38	P	L	Polymorphism	-
Q495M3	S36A2_HUMAN	445	A	V	Polymorphism	-
Q495M3	S36A2_HUMAN	87	G	V	Disease	Iminoglycinuria (IG) [MIM:242600]
Q495M3	S36A2_HUMAN	87	G	V	Disease	Hyperglycinuria (HG) [MIM:138500]
Q495M9	USH1G_HUMAN	48	L	P	Disease	Usher syndrome 1G (USH1G) [MIM:606943]
Q495M9	USH1G_HUMAN	458	D	V	Disease	Usher syndrome 1G (USH1G) [MIM:606943]
Q495M9	USH1G_HUMAN	104	M	V	Disease	-
Q495N2	S36A3_HUMAN	190	R	H	Polymorphism	-
Q495N2	S36A3_HUMAN	167	K	E	Polymorphism	-
Q495N2	S36A3_HUMAN	185	P	S	Polymorphism	-
Q495N2	S36A3_HUMAN	421	S	F	Polymorphism	-
Q495N2	S36A3_HUMAN	415	E	D	Polymorphism	-
Q495T6	MMEL1_HUMAN	518	M	T	Polymorphism	-
Q495W5	FUT11_HUMAN	51	S	A	Polymorphism	-
Q495Z4	ASAS1_HUMAN	114	C	R	Polymorphism	-
Q495Z4	ASAS1_HUMAN	32	S	R	Polymorphism	-
Q496A3	SPAS1_HUMAN	8	G	R	Polymorphism	-
Q496F6	CLM2_HUMAN	27	T	A	Unclassified	A colorectal cancer sample
Q496F6	CLM2_HUMAN	158	G	R	Polymorphism	-
Q496F6	CLM2_HUMAN	19	K	T	Polymorphism	-
Q496J9	SV2C_HUMAN	543	D	N	Polymorphism	-
Q496J9	SV2C_HUMAN	482	T	S	Polymorphism	-
Q496Y0	LONF3_HUMAN	122	A	G	Unclassified	A breast cancer sample
Q499Z3	SLNL1_HUMAN	30	A	T	Polymorphism	-
Q499Z3	SLNL1_HUMAN	128	R	S	Polymorphism	-
Q499Z3	SLNL1_HUMAN	144	R	T	Polymorphism	-
Q49A26	GLYR1_HUMAN	459	Q	H	Polymorphism	-
Q49A26	GLYR1_HUMAN	103	N	D	Polymorphism	-
Q49A26	GLYR1_HUMAN	531	Y	C	Polymorphism	-
Q49A88	CCD14_HUMAN	365	T	P	Polymorphism	-
Q49A92	CH034_HUMAN	512	A	T	Polymorphism	-
Q49A92	CH034_HUMAN	161	K	N	Unclassified	A colorectal cancer sample
Q49AA0	ZFP69_HUMAN	113	V	L	Polymorphism	-
Q49AG3	ZBED5_HUMAN	47	Q	R	Polymorphism	-
Q49AG3	ZBED5_HUMAN	17	A	V	Polymorphism	-
Q49AG3	ZBED5_HUMAN	480	I	V	Polymorphism	-
Q49AG3	ZBED5_HUMAN	77	P	S	Polymorphism	-
Q49AJ0	F135B_HUMAN	578	S	N	Polymorphism	-
Q49AJ0	F135B_HUMAN	477	I	V	Polymorphism	-
Q49AJ0	F135B_HUMAN	846	D	N	Polymorphism	-
Q49AJ0	F135B_HUMAN	1142	V	I	Polymorphism	-
Q49AM1	MTEF2_HUMAN	81	A	G	Polymorphism	-
Q49AM1	MTEF2_HUMAN	31	A	V	Polymorphism	-
Q49AM1	MTEF2_HUMAN	198	V	I	Polymorphism	-
Q49AM1	MTEF2_HUMAN	14	L	V	Polymorphism	-
Q49AM3	TTC31_HUMAN	28	A	V	Polymorphism	-
Q49AM3	TTC31_HUMAN	205	T	P	Polymorphism	-
Q49AR2	CE022_HUMAN	405	D	E	Polymorphism	-
Q49AR2	CE022_HUMAN	235	T	P	Polymorphism	-
Q49MG5	MAP9_HUMAN	177	R	W	Polymorphism	-
Q49MG5	MAP9_HUMAN	146	M	V	Polymorphism	-
Q49MG5	MAP9_HUMAN	499	K	R	Polymorphism	-
Q49MG5	MAP9_HUMAN	601	N	D	Polymorphism	-
Q49MI3	CERKL_HUMAN	514	E	G	Polymorphism	-
Q49MI3	CERKL_HUMAN	106	R	S	Disease	Retinitis pigmentosa 26 (RP26) [MIM:608380]
Q49MI3	CERKL_HUMAN	232	L	F	Polymorphism	-
Q4AC94	C2CD3_HUMAN	1297	Y	C	Polymorphism	-
Q4AC94	C2CD3_HUMAN	1663	S	N	Polymorphism	-
Q4AC94	C2CD3_HUMAN	773	P	R	Polymorphism	-
Q4AC94	C2CD3_HUMAN	1832	R	G	Polymorphism	-
Q4AC94	C2CD3_HUMAN	1831	G	W	Polymorphism	-
Q4AC94	C2CD3_HUMAN	1219	R	Q	Polymorphism	-
Q4AC94	C2CD3_HUMAN	997	R	Q	Polymorphism	-
Q4AC94	C2CD3_HUMAN	1029	C	G	Disease	Orofaciodigital syndrome 14 (OFD14) [MIM:615948]
Q4AC94	C2CD3_HUMAN	1743	G	C	Polymorphism	-
Q4AC99	1A1L2_HUMAN	529	C	R	Polymorphism	-
Q4AE62	GTDC1_HUMAN	137	M	I	Polymorphism	-
Q4FZB7	KMT5B_HUMAN	513	A	V	Unclassified	Mental retardation, autosomal dominant 51 (MRD51) [MIM:617788]
Q4FZB7	KMT5B_HUMAN	264	W	S	Unclassified	Mental retardation, autosomal dominant 51 (MRD51) [MIM:617788]
Q4FZB7	KMT5B_HUMAN	540	R	Q	Unclassified	Mental retardation, autosomal dominant 51 (MRD51) [MIM:617788]
Q4FZB7	KMT5B_HUMAN	9	N	I	Polymorphism	-
Q4G0A6	MINY4_HUMAN	465	C	Y	Polymorphism	-
Q4G0A6	MINY4_HUMAN	322	T	M	Polymorphism	-
Q4G0A6	MINY4_HUMAN	262	S	L	Polymorphism	-
Q4G0A6	MINY4_HUMAN	355	A	V	Polymorphism	-
Q4G0A6	MINY4_HUMAN	324	R	K	Polymorphism	-
Q4G0A6	MINY4_HUMAN	655	M	V	Polymorphism	-
Q4G0A6	MINY4_HUMAN	183	D	A	Polymorphism	-
Q4G0N8	SL9C1_HUMAN	158	I	V	Polymorphism	-
Q4G0N8	SL9C1_HUMAN	705	T	I	Polymorphism	-
Q4G0N8	SL9C1_HUMAN	424	T	A	Polymorphism	-
Q4G0N8	SL9C1_HUMAN	364	I	V	Polymorphism	-
Q4G0N8	SL9C1_HUMAN	732	Q	K	Polymorphism	-
Q4G0N8	SL9C1_HUMAN	768	S	I	Polymorphism	-
Q4G0N8	SL9C1_HUMAN	826	G	S	Polymorphism	-
Q4G0N8	SL9C1_HUMAN	348	I	M	Polymorphism	-
Q4G0N8	SL9C1_HUMAN	286	I	V	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2298	R	G	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	1228	V	L	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2694	I	S	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2589	K	R	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2502	L	S	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2242	Q	R	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2932	P	L	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2530	K	E	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	3899	V	M	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2087	R	C	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	3869	M	R	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	1077	I	V	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	451	R	P	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	3291	A	P	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	3316	L	P	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	3739	A	T	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2939	R	K	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2276	Q	R	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	4088	K	R	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	3742	V	I	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	690	T	A	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2994	E	G	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	724	N	D	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	3840	V	L	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	1718	V	M	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2445	N	I	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	1534	I	V	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2455	P	Q	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	3269	Y	D	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	4005	T	A	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	4606	N	K	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	1892	R	H	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	4552	M	L	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2306	E	G	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	3116	T	R	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	4412	K	E	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	584	T	N	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	3811	R	H	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2937	E	K	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2570	D	N	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	4869	R	Q	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	4363	S	C	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2099	V	M	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	4160	E	Q	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	1952	R	Q	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	4270	H	Y	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	2558	G	E	Polymorphism	-
Q4G0P3	HYDIN_HUMAN	4026	A	T	Polymorphism	-
Q4G0S4	C27C1_HUMAN	359	T	M	Polymorphism	-
Q4G0S7	CC152_HUMAN	251	R	H	Polymorphism	-
Q4G0U5	PCDP1_HUMAN	795	M	I	Polymorphism	-
Q4G0U5	PCDP1_HUMAN	637	V	I	Polymorphism	-
Q4G0X9	CCD40_HUMAN	8	A	P	Polymorphism	-
Q4G0Z9	MCMD2_HUMAN	583	S	A	Polymorphism	-
Q4G0Z9	MCMD2_HUMAN	322	L	V	Polymorphism	-
Q4G0Z9	MCMD2_HUMAN	137	M	K	Polymorphism	-
Q4G112	HSF5_HUMAN	473	S	N	Polymorphism	-
Q4G112	HSF5_HUMAN	329	N	T	Polymorphism	-
Q4G163	FBX43_HUMAN	139	P	R	Polymorphism	-
Q4G163	FBX43_HUMAN	139	P	L	Polymorphism	-
Q4G176	ACSF3_HUMAN	359	E	K	Disease	Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
Q4G176	ACSF3_HUMAN	358	T	I	Disease	Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
Q4G176	ACSF3_HUMAN	480	G	S	Disease	Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
Q4G176	ACSF3_HUMAN	2	L	P	Polymorphism	-
Q4G176	ACSF3_HUMAN	198	M	R	Disease	Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
Q4G176	ACSF3_HUMAN	558	R	W	Disease	Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
Q4G176	ACSF3_HUMAN	372	V	M	Polymorphism	-
Q4G176	ACSF3_HUMAN	462	K	T	Disease	Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
Q4G176	ACSF3_HUMAN	471	R	W	Disease	Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
Q4G176	ACSF3_HUMAN	471	R	Q	Disease	Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
Q4G176	ACSF3_HUMAN	243	P	L	Disease	Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
Q4G176	ACSF3_HUMAN	17	A	P	Polymorphism	-
Q4KMG0	CDON_HUMAN	790	T	A	Disease	Holoprosencephaly 11 (HPE11) [MIM:614226]
Q4KMG0	CDON_HUMAN	940	S	R	Disease	Holoprosencephaly 11 (HPE11) [MIM:614226]
Q4KMG0	CDON_HUMAN	689	P	A	Disease	Holoprosencephaly 11 (HPE11) [MIM:614226]
Q4KMG0	CDON_HUMAN	162	E	K	Polymorphism	-
Q4KMG0	CDON_HUMAN	686	A	V	Polymorphism	-
Q4KMG0	CDON_HUMAN	780	V	E	Disease	Holoprosencephaly 11 (HPE11) [MIM:614226]
Q4KMG0	CDON_HUMAN	691	V	M	Disease	Holoprosencephaly 11 (HPE11) [MIM:614226]
Q4KMG0	CDON_HUMAN	66	K	R	Polymorphism	-
Q4KMG0	CDON_HUMAN	684	T	S	Disease	Holoprosencephaly 11 (HPE11) [MIM:614226]
Q4KMG0	CDON_HUMAN	351	P	A	Polymorphism	-
Q4KMQ2	ANO6_HUMAN	128	A	T	Polymorphism	-
Q4KMZ1	IQCC_HUMAN	217	C	Y	Polymorphism	-
Q4KMZ1	IQCC_HUMAN	464	P	L	Polymorphism	-
Q4KMZ1	IQCC_HUMAN	209	F	C	Polymorphism	-
Q4L180	FIL1L_HUMAN	168	R	H	Polymorphism	-
Q4L180	FIL1L_HUMAN	884	A	P	Polymorphism	-
Q4L235	ACSF4_HUMAN	368	K	R	Polymorphism	-
Q4L235	ACSF4_HUMAN	747	A	V	Polymorphism	-
Q4L235	ACSF4_HUMAN	1030	Y	D	Polymorphism	-
Q4L235	ACSF4_HUMAN	61	I	V	Polymorphism	-
Q4L235	ACSF4_HUMAN	865	T	A	Polymorphism	-
Q4L235	ACSF4_HUMAN	774	V	I	Polymorphism	-
Q4L235	ACSF4_HUMAN	93	P	R	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	1157	I	V	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	507	V	I	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	1330	L	M	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	637	I	V	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	899	K	R	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	3161	F	I	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	1648	L	V	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	2750	A	V	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	1416	K	Q	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	3559	T	M	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	1953	R	K	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	2922	I	V	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	3230	P	T	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	428	G	S	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	1810	E	A	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	2607	T	A	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	581	Q	H	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	1444	M	L	Polymorphism	-
Q4LDE5	SVEP1_HUMAN	332	G	A	Polymorphism	-
Q4LDG9	DNAL1_HUMAN	150	N	S	Disease	Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017]
Q4LDR2	CTXN3_HUMAN	17	E	V	Polymorphism	-
Q4LDR2	CTXN3_HUMAN	23	M	I	Polymorphism	-
Q4LEZ3	AARD_HUMAN	96	G	R	Polymorphism	-
Q4U2R6	RM51_HUMAN	102	M	I	Polymorphism	-
Q4U2R8	S22A6_HUMAN	7	L	P	Polymorphism	-
Q4U2R8	S22A6_HUMAN	104	P	L	Polymorphism	-
Q4U2R8	S22A6_HUMAN	50	R	H	Polymorphism	-
Q4U2R8	S22A6_HUMAN	293	R	W	Polymorphism	-
Q4V328	GRAP1_HUMAN	179	L	P	Polymorphism	-
Q4V9L6	TM119_HUMAN	72	I	T	Polymorphism	-
Q4VC05	BCL7A_HUMAN	120	N	T	Polymorphism	-
Q4VC12	MSS51_HUMAN	417	L	P	Polymorphism	-
Q4VNC0	AT135_HUMAN	739	G	S	Polymorphism	-
Q4VNC0	AT135_HUMAN	96	S	Y	Polymorphism	-
Q4VNC0	AT135_HUMAN	1204	K	Q	Polymorphism	-
Q4VNC0	AT135_HUMAN	1131	V	A	Polymorphism	-
Q4VNC0	AT135_HUMAN	133	E	Q	Polymorphism	-
Q4VNC0	AT135_HUMAN	1053	I	V	Polymorphism	-
Q4VNC1	AT134_HUMAN	646	E	D	Polymorphism	-
Q4VNC1	AT134_HUMAN	181	I	M	Polymorphism	-
Q4VNC1	AT134_HUMAN	353	V	A	Polymorphism	-
Q4VX76	SYTL3_HUMAN	587	L	Q	Polymorphism	-
Q4VX76	SYTL3_HUMAN	414	P	S	Polymorphism	-
Q4VX76	SYTL3_HUMAN	540	V	I	Polymorphism	-
Q4VXU2	PAP1L_HUMAN	212	S	A	Polymorphism	-
Q4VXU2	PAP1L_HUMAN	492	S	G	Polymorphism	-
Q4W5G0	TIGD2_HUMAN	475	H	R	Polymorphism	-
Q4W5P6	TM155_HUMAN	11	A	V	Polymorphism	-
Q4ZG55	GREB1_HUMAN	359	F	L	Polymorphism	-
Q4ZG55	GREB1_HUMAN	632	A	T	Polymorphism	-
Q4ZG55	GREB1_HUMAN	346	V	M	Polymorphism	-
Q4ZG55	GREB1_HUMAN	1814	L	V	Polymorphism	-
Q4ZG55	GREB1_HUMAN	1687	D	N	Polymorphism	-
Q4ZG55	GREB1_HUMAN	122	V	A	Polymorphism	-
Q4ZG55	GREB1_HUMAN	1463	Y	C	Polymorphism	-
Q4ZG55	GREB1_HUMAN	973	R	Q	Polymorphism	-
Q4ZG55	GREB1_HUMAN	77	N	T	Polymorphism	-
Q4ZHG4	FNDC1_HUMAN	1280	Q	R	Polymorphism	-
Q4ZHG4	FNDC1_HUMAN	463	E	Q	Polymorphism	-
Q4ZHG4	FNDC1_HUMAN	1504	T	K	Polymorphism	-
Q4ZHG4	FNDC1_HUMAN	1180	D	E	Polymorphism	-
Q4ZHG4	FNDC1_HUMAN	1574	T	A	Polymorphism	-
Q4ZHG4	FNDC1_HUMAN	1261	L	P	Polymorphism	-
Q4ZHG4	FNDC1_HUMAN	438	T	A	Polymorphism	-
Q4ZHG4	FNDC1_HUMAN	1003	Q	E	Polymorphism	-
Q4ZJI4	SL9B1_HUMAN	33	Q	H	Polymorphism	-
Q502W6	VWA3B_HUMAN	677	L	V	Polymorphism	-
Q502W6	VWA3B_HUMAN	1245	R	K	Polymorphism	-
Q502W6	VWA3B_HUMAN	42	L	M	Polymorphism	-
Q502W6	VWA3B_HUMAN	885	V	M	Polymorphism	-
Q502W6	VWA3B_HUMAN	181	R	W	Polymorphism	-
Q502W6	VWA3B_HUMAN	1103	I	M	Polymorphism	-
Q502W6	VWA3B_HUMAN	1277	T	I	Polymorphism	-
Q502W6	VWA3B_HUMAN	622	K	T	Disease	Spinocerebellar ataxia, autosomal recessive, 22 (SCAR22) [MIM:616948]
Q502W6	VWA3B_HUMAN	1223	D	E	Polymorphism	-
Q502W7	CCD38_HUMAN	227	M	V	Polymorphism	-
Q502W7	CCD38_HUMAN	36	V	F	Polymorphism	-
Q502X0	MORN2_HUMAN	48	E	K	Polymorphism	-
Q504Q3	PAN2_HUMAN	32	S	N	Polymorphism	-
Q504Q3	PAN2_HUMAN	179	I	L	Polymorphism	-
Q504Q3	PAN2_HUMAN	1201	A	V	Unclassified	A colorectal cancer sample
Q504Y0	S39AC_HUMAN	471	P	T	Unclassified	A breast cancer sample
Q504Y0	S39AC_HUMAN	244	T	M	Polymorphism	-
Q504Y0	S39AC_HUMAN	435	F	L	Polymorphism	-
Q504Y0	S39AC_HUMAN	36	S	G	Polymorphism	-
Q504Y0	S39AC_HUMAN	304	V	I	Polymorphism	-
Q504Y3	ZCPW2_HUMAN	202	L	Q	Polymorphism	-
Q52LG2	KR132_HUMAN	26	R	C	Polymorphism	-
Q52LG2	KR132_HUMAN	74	S	R	Polymorphism	-
Q52LW3	RHG29_HUMAN	1255	G	D	Polymorphism	-
Q52LW3	RHG29_HUMAN	552	S	C	Unclassified	A breast cancer sample
Q52LW3	RHG29_HUMAN	1192	P	L	Polymorphism	-
Q52M58	CN177_HUMAN	33	V	A	Polymorphism	-
Q52M58	CN177_HUMAN	3	R	W	Polymorphism	-
Q52M75	CE027_HUMAN	85	R	C	Polymorphism	-
Q52M93	Z585B_HUMAN	467	V	I	Polymorphism	-
Q52MB2	CC184_HUMAN	140	E	D	Polymorphism	-
Q52WX2	SBK1_HUMAN	92	K	E	Unclassified	An ovarian mucinous carcinoma sample
Q52WX2	SBK1_HUMAN	250	N	T	Polymorphism	-
Q52WX2	SBK1_HUMAN	261	A	S	Polymorphism	-
Q52WX2	SBK1_HUMAN	12	R	H	Polymorphism	-
Q537H7	SPT45_HUMAN	8	I	T	Polymorphism	-
Q53EL6	PDCD4_HUMAN	36	I	V	Polymorphism	-
Q53EL6	PDCD4_HUMAN	48	S	Y	Polymorphism	-
Q53EL6	PDCD4_HUMAN	120	G	R	Unclassified	A breast cancer sample
Q53EL9	SEZ6_HUMAN	592	V	A	Polymorphism	-
Q53EL9	SEZ6_HUMAN	756	L	V	Polymorphism	-
Q53EL9	SEZ6_HUMAN	330	A	V	Polymorphism	-
Q53EL9	SEZ6_HUMAN	736	Y	N	Polymorphism	-
Q53EL9	SEZ6_HUMAN	806	M	T	Polymorphism	-
Q53EL9	SEZ6_HUMAN	546	T	A	Polymorphism	-
Q53EL9	SEZ6_HUMAN	300	V	M	Polymorphism	-
Q53EP0	FND3B_HUMAN	927	P	S	Unclassified	A breast cancer sample
Q53EP0	FND3B_HUMAN	1080	M	V	Polymorphism	-
Q53EP0	FND3B_HUMAN	179	T	S	Polymorphism	-
Q53EQ6	TIGD5_HUMAN	568	M	I	Polymorphism	-
Q53ET0	CRTC2_HUMAN	147	M	V	Polymorphism	-
Q53ET0	CRTC2_HUMAN	379	R	C	Polymorphism	-
Q53EV4	LRC23_HUMAN	317	V	E	Polymorphism	-
Q53EV4	LRC23_HUMAN	124	R	L	Polymorphism	-
Q53EV4	LRC23_HUMAN	65	N	H	Polymorphism	-
Q53EZ4	CEP55_HUMAN	378	H	L	Polymorphism	-
Q53EZ4	CEP55_HUMAN	99	T	A	Polymorphism	-
Q53EZ4	CEP55_HUMAN	236	C	R	Polymorphism	-
Q53EZ4	CEP55_HUMAN	57	H	Q	Polymorphism	-
Q53F39	MPPE1_HUMAN	138	R	Q	Polymorphism	-
Q53F39	MPPE1_HUMAN	336	M	L	Polymorphism	-
Q53F39	MPPE1_HUMAN	197	V	M	Polymorphism	-
Q53F39	MPPE1_HUMAN	268	A	P	Polymorphism	-
Q53FA7	QORX_HUMAN	223	E	K	Polymorphism	-
Q53FA7	QORX_HUMAN	180	M	K	Unclassified	A breast cancer sample
Q53FE4	CD017_HUMAN	91	E	K	Polymorphism	-
Q53FE4	CD017_HUMAN	85	S	P	Polymorphism	-
Q53FE4	CD017_HUMAN	64	G	E	Polymorphism	-
Q53FT3	HIKES_HUMAN	47	P	A	Polymorphism	-
Q53FT3	HIKES_HUMAN	54	V	L	Disease	Leukodystrophy, hypomyelinating, 13 (HLD13) [MIM:616881]
Q53FZ2	ACSM3_HUMAN	270	D	H	Polymorphism	-
Q53FZ2	ACSM3_HUMAN	367	K	N	Polymorphism	-
Q53FZ2	ACSM3_HUMAN	100	L	P	Polymorphism	-
Q53FZ2	ACSM3_HUMAN	308	P	T	Polymorphism	-
Q53G44	IF44L_HUMAN	104	A	T	Polymorphism	-
Q53G44	IF44L_HUMAN	148	R	C	Polymorphism	-
Q53G44	IF44L_HUMAN	235	I	T	Polymorphism	-
Q53G44	IF44L_HUMAN	390	M	I	Polymorphism	-
Q53G44	IF44L_HUMAN	296	R	C	Polymorphism	-
Q53G44	IF44L_HUMAN	73	H	R	Polymorphism	-
Q53G44	IF44L_HUMAN	217	V	I	Polymorphism	-
Q53G59	KLH12_HUMAN	72	P	L	Polymorphism	-
Q53GD3	CTL4_HUMAN	397	P	S	Polymorphism	-
Q53GD3	CTL4_HUMAN	187	V	I	Polymorphism	-
Q53GD3	CTL4_HUMAN	347	A	T	Unclassified	A colorectal cancer sample
Q53GD3	CTL4_HUMAN	128	G	E	Polymorphism	-
Q53GD3	CTL4_HUMAN	493	R	C	Polymorphism	-
Q53GD3	CTL4_HUMAN	411	T	M	Unclassified	A colorectal cancer sample
Q53GD3	CTL4_HUMAN	326	M	V	Polymorphism	-
Q53GD3	CTL4_HUMAN	123	D	V	Polymorphism	-
Q53GD3	CTL4_HUMAN	156	M	V	Disease	Deafness, autosomal dominant, 72 (DFNA72) [MIM:617606]
Q53GD3	CTL4_HUMAN	6	R	L	Polymorphism	-
Q53GG5	PDLI3_HUMAN	127	V	M	Polymorphism	-
Q53GI3	ZN394_HUMAN	325	T	M	Polymorphism	-
Q53GL0	PKHO1_HUMAN	21	P	A	Polymorphism	-
Q53GL7	PAR10_HUMAN	249	I	V	Polymorphism	-
Q53GL7	PAR10_HUMAN	395	L	P	Polymorphism	-
Q53GL7	PAR10_HUMAN	630	V	A	Polymorphism	-
Q53GQ0	DHB12_HUMAN	280	S	L	Polymorphism	-
Q53GS7	GLE1_HUMAN	684	I	T	Disease	Congenital arthrogryposis with anterior horn cell disease (CAAHD) [MIM:611890]
Q53GS7	GLE1_HUMAN	617	V	M	Disease	Congenital arthrogryposis with anterior horn cell disease (CAAHD) [MIM:611890]
Q53GS7	GLE1_HUMAN	130	G	D	Polymorphism	-
Q53GS7	GLE1_HUMAN	590	R	Q	Polymorphism	-
Q53GS7	GLE1_HUMAN	243	I	V	Polymorphism	-
Q53GS7	GLE1_HUMAN	569	R	H	Disease	Lethal congenital contracture syndrome 1 (LCCS1) [MIM:253310]
Q53GT1	KLH22_HUMAN	20	P	Q	Unclassified	-
Q53H12	AGK_HUMAN	3	V	M	Polymorphism	-
Q53H54	TYW2_HUMAN	28	W	R	Polymorphism	-
Q53H76	PLA1A_HUMAN	110	R	H	Polymorphism	-
Q53H76	PLA1A_HUMAN	23	S	I	Polymorphism	-
Q53H76	PLA1A_HUMAN	284	S	N	Polymorphism	-
Q53H96	P5CR3_HUMAN	150	K	N	Polymorphism	-
Q53H96	P5CR3_HUMAN	57	R	Q	Polymorphism	-
Q53H96	P5CR3_HUMAN	105	V	M	Polymorphism	-
Q53HC0	CCD92_HUMAN	281	R	H	Polymorphism	-
Q53HC0	CCD92_HUMAN	70	S	C	Polymorphism	-
Q53HC0	CCD92_HUMAN	253	A	T	Polymorphism	-
Q53HC5	KLH26_HUMAN	542	V	M	Polymorphism	-
Q53HL2	BOREA_HUMAN	12	K	N	Polymorphism	-
Q53HV7	SMUG1_HUMAN	105	R	W	Polymorphism	-
Q53HV7	SMUG1_HUMAN	15	G	V	Polymorphism	-
Q53QW1	TEX44_HUMAN	168	E	K	Polymorphism	-
Q53QW1	TEX44_HUMAN	261	S	P	Polymorphism	-
Q53QW1	TEX44_HUMAN	11	V	L	Polymorphism	-
Q53QW1	TEX44_HUMAN	79	Q	R	Polymorphism	-
Q53R12	T4S20_HUMAN	27	A	V	Polymorphism	-
Q53R41	FAKD1_HUMAN	446	C	G	Polymorphism	-
Q53R41	FAKD1_HUMAN	384	E	Q	Polymorphism	-
Q53R41	FAKD1_HUMAN	467	M	V	Polymorphism	-
Q53RD9	FBLN7_HUMAN	119	V	M	Polymorphism	-
Q53RE8	ANR39_HUMAN	113	A	T	Polymorphism	-
Q53RT3	APRV1_HUMAN	49	T	A	Polymorphism	-
Q53S33	BOLA3_HUMAN	67	I	N	Disease	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2) [MIM:614299]
Q53S33	BOLA3_HUMAN	96	H	R	Disease	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2) [MIM:614299]
Q53S58	TM177_HUMAN	32	I	V	Polymorphism	-
Q53S58	TM177_HUMAN	29	G	A	Polymorphism	-
Q53S58	TM177_HUMAN	267	D	E	Polymorphism	-
Q53S99	CB083_HUMAN	104	E	Q	Polymorphism	-
Q53S99	CB083_HUMAN	45	S	L	Polymorphism	-
Q53SZ7	PRR30_HUMAN	222	R	C	Polymorphism	-
Q53SZ7	PRR30_HUMAN	194	R	G	Polymorphism	-
Q53T59	H1BP3_HUMAN	388	A	T	Polymorphism	-
Q53T59	H1BP3_HUMAN	348	P	R	Polymorphism	-
Q53T59	H1BP3_HUMAN	260	V	M	Polymorphism	-
Q53T59	H1BP3_HUMAN	273	G	R	Polymorphism	-
Q53T94	TAF1B_HUMAN	462	E	D	Polymorphism	-
Q53T94	TAF1B_HUMAN	6	A	S	Polymorphism	-
Q53T94	TAF1B_HUMAN	487	T	M	Polymorphism	-
Q53T94	TAF1B_HUMAN	282	V	I	Polymorphism	-
Q53T94	TAF1B_HUMAN	292	R	H	Polymorphism	-
Q53T94	TAF1B_HUMAN	351	T	A	Polymorphism	-
Q53TN4	CYBR1_HUMAN	226	R	H	Polymorphism	-
Q53TN4	CYBR1_HUMAN	266	S	N	Polymorphism	-
Q53TN4	CYBR1_HUMAN	156	M	T	Polymorphism	-
Q53TQ3	IN80D_HUMAN	358	A	V	Polymorphism	-
Q53TS8	C2CD6_HUMAN	123	K	M	Unclassified	A colorectal cancer sample
Q53TS8	C2CD6_HUMAN	376	H	Q	Polymorphism	-
Q562E7	WDR81_HUMAN	856	P	L	Disease	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2) [MIM:610185]
Q562E7	WDR81_HUMAN	282	G	E	Unclassified	Hydrocephalus, congenital, 3, with brain anomalies (HYC3) [MIM:617967]
Q562E7	WDR81_HUMAN	1535	M	V	Polymorphism	-
Q562F6	SGO2_HUMAN	9	G	D	Polymorphism	-
Q562F6	SGO2_HUMAN	343	E	A	Polymorphism	-
Q562F6	SGO2_HUMAN	496	I	V	Polymorphism	-
Q562F6	SGO2_HUMAN	1099	I	T	Polymorphism	-
Q562F6	SGO2_HUMAN	660	N	S	Polymorphism	-
Q562F6	SGO2_HUMAN	1143	H	R	Polymorphism	-
Q567U6	CCD93_HUMAN	315	H	R	Unclassified	A colorectal cancer sample
Q567U6	CCD93_HUMAN	228	P	L	Polymorphism	-
Q567U6	CCD93_HUMAN	179	R	C	Polymorphism	-
Q567U6	CCD93_HUMAN	213	R	C	Polymorphism	-
Q567U6	CCD93_HUMAN	465	Y	H	Polymorphism	-
Q567V2	M17L2_HUMAN	72	M	V	Polymorphism	-
Q569H4	LARGN_HUMAN	110	P	T	Polymorphism	-
Q569K4	Z385B_HUMAN	416	F	Y	Polymorphism	-
Q569K4	Z385B_HUMAN	242	S	G	Polymorphism	-
Q569K6	CC157_HUMAN	587	S	A	Polymorphism	-
Q569K6	CC157_HUMAN	51	D	N	Polymorphism	-
Q569K6	CC157_HUMAN	191	P	L	Polymorphism	-
Q56NI9	ESCO2_HUMAN	80	A	V	Polymorphism	-
Q56NI9	ESCO2_HUMAN	359	Q	P	Polymorphism	-
Q56NI9	ESCO2_HUMAN	539	W	G	Disease	Roberts syndrome (RBS) [MIM:268300]
Q56P03	EAPP_HUMAN	168	Q	E	Polymorphism	-
Q56P42	PYDC2_HUMAN	81	Q	R	Polymorphism	-
Q56UN5	M3K19_HUMAN	676	E	Q	Polymorphism	-
Q56UN5	M3K19_HUMAN	438	T	I	Polymorphism	-
Q56UN5	M3K19_HUMAN	500	I	M	Unclassified	A breast pleomorphic lobular carcinoma sample
Q56UN5	M3K19_HUMAN	812	E	G	Polymorphism	-
Q56VL3	OCAD2_HUMAN	44	R	Q	Polymorphism	-
Q587I9	SFT2C_HUMAN	38	R	G	Polymorphism	-
Q587J8	KHD3L_HUMAN	97	E	Q	Polymorphism	-
Q587J8	KHD3L_HUMAN	201	A	G	Polymorphism	-
Q58DX5	NADL2_HUMAN	385	P	S	Polymorphism	-
Q58DX5	NADL2_HUMAN	128	I	M	Polymorphism	-
Q58DX5	NADL2_HUMAN	622	P	R	Polymorphism	-
Q58DX5	NADL2_HUMAN	194	M	T	Polymorphism	-
Q58DX5	NADL2_HUMAN	677	L	S	Polymorphism	-
Q58DX5	NADL2_HUMAN	68	G	S	Polymorphism	-
Q58EX2	SDK2_HUMAN	376	G	S	Unclassified	-
Q58EX7	PKHG4_HUMAN	830	R	H	Polymorphism	-
Q58EX7	PKHG4_HUMAN	412	T	I	Polymorphism	-
Q58EX7	PKHG4_HUMAN	1064	R	H	Polymorphism	-
Q58EX7	PKHG4_HUMAN	1090	S	T	Polymorphism	-
Q58EX7	PKHG4_HUMAN	525	D	G	Polymorphism	-
Q58F21	BRDT_HUMAN	696	P	L	Polymorphism	-
Q58F21	BRDT_HUMAN	238	K	N	Polymorphism	-
Q58F21	BRDT_HUMAN	336	K	T	Polymorphism	-
Q58F21	BRDT_HUMAN	605	R	Q	Polymorphism	-
Q58F21	BRDT_HUMAN	410	N	K	Polymorphism	-
Q58F21	BRDT_HUMAN	6	R	Q	Polymorphism	-
Q58F21	BRDT_HUMAN	62	Q	K	Polymorphism	-
Q58F21	BRDT_HUMAN	542	P	A	Polymorphism	-
Q58F21	BRDT_HUMAN	2	S	F	Polymorphism	-
Q58F21	BRDT_HUMAN	288	H	Y	Unclassified	A lung neuroendocrine carcinoma sample
Q58F21	BRDT_HUMAN	928	G	D	Unclassified	Spermatogenic failure 21 (SPGF21) [MIM:617644]
Q58F21	BRDT_HUMAN	357	E	K	Polymorphism	-
Q58F21	BRDT_HUMAN	89	A	V	Unclassified	A gastric adenocarcinoma sample
Q58G82	SY14L_HUMAN	97	T	M	Polymorphism	-
Q58WW2	DCAF6_HUMAN	547	V	A	Polymorphism	-
Q59H18	TNI3K_HUMAN	510	V	L	Polymorphism	-
Q59H18	TNI3K_HUMAN	833	D	Y	Polymorphism	-
Q59H18	TNI3K_HUMAN	151	D	H	Polymorphism	-
Q59H18	TNI3K_HUMAN	263	P	L	Polymorphism	-
Q59H18	TNI3K_HUMAN	526	G	D	Disease	Cardiac conduction disease with or without dilated cardiomyopathy (CCDD) [MIM:616117]
Q59H18	TNI3K_HUMAN	309	F	L	Polymorphism	-
Q59H18	TNI3K_HUMAN	686	I	T	Polymorphism	-
Q59H18	TNI3K_HUMAN	629	R	G	Unclassified	A colorectal cancer sample
Q59H18	TNI3K_HUMAN	785	A	G	Polymorphism	-
Q59H18	TNI3K_HUMAN	798	M	I	Unclassified	A head & Neck squamous cell carcinoma sample
Q59H18	TNI3K_HUMAN	637	T	M	Polymorphism	-
Q59H18	TNI3K_HUMAN	430	S	L	Unclassified	A colorectal adenocarcinoma sample
Q5BIV9	SPRN_HUMAN	7	T	M	Polymorphism	-
Q5BJE1	CC178_HUMAN	42	A	T	Polymorphism	-
Q5BJE1	CC178_HUMAN	420	D	N	Polymorphism	-
Q5BJE1	CC178_HUMAN	600	L	R	Polymorphism	-
Q5BJE1	CC178_HUMAN	601	D	N	Polymorphism	-
Q5BJE1	CC178_HUMAN	465	V	E	Polymorphism	-
Q5BJF6	ODFP2_HUMAN	710	T	S	Polymorphism	-
Q5BJH2	TM128_HUMAN	16	L	I	Polymorphism	-
Q5BJH7	YIF1B_HUMAN	56	P	S	Polymorphism	-
Q5BKX6	S45A4_HUMAN	277	P	L	Polymorphism	-
Q5BKX6	S45A4_HUMAN	718	N	D	Polymorphism	-
Q5BVD1	TTMP_HUMAN	111	I	V	Polymorphism	-
Q5BVD1	TTMP_HUMAN	66	L	P	Polymorphism	-
Q5BVD1	TTMP_HUMAN	144	G	S	Polymorphism	-
Q5C9Z4	NOM1_HUMAN	804	V	L	Polymorphism	-
Q5C9Z4	NOM1_HUMAN	812	V	M	Polymorphism	-
Q5C9Z4	NOM1_HUMAN	779	R	H	Polymorphism	-
Q5C9Z4	NOM1_HUMAN	24	R	G	Polymorphism	-
Q5C9Z4	NOM1_HUMAN	122	H	P	Polymorphism	-
Q5C9Z4	NOM1_HUMAN	723	M	V	Polymorphism	-
Q5CZA5	ZN805_HUMAN	68	G	E	Polymorphism	-
Q5CZC0	FSIP2_HUMAN	2764	P	T	Polymorphism	-
Q5CZC0	FSIP2_HUMAN	306	M	V	Polymorphism	-
Q5CZC0	FSIP2_HUMAN	700	L	F	Polymorphism	-
Q5D0E6	DALD3_HUMAN	299	Q	R	Polymorphism	-
Q5D1E8	ZC12A_HUMAN	547	G	D	Polymorphism	-
Q5D1E8	ZC12A_HUMAN	240	V	M	Polymorphism	-
Q5D862	FILA2_HUMAN	723	E	K	Polymorphism	-
Q5D862	FILA2_HUMAN	137	G	E	Polymorphism	-
Q5D862	FILA2_HUMAN	41	L	F	Polymorphism	-
Q5D862	FILA2_HUMAN	1249	H	R	Polymorphism	-
Q5D862	FILA2_HUMAN	958	S	Y	Polymorphism	-
Q5D862	FILA2_HUMAN	1992	E	D	Polymorphism	-
Q5D862	FILA2_HUMAN	276	R	Q	Polymorphism	-
Q5D862	FILA2_HUMAN	298	C	S	Polymorphism	-
Q5D862	FILA2_HUMAN	107	R	Q	Polymorphism	-
Q5D862	FILA2_HUMAN	881	Y	S	Polymorphism	-
Q5D862	FILA2_HUMAN	2239	Q	H	Polymorphism	-
Q5DID0	UROL1_HUMAN	1208	D	N	Polymorphism	-
Q5DID0	UROL1_HUMAN	173	V	I	Polymorphism	-
Q5DID0	UROL1_HUMAN	639	I	T	Polymorphism	-
Q5DID0	UROL1_HUMAN	274	N	H	Polymorphism	-
Q5DID0	UROL1_HUMAN	1068	G	S	Polymorphism	-
Q5DID0	UROL1_HUMAN	1309	N	H	Polymorphism	-
Q5DID0	UROL1_HUMAN	698	T	P	Polymorphism	-
Q5DID0	UROL1_HUMAN	850	V	I	Polymorphism	-
Q5DID0	UROL1_HUMAN	1027	S	N	Polymorphism	-
Q5DID0	UROL1_HUMAN	1115	E	K	Polymorphism	-
Q5DID0	UROL1_HUMAN	447	R	Q	Polymorphism	-
Q5DID0	UROL1_HUMAN	559	M	T	Polymorphism	-
Q5DID0	UROL1_HUMAN	274	N	D	Polymorphism	-
Q5DX21	IGS11_HUMAN	388	S	N	Polymorphism	-
Q5DX21	IGS11_HUMAN	39	P	T	Polymorphism	-
Q5DX21	IGS11_HUMAN	333	E	D	Polymorphism	-
Q5EBL8	PDZ11_HUMAN	81	S	Y	Polymorphism	-
Q5EBM0	CMPK2_HUMAN	433	K	R	Polymorphism	-
Q5EG05	CAR16_HUMAN	56	A	D	Polymorphism	-
Q5EG05	CAR16_HUMAN	37	Q	K	Polymorphism	-
Q5EG05	CAR16_HUMAN	33	R	S	Polymorphism	-
Q5EG05	CAR16_HUMAN	167	N	I	Polymorphism	-
Q5F1R6	DJC21_HUMAN	214	D	N	Unclassified	A breast cancer sample
Q5F1R6	DJC21_HUMAN	32	P	A	Disease	Bone marrow failure syndrome 3 (BMFS3) [MIM:617052]
Q5F1R6	DJC21_HUMAN	433	E	K	Polymorphism	-
Q5FBB7	SGO1_HUMAN	23	K	E	Disease	Chronic atrial and intestinal dysrhythmia (CAID) [MIM:616201]
Q5FBB7	SGO1_HUMAN	171	V	A	Polymorphism	-
Q5FBB7	SGO1_HUMAN	322	Q	P	Polymorphism	-
Q5FVE4	ACBG2_HUMAN	650	R	S	Polymorphism	-
Q5FVE4	ACBG2_HUMAN	584	G	D	Polymorphism	-
Q5FVE4	ACBG2_HUMAN	152	K	R	Polymorphism	-
Q5FVE4	ACBG2_HUMAN	601	P	R	Polymorphism	-
Q5FVE4	ACBG2_HUMAN	143	V	A	Polymorphism	-
Q5FVE4	ACBG2_HUMAN	624	R	K	Polymorphism	-
Q5FVE4	ACBG2_HUMAN	626	E	Q	Polymorphism	-
Q5FVE4	ACBG2_HUMAN	586	G	D	Polymorphism	-
Q5FWE3	PRRT3_HUMAN	213	S	P	Polymorphism	-
Q5FWE3	PRRT3_HUMAN	334	R	G	Polymorphism	-
Q5FWE3	PRRT3_HUMAN	233	L	F	Polymorphism	-
Q5FWE3	PRRT3_HUMAN	860	L	I	Polymorphism	-
Q5FWE3	PRRT3_HUMAN	138	Q	E	Polymorphism	-
Q5FWF4	ZRAB3_HUMAN	541	E	K	Polymorphism	-
Q5FWF4	ZRAB3_HUMAN	637	E	V	Polymorphism	-
Q5FWF4	ZRAB3_HUMAN	546	R	Q	Polymorphism	-
Q5FWF5	ESCO1_HUMAN	221	T	M	Polymorphism	-
Q5FWF5	ESCO1_HUMAN	191	N	S	Polymorphism	-
Q5FWF6	ZN789_HUMAN	77	T	A	Polymorphism	-
Q5FWF7	FBX48_HUMAN	16	T	I	Polymorphism	-
Q5FYB0	ARSJ_HUMAN	565	S	R	Polymorphism	-
Q5GAN3	RNS13_HUMAN	139	S	A	Polymorphism	-
Q5GAN6	RNS10_HUMAN	131	S	N	Polymorphism	-
Q5GFL6	VWA2_HUMAN	9	A	T	Polymorphism	-
Q5GFL6	VWA2_HUMAN	131	E	G	Polymorphism	-
Q5GFL6	VWA2_HUMAN	137	L	R	Unclassified	A colorectal cancer sample
Q5GH77	XKR3_HUMAN	232	P	L	Polymorphism	-
Q5GH77	XKR3_HUMAN	255	F	L	Polymorphism	-
Q5GH77	XKR3_HUMAN	143	T	M	Polymorphism	-
Q5GH77	XKR3_HUMAN	442	H	N	Polymorphism	-
Q5GJ75	TP8L3_HUMAN	38	A	T	Polymorphism	-
Q5H8A3	NMS_HUMAN	6	P	S	Polymorphism	-
Q5H8A4	PIGG_HUMAN	610	C	R	Polymorphism	-
Q5H8A4	PIGG_HUMAN	731	V	I	Polymorphism	-
Q5H8A4	PIGG_HUMAN	55	S	Y	Polymorphism	-
Q5H8A4	PIGG_HUMAN	699	V	I	Polymorphism	-
Q5H8A4	PIGG_HUMAN	458	R	H	Polymorphism	-
Q5H8A4	PIGG_HUMAN	932	F	S	Polymorphism	-
Q5H8A4	PIGG_HUMAN	669	R	C	Disease	Mental retardation, autosomal recessive 53 (MRT53) [MIM:616917]
Q5H8A4	PIGG_HUMAN	881	I	T	Polymorphism	-
Q5H8C1	FREM1_HUMAN	1273	D	E	Polymorphism	-
Q5H8C1	FREM1_HUMAN	498	R	Q	Disease	Trigonocephaly 2 (TRIGNO2) [MIM:614485]
Q5H8C1	FREM1_HUMAN	1502	V	M	Polymorphism	-
Q5H8C1	FREM1_HUMAN	102	D	G	Unclassified	Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]
Q5H8C1	FREM1_HUMAN	499	I	V	Polymorphism	-
Q5H8C1	FREM1_HUMAN	649	R	W	Disease	Bifid nose, with or without anorectal and renal anomalies (BNAR) [MIM:608980]
Q5H8C1	FREM1_HUMAN	1324	L	R	Disease	Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]
Q5H8C1	FREM1_HUMAN	1202	S	R	Polymorphism	-
Q5H8C1	FREM1_HUMAN	1576	N	I	Polymorphism	-
Q5H8C1	FREM1_HUMAN	2091	V	I	Disease	Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]
Q5H8C1	FREM1_HUMAN	803	S	Y	Polymorphism	-
Q5H8C1	FREM1_HUMAN	1440	G	S	Disease	Bifid nose, with or without anorectal and renal anomalies (BNAR) [MIM:608980]
Q5H8C1	FREM1_HUMAN	1500	E	V	Disease	Trigonocephaly 2 (TRIGNO2) [MIM:614485]
Q5H8C1	FREM1_HUMAN	2143	Q	P	Polymorphism	-
Q5H8C1	FREM1_HUMAN	439	V	L	Polymorphism	-
Q5H8C1	FREM1_HUMAN	863	L	V	Polymorphism	-
Q5H8C1	FREM1_HUMAN	2174	V	G	Polymorphism	-
Q5H9F3	BCORL_HUMAN	111	F	L	Polymorphism	-
Q5H9F3	BCORL_HUMAN	820	N	S	Unclassified	-
Q5H9F3	BCORL_HUMAN	209	G	S	Polymorphism	-
Q5H9F3	BCORL_HUMAN	327	T	I	Unclassified	-
Q5H9F3	BCORL_HUMAN	832	G	D	Unclassified	A breast cancer sample
Q5H9K5	ZMAT1_HUMAN	214	R	K	Polymorphism	-
Q5H9K5	ZMAT1_HUMAN	536	Q	R	Polymorphism	-
Q5H9L4	TAF7L_HUMAN	458	R	H	Polymorphism	-
Q5H9L4	TAF7L_HUMAN	308	S	G	Polymorphism	-
Q5H9L4	TAF7L_HUMAN	61	E	K	Polymorphism	-
Q5H9L4	TAF7L_HUMAN	34	L	P	Polymorphism	-
Q5H9M0	PWP3B_HUMAN	95	G	D	Polymorphism	-
Q5H9R4	ARMX4_HUMAN	188	R	G	Polymorphism	-
Q5H9R7	PP6R3_HUMAN	842	A	V	Polymorphism	-
Q5H9S7	DCA17_HUMAN	185	H	Q	Polymorphism	-
Q5H9T9	FSCB_HUMAN	764	Q	K	Unclassified	A breast cancer sample
Q5H9T9	FSCB_HUMAN	775	S	L	Unclassified	A breast cancer sample
Q5H9T9	FSCB_HUMAN	119	P	S	Polymorphism	-
Q5H9T9	FSCB_HUMAN	262	T	R	Unclassified	A breast cancer sample
Q5H9T9	FSCB_HUMAN	642	A	T	Polymorphism	-
Q5H9T9	FSCB_HUMAN	423	D	E	Polymorphism	-
Q5H9T9	FSCB_HUMAN	409	P	S	Polymorphism	-
Q5H9T9	FSCB_HUMAN	380	L	P	Polymorphism	-
Q5H9T9	FSCB_HUMAN	195	H	Q	Polymorphism	-
Q5H9U9	DDX6L_HUMAN	409	V	L	Polymorphism	-
Q5H9U9	DDX6L_HUMAN	583	A	T	Polymorphism	-
Q5H9U9	DDX6L_HUMAN	355	N	K	Polymorphism	-
Q5H9U9	DDX6L_HUMAN	336	C	Y	Polymorphism	-
Q5H9U9	DDX6L_HUMAN	1080	S	C	Polymorphism	-
Q5HY64	FA47C_HUMAN	924	N	T	Polymorphism	-
Q5HY92	FIGN_HUMAN	448	R	C	Polymorphism	-
Q5HY92	FIGN_HUMAN	565	K	R	Polymorphism	-
Q5HY92	FIGN_HUMAN	96	S	L	Polymorphism	-
Q5HY98	ZN766_HUMAN	95	C	Y	Polymorphism	-
Q5HYA8	MKS3_HUMAN	820	R	S	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	82	P	R	Unclassified	Joubert syndrome 6 (JBTS6) [MIM:610688]
Q5HYA8	MKS3_HUMAN	82	P	S	Unclassified	Joubert syndrome 6 (JBTS6) [MIM:610688]
Q5HYA8	MKS3_HUMAN	437	L	V	Polymorphism	-
Q5HYA8	MKS3_HUMAN	615	C	R	Disease	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	513	Y	C	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	821	G	S	Disease	Nephronophthisis 11 (NPHP11) [MIM:613550]
Q5HYA8	MKS3_HUMAN	615	C	R	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	242	N	T	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	604	I	V	Polymorphism	-
Q5HYA8	MKS3_HUMAN	372	T	K	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	569	G	D	Polymorphism	-
Q5HYA8	MKS3_HUMAN	245	S	F	Unclassified	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	257	M	V	Unclassified	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	821	G	R	Disease	Nephronophthisis 11 (NPHP11) [MIM:613550]
Q5HYA8	MKS3_HUMAN	130	P	R	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	739	L	R	Unclassified	-
Q5HYA8	MKS3_HUMAN	833	I	T	Disease	Joubert syndrome 6 (JBTS6) [MIM:610688]
Q5HYA8	MKS3_HUMAN	637	F	L	Unclassified	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	430	D	G	Disease	RHYNS syndrome (RHYNS) [MIM:602152]
Q5HYA8	MKS3_HUMAN	349	L	S	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	124	E	K	Polymorphism	-
Q5HYA8	MKS3_HUMAN	320	S	C	Polymorphism	-
Q5HYA8	MKS3_HUMAN	376	Q	P	Disease	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	440	R	Q	Disease	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	261	D	N	Polymorphism	-
Q5HYA8	MKS3_HUMAN	833	I	T	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	843	Y	C	Disease	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	590	F	S	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	90	N	K	Unclassified	-
Q5HYA8	MKS3_HUMAN	301	D	E	Polymorphism	-
Q5HYA8	MKS3_HUMAN	668	W	R	Disease	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	290	W	L	Disease	Nephronophthisis 11 (NPHP11) [MIM:613550]
Q5HYA8	MKS3_HUMAN	485	P	S	Unclassified	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	376	Q	E	Unclassified	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	252	M	T	Disease	Joubert syndrome 6 (JBTS6) [MIM:610688]
Q5HYA8	MKS3_HUMAN	616	A	V	Polymorphism	-
Q5HYA8	MKS3_HUMAN	942	F	C	Unclassified	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	440	R	Q	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	99	K	N	Unclassified	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	349	L	S	Disease	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	711	D	A	Disease	Joubert syndrome 6 (JBTS6) [MIM:610688]
Q5HYA8	MKS3_HUMAN	358	P	L	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	441	R	L	Disease	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	782	H	R	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	252	M	T	Disease	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	966	L	P	Disease	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	441	R	C	Unclassified	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	218	G	A	Polymorphism	-
Q5HYA8	MKS3_HUMAN	786	G	E	Disease	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	545	G	E	Disease	Joubert syndrome 6 (JBTS6) [MIM:610688]
Q5HYA8	MKS3_HUMAN	615	C	R	Disease	Nephronophthisis 11 (NPHP11) [MIM:613550]
Q5HYA8	MKS3_HUMAN	841	Q	P	Unclassified	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	172	R	Q	Unclassified	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	132	G	A	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	358	P	L	Disease	Joubert syndrome 6 (JBTS6) [MIM:610688]
Q5HYA8	MKS3_HUMAN	728	S	G	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	513	Y	C	Disease	Joubert syndrome 6 (JBTS6) [MIM:610688]
Q5HYA8	MKS3_HUMAN	54	Y	C	Unclassified	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	296	W	C	Unclassified	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYA8	MKS3_HUMAN	252	M	T	Disease	COACH syndrome (COACHS) [MIM:216360]
Q5HYA8	MKS3_HUMAN	513	Y	C	Disease	Meckel syndrome 3 (MKS3) [MIM:607361]
Q5HYI7	MTX3_HUMAN	238	S	R	Polymorphism	-
Q5HYJ1	TECRL_HUMAN	169	Y	H	Polymorphism	-
Q5HYJ1	TECRL_HUMAN	196	R	Q	Unclassified	Ventricular tachycardia, catecholaminergic polymorphic, 3 (CPVT3) [MIM:614021]
Q5HYK3	COQ5_HUMAN	152	A	T	Polymorphism	-
Q5HYK9	ZN667_HUMAN	134	P	L	Polymorphism	-
Q5HYK9	ZN667_HUMAN	260	K	R	Polymorphism	-
Q5HYK9	ZN667_HUMAN	540	T	A	Polymorphism	-
Q5HYW2	NHSL2_HUMAN	901	T	I	Polymorphism	-
Q5HYW3	RTL5_HUMAN	420	S	R	Polymorphism	-
Q5I0G3	MDH1B_HUMAN	48	L	I	Unclassified	-
Q5I0G3	MDH1B_HUMAN	515	T	A	Polymorphism	-
Q5I0G3	MDH1B_HUMAN	510	E	D	Polymorphism	-
Q5I7T1	AG10B_HUMAN	383	S	N	Polymorphism	-
Q5I7T1	AG10B_HUMAN	446	I	V	Polymorphism	-
Q5I7T1	AG10B_HUMAN	84	A	G	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	187	E	D	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	709	V	A	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	116	P	L	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	746	H	Q	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	46	P	L	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	351	A	T	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	145	M	T	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	534	R	Q	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	159	G	A	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	620	C	S	Disease	Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220]
Q5IJ48	CRUM2_HUMAN	1110	T	M	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	800	N	K	Disease	Ventriculomegaly with cystic kidney disease (VMCKD) [MIM:219730]
Q5IJ48	CRUM2_HUMAN	628	R	C	Disease	Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220]
Q5IJ48	CRUM2_HUMAN	610	R	W	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	1249	R	Q	Disease	Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220]
Q5IJ48	CRUM2_HUMAN	643	E	A	Disease	Ventriculomegaly with cystic kidney disease (VMCKD) [MIM:219730]
Q5IJ48	CRUM2_HUMAN	633	R	W	Disease	Ventriculomegaly with cystic kidney disease (VMCKD) [MIM:219730]
Q5IJ48	CRUM2_HUMAN	97	V	L	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	90	T	N	Polymorphism	-
Q5IJ48	CRUM2_HUMAN	629	C	S	Disease	Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220]
Q5J8M3	EMC4_HUMAN	98	P	T	Polymorphism	-
Q5J8X5	M4A13_HUMAN	58	P	L	Polymorphism	-
Q5J8X5	M4A13_HUMAN	7	I	V	Polymorphism	-
Q5J8X5	M4A13_HUMAN	3	G	D	Polymorphism	-
Q5JNZ3	ZN311_HUMAN	511	K	Q	Polymorphism	-
Q5JNZ3	ZN311_HUMAN	486	R	C	Polymorphism	-
Q5JPB2	ZN831_HUMAN	1513	S	P	Polymorphism	-
Q5JPB2	ZN831_HUMAN	845	G	R	Polymorphism	-
Q5JPB2	ZN831_HUMAN	1615	R	H	Polymorphism	-
Q5JPE7	NOMO2_HUMAN	493	V	M	Polymorphism	-
Q5JPE7	NOMO2_HUMAN	580	V	M	Polymorphism	-
Q5JPH6	SYEM_HUMAN	204	G	S	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	55	R	H	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	317	G	C	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	168	R	G	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	110	G	S	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	65	K	E	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	224	G	S	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	457	S	G	Polymorphism	-
Q5JPH6	SYEM_HUMAN	489	R	Q	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	107	R	C	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	167	C	Y	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	107	R	H	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	516	R	Q	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	108	R	W	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6	SYEM_HUMAN	96	E	K	Disease	Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPI9	EFMT2_HUMAN	67	R	Q	Polymorphism	-
Q5JQC9	AKAP4_HUMAN	233	H	R	Polymorphism	-
Q5JQC9	AKAP4_HUMAN	673	A	G	Polymorphism	-
Q5JQD4	PYY3_HUMAN	28	T	I	Polymorphism	-
Q5JQF7	CF100_HUMAN	41	G	E	Polymorphism	-
Q5JQS5	OR2BB_HUMAN	293	T	I	Polymorphism	-
Q5JQS5	OR2BB_HUMAN	300	D	G	Polymorphism	-
Q5JQS5	OR2BB_HUMAN	130	I	S	Polymorphism	-
Q5JQS5	OR2BB_HUMAN	223	G	D	Polymorphism	-
Q5JQS5	OR2BB_HUMAN	198	V	M	Polymorphism	-
Q5JR12	PPM1J_HUMAN	236	V	I	Polymorphism	-
Q5JR12	PPM1J_HUMAN	213	L	F	Polymorphism	-
Q5JR59	MTUS2_HUMAN	1071	L	Q	Polymorphism	-
Q5JR59	MTUS2_HUMAN	955	P	H	Polymorphism	-
Q5JRA6	TGO1_HUMAN	605	K	R	Polymorphism	-
Q5JRA6	TGO1_HUMAN	482	K	E	Polymorphism	-
Q5JRA6	TGO1_HUMAN	1659	G	C	Polymorphism	-
Q5JRA6	TGO1_HUMAN	881	E	G	Polymorphism	-
Q5JRA6	TGO1_HUMAN	1723	K	E	Polymorphism	-
Q5JRC9	FA47A_HUMAN	377	A	S	Polymorphism	-
Q5JRC9	FA47A_HUMAN	50	F	L	Polymorphism	-
Q5JRC9	FA47A_HUMAN	232	V	E	Polymorphism	-
Q5JRC9	FA47A_HUMAN	531	G	R	Polymorphism	-
Q5JRM2	CX066_HUMAN	233	P	L	Polymorphism	-
Q5JRS4	O10J3_HUMAN	235	Q	R	Polymorphism	-
Q5JRV8	T255A_HUMAN	345	P	Q	Polymorphism	-
Q5JRX3	PREP_HUMAN	969	P	L	Polymorphism	-
Q5JRX3	PREP_HUMAN	1037	Q	R	Polymorphism	-
Q5JRX3	PREP_HUMAN	963	V	I	Polymorphism	-
Q5JRX3	PREP_HUMAN	328	I	V	Polymorphism	-
Q5JRX3	PREP_HUMAN	8	Q	R	Polymorphism	-
Q5JRX3	PREP_HUMAN	516	Q	H	Polymorphism	-
Q5JRX3	PREP_HUMAN	621	V	I	Polymorphism	-
Q5JRX3	PREP_HUMAN	169	F	S	Polymorphism	-
Q5JRX3	PREP_HUMAN	952	I	M	Polymorphism	-
Q5JRX3	PREP_HUMAN	554	A	D	Polymorphism	-
Q5JRX3	PREP_HUMAN	397	A	V	Polymorphism	-
Q5JRX3	PREP_HUMAN	145	L	V	Polymorphism	-
Q5JRX3	PREP_HUMAN	805	R	Q	Polymorphism	-
Q5JS13	RGPS1_HUMAN	290	S	N	Polymorphism	-
Q5JS37	NHLC3_HUMAN	221	L	R	Polymorphism	-
Q5JSH3	WDR44_HUMAN	289	A	T	Polymorphism	-
Q5JSH3	WDR44_HUMAN	296	T	A	Polymorphism	-
Q5JSJ4	INT6L_HUMAN	769	I	V	Polymorphism	-
Q5JSL3	DOC11_HUMAN	813	I	F	Polymorphism	-
Q5JSP0	FGD3_HUMAN	275	V	I	Polymorphism	-
Q5JSS6	MEIG1_HUMAN	9	K	T	Polymorphism	-
Q5JST6	EFHC2_HUMAN	507	E	Q	Polymorphism	-
Q5JST6	EFHC2_HUMAN	57	C	Y	Polymorphism	-
Q5JST6	EFHC2_HUMAN	208	E	K	Polymorphism	-
Q5JST6	EFHC2_HUMAN	31	N	S	Polymorphism	-
Q5JST6	EFHC2_HUMAN	430	S	Y	Polymorphism	-
Q5JSZ5	PRC2B_HUMAN	417	M	V	Polymorphism	-
Q5JSZ5	PRC2B_HUMAN	1630	S	T	Polymorphism	-
Q5JSZ5	PRC2B_HUMAN	1675	L	P	Polymorphism	-
Q5JT82	KLF17_HUMAN	57	S	T	Polymorphism	-
Q5JT82	KLF17_HUMAN	35	I	N	Polymorphism	-
Q5JT82	KLF17_HUMAN	156	N	S	Polymorphism	-
Q5JT82	KLF17_HUMAN	80	Q	H	Polymorphism	-
Q5JTC6	AMER1_HUMAN	278	A	S	Polymorphism	-
Q5JTC6	AMER1_HUMAN	178	R	C	Polymorphism	-
Q5JTC6	AMER1_HUMAN	292	K	N	Polymorphism	-
Q5JTC6	AMER1_HUMAN	159	F	L	Polymorphism	-
Q5JTH9	RRP12_HUMAN	1145	G	S	Polymorphism	-
Q5JTH9	RRP12_HUMAN	1281	R	Q	Polymorphism	-
Q5JTJ3	COA6_HUMAN	59	W	C	Disease	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4) [MIM:616501]
Q5JTJ3	COA6_HUMAN	66	W	R	Disease	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4) [MIM:616501]
Q5JTN6	WDR38_HUMAN	172	H	R	Polymorphism	-
Q5JTN6	WDR38_HUMAN	193	A	G	Polymorphism	-
Q5JTV8	TOIP1_HUMAN	276	P	R	Polymorphism	-
Q5JTV8	TOIP1_HUMAN	293	Q	H	Polymorphism	-
Q5JTV8	TOIP1_HUMAN	146	M	T	Polymorphism	-
Q5JTV8	TOIP1_HUMAN	190	V	I	Unclassified	A breast cancer sample
Q5JTZ9	SYAM_HUMAN	155	L	R	Disease	Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]
Q5JTZ9	SYAM_HUMAN	199	R	C	Unclassified	-
Q5JTZ9	SYAM_HUMAN	592	R	W	Disease	Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]
Q5JTZ9	SYAM_HUMAN	50	F	C	Disease	Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
Q5JTZ9	SYAM_HUMAN	850	M	V	Polymorphism	-
Q5JTZ9	SYAM_HUMAN	484	A	D	Polymorphism	-
Q5JTZ9	SYAM_HUMAN	730	V	M	Unclassified	-
Q5JTZ9	SYAM_HUMAN	405	E	K	Disease	Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
Q5JTZ9	SYAM_HUMAN	965	G	R	Disease	Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
Q5JTZ9	SYAM_HUMAN	77	A	V	Unclassified	-
Q5JTZ9	SYAM_HUMAN	339	I	V	Polymorphism	-
Q5JU00	DRC5_HUMAN	53	H	R	Polymorphism	-
Q5JU00	DRC5_HUMAN	35	P	L	Polymorphism	-
Q5JU00	DRC5_HUMAN	261	F	S	Polymorphism	-
Q5JU67	CF157_HUMAN	483	Y	S	Polymorphism	-
Q5JU69	TOR2A_HUMAN	203	K	E	Polymorphism	-
Q5JU85	IQEC2_HUMAN	359	R	C	Disease	Mental retardation, X-linked 1 (MRX1) [MIM:309530]
Q5JU85	IQEC2_HUMAN	801	Q	P	Disease	Mental retardation, X-linked 1 (MRX1) [MIM:309530]
Q5JU85	IQEC2_HUMAN	863	R	W	Disease	Mental retardation, X-linked 1 (MRX1) [MIM:309530]
Q5JU85	IQEC2_HUMAN	789	A	V	Disease	Mental retardation, X-linked 1 (MRX1) [MIM:309530]
Q5JU85	IQEC2_HUMAN	758	R	Q	Disease	Mental retardation, X-linked 1 (MRX1) [MIM:309530]
Q5JUK2	SOLH1_HUMAN	177	P	T	Unclassified	Spermatogenic failure 32 (SPGF32) [MIM:618115]
Q5JUK2	SOLH1_HUMAN	37	R	Q	Polymorphism	-
Q5JUK2	SOLH1_HUMAN	31	C	R	Unclassified	Spermatogenic failure 32 (SPGF32) [MIM:618115]
Q5JUK2	SOLH1_HUMAN	269	P	S	Polymorphism	-
Q5JUK3	KCNT1_HUMAN	562	T	I	Unclassified	Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]
Q5JUK3	KCNT1_HUMAN	915	A	T	Disease	Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]
Q5JUK3	KCNT1_HUMAN	409	R	Q	Disease	Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]
Q5JUK3	KCNT1_HUMAN	497	M	V	Disease	Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]
Q5JUK3	KCNT1_HUMAN	909	R	C	Disease	Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]
Q5JUK3	KCNT1_HUMAN	741	I	M	Disease	Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]
Q5JUK3	KCNT1_HUMAN	455	R	H	Disease	Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]
Q5JUK3	KCNT1_HUMAN	877	M	K	Unclassified	Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]
Q5JUK3	KCNT1_HUMAN	269	G	S	Disease	Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]
Q5JUK3	KCNT1_HUMAN	928	K	E	Disease	Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]
Q5JUK3	KCNT1_HUMAN	379	R	Q	Disease	Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]
Q5JUK3	KCNT1_HUMAN	877	M	I	Disease	Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]
Q5JUK3	KCNT1_HUMAN	1088	R	Q	Unclassified	Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]
Q5JUK3	KCNT1_HUMAN	947	A	T	Disease	Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]
Q5JUK3	KCNT1_HUMAN	777	Y	H	Disease	Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]
Q5JUK9	PAGE3_HUMAN	53	G	S	Polymorphism	-
Q5JUK9	PAGE3_HUMAN	35	N	D	Polymorphism	-
Q5JVG2	ZN484_HUMAN	502	G	D	Polymorphism	-
Q5JVG8	ZN506_HUMAN	189	T	P	Polymorphism	-
Q5JVL4	EFHC1_HUMAN	372	R	W	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	322	E	K	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	118	R	C	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	153	R	Q	Unclassified	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	174	I	V	Polymorphism	-
Q5JVL4	EFHC1_HUMAN	353	R	W	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	519	N	S	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	253	D	Y	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	378	K	E	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	436	R	C	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	485	Y	H	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	448	M	T	Polymorphism	-
Q5JVL4	EFHC1_HUMAN	631	Y	C	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	229	F	L	Unclassified	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	357	E	K	Polymorphism	-
Q5JVL4	EFHC1_HUMAN	619	I	S	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	77	P	T	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	394	A	S	Unclassified	-
Q5JVL4	EFHC1_HUMAN	259	C	Y	Polymorphism	-
Q5JVL4	EFHC1_HUMAN	210	D	N	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	294	R	H	Polymorphism	-
Q5JVL4	EFHC1_HUMAN	159	R	W	Polymorphism	-
Q5JVL4	EFHC1_HUMAN	285	R	I	Polymorphism	-
Q5JVL4	EFHC1_HUMAN	619	I	L	Polymorphism	-
Q5JVL4	EFHC1_HUMAN	556	V	L	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	89	H	R	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	355	Y	C	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	221	R	C	Polymorphism	-
Q5JVL4	EFHC1_HUMAN	182	R	C	Unclassified	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	221	R	H	Disease	Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
Q5JVL4	EFHC1_HUMAN	182	R	H	Polymorphism	-
Q5JVX7	CA141_HUMAN	189	V	I	Polymorphism	-
Q5JVX7	CA141_HUMAN	85	E	G	Polymorphism	-
Q5JWF2	GNAS1_HUMAN	1023	R	L	Polymorphism	-
Q5JWF2	GNAS1_HUMAN	436	A	D	Disease	GNAS hyperfunction (GNASHYP) [MIM:139320]
Q5JWF2	GNAS1_HUMAN	459	P	R	Disease	GNAS hyperfunction (GNASHYP) [MIM:139320]
Q5JWR5	DOP1_HUMAN	1781	Q	L	Polymorphism	-
Q5JWR5	DOP1_HUMAN	1155	D	H	Unclassified	A breast cancer sample
Q5JWR5	DOP1_HUMAN	596	R	Q	Polymorphism	-
Q5JX69	F209B_HUMAN	129	E	A	Polymorphism	-
Q5JX69	F209B_HUMAN	74	Q	K	Polymorphism	-
Q5JX69	F209B_HUMAN	84	E	K	Polymorphism	-
Q5JX71	F209A_HUMAN	135	R	G	Polymorphism	-
Q5JX71	F209A_HUMAN	146	R	K	Polymorphism	-
Q5JX71	F209A_HUMAN	117	M	K	Polymorphism	-
Q5JX71	F209A_HUMAN	95	L	F	Polymorphism	-
Q5JX71	F209A_HUMAN	66	V	A	Polymorphism	-
Q5JXA9	SIRB2_HUMAN	215	E	A	Polymorphism	-
Q5JXA9	SIRB2_HUMAN	304	L	F	Polymorphism	-
Q5JXA9	SIRB2_HUMAN	153	G	E	Polymorphism	-
Q5JXC2	MIIP_HUMAN	247	R	W	Polymorphism	-
Q5JXC2	MIIP_HUMAN	167	K	E	Polymorphism	-
Q5JXC2	MIIP_HUMAN	142	P	S	Polymorphism	-
Q5JXC2	MIIP_HUMAN	381	P	S	Polymorphism	-
Q5JXC2	MIIP_HUMAN	99	K	N	Polymorphism	-
Q5JXC2	MIIP_HUMAN	288	S	L	Polymorphism	-
Q5JXM2	MET24_HUMAN	281	L	F	Polymorphism	-
Q5JY77	GASP1_HUMAN	1093	P	S	Polymorphism	-
Q5JY77	GASP1_HUMAN	315	A	G	Polymorphism	-
Q5JY77	GASP1_HUMAN	779	I	V	Polymorphism	-
Q5JYT7	K1755_HUMAN	940	E	K	Polymorphism	-
Q5JYT7	K1755_HUMAN	339	K	N	Polymorphism	-
Q5JYT7	K1755_HUMAN	415	P	L	Polymorphism	-
Q5JYT7	K1755_HUMAN	633	A	V	Polymorphism	-
Q5JYT7	K1755_HUMAN	1045	R	W	Polymorphism	-
Q5JZY3	EPHAA_HUMAN	629	L	P	Polymorphism	-
Q5JZY3	EPHAA_HUMAN	103	V	L	Polymorphism	-
Q5JZY3	EPHAA_HUMAN	281	F	I	Polymorphism	-
Q5JZY3	EPHAA_HUMAN	749	G	E	Polymorphism	-
Q5JZY3	EPHAA_HUMAN	956	A	T	Polymorphism	-
Q5JZY3	EPHAA_HUMAN	775	H	R	Unclassified	A breast infiltrating ductal carcinoma sample
Q5JZY3	EPHAA_HUMAN	150	R	H	Unclassified	A gastric adenocarcinoma sample
Q5JZY3	EPHAA_HUMAN	630	L	P	Polymorphism	-
Q5JZY3	EPHAA_HUMAN	645	V	I	Polymorphism	-
Q5JZY3	EPHAA_HUMAN	220	T	K	Polymorphism	-
Q5JZY3	EPHAA_HUMAN	807	R	Q	Polymorphism	-
Q5K131	CLLU1_HUMAN	9	S	F	Polymorphism	-
Q5K4L6	S27A3_HUMAN	63	G	A	Polymorphism	-
Q5K4L6	S27A3_HUMAN	392	R	H	Polymorphism	-
Q5K651	SAMD9_HUMAN	1280	P	L	Disease	MIRAGE syndrome (MIRAGE) [MIM:617053]
Q5K651	SAMD9_HUMAN	834	N	Y	Disease	MIRAGE syndrome (MIRAGE) [MIM:617053]
Q5K651	SAMD9_HUMAN	143	I	T	Polymorphism	-
Q5K651	SAMD9_HUMAN	449	N	S	Polymorphism	-
Q5K651	SAMD9_HUMAN	459	R	Q	Disease	MIRAGE syndrome (MIRAGE) [MIM:617053]
Q5K651	SAMD9_HUMAN	769	D	N	Disease	MIRAGE syndrome (MIRAGE) [MIM:617053]
Q5K651	SAMD9_HUMAN	1286	Q	K	Disease	MIRAGE syndrome (MIRAGE) [MIM:617053]
Q5K651	SAMD9_HUMAN	1195	A	V	Disease	MIRAGE syndrome (MIRAGE) [MIM:617053]
Q5K651	SAMD9_HUMAN	1293	R	W	Disease	MIRAGE syndrome (MIRAGE) [MIM:617053]
Q5K651	SAMD9_HUMAN	1495	K	E	Disease	Tumoral calcinosis, normophosphatemic, familial (NFTC) [MIM:610455]
Q5K651	SAMD9_HUMAN	549	V	L	Polymorphism	-
Q5K651	SAMD9_HUMAN	974	E	K	Disease	MIRAGE syndrome (MIRAGE) [MIM:617053]
Q5KSL6	DGKK_HUMAN	1118	D	N	Polymorphism	-
Q5KU26	COL12_HUMAN	91	K	E	Polymorphism	-
Q5KU26	COL12_HUMAN	522	S	P	Polymorphism	-
Q5KU26	COL12_HUMAN	606	G	S	Polymorphism	-
Q5KU26	COL12_HUMAN	487	I	V	Polymorphism	-
Q5M775	CYTSB_HUMAN	769	D	N	Polymorphism	-
Q5M775	CYTSB_HUMAN	293	M	L	Polymorphism	-
Q5M775	CYTSB_HUMAN	274	S	R	Polymorphism	-
Q5M9N0	CD158_HUMAN	232	E	D	Polymorphism	-
Q5M9N0	CD158_HUMAN	297	I	V	Polymorphism	-
Q5M9Q1	NKAPL_HUMAN	398	E	G	Polymorphism	-
Q5M9Q1	NKAPL_HUMAN	96	Y	C	Polymorphism	-
Q5M9Q1	NKAPL_HUMAN	152	T	N	Polymorphism	-
Q5M9Q1	NKAPL_HUMAN	162	H	Y	Polymorphism	-
Q5MAI5	CDKL4_HUMAN	228	F	C	Polymorphism	-
Q5MAI5	CDKL4_HUMAN	38	S	P	Polymorphism	-
Q5MAI5	CDKL4_HUMAN	307	R	C	Polymorphism	-
Q5MAI5	CDKL4_HUMAN	118	H	Y	Polymorphism	-
Q5MAI5	CDKL4_HUMAN	288	S	Y	Polymorphism	-
Q5MAI5	CDKL4_HUMAN	53	R	H	Polymorphism	-
Q5MCW4	ZN569_HUMAN	87	E	G	Unclassified	A breast cancer sample
Q5MCW4	ZN569_HUMAN	29	Q	E	Unclassified	A breast cancer sample
Q5MIZ7	P4R3B_HUMAN	293	S	T	Polymorphism	-
Q5MIZ7	P4R3B_HUMAN	503	I	V	Polymorphism	-
Q5MJ08	SPXN4_HUMAN	48	K	N	Polymorphism	-
Q5MJ09	SPXN3_HUMAN	89	V	I	Polymorphism	-
Q5MJ09	SPXN3_HUMAN	43	K	N	Polymorphism	-
Q5MJ10	SPXN2_HUMAN	8	T	I	Polymorphism	-
Q5MNV8	FBX47_HUMAN	209	Q	R	Polymorphism	-
Q5MNV8	FBX47_HUMAN	182	R	G	Unclassified	-
Q5MNZ9	WIPI1_HUMAN	308	R	H	Polymorphism	-
Q5MNZ9	WIPI1_HUMAN	31	T	I	Polymorphism	-
Q5MY95	ENTP8_HUMAN	62	L	P	Polymorphism	-
Q5MY95	ENTP8_HUMAN	428	E	K	Polymorphism	-
Q5NDL2	EOGT_HUMAN	207	W	S	Disease	Adams-Oliver syndrome 4 (AOS4) [MIM:615297]
Q5NDL2	EOGT_HUMAN	377	R	Q	Disease	Adams-Oliver syndrome 4 (AOS4) [MIM:615297]
Q5NE16	CATL3_HUMAN	123	S	G	Polymorphism	-
Q5NUL3	FFAR4_HUMAN	270	R	H	Polymorphism	-
Q5NUL3	FFAR4_HUMAN	67	R	C	Polymorphism	-
Q5PT55	NTCP5_HUMAN	287	I	T	Polymorphism	-
Q5QGS0	NEXMI_HUMAN	1112	I	T	Polymorphism	-
Q5QGT7	RTP2_HUMAN	82	Q	R	Polymorphism	-
Q5QGZ9	CL12A_HUMAN	244	K	Q	Polymorphism	-
Q5QJ38	TCHL1_HUMAN	193	A	G	Polymorphism	-
Q5QJE6	TDIF2_HUMAN	676	Y	F	Polymorphism	-
Q5QJE6	TDIF2_HUMAN	477	G	E	Polymorphism	-
Q5QJE6	TDIF2_HUMAN	430	A	V	Polymorphism	-
Q5QJE6	TDIF2_HUMAN	341	T	A	Polymorphism	-
Q5QJE6	TDIF2_HUMAN	309	E	D	Polymorphism	-
Q5QJU3	ACER2_HUMAN	134	A	V	Polymorphism	-
Q5R372	RBG1L_HUMAN	277	S	G	Polymorphism	-
Q5R387	PA2GC_HUMAN	139	Q	R	Polymorphism	-
Q5R3I4	TTC38_HUMAN	243	F	L	Polymorphism	-
Q5R3K3	CAHM6_HUMAN	80	G	R	Polymorphism	-
Q5R3K3	CAHM6_HUMAN	100	T	A	Polymorphism	-
Q5R3K3	CAHM6_HUMAN	293	E	K	Polymorphism	-
Q5RHP9	ERIC3_HUMAN	636	I	V	Polymorphism	-
Q5RHP9	ERIC3_HUMAN	264	P	A	Polymorphism	-
Q5RHP9	ERIC3_HUMAN	555	R	H	Polymorphism	-
Q5RHP9	ERIC3_HUMAN	1528	V	M	Polymorphism	-
Q5RHP9	ERIC3_HUMAN	691	H	R	Polymorphism	-
Q5RHP9	ERIC3_HUMAN	1056	L	V	Polymorphism	-
Q5RI15	COX20_HUMAN	52	T	P	Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q5RI15	COX20_HUMAN	118	N	S	Polymorphism	-
Q5RIA9	CBWD5_HUMAN	288	E	D	Polymorphism	-
Q5RIA9	CBWD5_HUMAN	147	T	A	Polymorphism	-
Q5S007	LRRK2_HUMAN	1398	R	H	Polymorphism	-
Q5S007	LRRK2_HUMAN	119	L	P	Polymorphism	-
Q5S007	LRRK2_HUMAN	944	D	Y	Polymorphism	-
Q5S007	LRRK2_HUMAN	1371	I	V	Unclassified	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	551	N	K	Polymorphism	-
Q5S007	LRRK2_HUMAN	1122	I	V	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1096	S	C	Unclassified	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	50	R	H	Polymorphism	-
Q5S007	LRRK2_HUMAN	871	K	E	Polymorphism	-
Q5S007	LRRK2_HUMAN	1514	R	Q	Unclassified	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1228	S	T	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1647	S	T	Polymorphism	-
Q5S007	LRRK2_HUMAN	1628	R	P	Polymorphism	-
Q5S007	LRRK2_HUMAN	1441	R	C	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	2395	E	K	Polymorphism	-
Q5S007	LRRK2_HUMAN	2012	I	T	Unclassified	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	930	Q	R	Unclassified	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1699	Y	C	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1646	M	T	Polymorphism	-
Q5S007	LRRK2_HUMAN	1869	M	T	Unclassified	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	2261	N	I	Polymorphism	-
Q5S007	LRRK2_HUMAN	1441	R	H	Unclassified	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1728	R	H	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1067	R	Q	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1441	R	G	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	793	R	M	Unclassified	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	723	I	V	Polymorphism	-
Q5S007	LRRK2_HUMAN	1359	K	I	Unclassified	-
Q5S007	LRRK2_HUMAN	1728	R	L	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1941	R	H	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1542	P	S	Unclassified	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	2081	N	D	Polymorphism	-
Q5S007	LRRK2_HUMAN	2119	P	L	Polymorphism	-
Q5S007	LRRK2_HUMAN	419	A	V	Polymorphism	-
Q5S007	LRRK2_HUMAN	755	P	L	Polymorphism	-
Q5S007	LRRK2_HUMAN	1262	P	A	Polymorphism	-
Q5S007	LRRK2_HUMAN	2141	T	M	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1375	D	E	Polymorphism	-
Q5S007	LRRK2_HUMAN	716	A	V	Polymorphism	-
Q5S007	LRRK2_HUMAN	2020	I	T	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	2019	G	S	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	2397	M	T	Polymorphism	-
Q5S007	LRRK2_HUMAN	2385	G	R	Polymorphism	-
Q5S007	LRRK2_HUMAN	1550	R	Q	Unclassified	An ovarian mucinous carcinoma sample
Q5S007	LRRK2_HUMAN	2466	L	H	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1598	V	E	Unclassified	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	2356	T	I	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	712	M	V	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	1870	L	F	Polymorphism	-
Q5S007	LRRK2_HUMAN	1906	K	M	Unclassified	-
Q5S007	LRRK2_HUMAN	1723	R	P	Unclassified	An ovarian serous carcinoma sample
Q5S007	LRRK2_HUMAN	2143	R	H	Disease	Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007	LRRK2_HUMAN	228	C	S	Polymorphism	-
Q5SGD2	PPM1L_HUMAN	262	A	S	Polymorphism	-
Q5SNV9	CA167_HUMAN	544	R	Q	Polymorphism	-
Q5SNV9	CA167_HUMAN	782	W	R	Polymorphism	-
Q5SNV9	CA167_HUMAN	1215	R	H	Polymorphism	-
Q5SNV9	CA167_HUMAN	944	R	H	Polymorphism	-
Q5SNV9	CA167_HUMAN	1295	C	S	Polymorphism	-
Q5SNV9	CA167_HUMAN	955	W	R	Polymorphism	-
Q5SNV9	CA167_HUMAN	1451	R	G	Polymorphism	-
Q5SNV9	CA167_HUMAN	800	R	C	Polymorphism	-
Q5SNV9	CA167_HUMAN	602	R	W	Polymorphism	-
Q5SNV9	CA167_HUMAN	453	P	S	Polymorphism	-
Q5SNV9	CA167_HUMAN	848	S	I	Polymorphism	-
Q5SQ64	LY66F_HUMAN	34	P	Q	Polymorphism	-
Q5SQ64	LY66F_HUMAN	39	P	S	Polymorphism	-
Q5SQ64	LY66F_HUMAN	107	A	T	Polymorphism	-
Q5SQ64	LY66F_HUMAN	167	R	K	Polymorphism	-
Q5SQN1	SNP47_HUMAN	119	G	R	Polymorphism	-
Q5SQN1	SNP47_HUMAN	154	V	M	Polymorphism	-
Q5SQN1	SNP47_HUMAN	381	R	C	Polymorphism	-
Q5SQN1	SNP47_HUMAN	48	R	G	Polymorphism	-
Q5SQQ9	VAX1_HUMAN	152	R	S	Disease	Microphthalmia, syndromic, 11 (MCOPS11) [MIM:614402]
Q5SQS7	SH24B_HUMAN	237	H	R	Polymorphism	-
Q5SQS7	SH24B_HUMAN	239	S	L	Polymorphism	-
Q5SQS8	CJ120_HUMAN	269	A	T	Polymorphism	-
Q5SQS8	CJ120_HUMAN	20	T	K	Polymorphism	-
Q5SR56	MF14B_HUMAN	406	V	L	Polymorphism	-
Q5SRE5	NU188_HUMAN	1419	A	V	Polymorphism	-
Q5SRE5	NU188_HUMAN	1587	N	K	Polymorphism	-
Q5SRE7	PHYD1_HUMAN	222	R	W	Polymorphism	-
Q5SRI9	MANEA_HUMAN	331	Y	C	Unclassified	A breast cancer sample
Q5SRN2	TSBP1_HUMAN	266	L	W	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	315	I	V	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	400	K	Q	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	433	A	T	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	128	P	L	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	161	P	L	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	227	S	P	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	69	Y	C	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	30	C	R	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	150	I	F	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	36	Y	H	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	274	P	S	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	170	S	P	Polymorphism	-
Q5SRN2	TSBP1_HUMAN	479	G	V	Polymorphism	-
Q5SSG8	MUC21_HUMAN	285	V	A	Polymorphism	-
Q5SSG8	MUC21_HUMAN	253	G	S	Polymorphism	-
Q5SSG8	MUC21_HUMAN	139	D	E	Polymorphism	-
Q5SSG8	MUC21_HUMAN	323	T	P	Polymorphism	-
Q5SSG8	MUC21_HUMAN	98	V	A	Polymorphism	-
Q5SSG8	MUC21_HUMAN	328	S	N	Polymorphism	-
Q5SSG8	MUC21_HUMAN	289	E	D	Polymorphism	-
Q5SSG8	MUC21_HUMAN	319	D	E	Polymorphism	-
Q5SSG8	MUC21_HUMAN	315	A	V	Polymorphism	-
Q5SSG8	MUC21_HUMAN	244	E	D	Polymorphism	-
Q5SSG8	MUC21_HUMAN	282	I	T	Polymorphism	-
Q5SSG8	MUC21_HUMAN	282	I	V	Polymorphism	-
Q5SSG8	MUC21_HUMAN	161	E	G	Polymorphism	-
Q5SSG8	MUC21_HUMAN	313	N	S	Polymorphism	-
Q5SSQ6	SAPC1_HUMAN	99	P	L	Polymorphism	-
Q5SSQ6	SAPC1_HUMAN	30	P	S	Polymorphism	-
Q5ST30	SYVM_HUMAN	965	A	T	Polymorphism	-
Q5ST30	SYVM_HUMAN	449	W	R	Polymorphism	-
Q5ST30	SYVM_HUMAN	64	G	R	Polymorphism	-
Q5ST30	SYVM_HUMAN	26	H	Y	Polymorphism	-
Q5ST30	SYVM_HUMAN	349	A	T	Disease	Combined oxidative phosphorylation deficiency 20 (COXPD20) [MIM:615917]
Q5ST30	SYVM_HUMAN	917	R	Q	Polymorphism	-
Q5ST30	SYVM_HUMAN	596	A	D	Disease	Combined oxidative phosphorylation deficiency 20 (COXPD20) [MIM:615917]
Q5ST30	SYVM_HUMAN	337	T	I	Disease	Combined oxidative phosphorylation deficiency 20 (COXPD20) [MIM:615917]
Q5ST30	SYVM_HUMAN	765	V	M	Polymorphism	-
Q5ST30	SYVM_HUMAN	1049	R	Q	Polymorphism	-
Q5ST30	SYVM_HUMAN	680	V	L	Polymorphism	-
Q5SV17	TM240_HUMAN	149	E	K	Disease	Spinocerebellar ataxia 21 (SCA21) [MIM:607454]
Q5SV17	TM240_HUMAN	170	P	L	Disease	Spinocerebellar ataxia 21 (SCA21) [MIM:607454]
Q5SV17	TM240_HUMAN	116	R	C	Disease	Spinocerebellar ataxia 21 (SCA21) [MIM:607454]
Q5SV17	TM240_HUMAN	171	R	W	Disease	Spinocerebellar ataxia 21 (SCA21) [MIM:607454]
Q5SV17	TM240_HUMAN	80	T	M	Disease	Spinocerebellar ataxia 21 (SCA21) [MIM:607454]
Q5SVQ8	ZBT41_HUMAN	327	D	Y	Polymorphism	-
Q5SVZ6	ZMYM1_HUMAN	493	E	G	Polymorphism	-
Q5SVZ6	ZMYM1_HUMAN	454	R	Q	Polymorphism	-
Q5SVZ6	ZMYM1_HUMAN	73	V	M	Polymorphism	-
Q5SW24	DACT2_HUMAN	541	T	P	Polymorphism	-
Q5SW24	DACT2_HUMAN	351	E	G	Polymorphism	-
Q5SW79	CE170_HUMAN	213	G	S	Polymorphism	-
Q5SW96	ARH_HUMAN	202	S	P	Polymorphism	-
Q5SW96	ARH_HUMAN	202	S	H	Disease	Hypercholesterolemia, autosomal recessive (ARH) [MIM:603813]
Q5SW96	ARH_HUMAN	56	T	M	Disease	-
Q5SWA1	PR15B_HUMAN	589	K	E	Polymorphism	-
Q5SWA1	PR15B_HUMAN	658	R	C	Disease	Microcephaly, short stature, and impaired glucose metabolism 2 (MSSGM2) [MIM:616817]
Q5SWA1	PR15B_HUMAN	144	E	K	Polymorphism	-
Q5SWA1	PR15B_HUMAN	134	P	S	Unclassified	-
Q5SWA1	PR15B_HUMAN	26	P	S	Polymorphism	-
Q5SWA1	PR15B_HUMAN	363	E	G	Polymorphism	-
Q5SWA1	PR15B_HUMAN	308	N	S	Polymorphism	-
Q5SWX8	ODR4_HUMAN	251	S	C	Polymorphism	-
Q5SXH7	PKHS1_HUMAN	254	S	Y	Polymorphism	-
Q5SXH7	PKHS1_HUMAN	337	V	I	Polymorphism	-
Q5SXM1	ZN678_HUMAN	152	P	T	Polymorphism	-
Q5SXM1	ZN678_HUMAN	144	K	E	Polymorphism	-
Q5SXM1	ZN678_HUMAN	197	T	I	Polymorphism	-
Q5SXM2	SNPC4_HUMAN	799	H	Q	Polymorphism	-
Q5SXM2	SNPC4_HUMAN	1448	P	S	Polymorphism	-
Q5SXM2	SNPC4_HUMAN	44	D	N	Polymorphism	-
Q5SXM8	DNLZ_HUMAN	178	S	T	Polymorphism	-
Q5SXM8	DNLZ_HUMAN	169	P	H	Polymorphism	-
Q5SY16	NOL9_HUMAN	58	S	A	Polymorphism	-
Q5SY16	NOL9_HUMAN	10	R	W	Polymorphism	-
Q5SY16	NOL9_HUMAN	50	W	R	Polymorphism	-
Q5SY16	NOL9_HUMAN	420	I	V	Polymorphism	-
Q5SY80	CTSRE_HUMAN	66	T	K	Polymorphism	-
Q5SY80	CTSRE_HUMAN	56	T	S	Polymorphism	-
Q5SY80	CTSRE_HUMAN	653	T	I	Unclassified	A breast cancer sample
Q5SYB0	FRPD1_HUMAN	44	A	T	Polymorphism	-
Q5SYB0	FRPD1_HUMAN	572	G	D	Unclassified	A breast cancer sample
Q5SYB0	FRPD1_HUMAN	846	Y	D	Polymorphism	-
Q5SYB0	FRPD1_HUMAN	1092	G	E	Polymorphism	-
Q5SYB0	FRPD1_HUMAN	6	T	P	Polymorphism	-
Q5SYB0	FRPD1_HUMAN	50	T	N	Polymorphism	-
Q5SYB0	FRPD1_HUMAN	225	A	V	Polymorphism	-
Q5SYE7	NHSL1_HUMAN	1085	V	M	Polymorphism	-
Q5SYE7	NHSL1_HUMAN	1585	G	S	Polymorphism	-
Q5SZB4	CI050_HUMAN	248	R	K	Polymorphism	-
Q5SZB4	CI050_HUMAN	415	K	R	Polymorphism	-
Q5SZB4	CI050_HUMAN	312	R	Q	Polymorphism	-
Q5SZB4	CI050_HUMAN	381	R	Q	Polymorphism	-
Q5SZD1	CF141_HUMAN	137	Q	E	Polymorphism	-
Q5SZD1	CF141_HUMAN	235	P	L	Polymorphism	-
Q5SZI1	LRAD2_HUMAN	134	N	T	Polymorphism	-
Q5SZK8	FREM2_HUMAN	1039	M	K	Polymorphism	-
Q5SZK8	FREM2_HUMAN	1070	F	S	Polymorphism	-
Q5SZK8	FREM2_HUMAN	868	L	V	Polymorphism	-
Q5SZK8	FREM2_HUMAN	745	S	P	Polymorphism	-
Q5SZK8	FREM2_HUMAN	1972	E	K	Disease	Fraser syndrome 2 (FRASRS2) [MIM:617666]
Q5SZK8	FREM2_HUMAN	2153	T	S	Polymorphism	-
Q5SZK8	FREM2_HUMAN	722	R	K	Polymorphism	-
Q5SZK8	FREM2_HUMAN	2066	R	C	Polymorphism	-
Q5SZK8	FREM2_HUMAN	1045	I	S	Polymorphism	-
Q5SZK8	FREM2_HUMAN	1668	R	H	Polymorphism	-
Q5SZK8	FREM2_HUMAN	770	V	M	Polymorphism	-
Q5SZK8	FREM2_HUMAN	1840	R	W	Polymorphism	-
Q5SZK8	FREM2_HUMAN	2326	T	I	Polymorphism	-
Q5SZK8	FREM2_HUMAN	2962	A	V	Polymorphism	-
Q5SZL2	CE85L_HUMAN	532	Q	H	Polymorphism	-
Q5SZL2	CE85L_HUMAN	640	M	V	Polymorphism	-
Q5SZL2	CE85L_HUMAN	345	S	F	Unclassified	A breast cancer sample
Q5SZL2	CE85L_HUMAN	166	D	V	Polymorphism	-
Q5SZL2	CE85L_HUMAN	137	S	G	Polymorphism	-
Q5SZL2	CE85L_HUMAN	251	P	T	Polymorphism	-
Q5T011	SZT2_HUMAN	499	S	I	Disease	Epileptic encephalopathy, early infantile, 18 (EIEE18) [MIM:615476]
Q5T013	HYI_HUMAN	239	D	N	Polymorphism	-
Q5T035	CI129_HUMAN	191	R	H	Polymorphism	-
Q5T036	F120S_HUMAN	22	L	F	Polymorphism	-
Q5T036	F120S_HUMAN	241	K	E	Polymorphism	-
Q5T089	MORN1_HUMAN	330	H	Y	Polymorphism	-
Q5T089	MORN1_HUMAN	124	L	V	Polymorphism	-
Q5T0F9	C2D1B_HUMAN	35	M	T	Polymorphism	-
Q5T0J3	CA220_HUMAN	3	P	L	Polymorphism	-
Q5T0J7	TEX35_HUMAN	171	L	R	Polymorphism	-
Q5T0J7	TEX35_HUMAN	55	E	G	Polymorphism	-
Q5T0J7	TEX35_HUMAN	171	L	P	Polymorphism	-
Q5T0J7	TEX35_HUMAN	146	A	G	Polymorphism	-
Q5T0L3	SPT46_HUMAN	69	A	V	Polymorphism	-
Q5T0L3	SPT46_HUMAN	217	R	H	Polymorphism	-
Q5T0N1	CFA70_HUMAN	944	N	D	Polymorphism	-
Q5T0N1	CFA70_HUMAN	849	W	L	Polymorphism	-
Q5T0T0	MARH8_HUMAN	266	Y	H	Polymorphism	-
Q5T0T0	MARH8_HUMAN	92	P	S	Polymorphism	-
Q5T0U0	CC122_HUMAN	269	I	T	Polymorphism	-
Q5T0W9	FA83B_HUMAN	640	K	T	Polymorphism	-
Q5T0W9	FA83B_HUMAN	907	T	N	Polymorphism	-
Q5T0W9	FA83B_HUMAN	435	S	R	Polymorphism	-
Q5T0W9	FA83B_HUMAN	410	N	S	Polymorphism	-
Q5T0Z8	CF132_HUMAN	4	K	N	Polymorphism	-
Q5T124	UBX11_HUMAN	165	E	G	Polymorphism	-
Q5T124	UBX11_HUMAN	312	L	R	Polymorphism	-
Q5T124	UBX11_HUMAN	474	A	V	Polymorphism	-
Q5T124	UBX11_HUMAN	509	P	S	Polymorphism	-
Q5T160	SYRM_HUMAN	291	K	R	Polymorphism	-
Q5T160	SYRM_HUMAN	441	L	F	Unclassified	-
Q5T160	SYRM_HUMAN	367	D	G	Polymorphism	-
Q5T160	SYRM_HUMAN	331	I	V	Polymorphism	-
Q5T160	SYRM_HUMAN	436	D	Y	Unclassified	-
Q5T197	DCST1_HUMAN	512	M	L	Polymorphism	-
Q5T197	DCST1_HUMAN	158	T	I	Polymorphism	-
Q5T1B0	AXDN1_HUMAN	991	E	Q	Polymorphism	-
Q5T1B0	AXDN1_HUMAN	993	Q	E	Polymorphism	-
Q5T1B0	AXDN1_HUMAN	742	A	V	Polymorphism	-
Q5T1B0	AXDN1_HUMAN	522	I	L	Polymorphism	-
Q5T1B1	CJ091_HUMAN	144	E	G	Polymorphism	-
Q5T1C6	THEM4_HUMAN	38	S	C	Polymorphism	-
Q5T1C6	THEM4_HUMAN	17	L	R	Polymorphism	-
Q5T1H1	EYS_HUMAN	641	E	V	Polymorphism	-
Q5T1H1	EYS_HUMAN	112	V	I	Polymorphism	-
Q5T1H1	EYS_HUMAN	1747	E	G	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	2945	Q	E	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	1361	I	V	Polymorphism	-
Q5T1H1	EYS_HUMAN	1999	I	V	Polymorphism	-
Q5T1H1	EYS_HUMAN	834	V	I	Polymorphism	-
Q5T1H1	EYS_HUMAN	938	K	R	Polymorphism	-
Q5T1H1	EYS_HUMAN	120	T	M	Polymorphism	-
Q5T1H1	EYS_HUMAN	745	N	S	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	631	G	S	Polymorphism	-
Q5T1H1	EYS_HUMAN	1163	N	K	Polymorphism	-
Q5T1H1	EYS_HUMAN	1739	P	L	Polymorphism	-
Q5T1H1	EYS_HUMAN	1419	L	S	Polymorphism	-
Q5T1H1	EYS_HUMAN	1517	S	G	Polymorphism	-
Q5T1H1	EYS_HUMAN	1110	T	S	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	1232	I	F	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	1873	L	V	Polymorphism	-
Q5T1H1	EYS_HUMAN	1987	T	P	Polymorphism	-
Q5T1H1	EYS_HUMAN	1662	D	V	Polymorphism	-
Q5T1H1	EYS_HUMAN	135	T	L	Unclassified	-
Q5T1H1	EYS_HUMAN	2151	N	S	Polymorphism	-
Q5T1H1	EYS_HUMAN	2040	V	D	Polymorphism	-
Q5T1H1	EYS_HUMAN	2599	H	R	Polymorphism	-
Q5T1H1	EYS_HUMAN	1451	I	T	Polymorphism	-
Q5T1H1	EYS_HUMAN	1837	W	S	Polymorphism	-
Q5T1H1	EYS_HUMAN	618	G	S	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	1869	L	M	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	1176	C	R	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	1682	D	Y	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	2189	L	P	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	2556	S	C	Polymorphism	-
Q5T1H1	EYS_HUMAN	852	L	P	Polymorphism	-
Q5T1H1	EYS_HUMAN	136	V	F	Polymorphism	-
Q5T1H1	EYS_HUMAN	326	S	N	Polymorphism	-
Q5T1H1	EYS_HUMAN	1993	T	A	Polymorphism	-
Q5T1H1	EYS_HUMAN	1365	K	E	Polymorphism	-
Q5T1H1	EYS_HUMAN	1664	T	I	Polymorphism	-
Q5T1H1	EYS_HUMAN	532	K	N	Polymorphism	-
Q5T1H1	EYS_HUMAN	1515	R	W	Polymorphism	-
Q5T1H1	EYS_HUMAN	2911	C	Y	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	1915	S	G	Polymorphism	-
Q5T1H1	EYS_HUMAN	2757	A	P	Polymorphism	-
Q5T1H1	EYS_HUMAN	94	P	Q	Polymorphism	-
Q5T1H1	EYS_HUMAN	1902	N	I	Polymorphism	-
Q5T1H1	EYS_HUMAN	2139	C	Y	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	2326	R	Q	Polymorphism	-
Q5T1H1	EYS_HUMAN	2831	T	I	Polymorphism	-
Q5T1H1	EYS_HUMAN	571	Q	R	Polymorphism	-
Q5T1H1	EYS_HUMAN	2928	G	E	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	2017	G	V	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	2211	S	L	Unclassified	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	2503	E	K	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	1484	W	R	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	1263	I	V	Polymorphism	-
Q5T1H1	EYS_HUMAN	1748	L	F	Polymorphism	-
Q5T1H1	EYS_HUMAN	2829	A	T	Disease	Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1	EYS_HUMAN	1325	Q	E	Polymorphism	-
Q5T1H1	EYS_HUMAN	551	R	L	Polymorphism	-
Q5T1M5	FKB15_HUMAN	106	A	T	Polymorphism	-
Q5T1M5	FKB15_HUMAN	413	H	Q	Polymorphism	-
Q5T1M5	FKB15_HUMAN	434	L	F	Polymorphism	-
Q5T1M5	FKB15_HUMAN	847	A	S	Polymorphism	-
Q5T1M5	FKB15_HUMAN	993	P	T	Polymorphism	-
Q5T1N1	AKND1_HUMAN	616	N	K	Polymorphism	-
Q5T1N1	AKND1_HUMAN	352	L	V	Polymorphism	-
Q5T1N1	AKND1_HUMAN	104	A	V	Polymorphism	-
Q5T1N1	AKND1_HUMAN	582	G	V	Polymorphism	-
Q5T1N1	AKND1_HUMAN	167	E	G	Polymorphism	-
Q5T1N1	AKND1_HUMAN	654	C	Y	Polymorphism	-
Q5T1N1	AKND1_HUMAN	255	H	Y	Polymorphism	-
Q5T1N1	AKND1_HUMAN	61	S	N	Polymorphism	-
Q5T1R4	ZEP3_HUMAN	1087	Q	H	Polymorphism	-
Q5T1R4	ZEP3_HUMAN	484	V	M	Unclassified	A colorectal cancer sample
Q5T1R4	ZEP3_HUMAN	2272	G	R	Polymorphism	-
Q5T1R4	ZEP3_HUMAN	2339	T	A	Polymorphism	-
Q5T1R4	ZEP3_HUMAN	2109	D	A	Polymorphism	-
Q5T1R4	ZEP3_HUMAN	2023	A	P	Polymorphism	-
Q5T1R4	ZEP3_HUMAN	575	H	R	Polymorphism	-
Q5T1R4	ZEP3_HUMAN	35	V	I	Polymorphism	-
Q5T1V6	DDX59_HUMAN	367	V	G	Disease	Orofaciodigital syndrome 5 (OFD5) [MIM:174300]
Q5T1V6	DDX59_HUMAN	472	S	R	Polymorphism	-
Q5T1V6	DDX59_HUMAN	534	G	R	Disease	Orofaciodigital syndrome 5 (OFD5) [MIM:174300]
Q5T1V6	DDX59_HUMAN	77	P	T	Unclassified	A breast cancer sample
Q5T1V6	DDX59_HUMAN	107	I	V	Polymorphism	-
Q5T200	ZC3HD_HUMAN	1429	E	D	Polymorphism	-
Q5T230	UTF1_HUMAN	73	G	R	Polymorphism	-
Q5T280	CI114_HUMAN	130	T	R	Polymorphism	-
Q5T280	CI114_HUMAN	63	A	V	Polymorphism	-
Q5T280	CI114_HUMAN	369	I	T	Polymorphism	-
Q5T292	TM273_HUMAN	83	P	L	Polymorphism	-
Q5T2D2	TRML2_HUMAN	50	V	M	Polymorphism	-
Q5T2D2	TRML2_HUMAN	19	G	C	Polymorphism	-
Q5T2D2	TRML2_HUMAN	285	V	I	Polymorphism	-
Q5T2D2	TRML2_HUMAN	144	S	G	Polymorphism	-
Q5T2D3	OTUD3_HUMAN	333	A	T	Polymorphism	-
Q5T2D3	OTUD3_HUMAN	321	N	S	Polymorphism	-
Q5T2L2	AKCL1_HUMAN	50	R	H	Polymorphism	-
Q5T2Q4	CCYL2_HUMAN	57	V	E	Polymorphism	-
Q5T2Q4	CCYL2_HUMAN	176	R	Q	Polymorphism	-
Q5T2Q4	CCYL2_HUMAN	288	I	V	Polymorphism	-
Q5T2R2	DPS1_HUMAN	308	D	E	Disease	Coenzyme Q10 deficiency, primary, 2 (COQ10D2) [MIM:614651]
Q5T2S8	ARMC4_HUMAN	927	L	W	Disease	Ciliary dyskinesia, primary, 23 (CILD23) [MIM:615451]
Q5T2S8	ARMC4_HUMAN	1041	A	S	Polymorphism	-
Q5T2S8	ARMC4_HUMAN	935	N	K	Polymorphism	-
Q5T2S8	ARMC4_HUMAN	343	I	T	Polymorphism	-
Q5T2T1	MPP7_HUMAN	322	K	R	Polymorphism	-
Q5T3F8	CSCL2_HUMAN	307	V	M	Polymorphism	-
Q5T3J3	LRIF1_HUMAN	599	S	P	Polymorphism	-
Q5T3J3	LRIF1_HUMAN	438	A	T	Polymorphism	-
Q5T3J3	LRIF1_HUMAN	641	I	M	Polymorphism	-
Q5T3U5	MRP7_HUMAN	948	I	T	Polymorphism	-
Q5T440	CAF17_HUMAN	314	Q	P	Disease	Multiple mitochondrial dysfunctions syndrome 3 (MMDS3) [MIM:615330]
Q5T440	CAF17_HUMAN	211	G	S	Polymorphism	-
Q5T442	CXG2_HUMAN	149	G	S	Polymorphism	-
Q5T442	CXG2_HUMAN	36	I	M	Disease	Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206]
Q5T442	CXG2_HUMAN	272	Y	D	Disease	Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]
Q5T442	CXG2_HUMAN	90	P	S	Disease	Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]
Q5T442	CXG2_HUMAN	286	M	T	Disease	Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]
Q5T442	CXG2_HUMAN	48	S	L	Disease	Lymphatic malformation 3 (LMPHM3) [MIM:613480]
Q5T442	CXG2_HUMAN	125	R	Q	Unclassified	-
Q5T442	CXG2_HUMAN	19	H	P	Unclassified	-
Q5T442	CXG2_HUMAN	316	P	L	Polymorphism	-
Q5T442	CXG2_HUMAN	260	R	C	Disease	Lymphatic malformation 3 (LMPHM3) [MIM:613480]
Q5T481	RBM20_HUMAN	768	W	S	Polymorphism	-
Q5T481	RBM20_HUMAN	636	R	H	Disease	Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]
Q5T481	RBM20_HUMAN	173	P	T	Polymorphism	-
Q5T481	RBM20_HUMAN	535	V	I	Disease	Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]
Q5T481	RBM20_HUMAN	634	R	W	Disease	Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]
Q5T481	RBM20_HUMAN	637	S	G	Disease	Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]
Q5T481	RBM20_HUMAN	635	S	A	Disease	Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]
Q5T481	RBM20_HUMAN	636	R	S	Disease	Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]
Q5T481	RBM20_HUMAN	638	P	L	Disease	Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]
Q5T481	RBM20_HUMAN	634	R	Q	Disease	Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]
Q5T481	RBM20_HUMAN	716	R	Q	Disease	Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]
Q5T481	RBM20_HUMAN	636	R	C	Disease	Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]
Q5T4D3	TMTC4_HUMAN	655	M	V	Unclassified	A breast cancer sample
Q5T4D3	TMTC4_HUMAN	286	V	M	Polymorphism	-
Q5T4D3	TMTC4_HUMAN	419	V	I	Polymorphism	-
Q5T4F4	ZFY27_HUMAN	82	V	I	Polymorphism	-
Q5T4F4	ZFY27_HUMAN	138	G	V	Polymorphism	-
Q5T4F4	ZFY27_HUMAN	191	G	V	Disease	Spastic paraplegia 33, autosomal dominant (SPG33) [MIM:610244]
Q5T4F7	SFRP5_HUMAN	7	G	A	Polymorphism	-
Q5T4H9	CSC10_HUMAN	73	R	P	Polymorphism	-
Q5T4I8	CF052_HUMAN	13	A	D	Polymorphism	-
Q5T4S7	UBR4_HUMAN	5084	V	M	Polymorphism	-
Q5T4S7	UBR4_HUMAN	4924	G	R	Unclassified	A melanoma patient
Q5T4S7	UBR4_HUMAN	1107	T	A	Polymorphism	-
Q5T4S7	UBR4_HUMAN	1394	R	H	Unclassified	A breast cancer sample
Q5T4S7	UBR4_HUMAN	4867	M	L	Polymorphism	-
Q5T4T6	SYC2L_HUMAN	647	N	D	Polymorphism	-
Q5T4T6	SYC2L_HUMAN	672	P	S	Polymorphism	-
Q5T4T6	SYC2L_HUMAN	291	R	W	Polymorphism	-
Q5T4T6	SYC2L_HUMAN	94	V	I	Polymorphism	-
Q5T4W7	ARTN_HUMAN	19	Q	R	Polymorphism	-
Q5T5C0	STXB5_HUMAN	436	N	S	Polymorphism	-
Q5T5J6	SWT1_HUMAN	821	N	D	Polymorphism	-
Q5T5J6	SWT1_HUMAN	638	L	F	Polymorphism	-
Q5T5J6	SWT1_HUMAN	536	H	R	Polymorphism	-
Q5T5J6	SWT1_HUMAN	148	I	V	Polymorphism	-
Q5T5N4	CF118_HUMAN	363	V	L	Polymorphism	-
Q5T5N4	CF118_HUMAN	301	T	M	Polymorphism	-
Q5T5N4	CF118_HUMAN	271	G	E	Polymorphism	-
Q5T5N4	CF118_HUMAN	166	R	L	Polymorphism	-
Q5T5N4	CF118_HUMAN	385	R	Q	Polymorphism	-
Q5T5N4	CF118_HUMAN	256	I	M	Polymorphism	-
Q5T5P2	SKT_HUMAN	887	A	T	Polymorphism	-
Q5T5P2	SKT_HUMAN	1362	P	A	Polymorphism	-
Q5T5P2	SKT_HUMAN	145	A	G	Polymorphism	-
Q5T5S1	CC183_HUMAN	38	M	T	Polymorphism	-
Q5T5S1	CC183_HUMAN	129	D	A	Polymorphism	-
Q5T5S1	CC183_HUMAN	113	L	R	Polymorphism	-
Q5T5S1	CC183_HUMAN	342	W	R	Polymorphism	-
Q5T5S1	CC183_HUMAN	421	N	T	Polymorphism	-
Q5T5U3	RHG21_HUMAN	713	N	S	Polymorphism	-
Q5T5U3	RHG21_HUMAN	1594	T	A	Polymorphism	-
Q5T5U3	RHG21_HUMAN	1950	S	N	Polymorphism	-
Q5T5U3	RHG21_HUMAN	1611	V	A	Polymorphism	-
Q5T5U3	RHG21_HUMAN	1629	E	K	Polymorphism	-
Q5T5U3	RHG21_HUMAN	1727	A	T	Polymorphism	-
Q5T5Y3	CAMP1_HUMAN	476	A	V	Polymorphism	-
Q5T601	AGRF1_HUMAN	787	I	V	Polymorphism	-
Q5T619	ZN648_HUMAN	111	N	K	Polymorphism	-
Q5T619	ZN648_HUMAN	42	E	K	Polymorphism	-
Q5T653	RM02_HUMAN	300	S	F	Polymorphism	-
Q5T655	CFA58_HUMAN	804	Q	H	Polymorphism	-
Q5T655	CFA58_HUMAN	496	S	T	Polymorphism	-
Q5T681	CJ062_HUMAN	121	E	D	Polymorphism	-
Q5T686	AVPI1_HUMAN	41	A	G	Polymorphism	-
Q5T6C5	AT7L2_HUMAN	495	P	S	Polymorphism	-
Q5T6F0	DCA12_HUMAN	131	R	Q	Polymorphism	-
Q5T6F2	UBAP2_HUMAN	429	P	L	Polymorphism	-
Q5T6F2	UBAP2_HUMAN	756	A	V	Polymorphism	-
Q5T6F2	UBAP2_HUMAN	14	R	Q	Polymorphism	-
Q5T6F2	UBAP2_HUMAN	762	M	I	Polymorphism	-
Q5T6F2	UBAP2_HUMAN	606	N	S	Polymorphism	-
Q5T6J7	GNTK_HUMAN	185	K	T	Polymorphism	-
Q5T6L9	EMARD_HUMAN	540	S	G	Polymorphism	-
Q5T6L9	EMARD_HUMAN	377	I	N	Disease	Periventricular nodular heterotopia 6 (PVNH6) [MIM:615544]
Q5T6X4	F162B_HUMAN	71	Q	H	Polymorphism	-
Q5T6X5	GPC6A_HUMAN	144	I	R	Polymorphism	-
Q5T6X5	GPC6A_HUMAN	91	P	S	Polymorphism	-
Q5T6X5	GPC6A_HUMAN	599	I	T	Polymorphism	-
Q5T742	CJ025_HUMAN	61	P	L	Polymorphism	-
Q5T742	CJ025_HUMAN	63	I	N	Polymorphism	-
Q5T749	KPRP_HUMAN	113	C	R	Polymorphism	-
Q5T749	KPRP_HUMAN	168	R	H	Polymorphism	-
Q5T749	KPRP_HUMAN	532	P	T	Polymorphism	-
Q5T749	KPRP_HUMAN	413	C	S	Polymorphism	-
Q5T749	KPRP_HUMAN	14	Q	H	Polymorphism	-
Q5T749	KPRP_HUMAN	37	V	A	Polymorphism	-
Q5T750	XP32_HUMAN	26	S	T	Polymorphism	-
Q5T750	XP32_HUMAN	159	T	P	Polymorphism	-
Q5T750	XP32_HUMAN	173	L	V	Polymorphism	-
Q5T751	LCE1C_HUMAN	16	C	Y	Polymorphism	-
Q5T752	LCE1D_HUMAN	59	N	S	Polymorphism	-
Q5T752	LCE1D_HUMAN	78	R	H	Polymorphism	-
Q5T753	LCE1E_HUMAN	111	G	S	Polymorphism	-
Q5T753	LCE1E_HUMAN	59	S	G	Polymorphism	-
Q5T764	IFT1B_HUMAN	188	L	P	Polymorphism	-
Q5T7B8	KIF24_HUMAN	109	R	G	Polymorphism	-
Q5T7B8	KIF24_HUMAN	218	W	L	Polymorphism	-
Q5T7B8	KIF24_HUMAN	837	S	F	Polymorphism	-
Q5T7B8	KIF24_HUMAN	50	D	E	Polymorphism	-
Q5T7B8	KIF24_HUMAN	1077	T	K	Polymorphism	-
Q5T7B8	KIF24_HUMAN	140	M	V	Polymorphism	-
Q5T7M4	ADIPL_HUMAN	14	G	R	Polymorphism	-
Q5T7N2	LITD1_HUMAN	549	P	T	Polymorphism	-
Q5T7N2	LITD1_HUMAN	27	R	S	Polymorphism	-
Q5T7N2	LITD1_HUMAN	329	K	N	Polymorphism	-
Q5T7N2	LITD1_HUMAN	246	V	A	Polymorphism	-
Q5T7N2	LITD1_HUMAN	309	V	M	Polymorphism	-
Q5T7N2	LITD1_HUMAN	613	T	I	Polymorphism	-
Q5T7N2	LITD1_HUMAN	860	L	V	Polymorphism	-
Q5T7N3	KANK4_HUMAN	801	Y	H	Unclassified	-
Q5T7N3	KANK4_HUMAN	701	G	S	Polymorphism	-
Q5T7N3	KANK4_HUMAN	987	A	V	Polymorphism	-
Q5T7N3	KANK4_HUMAN	935	V	L	Polymorphism	-
Q5T7N3	KANK4_HUMAN	768	T	A	Polymorphism	-
Q5T7N3	KANK4_HUMAN	822	H	R	Polymorphism	-
Q5T7N3	KANK4_HUMAN	840	V	A	Polymorphism	-
Q5T7V8	GORAB_HUMAN	320	E	K	Polymorphism	-
Q5T7W7	TSTD2_HUMAN	83	R	Q	Polymorphism	-
Q5T7W7	TSTD2_HUMAN	109	A	D	Polymorphism	-
Q5T848	GP158_HUMAN	1209	I	V	Polymorphism	-
Q5T848	GP158_HUMAN	425	A	G	Polymorphism	-
Q5T890	ER6L2_HUMAN	592	V	A	Polymorphism	-
Q5T8A7	PPR26_HUMAN	520	R	H	Polymorphism	-
Q5T8A7	PPR26_HUMAN	576	G	S	Polymorphism	-
Q5T8A7	PPR26_HUMAN	206	K	E	Polymorphism	-
Q5T8A7	PPR26_HUMAN	434	M	T	Polymorphism	-
Q5T8A7	PPR26_HUMAN	346	R	K	Polymorphism	-
Q5T8A7	PPR26_HUMAN	834	N	D	Polymorphism	-
Q5T8A7	PPR26_HUMAN	98	V	A	Polymorphism	-
Q5T8D3	ACBD5_HUMAN	472	T	M	Polymorphism	-
Q5T8I9	HENMT_HUMAN	361	M	I	Polymorphism	-
Q5T8I9	HENMT_HUMAN	230	R	Q	Polymorphism	-
Q5T8I9	HENMT_HUMAN	129	T	A	Polymorphism	-
Q5T8P6	RBM26_HUMAN	718	V	D	Polymorphism	-
Q5T8R8	CI066_HUMAN	231	R	G	Polymorphism	-
Q5T8R8	CI066_HUMAN	43	L	R	Polymorphism	-
Q5T8R8	CI066_HUMAN	178	R	Q	Polymorphism	-
Q5T953	IER5L_HUMAN	105	P	S	Polymorphism	-
Q5T9A4	ATD3B_HUMAN	7	V	I	Polymorphism	-
Q5T9L3	WLS_HUMAN	465	V	I	Polymorphism	-
Q5T9Z0	TEDM1_HUMAN	130	Y	H	Polymorphism	-
Q5TA76	LCE3A_HUMAN	59	R	C	Polymorphism	-
Q5TA78	LCE4A_HUMAN	95	G	V	Polymorphism	-
Q5TA79	LCE2A_HUMAN	20	C	Y	Polymorphism	-
Q5TA82	LCE2D_HUMAN	92	C	Y	Polymorphism	-
Q5TAA0	TTC22_HUMAN	14	L	V	Polymorphism	-
Q5TAH2	SL9C2_HUMAN	934	R	S	Polymorphism	-
Q5TAH2	SL9C2_HUMAN	505	A	G	Polymorphism	-
Q5TAH2	SL9C2_HUMAN	481	T	M	Polymorphism	-
Q5TAP6	UT14C_HUMAN	85	G	V	Polymorphism	-
Q5TAP6	UT14C_HUMAN	101	T	A	Polymorphism	-
Q5TAP6	UT14C_HUMAN	319	R	H	Polymorphism	-
Q5TAQ9	DCAF8_HUMAN	317	R	C	Disease	Giant axonal neuropathy 2, autosomal dominant (GAN2) [MIM:610100]
Q5TAT6	CODA1_HUMAN	531	H	Q	Polymorphism	-
Q5TAX3	TUT4_HUMAN	796	D	Y	Polymorphism	-
Q5TB30	DEP1A_HUMAN	404	I	R	Polymorphism	-
Q5TB80	CE162_HUMAN	342	S	C	Polymorphism	-
Q5TB80	CE162_HUMAN	272	E	Q	Polymorphism	-
Q5TB80	CE162_HUMAN	348	E	Q	Polymorphism	-
Q5TB80	CE162_HUMAN	266	C	S	Polymorphism	-
Q5TBA9	FRY_HUMAN	1968	G	S	Polymorphism	-
Q5TBB1	RNH2B_HUMAN	219	Y	H	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	83	G	S	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	43	P	H	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	177	A	T	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	60	L	R	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	138	L	F	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	159	S	I	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	86	H	R	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	183	V	M	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	185	V	G	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	163	T	I	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	73	W	L	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	162	K	T	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBB1	RNH2B_HUMAN	229	S	P	Disease	Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]
Q5TBC7	B2L15_HUMAN	90	D	N	Polymorphism	-
Q5TC12	ATPF1_HUMAN	62	S	G	Polymorphism	-
Q5TC84	OGRL1_HUMAN	47	S	P	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	121	K	R	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	231	C	R	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	230	C	S	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	11	R	C	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	226	S	N	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	185	V	F	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	126	R	W	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	491	M	I	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	509	L	F	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	130	G	S	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	428	L	P	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	152	N	Y	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	276	K	T	Polymorphism	-
Q5TCH4	CP4AM_HUMAN	104	Y	F	Polymorphism	-
Q5TCM9	LCE5A_HUMAN	40	C	Y	Polymorphism	-
Q5TCX8	M3K21_HUMAN	741	E	D	Polymorphism	-
Q5TCX8	M3K21_HUMAN	900	T	I	Polymorphism	-
Q5TCX8	M3K21_HUMAN	784	C	G	Polymorphism	-
Q5TCX8	M3K21_HUMAN	597	S	F	Polymorphism	-
Q5TCX8	M3K21_HUMAN	982	P	L	Polymorphism	-
Q5TCX8	M3K21_HUMAN	892	R	W	Polymorphism	-
Q5TCX8	M3K21_HUMAN	420	D	N	Polymorphism	-
Q5TCX8	M3K21_HUMAN	977	R	C	Polymorphism	-
Q5TCX8	M3K21_HUMAN	563	E	D	Polymorphism	-
Q5TCX8	M3K21_HUMAN	728	V	I	Polymorphism	-
Q5TCY1	TTBK1_HUMAN	855	P	S	Unclassified	A metastatic melanoma sample
Q5TCY1	TTBK1_HUMAN	741	D	E	Polymorphism	-
Q5TCY1	TTBK1_HUMAN	1145	K	R	Polymorphism	-
Q5TCY1	TTBK1_HUMAN	1184	L	S	Polymorphism	-
Q5TCY1	TTBK1_HUMAN	806	S	F	Unclassified	A lung large cell carcinoma sample
Q5TCY1	TTBK1_HUMAN	649	P	R	Polymorphism	-
Q5TCY1	TTBK1_HUMAN	623	G	A	Polymorphism	-
Q5TCY1	TTBK1_HUMAN	744	E	D	Polymorphism	-
Q5TCY1	TTBK1_HUMAN	613	P	L	Polymorphism	-
Q5TCZ1	SPD2A_HUMAN	659	K	Q	Polymorphism	-
Q5TCZ1	SPD2A_HUMAN	1035	R	Q	Polymorphism	-
Q5TCZ1	SPD2A_HUMAN	1073	L	P	Polymorphism	-
Q5TD94	RSH4A_HUMAN	149	T	S	Polymorphism	-
Q5TD94	RSH4A_HUMAN	589	L	P	Polymorphism	-
Q5TD94	RSH4A_HUMAN	464	G	E	Unclassified	Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649]
Q5TD94	RSH4A_HUMAN	627	N	H	Polymorphism	-
Q5TD94	RSH4A_HUMAN	87	P	S	Disease	Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649]
Q5TD94	RSH4A_HUMAN	700	A	V	Polymorphism	-
Q5TD94	RSH4A_HUMAN	556	R	H	Polymorphism	-
Q5TD97	FHL5_HUMAN	204	R	G	Polymorphism	-
Q5TD97	FHL5_HUMAN	35	R	H	Polymorphism	-
Q5TD97	FHL5_HUMAN	243	S	R	Polymorphism	-
Q5TD97	FHL5_HUMAN	211	V	M	Polymorphism	-
Q5TDP6	LGSN_HUMAN	137	N	H	Polymorphism	-
Q5TDP6	LGSN_HUMAN	46	G	E	Polymorphism	-
Q5TDP6	LGSN_HUMAN	26	N	Y	Polymorphism	-
Q5TEA3	CT194_HUMAN	577	R	G	Polymorphism	-
Q5TEA3	CT194_HUMAN	265	F	L	Polymorphism	-
Q5TEA3	CT194_HUMAN	481	T	P	Polymorphism	-
Q5TEA3	CT194_HUMAN	86	T	M	Polymorphism	-
Q5TEA6	SE1L2_HUMAN	477	G	S	Polymorphism	-
Q5TEA6	SE1L2_HUMAN	687	H	Q	Polymorphism	-
Q5TEC3	ZN697_HUMAN	158	P	T	Polymorphism	-
Q5TEJ8	THMS2_HUMAN	431	V	L	Polymorphism	-
Q5TEJ8	THMS2_HUMAN	511	K	E	Polymorphism	-
Q5TEU4	NDUF5_HUMAN	337	L	F	Polymorphism	-
Q5TEU4	NDUF5_HUMAN	229	L	P	Disease	Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16) [MIM:618238]
Q5TEU4	NDUF5_HUMAN	159	L	F	Disease	Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16) [MIM:618238]
Q5TEU4	NDUF5_HUMAN	250	G	V	Disease	Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16) [MIM:618238]
Q5TF39	MFS4B_HUMAN	93	S	P	Polymorphism	-
Q5TFG8	ZC21B_HUMAN	6	P	S	Polymorphism	-
Q5TFQ8	SIRBL_HUMAN	23	R	G	Polymorphism	-
Q5TFQ8	SIRBL_HUMAN	51	T	I	Polymorphism	-
Q5TG30	RHG40_HUMAN	463	H	N	Polymorphism	-
Q5TG30	RHG40_HUMAN	133	G	R	Polymorphism	-
Q5TG30	RHG40_HUMAN	413	R	L	Polymorphism	-
Q5TG53	SEAS1_HUMAN	91	R	Q	Polymorphism	-
Q5TGJ6	HDGL1_HUMAN	87	T	M	Polymorphism	-
Q5TGL8	PXDC1_HUMAN	184	Q	H	Polymorphism	-
Q5TGL8	PXDC1_HUMAN	203	E	Q	Unclassified	A breast cancer sample
Q5TGL8	PXDC1_HUMAN	189	P	Q	Polymorphism	-
Q5TGP6	MROH9_HUMAN	29	N	S	Polymorphism	-
Q5TGP6	MROH9_HUMAN	160	Y	H	Polymorphism	-
Q5TGP6	MROH9_HUMAN	74	V	A	Polymorphism	-
Q5TGY1	TMCO4_HUMAN	478	R	H	Polymorphism	-
Q5TGY1	TMCO4_HUMAN	72	Q	K	Polymorphism	-
Q5TGY3	AHDC1_HUMAN	935	A	T	Polymorphism	-
Q5TH69	BIG3_HUMAN	413	E	D	Polymorphism	-
Q5TH69	BIG3_HUMAN	1571	A	T	Polymorphism	-
Q5TH69	BIG3_HUMAN	689	S	A	Polymorphism	-
Q5TH69	BIG3_HUMAN	2031	K	R	Polymorphism	-
Q5TH74	STPG1_HUMAN	254	S	F	Unclassified	A breast cancer sample
Q5THJ4	VP13D_HUMAN	3521	N	S	Disease	Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
Q5THJ4	VP13D_HUMAN	1307	M	L	Unclassified	Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
Q5THJ4	VP13D_HUMAN	1190	G	D	Disease	Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
Q5THJ4	VP13D_HUMAN	3253	R	Q	Disease	Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
Q5THJ4	VP13D_HUMAN	4228	R	Q	Disease	Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
Q5THJ4	VP13D_HUMAN	2900	L	S	Disease	Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
Q5THJ4	VP13D_HUMAN	4149	G	S	Unclassified	Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
Q5THJ4	VP13D_HUMAN	1200	G	D	Disease	Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
Q5THJ4	VP13D_HUMAN	225	A	T	Polymorphism	-
Q5THJ4	VP13D_HUMAN	865	T	A	Disease	Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
Q5THJ4	VP13D_HUMAN	1707	S	F	Polymorphism	-
Q5THJ4	VP13D_HUMAN	1624	I	T	Polymorphism	-
Q5THJ4	VP13D_HUMAN	4210	A	V	Disease	Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
Q5THJ4	VP13D_HUMAN	4107	N	I	Unclassified	Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
Q5THJ4	VP13D_HUMAN	1505	E	V	Polymorphism	-
Q5THJ4	VP13D_HUMAN	1341	S	L	Polymorphism	-
Q5THK1	PR14L_HUMAN	961	T	I	Polymorphism	-
Q5THK1	PR14L_HUMAN	963	D	N	Polymorphism	-
Q5THK1	PR14L_HUMAN	1784	V	I	Polymorphism	-
Q5THK1	PR14L_HUMAN	876	M	I	Polymorphism	-
Q5THK1	PR14L_HUMAN	740	L	P	Polymorphism	-
Q5THK1	PR14L_HUMAN	455	N	S	Polymorphism	-
Q5THK1	PR14L_HUMAN	1316	E	K	Polymorphism	-
Q5THK1	PR14L_HUMAN	1151	S	P	Polymorphism	-
Q5THK1	PR14L_HUMAN	1395	L	F	Polymorphism	-
Q5THK1	PR14L_HUMAN	1221	S	L	Polymorphism	-
Q5THR3	EFCB6_HUMAN	384	S	A	Polymorphism	-
Q5THR3	EFCB6_HUMAN	680	T	A	Polymorphism	-
Q5THR3	EFCB6_HUMAN	1059	A	V	Polymorphism	-
Q5THR3	EFCB6_HUMAN	400	H	Y	Polymorphism	-
Q5THR3	EFCB6_HUMAN	166	V	A	Polymorphism	-
Q5THR3	EFCB6_HUMAN	780	D	N	Polymorphism	-
Q5THR3	EFCB6_HUMAN	199	R	G	Polymorphism	-
Q5THR3	EFCB6_HUMAN	800	R	W	Polymorphism	-
Q5THR3	EFCB6_HUMAN	351	T	A	Polymorphism	-
Q5TI25	NBPFE_HUMAN	243	S	G	Polymorphism	-
Q5TIA1	MEI1_HUMAN	853	S	T	Polymorphism	-
Q5TIA1	MEI1_HUMAN	408	T	R	Unclassified	-
Q5TIA1	MEI1_HUMAN	657	E	Q	Polymorphism	-
Q5TIA1	MEI1_HUMAN	1049	K	E	Polymorphism	-
Q5TID7	CC181_HUMAN	323	S	C	Polymorphism	-
Q5TID7	CC181_HUMAN	172	F	S	Polymorphism	-
Q5TID7	CC181_HUMAN	238	F	I	Polymorphism	-
Q5TIE3	VW5B1_HUMAN	319	A	S	Polymorphism	-
Q5TIE3	VW5B1_HUMAN	634	K	R	Polymorphism	-
Q5TIE3	VW5B1_HUMAN	506	S	N	Polymorphism	-
Q5TIE3	VW5B1_HUMAN	469	N	S	Polymorphism	-
Q5TYW1	ZN658_HUMAN	68	S	Y	Polymorphism	-
Q5TZ20	OR2G6_HUMAN	258	M	L	Polymorphism	-
Q5TZ20	OR2G6_HUMAN	59	M	V	Polymorphism	-
Q5TZA2	CROCC_HUMAN	1097	R	P	Polymorphism	-
Q5TZA2	CROCC_HUMAN	372	R	Q	Polymorphism	-
Q5TZA2	CROCC_HUMAN	7	R	G	Polymorphism	-
Q5TZA2	CROCC_HUMAN	439	A	V	Polymorphism	-
Q5TZA2	CROCC_HUMAN	586	D	H	Polymorphism	-
Q5U3C3	TM164_HUMAN	276	Y	H	Unclassified	A colorectal cancer sample
Q5U3C3	TM164_HUMAN	204	S	N	Polymorphism	-
Q5U5Q3	MEX3C_HUMAN	412	T	P	Polymorphism	-
Q5U5R9	HECD2_HUMAN	19	P	A	Polymorphism	-
Q5U5X0	LYRM7_HUMAN	25	D	N	Disease	Mitochondrial complex III deficiency, nuclear 8 (MC3DN8) [MIM:615838]
Q5U5Z8	CBPC2_HUMAN	671	M	I	Polymorphism	-
Q5U5Z8	CBPC2_HUMAN	368	D	G	Polymorphism	-
Q5U5Z8	CBPC2_HUMAN	90	I	R	Polymorphism	-
Q5U5Z8	CBPC2_HUMAN	333	T	P	Polymorphism	-
Q5U5Z8	CBPC2_HUMAN	349	R	H	Polymorphism	-
Q5U623	MCAF2_HUMAN	527	S	L	Polymorphism	-
Q5U623	MCAF2_HUMAN	543	A	T	Polymorphism	-
Q5U623	MCAF2_HUMAN	537	T	I	Polymorphism	-
Q5U649	CL060_HUMAN	103	N	K	Polymorphism	-
Q5U649	CL060_HUMAN	51	K	R	Polymorphism	-
Q5U649	CL060_HUMAN	65	K	R	Polymorphism	-
Q5U651	RAIN_HUMAN	601	R	C	Polymorphism	-
Q5UIP0	RIF1_HUMAN	1784	E	K	Unclassified	A breast cancer sample
Q5UIP0	RIF1_HUMAN	1686	R	G	Polymorphism	-
Q5UIP0	RIF1_HUMAN	1362	V	M	Polymorphism	-
Q5UIP0	RIF1_HUMAN	1955	D	H	Unclassified	A breast cancer sample
Q5UIP0	RIF1_HUMAN	2418	L	V	Polymorphism	-
Q5UIP0	RIF1_HUMAN	2165	M	R	Polymorphism	-
Q5UIP0	RIF1_HUMAN	2021	N	Y	Polymorphism	-
Q5UIP0	RIF1_HUMAN	1862	V	I	Polymorphism	-
Q5UIP0	RIF1_HUMAN	836	G	S	Polymorphism	-
Q5VIR6	VPS53_HUMAN	375	L	R	Polymorphism	-
Q5VIR6	VPS53_HUMAN	328	L	I	Polymorphism	-
Q5VIR6	VPS53_HUMAN	695	Q	R	Disease	Pontocerebellar hypoplasia 2E (PCH2E) [MIM:615851]
Q5VIY5	ZN468_HUMAN	477	G	R	Polymorphism	-
Q5VIY5	ZN468_HUMAN	374	H	R	Polymorphism	-
Q5VSL9	STRP1_HUMAN	628	K	N	Polymorphism	-
Q5VST6	AB17B_HUMAN	154	R	K	Polymorphism	-
Q5VST6	AB17B_HUMAN	169	Q	K	Polymorphism	-
Q5VST9	OBSCN_HUMAN	2529	R	Q	Polymorphism	-
Q5VST9	OBSCN_HUMAN	2090	E	K	Unclassified	A colorectal cancer sample
Q5VST9	OBSCN_HUMAN	4039	G	R	Polymorphism	-
Q5VST9	OBSCN_HUMAN	6473	E	Q	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1792	R	H	Unclassified	A colorectal cancer sample
Q5VST9	OBSCN_HUMAN	4823	A	S	Polymorphism	-
Q5VST9	OBSCN_HUMAN	2720	V	M	Polymorphism	-
Q5VST9	OBSCN_HUMAN	3300	A	T	Polymorphism	-
Q5VST9	OBSCN_HUMAN	2812	R	W	Polymorphism	-
Q5VST9	OBSCN_HUMAN	5071	A	T	Unclassified	A breast cancer sample
Q5VST9	OBSCN_HUMAN	804	G	S	Polymorphism	-
Q5VST9	OBSCN_HUMAN	51	A	T	Polymorphism	-
Q5VST9	OBSCN_HUMAN	2116	F	L	Polymorphism	-
Q5VST9	OBSCN_HUMAN	4381	H	R	Polymorphism	-
Q5VST9	OBSCN_HUMAN	4450	C	R	Polymorphism	-
Q5VST9	OBSCN_HUMAN	4642	S	C	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1086	A	S	Polymorphism	-
Q5VST9	OBSCN_HUMAN	502	Q	R	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1601	A	T	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1027	K	R	Polymorphism	-
Q5VST9	OBSCN_HUMAN	4962	D	G	Polymorphism	-
Q5VST9	OBSCN_HUMAN	3983	R	Q	Unclassified	A colorectal cancer sample
Q5VST9	OBSCN_HUMAN	1133	L	V	Polymorphism	-
Q5VST9	OBSCN_HUMAN	3426	D	E	Polymorphism	-
Q5VST9	OBSCN_HUMAN	4558	R	H	Unclassified	A colorectal cancer sample
Q5VST9	OBSCN_HUMAN	4534	R	H	Polymorphism	-
Q5VST9	OBSCN_HUMAN	908	A	T	Polymorphism	-
Q5VST9	OBSCN_HUMAN	3372	E	D	Polymorphism	-
Q5VST9	OBSCN_HUMAN	5575	R	H	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1091	S	T	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1090	A	T	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1532	A	V	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1566	T	M	Polymorphism	-
Q5VST9	OBSCN_HUMAN	2314	S	F	Unclassified	A breast cancer sample
Q5VST9	OBSCN_HUMAN	4666	G	S	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1156	H	Q	Polymorphism	-
Q5VST9	OBSCN_HUMAN	3373	S	C	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1508	V	D	Polymorphism	-
Q5VST9	OBSCN_HUMAN	4516	R	W	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1930	V	M	Unclassified	A colorectal cancer sample
Q5VST9	OBSCN_HUMAN	1248	Q	H	Polymorphism	-
Q5VST9	OBSCN_HUMAN	4810	R	Q	Unclassified	A breast cancer sample
Q5VST9	OBSCN_HUMAN	1101	A	P	Polymorphism	-
Q5VST9	OBSCN_HUMAN	7172	A	V	Polymorphism	-
Q5VST9	OBSCN_HUMAN	3389	A	V	Polymorphism	-
Q5VST9	OBSCN_HUMAN	2106	D	E	Polymorphism	-
Q5VST9	OBSCN_HUMAN	1136	A	V	Unclassified	A colorectal cancer sample
Q5VST9	OBSCN_HUMAN	1121	G	R	Polymorphism	-
Q5VST9	OBSCN_HUMAN	5269	L	V	Polymorphism	-
Q5VST9	OBSCN_HUMAN	5891	Q	E	Polymorphism	-
Q5VST9	OBSCN_HUMAN	4662	R	C	Polymorphism	-
Q5VST9	OBSCN_HUMAN	4492	L	R	Polymorphism	-
Q5VST9	OBSCN_HUMAN	5598	R	Q	Polymorphism	-
Q5VST9	OBSCN_HUMAN	3834	R	G	Polymorphism	-
Q5VT06	CE350_HUMAN	1517	S	A	Polymorphism	-
Q5VT06	CE350_HUMAN	2044	T	P	Polymorphism	-
Q5VT06	CE350_HUMAN	1445	T	A	Polymorphism	-
Q5VT06	CE350_HUMAN	1446	T	A	Polymorphism	-
Q5VT06	CE350_HUMAN	945	E	Q	Polymorphism	-
Q5VT06	CE350_HUMAN	892	R	T	Polymorphism	-
Q5VT06	CE350_HUMAN	1213	G	V	Polymorphism	-
Q5VT25	MRCKA_HUMAN	1699	A	V	Polymorphism	-
Q5VT25	MRCKA_HUMAN	1618	T	A	Polymorphism	-
Q5VT25	MRCKA_HUMAN	537	I	T	Polymorphism	-
Q5VT25	MRCKA_HUMAN	50	E	K	Unclassified	A lung neuroendocrine carcinoma sample
Q5VT25	MRCKA_HUMAN	1418	I	K	Polymorphism	-
Q5VT25	MRCKA_HUMAN	1211	R	H	Polymorphism	-
Q5VT25	MRCKA_HUMAN	780	T	M	Polymorphism	-
Q5VT25	MRCKA_HUMAN	1317	V	I	Polymorphism	-
Q5VT25	MRCKA_HUMAN	231	T	M	Polymorphism	-
Q5VT25	MRCKA_HUMAN	790	Y	C	Polymorphism	-
Q5VT25	MRCKA_HUMAN	1148	A	T	Polymorphism	-
Q5VT25	MRCKA_HUMAN	1712	A	V	Polymorphism	-
Q5VT25	MRCKA_HUMAN	1469	A	V	Polymorphism	-
Q5VT52	RPRD2_HUMAN	351	M	V	Polymorphism	-
Q5VT66	MARC1_HUMAN	246	C	S	Polymorphism	-
Q5VT66	MARC1_HUMAN	15	L	H	Polymorphism	-
Q5VT66	MARC1_HUMAN	187	M	K	Polymorphism	-
Q5VT66	MARC1_HUMAN	165	T	A	Polymorphism	-
Q5VT66	MARC1_HUMAN	247	D	H	Polymorphism	-
Q5VT66	MARC1_HUMAN	268	M	I	Polymorphism	-
Q5VT66	MARC1_HUMAN	96	V	L	Polymorphism	-
Q5VT79	AXA81_HUMAN	134	A	V	Polymorphism	-
Q5VT79	AXA81_HUMAN	177	A	G	Polymorphism	-
Q5VT79	AXA81_HUMAN	192	K	N	Polymorphism	-
Q5VT97	SYDE2_HUMAN	1157	V	I	Polymorphism	-
Q5VT97	SYDE2_HUMAN	484	I	M	Polymorphism	-
Q5VT97	SYDE2_HUMAN	569	V	I	Polymorphism	-
Q5VT99	LRC38_HUMAN	292	K	E	Polymorphism	-
Q5VT99	LRC38_HUMAN	276	L	F	Polymorphism	-
Q5VTD9	GFI1B_HUMAN	231	R	H	Unclassified	A colorectal cancer sample
Q5VTE6	ANGE2_HUMAN	97	P	S	Polymorphism	-
Q5VTH9	WDR78_HUMAN	16	G	A	Polymorphism	-
Q5VTH9	WDR78_HUMAN	33	C	W	Polymorphism	-
Q5VTH9	WDR78_HUMAN	832	R	Q	Polymorphism	-
Q5VTJ3	KLD7A_HUMAN	194	R	P	Polymorphism	-
Q5VTJ3	KLD7A_HUMAN	273	H	N	Polymorphism	-
Q5VTJ3	KLD7A_HUMAN	147	T	P	Polymorphism	-
Q5VTJ3	KLD7A_HUMAN	351	T	P	Polymorphism	-
Q5VTJ3	KLD7A_HUMAN	21	V	L	Polymorphism	-
Q5VTJ3	KLD7A_HUMAN	160	R	S	Polymorphism	-
Q5VTJ3	KLD7A_HUMAN	94	G	S	Polymorphism	-
Q5VTJ3	KLD7A_HUMAN	141	P	R	Polymorphism	-
Q5VTL7	FNDC7_HUMAN	353	V	A	Polymorphism	-
Q5VTL7	FNDC7_HUMAN	367	N	S	Polymorphism	-
Q5VTL7	FNDC7_HUMAN	685	P	L	Polymorphism	-
Q5VTL7	FNDC7_HUMAN	309	S	N	Polymorphism	-
Q5VTQ0	TT39B_HUMAN	128	T	P	Polymorphism	-
Q5VTQ0	TT39B_HUMAN	420	I	V	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	1066	I	T	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	266	T	M	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	775	R	Q	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	1041	F	L	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	892	D	A	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	662	G	R	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	853	P	S	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	1124	R	Q	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	344	M	T	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	435	Q	R	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	258	D	H	Polymorphism	-
Q5VTT5	MYOM3_HUMAN	528	D	G	Polymorphism	-
Q5VTY9	HHAT_HUMAN	450	N	S	Unclassified	A lung cancer cell line
Q5VTY9	HHAT_HUMAN	182	S	N	Polymorphism	-
Q5VTY9	HHAT_HUMAN	188	C	R	Polymorphism	-
Q5VTY9	HHAT_HUMAN	165	E	G	Polymorphism	-
Q5VTY9	HHAT_HUMAN	448	G	E	Unclassified	A melanoma cell line
Q5VU43	MYOME_HUMAN	150	N	S	Polymorphism	-
Q5VU43	MYOME_HUMAN	708	R	C	Polymorphism	-
Q5VU43	MYOME_HUMAN	1396	R	W	Polymorphism	-
Q5VU43	MYOME_HUMAN	1742	A	S	Polymorphism	-
Q5VU43	MYOME_HUMAN	13	N	S	Polymorphism	-
Q5VU43	MYOME_HUMAN	1359	K	E	Polymorphism	-
Q5VU43	MYOME_HUMAN	410	E	V	Polymorphism	-
Q5VU43	MYOME_HUMAN	1066	A	T	Polymorphism	-
Q5VU43	MYOME_HUMAN	167	A	T	Polymorphism	-
Q5VU43	MYOME_HUMAN	1736	V	E	Polymorphism	-
Q5VU43	MYOME_HUMAN	482	H	R	Polymorphism	-
Q5VU43	MYOME_HUMAN	143	K	E	Polymorphism	-
Q5VU43	MYOME_HUMAN	25	R	L	Polymorphism	-
Q5VU43	MYOME_HUMAN	1013	F	I	Polymorphism	-
Q5VU43	MYOME_HUMAN	49	I	T	Polymorphism	-
Q5VU43	MYOME_HUMAN	171	R	K	Polymorphism	-
Q5VU43	MYOME_HUMAN	681	R	H	Polymorphism	-
Q5VU43	MYOME_HUMAN	391	E	A	Polymorphism	-
Q5VU57	CBPC6_HUMAN	443	V	M	Polymorphism	-
Q5VU65	P210L_HUMAN	1491	V	I	Polymorphism	-
Q5VU92	DC121_HUMAN	19	D	G	Polymorphism	-
Q5VU97	CAHD1_HUMAN	414	M	T	Polymorphism	-
Q5VUA4	ZN318_HUMAN	812	N	S	Unclassified	A breast cancer sample
Q5VUA4	ZN318_HUMAN	1274	G	R	Unclassified	A breast cancer sample
Q5VUA4	ZN318_HUMAN	1583	T	I	Polymorphism	-
Q5VUA4	ZN318_HUMAN	1292	T	I	Polymorphism	-
Q5VUA4	ZN318_HUMAN	870	L	V	Polymorphism	-
Q5VUA4	ZN318_HUMAN	1797	V	A	Polymorphism	-
Q5VUA4	ZN318_HUMAN	407	S	I	Polymorphism	-
Q5VUA4	ZN318_HUMAN	1580	A	T	Polymorphism	-
Q5VUB5	F1711_HUMAN	465	P	S	Polymorphism	-
Q5VUD6	DIK1B_HUMAN	158	S	G	Polymorphism	-
Q5VUG0	SMBT2_HUMAN	675	P	R	Polymorphism	-
Q5VUM1	SDHF4_HUMAN	57	R	C	Polymorphism	-
Q5VUM1	SDHF4_HUMAN	46	Q	R	Polymorphism	-
Q5VUY0	ADCL3_HUMAN	128	L	M	Polymorphism	-
Q5VUY0	ADCL3_HUMAN	104	P	S	Polymorphism	-
Q5VUY0	ADCL3_HUMAN	252	F	C	Polymorphism	-
Q5VUY0	ADCL3_HUMAN	307	M	I	Polymorphism	-
Q5VUY0	ADCL3_HUMAN	186	R	W	Polymorphism	-
Q5VUY0	ADCL3_HUMAN	337	P	L	Polymorphism	-
Q5VV41	ARHGG_HUMAN	137	V	M	Polymorphism	-
Q5VV41	ARHGG_HUMAN	370	H	Y	Polymorphism	-
Q5VV41	ARHGG_HUMAN	681	E	K	Polymorphism	-
Q5VV42	CDKAL_HUMAN	484	K	R	Polymorphism	-
Q5VV43	K0319_HUMAN	311	A	T	Polymorphism	-
Q5VV43	K0319_HUMAN	1013	Y	C	Polymorphism	-
Q5VV43	K0319_HUMAN	919	G	A	Polymorphism	-
Q5VV43	K0319_HUMAN	567	G	S	Polymorphism	-
Q5VV43	K0319_HUMAN	142	T	P	Polymorphism	-
Q5VV43	K0319_HUMAN	773	S	G	Polymorphism	-
Q5VV43	K0319_HUMAN	774	V	A	Polymorphism	-
Q5VV63	ATRN1_HUMAN	989	S	N	Polymorphism	-
Q5VV67	PPRC1_HUMAN	834	P	R	Polymorphism	-
Q5VV67	PPRC1_HUMAN	536	S	G	Polymorphism	-
Q5VV67	PPRC1_HUMAN	1288	R	Q	Polymorphism	-
Q5VVB8	TM244_HUMAN	80	F	L	Polymorphism	-
Q5VVB8	TM244_HUMAN	111	F	V	Polymorphism	-
Q5VVB8	TM244_HUMAN	60	N	I	Polymorphism	-
Q5VVB8	TM244_HUMAN	86	E	G	Polymorphism	-
Q5VVJ2	MYSM1_HUMAN	656	H	R	Disease	Bone marrow failure syndrome 4 (BMFS4) [MIM:618116]
Q5VVJ2	MYSM1_HUMAN	200	C	S	Polymorphism	-
Q5VVJ2	MYSM1_HUMAN	825	E	K	Polymorphism	-
Q5VVJ2	MYSM1_HUMAN	264	T	A	Polymorphism	-
Q5VVM6	CCD30_HUMAN	772	H	N	Polymorphism	-
Q5VVW2	GARL3_HUMAN	752	A	S	Polymorphism	-
Q5VVW2	GARL3_HUMAN	108	H	R	Polymorphism	-
Q5VVX9	UBE2U_HUMAN	90	I	T	Polymorphism	-
Q5VVY1	NTM1B_HUMAN	150	S	P	Polymorphism	-
Q5VVY1	NTM1B_HUMAN	247	S	R	Polymorphism	-
Q5VVY1	NTM1B_HUMAN	72	A	G	Polymorphism	-
Q5VW00	DC122_HUMAN	147	H	Q	Polymorphism	-
Q5VW36	FOCAD_HUMAN	523	I	V	Polymorphism	-
Q5VW36	FOCAD_HUMAN	718	T	S	Polymorphism	-
Q5VW36	FOCAD_HUMAN	166	L	S	Polymorphism	-
Q5VW36	FOCAD_HUMAN	1668	K	E	Polymorphism	-
Q5VW36	FOCAD_HUMAN	1373	T	S	Polymorphism	-
Q5VW36	FOCAD_HUMAN	721	E	K	Polymorphism	-
Q5VW36	FOCAD_HUMAN	1373	T	P	Polymorphism	-
Q5VW36	FOCAD_HUMAN	234	V	I	Polymorphism	-
Q5VW36	FOCAD_HUMAN	1373	T	A	Polymorphism	-
Q5VW38	GP107_HUMAN	189	A	P	Polymorphism	-
Q5VWC8	HACD4_HUMAN	36	T	A	Polymorphism	-
Q5VWG9	TAF3_HUMAN	696	V	A	Polymorphism	-
Q5VWG9	TAF3_HUMAN	349	S	T	Polymorphism	-
Q5VWG9	TAF3_HUMAN	696	V	L	Polymorphism	-
Q5VWG9	TAF3_HUMAN	442	N	S	Polymorphism	-
Q5VWI1	TCRGL_HUMAN	437	K	T	Unclassified	A colorectal cancer sample
Q5VWI1	TCRGL_HUMAN	529	E	K	Polymorphism	-
Q5VWI1	TCRGL_HUMAN	339	P	Q	Polymorphism	-
Q5VWI1	TCRGL_HUMAN	566	Q	K	Polymorphism	-
Q5VWJ9	SNX30_HUMAN	83	D	H	Polymorphism	-
Q5VWJ9	SNX30_HUMAN	125	P	A	Polymorphism	-
Q5VWK5	IL23R_HUMAN	175	T	N	Polymorphism	-
Q5VWK5	IL23R_HUMAN	3	Q	H	Polymorphism	-
Q5VWK5	IL23R_HUMAN	381	R	Q	Polymorphism	-
Q5VWK5	IL23R_HUMAN	310	L	P	Polymorphism	-
Q5VWN6	TASO2_HUMAN	1782	T	I	Polymorphism	-
Q5VWN6	TASO2_HUMAN	724	S	Y	Polymorphism	-
Q5VWN6	TASO2_HUMAN	499	C	G	Polymorphism	-
Q5VWN6	TASO2_HUMAN	1206	V	M	Polymorphism	-
Q5VWN6	TASO2_HUMAN	630	A	D	Polymorphism	-
Q5VWN6	TASO2_HUMAN	807	I	V	Polymorphism	-
Q5VWN6	TASO2_HUMAN	1578	P	S	Polymorphism	-
Q5VWN6	TASO2_HUMAN	2288	K	R	Polymorphism	-
Q5VWN6	TASO2_HUMAN	1679	V	A	Polymorphism	-
Q5VWN6	TASO2_HUMAN	2404	S	N	Polymorphism	-
Q5VWN6	TASO2_HUMAN	1075	R	P	Polymorphism	-
Q5VWP2	TET5C_HUMAN	67	H	Q	Polymorphism	-
Q5VWP3	MLIP_HUMAN	376	P	S	Polymorphism	-
Q5VWP3	MLIP_HUMAN	159	V	I	Polymorphism	-
Q5VWP3	MLIP_HUMAN	6	R	H	Polymorphism	-
Q5VWP3	MLIP_HUMAN	320	S	T	Polymorphism	-
Q5VWQ8	DAB2P_HUMAN	59	S	F	Polymorphism	-
Q5VWT5	FYB2_HUMAN	125	I	M	Polymorphism	-
Q5VWX1	KHDR2_HUMAN	308	G	A	Polymorphism	-
Q5VWZ2	LYPL1_HUMAN	197	L	V	Polymorphism	-
Q5VWZ2	LYPL1_HUMAN	131	I	M	Polymorphism	-
Q5VX52	SPAT1_HUMAN	175	V	L	Polymorphism	-
Q5VXI9	LIPN_HUMAN	244	T	N	Polymorphism	-
Q5VXJ0	LIPK_HUMAN	331	M	I	Polymorphism	-
Q5VXJ0	LIPK_HUMAN	391	I	T	Polymorphism	-
Q5VXM1	CDCP2_HUMAN	244	G	R	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	788	R	K	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	968	L	P	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	1425	R	C	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	1174	E	G	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	416	H	R	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	1162	I	T	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	226	T	S	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	1380	N	K	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	649	I	T	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	932	Y	C	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	734	M	L	Polymorphism	-
Q5VXU9	SHOC1_HUMAN	809	N	K	Polymorphism	-
Q5VY09	IER5_HUMAN	202	Q	R	Polymorphism	-
Q5VY09	IER5_HUMAN	168	V	I	Polymorphism	-
Q5VY09	IER5_HUMAN	92	R	H	Polymorphism	-
Q5VY09	IER5_HUMAN	285	P	S	Polymorphism	-
Q5VY09	IER5_HUMAN	194	R	G	Polymorphism	-
Q5VY43	PEAR1_HUMAN	234	S	P	Polymorphism	-
Q5VY43	PEAR1_HUMAN	885	R	H	Polymorphism	-
Q5VY43	PEAR1_HUMAN	848	N	K	Polymorphism	-
Q5VY43	PEAR1_HUMAN	903	N	D	Polymorphism	-
Q5VY80	ULBP6_HUMAN	85	M	T	Polymorphism	-
Q5VY80	ULBP6_HUMAN	147	T	I	Polymorphism	-
Q5VY80	ULBP6_HUMAN	106	L	R	Polymorphism	-
Q5VY80	ULBP6_HUMAN	26	R	G	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1357	K	N	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1516	E	K	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1417	V	A	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1941	S	N	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1807	M	T	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1602	V	I	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	793	D	H	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	2013	M	R	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	666	A	V	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1721	H	Q	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1277	I	V	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	887	S	N	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1266	D	A	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1683	L	I	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1513	D	G	Polymorphism	-
Q5VYJ5	MALR1_HUMAN	1895	P	S	Polymorphism	-
Q5VYK3	ECM29_HUMAN	472	T	S	Polymorphism	-
Q5VYM1	CI131_HUMAN	222	W	L	Polymorphism	-
Q5VYM1	CI131_HUMAN	623	S	T	Polymorphism	-
Q5VYM1	CI131_HUMAN	916	P	S	Polymorphism	-
Q5VYM1	CI131_HUMAN	285	L	F	Polymorphism	-
Q5VYM1	CI131_HUMAN	437	L	V	Polymorphism	-
Q5VYS4	MEDAG_HUMAN	59	R	G	Polymorphism	-
Q5VYS8	TUT7_HUMAN	40	A	V	Polymorphism	-
Q5VYV7	SLX4I_HUMAN	317	R	Q	Polymorphism	-
Q5VYX0	RNLS_HUMAN	37	E	D	Polymorphism	-
Q5VYY1	ANR22_HUMAN	79	Y	H	Polymorphism	-
Q5VYY1	ANR22_HUMAN	177	R	I	Polymorphism	-
Q5VYY1	ANR22_HUMAN	73	E	G	Polymorphism	-
Q5VYY1	ANR22_HUMAN	148	Q	P	Polymorphism	-
Q5VYY2	LIPM_HUMAN	418	R	W	Polymorphism	-
Q5VYY2	LIPM_HUMAN	274	L	S	Polymorphism	-
Q5VZ03	NXNL2_HUMAN	76	S	C	Polymorphism	-
Q5VZ19	TDR10_HUMAN	181	R	Q	Polymorphism	-
Q5VZ19	TDR10_HUMAN	215	V	I	Polymorphism	-
Q5VZ46	K1614_HUMAN	740	R	W	Polymorphism	-
Q5VZ46	K1614_HUMAN	1078	N	D	Polymorphism	-
Q5VZ46	K1614_HUMAN	64	L	P	Polymorphism	-
Q5VZ46	K1614_HUMAN	801	L	F	Polymorphism	-
Q5VZ46	K1614_HUMAN	214	H	Y	Polymorphism	-
Q5VZ66	JKIP3_HUMAN	795	R	G	Unclassified	A breast cancer sample
Q5VZ66	JKIP3_HUMAN	493	M	V	Polymorphism	-
Q5VZ89	DEN4C_HUMAN	1343	N	H	Polymorphism	-
Q5VZ89	DEN4C_HUMAN	1266	T	A	Polymorphism	-
Q5VZ89	DEN4C_HUMAN	1227	V	G	Polymorphism	-
Q5VZB9	DMRTA_HUMAN	342	R	C	Unclassified	A colorectal cancer sample
Q5VZK9	CARL1_HUMAN	77	V	I	Polymorphism	-
Q5VZK9	CARL1_HUMAN	545	P	L	Polymorphism	-
Q5VZK9	CARL1_HUMAN	1117	N	S	Polymorphism	-
Q5VZK9	CARL1_HUMAN	639	A	G	Polymorphism	-
Q5VZL5	ZMYM4_HUMAN	1410	R	W	Unclassified	A colorectal cancer sample
Q5VZL5	ZMYM4_HUMAN	452	V	I	Polymorphism	-
Q5VZP5	DUS27_HUMAN	1124	T	N	Polymorphism	-
Q5VZP5	DUS27_HUMAN	466	R	H	Polymorphism	-
Q5VZP5	DUS27_HUMAN	505	A	T	Polymorphism	-
Q5VZP5	DUS27_HUMAN	265	E	D	Polymorphism	-
Q5VZP5	DUS27_HUMAN	855	K	Q	Polymorphism	-
Q5VZQ5	TEX36_HUMAN	38	E	Q	Polymorphism	-
Q5VZT2	CJ113_HUMAN	110	D	H	Polymorphism	-
Q5VZT2	CJ113_HUMAN	72	R	G	Polymorphism	-
Q5VZV1	MT21C_HUMAN	15	G	R	Polymorphism	-
Q5VZV1	MT21C_HUMAN	46	N	S	Polymorphism	-
Q5W041	ARMC3_HUMAN	626	R	Q	Polymorphism	-
Q5W041	ARMC3_HUMAN	345	E	G	Polymorphism	-
Q5W041	ARMC3_HUMAN	608	S	P	Polymorphism	-
Q5W064	LIPJ_HUMAN	210	I	V	Polymorphism	-
Q5W0A0	ERI6B_HUMAN	178	E	K	Polymorphism	-
Q5W0A0	ERI6B_HUMAN	453	H	R	Polymorphism	-
Q5W0A0	ERI6B_HUMAN	99	E	G	Polymorphism	-
Q5W0A0	ERI6B_HUMAN	303	L	P	Polymorphism	-
Q5W0A0	ERI6B_HUMAN	63	E	D	Polymorphism	-
Q5W0A0	ERI6B_HUMAN	427	T	I	Polymorphism	-
Q5W0A0	ERI6B_HUMAN	565	R	C	Polymorphism	-
Q5W0A0	ERI6B_HUMAN	439	P	R	Polymorphism	-
Q5W0A0	ERI6B_HUMAN	653	V	F	Polymorphism	-
Q5W0A0	ERI6B_HUMAN	174	S	T	Polymorphism	-
Q5W0Q7	USPL1_HUMAN	1043	T	S	Polymorphism	-
Q5W0Q7	USPL1_HUMAN	583	I	V	Polymorphism	-
Q5W0Q7	USPL1_HUMAN	173	E	G	Polymorphism	-
Q5W0Q7	USPL1_HUMAN	739	S	C	Polymorphism	-
Q5W0Q7	USPL1_HUMAN	384	P	S	Polymorphism	-
Q5W0Q7	USPL1_HUMAN	531	L	S	Polymorphism	-
Q5W0Q7	USPL1_HUMAN	522	A	P	Polymorphism	-
Q5W0Q7	USPL1_HUMAN	786	L	I	Polymorphism	-
Q5W0Q7	USPL1_HUMAN	950	S	N	Polymorphism	-
Q5W0U4	BSPRY_HUMAN	293	Q	H	Polymorphism	-
Q5W0U4	BSPRY_HUMAN	261	A	P	Polymorphism	-
Q5W0U4	BSPRY_HUMAN	374	T	I	Polymorphism	-
Q5W0V3	F16B1_HUMAN	408	L	I	Polymorphism	-
Q5W0V3	F16B1_HUMAN	631	F	L	Polymorphism	-
Q5W186	CST9_HUMAN	48	L	F	Polymorphism	-
Q5XG87	PAPD7_HUMAN	556	N	S	Polymorphism	-
Q5XG87	PAPD7_HUMAN	626	G	S	Polymorphism	-
Q5XG99	LYSM4_HUMAN	161	A	V	Polymorphism	-
Q5XG99	LYSM4_HUMAN	180	A	G	Polymorphism	-
Q5XG99	LYSM4_HUMAN	157	A	V	Polymorphism	-
Q5XKE5	K2C79_HUMAN	81	L	S	Polymorphism	-
Q5XKE5	K2C79_HUMAN	266	H	R	Polymorphism	-
Q5XKE5	K2C79_HUMAN	195	F	L	Polymorphism	-
Q5XKE5	K2C79_HUMAN	393	A	V	Polymorphism	-
Q5XKL5	BTBD8_HUMAN	136	K	R	Polymorphism	-
Q5XKL5	BTBD8_HUMAN	60	V	I	Polymorphism	-
Q5XKR9	F104B_HUMAN	60	S	G	Polymorphism	-
Q5XPI4	RN123_HUMAN	51	P	R	Polymorphism	-
Q5XPI4	RN123_HUMAN	387	R	Q	Polymorphism	-
Q5XPI4	RN123_HUMAN	854	R	H	Polymorphism	-
Q5XPI4	RN123_HUMAN	596	K	E	Polymorphism	-
Q5XUX1	FBXW9_HUMAN	70	R	K	Polymorphism	-
Q5XUX1	FBXW9_HUMAN	219	T	A	Polymorphism	-
Q5XX13	FBW10_HUMAN	821	A	T	Polymorphism	-
Q5XX13	FBW10_HUMAN	23	I	N	Polymorphism	-
Q5XX13	FBW10_HUMAN	372	R	G	Polymorphism	-
Q5XXA6	ANO1_HUMAN	608	F	S	Polymorphism	-
Q5XXA6	ANO1_HUMAN	983	G	R	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	113	G	R	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	67	V	L	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	86	D	V	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	103	A	L	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	56	L	Q	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	96	I	F	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	66	N	S	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	66	N	D	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	76	F	Y	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	45	H	Y	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	66	N	I	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	77	R	L	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	97	L	R	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	100	E	K	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	55	F	Y	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	100	E	A	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	77	R	W	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	66	N	F	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	96	I	L	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	54	R	L	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	86	D	S	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	79	V	L	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	45	H	Q	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	114	V	A	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	86	D	A	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	89	Y	S	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	66	N	Y	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	61	H	Y	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	115	V	D	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	100	E	R	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	115	V	G	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	41	T	K	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	103	A	E	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	106	T	N	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	89	Y	H	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	99	D	Q	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	42	S	G	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	57	D	E	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	39	Y	L	Polymorphism	-
Q5Y7A7	2B1D_HUMAN	40	S	L	Polymorphism	-
Q5ZPR3	CD276_HUMAN	315	P	L	Polymorphism	-
Q5ZPR3	CD276_HUMAN	279	A	T	Polymorphism	-
Q5ZPR3	CD276_HUMAN	267	R	H	Polymorphism	-
Q5ZPR3	CD276_HUMAN	329	R	S	Polymorphism	-
Q5ZPR3	CD276_HUMAN	160	T	M	Polymorphism	-
Q5ZPR3	CD276_HUMAN	111	R	S	Polymorphism	-
Q5ZPR3	CD276_HUMAN	378	T	M	Polymorphism	-
Q5ZPR3	CD276_HUMAN	137	Q	L	Polymorphism	-
Q5ZPR3	CD276_HUMAN	97	P	L	Polymorphism	-
Q60I27	AL2CL_HUMAN	576	L	F	Unclassified	A breast cancer sample
Q60I27	AL2CL_HUMAN	280	Q	E	Unclassified	A breast cancer sample
Q60I27	AL2CL_HUMAN	29	Q	R	Polymorphism	-
Q60I27	AL2CL_HUMAN	45	E	Q	Polymorphism	-
Q63HK3	ZKSC2_HUMAN	253	L	F	Polymorphism	-
Q63HK3	ZKSC2_HUMAN	947	P	S	Polymorphism	-
Q63HK3	ZKSC2_HUMAN	615	E	D	Polymorphism	-
Q63HK5	TSH3_HUMAN	469	E	G	Polymorphism	-
Q63HK5	TSH3_HUMAN	687	P	L	Polymorphism	-
Q63HM2	PCX4_HUMAN	1000	G	S	Polymorphism	-
Q63HM2	PCX4_HUMAN	770	Q	H	Polymorphism	-
Q63HM2	PCX4_HUMAN	811	D	Y	Polymorphism	-
Q63HN1	F205B_HUMAN	203	D	E	Polymorphism	-
Q63HN1	F205B_HUMAN	72	N	K	Polymorphism	-
Q63HN8	RN213_HUMAN	4185	K	T	Unclassified	-
Q63HN8	RN213_HUMAN	4399	A	T	Disease	Moyamoya disease 2 (MYMY2) [MIM:607151]
Q63HN8	RN213_HUMAN	4367	Q	L	Unclassified	-
Q63HN8	RN213_HUMAN	4765	V	M	Unclassified	-
Q63HN8	RN213_HUMAN	4950	E	D	Unclassified	-
Q63HN8	RN213_HUMAN	4237	D	E	Unclassified	-
Q63HN8	RN213_HUMAN	4677	W	L	Polymorphism	-
Q63HN8	RN213_HUMAN	4567	V	M	Polymorphism	-
Q63HN8	RN213_HUMAN	4146	V	A	Unclassified	-
Q63HN8	RN213_HUMAN	5136	M	I	Unclassified	-
Q63HN8	RN213_HUMAN	3962	N	D	Unclassified	-
Q63HN8	RN213_HUMAN	4062	R	Q	Unclassified	-
Q63HN8	RN213_HUMAN	4863	D	N	Unclassified	-
Q63HN8	RN213_HUMAN	3997	C	Y	Unclassified	-
Q63HN8	RN213_HUMAN	4631	L	V	Unclassified	-
Q63HN8	RN213_HUMAN	4586	T	P	Unclassified	-
Q63HN8	RN213_HUMAN	3933	V	M	Unclassified	-
Q63HN8	RN213_HUMAN	5021	A	V	Polymorphism	-
Q63HN8	RN213_HUMAN	5163	V	I	Unclassified	-
Q63HN8	RN213_HUMAN	4019	R	C	Unclassified	-
Q63HN8	RN213_HUMAN	2554	D	E	Polymorphism	-
Q63HN8	RN213_HUMAN	4076	I	V	Unclassified	-
Q63HN8	RN213_HUMAN	4042	E	K	Unclassified	-
Q63HN8	RN213_HUMAN	4007	P	R	Unclassified	-
Q63HN8	RN213_HUMAN	3915	E	G	Polymorphism	-
Q63HN8	RN213_HUMAN	1622	A	V	Unclassified	-
Q63HN8	RN213_HUMAN	4118	S	F	Unclassified	-
Q63HN8	RN213_HUMAN	3922	R	Q	Unclassified	-
Q63HN8	RN213_HUMAN	4131	R	C	Unclassified	-
Q63HN8	RN213_HUMAN	5176	E	G	Unclassified	-
Q63HN8	RN213_HUMAN	4732	K	T	Unclassified	-
Q63HN8	RN213_HUMAN	4608	P	S	Unclassified	-
Q63HN8	RN213_HUMAN	4810	R	K	Disease	Moyamoya disease 2 (MYMY2) [MIM:607151]
Q63HN8	RN213_HUMAN	5160	D	E	Unclassified	-
Q63HN8	RN213_HUMAN	3891	M	V	Unclassified	-
Q63HN8	RN213_HUMAN	4013	D	N	Disease	Moyamoya disease 2 (MYMY2) [MIM:607151]
Q63HQ0	AP1AR_HUMAN	297	T	I	Polymorphism	-
Q63HQ2	EGFLA_HUMAN	576	H	N	Polymorphism	-
Q63HQ2	EGFLA_HUMAN	473	T	M	Polymorphism	-
Q63HQ2	EGFLA_HUMAN	111	R	H	Polymorphism	-
Q63HQ2	EGFLA_HUMAN	229	W	R	Polymorphism	-
Q63HQ2	EGFLA_HUMAN	26	R	P	Polymorphism	-
Q63HQ2	EGFLA_HUMAN	745	V	M	Polymorphism	-
Q63HR2	TNS2_HUMAN	353	S	T	Polymorphism	-
Q63HR2	TNS2_HUMAN	670	A	T	Polymorphism	-
Q63ZY3	KANK2_HUMAN	118	G	S	Polymorphism	-
Q63ZY3	KANK2_HUMAN	676	S	F	Disease	Nephrotic syndrome 16 (NPHS16) [MIM:617783]
Q63ZY3	KANK2_HUMAN	181	S	G	Disease	Nephrotic syndrome 16 (NPHS16) [MIM:617783]
Q63ZY3	KANK2_HUMAN	670	A	V	Disease	Palmoplantar keratoderma and woolly hair (PPKWH) [MIM:616099]
Q63ZY3	KANK2_HUMAN	401	M	T	Polymorphism	-
Q63ZY6	NSN5C_HUMAN	90	A	V	Polymorphism	-
Q63ZY6	NSN5C_HUMAN	47	W	S	Polymorphism	-
Q63ZY6	NSN5C_HUMAN	303	K	R	Polymorphism	-
Q63ZY6	NSN5C_HUMAN	272	C	R	Polymorphism	-
Q64LD2	WDR25_HUMAN	119	T	M	Polymorphism	-
Q64LD2	WDR25_HUMAN	149	H	R	Polymorphism	-
Q64LD2	WDR25_HUMAN	88	W	R	Polymorphism	-
Q64LD2	WDR25_HUMAN	59	K	R	Polymorphism	-
Q658L1	SAXO2_HUMAN	34	P	L	Polymorphism	-
Q658L1	SAXO2_HUMAN	8	S	G	Polymorphism	-
Q658L1	SAXO2_HUMAN	225	W	R	Polymorphism	-
Q658N2	WSCD1_HUMAN	212	H	Y	Polymorphism	-
Q658P3	STEA3_HUMAN	184	A	T	Polymorphism	-
Q658Y4	F91A1_HUMAN	704	I	V	Polymorphism	-
Q658Y4	F91A1_HUMAN	800	C	Y	Polymorphism	-
Q659C4	LAR1B_HUMAN	660	R	H	Polymorphism	-
Q659C4	LAR1B_HUMAN	462	P	R	Polymorphism	-
Q66GS9	CP135_HUMAN	769	I	L	Polymorphism	-
Q66K14	TBC9B_HUMAN	1119	K	T	Polymorphism	-
Q66K14	TBC9B_HUMAN	706	V	I	Polymorphism	-
Q66K14	TBC9B_HUMAN	1086	P	Q	Unclassified	A breast cancer sample
Q66K14	TBC9B_HUMAN	240	L	P	Polymorphism	-
Q66K74	MAP1S_HUMAN	372	L	V	Polymorphism	-
Q66K74	MAP1S_HUMAN	411	S	C	Polymorphism	-
Q66K74	MAP1S_HUMAN	538	P	Q	Polymorphism	-
Q66K79	CBPZ_HUMAN	5	L	P	Polymorphism	-
Q66K79	CBPZ_HUMAN	130	Q	L	Polymorphism	-
Q66K79	CBPZ_HUMAN	486	I	T	Polymorphism	-
Q66K79	CBPZ_HUMAN	6	P	L	Polymorphism	-
Q66K79	CBPZ_HUMAN	501	T	M	Polymorphism	-
Q66K80	RUAS1_HUMAN	231	R	S	Polymorphism	-
Q66K89	E4F1_HUMAN	355	V	I	Polymorphism	-
Q66K89	E4F1_HUMAN	167	R	H	Polymorphism	-
Q66LE6	2ABD_HUMAN	358	G	S	Polymorphism	-
Q66PJ3	AR6P4_HUMAN	286	K	R	Unclassified	-
Q66PJ3	AR6P4_HUMAN	149	P	A	Polymorphism	-
Q674R7	ATG9B_HUMAN	166	P	L	Polymorphism	-
Q674X7	KAZRN_HUMAN	706	A	T	Polymorphism	-
Q674X7	KAZRN_HUMAN	763	R	C	Polymorphism	-
Q676U5	A16L1_HUMAN	300	T	A	Disease	Inflammatory bowel disease 10 (IBD10) [MIM:611081]
Q676U5	A16L1_HUMAN	307	E	K	Polymorphism	-
Q67FW5	B3GNL_HUMAN	341	A	T	Polymorphism	-
Q684P5	RPGP2_HUMAN	202	L	M	Polymorphism	-
Q685J3	MUC17_HUMAN	1375	C	R	Polymorphism	-
Q685J3	MUC17_HUMAN	1246	T	S	Polymorphism	-
Q685J3	MUC17_HUMAN	1348	L	P	Polymorphism	-
Q685J3	MUC17_HUMAN	4334	D	N	Polymorphism	-
Q685J3	MUC17_HUMAN	982	T	M	Polymorphism	-
Q685J3	MUC17_HUMAN	227	K	Q	Polymorphism	-
Q685J3	MUC17_HUMAN	1246	T	N	Polymorphism	-
Q685J3	MUC17_HUMAN	925	P	R	Polymorphism	-
Q685J3	MUC17_HUMAN	1249	P	A	Polymorphism	-
Q685J3	MUC17_HUMAN	942	R	S	Polymorphism	-
Q685J3	MUC17_HUMAN	2159	R	G	Polymorphism	-
Q685J3	MUC17_HUMAN	1480	V	A	Polymorphism	-
Q685J3	MUC17_HUMAN	571	P	L	Polymorphism	-
Q685J3	MUC17_HUMAN	2096	A	T	Polymorphism	-
Q685J3	MUC17_HUMAN	4482	R	Q	Polymorphism	-
Q685J3	MUC17_HUMAN	3299	S	N	Polymorphism	-
Q685J3	MUC17_HUMAN	427	A	T	Polymorphism	-
Q685J3	MUC17_HUMAN	1130	I	T	Polymorphism	-
Q685J3	MUC17_HUMAN	1242	S	T	Polymorphism	-
Q685J3	MUC17_HUMAN	272	G	E	Polymorphism	-
Q687X5	STEA4_HUMAN	122	A	T	Polymorphism	-
Q687X5	STEA4_HUMAN	75	G	D	Polymorphism	-
Q68BL7	OLM2A_HUMAN	309	T	A	Polymorphism	-
Q68BL7	OLM2A_HUMAN	425	R	Q	Polymorphism	-
Q68BL8	OLM2B_HUMAN	10	Y	C	Polymorphism	-
Q68BL8	OLM2B_HUMAN	470	W	R	Polymorphism	-
Q68CJ6	SLIP_HUMAN	23	R	P	Polymorphism	-
Q68CJ6	SLIP_HUMAN	492	R	W	Polymorphism	-
Q68CJ6	SLIP_HUMAN	474	S	N	Polymorphism	-
Q68CJ6	SLIP_HUMAN	328	Q	R	Polymorphism	-
Q68CJ6	SLIP_HUMAN	180	S	G	Polymorphism	-
Q68CL5	TPGS2_HUMAN	47	R	C	Polymorphism	-
Q68CP4	HGNAT_HUMAN	152	R	W	Disease	Retinitis pigmentosa 73 (RP73) [MIM:616544]
Q68CP4	HGNAT_HUMAN	510	M	K	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	643	A	T	Unclassified	Retinitis pigmentosa 73 (RP73) [MIM:616544]
Q68CP4	HGNAT_HUMAN	104	C	F	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	452	G	V	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	569	S	L	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	161	G	A	Disease	Retinitis pigmentosa 73 (RP73) [MIM:616544]
Q68CP4	HGNAT_HUMAN	82	A	V	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	599	P	L	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	280	I	R	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	643	A	T	Unclassified	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	311	P	L	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	509	V	L	Polymorphism	-
Q68CP4	HGNAT_HUMAN	499	E	K	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	452	G	S	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	372	R	C	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	301	N	K	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	567	S	C	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	141	L	P	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	517	A	E	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	372	R	H	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	514	G	E	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	551	K	Q	Polymorphism	-
Q68CP4	HGNAT_HUMAN	431	W	C	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	546	S	F	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	590	D	V	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	165	L	P	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	473	L	P	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CP4	HGNAT_HUMAN	265	P	Q	Polymorphism	-
Q68CP4	HGNAT_HUMAN	290	G	R	Disease	Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
Q68CQ1	MROH7_HUMAN	312	S	F	Polymorphism	-
Q68CQ1	MROH7_HUMAN	183	S	Y	Unclassified	A breast cancer sample
Q68CQ1	MROH7_HUMAN	182	H	R	Polymorphism	-
Q68CQ1	MROH7_HUMAN	290	V	M	Polymorphism	-
Q68CQ1	MROH7_HUMAN	306	Y	D	Polymorphism	-
Q68CQ1	MROH7_HUMAN	455	K	R	Polymorphism	-
Q68CQ1	MROH7_HUMAN	618	H	R	Polymorphism	-
Q68CQ1	MROH7_HUMAN	352	T	M	Polymorphism	-
Q68CQ1	MROH7_HUMAN	316	E	G	Polymorphism	-
Q68CQ1	MROH7_HUMAN	509	V	A	Polymorphism	-
Q68CQ4	DIEXF_HUMAN	67	Q	E	Polymorphism	-
Q68CQ7	GL8D1_HUMAN	210	R	H	Polymorphism	-
Q68CR1	SE1L3_HUMAN	1054	W	C	Polymorphism	-
Q68CR1	SE1L3_HUMAN	401	I	V	Polymorphism	-
Q68CR1	SE1L3_HUMAN	1122	P	S	Polymorphism	-
Q68CR1	SE1L3_HUMAN	107	Q	R	Polymorphism	-
Q68CR1	SE1L3_HUMAN	554	I	V	Polymorphism	-
Q68CR7	LRC66_HUMAN	342	G	A	Polymorphism	-
Q68CZ1	FTM_HUMAN	1264	D	Y	Unclassified	-
Q68CZ1	FTM_HUMAN	937	R	L	Polymorphism	-
Q68CZ1	FTM_HUMAN	615	T	P	Disease	Joubert syndrome 7 (JBTS7) [MIM:611560]
Q68CZ1	FTM_HUMAN	229	A	T	Polymorphism	-
Q68CZ1	FTM_HUMAN	1264	D	N	Polymorphism	-
Q68CZ1	FTM_HUMAN	550	Q	R	Disease	Joubert syndrome 7 (JBTS7) [MIM:611560]
Q68CZ1	FTM_HUMAN	633	C	R	Disease	Joubert syndrome 7 (JBTS7) [MIM:611560]
Q68CZ1	FTM_HUMAN	447	L	S	Polymorphism	-
Q68CZ1	FTM_HUMAN	695	A	P	Disease	Joubert syndrome 7 (JBTS7) [MIM:611560]
Q68CZ1	FTM_HUMAN	659	S	P	Disease	COACH syndrome (COACHS) [MIM:216360]
Q68CZ1	FTM_HUMAN	647	V	I	Polymorphism	-
Q68CZ1	FTM_HUMAN	1236	R	C	Disease	Meckel syndrome 5 (MKS5) [MIM:611561]
Q68CZ1	FTM_HUMAN	199	S	G	Unclassified	-
Q68CZ1	FTM_HUMAN	1025	G	S	Polymorphism	-
Q68CZ1	FTM_HUMAN	744	R	Q	Polymorphism	-
Q68CZ1	FTM_HUMAN	1183	A	G	Polymorphism	-
Q68CZ1	FTM_HUMAN	677	T	I	Disease	Joubert syndrome 7 (JBTS7) [MIM:611560]
Q68CZ1	FTM_HUMAN	546	L	F	Polymorphism	-
Q68CZ1	FTM_HUMAN	393	E	K	Disease	Joubert syndrome 7 (JBTS7) [MIM:611560]
Q68CZ2	TENS3_HUMAN	679	G	S	Polymorphism	-
Q68CZ2	TENS3_HUMAN	1034	E	K	Polymorphism	-
Q68CZ2	TENS3_HUMAN	600	Q	H	Polymorphism	-
Q68CZ6	HAUS3_HUMAN	586	I	T	Polymorphism	-
Q68D06	SLN13_HUMAN	50	A	T	Polymorphism	-
Q68D06	SLN13_HUMAN	4	N	S	Polymorphism	-
Q68D06	SLN13_HUMAN	433	P	L	Polymorphism	-
Q68D06	SLN13_HUMAN	652	E	K	Polymorphism	-
Q68D06	SLN13_HUMAN	642	D	V	Polymorphism	-
Q68D10	SPT2_HUMAN	617	K	R	Polymorphism	-
Q68D10	SPT2_HUMAN	317	S	F	Polymorphism	-
Q68D10	SPT2_HUMAN	447	R	Q	Polymorphism	-
Q68D51	DEN2C_HUMAN	170	D	G	Polymorphism	-
Q68D51	DEN2C_HUMAN	2	D	E	Polymorphism	-
Q68D86	C102B_HUMAN	298	K	R	Polymorphism	-
Q68D86	C102B_HUMAN	429	A	P	Polymorphism	-
Q68D86	C102B_HUMAN	370	E	G	Polymorphism	-
Q68D86	C102B_HUMAN	153	K	N	Polymorphism	-
Q68D86	C102B_HUMAN	346	C	F	Polymorphism	-
Q68D86	C102B_HUMAN	425	N	K	Polymorphism	-
Q68D91	MBLC2_HUMAN	128	T	A	Polymorphism	-
Q68DA7	FMN1_HUMAN	686	L	P	Polymorphism	-
Q68DC2	ANKS6_HUMAN	441	Q	R	Disease	Nephronophthisis 16 (NPHP16) [MIM:615382]
Q68DC2	ANKS6_HUMAN	440	R	Q	Polymorphism	-
Q68DC2	ANKS6_HUMAN	644	V	I	Polymorphism	-
Q68DC2	ANKS6_HUMAN	312	A	P	Disease	Nephronophthisis 16 (NPHP16) [MIM:615382]
Q68DC2	ANKS6_HUMAN	222	R	W	Polymorphism	-
Q68DC2	ANKS6_HUMAN	640	G	S	Polymorphism	-
Q68DC2	ANKS6_HUMAN	735	P	A	Polymorphism	-
Q68DD2	PA24F_HUMAN	740	M	V	Polymorphism	-
Q68DD2	PA24F_HUMAN	30	G	V	Polymorphism	-
Q68DE3	USF3_HUMAN	222	P	A	Polymorphism	-
Q68DE3	USF3_HUMAN	907	A	E	Polymorphism	-
Q68DE3	USF3_HUMAN	943	V	G	Polymorphism	-
Q68DE3	USF3_HUMAN	1966	A	V	Polymorphism	-
Q68DE3	USF3_HUMAN	2200	A	V	Polymorphism	-
Q68DK2	ZFY26_HUMAN	1164	A	E	Unclassified	A breast cancer sample
Q68DK2	ZFY26_HUMAN	1891	S	N	Polymorphism	-
Q68DK2	ZFY26_HUMAN	1122	A	V	Polymorphism	-
Q68DK2	ZFY26_HUMAN	1457	C	Y	Polymorphism	-
Q68DK2	ZFY26_HUMAN	898	T	S	Polymorphism	-
Q68DK2	ZFY26_HUMAN	1945	R	Q	Unclassified	A breast cancer sample
Q68DK2	ZFY26_HUMAN	429	K	E	Polymorphism	-
Q68DK2	ZFY26_HUMAN	2411	R	H	Polymorphism	-
Q68DK2	ZFY26_HUMAN	1071	S	N	Polymorphism	-
Q68DK2	ZFY26_HUMAN	951	T	M	Polymorphism	-
Q68DK2	ZFY26_HUMAN	1103	P	L	Polymorphism	-
Q68DN1	CB016_HUMAN	1500	S	F	Polymorphism	-
Q68DN1	CB016_HUMAN	357	R	G	Polymorphism	-
Q68DN1	CB016_HUMAN	660	A	E	Polymorphism	-
Q68DN1	CB016_HUMAN	1665	S	P	Polymorphism	-
Q68DN1	CB016_HUMAN	505	D	V	Polymorphism	-
Q68DN1	CB016_HUMAN	685	V	A	Polymorphism	-
Q68DN1	CB016_HUMAN	774	I	V	Polymorphism	-
Q68DN1	CB016_HUMAN	655	T	S	Polymorphism	-
Q68DN1	CB016_HUMAN	1613	N	S	Polymorphism	-
Q68DN1	CB016_HUMAN	1559	H	Y	Polymorphism	-
Q68DN1	CB016_HUMAN	767	I	T	Polymorphism	-
Q68DQ2	CRBG3_HUMAN	2709	Y	C	Polymorphism	-
Q68DQ2	CRBG3_HUMAN	2874	N	H	Polymorphism	-
Q68DQ2	CRBG3_HUMAN	2381	R	H	Polymorphism	-
Q68DV7	RNF43_HUMAN	231	P	L	Polymorphism	-
Q68DV7	RNF43_HUMAN	221	R	Q	Polymorphism	-
Q68DV7	RNF43_HUMAN	47	I	V	Polymorphism	-
Q68DV7	RNF43_HUMAN	686	P	R	Polymorphism	-
Q68DV7	RNF43_HUMAN	117	R	H	Polymorphism	-
Q68DV7	RNF43_HUMAN	418	L	M	Polymorphism	-
Q68DV7	RNF43_HUMAN	343	R	H	Polymorphism	-
Q68DX3	FRPD2_HUMAN	351	G	R	Polymorphism	-
Q68DX3	FRPD2_HUMAN	534	K	E	Polymorphism	-
Q68DX3	FRPD2_HUMAN	727	R	W	Unclassified	A colorectal cancer sample
Q68DX3	FRPD2_HUMAN	239	T	M	Polymorphism	-
Q68DX3	FRPD2_HUMAN	1021	T	K	Polymorphism	-
Q68DX3	FRPD2_HUMAN	20	A	T	Polymorphism	-
Q68DY1	ZN626_HUMAN	68	N	H	Polymorphism	-
Q68DY1	ZN626_HUMAN	89	Q	E	Polymorphism	-
Q68DY1	ZN626_HUMAN	500	E	K	Polymorphism	-
Q68DY1	ZN626_HUMAN	65	M	T	Polymorphism	-
Q68DY1	ZN626_HUMAN	464	C	Y	Polymorphism	-
Q68DY1	ZN626_HUMAN	90	S	N	Polymorphism	-
Q68DY9	ZN772_HUMAN	218	M	L	Polymorphism	-
Q68DY9	ZN772_HUMAN	182	C	W	Polymorphism	-
Q68EA5	ZNF57_HUMAN	357	T	M	Polymorphism	-
Q68EA5	ZNF57_HUMAN	223	T	N	Polymorphism	-
Q68EA5	ZNF57_HUMAN	230	R	W	Polymorphism	-
Q68G75	LEMD1_HUMAN	25	P	S	Polymorphism	-
Q68J44	DUPD1_HUMAN	137	S	R	Polymorphism	-
Q68J44	DUPD1_HUMAN	66	D	N	Polymorphism	-
Q693B1	KCD11_HUMAN	22	G	S	Polymorphism	-
Q695T7	S6A19_HUMAN	173	D	N	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	242	L	P	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	240	R	Q	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	69	A	T	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	66	G	R	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	93	G	R	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	405	E	K	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	579	P	L	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	57	R	C	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	501	E	K	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	284	G	R	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	265	P	L	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	517	D	G	Disease	Hartnup disorder (HND) [MIM:234500]
Q695T7	S6A19_HUMAN	252	V	I	Polymorphism	-
Q695T7	S6A19_HUMAN	328	R	C	Disease	Hartnup disorder (HND) [MIM:234500]
Q69YH5	CDCA2_HUMAN	884	R	S	Polymorphism	-
Q69YH5	CDCA2_HUMAN	717	V	I	Polymorphism	-
Q69YN2	C19L1_HUMAN	523	R	H	Polymorphism	-
Q69YN2	C19L1_HUMAN	160	C	Y	Polymorphism	-
Q69YN2	C19L1_HUMAN	259	P	L	Polymorphism	-
Q69YN2	C19L1_HUMAN	526	R	Q	Polymorphism	-
Q69YN4	VIR_HUMAN	753	I	V	Polymorphism	-
Q69YQ0	CYTSA_HUMAN	397	T	P	Disease	Opitz GBBB syndrome 2 (GBBB2) [MIM:145410]
Q69YQ0	CYTSA_HUMAN	415	Q	P	Disease	Facial clefting, oblique, 1 (OBLFC1) [MIM:600251]
Q69YQ0	CYTSA_HUMAN	190	T	M	Polymorphism	-
Q69YQ0	CYTSA_HUMAN	712	S	F	Polymorphism	-
Q69YQ0	CYTSA_HUMAN	301	D	G	Polymorphism	-
Q69YQ0	CYTSA_HUMAN	943	V	A	Polymorphism	-
Q69YQ0	CYTSA_HUMAN	420	E	D	Unclassified	Hypertelorism, Teebi type (TBHS) [MIM:145420]
Q69YQ0	CYTSA_HUMAN	1083	G	S	Disease	Opitz GBBB syndrome 2 (GBBB2) [MIM:145410]
Q69YQ0	CYTSA_HUMAN	717	T	A	Polymorphism	-
Q69YQ0	CYTSA_HUMAN	951	V	M	Polymorphism	-
Q69YU5	CL073_HUMAN	45	R	C	Polymorphism	-
Q6A162	K1C40_HUMAN	37	T	A	Polymorphism	-
Q6A162	K1C40_HUMAN	102	S	N	Polymorphism	-
Q6A162	K1C40_HUMAN	303	M	T	Polymorphism	-
Q6A162	K1C40_HUMAN	265	C	Y	Polymorphism	-
Q6A162	K1C40_HUMAN	235	R	H	Polymorphism	-
Q6A162	K1C40_HUMAN	153	T	M	Polymorphism	-
Q6A162	K1C40_HUMAN	406	S	L	Polymorphism	-
Q6A162	K1C40_HUMAN	286	E	D	Polymorphism	-
Q6A162	K1C40_HUMAN	85	F	S	Polymorphism	-
Q6A163	K1C39_HUMAN	383	L	M	Polymorphism	-
Q6A163	K1C39_HUMAN	456	R	Q	Polymorphism	-
Q6A163	K1C39_HUMAN	341	T	M	Polymorphism	-
Q6A555	TXND8_HUMAN	60	N	H	Polymorphism	-
Q6AHZ1	Z518A_HUMAN	946	N	H	Polymorphism	-
Q6AHZ1	Z518A_HUMAN	1328	R	Q	Polymorphism	-
Q6AI08	HEAT6_HUMAN	71	A	V	Polymorphism	-
Q6AI08	HEAT6_HUMAN	1006	S	L	Polymorphism	-
Q6AI14	SL9A4_HUMAN	116	G	S	Polymorphism	-
Q6AI14	SL9A4_HUMAN	581	I	V	Polymorphism	-
Q6AW86	Z324B_HUMAN	63	S	G	Polymorphism	-
Q6AWC2	WWC2_HUMAN	816	V	F	Polymorphism	-
Q6AWC2	WWC2_HUMAN	904	D	H	Polymorphism	-
Q6AWC2	WWC2_HUMAN	979	R	C	Polymorphism	-
Q6AWC2	WWC2_HUMAN	1189	A	T	Polymorphism	-
Q6AWC2	WWC2_HUMAN	773	A	S	Polymorphism	-
Q6AZY7	SCAR3_HUMAN	467	F	L	Polymorphism	-
Q6AZY7	SCAR3_HUMAN	130	R	Q	Polymorphism	-
Q6AZY7	SCAR3_HUMAN	551	P	S	Polymorphism	-
Q6AZY7	SCAR3_HUMAN	423	R	Q	Polymorphism	-
Q6AZY7	SCAR3_HUMAN	428	V	I	Polymorphism	-
Q6AZY7	SCAR3_HUMAN	325	M	T	Polymorphism	-
Q6AZZ1	TRI68_HUMAN	466	Y	S	Polymorphism	-
Q6AZZ1	TRI68_HUMAN	442	C	Y	Polymorphism	-
Q6AZZ1	TRI68_HUMAN	457	R	H	Polymorphism	-
Q6B0I6	KDM4D_HUMAN	355	S	R	Polymorphism	-
Q6B0I6	KDM4D_HUMAN	471	A	S	Polymorphism	-
Q6B0I6	KDM4D_HUMAN	408	R	Q	Polymorphism	-
Q6B8I1	DS13A_HUMAN	73	K	R	Polymorphism	-
Q6B9Z1	IGFL4_HUMAN	60	R	Q	Polymorphism	-
Q6B9Z1	IGFL4_HUMAN	25	L	P	Polymorphism	-
Q6BCY4	NB5R2_HUMAN	209	N	D	Polymorphism	-
Q6BCY4	NB5R2_HUMAN	15	E	A	Polymorphism	-
Q6BDI9	REP15_HUMAN	101	N	D	Polymorphism	-
Q6BDI9	REP15_HUMAN	206	E	D	Polymorphism	-
Q6BDS2	URFB1_HUMAN	454	Q	R	Polymorphism	-
Q6BDS2	URFB1_HUMAN	1098	M	T	Polymorphism	-
Q6BDS2	URFB1_HUMAN	984	Q	H	Polymorphism	-
Q6BDS2	URFB1_HUMAN	404	K	N	Polymorphism	-
Q6BDS2	URFB1_HUMAN	854	K	E	Polymorphism	-
Q6BEB4	SP5_HUMAN	75	A	T	Polymorphism	-
Q6DD87	ZN787_HUMAN	379	G	A	Polymorphism	-
Q6DD88	ATLA3_HUMAN	192	Y	C	Disease	Neuropathy, hereditary sensory, 1F (HSN1F) [MIM:615632]
Q6DHV5	C2D2B_HUMAN	800	N	D	Polymorphism	-
Q6DHV5	C2D2B_HUMAN	973	Y	H	Polymorphism	-
Q6DHV5	C2D2B_HUMAN	1058	Q	L	Polymorphism	-
Q6DJT9	PLAG1_HUMAN	458	P	T	Polymorphism	-
Q6DKI2	LEG9C_HUMAN	126	V	M	Polymorphism	-
Q6DKI7	PVRIG_HUMAN	81	N	D	Polymorphism	-
Q6DN12	MCTP2_HUMAN	695	A	V	Unclassified	-
Q6DN12	MCTP2_HUMAN	47	R	H	Unclassified	-
Q6DN12	MCTP2_HUMAN	877	A	T	Polymorphism	-
Q6DN12	MCTP2_HUMAN	46	R	H	Unclassified	-
Q6DN12	MCTP2_HUMAN	235	Y	C	Unclassified	-
Q6DN12	MCTP2_HUMAN	60	A	T	Unclassified	-
Q6DN12	MCTP2_HUMAN	203	G	D	Unclassified	-
Q6DN12	MCTP2_HUMAN	475	V	I	Unclassified	-
Q6DN14	MCTP1_HUMAN	612	R	K	Polymorphism	-
Q6DN72	FCRL6_HUMAN	427	S	G	Polymorphism	-
Q6DN90	IQEC1_HUMAN	882	V	I	Polymorphism	-
Q6DN90	IQEC1_HUMAN	640	P	S	Polymorphism	-
Q6DT37	MRCKG_HUMAN	168	P	L	Polymorphism	-
Q6DT37	MRCKG_HUMAN	362	T	P	Polymorphism	-
Q6DT37	MRCKG_HUMAN	280	S	F	Unclassified	A glioblastoma multiforme sample
Q6DT37	MRCKG_HUMAN	1135	Q	R	Polymorphism	-
Q6DT37	MRCKG_HUMAN	537	A	D	Polymorphism	-
Q6E0U4	DMKN_HUMAN	280	G	S	Polymorphism	-
Q6E0U4	DMKN_HUMAN	139	N	S	Polymorphism	-
Q6E0U4	DMKN_HUMAN	91	V	A	Polymorphism	-
Q6E0U4	DMKN_HUMAN	415	A	S	Polymorphism	-
Q6E0U4	DMKN_HUMAN	427	D	A	Polymorphism	-
Q6E0U4	DMKN_HUMAN	69	E	D	Polymorphism	-
Q6E0U4	DMKN_HUMAN	13	A	D	Unclassified	A colorectal cancer sample
Q6ECI4	ZN470_HUMAN	23	V	L	Polymorphism	-
Q6ECI4	ZN470_HUMAN	418	T	I	Polymorphism	-
Q6ECI4	ZN470_HUMAN	642	I	T	Polymorphism	-
Q6ECI4	ZN470_HUMAN	254	K	R	Polymorphism	-
Q6EEV4	GL1AD_HUMAN	127	A	P	Polymorphism	-
Q6EEV6	SUMO4_HUMAN	55	M	V	Polymorphism	-
Q6EMB2	TTLL5_HUMAN	203	E	D	Polymorphism	-
Q6EMB2	TTLL5_HUMAN	1231	P	T	Polymorphism	-
Q6EMB2	TTLL5_HUMAN	1267	F	S	Polymorphism	-
Q6EMB2	TTLL5_HUMAN	149	A	V	Polymorphism	-
Q6EMB2	TTLL5_HUMAN	1223	A	S	Polymorphism	-
Q6EMB2	TTLL5_HUMAN	543	E	K	Disease	Cone-rod dystrophy 19 (CORD19) [MIM:615860]
Q6EMB2	TTLL5_HUMAN	592	A	T	Polymorphism	-
Q6EMK4	VASN_HUMAN	384	E	A	Polymorphism	-
Q6F5E8	CARL2_HUMAN	639	L	H	Disease	Immunodeficiency 58 (IMD58) [MIM:618131]
Q6F5E8	CARL2_HUMAN	525	L	Q	Disease	Immunodeficiency 58 (IMD58) [MIM:618131]
Q6F5E8	CARL2_HUMAN	372	L	R	Disease	Immunodeficiency 58 (IMD58) [MIM:618131]
Q6F5E8	CARL2_HUMAN	50	R	T	Disease	Immunodeficiency 58 (IMD58) [MIM:618131]
Q6FHJ7	SFRP4_HUMAN	340	R	K	Polymorphism	-
Q6FHJ7	SFRP4_HUMAN	320	P	T	Polymorphism	-
Q6FI81	CPIN1_HUMAN	52	Q	E	Polymorphism	-
Q6FI81	CPIN1_HUMAN	34	A	E	Polymorphism	-
Q6GMV1	ALG1L_HUMAN	184	G	S	Polymorphism	-
Q6GMV1	ALG1L_HUMAN	159	I	T	Polymorphism	-
Q6GMV1	ALG1L_HUMAN	135	N	D	Polymorphism	-
Q6GMV3	PTRD1_HUMAN	53	H	Y	Unclassified	-
Q6GMV3	PTRD1_HUMAN	52	C	Y	Unclassified	-
Q6GPH4	XAF1_HUMAN	219	R	I	Polymorphism	-
Q6GPH4	XAF1_HUMAN	188	E	K	Polymorphism	-
Q6GPH4	XAF1_HUMAN	85	E	G	Polymorphism	-
Q6GPH4	XAF1_HUMAN	132	R	H	Polymorphism	-
Q6GPH6	IPIL1_HUMAN	463	T	M	Polymorphism	-
Q6GPH6	IPIL1_HUMAN	428	S	C	Polymorphism	-
Q6GPH6	IPIL1_HUMAN	280	G	R	Polymorphism	-
Q6GPI1	CTRB2_HUMAN	250	A	T	Polymorphism	-
Q6GTS8	P20D1_HUMAN	149	I	V	Polymorphism	-
Q6GTS8	P20D1_HUMAN	237	I	T	Polymorphism	-
Q6GTS8	P20D1_HUMAN	258	S	C	Polymorphism	-
Q6GTS8	P20D1_HUMAN	346	G	R	Polymorphism	-
Q6GTS8	P20D1_HUMAN	153	R	W	Polymorphism	-
Q6GTS8	P20D1_HUMAN	380	I	T	Polymorphism	-
Q6GTS8	P20D1_HUMAN	33	H	Y	Polymorphism	-
Q6GTX8	LAIR1_HUMAN	63	E	D	Polymorphism	-
Q6GV28	TM225_HUMAN	196	C	R	Polymorphism	-
Q6GV28	TM225_HUMAN	134	N	S	Polymorphism	-
Q6GYQ0	RGPA1_HUMAN	931	T	A	Polymorphism	-
Q6H3X3	ULBP5_HUMAN	70	T	R	Polymorphism	-
Q6H8Q1	ABLM2_HUMAN	274	K	M	Unclassified	A pancreatic ductal adenocarcinoma sample
Q6H8Q1	ABLM2_HUMAN	227	G	R	Unclassified	A pancreatic ductal adenocarcinoma sample
Q6H9L7	ISM2_HUMAN	94	A	T	Polymorphism	-
Q6H9L7	ISM2_HUMAN	133	P	A	Polymorphism	-
Q6HA08	ASTL_HUMAN	204	R	H	Polymorphism	-
Q6HA08	ASTL_HUMAN	222	Q	R	Polymorphism	-
Q6HA08	ASTL_HUMAN	277	K	Q	Polymorphism	-
Q6IA17	SIGIR_HUMAN	312	Q	R	Polymorphism	-
Q6IA17	SIGIR_HUMAN	115	P	R	Polymorphism	-
Q6IA17	SIGIR_HUMAN	80	S	Y	Polymorphism	-
Q6IA69	NADE_HUMAN	704	G	S	Polymorphism	-
Q6IA69	NADE_HUMAN	591	M	I	Polymorphism	-
Q6IA69	NADE_HUMAN	74	V	L	Polymorphism	-
Q6IA69	NADE_HUMAN	204	Q	H	Polymorphism	-
Q6IA69	NADE_HUMAN	297	P	L	Polymorphism	-
Q6IA86	ELP2_HUMAN	795	E	G	Polymorphism	-
Q6IA86	ELP2_HUMAN	462	R	W	Unclassified	Mental retardation, autosomal recessive 58 (MRT58) [MIM:617270]
Q6IA86	ELP2_HUMAN	815	T	P	Polymorphism	-
Q6IA86	ELP2_HUMAN	541	I	T	Polymorphism	-
Q6IA86	ELP2_HUMAN	128	T	P	Polymorphism	-
Q6IA86	ELP2_HUMAN	806	H	P	Polymorphism	-
Q6IA86	ELP2_HUMAN	305	V	M	Polymorphism	-
Q6IA86	ELP2_HUMAN	543	T	P	Polymorphism	-
Q6IA86	ELP2_HUMAN	206	H	R	Unclassified	Mental retardation, autosomal recessive 58 (MRT58) [MIM:617270]
Q6IA86	ELP2_HUMAN	359	H	R	Polymorphism	-
Q6IAA8	LTOR1_HUMAN	73	S	L	Polymorphism	-
Q6IB77	GLYAT_HUMAN	17	S	T	Polymorphism	-
Q6IB77	GLYAT_HUMAN	156	N	S	Polymorphism	-
Q6IBS0	TWF2_HUMAN	72	R	C	Polymorphism	-
Q6IBS0	TWF2_HUMAN	76	Q	R	Polymorphism	-
Q6IBS0	TWF2_HUMAN	103	A	T	Unclassified	A lung neuroendocrine carcinoma sample
Q6IC83	CV042_HUMAN	73	L	P	Polymorphism	-
Q6IC98	GRAM4_HUMAN	159	S	I	Polymorphism	-
Q6ICB4	SESQ2_HUMAN	188	A	G	Polymorphism	-
Q6ICG8	WBP2L_HUMAN	121	D	G	Polymorphism	-
Q6ICG8	WBP2L_HUMAN	170	C	F	Polymorphism	-
Q6ICG8	WBP2L_HUMAN	5	Q	E	Polymorphism	-
Q6ICG8	WBP2L_HUMAN	285	Q	H	Polymorphism	-
Q6ICH7	ASPH2_HUMAN	235	N	S	Polymorphism	-
Q6ICL3	TNG2_HUMAN	125	D	N	Polymorphism	-
Q6ICL3	TNG2_HUMAN	200	E	K	Polymorphism	-
Q6ICL3	TNG2_HUMAN	245	D	E	Polymorphism	-
Q6ICL3	TNG2_HUMAN	154	G	R	Disease	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) [MIM:616878]
Q6IE36	OVOS2_HUMAN	587	L	V	Polymorphism	-
Q6IE36	OVOS2_HUMAN	211	T	M	Polymorphism	-
Q6IE36	OVOS2_HUMAN	1328	V	A	Polymorphism	-
Q6IE36	OVOS2_HUMAN	789	S	L	Polymorphism	-
Q6IE81	JADE1_HUMAN	662	N	S	Polymorphism	-
Q6IEE7	T132E_HUMAN	510	R	Q	Disease	-
Q6IEE8	SN12L_HUMAN	430	C	Y	Polymorphism	-
Q6IEE8	SN12L_HUMAN	518	Y	S	Polymorphism	-
Q6IEE8	SN12L_HUMAN	275	L	S	Polymorphism	-
Q6IEE8	SN12L_HUMAN	373	A	G	Polymorphism	-
Q6IEG0	SNR48_HUMAN	45	P	L	Polymorphism	-
Q6IEG0	SNR48_HUMAN	281	R	Q	Polymorphism	-
Q6IEU7	OR5MA_HUMAN	69	V	L	Polymorphism	-
Q6IEU7	OR5MA_HUMAN	313	I	T	Polymorphism	-
Q6IEV9	OR4CB_HUMAN	277	T	P	Polymorphism	-
Q6IEV9	OR4CB_HUMAN	15	L	I	Polymorphism	-
Q6IEV9	OR4CB_HUMAN	8	P	T	Polymorphism	-
Q6IEZ7	OR2T5_HUMAN	13	K	R	Polymorphism	-
Q6IF42	OR2A2_HUMAN	280	F	L	Polymorphism	-
Q6IF42	OR2A2_HUMAN	5	Q	K	Polymorphism	-
Q6IF42	OR2A2_HUMAN	210	L	P	Polymorphism	-
Q6IF63	O52W1_HUMAN	266	T	A	Polymorphism	-
Q6IF63	O52W1_HUMAN	254	L	Q	Polymorphism	-
Q6IF63	O52W1_HUMAN	239	H	R	Polymorphism	-
Q6IF82	O4A47_HUMAN	192	A	D	Polymorphism	-
Q6IF82	O4A47_HUMAN	145	V	M	Polymorphism	-
Q6IF82	O4A47_HUMAN	104	I	L	Polymorphism	-
Q6IF82	O4A47_HUMAN	82	G	D	Polymorphism	-
Q6IF99	O10K2_HUMAN	208	A	T	Polymorphism	-
Q6IFH4	OR6B2_HUMAN	179	C	R	Polymorphism	-
Q6IFH4	OR6B2_HUMAN	227	R	C	Polymorphism	-
Q6IFN5	O7E24_HUMAN	193	S	F	Polymorphism	-
Q6IFN5	O7E24_HUMAN	242	P	S	Polymorphism	-
Q6IMI4	ST6B1_HUMAN	150	L	F	Polymorphism	-
Q6IMI4	ST6B1_HUMAN	296	K	R	Polymorphism	-
Q6IMI4	ST6B1_HUMAN	61	A	T	Polymorphism	-
Q6IMI4	ST6B1_HUMAN	75	V	D	Polymorphism	-
Q6IMI4	ST6B1_HUMAN	88	K	E	Polymorphism	-
Q6IMI4	ST6B1_HUMAN	167	E	V	Polymorphism	-
Q6IMI4	ST6B1_HUMAN	181	R	S	Polymorphism	-
Q6IMI6	ST1C3_HUMAN	88	A	T	Polymorphism	-
Q6IMI6	ST1C3_HUMAN	148	Y	C	Polymorphism	-
Q6IMI6	ST1C3_HUMAN	179	G	R	Polymorphism	-
Q6IMI6	ST1C3_HUMAN	194	M	T	Polymorphism	-
Q6IMN6	CAPR2_HUMAN	237	K	R	Polymorphism	-
Q6IMN6	CAPR2_HUMAN	519	M	V	Polymorphism	-
Q6IMN6	CAPR2_HUMAN	655	S	L	Polymorphism	-
Q6IMN6	CAPR2_HUMAN	114	P	S	Polymorphism	-
Q6IN84	MRM1_HUMAN	98	P	S	Polymorphism	-
Q6IPM2	IQCE_HUMAN	546	A	V	Polymorphism	-
Q6IPM2	IQCE_HUMAN	666	L	V	Polymorphism	-
Q6IPM2	IQCE_HUMAN	690	T	M	Polymorphism	-
Q6IPM2	IQCE_HUMAN	101	H	N	Polymorphism	-
Q6IPM2	IQCE_HUMAN	596	T	A	Polymorphism	-
Q6IPM2	IQCE_HUMAN	587	R	H	Polymorphism	-
Q6IPR3	TYW3_HUMAN	121	M	V	Polymorphism	-
Q6IPR3	TYW3_HUMAN	110	R	Q	Polymorphism	-
Q6IPT2	F71E1_HUMAN	206	S	I	Polymorphism	-
Q6IPT4	NB5R5_HUMAN	47	R	K	Polymorphism	-
Q6IQ16	SPOPL_HUMAN	45	R	Q	Polymorphism	-
Q6IQ19	CCSAP_HUMAN	123	A	V	Polymorphism	-
Q6IQ20	NAPEP_HUMAN	152	S	A	Polymorphism	-
Q6IQ20	NAPEP_HUMAN	389	D	N	Polymorphism	-
Q6IQ23	PKHA7_HUMAN	248	A	V	Polymorphism	-
Q6IQ23	PKHA7_HUMAN	241	L	I	Polymorphism	-
Q6IQ23	PKHA7_HUMAN	279	Q	R	Polymorphism	-
Q6IQ23	PKHA7_HUMAN	689	S	R	Polymorphism	-
Q6IQ23	PKHA7_HUMAN	693	V	I	Polymorphism	-
Q6IQ26	DEN5A_HUMAN	224	E	Q	Polymorphism	-
Q6IQ26	DEN5A_HUMAN	541	D	G	Unclassified	Epileptic encephalopathy, early infantile, 49 (EIEE49) [MIM:617281]
Q6IQ49	SDE2_HUMAN	312	M	I	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	500	R	P	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	1062	T	I	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	440	V	M	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	724	G	E	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	1110	R	H	Unclassified	-
Q6IQ55	TTBK2_HUMAN	313	T	A	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	367	K	I	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	842	E	G	Unclassified	-
Q6IQ55	TTBK2_HUMAN	1241	K	T	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	1097	V	A	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	1084	T	M	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	1122	P	R	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	635	D	G	Unclassified	A lung small cell carcinoma sample
Q6IQ55	TTBK2_HUMAN	8	L	P	Polymorphism	-
Q6IQ55	TTBK2_HUMAN	120	R	Q	Polymorphism	-
Q6ISB3	GRHL2_HUMAN	482	I	K	Disease	Ectodermal dysplasia/short stature syndrome (ECTDS) [MIM:616029]
Q6ISB3	GRHL2_HUMAN	398	Y	H	Disease	Ectodermal dysplasia/short stature syndrome (ECTDS) [MIM:616029]
Q6ISB3	GRHL2_HUMAN	415	V	I	Polymorphism	-
Q6ISS4	LAIR2_HUMAN	87	H	R	Polymorphism	-
Q6ISS4	LAIR2_HUMAN	78	G	S	Polymorphism	-
Q6ISS4	LAIR2_HUMAN	115	F	Y	Polymorphism	-
Q6ISU1	PTCRA_HUMAN	183	A	T	Polymorphism	-
Q6ISU1	PTCRA_HUMAN	106	V	I	Polymorphism	-
Q6IV72	ZN425_HUMAN	166	D	V	Polymorphism	-
Q6IWH7	ANO7_HUMAN	912	E	K	Polymorphism	-
Q6IWH7	ANO7_HUMAN	67	V	I	Polymorphism	-
Q6J4K2	NCLX_HUMAN	222	R	C	Polymorphism	-
Q6J4K2	NCLX_HUMAN	358	L	F	Polymorphism	-
Q6J9G0	STYK1_HUMAN	204	S	G	Polymorphism	-
Q6J9G0	STYK1_HUMAN	237	L	S	Polymorphism	-
Q6J9G0	STYK1_HUMAN	71	R	G	Polymorphism	-
Q6J9G0	STYK1_HUMAN	400	V	L	Polymorphism	-
Q6J9G0	STYK1_HUMAN	379	R	H	Polymorphism	-
Q6J9G0	STYK1_HUMAN	210	R	W	Polymorphism	-
Q6J9G0	STYK1_HUMAN	395	V	I	Unclassified	A glioblastoma multiforme sample
Q6JBY9	CPZIP_HUMAN	384	Q	R	Polymorphism	-
Q6JEL2	KLH10_HUMAN	216	Q	P	Disease	Spermatogenic failure 11 (SPGF11) [MIM:615081]
Q6JEL2	KLH10_HUMAN	313	A	T	Disease	Spermatogenic failure 11 (SPGF11) [MIM:615081]
Q6JQN1	ACD10_HUMAN	200	Q	R	Polymorphism	-
Q6JQN1	ACD10_HUMAN	880	A	V	Polymorphism	-
Q6JQN1	ACD10_HUMAN	463	D	N	Polymorphism	-
Q6JQN1	ACD10_HUMAN	216	T	P	Polymorphism	-
Q6KB66	K2C80_HUMAN	238	V	I	Polymorphism	-
Q6KC79	NIPBL_HUMAN	1647	E	K	Unclassified	A breast cancer sample
Q6KC79	NIPBL_HUMAN	2390	A	T	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	179	A	T	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	674	N	S	Polymorphism	-
Q6KC79	NIPBL_HUMAN	1312	L	P	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	1722	N	H	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2312	G	V	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	70	N	I	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	15	G	R	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	868	R	Q	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2091	C	F	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2381	G	A	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2298	R	H	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	1348	L	R	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	192	P	L	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2150	L	P	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	1206	I	V	Polymorphism	-
Q6KC79	NIPBL_HUMAN	111	S	T	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	73	S	L	Unclassified	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	1207	E	K	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2090	S	I	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	29	P	Q	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2081	G	A	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	1856	R	T	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	179	A	S	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	135	S	N	Polymorphism	-
Q6KC79	NIPBL_HUMAN	384	N	S	Polymorphism	-
Q6KC79	NIPBL_HUMAN	1441	V	L	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	1637	I	L	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	1311	C	R	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	1343	H	P	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2298	R	C	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	357	K	N	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	1625	V	F	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2430	Y	C	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	246	D	G	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	1789	R	L	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	261	S	A	Polymorphism	-
Q6KC79	NIPBL_HUMAN	1803	D	V	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	254	L	V	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2433	D	N	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2440	Y	H	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	2312	G	R	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	351	P	T	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KC79	NIPBL_HUMAN	1246	A	G	Disease	Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
Q6KF10	GDF6_HUMAN	216	D	G	Disease	Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]
Q6KF10	GDF6_HUMAN	424	K	R	Disease	Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]
Q6KF10	GDF6_HUMAN	110	K	E	Polymorphism	-
Q6KF10	GDF6_HUMAN	249	A	E	Disease	Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]
Q6KF10	GDF6_HUMAN	253	Q	L	Disease	Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]
Q6KF10	GDF6_HUMAN	292	E	D	Disease	Leber congenital amaurosis 17 (LCA17) [MIM:615360]
Q6KF10	GDF6_HUMAN	249	A	E	Disease	Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]
Q6KF10	GDF6_HUMAN	57	D	H	Disease	Leber congenital amaurosis 17 (LCA17) [MIM:615360]
Q6KF10	GDF6_HUMAN	249	A	E	Disease	Leber congenital amaurosis 17 (LCA17) [MIM:615360]
Q6KF10	GDF6_HUMAN	289	L	P	Disease	Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]
Q6KF10	GDF6_HUMAN	119	Q	R	Disease	Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]
Q6KF10	GDF6_HUMAN	429	S	R	Unclassified	Multiple synostoses syndrome 4 (SYNS4) [MIM:617898]
Q6KF10	GDF6_HUMAN	199	A	T	Disease	Leber congenital amaurosis 17 (LCA17) [MIM:615360]
Q6KF10	GDF6_HUMAN	327	P	H	Disease	Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]
Q6KF10	GDF6_HUMAN	42	G	V	Disease	Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]
Q6KF10	GDF6_HUMAN	444	Y	N	Disease	Multiple synostoses syndrome 4 (SYNS4) [MIM:617898]
Q6L8G9	KRA56_HUMAN	6	C	F	Polymorphism	-
Q6L8H2	KRA53_HUMAN	83	S	C	Polymorphism	-
Q6L8H2	KRA53_HUMAN	27	G	S	Polymorphism	-
Q6L8H2	KRA53_HUMAN	73	C	S	Polymorphism	-
Q6L8H2	KRA53_HUMAN	28	Y	C	Polymorphism	-
Q6L8H2	KRA53_HUMAN	76	G	V	Polymorphism	-
Q6L8Q7	PDE12_HUMAN	23	R	W	Polymorphism	-
Q6L9W6	B4GN3_HUMAN	59	G	S	Polymorphism	-
Q6L9W6	B4GN3_HUMAN	411	K	R	Polymorphism	-
Q6L9W6	B4GN3_HUMAN	265	R	Q	Polymorphism	-
Q6L9W6	B4GN3_HUMAN	768	R	Q	Polymorphism	-
Q6L9W6	B4GN3_HUMAN	992	R	H	Polymorphism	-
Q6MZM0	HPHL1_HUMAN	251	N	D	Polymorphism	-
Q6MZM0	HPHL1_HUMAN	381	R	C	Polymorphism	-
Q6MZM9	PRR27_HUMAN	91	R	C	Polymorphism	-
Q6MZM9	PRR27_HUMAN	44	I	L	Polymorphism	-
Q6MZN7	HCP5_HUMAN	82	W	C	Polymorphism	-
Q6MZN7	HCP5_HUMAN	123	H	R	Polymorphism	-
Q6MZN7	HCP5_HUMAN	112	V	G	Polymorphism	-
Q6MZN7	HCP5_HUMAN	32	W	R	Polymorphism	-
Q6MZN7	HCP5_HUMAN	93	G	E	Polymorphism	-
Q6MZQ0	PRR5L_HUMAN	41	A	T	Polymorphism	-
Q6MZQ0	PRR5L_HUMAN	330	P	S	Polymorphism	-
Q6MZT1	R7BP_HUMAN	255	I	V	Polymorphism	-
Q6MZW2	FSTL4_HUMAN	757	T	M	Polymorphism	-
Q6MZW2	FSTL4_HUMAN	158	R	H	Polymorphism	-
Q6MZZ7	CAN13_HUMAN	596	I	T	Polymorphism	-
Q6MZZ7	CAN13_HUMAN	249	H	Y	Polymorphism	-
Q6MZZ7	CAN13_HUMAN	280	A	T	Polymorphism	-
Q6N021	TET2_HUMAN	1757	H	D	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	1417	V	F	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	1881	H	Q	Unclassified	-
Q6N021	TET2_HUMAN	1723	P	S	Polymorphism	-
Q6N021	TET2_HUMAN	1974	R	M	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	1398	L	R	Unclassified	-
Q6N021	TET2_HUMAN	34	L	F	Polymorphism	-
Q6N021	TET2_HUMAN	308	A	T	Unclassified	Chronic myelomonocytic leukemia
Q6N021	TET2_HUMAN	1762	I	V	Polymorphism	-
Q6N021	TET2_HUMAN	1875	C	R	Unclassified	-
Q6N021	TET2_HUMAN	1718	V	L	Polymorphism	-
Q6N021	TET2_HUMAN	1896	R	S	Unclassified	-
Q6N021	TET2_HUMAN	1721	L	W	Polymorphism	-
Q6N021	TET2_HUMAN	949	H	R	Polymorphism	-
Q6N021	TET2_HUMAN	460	S	F	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	399	P	L	Unclassified	-
Q6N021	TET2_HUMAN	1873	I	T	Unclassified	Chronic myelomonocytic leukemia
Q6N021	TET2_HUMAN	924	H	R	Polymorphism	-
Q6N021	TET2_HUMAN	1828	Q	L	Unclassified	-
Q6N021	TET2_HUMAN	1135	C	Y	Polymorphism	-
Q6N021	TET2_HUMAN	1701	M	I	Polymorphism	-
Q6N021	TET2_HUMAN	1214	R	W	Polymorphism	-
Q6N021	TET2_HUMAN	1242	D	R	Unclassified	-
Q6N021	TET2_HUMAN	1204	S	C	Unclassified	-
Q6N021	TET2_HUMAN	1778	H	R	Polymorphism	-
Q6N021	TET2_HUMAN	1302	R	G	Unclassified	Chronic myelomonocytic leukemia samples
Q6N021	TET2_HUMAN	1367	P	S	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	312	N	S	Unclassified	An acute myeloid leukemia sample
Q6N021	TET2_HUMAN	1299	K	E	Unclassified	-
Q6N021	TET2_HUMAN	2000	R	K	Polymorphism	-
Q6N021	TET2_HUMAN	174	P	H	Polymorphism	-
Q6N021	TET2_HUMAN	1926	R	H	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	1869	G	W	Polymorphism	-
Q6N021	TET2_HUMAN	1242	D	V	Unclassified	-
Q6N021	TET2_HUMAN	1261	R	H	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	941	P	S	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	1900	V	A	Polymorphism	-
Q6N021	TET2_HUMAN	1962	P	L	Polymorphism	-
Q6N021	TET2_HUMAN	145	S	N	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	1175	I	V	Unclassified	-
Q6N021	TET2_HUMAN	1396	C	W	Unclassified	-
Q6N021	TET2_HUMAN	1287	F	L	Unclassified	-
Q6N021	TET2_HUMAN	666	D	G	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	1898	S	F	Unclassified	A secondary acute myeloid leukemia sample
Q6N021	TET2_HUMAN	1941	P	S	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	1919	A	V	Polymorphism	-
Q6N021	TET2_HUMAN	429	G	R	Polymorphism	-
Q6N021	TET2_HUMAN	1261	R	L	Unclassified	-
Q6N021	TET2_HUMAN	1167	R	T	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	1966	R	H	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	867	Y	H	Polymorphism	-
Q6N021	TET2_HUMAN	1245	Y	S	Unclassified	-
Q6N021	TET2_HUMAN	29	P	R	Polymorphism	-
Q6N021	TET2_HUMAN	1896	R	M	Unclassified	A primary acute myeloid leukemia sample
Q6N021	TET2_HUMAN	1291	W	R	Unclassified	-
Q6N021	TET2_HUMAN	1318	E	G	Unclassified	Chronic myelomonocytic leukemia samples
Q6N021	TET2_HUMAN	355	G	D	Polymorphism	-
Q6N021	TET2_HUMAN	1913	G	D	Unclassified	-
Q6N021	TET2_HUMAN	1073	E	V	Polymorphism	-
Q6N021	TET2_HUMAN	817	S	T	Polymorphism	-
Q6N021	TET2_HUMAN	218	V	M	Polymorphism	-
Q6N021	TET2_HUMAN	1084	Q	P	Polymorphism	-
Q6N021	TET2_HUMAN	1261	R	C	Polymorphism	-
Q6N021	TET2_HUMAN	1299	K	N	Unclassified	Chronic myelomonocytic leukemia samples
Q6N021	TET2_HUMAN	1872	L	P	Unclassified	-
Q6N021	TET2_HUMAN	1881	H	R	Polymorphism	-
Q6N021	TET2_HUMAN	308	A	T	Unclassified	Acute myeloid leukemia samples
Q6N021	TET2_HUMAN	912	A	G	Polymorphism	-
Q6N021	TET2_HUMAN	1811	C	R	Unclassified	A chronic myelomonocytic leukemia sample
Q6N021	TET2_HUMAN	123	R	H	Polymorphism	-
Q6N021	TET2_HUMAN	363	P	L	Polymorphism	-
Q6N022	TEN4_HUMAN	1535	K	Q	Unclassified	Tremor, hereditary essential 5 (ETM5) [MIM:616736]
Q6N022	TEN4_HUMAN	1632	R	H	Unclassified	Tremor, hereditary essential 5 (ETM5) [MIM:616736]
Q6N022	TEN4_HUMAN	506	E	Q	Polymorphism	-
Q6N022	TEN4_HUMAN	396	V	I	Polymorphism	-
Q6N022	TEN4_HUMAN	1128	V	M	Unclassified	Tremor, hereditary essential 5 (ETM5) [MIM:616736]
Q6N022	TEN4_HUMAN	518	R	Q	Unclassified	Tremor, hereditary essential 5 (ETM5) [MIM:616736]
Q6N022	TEN4_HUMAN	1442	A	T	Disease	Tremor, hereditary essential 5 (ETM5) [MIM:616736]
Q6N022	TEN4_HUMAN	1763	G	R	Unclassified	Tremor, hereditary essential 5 (ETM5) [MIM:616736]
Q6N022	TEN4_HUMAN	1138	V	M	Disease	Tremor, hereditary essential 5 (ETM5) [MIM:616736]
Q6N022	TEN4_HUMAN	2451	M	I	Unclassified	Tremor, hereditary essential 5 (ETM5) [MIM:616736]
Q6N022	TEN4_HUMAN	474	A	D	Unclassified	Tremor, hereditary essential 5 (ETM5) [MIM:616736]
Q6N022	TEN4_HUMAN	53	R	P	Unclassified	Tremor, hereditary essential 5 (ETM5) [MIM:616736]
Q6N022	TEN4_HUMAN	14	R	Q	Polymorphism	-
Q6N022	TEN4_HUMAN	1367	T	N	Disease	Tremor, hereditary essential 5 (ETM5) [MIM:616736]
Q6N043	Z280D_HUMAN	778	A	V	Polymorphism	-
Q6N043	Z280D_HUMAN	781	K	I	Polymorphism	-
Q6N043	Z280D_HUMAN	785	G	A	Polymorphism	-
Q6N043	Z280D_HUMAN	568	V	I	Polymorphism	-
Q6N069	NAA16_HUMAN	344	E	G	Polymorphism	-
Q6NS38	ALKB2_HUMAN	203	R	H	Polymorphism	-
Q6NSI1	AR26L_HUMAN	265	K	T	Polymorphism	-
Q6NSI4	RADX_HUMAN	593	I	M	Polymorphism	-
Q6NSJ0	MYORG_HUMAN	53	D	E	Polymorphism	-
Q6NSJ0	MYORG_HUMAN	113	L	R	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	611	R	W	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	4	N	I	Polymorphism	-
Q6NSJ0	MYORG_HUMAN	199	R	S	Polymorphism	-
Q6NSJ0	MYORG_HUMAN	261	R	L	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	656	I	T	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	441	R	G	Disease	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	249	W	C	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	373	A	D	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	476	T	N	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	385	F	Y	Polymorphism	-
Q6NSJ0	MYORG_HUMAN	64	G	E	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	232	S	L	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	229	W	C	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	35	M	V	Disease	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	622	L	P	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	660	L	Q	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ0	MYORG_HUMAN	434	D	H	Unclassified	Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
Q6NSJ2	PHLB3_HUMAN	239	Q	R	Polymorphism	-
Q6NSJ5	LRC8E_HUMAN	160	P	L	Polymorphism	-
Q6NSJ5	LRC8E_HUMAN	190	M	T	Polymorphism	-
Q6NSJ5	LRC8E_HUMAN	181	E	G	Polymorphism	-
Q6NSJ5	LRC8E_HUMAN	433	V	I	Polymorphism	-
Q6NSW7	NANP8_HUMAN	218	N	S	Polymorphism	-
Q6NSW7	NANP8_HUMAN	208	N	S	Polymorphism	-
Q6NSW7	NANP8_HUMAN	37	S	P	Polymorphism	-
Q6NSW7	NANP8_HUMAN	107	L	P	Polymorphism	-
Q6NSW7	NANP8_HUMAN	13	C	R	Polymorphism	-
Q6NSW7	NANP8_HUMAN	127	E	G	Polymorphism	-
Q6NSW7	NANP8_HUMAN	16	E	A	Polymorphism	-
Q6NSW7	NANP8_HUMAN	210	T	I	Polymorphism	-
Q6NSW7	NANP8_HUMAN	207	S	G	Polymorphism	-
Q6NSW7	NANP8_HUMAN	301	Q	R	Polymorphism	-
Q6NSW7	NANP8_HUMAN	262	D	G	Polymorphism	-
Q6NSW7	NANP8_HUMAN	146	Q	R	Polymorphism	-
Q6NSW7	NANP8_HUMAN	68	S	Y	Polymorphism	-
Q6NSW7	NANP8_HUMAN	96	Q	R	Polymorphism	-
Q6NSW7	NANP8_HUMAN	64	D	Y	Polymorphism	-
Q6NSX1	CCD70_HUMAN	126	R	C	Polymorphism	-
Q6NSX1	CCD70_HUMAN	206	I	V	Polymorphism	-
Q6NSZ9	ZSC25_HUMAN	325	P	A	Polymorphism	-
Q6NT16	S18B1_HUMAN	30	S	P	Polymorphism	-
Q6NT16	S18B1_HUMAN	204	V	I	Polymorphism	-
Q6NT16	S18B1_HUMAN	11	R	L	Polymorphism	-
Q6NT32	EST5A_HUMAN	261	E	K	Polymorphism	-
Q6NT32	EST5A_HUMAN	499	G	R	Polymorphism	-
Q6NT32	EST5A_HUMAN	537	D	E	Polymorphism	-
Q6NT32	EST5A_HUMAN	71	R	Q	Polymorphism	-
Q6NT32	EST5A_HUMAN	344	H	Q	Polymorphism	-
Q6NT55	CP4FN_HUMAN	372	R	W	Disease	Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]
Q6NT55	CP4FN_HUMAN	178	S	C	Polymorphism	-
Q6NT55	CP4FN_HUMAN	59	F	L	Disease	Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]
Q6NT55	CP4FN_HUMAN	243	R	H	Disease	Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]
Q6NT55	CP4FN_HUMAN	435	H	Y	Disease	Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]
Q6NT55	CP4FN_HUMAN	436	H	D	Disease	Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]
Q6NT55	CP4FN_HUMAN	505	K	Q	Polymorphism	-
Q6NT89	TRNP1_HUMAN	27	W	R	Polymorphism	-
Q6NTE8	MRNIP_HUMAN	97	Q	R	Polymorphism	-
Q6NTE8	MRNIP_HUMAN	42	Q	R	Polymorphism	-
Q6NTE8	MRNIP_HUMAN	154	R	G	Polymorphism	-
Q6NTE8	MRNIP_HUMAN	231	Q	R	Polymorphism	-
Q6NTF7	ABC3H_HUMAN	178	E	D	Polymorphism	-
Q6NTF7	ABC3H_HUMAN	105	G	R	Polymorphism	-
Q6NTF7	ABC3H_HUMAN	121	K	N	Polymorphism	-
Q6NTF7	ABC3H_HUMAN	121	K	E	Polymorphism	-
Q6NTF7	ABC3H_HUMAN	140	E	K	Polymorphism	-
Q6NTF7	ABC3H_HUMAN	18	R	L	Polymorphism	-
Q6NTF9	RHBD2_HUMAN	85	R	H	Polymorphism	-
Q6NUI1	C144L_HUMAN	82	G	D	Polymorphism	-
Q6NUI6	CHADL_HUMAN	710	Q	R	Polymorphism	-
Q6NUI6	CHADL_HUMAN	721	D	N	Polymorphism	-
Q6NUJ1	SAPL1_HUMAN	59	A	T	Polymorphism	-
Q6NUJ1	SAPL1_HUMAN	44	G	R	Polymorphism	-
Q6NUJ1	SAPL1_HUMAN	268	A	S	Polymorphism	-
Q6NUJ1	SAPL1_HUMAN	296	V	M	Polymorphism	-
Q6NUJ1	SAPL1_HUMAN	41	A	S	Polymorphism	-
Q6NUJ5	PWP2B_HUMAN	89	R	C	Polymorphism	-
Q6NUJ5	PWP2B_HUMAN	98	R	G	Polymorphism	-
Q6NUK1	SCMC1_HUMAN	217	R	C	Disease	Fontaine progeroid syndrome (FPS) [MIM:612289]
Q6NUK1	SCMC1_HUMAN	217	R	H	Disease	Fontaine progeroid syndrome (FPS) [MIM:612289]
Q6NUK4	REEP3_HUMAN	171	Q	R	Polymorphism	-
Q6NUM9	RETST_HUMAN	559	P	T	Polymorphism	-
Q6NUM9	RETST_HUMAN	536	G	R	Polymorphism	-
Q6NUM9	RETST_HUMAN	533	A	V	Polymorphism	-
Q6NUN0	ACSM5_HUMAN	65	R	Q	Polymorphism	-
Q6NUN0	ACSM5_HUMAN	159	Q	H	Polymorphism	-
Q6NUN0	ACSM5_HUMAN	533	T	M	Polymorphism	-
Q6NUN0	ACSM5_HUMAN	182	E	K	Polymorphism	-
Q6NUN0	ACSM5_HUMAN	352	P	R	Polymorphism	-
Q6NUN0	ACSM5_HUMAN	360	H	R	Polymorphism	-
Q6NUN0	ACSM5_HUMAN	217	M	V	Polymorphism	-
Q6NUN7	JHY_HUMAN	486	H	R	Polymorphism	-
Q6NUQ1	RINT1_HUMAN	668	F	S	Polymorphism	-
Q6NUQ1	RINT1_HUMAN	40	S	C	Polymorphism	-
Q6NUQ1	RINT1_HUMAN	759	P	L	Polymorphism	-
Q6NUQ4	TM214_HUMAN	351	V	M	Polymorphism	-
Q6NUS6	TECT3_HUMAN	95	T	P	Unclassified	-
Q6NUS6	TECT3_HUMAN	314	G	R	Disease	Joubert syndrome 18 (JBTS18) [MIM:614815]
Q6NUS8	UD3A1_HUMAN	121	C	G	Polymorphism	-
Q6NUT2	D19L2_HUMAN	41	A	V	Polymorphism	-
Q6NUT2	D19L2_HUMAN	51	S	A	Polymorphism	-
Q6NUT2	D19L2_HUMAN	37	M	V	Polymorphism	-
Q6NUT2	D19L2_HUMAN	757	V	I	Polymorphism	-
Q6NUT3	MFS12_HUMAN	395	G	S	Polymorphism	-
Q6NUT3	MFS12_HUMAN	182	Y	H	Polymorphism	-
Q6NUT3	MFS12_HUMAN	243	R	H	Polymorphism	-
Q6NUT3	MFS12_HUMAN	203	I	V	Polymorphism	-
Q6NUT3	MFS12_HUMAN	476	R	C	Polymorphism	-
Q6NV74	K121L_HUMAN	315	S	C	Polymorphism	-
Q6NV75	GP153_HUMAN	209	R	H	Polymorphism	-
Q6NVH7	SWAP1_HUMAN	171	D	G	Polymorphism	-
Q6NVU6	UFSP1_HUMAN	47	L	V	Polymorphism	-
Q6NVV3	NIPA3_HUMAN	324	I	V	Polymorphism	-
Q6NVV7	CDPF1_HUMAN	70	L	R	Polymorphism	-
Q6NVV7	CDPF1_HUMAN	5	V	A	Polymorphism	-
Q6NVY1	HIBCH_HUMAN	122	Y	C	Disease	3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620]
Q6NVY1	HIBCH_HUMAN	46	T	A	Polymorphism	-
Q6NW29	RWDD4_HUMAN	124	I	L	Polymorphism	-
Q6NW34	NEPRO_HUMAN	352	P	S	Polymorphism	-
Q6NW34	NEPRO_HUMAN	101	E	K	Polymorphism	-
Q6NW34	NEPRO_HUMAN	476	T	A	Polymorphism	-
Q6NW34	NEPRO_HUMAN	357	F	I	Polymorphism	-
Q6NW34	NEPRO_HUMAN	490	S	P	Polymorphism	-
Q6NX45	ZN774_HUMAN	147	V	I	Polymorphism	-
Q6NX45	ZN774_HUMAN	83	N	S	Polymorphism	-
Q6NX45	ZN774_HUMAN	65	P	L	Polymorphism	-
Q6NX49	ZN544_HUMAN	203	H	D	Polymorphism	-
Q6NX49	ZN544_HUMAN	700	Q	R	Polymorphism	-
Q6NXG1	ESRP1_HUMAN	196	Y	C	Polymorphism	-
Q6NXG1	ESRP1_HUMAN	259	L	V	Disease	Deafness, autosomal recessive, 109 (DFNB109) [MIM:618013]
Q6NXP0	EFC12_HUMAN	541	P	S	Polymorphism	-
Q6NXP0	EFC12_HUMAN	280	H	R	Polymorphism	-
Q6NXP0	EFC12_HUMAN	36	P	L	Polymorphism	-
Q6NXP0	EFC12_HUMAN	66	E	G	Polymorphism	-
Q6NXP0	EFC12_HUMAN	215	R	G	Polymorphism	-
Q6NXP2	F71F2_HUMAN	251	I	V	Polymorphism	-
Q6NXP2	F71F2_HUMAN	114	D	V	Polymorphism	-
Q6NXP2	F71F2_HUMAN	112	P	T	Polymorphism	-
Q6NXP2	F71F2_HUMAN	136	R	W	Polymorphism	-
Q6NXR0	IIGP5_HUMAN	135	D	N	Polymorphism	-
Q6NXR4	TTI2_HUMAN	436	I	N	Disease	Mental retardation, autosomal recessive 39 (MRT39) [MIM:615541]
Q6NXR4	TTI2_HUMAN	63	E	G	Polymorphism	-
Q6NXR4	TTI2_HUMAN	425	L	R	Polymorphism	-
Q6NXT2	H3C_HUMAN	39	H	R	Polymorphism	-
Q6NXT6	TAPT1_HUMAN	353	D	V	Disease	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) [MIM:616897]
Q6NXT6	TAPT1_HUMAN	522	N	S	Polymorphism	-
Q6NXT6	TAPT1_HUMAN	465	E	K	Polymorphism	-
Q6NY19	KANK3_HUMAN	485	A	T	Polymorphism	-
Q6NY19	KANK3_HUMAN	359	R	H	Polymorphism	-
Q6NY19	KANK3_HUMAN	288	D	Y	Polymorphism	-
Q6NYC8	PPR18_HUMAN	339	G	R	Polymorphism	-
Q6NYC8	PPR18_HUMAN	222	R	G	Polymorphism	-
Q6NYC8	PPR18_HUMAN	356	P	L	Polymorphism	-
Q6NZ36	FAP20_HUMAN	126	P	S	Polymorphism	-
Q6NZ63	STEAL_HUMAN	29	Q	R	Polymorphism	-
Q6NZ63	STEAL_HUMAN	210	I	T	Polymorphism	-
Q6NZ63	STEAL_HUMAN	7	I	V	Polymorphism	-
Q6NZ63	STEAL_HUMAN	166	R	M	Polymorphism	-
Q6NZ67	MZT2B_HUMAN	155	R	Q	Polymorphism	-
Q6NZ67	MZT2B_HUMAN	118	A	V	Polymorphism	-
Q6NZI2	CAVN1_HUMAN	14	P	T	Unclassified	A breast cancer sample
Q6NZI2	CAVN1_HUMAN	193	E	Q	Polymorphism	-
Q6NZY4	ZCHC8_HUMAN	672	P	A	Polymorphism	-
Q6P047	CH074_HUMAN	222	I	V	Polymorphism	-
Q6P047	CH074_HUMAN	15	L	F	Polymorphism	-
Q6P050	FXL22_HUMAN	115	V	L	Polymorphism	-
Q6P087	RUSD3_HUMAN	173	A	P	Polymorphism	-
Q6P087	RUSD3_HUMAN	181	A	P	Polymorphism	-
Q6P087	RUSD3_HUMAN	34	D	H	Polymorphism	-
Q6P093	ADCL2_HUMAN	186	A	S	Polymorphism	-
Q6P093	ADCL2_HUMAN	343	L	I	Polymorphism	-
Q6P0A1	F180B_HUMAN	186	A	T	Polymorphism	-
Q6P0N0	M18BP_HUMAN	851	E	Q	Polymorphism	-
Q6P0N0	M18BP_HUMAN	583	E	D	Polymorphism	-
Q6P0N0	M18BP_HUMAN	347	P	R	Polymorphism	-
Q6P0N0	M18BP_HUMAN	164	C	R	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	1551	D	G	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	275	K	E	Unclassified	An ovarian mucinous carcinoma sample
Q6P0Q8	MAST2_HUMAN	1463	A	T	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	991	R	L	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	655	G	A	Unclassified	A breast mucinous carcinoma sample
Q6P0Q8	MAST2_HUMAN	1673	K	R	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	1304	V	M	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	388	D	E	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	1703	G	E	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	1197	K	R	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	1246	R	L	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	659	I	M	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	69	L	F	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	1221	D	E	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	1468	G	A	Polymorphism	-
Q6P0Q8	MAST2_HUMAN	1608	T	I	Polymorphism	-
Q6P158	DHX57_HUMAN	410	S	F	Polymorphism	-
Q6P158	DHX57_HUMAN	433	S	G	Polymorphism	-
Q6P158	DHX57_HUMAN	587	N	S	Polymorphism	-
Q6P179	ERAP2_HUMAN	411	L	R	Polymorphism	-
Q6P179	ERAP2_HUMAN	214	P	L	Polymorphism	-
Q6P179	ERAP2_HUMAN	392	K	N	Polymorphism	-
Q6P179	ERAP2_HUMAN	669	L	Q	Polymorphism	-
Q6P1A2	MBOA5_HUMAN	63	F	L	Polymorphism	-
Q6P1A2	MBOA5_HUMAN	217	I	T	Polymorphism	-
Q6P1J6	PLB1_HUMAN	821	G	R	Polymorphism	-
Q6P1J6	PLB1_HUMAN	212	V	L	Polymorphism	-
Q6P1J6	PLB1_HUMAN	879	H	D	Polymorphism	-
Q6P1J6	PLB1_HUMAN	987	A	V	Polymorphism	-
Q6P1J6	PLB1_HUMAN	1318	A	V	Polymorphism	-
Q6P1J6	PLB1_HUMAN	708	M	V	Polymorphism	-
Q6P1J9	CDC73_HUMAN	292	R	K	Unclassified	-
Q6P1J9	CDC73_HUMAN	91	R	P	Unclassified	-
Q6P1J9	CDC73_HUMAN	2	A	S	Unclassified	-
Q6P1J9	CDC73_HUMAN	379	D	N	Disease	Hyperparathyroidism 2 with jaw tumors (HRPT2) [MIM:145001]
Q6P1J9	CDC73_HUMAN	272	N	S	Polymorphism	-
Q6P1J9	CDC73_HUMAN	64	L	P	Disease	Hyperparathyroidism 1 (HRPT1) [MIM:145000]
Q6P1J9	CDC73_HUMAN	59	S	F	Unclassified	-
Q6P1J9	CDC73_HUMAN	34	K	Q	Unclassified	-
Q6P1J9	CDC73_HUMAN	95	L	P	Unclassified	Hyperparathyroidism 1 (HRPT1) [MIM:145000]
Q6P1J9	CDC73_HUMAN	63	L	P	Unclassified	Hyperparathyroidism 1 (HRPT1) [MIM:145000]
Q6P1J9	CDC73_HUMAN	384	L	P	Polymorphism	-
Q6P1K2	PMF1_HUMAN	137	M	I	Polymorphism	-
Q6P1K2	PMF1_HUMAN	75	Q	R	Polymorphism	-
Q6P1L6	ZN343_HUMAN	520	P	L	Polymorphism	-
Q6P1M0	S27A4_HUMAN	92	A	T	Disease	Ichthyosis prematurity syndrome (IPS) [MIM:608649]
Q6P1M0	S27A4_HUMAN	209	G	S	Polymorphism	-
Q6P1M0	S27A4_HUMAN	300	Q	R	Disease	Ichthyosis prematurity syndrome (IPS) [MIM:608649]
Q6P1M0	S27A4_HUMAN	374	R	C	Disease	Ichthyosis prematurity syndrome (IPS) [MIM:608649]
Q6P1M0	S27A4_HUMAN	583	R	H	Disease	Ichthyosis prematurity syndrome (IPS) [MIM:608649]
Q6P1M0	S27A4_HUMAN	247	S	P	Disease	Ichthyosis prematurity syndrome (IPS) [MIM:608649]
Q6P1M3	L2GL2_HUMAN	790	P	L	Polymorphism	-
Q6P1M3	L2GL2_HUMAN	759	P	S	Polymorphism	-
Q6P1M3	L2GL2_HUMAN	45	R	H	Polymorphism	-
Q6P1M3	L2GL2_HUMAN	1001	G	S	Polymorphism	-
Q6P1M3	L2GL2_HUMAN	488	P	L	Polymorphism	-
Q6P1M3	L2GL2_HUMAN	490	L	P	Polymorphism	-
Q6P1M3	L2GL2_HUMAN	748	R	H	Polymorphism	-
Q6P1M3	L2GL2_HUMAN	479	F	L	Polymorphism	-
Q6P1N0	C2D1A_HUMAN	635	T	S	Polymorphism	-
Q6P1N0	C2D1A_HUMAN	339	T	P	Polymorphism	-
Q6P1N0	C2D1A_HUMAN	801	T	M	Polymorphism	-
Q6P1Q0	LTMD1_HUMAN	84	V	I	Polymorphism	-
Q6P1Q9	MET2B_HUMAN	169	E	K	Polymorphism	-
Q6P1Q9	MET2B_HUMAN	266	V	I	Polymorphism	-
Q6P1Q9	MET2B_HUMAN	129	N	H	Polymorphism	-
Q6P1Q9	MET2B_HUMAN	124	C	R	Polymorphism	-
Q6P1Q9	MET2B_HUMAN	68	V	I	Polymorphism	-
Q6P1S2	CC033_HUMAN	47	A	T	Polymorphism	-
Q6P1S2	CC033_HUMAN	160	S	N	Polymorphism	-
Q6P1W5	CA094_HUMAN	438	Y	H	Polymorphism	-
Q6P1W5	CA094_HUMAN	235	Q	E	Polymorphism	-
Q6P1W5	CA094_HUMAN	302	D	E	Polymorphism	-
Q6P1X5	TAF2_HUMAN	447	S	T	Polymorphism	-
Q6P1X5	TAF2_HUMAN	416	P	H	Unclassified	Mental retardation, autosomal recessive 40 (MRT40) [MIM:615599]
Q6P1X5	TAF2_HUMAN	8	P	L	Polymorphism	-
Q6P1X5	TAF2_HUMAN	686	E	K	Polymorphism	-
Q6P1X5	TAF2_HUMAN	649	W	R	Disease	Mental retardation, autosomal recessive 40 (MRT40) [MIM:615599]
Q6P1X5	TAF2_HUMAN	186	T	R	Unclassified	Mental retardation, autosomal recessive 40 (MRT40) [MIM:615599]
Q6P1X5	TAF2_HUMAN	1139	T	A	Polymorphism	-
Q6P1X5	TAF2_HUMAN	1122	S	N	Polymorphism	-
Q6P280	ZN529_HUMAN	131	L	V	Polymorphism	-
Q6P2C0	WDR93_HUMAN	352	T	M	Polymorphism	-
Q6P2C0	WDR93_HUMAN	254	S	T	Polymorphism	-
Q6P2C0	WDR93_HUMAN	66	L	H	Polymorphism	-
Q6P2D8	XRRA1_HUMAN	480	K	E	Polymorphism	-
Q6P2D8	XRRA1_HUMAN	473	T	R	Polymorphism	-
Q6P2H3	CEP85_HUMAN	542	A	T	Polymorphism	-
Q6P2H3	CEP85_HUMAN	668	Q	H	Polymorphism	-
Q6P2H3	CEP85_HUMAN	213	S	N	Polymorphism	-
Q6P2H3	CEP85_HUMAN	48	R	H	Polymorphism	-
Q6P2M8	KCC1B_HUMAN	262	Q	H	Polymorphism	-
Q6P2P2	ANM9_HUMAN	483	S	G	Polymorphism	-
Q6P2P2	ANM9_HUMAN	747	C	Y	Polymorphism	-
Q6P2Q9	PRP8_HUMAN	2310	R	K	Disease	Retinitis pigmentosa 13 (RP13) [MIM:600059]
Q6P2Q9	PRP8_HUMAN	874	P	L	Polymorphism	-
Q6P2Q9	PRP8_HUMAN	2310	R	G	Disease	Retinitis pigmentosa 13 (RP13) [MIM:600059]
Q6P2Q9	PRP8_HUMAN	1293	N	H	Polymorphism	-
Q6P2Q9	PRP8_HUMAN	2314	F	L	Disease	Retinitis pigmentosa 13 (RP13) [MIM:600059]
Q6P2Q9	PRP8_HUMAN	2304	F	L	Disease	Retinitis pigmentosa 13 (RP13) [MIM:600059]
Q6P2Q9	PRP8_HUMAN	2334	Y	N	Disease	Retinitis pigmentosa 13 (RP13) [MIM:600059]
Q6P2Q9	PRP8_HUMAN	227	R	H	Polymorphism	-
Q6P2Q9	PRP8_HUMAN	68	K	E	Polymorphism	-
Q6P2Q9	PRP8_HUMAN	2309	H	R	Disease	Retinitis pigmentosa 13 (RP13) [MIM:600059]
Q6P2Q9	PRP8_HUMAN	2309	H	P	Disease	Retinitis pigmentosa 13 (RP13) [MIM:600059]
Q6P2Q9	PRP8_HUMAN	2301	P	T	Disease	Retinitis pigmentosa 13 (RP13) [MIM:600059]
Q6P387	CP046_HUMAN	77	T	S	Polymorphism	-
Q6P387	CP046_HUMAN	388	P	S	Polymorphism	-
Q6P387	CP046_HUMAN	335	Y	H	Polymorphism	-
Q6P387	CP046_HUMAN	288	I	T	Polymorphism	-
Q6P387	CP046_HUMAN	357	K	E	Polymorphism	-
Q6P3R8	NEK5_HUMAN	531	C	R	Polymorphism	-
Q6P3R8	NEK5_HUMAN	255	K	Q	Polymorphism	-
Q6P3R8	NEK5_HUMAN	290	R	H	Polymorphism	-
Q6P3S1	DEN1B_HUMAN	216	V	M	Polymorphism	-
Q6P3S6	FBX42_HUMAN	471	P	A	Polymorphism	-
Q6P3W2	DJC24_HUMAN	23	N	D	Unclassified	A breast cancer sample
Q6P3W7	SCYL2_HUMAN	863	Q	H	Unclassified	A lung adenocarcinoma sample
Q6P3W7	SCYL2_HUMAN	720	T	S	Polymorphism	-
Q6P3W7	SCYL2_HUMAN	357	P	L	Polymorphism	-
Q6P3X3	TTC27_HUMAN	586	R	H	Polymorphism	-
Q6P3X3	TTC27_HUMAN	476	Y	C	Polymorphism	-
Q6P3X3	TTC27_HUMAN	525	R	H	Polymorphism	-
Q6P3X3	TTC27_HUMAN	498	T	M	Polymorphism	-
Q6P461	ACSM6_HUMAN	40	C	S	Polymorphism	-
Q6P461	ACSM6_HUMAN	227	K	R	Polymorphism	-
Q6P461	ACSM6_HUMAN	19	E	G	Polymorphism	-
Q6P474	PDXD2_HUMAN	429	L	R	Polymorphism	-
Q6P474	PDXD2_HUMAN	429	L	F	Polymorphism	-
Q6P474	PDXD2_HUMAN	209	M	V	Polymorphism	-
Q6P4A8	PLBL1_HUMAN	377	V	A	Polymorphism	-
Q6P4A8	PLBL1_HUMAN	265	V	I	Polymorphism	-
Q6P4A8	PLBL1_HUMAN	534	P	A	Polymorphism	-
Q6P4F1	FUT10_HUMAN	368	L	V	Polymorphism	-
Q6P4F1	FUT10_HUMAN	59	L	F	Polymorphism	-
Q6P4F1	FUT10_HUMAN	371	R	P	Polymorphism	-
Q6P4F1	FUT10_HUMAN	268	Y	H	Polymorphism	-
Q6P4F7	RHGBA_HUMAN	605	E	K	Unclassified	A breast cancer sample
Q6P4H8	ACKMT_HUMAN	114	V	A	Polymorphism	-
Q6P4H8	ACKMT_HUMAN	105	A	V	Polymorphism	-
Q6P4H8	ACKMT_HUMAN	229	L	M	Polymorphism	-
Q6P4H8	ACKMT_HUMAN	75	T	M	Polymorphism	-
Q6P4I2	WDR73_HUMAN	249	R	H	Polymorphism	-
Q6P4Q7	CNNM4_HUMAN	236	R	Q	Disease	Jalili syndrome (JALIS) [MIM:217080]
Q6P4Q7	CNNM4_HUMAN	200	S	Y	Disease	Jalili syndrome (JALIS) [MIM:217080]
Q6P4Q7	CNNM4_HUMAN	324	L	P	Disease	Jalili syndrome (JALIS) [MIM:217080]
Q6P4Q7	CNNM4_HUMAN	134	V	L	Unclassified	A breast cancer sample
Q6P4Q7	CNNM4_HUMAN	126	G	R	Polymorphism	-
Q6P4Q7	CNNM4_HUMAN	196	S	P	Disease	Jalili syndrome (JALIS) [MIM:217080]
Q6P531	GGT6_HUMAN	58	A	V	Polymorphism	-
Q6P531	GGT6_HUMAN	40	R	W	Polymorphism	-
Q6P587	FAHD1_HUMAN	110	D	N	Polymorphism	-
Q6P5R6	RL22L_HUMAN	97	V	F	Polymorphism	-
Q6P5S2	LEG1H_HUMAN	308	C	G	Polymorphism	-
Q6P5W5	S39A4_HUMAN	357	T	A	Polymorphism	-
Q6P5W5	S39A4_HUMAN	526	G	R	Disease	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5W5	S39A4_HUMAN	251	R	W	Unclassified	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5W5	S39A4_HUMAN	95	R	C	Disease	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5W5	S39A4_HUMAN	58	A	T	Polymorphism	-
Q6P5W5	S39A4_HUMAN	630	G	R	Disease	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5W5	S39A4_HUMAN	84	P	L	Polymorphism	-
Q6P5W5	S39A4_HUMAN	309	C	Y	Unclassified	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5W5	S39A4_HUMAN	372	V	P	Disease	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5W5	S39A4_HUMAN	22	A	E	Polymorphism	-
Q6P5W5	S39A4_HUMAN	410	L	P	Unclassified	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5W5	S39A4_HUMAN	330	G	D	Disease	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5W5	S39A4_HUMAN	114	A	T	Polymorphism	-
Q6P5W5	S39A4_HUMAN	372	V	L	Polymorphism	-
Q6P5W5	S39A4_HUMAN	284	E	K	Polymorphism	-
Q6P5W5	S39A4_HUMAN	106	N	K	Disease	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5W5	S39A4_HUMAN	158	M	T	Polymorphism	-
Q6P5W5	S39A4_HUMAN	303	Q	H	Disease	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5W5	S39A4_HUMAN	200	P	L	Disease	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5W5	S39A4_HUMAN	374	G	R	Disease	Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]
Q6P5Z2	PKN3_HUMAN	180	A	E	Polymorphism	-
Q6P5Z2	PKN3_HUMAN	404	V	L	Polymorphism	-
Q6P656	CF161_HUMAN	284	P	S	Polymorphism	-
Q6P6B1	ERIC5_HUMAN	287	H	R	Polymorphism	-
Q6P6B1	ERIC5_HUMAN	244	Q	P	Polymorphism	-
Q6P6B1	ERIC5_HUMAN	59	R	H	Polymorphism	-
Q6P6B7	ANR16_HUMAN	128	A	G	Polymorphism	-
Q6P6B7	ANR16_HUMAN	353	Q	R	Polymorphism	-
Q6P7N7	TMM81_HUMAN	100	F	S	Polymorphism	-
Q6P7N7	TMM81_HUMAN	77	R	Q	Polymorphism	-
Q6P995	F171B_HUMAN	302	V	I	Polymorphism	-
Q6P996	PDXD1_HUMAN	301	P	L	Polymorphism	-
Q6P9A1	ZN530_HUMAN	124	S	P	Polymorphism	-
Q6P9A1	ZN530_HUMAN	169	T	M	Polymorphism	-
Q6P9A1	ZN530_HUMAN	64	T	A	Polymorphism	-
Q6P9A1	ZN530_HUMAN	110	H	Q	Polymorphism	-
Q6P9A1	ZN530_HUMAN	262	G	S	Polymorphism	-
Q6P9A3	ZN549_HUMAN	8	I	N	Polymorphism	-
Q6P9B6	MEAK7_HUMAN	233	E	D	Polymorphism	-
Q6P9B6	MEAK7_HUMAN	97	H	Q	Polymorphism	-
Q6P9B6	MEAK7_HUMAN	172	D	E	Polymorphism	-
Q6P9B6	MEAK7_HUMAN	10	R	L	Polymorphism	-
Q6P9B6	MEAK7_HUMAN	220	I	V	Polymorphism	-
Q6P9B6	MEAK7_HUMAN	267	C	R	Polymorphism	-
Q6P9B6	MEAK7_HUMAN	443	S	L	Polymorphism	-
Q6P9F0	CCD62_HUMAN	394	T	K	Polymorphism	-
Q6P9F0	CCD62_HUMAN	31	Q	E	Unclassified	A colorectal cancer sample
Q6P9F0	CCD62_HUMAN	141	T	M	Polymorphism	-
Q6P9F5	TRI40_HUMAN	244	E	K	Polymorphism	-
Q6P9F5	TRI40_HUMAN	142	K	Q	Polymorphism	-
Q6P9F5	TRI40_HUMAN	215	E	K	Polymorphism	-
Q6P9F7	LRC8B_HUMAN	419	Q	K	Polymorphism	-
Q6P9F7	LRC8B_HUMAN	689	N	S	Polymorphism	-
Q6P9F7	LRC8B_HUMAN	469	R	H	Polymorphism	-
Q6P9F7	LRC8B_HUMAN	288	D	N	Polymorphism	-
Q6P9G0	CB5D1_HUMAN	20	F	L	Polymorphism	-
Q6P9G4	TM154_HUMAN	93	S	F	Polymorphism	-
Q6P9H5	GIMA6_HUMAN	65	V	I	Polymorphism	-
Q6P9H5	GIMA6_HUMAN	237	Q	R	Polymorphism	-
Q6P9H5	GIMA6_HUMAN	171	G	S	Polymorphism	-
Q6P9H5	GIMA6_HUMAN	170	G	D	Polymorphism	-
Q6PB30	CSAG1_HUMAN	62	R	K	Polymorphism	-
Q6PB30	CSAG1_HUMAN	28	Y	F	Polymorphism	-
Q6PCD5	RFWD3_HUMAN	392	R	K	Polymorphism	-
Q6PCD5	RFWD3_HUMAN	770	I	T	Polymorphism	-
Q6PCD5	RFWD3_HUMAN	90	T	N	Polymorphism	-
Q6PCD5	RFWD3_HUMAN	564	I	V	Polymorphism	-
Q6PCD5	RFWD3_HUMAN	639	I	K	Disease	Fanconi anemia, complementation group W (FANCW) [MIM:617784]
Q6PCE3	PGM2L_HUMAN	14	L	P	Polymorphism	-
Q6PCE3	PGM2L_HUMAN	608	N	I	Polymorphism	-
Q6PCE3	PGM2L_HUMAN	531	V	I	Polymorphism	-
Q6PD74	AAGAB_HUMAN	132	I	L	Polymorphism	-
Q6PEW0	PRS54_HUMAN	295	T	A	Polymorphism	-
Q6PEW0	PRS54_HUMAN	240	V	I	Polymorphism	-
Q6PEW0	PRS54_HUMAN	182	S	G	Polymorphism	-
Q6PEW1	ZCH12_HUMAN	241	R	T	Polymorphism	-
Q6PEW1	ZCH12_HUMAN	7	R	C	Polymorphism	-
Q6PEW1	ZCH12_HUMAN	179	L	I	Polymorphism	-
Q6PEW1	ZCH12_HUMAN	214	R	G	Polymorphism	-
Q6PEX3	KR261_HUMAN	188	P	T	Polymorphism	-
Q6PEX3	KR261_HUMAN	26	S	Y	Polymorphism	-
Q6PEX7	TEX38_HUMAN	199	A	V	Polymorphism	-
Q6PEX7	TEX38_HUMAN	104	D	E	Polymorphism	-
Q6PEY0	CXB7_HUMAN	20	T	I	Polymorphism	-
Q6PEY0	CXB7_HUMAN	177	T	M	Polymorphism	-
Q6PEY0	CXB7_HUMAN	206	F	L	Polymorphism	-
Q6PEY1	TMM88_HUMAN	44	L	F	Polymorphism	-
Q6PEY2	TBA3E_HUMAN	101	S	N	Polymorphism	-
Q6PEY2	TBA3E_HUMAN	402	W	R	Polymorphism	-
Q6PEY2	TBA3E_HUMAN	449	A	E	Polymorphism	-
Q6PEY2	TBA3E_HUMAN	162	S	G	Polymorphism	-
Q6PEY2	TBA3E_HUMAN	126	A	V	Polymorphism	-
Q6PEZ8	PONL1_HUMAN	44	R	W	Polymorphism	-
Q6PF04	ZN613_HUMAN	93	K	E	Polymorphism	-
Q6PF04	ZN613_HUMAN	611	D	V	Polymorphism	-
Q6PF04	ZN613_HUMAN	84	D	N	Polymorphism	-
Q6PF04	ZN613_HUMAN	135	I	R	Polymorphism	-
Q6PF04	ZN613_HUMAN	163	S	F	Polymorphism	-
Q6PF05	TT23L_HUMAN	22	H	R	Polymorphism	-
Q6PF05	TT23L_HUMAN	247	K	N	Polymorphism	-
Q6PF05	TT23L_HUMAN	150	T	M	Polymorphism	-
Q6PF05	TT23L_HUMAN	153	N	D	Polymorphism	-
Q6PF05	TT23L_HUMAN	325	R	K	Polymorphism	-
Q6PF05	TT23L_HUMAN	67	K	E	Polymorphism	-
Q6PF06	TM10B_HUMAN	242	V	A	Polymorphism	-
Q6PF06	TM10B_HUMAN	234	V	G	Polymorphism	-
Q6PG37	ZN790_HUMAN	486	T	S	Polymorphism	-
Q6PG37	ZN790_HUMAN	301	Q	R	Polymorphism	-
Q6PGN9	PSRC1_HUMAN	312	R	Q	Polymorphism	-
Q6PGP7	TTC37_HUMAN	1077	A	D	Unclassified	-
Q6PGP7	TTC37_HUMAN	1485	L	R	Unclassified	-
Q6PGP7	TTC37_HUMAN	251	G	R	Disease	Trichohepatoenteric syndrome 1 (THES1) [MIM:222470]
Q6PGP7	TTC37_HUMAN	1270	P	A	Polymorphism	-
Q6PGP7	TTC37_HUMAN	437	L	V	Polymorphism	-
Q6PGP7	TTC37_HUMAN	1296	R	S	Polymorphism	-
Q6PGP7	TTC37_HUMAN	1283	D	N	Disease	Trichohepatoenteric syndrome 1 (THES1) [MIM:222470]
Q6PGP7	TTC37_HUMAN	1505	L	S	Disease	Trichohepatoenteric syndrome 1 (THES1) [MIM:222470]
Q6PGQ1	DRIC1_HUMAN	4	I	T	Polymorphism	-
Q6PGQ7	BORA_HUMAN	308	S	F	Polymorphism	-
Q6PGQ7	BORA_HUMAN	210	S	L	Polymorphism	-
Q6PHR2	ULK3_HUMAN	101	R	H	Polymorphism	-
Q6PHR2	ULK3_HUMAN	445	K	R	Polymorphism	-
Q6PHW0	IYD1_HUMAN	260	L	P	Polymorphism	-
Q6PHW0	IYD1_HUMAN	101	R	W	Disease	Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]
Q6PHW0	IYD1_HUMAN	116	I	T	Disease	Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]
Q6PHW0	IYD1_HUMAN	271	E	K	Polymorphism	-
Q6PI26	SHQ1_HUMAN	140	S	I	Polymorphism	-
Q6PI26	SHQ1_HUMAN	489	S	N	Polymorphism	-
Q6PI47	KCD18_HUMAN	336	G	C	Polymorphism	-
Q6PI47	KCD18_HUMAN	413	A	V	Polymorphism	-
Q6PI47	KCD18_HUMAN	390	C	S	Polymorphism	-
Q6PI47	KCD18_HUMAN	333	A	V	Polymorphism	-
Q6PI48	SYDM_HUMAN	560	D	V	Disease	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48	SYDM_HUMAN	179	R	H	Disease	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48	SYDM_HUMAN	263	R	Q	Disease	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48	SYDM_HUMAN	248	Q	K	Disease	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48	SYDM_HUMAN	184	Q	K	Disease	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48	SYDM_HUMAN	152	C	F	Disease	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48	SYDM_HUMAN	10	L	V	Polymorphism	-
Q6PI48	SYDM_HUMAN	196	K	R	Polymorphism	-
Q6PI48	SYDM_HUMAN	45	S	G	Disease	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48	SYDM_HUMAN	626	L	V	Disease	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48	SYDM_HUMAN	626	L	Q	Disease	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48	SYDM_HUMAN	613	L	F	Disease	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48	SYDM_HUMAN	629	Y	C	Disease	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI73	LIRA6_HUMAN	149	G	R	Polymorphism	-
Q6PI73	LIRA6_HUMAN	69	L	W	Polymorphism	-
Q6PI73	LIRA6_HUMAN	288	P	R	Polymorphism	-
Q6PI73	LIRA6_HUMAN	400	Y	H	Polymorphism	-
Q6PI77	BHLH9_HUMAN	132	S	G	Polymorphism	-
Q6PI77	BHLH9_HUMAN	318	C	R	Polymorphism	-
Q6PI78	TMM65_HUMAN	97	I	V	Polymorphism	-
Q6PID6	TTC33_HUMAN	69	L	M	Polymorphism	-
Q6PID8	KLD10_HUMAN	437	L	I	Polymorphism	-
Q6PID8	KLD10_HUMAN	295	E	G	Polymorphism	-
Q6PID8	KLD10_HUMAN	2	S	L	Polymorphism	-
Q6PID8	KLD10_HUMAN	183	D	G	Polymorphism	-
Q6PID8	KLD10_HUMAN	274	I	V	Polymorphism	-
Q6PIF6	MYO7B_HUMAN	1264	R	Q	Polymorphism	-
Q6PIF6	MYO7B_HUMAN	21	G	S	Polymorphism	-
Q6PIF6	MYO7B_HUMAN	2105	Q	R	Polymorphism	-
Q6PIF6	MYO7B_HUMAN	1647	E	D	Polymorphism	-
Q6PII3	CC174_HUMAN	436	T	M	Polymorphism	-
Q6PIJ6	FBX38_HUMAN	592	S	P	Polymorphism	-
Q6PIJ6	FBX38_HUMAN	206	C	R	Disease	Neuronopathy, distal hereditary motor, 2D (HMN2D) [MIM:615575]
Q6PIJ6	FBX38_HUMAN	894	A	T	Polymorphism	-
Q6PIU1	KCNV1_HUMAN	22	D	G	Polymorphism	-
Q6PIU2	NCEH1_HUMAN	19	V	F	Polymorphism	-
Q6PIU2	NCEH1_HUMAN	343	L	M	Polymorphism	-
Q6PIU2	NCEH1_HUMAN	71	K	Q	Polymorphism	-
Q6PIW4	FIGL1_HUMAN	216	H	Y	Polymorphism	-
Q6PIW4	FIGL1_HUMAN	137	V	M	Polymorphism	-
Q6PIZ9	TRAT1_HUMAN	137	D	G	Polymorphism	-
Q6PIZ9	TRAT1_HUMAN	148	S	P	Polymorphism	-
Q6PJ21	SPSB3_HUMAN	171	S	L	Polymorphism	-
Q6PJ69	TRI65_HUMAN	222	V	G	Polymorphism	-
Q6PJ69	TRI65_HUMAN	364	G	R	Polymorphism	-
Q6PJ69	TRI65_HUMAN	366	G	S	Polymorphism	-
Q6PJ69	TRI65_HUMAN	509	L	P	Polymorphism	-
Q6PJE2	POZP3_HUMAN	176	R	H	Polymorphism	-
Q6PJF5	RHDF2_HUMAN	208	P	L	Polymorphism	-
Q6PJF5	RHDF2_HUMAN	189	P	L	Disease	Tylosis with esophageal cancer (TOC) [MIM:148500]
Q6PJF5	RHDF2_HUMAN	186	I	T	Disease	Tylosis with esophageal cancer (TOC) [MIM:148500]
Q6PJF5	RHDF2_HUMAN	249	A	T	Polymorphism	-
Q6PJF5	RHDF2_HUMAN	528	D	Y	Polymorphism	-
Q6PJG2	EMSA1_HUMAN	554	P	L	Polymorphism	-
Q6PJG2	EMSA1_HUMAN	895	D	N	Polymorphism	-
Q6PJG2	EMSA1_HUMAN	86	A	V	Polymorphism	-
Q6PJG6	BRAT1_HUMAN	609	R	W	Unclassified	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) [MIM:618056]
Q6PJG6	BRAT1_HUMAN	737	R	W	Polymorphism	-
Q6PJG6	BRAT1_HUMAN	140	L	P	Unclassified	Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) [MIM:614498]
Q6PJG6	BRAT1_HUMAN	140	L	P	Unclassified	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) [MIM:618056]
Q6PJG6	BRAT1_HUMAN	642	A	E	Unclassified	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) [MIM:618056]
Q6PJG6	BRAT1_HUMAN	20	R	G	Polymorphism	-
Q6PJG9	LRFN4_HUMAN	340	V	A	Polymorphism	-
Q6PJI9	WDR59_HUMAN	201	P	T	Polymorphism	-
Q6PJP8	DCR1A_HUMAN	71	G	D	Polymorphism	-
Q6PJP8	DCR1A_HUMAN	287	P	L	Polymorphism	-
Q6PJP8	DCR1A_HUMAN	317	D	H	Polymorphism	-
Q6PJP8	DCR1A_HUMAN	582	G	W	Polymorphism	-
Q6PJP8	DCR1A_HUMAN	59	E	D	Polymorphism	-
Q6PJP8	DCR1A_HUMAN	58	K	E	Polymorphism	-
Q6PJP8	DCR1A_HUMAN	859	I	F	Polymorphism	-
Q6PJQ5	FOXR2_HUMAN	286	V	A	Polymorphism	-
Q6PJW8	CNST_HUMAN	87	L	S	Polymorphism	-
Q6PJW8	CNST_HUMAN	28	S	N	Polymorphism	-
Q6PJW8	CNST_HUMAN	399	R	C	Polymorphism	-
Q6PJW8	CNST_HUMAN	183	Q	R	Polymorphism	-
Q6PK04	CC137_HUMAN	282	R	W	Polymorphism	-
Q6PK04	CC137_HUMAN	229	R	Q	Polymorphism	-
Q6PK04	CC137_HUMAN	177	R	W	Polymorphism	-
Q6PK04	CC137_HUMAN	127	H	Q	Polymorphism	-
Q6PK18	OGFD3_HUMAN	67	D	E	Polymorphism	-
Q6PK18	OGFD3_HUMAN	272	P	R	Polymorphism	-
Q6PKC3	TXD11_HUMAN	783	V	L	Polymorphism	-
Q6PKH6	DR4L2_HUMAN	17	L	M	Polymorphism	-
Q6PL18	ATAD2_HUMAN	1280	I	T	Polymorphism	-
Q6PL24	TMED8_HUMAN	5	Q	K	Polymorphism	-
Q6PL45	BRID5_HUMAN	122	H	Y	Polymorphism	-
Q6PL45	BRID5_HUMAN	31	S	G	Polymorphism	-
Q6PL45	BRID5_HUMAN	46	V	I	Polymorphism	-
Q6PML9	ZNT9_HUMAN	353	L	S	Polymorphism	-
Q6PML9	ZNT9_HUMAN	97	T	A	Polymorphism	-
Q6PML9	ZNT9_HUMAN	50	M	V	Polymorphism	-
Q6PRD1	GP179_HUMAN	455	G	D	Disease	Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565]
Q6PRD1	GP179_HUMAN	220	Y	C	Disease	Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565]
Q6PRD1	GP179_HUMAN	603	H	Y	Disease	Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565]
Q6PRD1	GP179_HUMAN	1869	Q	E	Polymorphism	-
Q6PRD1	GP179_HUMAN	1176	Q	E	Polymorphism	-
Q6PRD1	GP179_HUMAN	126	D	H	Disease	Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565]
Q6PRD1	GP179_HUMAN	1150	K	E	Polymorphism	-
Q6PRD1	GP179_HUMAN	1381	C	R	Polymorphism	-
Q6PRD7	CEMP1_HUMAN	55	K	E	Polymorphism	-
Q6PXP3	GTR7_HUMAN	261	R	Q	Polymorphism	-
Q6PXP3	GTR7_HUMAN	135	V	I	Polymorphism	-
Q6Q0C0	TRAF7_HUMAN	371	R	G	Disease	Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164]
Q6Q0C0	TRAF7_HUMAN	601	T	A	Disease	Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164]
Q6Q0C0	TRAF7_HUMAN	655	R	Q	Disease	Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164]
Q6Q0C0	TRAF7_HUMAN	346	K	E	Disease	Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164]
Q6Q4G3	AMPQ_HUMAN	936	V	I	Polymorphism	-
Q6Q4G3	AMPQ_HUMAN	640	V	F	Polymorphism	-
Q6Q4G3	AMPQ_HUMAN	689	L	F	Polymorphism	-
Q6Q759	SPG17_HUMAN	158	E	V	Polymorphism	-
Q6Q759	SPG17_HUMAN	1253	T	P	Polymorphism	-
Q6Q759	SPG17_HUMAN	143	R	Q	Polymorphism	-
Q6Q759	SPG17_HUMAN	1348	P	L	Polymorphism	-
Q6Q759	SPG17_HUMAN	1707	D	E	Unclassified	A colorectal cancer sample
Q6Q788	APOA5_HUMAN	19	S	W	Polymorphism	-
Q6Q788	APOA5_HUMAN	185	G	C	Polymorphism	-
Q6Q788	APOA5_HUMAN	153	V	M	Polymorphism	-
Q6Q788	APOA5_HUMAN	37	D	E	Polymorphism	-
Q6Q8B3	MO2R2_HUMAN	113	R	L	Polymorphism	-
Q6QHC5	DEGS2_HUMAN	57	A	T	Polymorphism	-
Q6QHC5	DEGS2_HUMAN	8	S	N	Polymorphism	-
Q6QHK4	FIGLA_HUMAN	141	S	T	Polymorphism	-
Q6QHK4	FIGLA_HUMAN	4	A	E	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	458	A	T	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	82	T	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	836	A	T	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	836	A	V	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	831	A	T	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	478	S	L	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	476	N	S	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	454	C	Y	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	89	Y	D	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	85	Y	C	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	484	T	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	413	E	K	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	868	R	H	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	540	R	H	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	199	R	C	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	851	M	T	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	499	A	S	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	560	R	H	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	441	A	T	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	145	V	L	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	869	V	I	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	560	R	C	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	567	S	L	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	538	V	A	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	699	G	V	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	425	G	S	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	695	M	T	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	538	V	I	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	419	A	V	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	485	V	I	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	399	R	C	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	448	A	D	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	761	A	E	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	779	A	V	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	601	R	H	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	140	G	S	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	450	H	R	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	630	T	I	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	540	R	C	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	242	M	T	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	743	A	T	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	589	A	T	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	138	S	F	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	673	R	H	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	245	T	I	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	453	D	N	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	404	G	A	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	751	D	E	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	150	R	W	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	141	G	D	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	874	V	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	508	V	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	265	S	Y	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	203	E	D	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	110	F	L	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	270	V	A	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	816	A	T	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	405	Q	P	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	870	D	N	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	498	E	G	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	777	V	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	720	A	V	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	18	Y	C	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	383	F	S	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	233	R	W	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	827	T	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	410	I	V	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	270	V	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	78	E	K	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	174	W	S	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	524	N	K	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	569	I	V	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	226	D	N	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	32	D	N	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	257	T	A	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	393	V	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	523	S	L	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	667	S	L	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	195	G	R	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	594	V	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	624	R	C	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	364	N	S	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	259	P	Q	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	749	H	R	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	18	Y	H	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	411	P	S	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	764	V	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	793	T	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	626	E	K	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	209	V	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	318	L	F	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	199	R	H	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	608	L	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	795	N	K	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	308	P	S	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	178	E	K	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	464	S	A	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	293	P	A	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	294	G	R	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	268	S	N	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	241	A	T	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	397	H	Q	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	369	T	M	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	184	V	I	Polymorphism	-
Q6QNK2	AGRD1_HUMAN	349	S	N	Polymorphism	-
Q6QNY1	BL1S2_HUMAN	13	S	R	Polymorphism	-
Q6R2W3	SCND3_HUMAN	465	Q	K	Polymorphism	-
Q6R2W3	SCND3_HUMAN	155	M	V	Polymorphism	-
Q6R327	RICTR_HUMAN	837	S	F	Polymorphism	-
Q6R6M4	U17L2_HUMAN	438	K	R	Polymorphism	-
Q6RI45	BRWD3_HUMAN	1596	K	E	Disease	Mental retardation, X-linked 93 (MRX93) [MIM:300659]
Q6RI45	BRWD3_HUMAN	1288	K	R	Polymorphism	-
Q6RUI8	CS048_HUMAN	84	R	C	Polymorphism	-
Q6RUI8	CS048_HUMAN	7	V	I	Polymorphism	-
Q6RUI8	CS048_HUMAN	104	G	E	Polymorphism	-
Q6RW13	ATRAP_HUMAN	143	A	V	Polymorphism	-
Q6S5L8	SHC4_HUMAN	244	K	E	Polymorphism	-
Q6S5L8	SHC4_HUMAN	52	N	D	Polymorphism	-
Q6S5L8	SHC4_HUMAN	400	Q	H	Polymorphism	-
Q6S5L8	SHC4_HUMAN	447	D	G	Polymorphism	-
Q6S9Z5	ZN474_HUMAN	173	R	H	Polymorphism	-
Q6SA08	TSSK4_HUMAN	196	Q	R	Polymorphism	-
Q6SA08	TSSK4_HUMAN	327	T	M	Polymorphism	-
Q6SA08	TSSK4_HUMAN	33	H	Y	Polymorphism	-
Q6SA08	TSSK4_HUMAN	145	V	M	Polymorphism	-
Q6SA08	TSSK4_HUMAN	89	Y	C	Polymorphism	-
Q6SJ93	F111B_HUMAN	731	P	A	Polymorphism	-
Q6SJ93	F111B_HUMAN	621	Y	D	Disease	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704]
Q6SJ93	F111B_HUMAN	627	R	G	Disease	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704]
Q6SJ93	F111B_HUMAN	218	G	D	Polymorphism	-
Q6SJ93	F111B_HUMAN	628	S	N	Disease	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704]
Q6SJ96	TBPL2_HUMAN	31	R	P	Polymorphism	-
Q6SPF0	SAMD1_HUMAN	340	E	D	Polymorphism	-
Q6STE5	SMRD3_HUMAN	170	P	S	Polymorphism	-
Q6SZW1	SARM1_HUMAN	23	P	R	Polymorphism	-
Q6T423	S22AP_HUMAN	486	M	V	Polymorphism	-
Q6T423	S22AP_HUMAN	300	R	T	Polymorphism	-
Q6T423	S22AP_HUMAN	89	R	C	Polymorphism	-
Q6T423	S22AP_HUMAN	448	G	A	Polymorphism	-
Q6T423	S22AP_HUMAN	250	S	G	Polymorphism	-
Q6T4P5	PLPR3_HUMAN	690	A	V	Polymorphism	-
Q6T4P5	PLPR3_HUMAN	193	I	T	Polymorphism	-
Q6T4R5	NHS_HUMAN	1531	S	T	Polymorphism	-
Q6T4R5	NHS_HUMAN	583	R	C	Polymorphism	-
Q6T4R5	NHS_HUMAN	1628	A	P	Polymorphism	-
Q6T4R5	NHS_HUMAN	1556	S	T	Polymorphism	-
Q6T4R5	NHS_HUMAN	1340	F	L	Polymorphism	-
Q6T4R5	NHS_HUMAN	865	A	T	Unclassified	A breast cancer sample
Q6TDU7	CASC1_HUMAN	33	R	S	Polymorphism	-
Q6TDU7	CASC1_HUMAN	633	A	E	Polymorphism	-
Q6TFL3	CC171_HUMAN	121	S	T	Polymorphism	-
Q6TFL3	CC171_HUMAN	17	I	N	Polymorphism	-
Q6TFL3	CC171_HUMAN	1069	K	R	Polymorphism	-
Q6TFL3	CC171_HUMAN	495	N	I	Polymorphism	-
Q6TFL3	CC171_HUMAN	821	C	Y	Polymorphism	-
Q6TGC4	PADI6_HUMAN	211	H	Q	Disease	Preimplantation embryonic lethality 2 (PREMBL2) [MIM:617234]
Q6TGC4	PADI6_HUMAN	540	G	R	Disease	Preimplantation embryonic lethality 2 (PREMBL2) [MIM:617234]
Q6U949	IG2AS_HUMAN	112	P	T	Polymorphism	-
Q6U949	IG2AS_HUMAN	125	F	V	Polymorphism	-
Q6U949	IG2AS_HUMAN	106	S	I	Polymorphism	-
Q6U949	IG2AS_HUMAN	150	T	A	Polymorphism	-
Q6UB28	MAP12_HUMAN	14	G	V	Polymorphism	-
Q6UB35	C1TM_HUMAN	444	L	R	Unclassified	A colorectal cancer sample
Q6UB98	ANR12_HUMAN	390	E	D	Polymorphism	-
Q6UB98	ANR12_HUMAN	507	T	I	Polymorphism	-
Q6UB98	ANR12_HUMAN	307	S	C	Unclassified	-
Q6UB98	ANR12_HUMAN	1758	S	P	Polymorphism	-
Q6UB98	ANR12_HUMAN	818	S	N	Polymorphism	-
Q6UB98	ANR12_HUMAN	998	L	S	Polymorphism	-
Q6UB98	ANR12_HUMAN	171	S	T	Polymorphism	-
Q6UB98	ANR12_HUMAN	531	T	S	Polymorphism	-
Q6UB98	ANR12_HUMAN	906	K	R	Polymorphism	-
Q6UB98	ANR12_HUMAN	277	P	A	Polymorphism	-
Q6UB99	ANR11_HUMAN	2512	R	Q	Unclassified	KBG syndrome (KBGS) [MIM:148050]
Q6UDR6	SPIT4_HUMAN	73	G	S	Polymorphism	-
Q6UDR6	SPIT4_HUMAN	30	A	E	Polymorphism	-
Q6UE05	TM270_HUMAN	78	W	R	Polymorphism	-
Q6UE05	TM270_HUMAN	67	G	V	Polymorphism	-
Q6UE05	TM270_HUMAN	70	A	D	Polymorphism	-
Q6UE05	TM270_HUMAN	14	I	N	Polymorphism	-
Q6ULP2	AFTIN_HUMAN	233	D	G	Polymorphism	-
Q6ULP2	AFTIN_HUMAN	550	N	S	Polymorphism	-
Q6ULP2	AFTIN_HUMAN	301	E	K	Polymorphism	-
Q6UQ28	PLET1_HUMAN	142	S	P	Polymorphism	-
Q6URK8	TEPP_HUMAN	260	S	N	Polymorphism	-
Q6UUV7	CRTC3_HUMAN	72	S	N	Polymorphism	-
Q6UUV7	CRTC3_HUMAN	346	L	S	Polymorphism	-
Q6UUV9	CRTC1_HUMAN	311	V	I	Polymorphism	-
Q6UUV9	CRTC1_HUMAN	286	T	A	Polymorphism	-
Q6UUV9	CRTC1_HUMAN	328	T	A	Polymorphism	-
Q6UVJ0	SAS6_HUMAN	259	A	V	Polymorphism	-
Q6UVJ0	SAS6_HUMAN	62	I	T	Disease	Microcephaly 14, primary, autosomal recessive (MCPH14) [MIM:616402]
Q6UVK1	CSPG4_HUMAN	1703	R	H	Polymorphism	-
Q6UVM3	KCNT2_HUMAN	413	C	W	Polymorphism	-
Q6UVM3	KCNT2_HUMAN	240	F	L	Disease	Epileptic encephalopathy, early infantile, 57 (EIEE57) [MIM:617771]
Q6UVM3	KCNT2_HUMAN	33	V	I	Unclassified	A breast cancer sample
Q6UVM3	KCNT2_HUMAN	429	K	N	Polymorphism	-
Q6UVW9	CLC2A_HUMAN	136	G	D	Polymorphism	-
Q6UVY6	MOXD1_HUMAN	488	E	Q	Polymorphism	-
Q6UVY6	MOXD1_HUMAN	539	K	E	Polymorphism	-
Q6UW02	CP20A_HUMAN	346	L	F	Polymorphism	-
Q6UW02	CP20A_HUMAN	97	S	L	Polymorphism	-
Q6UW10	SFTA2_HUMAN	37	N	S	Polymorphism	-
Q6UW49	SPESP_HUMAN	133	L	F	Polymorphism	-
Q6UW49	SPESP_HUMAN	191	G	E	Polymorphism	-
Q6UW49	SPESP_HUMAN	134	H	Q	Polymorphism	-
Q6UW56	ARAID_HUMAN	209	A	S	Polymorphism	-
Q6UW60	PCSK4_HUMAN	267	T	M	Polymorphism	-
Q6UW63	PLGT2_HUMAN	114	I	V	Polymorphism	-
Q6UW78	UQCC3_HUMAN	20	V	E	Disease	Mitochondrial complex III deficiency, nuclear 9 (MC3DN9) [MIM:616111]
Q6UWB4	PRS55_HUMAN	44	P	R	Polymorphism	-
Q6UWB4	PRS55_HUMAN	212	A	V	Polymorphism	-
Q6UWE0	LRSM1_HUMAN	694	C	R	Disease	Charcot-Marie-Tooth disease 2P (CMT2P) [MIM:614436]
Q6UWE0	LRSM1_HUMAN	318	N	D	Polymorphism	-
Q6UWE0	LRSM1_HUMAN	694	C	Y	Unclassified	Charcot-Marie-Tooth disease 2P (CMT2P) [MIM:614436]
Q6UWF7	NXPE4_HUMAN	451	A	V	Polymorphism	-
Q6UWF7	NXPE4_HUMAN	398	Y	H	Polymorphism	-
Q6UWF9	F180A_HUMAN	96	V	I	Polymorphism	-
Q6UWH4	GAK1B_HUMAN	432	G	S	Polymorphism	-
Q6UWI2	PARM1_HUMAN	127	S	L	Polymorphism	-
Q6UWJ1	TMCO3_HUMAN	445	A	T	Polymorphism	-
Q6UWJ1	TMCO3_HUMAN	443	A	T	Polymorphism	-
Q6UWJ1	TMCO3_HUMAN	14	P	L	Unclassified	-
Q6UWJ8	C16L2_HUMAN	76	V	M	Polymorphism	-
Q6UWL2	SUSD1_HUMAN	524	H	Q	Polymorphism	-
Q6UWL2	SUSD1_HUMAN	201	Q	E	Polymorphism	-
Q6UWL6	KIRR2_HUMAN	170	A	T	Polymorphism	-
Q6UWL6	KIRR2_HUMAN	591	K	E	Polymorphism	-
Q6UWL6	KIRR2_HUMAN	19	R	S	Polymorphism	-
Q6UWL6	KIRR2_HUMAN	353	V	M	Polymorphism	-
Q6UWL6	KIRR2_HUMAN	556	S	N	Polymorphism	-
Q6UWM7	LCTL_HUMAN	212	T	M	Polymorphism	-
Q6UWM7	LCTL_HUMAN	240	A	T	Polymorphism	-
Q6UWN0	LYPD4_HUMAN	184	T	S	Polymorphism	-
Q6UWN5	LYPD5_HUMAN	47	P	A	Polymorphism	-
Q6UWN5	LYPD5_HUMAN	90	A	P	Polymorphism	-
Q6UWN5	LYPD5_HUMAN	167	N	S	Polymorphism	-
Q6UWN8	ISK6_HUMAN	36	P	T	Polymorphism	-
Q6UWP7	LCLT1_HUMAN	290	I	V	Polymorphism	-
Q6UWP8	SBSN_HUMAN	419	A	G	Polymorphism	-
Q6UWQ5	LYZL1_HUMAN	62	Q	P	Polymorphism	-
Q6UWR7	ENPP6_HUMAN	357	D	N	Polymorphism	-
Q6UWR7	ENPP6_HUMAN	419	S	G	Polymorphism	-
Q6UWT4	CE046_HUMAN	18	F	I	Polymorphism	-
Q6UWV2	MPZL3_HUMAN	228	D	V	Polymorphism	-
Q6UWV2	MPZL3_HUMAN	155	M	V	Polymorphism	-
Q6UWV2	MPZL3_HUMAN	168	V	G	Polymorphism	-
Q6UWV2	MPZL3_HUMAN	172	V	M	Polymorphism	-
Q6UWV6	ENPP7_HUMAN	4	L	P	Polymorphism	-
Q6UWW0	LCN15_HUMAN	164	K	E	Polymorphism	-
Q6UWW0	LCN15_HUMAN	152	S	A	Polymorphism	-
Q6UWW8	EST3_HUMAN	523	A	V	Polymorphism	-
Q6UWW8	EST3_HUMAN	160	Y	H	Polymorphism	-
Q6UWW8	EST3_HUMAN	555	I	V	Polymorphism	-
Q6UWW8	EST3_HUMAN	213	I	N	Polymorphism	-
Q6UWW8	EST3_HUMAN	191	E	K	Polymorphism	-
Q6UWW8	EST3_HUMAN	129	V	I	Polymorphism	-
Q6UWW8	EST3_HUMAN	367	R	W	Polymorphism	-
Q6UWW8	EST3_HUMAN	151	A	T	Polymorphism	-
Q6UWW9	TM207_HUMAN	57	L	V	Polymorphism	-
Q6UWX4	HIPL2_HUMAN	434	R	L	Polymorphism	-
Q6UWX4	HIPL2_HUMAN	394	R	Q	Polymorphism	-
Q6UWX4	HIPL2_HUMAN	241	V	M	Polymorphism	-
Q6UWX4	HIPL2_HUMAN	391	H	D	Polymorphism	-
Q6UWY0	ARSK_HUMAN	525	Q	R	Polymorphism	-
Q6UWY2	PRS57_HUMAN	143	P	L	Polymorphism	-
Q6UWY5	OLFL1_HUMAN	113	E	V	Polymorphism	-
Q6UWY5	OLFL1_HUMAN	259	A	T	Polymorphism	-
Q6UWZ7	ABRX1_HUMAN	348	A	T	Polymorphism	-
Q6UWZ7	ABRX1_HUMAN	373	D	N	Polymorphism	-
Q6UWZ7	ABRX1_HUMAN	239	A	T	Polymorphism	-
Q6UWZ7	ABRX1_HUMAN	361	R	Q	Disease	Breast cancer (BC) [MIM:114480]
Q6UX04	CWC27_HUMAN	256	P	A	Polymorphism	-
Q6UX06	OLFM4_HUMAN	36	S	P	Polymorphism	-
Q6UX07	DHR13_HUMAN	191	R	Q	Polymorphism	-
Q6UX07	DHR13_HUMAN	336	L	Q	Polymorphism	-
Q6UX15	LAYN_HUMAN	66	E	K	Polymorphism	-
Q6UX27	VSTM1_HUMAN	163	S	G	Polymorphism	-
Q6UX39	AMTN_HUMAN	78	G	S	Unclassified	A colorectal cancer sample
Q6UX39	AMTN_HUMAN	45	N	S	Polymorphism	-
Q6UX39	AMTN_HUMAN	50	S	P	Polymorphism	-
Q6UX40	TM107_HUMAN	45	E	G	Disease	Orofaciodigital syndrome 16 (OFD16) [MIM:617563]
Q6UX41	BTNL8_HUMAN	326	T	K	Polymorphism	-
Q6UX41	BTNL8_HUMAN	229	E	K	Polymorphism	-
Q6UX41	BTNL8_HUMAN	477	A	T	Polymorphism	-
Q6UX41	BTNL8_HUMAN	143	T	A	Polymorphism	-
Q6UX41	BTNL8_HUMAN	311	H	Q	Polymorphism	-
Q6UX52	IL40_HUMAN	101	W	R	Polymorphism	-
Q6UX65	DRAM2_HUMAN	121	H	L	Disease	Cone-rod dystrophy 21 (CORD21) [MIM:616502]
Q6UX65	DRAM2_HUMAN	27	Y	H	Disease	Cone-rod dystrophy 21 (CORD21) [MIM:616502]
Q6UX65	DRAM2_HUMAN	44	S	N	Disease	Cone-rod dystrophy 21 (CORD21) [MIM:616502]
Q6UX71	PXDC2_HUMAN	396	V	I	Polymorphism	-
Q6UX71	PXDC2_HUMAN	458	I	V	Polymorphism	-
Q6UX73	CP089_HUMAN	296	L	S	Polymorphism	-
Q6UX73	CP089_HUMAN	363	Y	H	Polymorphism	-
Q6UX73	CP089_HUMAN	215	G	A	Polymorphism	-
Q6UXA7	CF015_HUMAN	48	G	R	Polymorphism	-
Q6UXA7	CF015_HUMAN	232	M	I	Polymorphism	-
Q6UXA7	CF015_HUMAN	83	A	P	Polymorphism	-
Q6UXA7	CF015_HUMAN	81	V	A	Polymorphism	-
Q6UXA7	CF015_HUMAN	165	K	E	Polymorphism	-
Q6UXA7	CF015_HUMAN	291	G	D	Polymorphism	-
Q6UXA7	CF015_HUMAN	5	V	M	Polymorphism	-
Q6UXA7	CF015_HUMAN	145	A	P	Polymorphism	-
Q6UXA7	CF015_HUMAN	40	L	F	Polymorphism	-
Q6UXA7	CF015_HUMAN	43	N	D	Polymorphism	-
Q6UXB0	F131A_HUMAN	291	S	N	Unclassified	A breast cancer sample
Q6UXB1	IGFL3_HUMAN	66	T	S	Polymorphism	-
Q6UXB3	LYPD2_HUMAN	5	R	Q	Polymorphism	-
Q6UXB3	LYPD2_HUMAN	7	A	V	Polymorphism	-
Q6UXB8	PI16_HUMAN	416	L	V	Polymorphism	-
Q6UXB8	PI16_HUMAN	50	T	P	Polymorphism	-
Q6UXC1	AEGP_HUMAN	987	W	G	Polymorphism	-
Q6UXC1	AEGP_HUMAN	244	P	T	Unclassified	A breast cancer sample
Q6UXC1	AEGP_HUMAN	1174	R	W	Unclassified	A breast cancer sample
Q6UXD5	SE6L2_HUMAN	74	R	P	Polymorphism	-
Q6UXD7	S49A3_HUMAN	170	S	P	Polymorphism	-
Q6UXF1	TM108_HUMAN	84	P	L	Polymorphism	-
Q6UXG2	K1324_HUMAN	829	S	R	Unclassified	A breast cancer sample
Q6UXG2	K1324_HUMAN	1009	L	P	Polymorphism	-
Q6UXG2	K1324_HUMAN	86	I	V	Polymorphism	-
Q6UXG2	K1324_HUMAN	623	T	P	Polymorphism	-
Q6UXG3	CLM9_HUMAN	221	D	N	Polymorphism	-
Q6UXG3	CLM9_HUMAN	228	T	A	Polymorphism	-
Q6UXG8	BTNL9_HUMAN	511	G	R	Polymorphism	-
Q6UXH0	ANGL8_HUMAN	59	R	W	Polymorphism	-
Q6UXH0	ANGL8_HUMAN	147	R	Q	Polymorphism	-
Q6UXH1	CREL2_HUMAN	182	D	E	Polymorphism	-
Q6UXH1	CREL2_HUMAN	295	S	A	Polymorphism	-
Q6UXH1	CREL2_HUMAN	325	E	G	Polymorphism	-
Q6UXH8	CCBE1_HUMAN	158	R	C	Disease	Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510]
Q6UXH8	CCBE1_HUMAN	193	V	G	Polymorphism	-
Q6UXH8	CCBE1_HUMAN	174	C	R	Disease	Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510]
Q6UXH8	CCBE1_HUMAN	75	C	S	Disease	Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510]
Q6UXH8	CCBE1_HUMAN	102	C	S	Disease	Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510]
Q6UXH8	CCBE1_HUMAN	327	G	R	Disease	Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510]
Q6UXH9	PAMR1_HUMAN	305	A	T	Polymorphism	-
Q6UXI7	VITRN_HUMAN	555	K	R	Polymorphism	-
Q6UXI7	VITRN_HUMAN	658	H	Y	Polymorphism	-
Q6UXI7	VITRN_HUMAN	559	L	I	Polymorphism	-
Q6UXI9	NPNT_HUMAN	234	I	V	Polymorphism	-
Q6UXI9	NPNT_HUMAN	473	G	S	Polymorphism	-
Q6UXI9	NPNT_HUMAN	159	Q	H	Polymorphism	-
Q6UXI9	NPNT_HUMAN	476	M	T	Polymorphism	-
Q6UXK2	ISLR2_HUMAN	137	S	F	Polymorphism	-
Q6UXK5	LRRN1_HUMAN	395	L	V	Polymorphism	-
Q6UXK5	LRRN1_HUMAN	702	T	P	Polymorphism	-
Q6UXN2	TRML4_HUMAN	73	W	R	Polymorphism	-
Q6UXN2	TRML4_HUMAN	146	T	K	Polymorphism	-
Q6UXN2	TRML4_HUMAN	168	T	I	Polymorphism	-
Q6UXN8	CLC9A_HUMAN	107	A	G	Polymorphism	-
Q6UXP3	TM14E_HUMAN	82	L	P	Polymorphism	-
Q6UXP7	F151B_HUMAN	155	I	T	Polymorphism	-
Q6UXS9	CASPC_HUMAN	238	S	G	Polymorphism	-
Q6UXS9	CASPC_HUMAN	68	I	T	Polymorphism	-
Q6UXT9	ABH15_HUMAN	334	T	A	Polymorphism	-
Q6UXU6	TMM92_HUMAN	90	S	N	Polymorphism	-
Q6UXU6	TMM92_HUMAN	4	A	T	Polymorphism	-
Q6UXU6	TMM92_HUMAN	90	S	T	Polymorphism	-
Q6UXV0	GFRAL_HUMAN	195	D	H	Unclassified	A breast cancer sample
Q6UXV0	GFRAL_HUMAN	33	R	C	Polymorphism	-
Q6UXV0	GFRAL_HUMAN	387	S	P	Polymorphism	-
Q6UXV1	IZUM2_HUMAN	139	R	C	Polymorphism	-
Q6UXX5	ITIH6_HUMAN	561	R	C	Polymorphism	-
Q6UXX5	ITIH6_HUMAN	1041	W	S	Polymorphism	-
Q6UXX5	ITIH6_HUMAN	387	G	R	Polymorphism	-
Q6UXX5	ITIH6_HUMAN	1170	G	A	Polymorphism	-
Q6UXX9	RSPO2_HUMAN	186	L	P	Polymorphism	-
Q6UXX9	RSPO2_HUMAN	69	R	C	Disease	Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) [MIM:618022]
Q6UXY8	TMC5_HUMAN	355	A	T	Polymorphism	-
Q6UXY8	TMC5_HUMAN	328	S	N	Polymorphism	-
Q6UXZ3	CLM5_HUMAN	89	V	M	Polymorphism	-
Q6UXZ3	CLM5_HUMAN	6	S	A	Polymorphism	-
Q6UXZ4	UNC5D_HUMAN	728	R	K	Polymorphism	-
Q6UY01	LRC31_HUMAN	322	L	F	Polymorphism	-
Q6UY01	LRC31_HUMAN	324	A	E	Polymorphism	-
Q6UY01	LRC31_HUMAN	378	L	F	Polymorphism	-
Q6UY09	CEA20_HUMAN	355	S	L	Polymorphism	-
Q6UY09	CEA20_HUMAN	127	I	V	Polymorphism	-
Q6UY09	CEA20_HUMAN	113	R	H	Polymorphism	-
Q6UY09	CEA20_HUMAN	512	R	C	Polymorphism	-
Q6UY09	CEA20_HUMAN	369	S	F	Polymorphism	-
Q6UY09	CEA20_HUMAN	87	T	I	Polymorphism	-
Q6UY09	CEA20_HUMAN	41	A	V	Polymorphism	-
Q6UY11	DLK2_HUMAN	301	G	R	Polymorphism	-
Q6UY14	ATL4_HUMAN	193	A	P	Polymorphism	-
Q6UY14	ATL4_HUMAN	1028	R	H	Polymorphism	-
Q6UYE1	LEU7_HUMAN	83	A	V	Polymorphism	-
Q6V0I7	FAT4_HUMAN	486	E	Q	Disease	Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006]
Q6V0I7	FAT4_HUMAN	2375	E	K	Disease	Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006]
Q6V0I7	FAT4_HUMAN	4159	C	F	Disease	Van Maldergem syndrome 2 (VMLDS2) [MIM:615546]
Q6V0I7	FAT4_HUMAN	3828	K	E	Polymorphism	-
Q6V0I7	FAT4_HUMAN	4977	A	T	Polymorphism	-
Q6V0I7	FAT4_HUMAN	4282	S	F	Disease	Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006]
Q6V0I7	FAT4_HUMAN	3873	S	N	Polymorphism	-
Q6V0I7	FAT4_HUMAN	2826	D	N	Polymorphism	-
Q6V0I7	FAT4_HUMAN	2375	E	K	Disease	Van Maldergem syndrome 2 (VMLDS2) [MIM:615546]
Q6V0I7	FAT4_HUMAN	807	A	V	Polymorphism	-
Q6V0I7	FAT4_HUMAN	475	F	L	Disease	Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006]
Q6V0I7	FAT4_HUMAN	4374	E	K	Polymorphism	-
Q6V0I7	FAT4_HUMAN	453	Q	L	Polymorphism	-
Q6V0I7	FAT4_HUMAN	4398	C	Y	Disease	Van Maldergem syndrome 2 (VMLDS2) [MIM:615546]
Q6V0I7	FAT4_HUMAN	4972	P	S	Polymorphism	-
Q6V0I7	FAT4_HUMAN	3524	G	D	Polymorphism	-
Q6V0L0	CP26C_HUMAN	245	R	Q	Polymorphism	-
Q6V1P9	PCD23_HUMAN	344	S	L	Polymorphism	-
Q6V1P9	PCD23_HUMAN	827	V	I	Polymorphism	-
Q6V1P9	PCD23_HUMAN	1595	E	Q	Polymorphism	-
Q6V1P9	PCD23_HUMAN	897	N	S	Polymorphism	-
Q6V1P9	PCD23_HUMAN	174	H	R	Polymorphism	-
Q6V1P9	PCD23_HUMAN	2112	T	M	Polymorphism	-
Q6V1P9	PCD23_HUMAN	1205	S	L	Polymorphism	-
Q6V1P9	PCD23_HUMAN	2303	S	N	Polymorphism	-
Q6V1P9	PCD23_HUMAN	153	V	A	Polymorphism	-
Q6V1P9	PCD23_HUMAN	1480	T	R	Polymorphism	-
Q6V702	CF299_HUMAN	220	V	I	Polymorphism	-
Q6V702	CF299_HUMAN	138	T	M	Polymorphism	-
Q6V9R5	ZN562_HUMAN	205	K	E	Polymorphism	-
Q6V9R5	ZN562_HUMAN	178	F	L	Polymorphism	-
Q6V9R5	ZN562_HUMAN	260	E	K	Polymorphism	-
Q6VAB6	KSR2_HUMAN	676	R	S	Unclassified	A lung adenocarcinoma sample
Q6VMQ6	MCAF1_HUMAN	530	K	R	Polymorphism	-
Q6VMQ6	MCAF1_HUMAN	348	N	I	Polymorphism	-
Q6VMQ6	MCAF1_HUMAN	278	E	K	Polymorphism	-
Q6VVB1	NHLC1_HUMAN	33	F	S	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	46	C	Y	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	67	E	Q	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	160	C	R	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	233	D	A	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	26	C	S	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	264	P	H	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	22	S	R	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	126	L	P	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	146	D	N	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	261	L	P	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	302	Q	P	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	245	D	N	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	111	P	L	Polymorphism	-
Q6VVB1	NHLC1_HUMAN	68	C	Y	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	69	P	A	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	308	D	A	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	219	W	R	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	87	L	P	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	198	I	N	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	279	L	P	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	253	R	K	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVB1	NHLC1_HUMAN	153	I	M	Disease	Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
Q6VVX0	CP2R1_HUMAN	99	L	P	Disease	Rickets vitamin D-dependent 1B (VDDR1B) [MIM:600081]
Q6VVX0	CP2R1_HUMAN	242	K	N	Unclassified	-
Q6VY07	PACS1_HUMAN	203	R	W	Disease	Schuurs-Hoeijmakers syndrome (SHMS) [MIM:615009]
Q6VY07	PACS1_HUMAN	302	F	L	Polymorphism	-
Q6W0C5	DPPA3_HUMAN	51	E	Q	Polymorphism	-
Q6W2J9	BCOR_HUMAN	85	P	L	Disease	Microphthalmia, syndromic, 2 (MCOPS2) [MIM:300166]
Q6W3E5	GDPD4_HUMAN	383	H	Y	Polymorphism	-
Q6W3E5	GDPD4_HUMAN	220	K	R	Polymorphism	-
Q6W3E5	GDPD4_HUMAN	396	N	K	Polymorphism	-
Q6W3E5	GDPD4_HUMAN	390	I	V	Polymorphism	-
Q6W4X9	MUC6_HUMAN	1578	P	S	Polymorphism	-
Q6W4X9	MUC6_HUMAN	1794	P	T	Polymorphism	-
Q6W5P4	NPSR1_HUMAN	122	R	Q	Polymorphism	-
Q6W5P4	NPSR1_HUMAN	143	S	G	Polymorphism	-
Q6W5P4	NPSR1_HUMAN	197	C	F	Polymorphism	-
Q6W5P4	NPSR1_HUMAN	107	N	I	Polymorphism	-
Q6W5P4	NPSR1_HUMAN	344	Q	R	Polymorphism	-
Q6W5P4	NPSR1_HUMAN	241	S	R	Polymorphism	-
Q6W5P4	NPSR1_HUMAN	212	T	I	Polymorphism	-
Q6W5P4	NPSR1_HUMAN	315	I	T	Polymorphism	-
Q6WCQ1	MPRIP_HUMAN	327	P	Q	Polymorphism	-
Q6WKZ4	RFIP1_HUMAN	768	A	V	Polymorphism	-
Q6WKZ4	RFIP1_HUMAN	651	A	V	Polymorphism	-
Q6WKZ4	RFIP1_HUMAN	622	Q	K	Polymorphism	-
Q6WKZ4	RFIP1_HUMAN	1185	M	T	Polymorphism	-
Q6WN34	CRDL2_HUMAN	335	P	L	Polymorphism	-
Q6WQI6	HEPN1_HUMAN	37	W	R	Polymorphism	-
Q6WRI0	IGS10_HUMAN	150	Y	D	Polymorphism	-
Q6WRI0	IGS10_HUMAN	795	D	N	Polymorphism	-
Q6WRI0	IGS10_HUMAN	2614	D	N	Unclassified	-
Q6WRI0	IGS10_HUMAN	1370	T	I	Polymorphism	-
Q6WRI0	IGS10_HUMAN	2476	R	W	Polymorphism	-
Q6WRI0	IGS10_HUMAN	161	E	K	Disease	-
Q6WRI0	IGS10_HUMAN	156	R	L	Disease	-
Q6WRI0	IGS10_HUMAN	2264	E	G	Unclassified	-
Q6WRI0	IGS10_HUMAN	1875	Y	H	Polymorphism	-
Q6WRI0	IGS10_HUMAN	571	P	S	Polymorphism	-
Q6WRI0	IGS10_HUMAN	2579	H	Y	Polymorphism	-
Q6WRI0	IGS10_HUMAN	1199	S	A	Polymorphism	-
Q6WRI0	IGS10_HUMAN	124	T	I	Polymorphism	-
Q6X4T0	CL054_HUMAN	86	P	S	Polymorphism	-
Q6X4U4	SOSD1_HUMAN	189	Q	H	Polymorphism	-
Q6X4W1	NSMF_HUMAN	511	L	V	Polymorphism	-
Q6X4W1	NSMF_HUMAN	196	R	H	Disease	Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838]
Q6X4W1	NSMF_HUMAN	480	T	A	Disease	Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838]
Q6X784	ZPBP2_HUMAN	118	A	T	Polymorphism	-
Q6X784	ZPBP2_HUMAN	68	P	A	Polymorphism	-
Q6X784	ZPBP2_HUMAN	173	S	I	Polymorphism	-
Q6X784	ZPBP2_HUMAN	335	Q	E	Polymorphism	-
Q6X784	ZPBP2_HUMAN	69	T	I	Polymorphism	-
Q6X9E4	FBW12_HUMAN	166	R	W	Polymorphism	-
Q6X9E4	FBW12_HUMAN	6	P	L	Polymorphism	-
Q6X9E4	FBW12_HUMAN	273	V	D	Polymorphism	-
Q6XLA1	CSC2A_HUMAN	8	P	S	Unclassified	Some patients with endometrial cancer
Q6XPR3	RPTN_HUMAN	320	S	G	Polymorphism	-
Q6XPS3	TPTE2_HUMAN	367	V	I	Polymorphism	-
Q6XPS3	TPTE2_HUMAN	444	I	V	Polymorphism	-
Q6XQN6	PNCB_HUMAN	57	A	V	Polymorphism	-
Q6XR72	ZNT10_HUMAN	349	L	P	Disease	Hypermanganesemia with dystonia 1 (HMNDYT1) [MIM:613280]
Q6XR72	ZNT10_HUMAN	167	F	S	Polymorphism	-
Q6XR72	ZNT10_HUMAN	89	L	P	Disease	Hypermanganesemia with dystonia 1 (HMNDYT1) [MIM:613280]
Q6XUX3	DUSTY_HUMAN	29	R	Q	Unclassified	Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805]
Q6XUX3	DUSTY_HUMAN	432	L	V	Polymorphism	-
Q6XUX3	DUSTY_HUMAN	843	S	L	Disease	Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805]
Q6XUX3	DUSTY_HUMAN	200	D	G	Disease	Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805]
Q6XXX2	CU024_HUMAN	39	N	K	Polymorphism	-
Q6XXX2	CU024_HUMAN	52	A	S	Polymorphism	-
Q6XXX2	CU024_HUMAN	21	S	T	Polymorphism	-
Q6XXX2	CU024_HUMAN	104	M	R	Polymorphism	-
Q6XYB7	LBX2_HUMAN	158	S	F	Polymorphism	-
Q6XYQ8	SYT10_HUMAN	505	A	V	Polymorphism	-
Q6XYQ8	SYT10_HUMAN	488	H	P	Polymorphism	-
Q6XYQ8	SYT10_HUMAN	172	S	I	Polymorphism	-
Q6XYQ8	SYT10_HUMAN	420	T	S	Polymorphism	-
Q6XZB0	LIPI_HUMAN	364	G	E	Polymorphism	-
Q6XZB0	LIPI_HUMAN	431	E	K	Polymorphism	-
Q6XZB0	LIPI_HUMAN	444	D	E	Polymorphism	-
Q6XZB0	LIPI_HUMAN	55	C	Y	Disease	Hypertriglyceridemia, familial (FHTR) [MIM:145750]
Q6XZF7	DNMBP_HUMAN	81	E	D	Polymorphism	-
Q6XZF7	DNMBP_HUMAN	914	N	K	Polymorphism	-
Q6XZF7	DNMBP_HUMAN	1413	C	W	Polymorphism	-
Q6XZF7	DNMBP_HUMAN	373	N	K	Polymorphism	-
Q6Y288	B3GLT_HUMAN	370	E	K	Polymorphism	-
Q6Y7W6	GGYF2_HUMAN	273	S	C	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	519	H	Y	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	345	A	V	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	1171	H	R	Polymorphism	-
Q6Y7W6	GGYF2_HUMAN	589	R	G	Disease	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	473	P	S	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	335	S	T	Disease	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	492	E	K	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	256	E	K	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	1131	A	V	Polymorphism	-
Q6Y7W6	GGYF2_HUMAN	349	D	E	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	560	A	V	Polymorphism	-
Q6Y7W6	GGYF2_HUMAN	423	P	L	Polymorphism	-
Q6Y7W6	GGYF2_HUMAN	1070	D	H	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	377	S	Y	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	460	P	T	Polymorphism	-
Q6Y7W6	GGYF2_HUMAN	457	N	T	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	112	T	A	Disease	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	1209	L	P	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	56	N	S	Polymorphism	-
Q6Y7W6	GGYF2_HUMAN	278	I	V	Disease	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	580	L	F	Unclassified	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	1242	V	I	Disease	Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6	GGYF2_HUMAN	606	D	E	Disease	Parkinson disease 11 (PARK11) [MIM:607688]
Q6YBV0	S36A4_HUMAN	376	P	H	Polymorphism	-
Q6YBV0	S36A4_HUMAN	429	L	I	Polymorphism	-
Q6YBV0	S36A4_HUMAN	209	L	I	Polymorphism	-
Q6YHK3	CD109_HUMAN	1241	T	M	Polymorphism	-
Q6YHK3	CD109_HUMAN	797	N	S	Polymorphism	-
Q6YHK3	CD109_HUMAN	703	Y	S	Polymorphism	-
Q6YHK3	CD109_HUMAN	1065	N	K	Unclassified	A colorectal cancer sample
Q6YHK3	CD109_HUMAN	845	V	I	Polymorphism	-
Q6YHK3	CD109_HUMAN	791	D	G	Polymorphism	-
Q6YHK3	CD109_HUMAN	45	G	V	Polymorphism	-
Q6YHK3	CD109_HUMAN	1296	H	R	Polymorphism	-
Q6YHK3	CD109_HUMAN	377	G	D	Polymorphism	-
Q6YHK3	CD109_HUMAN	1007	Q	E	Unclassified	A colorectal cancer sample
Q6YHK3	CD109_HUMAN	641	L	F	Polymorphism	-
Q6YHK3	CD109_HUMAN	1009	V	M	Polymorphism	-
Q6YHU6	THADA_HUMAN	63	E	G	Polymorphism	-
Q6YHU6	THADA_HUMAN	699	V	I	Polymorphism	-
Q6YHU6	THADA_HUMAN	1385	T	S	Polymorphism	-
Q6YHU6	THADA_HUMAN	1605	C	Y	Polymorphism	-
Q6YHU6	THADA_HUMAN	1187	T	A	Polymorphism	-
Q6YHU6	THADA_HUMAN	1668	C	R	Polymorphism	-
Q6YHU6	THADA_HUMAN	1451	P	S	Polymorphism	-
Q6YP21	KAT3_HUMAN	206	S	P	Polymorphism	-
Q6ZMB5	T184A_HUMAN	18	A	V	Polymorphism	-
Q6ZMB5	T184A_HUMAN	390	S	G	Polymorphism	-
Q6ZMC9	SIG15_HUMAN	273	F	L	Polymorphism	-
Q6ZMD2	SPNS3_HUMAN	330	A	S	Polymorphism	-
Q6ZMD2	SPNS3_HUMAN	507	A	T	Unclassified	A colorectal cancer sample
Q6ZMD2	SPNS3_HUMAN	293	G	R	Polymorphism	-
Q6ZMH5	S39A5_HUMAN	304	M	T	Disease	Myopia 24, autosomal dominant (MYP24) [MIM:615946]
Q6ZMH5	S39A5_HUMAN	413	G	A	Unclassified	Myopia 24, autosomal dominant (MYP24) [MIM:615946]
Q6ZMI3	GLDN_HUMAN	265	S	N	Polymorphism	-
Q6ZMI3	GLDN_HUMAN	141	S	N	Polymorphism	-
Q6ZMI3	GLDN_HUMAN	351	D	N	Polymorphism	-
Q6ZMI3	GLDN_HUMAN	475	A	P	Disease	Lethal congenital contracture syndrome 11 (LCCS11) [MIM:617194]
Q6ZMI3	GLDN_HUMAN	32	A	E	Disease	Lethal congenital contracture syndrome 11 (LCCS11) [MIM:617194]
Q6ZMJ2	SCAR5_HUMAN	45	A	T	Polymorphism	-
Q6ZMJ2	SCAR5_HUMAN	316	D	H	Polymorphism	-
Q6ZMJ4	IL34_HUMAN	195	S	T	Polymorphism	-
Q6ZMJ4	IL34_HUMAN	123	E	Q	Polymorphism	-
Q6ZMN7	PZRN4_HUMAN	429	G	S	Polymorphism	-
Q6ZMN7	PZRN4_HUMAN	784	G	R	Unclassified	A colorectal cancer sample
Q6ZMN8	CCNI2_HUMAN	91	A	P	Polymorphism	-
Q6ZMQ8	LMTK1_HUMAN	1332	A	T	Polymorphism	-
Q6ZMQ8	LMTK1_HUMAN	923	S	L	Polymorphism	-
Q6ZMQ8	LMTK1_HUMAN	1266	F	S	Polymorphism	-
Q6ZMQ8	LMTK1_HUMAN	81	S	F	Unclassified	An ovarian mucinous carcinoma sample
Q6ZMQ8	LMTK1_HUMAN	703	G	C	Polymorphism	-
Q6ZMQ8	LMTK1_HUMAN	97	L	V	Unclassified	A lung adenocarcinoma sample
Q6ZMQ8	LMTK1_HUMAN	118	T	M	Polymorphism	-
Q6ZMQ8	LMTK1_HUMAN	1192	P	S	Polymorphism	-
Q6ZMQ8	LMTK1_HUMAN	815	S	R	Polymorphism	-
Q6ZMQ8	LMTK1_HUMAN	1160	E	K	Polymorphism	-
Q6ZMQ8	LMTK1_HUMAN	104	M	V	Unclassified	An ovarian mucinous carcinoma sample
Q6ZMR5	TM11A_HUMAN	293	R	Q	Polymorphism	-
Q6ZMS7	ZN783_HUMAN	63	R	C	Polymorphism	-
Q6ZMT4	KDM7A_HUMAN	644	R	S	Polymorphism	-
Q6ZMT9	DTHD1_HUMAN	26	G	R	Polymorphism	-
Q6ZMT9	DTHD1_HUMAN	662	R	H	Polymorphism	-
Q6ZMT9	DTHD1_HUMAN	552	R	C	Polymorphism	-
Q6ZMT9	DTHD1_HUMAN	179	V	D	Polymorphism	-
Q6ZMU1	C3P1_HUMAN	230	D	N	Polymorphism	-
Q6ZMU1	C3P1_HUMAN	262	L	R	Polymorphism	-
Q6ZMU1	C3P1_HUMAN	172	Q	R	Polymorphism	-
Q6ZMU1	C3P1_HUMAN	251	D	G	Polymorphism	-
Q6ZMV7	LEKR1_HUMAN	356	I	V	Polymorphism	-
Q6ZMV8	ZN730_HUMAN	365	G	E	Polymorphism	-
Q6ZMV9	KIF6_HUMAN	386	A	E	Unclassified	A breast cancer sample
Q6ZMV9	KIF6_HUMAN	512	R	H	Polymorphism	-
Q6ZMV9	KIF6_HUMAN	719	W	R	Polymorphism	-
Q6ZMW2	ZN782_HUMAN	246	N	S	Polymorphism	-
Q6ZMW2	ZN782_HUMAN	165	R	H	Polymorphism	-
Q6ZMW2	ZN782_HUMAN	289	T	A	Polymorphism	-
Q6ZMW2	ZN782_HUMAN	130	R	P	Polymorphism	-
Q6ZMY3	SPOC1_HUMAN	109	T	A	Polymorphism	-
Q6ZMY3	SPOC1_HUMAN	671	R	W	Unclassified	A breast cancer sample
Q6ZMY3	SPOC1_HUMAN	436	R	W	Polymorphism	-
Q6ZMY6	WDR88_HUMAN	310	C	R	Polymorphism	-
Q6ZMY6	WDR88_HUMAN	166	D	H	Unclassified	A breast cancer sample
Q6ZMY9	ZN517_HUMAN	6	P	L	Polymorphism	-
Q6ZMZ3	SYNE3_HUMAN	668	T	M	Polymorphism	-
Q6ZMZ3	SYNE3_HUMAN	946	I	V	Polymorphism	-
Q6ZMZ3	SYNE3_HUMAN	923	A	V	Polymorphism	-
Q6ZMZ3	SYNE3_HUMAN	864	R	H	Polymorphism	-
Q6ZN03	CU136_HUMAN	149	A	T	Polymorphism	-
Q6ZN03	CU136_HUMAN	116	L	F	Polymorphism	-
Q6ZN06	ZN813_HUMAN	192	Y	C	Polymorphism	-
Q6ZN06	ZN813_HUMAN	168	I	F	Polymorphism	-
Q6ZN06	ZN813_HUMAN	62	A	T	Polymorphism	-
Q6ZN06	ZN813_HUMAN	439	Y	F	Polymorphism	-
Q6ZN06	ZN813_HUMAN	231	R	K	Polymorphism	-
Q6ZN06	ZN813_HUMAN	93	D	V	Polymorphism	-
Q6ZN11	ZN793_HUMAN	68	I	M	Polymorphism	-
Q6ZN11	ZN793_HUMAN	133	I	V	Polymorphism	-
Q6ZN16	M3K15_HUMAN	226	D	H	Polymorphism	-
Q6ZN16	M3K15_HUMAN	1251	Q	E	Polymorphism	-
Q6ZN16	M3K15_HUMAN	1029	N	H	Polymorphism	-
Q6ZN16	M3K15_HUMAN	255	R	S	Unclassified	A lung squamous cell carcinoma sample
Q6ZN16	M3K15_HUMAN	494	R	C	Polymorphism	-
Q6ZN16	M3K15_HUMAN	456	S	G	Polymorphism	-
Q6ZN16	M3K15_HUMAN	199	S	N	Polymorphism	-
Q6ZN16	M3K15_HUMAN	838	G	S	Polymorphism	-
Q6ZN16	M3K15_HUMAN	993	S	L	Polymorphism	-
Q6ZN16	M3K15_HUMAN	677	R	Q	Unclassified	A metastatic melanoma sample
Q6ZN16	M3K15_HUMAN	1247	W	R	Unclassified	A colorectal adenocarcinoma sample
Q6ZN16	M3K15_HUMAN	192	A	T	Polymorphism	-
Q6ZN16	M3K15_HUMAN	562	S	L	Unclassified	A lung adenocarcinoma sample
Q6ZN28	MACC1_HUMAN	50	P	L	Polymorphism	-
Q6ZN28	MACC1_HUMAN	31	L	V	Polymorphism	-
Q6ZN28	MACC1_HUMAN	515	S	L	Polymorphism	-
Q6ZN28	MACC1_HUMAN	728	E	A	Polymorphism	-
Q6ZN28	MACC1_HUMAN	804	R	T	Polymorphism	-
Q6ZN30	BNC2_HUMAN	550	L	V	Polymorphism	-
Q6ZN30	BNC2_HUMAN	782	T	A	Polymorphism	-
Q6ZN32	ETV3L_HUMAN	263	G	A	Polymorphism	-
Q6ZN32	ETV3L_HUMAN	318	M	V	Polymorphism	-
Q6ZN32	ETV3L_HUMAN	151	R	W	Polymorphism	-
Q6ZN32	ETV3L_HUMAN	19	S	A	Polymorphism	-
Q6ZN54	DEFI8_HUMAN	90	Q	E	Polymorphism	-
Q6ZN55	ZN574_HUMAN	332	R	Q	Polymorphism	-
Q6ZN55	ZN574_HUMAN	785	R	Q	Polymorphism	-
Q6ZN55	ZN574_HUMAN	711	T	S	Polymorphism	-
Q6ZN57	ZFP2_HUMAN	113	Q	H	Polymorphism	-
Q6ZN57	ZFP2_HUMAN	142	R	G	Polymorphism	-
Q6ZN66	GBP6_HUMAN	331	A	S	Polymorphism	-
Q6ZN66	GBP6_HUMAN	520	D	V	Polymorphism	-
Q6ZN66	GBP6_HUMAN	355	M	V	Polymorphism	-
Q6ZN66	GBP6_HUMAN	278	T	I	Polymorphism	-
Q6ZN66	GBP6_HUMAN	344	L	F	Polymorphism	-
Q6ZN68	D19P2_HUMAN	66	M	V	Polymorphism	-
Q6ZN68	D19P2_HUMAN	333	N	I	Polymorphism	-
Q6ZN79	Z705A_HUMAN	126	T	A	Polymorphism	-
Q6ZN79	Z705A_HUMAN	186	R	H	Polymorphism	-
Q6ZN79	Z705A_HUMAN	142	K	Q	Polymorphism	-
Q6ZN79	Z705A_HUMAN	134	R	C	Polymorphism	-
Q6ZN84	CCD81_HUMAN	449	Y	C	Polymorphism	-
Q6ZNA1	ZN836_HUMAN	809	N	S	Polymorphism	-
Q6ZNA1	ZN836_HUMAN	219	M	I	Polymorphism	-
Q6ZNA4	RN111_HUMAN	718	A	T	Polymorphism	-
Q6ZNA4	RN111_HUMAN	9	N	K	Polymorphism	-
Q6ZNB6	NFXL1_HUMAN	246	P	L	Polymorphism	-
Q6ZNB7	ALKMO_HUMAN	280	S	Y	Polymorphism	-
Q6ZNB7	ALKMO_HUMAN	279	F	L	Polymorphism	-
Q6ZNC4	ZN704_HUMAN	35	A	S	Polymorphism	-
Q6ZNC8	MBOA1_HUMAN	450	I	V	Polymorphism	-
Q6ZNE5	BAKOR_HUMAN	131	N	K	Polymorphism	-
Q6ZNE5	BAKOR_HUMAN	59	V	I	Polymorphism	-
Q6ZNG1	ZN600_HUMAN	209	C	R	Polymorphism	-
Q6ZNG1	ZN600_HUMAN	2	M	V	Polymorphism	-
Q6ZNG1	ZN600_HUMAN	13	T	R	Polymorphism	-
Q6ZNG2	DBX2_HUMAN	171	M	V	Polymorphism	-
Q6ZNG9	KRBA2_HUMAN	435	T	M	Polymorphism	-
Q6ZNH5	ZN497_HUMAN	174	H	Q	Polymorphism	-
Q6ZNI0	GCNT7_HUMAN	425	N	H	Polymorphism	-
Q6ZNI0	GCNT7_HUMAN	352	D	E	Polymorphism	-
Q6ZNJ1	NBEL2_HUMAN	677	W	R	Disease	Gray platelet syndrome (GPS) [MIM:139090]
Q6ZNJ1	NBEL2_HUMAN	511	R	G	Polymorphism	-
Q6ZNJ1	NBEL2_HUMAN	388	L	P	Disease	Gray platelet syndrome (GPS) [MIM:139090]
Q6ZNJ1	NBEL2_HUMAN	447	R	H	Polymorphism	-
Q6ZNJ1	NBEL2_HUMAN	1877	A	G	Polymorphism	-
Q6ZNJ1	NBEL2_HUMAN	2553	G	E	Polymorphism	-
Q6ZNJ1	NBEL2_HUMAN	1833	E	K	Disease	Gray platelet syndrome (GPS) [MIM:139090]
Q6ZNJ1	NBEL2_HUMAN	643	E	V	Disease	Gray platelet syndrome (GPS) [MIM:139090]
Q6ZNJ1	NBEL2_HUMAN	682	I	F	Polymorphism	-
Q6ZNJ1	NBEL2_HUMAN	2747	E	K	Polymorphism	-
Q6ZNJ1	NBEL2_HUMAN	2054	S	F	Polymorphism	-
Q6ZNJ1	NBEL2_HUMAN	86	I	V	Polymorphism	-
Q6ZNJ1	NBEL2_HUMAN	2269	S	L	Disease	Gray platelet syndrome (GPS) [MIM:139090]
Q6ZNJ1	NBEL2_HUMAN	2263	H	Y	Disease	Gray platelet syndrome (GPS) [MIM:139090]
Q6ZNJ1	NBEL2_HUMAN	1839	R	C	Disease	Gray platelet syndrome (GPS) [MIM:139090]
Q6ZNJ1	NBEL2_HUMAN	2100	P	L	Disease	Gray platelet syndrome (GPS) [MIM:139090]
Q6ZNL6	FGD5_HUMAN	403	G	R	Polymorphism	-
Q6ZNL6	FGD5_HUMAN	941	E	K	Polymorphism	-
Q6ZNL6	FGD5_HUMAN	828	A	T	Polymorphism	-
Q6ZNQ3	LRC69_HUMAN	64	T	I	Polymorphism	-
Q6ZNW5	GDPP1_HUMAN	307	T	I	Polymorphism	-
Q6ZNW5	GDPP1_HUMAN	37	M	T	Polymorphism	-
Q6ZNW5	GDPP1_HUMAN	264	P	T	Polymorphism	-
Q6ZP01	RBM44_HUMAN	893	N	H	Polymorphism	-
Q6ZP01	RBM44_HUMAN	52	D	H	Polymorphism	-
Q6ZP01	RBM44_HUMAN	53	D	H	Polymorphism	-
Q6ZP29	LAAT1_HUMAN	16	S	N	Polymorphism	-
Q6ZP80	TM182_HUMAN	223	W	R	Polymorphism	-
Q6ZP82	CC141_HUMAN	828	R	W	Polymorphism	-
Q6ZP82	CC141_HUMAN	1170	N	S	Polymorphism	-
Q6ZP82	CC141_HUMAN	935	R	W	Polymorphism	-
Q6ZPD9	D19L3_HUMAN	350	M	V	Polymorphism	-
Q6ZQQ6	WDR87_HUMAN	1885	N	K	Polymorphism	-
Q6ZQQ6	WDR87_HUMAN	2570	H	L	Polymorphism	-
Q6ZQQ6	WDR87_HUMAN	1583	R	Q	Polymorphism	-
Q6ZQQ6	WDR87_HUMAN	496	H	Y	Polymorphism	-
Q6ZQR2	CFA77_HUMAN	172	R	W	Unclassified	A colorectal cancer sample
Q6ZQR2	CFA77_HUMAN	244	K	Q	Polymorphism	-
Q6ZQR2	CFA77_HUMAN	184	R	H	Polymorphism	-
Q6ZQR2	CFA77_HUMAN	137	G	R	Polymorphism	-
Q6ZQW0	I23O2_HUMAN	248	R	W	Polymorphism	-
Q6ZQX7	LIAT1_HUMAN	56	E	K	Polymorphism	-
Q6ZQX7	LIAT1_HUMAN	220	D	E	Polymorphism	-
Q6ZQY2	LR74B_HUMAN	77	R	C	Polymorphism	-
Q6ZQY2	LR74B_HUMAN	3	G	R	Polymorphism	-
Q6ZR08	DYH12_HUMAN	1704	Y	H	Polymorphism	-
Q6ZR08	DYH12_HUMAN	1754	K	N	Polymorphism	-
Q6ZR08	DYH12_HUMAN	32	V	A	Polymorphism	-
Q6ZR08	DYH12_HUMAN	2893	G	S	Polymorphism	-
Q6ZR08	DYH12_HUMAN	1549	D	N	Polymorphism	-
Q6ZR08	DYH12_HUMAN	1748	R	C	Polymorphism	-
Q6ZR08	DYH12_HUMAN	139	S	N	Polymorphism	-
Q6ZR08	DYH12_HUMAN	467	T	P	Polymorphism	-
Q6ZR08	DYH12_HUMAN	2740	Y	F	Polymorphism	-
Q6ZR08	DYH12_HUMAN	1763	T	I	Polymorphism	-
Q6ZR08	DYH12_HUMAN	224	D	E	Polymorphism	-
Q6ZR08	DYH12_HUMAN	231	T	A	Polymorphism	-
Q6ZR37	PKHG7_HUMAN	99	D	G	Polymorphism	-
Q6ZR37	PKHG7_HUMAN	212	M	T	Polymorphism	-
Q6ZR52	ZN493_HUMAN	292	L	V	Polymorphism	-
Q6ZR52	ZN493_HUMAN	195	C	F	Polymorphism	-
Q6ZR62	RTL4_HUMAN	162	D	Y	Polymorphism	-
Q6ZR62	RTL4_HUMAN	27	L	P	Polymorphism	-
Q6ZRC1	CD050_HUMAN	150	A	P	Unclassified	A breast cancer sample
Q6ZRC1	CD050_HUMAN	177	I	V	Polymorphism	-
Q6ZRC1	CD050_HUMAN	199	V	M	Polymorphism	-
Q6ZRC1	CD050_HUMAN	86	R	W	Polymorphism	-
Q6ZRF7	ZN818_HUMAN	14	E	K	Polymorphism	-
Q6ZRF8	RN207_HUMAN	603	G	A	Polymorphism	-
Q6ZRF8	RN207_HUMAN	539	R	C	Polymorphism	-
Q6ZRF8	RN207_HUMAN	573	N	S	Polymorphism	-
Q6ZRF8	RN207_HUMAN	421	A	T	Polymorphism	-
Q6ZRH7	CTSRG_HUMAN	650	S	R	Polymorphism	-
Q6ZRH7	CTSRG_HUMAN	1137	M	T	Polymorphism	-
Q6ZRH7	CTSRG_HUMAN	29	L	P	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	391	A	D	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	1947	T	M	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	2006	A	V	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	659	T	M	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	919	A	T	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	692	S	P	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	375	T	S	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	1646	P	L	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	1399	A	G	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	2909	W	S	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	1112	A	V	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	2116	P	L	Disease	Deafness, autosomal recessive, 18B (DFNB18B) [MIM:614945]
Q6ZRI0	OTOG_HUMAN	1129	P	L	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	1832	A	V	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	2750	R	Q	Polymorphism	-
Q6ZRI0	OTOG_HUMAN	1075	R	Q	Polymorphism	-
Q6ZRI6	CO039_HUMAN	491	G	D	Polymorphism	-
Q6ZRI6	CO039_HUMAN	945	G	D	Polymorphism	-
Q6ZRI6	CO039_HUMAN	536	S	A	Polymorphism	-
Q6ZRI6	CO039_HUMAN	119	A	P	Polymorphism	-
Q6ZRM9	YG024_HUMAN	149	A	V	Polymorphism	-
Q6ZRM9	YG024_HUMAN	205	F	L	Polymorphism	-
Q6ZRM9	YG024_HUMAN	158	V	M	Polymorphism	-
Q6ZRN7	YP029_HUMAN	108	A	G	Polymorphism	-
Q6ZRP5	YD019_HUMAN	2	R	H	Polymorphism	-
Q6ZRP7	QSOX2_HUMAN	126	K	E	Polymorphism	-
Q6ZRQ5	MMS22_HUMAN	419	N	D	Polymorphism	-
Q6ZRQ5	MMS22_HUMAN	564	T	M	Polymorphism	-
Q6ZRQ5	MMS22_HUMAN	1015	P	L	Polymorphism	-
Q6ZRQ5	MMS22_HUMAN	875	V	A	Polymorphism	-
Q6ZRS4	ITPI1_HUMAN	377	H	R	Polymorphism	-
Q6ZRS4	ITPI1_HUMAN	887	H	Y	Polymorphism	-
Q6ZRS4	ITPI1_HUMAN	32	A	D	Polymorphism	-
Q6ZRS4	ITPI1_HUMAN	490	A	V	Polymorphism	-
Q6ZRS4	ITPI1_HUMAN	809	C	Y	Polymorphism	-
Q6ZRS4	ITPI1_HUMAN	105	L	V	Unclassified	A colorectal cancer sample
Q6ZRV2	FA83H_HUMAN	557	G	C	Disease	Amelogenesis imperfecta 3A (AI3A) [MIM:130900]
Q6ZRV2	FA83H_HUMAN	201	Q	H	Polymorphism	-
Q6ZS02	DMP46_HUMAN	147	L	V	Polymorphism	-
Q6ZS11	RINL_HUMAN	402	P	L	Polymorphism	-
Q6ZS27	ZN662_HUMAN	176	N	S	Polymorphism	-
Q6ZS81	WDFY4_HUMAN	214	S	P	Polymorphism	-
Q6ZS81	WDFY4_HUMAN	944	S	F	Polymorphism	-
Q6ZS81	WDFY4_HUMAN	2527	S	N	Polymorphism	-
Q6ZS82	R9BP_HUMAN	96	A	S	Polymorphism	-
Q6ZSB9	ZBT49_HUMAN	320	Y	S	Polymorphism	-
Q6ZSB9	ZBT49_HUMAN	556	T	A	Polymorphism	-
Q6ZSB9	ZBT49_HUMAN	642	A	V	Polymorphism	-
Q6ZSB9	ZBT49_HUMAN	348	A	T	Polymorphism	-
Q6ZSC3	RBM43_HUMAN	259	I	V	Polymorphism	-
Q6ZSG2	INSY2_HUMAN	147	A	V	Polymorphism	-
Q6ZSI9	CAN12_HUMAN	287	C	R	Polymorphism	-
Q6ZSM3	MOT12_HUMAN	437	G	S	Unclassified	-
Q6ZSS7	MFSD6_HUMAN	205	R	G	Polymorphism	-
Q6ZST4	LCNL1_HUMAN	68	A	T	Polymorphism	-
Q6ZSY5	PPR3F_HUMAN	351	F	S	Polymorphism	-
Q6ZSY5	PPR3F_HUMAN	441	E	K	Polymorphism	-
Q6ZSZ5	ARHGI_HUMAN	1207	N	S	Polymorphism	-
Q6ZSZ5	ARHGI_HUMAN	940	R	Q	Polymorphism	-
Q6ZSZ5	ARHGI_HUMAN	889	Q	R	Polymorphism	-
Q6ZSZ5	ARHGI_HUMAN	458	T	A	Disease	Retinitis pigmentosa 78 (RP78) [MIM:617433]
Q6ZSZ6	TSH1_HUMAN	666	L	P	Polymorphism	-
Q6ZT07	TBCD9_HUMAN	7	E	K	Polymorphism	-
Q6ZT07	TBCD9_HUMAN	779	E	K	Polymorphism	-
Q6ZT77	ZN826_HUMAN	148	C	Y	Polymorphism	-
Q6ZT83	YR005_HUMAN	88	R	W	Polymorphism	-
Q6ZTK2	YP015_HUMAN	330	E	Q	Polymorphism	-
Q6ZTK2	YP015_HUMAN	419	W	R	Polymorphism	-
Q6ZTK2	YP015_HUMAN	368	T	A	Polymorphism	-
Q6ZTK2	YP015_HUMAN	345	V	I	Polymorphism	-
Q6ZTK2	YP015_HUMAN	183	Q	H	Polymorphism	-
Q6ZTK2	YP015_HUMAN	100	Q	R	Polymorphism	-
Q6ZTK2	YP015_HUMAN	275	V	A	Polymorphism	-
Q6ZTQ3	RASF6_HUMAN	163	S	P	Polymorphism	-
Q6ZTQ3	RASF6_HUMAN	306	A	G	Polymorphism	-
Q6ZTQ4	CDHR3_HUMAN	529	C	Y	Polymorphism	-
Q6ZTQ4	CDHR3_HUMAN	55	V	M	Polymorphism	-
Q6ZTQ4	CDHR3_HUMAN	61	Q	H	Polymorphism	-
Q6ZTR5	CFA47_HUMAN	561	A	T	Polymorphism	-
Q6ZTR5	CFA47_HUMAN	345	C	R	Polymorphism	-
Q6ZTR5	CFA47_HUMAN	634	H	Y	Polymorphism	-
Q6ZTR5	CFA47_HUMAN	236	V	M	Polymorphism	-
Q6ZTR7	FA92B_HUMAN	22	E	K	Polymorphism	-
Q6ZU35	CRAD_HUMAN	269	L	I	Polymorphism	-
Q6ZU35	CRAD_HUMAN	710	R	Q	Polymorphism	-
Q6ZU35	CRAD_HUMAN	655	R	P	Polymorphism	-
Q6ZU35	CRAD_HUMAN	249	E	Q	Polymorphism	-
Q6ZU35	CRAD_HUMAN	776	S	L	Polymorphism	-
Q6ZU52	K0408_HUMAN	331	S	L	Polymorphism	-
Q6ZU52	K0408_HUMAN	61	S	R	Polymorphism	-
Q6ZU64	CFA65_HUMAN	66	M	L	Polymorphism	-
Q6ZU64	CFA65_HUMAN	806	K	M	Polymorphism	-
Q6ZU64	CFA65_HUMAN	672	V	I	Polymorphism	-
Q6ZU64	CFA65_HUMAN	1858	N	S	Polymorphism	-
Q6ZU65	UBN2_HUMAN	1308	P	A	Polymorphism	-
Q6ZU80	CE128_HUMAN	16	R	L	Polymorphism	-
Q6ZU80	CE128_HUMAN	732	H	R	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	586	K	E	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	924	P	L	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	671	T	M	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	700	G	R	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	335	T	P	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	704	D	E	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	208	T	S	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	736	A	V	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	682	D	E	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	1202	D	G	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	1019	V	E	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	409	V	M	Polymorphism	-
Q6ZUB1	S31E1_HUMAN	1350	R	H	Polymorphism	-
Q6ZUF6	NC336_HUMAN	84	P	S	Polymorphism	-
Q6ZUF6	NC336_HUMAN	13	S	R	Polymorphism	-
Q6ZUF6	NC336_HUMAN	73	L	P	Polymorphism	-
Q6ZUJ4	CC062_HUMAN	110	E	K	Polymorphism	-
Q6ZUJ8	BCAP_HUMAN	638	K	R	Polymorphism	-
Q6ZUJ8	BCAP_HUMAN	551	E	K	Polymorphism	-
Q6ZUJ8	BCAP_HUMAN	21	E	K	Polymorphism	-
Q6ZUJ8	BCAP_HUMAN	83	A	S	Polymorphism	-
Q6ZUL3	CH086_HUMAN	81	R	H	Polymorphism	-
Q6ZUM4	RHG27_HUMAN	889	H	Q	Polymorphism	-
Q6ZUT3	FRMD7_HUMAN	271	C	F	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	281	S	L	Polymorphism	-
Q6ZUT3	FRMD7_HUMAN	271	C	S	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	266	A	P	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	226	A	T	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	142	L	R	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	212	L	P	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	229	R	C	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	306	Q	R	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	221	N	D	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	231	L	V	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	275	H	P	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	229	R	G	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	301	Y	C	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	146	R	W	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	24	G	R	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	296	G	R	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	208	H	R	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	261	R	G	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	271	C	Y	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	16	F	S	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	225	W	G	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	468	R	H	Polymorphism	-
Q6ZUT3	FRMD7_HUMAN	340	S	L	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	24	G	W	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	24	G	E	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT3	FRMD7_HUMAN	261	R	Q	Disease	Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
Q6ZUT6	CCD9B_HUMAN	189	G	E	Unclassified	A colorectal cancer sample
Q6ZUT9	DEN5B_HUMAN	52	R	K	Polymorphism	-
Q6ZUT9	DEN5B_HUMAN	487	H	N	Polymorphism	-
Q6ZUX3	TGRM2_HUMAN	265	Q	R	Polymorphism	-
Q6ZUX3	TGRM2_HUMAN	362	Q	R	Polymorphism	-
Q6ZUX3	TGRM2_HUMAN	441	I	V	Polymorphism	-
Q6ZUX3	TGRM2_HUMAN	535	V	A	Polymorphism	-
Q6ZUX3	TGRM2_HUMAN	944	G	V	Polymorphism	-
Q6ZUX3	TGRM2_HUMAN	941	T	A	Polymorphism	-
Q6ZUX3	TGRM2_HUMAN	724	R	C	Polymorphism	-
Q6ZUX3	TGRM2_HUMAN	55	A	T	Polymorphism	-
Q6ZUX7	LHPL2_HUMAN	102	I	V	Polymorphism	-
Q6ZV29	PLPL7_HUMAN	803	A	V	Polymorphism	-
Q6ZV29	PLPL7_HUMAN	1050	D	N	Polymorphism	-
Q6ZV29	PLPL7_HUMAN	387	G	S	Polymorphism	-
Q6ZV29	PLPL7_HUMAN	368	E	D	Polymorphism	-
Q6ZV29	PLPL7_HUMAN	908	P	L	Polymorphism	-
Q6ZV29	PLPL7_HUMAN	364	Q	E	Polymorphism	-
Q6ZV29	PLPL7_HUMAN	824	V	M	Polymorphism	-
Q6ZV29	PLPL7_HUMAN	993	L	M	Polymorphism	-
Q6ZV29	PLPL7_HUMAN	286	G	S	Polymorphism	-
Q6ZV29	PLPL7_HUMAN	236	R	H	Polymorphism	-
Q6ZV29	PLPL7_HUMAN	323	R	Q	Polymorphism	-
Q6ZV73	FGD6_HUMAN	257	Q	R	Polymorphism	-
Q6ZV73	FGD6_HUMAN	1393	E	K	Polymorphism	-
Q6ZV77	CI139_HUMAN	168	K	E	Polymorphism	-
Q6ZVD7	STOX1_HUMAN	608	E	D	Polymorphism	-
Q6ZVD7	STOX1_HUMAN	153	Y	H	Polymorphism	-
Q6ZVD7	STOX1_HUMAN	825	N	I	Disease	Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]
Q6ZVD7	STOX1_HUMAN	18	R	P	Disease	Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]
Q6ZVD7	STOX1_HUMAN	863	A	T	Polymorphism	-
Q6ZVF9	GRIN3_HUMAN	39	L	V	Polymorphism	-
Q6ZVF9	GRIN3_HUMAN	746	R	K	Polymorphism	-
Q6ZVF9	GRIN3_HUMAN	382	S	P	Polymorphism	-
Q6ZVF9	GRIN3_HUMAN	446	V	A	Polymorphism	-
Q6ZVF9	GRIN3_HUMAN	378	A	V	Polymorphism	-
Q6ZVF9	GRIN3_HUMAN	390	P	S	Polymorphism	-
Q6ZVH7	ESPNL_HUMAN	574	A	S	Polymorphism	-
Q6ZVH7	ESPNL_HUMAN	761	V	A	Polymorphism	-
Q6ZVH7	ESPNL_HUMAN	829	Q	R	Polymorphism	-
Q6ZVH7	ESPNL_HUMAN	568	I	V	Polymorphism	-
Q6ZVH7	ESPNL_HUMAN	167	R	Q	Polymorphism	-
Q6ZVL8	YP033_HUMAN	105	P	S	Polymorphism	-
Q6ZVL8	YP033_HUMAN	75	G	R	Polymorphism	-
Q6ZVL8	YP033_HUMAN	136	C	S	Polymorphism	-
Q6ZVL8	YP033_HUMAN	82	K	R	Polymorphism	-
Q6ZVL8	YP033_HUMAN	30	T	A	Polymorphism	-
Q6ZVN8	RGMC_HUMAN	222	I	N	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	310	A	G	Polymorphism	-
Q6ZVN8	RGMC_HUMAN	288	R	W	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	191	W	C	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	321	C	W	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	250	G	V	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	320	G	V	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	85	S	P	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	168	A	D	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	170	F	S	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	205	S	R	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	80	C	R	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	99	G	R	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	101	L	P	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVN8	RGMC_HUMAN	172	D	E	Disease	Hemochromatosis 2A (HFE2A) [MIM:602390]
Q6ZVT0	TTL10_HUMAN	249	V	A	Polymorphism	-
Q6ZVT0	TTL10_HUMAN	448	S	N	Polymorphism	-
Q6ZVT0	TTL10_HUMAN	130	A	T	Unclassified	A colorectal cancer sample
Q6ZVT0	TTL10_HUMAN	578	G	D	Polymorphism	-
Q6ZVT6	CC067_HUMAN	304	D	E	Polymorphism	-
Q6ZVT6	CC067_HUMAN	387	V	M	Polymorphism	-
Q6ZVT6	CC067_HUMAN	404	S	N	Polymorphism	-
Q6ZVT6	CC067_HUMAN	158	S	R	Polymorphism	-
Q6ZVW7	I17EL_HUMAN	70	G	R	Polymorphism	-
Q6ZVW7	I17EL_HUMAN	333	L	P	Polymorphism	-
Q6ZVZ8	ASB18_HUMAN	407	H	N	Polymorphism	-
Q6ZVZ8	ASB18_HUMAN	261	G	S	Polymorphism	-
Q6ZVZ8	ASB18_HUMAN	104	A	T	Polymorphism	-
Q6ZVZ8	ASB18_HUMAN	127	A	P	Polymorphism	-
Q6ZW31	SYDE1_HUMAN	408	R	Q	Unclassified	A pancreatic ductal adenocarcinoma sample
Q6ZW33	MICLK_HUMAN	70	V	I	Polymorphism	-
Q6ZW33	MICLK_HUMAN	305	A	T	Polymorphism	-
Q6ZW33	MICLK_HUMAN	93	Y	S	Polymorphism	-
Q6ZW33	MICLK_HUMAN	369	D	E	Polymorphism	-
Q6ZW33	MICLK_HUMAN	313	S	G	Polymorphism	-
Q6ZW33	MICLK_HUMAN	471	T	P	Polymorphism	-
Q6ZW49	PAXI1_HUMAN	1013	M	V	Polymorphism	-
Q6ZW61	BBS12_HUMAN	263	Y	H	Polymorphism	-
Q6ZW61	BBS12_HUMAN	484	R	K	Polymorphism	-
Q6ZW61	BBS12_HUMAN	289	A	P	Disease	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	346	I	T	Disease	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	408	K	R	Unclassified	-
Q6ZW61	BBS12_HUMAN	355	R	Q	Disease	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	539	G	D	Disease	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	615	A	V	Polymorphism	-
Q6ZW61	BBS12_HUMAN	429	S	T	Polymorphism	-
Q6ZW61	BBS12_HUMAN	524	Y	C	Unclassified	-
Q6ZW61	BBS12_HUMAN	674	R	C	Disease	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	540	G	V	Disease	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	195	K	R	Polymorphism	-
Q6ZW61	BBS12_HUMAN	170	I	V	Polymorphism	-
Q6ZW61	BBS12_HUMAN	88	L	R	Disease	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	501	T	M	Disease	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	525	R	H	Unclassified	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	126	E	D	Polymorphism	-
Q6ZW61	BBS12_HUMAN	238	N	K	Polymorphism	-
Q6ZW61	BBS12_HUMAN	461	N	H	Polymorphism	-
Q6ZW61	BBS12_HUMAN	467	D	N	Polymorphism	-
Q6ZW61	BBS12_HUMAN	293	Q	E	Disease	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	39	I	T	Polymorphism	-
Q6ZW61	BBS12_HUMAN	159	P	L	Unclassified	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	386	R	Q	Polymorphism	-
Q6ZW61	BBS12_HUMAN	400	V	M	Disease	Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
Q6ZW61	BBS12_HUMAN	119	G	S	Polymorphism	-
Q6ZW76	ANKS3_HUMAN	404	A	T	Polymorphism	-
Q6ZW76	ANKS3_HUMAN	593	A	T	Polymorphism	-
Q6ZWB6	KCTD8_HUMAN	329	P	L	Polymorphism	-
Q6ZWH5	NEK10_HUMAN	66	A	V	Unclassified	An ovarian mucinous carcinoma sample
Q6ZWH5	NEK10_HUMAN	701	L	V	Polymorphism	-
Q6ZWH5	NEK10_HUMAN	513	L	S	Polymorphism	-
Q6ZWH5	NEK10_HUMAN	379	E	K	Unclassified	A metastatic melanoma sample
Q6ZWH5	NEK10_HUMAN	67	G	S	Polymorphism	-
Q6ZWH5	NEK10_HUMAN	50	F	L	Polymorphism	-
Q6ZWH5	NEK10_HUMAN	659	N	S	Polymorphism	-
Q6ZWI9	RFPLB_HUMAN	234	G	D	Polymorphism	-
Q6ZWJ1	STXB4_HUMAN	120	C	R	Polymorphism	-
Q6ZWJ1	STXB4_HUMAN	92	G	R	Polymorphism	-
Q6ZWJ8	KCP_HUMAN	688	D	V	Polymorphism	-
Q6ZWJ8	KCP_HUMAN	459	K	E	Polymorphism	-
Q6ZWJ8	KCP_HUMAN	1193	P	R	Polymorphism	-
Q6ZWJ8	KCP_HUMAN	47	G	E	Polymorphism	-
Q6ZWK6	TM11F_HUMAN	124	D	N	Polymorphism	-
Q6ZWK6	TM11F_HUMAN	4	A	T	Polymorphism	-
Q6ZWL3	CP4V2_HUMAN	331	H	P	Disease	Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
Q6ZWL3	CP4V2_HUMAN	79	E	D	Disease	Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
Q6ZWL3	CP4V2_HUMAN	44	W	R	Disease	Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
Q6ZWL3	CP4V2_HUMAN	508	R	H	Disease	Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
Q6ZWL3	CP4V2_HUMAN	61	G	S	Disease	Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
Q6ZWL3	CP4V2_HUMAN	123	M	V	Disease	Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
Q6ZWL3	CP4V2_HUMAN	259	Q	K	Polymorphism	-
Q6ZWL3	CP4V2_HUMAN	443	R	Q	Polymorphism	-
Q6ZWL3	CP4V2_HUMAN	372	V	I	Polymorphism	-
Q6ZWL3	CP4V2_HUMAN	22	L	V	Polymorphism	-
Q6ZWL3	CP4V2_HUMAN	111	I	T	Disease	Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
Q6ZWL3	CP4V2_HUMAN	213	S	N	Polymorphism	-
Q6ZWL3	CP4V2_HUMAN	341	S	P	Disease	Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
Q6ZWL3	CP4V2_HUMAN	275	E	K	Polymorphism	-
Q6ZWT7	MBOA2_HUMAN	501	T	A	Polymorphism	-
Q6ZXV5	TMTC3_HUMAN	384	G	E	Disease	Lissencephaly 8 (LIS8) [MIM:617255]
Q6ZXV5	TMTC3_HUMAN	67	H	D	Disease	Lissencephaly 8 (LIS8) [MIM:617255]
Q6ZYL4	TF2H5_HUMAN	21	L	P	Disease	Trichothiodystrophy 3, photosensitive (TTD3) [MIM:616395]
Q702N8	XIRP1_HUMAN	1604	G	R	Polymorphism	-
Q702N8	XIRP1_HUMAN	1608	A	V	Polymorphism	-
Q702N8	XIRP1_HUMAN	3	D	N	Polymorphism	-
Q702N8	XIRP1_HUMAN	776	R	W	Polymorphism	-
Q702N8	XIRP1_HUMAN	1046	P	A	Polymorphism	-
Q702N8	XIRP1_HUMAN	346	Q	R	Polymorphism	-
Q702N8	XIRP1_HUMAN	695	R	C	Polymorphism	-
Q702N8	XIRP1_HUMAN	551	R	Q	Polymorphism	-
Q702N8	XIRP1_HUMAN	1707	Q	H	Polymorphism	-
Q702N8	XIRP1_HUMAN	965	H	P	Polymorphism	-
Q702N8	XIRP1_HUMAN	1724	I	V	Polymorphism	-
Q702N8	XIRP1_HUMAN	929	L	H	Unclassified	A breast cancer sample
Q702N8	XIRP1_HUMAN	1634	R	K	Unclassified	A breast cancer sample
Q702N8	XIRP1_HUMAN	1061	A	V	Polymorphism	-
Q709C8	VP13C_HUMAN	1389	G	R	Disease	Parkinson disease 23, autosomal recessive, early onset (PARK23) [MIM:616840]
Q709C8	VP13C_HUMAN	2913	S	N	Polymorphism	-
Q709C8	VP13C_HUMAN	1302	Y	C	Polymorphism	-
Q709C8	VP13C_HUMAN	153	R	H	Polymorphism	-
Q709C8	VP13C_HUMAN	974	R	K	Polymorphism	-
Q709C8	VP13C_HUMAN	1485	T	A	Polymorphism	-
Q709C8	VP13C_HUMAN	1592	S	Y	Polymorphism	-
Q709C8	VP13C_HUMAN	2322	V	M	Polymorphism	-
Q709C8	VP13C_HUMAN	1132	I	V	Polymorphism	-
Q709C8	VP13C_HUMAN	1495	I	V	Polymorphism	-
Q709C8	VP13C_HUMAN	2872	C	F	Polymorphism	-
Q709C8	VP13C_HUMAN	2808	K	R	Polymorphism	-
Q709F0	ACD11_HUMAN	362	V	L	Polymorphism	-
Q70CQ2	UBP34_HUMAN	1663	L	R	Polymorphism	-
Q70CQ2	UBP34_HUMAN	661	M	T	Polymorphism	-
Q70CQ2	UBP34_HUMAN	2348	D	N	Polymorphism	-
Q70CQ3	UBP30_HUMAN	357	H	R	Polymorphism	-
Q70CQ4	UBP31_HUMAN	552	A	T	Polymorphism	-
Q70CQ4	UBP31_HUMAN	445	D	Y	Polymorphism	-
Q70CQ4	UBP31_HUMAN	532	Q	H	Polymorphism	-
Q70CQ4	UBP31_HUMAN	538	I	T	Polymorphism	-
Q70CQ4	UBP31_HUMAN	1309	R	C	Polymorphism	-
Q70CQ4	UBP31_HUMAN	1269	D	N	Polymorphism	-
Q70CQ4	UBP31_HUMAN	931	R	L	Polymorphism	-
Q70E73	RAPH1_HUMAN	1228	T	A	Unclassified	A breast cancer sample
Q70E73	RAPH1_HUMAN	891	A	S	Unclassified	A breast cancer sample
Q70EK8	UBP53_HUMAN	962	S	R	Polymorphism	-
Q70EL1	UBP54_HUMAN	976	K	E	Polymorphism	-
Q70EL1	UBP54_HUMAN	1367	G	D	Polymorphism	-
Q70EL1	UBP54_HUMAN	1231	D	N	Polymorphism	-
Q70EL1	UBP54_HUMAN	505	L	V	Unclassified	A breast cancer sample
Q70EL2	UBP45_HUMAN	778	N	S	Polymorphism	-
Q70EL2	UBP45_HUMAN	521	R	T	Polymorphism	-
Q70EL2	UBP45_HUMAN	67	K	E	Polymorphism	-
Q70HW3	SAMC_HUMAN	148	V	G	Disease	Combined oxidative phosphorylation deficiency 28 (COXPD28) [MIM:616794]
Q70HW3	SAMC_HUMAN	41	S	N	Polymorphism	-
Q70HW3	SAMC_HUMAN	102	A	V	Disease	Combined oxidative phosphorylation deficiency 28 (COXPD28) [MIM:616794]
Q70HW3	SAMC_HUMAN	199	P	L	Disease	Combined oxidative phosphorylation deficiency 28 (COXPD28) [MIM:616794]
Q70HW3	SAMC_HUMAN	208	T	M	Polymorphism	-
Q70J99	UN13D_HUMAN	858	H	Q	Polymorphism	-
Q70J99	UN13D_HUMAN	59	A	T	Polymorphism	-
Q70J99	UN13D_HUMAN	867	K	E	Polymorphism	-
Q70JA7	CHSS3_HUMAN	615	G	E	Polymorphism	-
Q70JA7	CHSS3_HUMAN	764	D	G	Polymorphism	-
Q70SY1	CR3L2_HUMAN	130	V	I	Polymorphism	-
Q70UQ0	IKIP_HUMAN	265	G	S	Polymorphism	-
Q70YC4	TALAN_HUMAN	62	T	A	Polymorphism	-
Q70YC5	ZN365_HUMAN	337	A	S	Polymorphism	-
Q70Z35	PREX2_HUMAN	1571	A	E	Unclassified	A colorectal cancer sample
Q70Z35	PREX2_HUMAN	537	V	I	Unclassified	A colorectal cancer sample
Q70Z35	PREX2_HUMAN	312	D	N	Polymorphism	-
Q70Z44	5HT3D_HUMAN	171	A	G	Polymorphism	-
Q70Z44	5HT3D_HUMAN	435	R	H	Polymorphism	-
Q70Z44	5HT3D_HUMAN	225	R	H	Polymorphism	-
Q70Z53	F10C1_HUMAN	78	T	R	Polymorphism	-
Q70Z53	F10C1_HUMAN	16	R	H	Polymorphism	-
Q70Z53	F10C1_HUMAN	251	S	F	Polymorphism	-
Q711Q0	CEFIP_HUMAN	883	D	N	Polymorphism	-
Q711Q0	CEFIP_HUMAN	208	N	K	Polymorphism	-
Q711Q0	CEFIP_HUMAN	666	H	Q	Polymorphism	-
Q711Q0	CEFIP_HUMAN	698	F	S	Polymorphism	-
Q711Q0	CEFIP_HUMAN	320	R	L	Polymorphism	-
Q711Q0	CEFIP_HUMAN	958	F	Y	Polymorphism	-
Q711Q0	CEFIP_HUMAN	741	D	G	Polymorphism	-
Q711Q0	CEFIP_HUMAN	461	D	A	Polymorphism	-
Q711Q0	CEFIP_HUMAN	1254	V	I	Polymorphism	-
Q711Q0	CEFIP_HUMAN	522	V	G	Polymorphism	-
Q711Q0	CEFIP_HUMAN	1084	G	A	Polymorphism	-
Q711Q0	CEFIP_HUMAN	1337	G	S	Polymorphism	-
Q719H9	KCTD1_HUMAN	31	P	S	Disease	Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9	KCTD1_HUMAN	33	H	P	Disease	Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9	KCTD1_HUMAN	107	L	W	Polymorphism	-
Q719H9	KCTD1_HUMAN	30	A	E	Disease	Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9	KCTD1_HUMAN	74	H	P	Disease	Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9	KCTD1_HUMAN	31	P	L	Disease	Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9	KCTD1_HUMAN	62	G	D	Disease	Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9	KCTD1_HUMAN	31	P	R	Disease	Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9	KCTD1_HUMAN	33	H	Q	Disease	Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719I0	AHSA2_HUMAN	248	M	T	Unclassified	A breast cancer sample
Q71DI3	H32_HUMAN	128	A	V	Polymorphism	-
Q71DI3	H32_HUMAN	91	M	T	Polymorphism	-
Q71F23	CENPU_HUMAN	16	G	R	Polymorphism	-
Q71F23	CENPU_HUMAN	157	I	T	Polymorphism	-
Q71F23	CENPU_HUMAN	16	G	S	Polymorphism	-
Q71F23	CENPU_HUMAN	214	I	M	Polymorphism	-
Q71F23	CENPU_HUMAN	279	A	T	Polymorphism	-
Q71F56	MD13L_HUMAN	251	E	G	Disease	Transposition of the great arteries dextro-looped 1 (DTGA1) [MIM:608808]
Q71F56	MD13L_HUMAN	2023	D	G	Disease	Transposition of the great arteries dextro-looped 1 (DTGA1) [MIM:608808]
Q71F56	MD13L_HUMAN	1872	R	H	Disease	Transposition of the great arteries dextro-looped 1 (DTGA1) [MIM:608808]
Q71H61	ILDR2_HUMAN	202	V	I	Polymorphism	-
Q71RC2	LARP4_HUMAN	502	N	T	Polymorphism	-
Q71RC2	LARP4_HUMAN	351	F	L	Polymorphism	-
Q71RG4	TMUB2_HUMAN	228	R	H	Polymorphism	-
Q71RS6	NCKX5_HUMAN	111	T	A	Polymorphism	-
Q71SY5	MED25_HUMAN	39	Y	C	Disease	Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) [MIM:616449]
Q71SY5	MED25_HUMAN	140	R	W	Unclassified	-
Q71SY5	MED25_HUMAN	335	A	V	Disease	Charcot-Marie-Tooth disease 2B2 (CMT2B2) [MIM:605589]
Q71U36	TBA1A_HUMAN	263	P	T	Disease	Lissencephaly 3 (LIS3) [MIM:611603]
Q71U36	TBA1A_HUMAN	419	S	L	Disease	Lissencephaly 3 (LIS3) [MIM:611603]
Q71U36	TBA1A_HUMAN	447	E	K	Polymorphism	-
Q71U36	TBA1A_HUMAN	188	I	L	Disease	Lissencephaly 3 (LIS3) [MIM:611603]
Q71U36	TBA1A_HUMAN	402	R	H	Disease	Lissencephaly 3 (LIS3) [MIM:611603]
Q71U36	TBA1A_HUMAN	402	R	L	Disease	Lissencephaly 3 (LIS3) [MIM:611603]
Q71U36	TBA1A_HUMAN	286	L	F	Disease	Lissencephaly 3 (LIS3) [MIM:611603]
Q71U36	TBA1A_HUMAN	402	R	C	Disease	Lissencephaly 3 (LIS3) [MIM:611603]
Q71U36	TBA1A_HUMAN	264	R	C	Disease	Lissencephaly 3 (LIS3) [MIM:611603]
Q71UI9	H2AV_HUMAN	125	Q	R	Polymorphism	-
Q75LS8	FKB9L_HUMAN	125	V	G	Polymorphism	-
Q75MW2	ZN767_HUMAN	31	H	R	Polymorphism	-
Q75MW2	ZN767_HUMAN	38	Q	R	Polymorphism	-
Q75MW2	ZN767_HUMAN	131	A	T	Polymorphism	-
Q75MW2	ZN767_HUMAN	134	T	A	Polymorphism	-
Q75N90	FBN3_HUMAN	1966	H	D	Polymorphism	-
Q75N90	FBN3_HUMAN	1209	Q	R	Polymorphism	-
Q75N90	FBN3_HUMAN	119	G	A	Polymorphism	-
Q75N90	FBN3_HUMAN	1850	E	K	Polymorphism	-
Q75N90	FBN3_HUMAN	329	P	L	Polymorphism	-
Q75N90	FBN3_HUMAN	2005	N	T	Polymorphism	-
Q75N90	FBN3_HUMAN	1293	S	N	Polymorphism	-
Q75N90	FBN3_HUMAN	1904	L	F	Polymorphism	-
Q75N90	FBN3_HUMAN	868	D	N	Polymorphism	-
Q75N90	FBN3_HUMAN	1293	S	G	Polymorphism	-
Q75N90	FBN3_HUMAN	1904	L	P	Polymorphism	-
Q75N90	FBN3_HUMAN	473	R	Q	Polymorphism	-
Q75N90	FBN3_HUMAN	1431	N	I	Polymorphism	-
Q75N90	FBN3_HUMAN	1939	T	N	Polymorphism	-
Q75N90	FBN3_HUMAN	2471	R	H	Polymorphism	-
Q75N90	FBN3_HUMAN	1614	G	S	Polymorphism	-
Q75N90	FBN3_HUMAN	2610	E	D	Polymorphism	-
Q75N90	FBN3_HUMAN	2314	S	N	Polymorphism	-
Q75N90	FBN3_HUMAN	2594	V	I	Polymorphism	-
Q75N90	FBN3_HUMAN	542	V	I	Polymorphism	-
Q75N90	FBN3_HUMAN	2540	H	Q	Polymorphism	-
Q75N90	FBN3_HUMAN	371	M	I	Polymorphism	-
Q75N90	FBN3_HUMAN	938	V	F	Polymorphism	-
Q75N90	FBN3_HUMAN	1083	R	W	Polymorphism	-
Q75N90	FBN3_HUMAN	1958	P	H	Polymorphism	-
Q75N90	FBN3_HUMAN	662	D	N	Polymorphism	-
Q75N90	FBN3_HUMAN	1869	N	K	Polymorphism	-
Q75N90	FBN3_HUMAN	1326	V	I	Polymorphism	-
Q75N90	FBN3_HUMAN	935	R	L	Polymorphism	-
Q75N90	FBN3_HUMAN	1806	R	Q	Polymorphism	-
Q75V66	ANO5_HUMAN	206	T	A	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	266	P	L	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	758	R	C	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	804	C	S	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	547	R	Q	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	143	Y	C	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	506	S	G	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	655	W	C	Unclassified	Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319]
Q75V66	ANO5_HUMAN	356	C	G	Disease	Gnathodiaphyseal dysplasia (GDD) [MIM:166260]
Q75V66	ANO5_HUMAN	758	R	C	Unclassified	Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319]
Q75V66	ANO5_HUMAN	52	N	S	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	54	F	S	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	58	R	W	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	900	M	L	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	265	N	S	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	93	D	E	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	513	T	I	Unclassified	Gnathodiaphyseal dysplasia (GDD) [MIM:166260]
Q75V66	ANO5_HUMAN	259	K	N	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	781	L	P	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	618	M	I	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	231	G	V	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	356	C	R	Disease	Gnathodiaphyseal dysplasia (GDD) [MIM:166260]
Q75V66	ANO5_HUMAN	322	L	F	Polymorphism	-
Q75V66	ANO5_HUMAN	714	T	S	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	356	C	Y	Disease	Gnathodiaphyseal dysplasia (GDD) [MIM:166260]
Q75V66	ANO5_HUMAN	87	V	I	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	267	T	S	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	796	S	L	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	833	M	K	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	839	M	R	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	882	N	K	Polymorphism	-
Q75V66	ANO5_HUMAN	202	E	K	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	555	S	I	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	830	A	V	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	578	F	S	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75V66	ANO5_HUMAN	404	R	L	Unclassified	Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]
Q75WM6	H1FNT_HUMAN	84	R	G	Polymorphism	-
Q75WM6	H1FNT_HUMAN	136	R	S	Polymorphism	-
Q75WM6	H1FNT_HUMAN	237	S	F	Polymorphism	-
Q75WM6	H1FNT_HUMAN	174	R	Q	Polymorphism	-
Q75WM6	H1FNT_HUMAN	108	L	P	Polymorphism	-
Q75WM6	H1FNT_HUMAN	195	R	Q	Polymorphism	-
Q765I0	UTS2B_HUMAN	21	S	I	Polymorphism	-
Q76EJ3	S35D2_HUMAN	184	A	S	Polymorphism	-
Q76FK4	NOL8_HUMAN	748	V	L	Polymorphism	-
Q76FK4	NOL8_HUMAN	841	D	E	Polymorphism	-
Q76FK4	NOL8_HUMAN	988	E	D	Polymorphism	-
Q76FK4	NOL8_HUMAN	1021	G	S	Polymorphism	-
Q76FK4	NOL8_HUMAN	470	G	E	Polymorphism	-
Q76G19	PDZD4_HUMAN	39	R	C	Unclassified	A breast cancer sample
Q76I76	SSH2_HUMAN	743	S	L	Polymorphism	-
Q76I76	SSH2_HUMAN	763	V	A	Polymorphism	-
Q76I76	SSH2_HUMAN	1300	H	Q	Polymorphism	-
Q76KP1	B4GN4_HUMAN	67	A	V	Polymorphism	-
Q76KP1	B4GN4_HUMAN	88	G	V	Polymorphism	-
Q76L83	ASXL2_HUMAN	796	A	V	Polymorphism	-
Q76L83	ASXL2_HUMAN	1242	T	P	Polymorphism	-
Q76L83	ASXL2_HUMAN	1210	T	P	Polymorphism	-
Q76L83	ASXL2_HUMAN	731	L	P	Polymorphism	-
Q76LX8	ATS13_HUMAN	908	C	S	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	525	G	D	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	353	P	L	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	740	E	K	Polymorphism	-
Q76LX8	ATS13_HUMAN	1314	S	L	Polymorphism	-
Q76LX8	ATS13_HUMAN	671	P	L	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	1060	R	W	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	1219	R	W	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	596	A	V	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	1239	G	V	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	475	P	S	Polymorphism	-
Q76LX8	ATS13_HUMAN	528	R	G	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	456	Q	H	Polymorphism	-
Q76LX8	ATS13_HUMAN	908	C	Y	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	349	R	C	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	606	A	P	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	339	T	R	Polymorphism	-
Q76LX8	ATS13_HUMAN	1213	C	Y	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	1095	R	W	Polymorphism	-
Q76LX8	ATS13_HUMAN	900	A	V	Polymorphism	-
Q76LX8	ATS13_HUMAN	982	G	R	Polymorphism	-
Q76LX8	ATS13_HUMAN	96	H	D	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	507	R	Q	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	448	Q	E	Polymorphism	-
Q76LX8	ATS13_HUMAN	625	R	H	Polymorphism	-
Q76LX8	ATS13_HUMAN	508	C	Y	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	88	V	M	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	658	Y	C	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	250	A	V	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	1024	C	G	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	398	R	H	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	732	A	V	Polymorphism	-
Q76LX8	ATS13_HUMAN	457	P	L	Polymorphism	-
Q76LX8	ATS13_HUMAN	1336	R	W	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	196	T	I	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	193	R	W	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	178	I	T	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	1123	R	C	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	758	C	R	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	1226	T	I	Polymorphism	-
Q76LX8	ATS13_HUMAN	347	C	S	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	102	R	C	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	119	S	F	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	7	R	W	Polymorphism	-
Q76LX8	ATS13_HUMAN	1033	A	T	Polymorphism	-
Q76LX8	ATS13_HUMAN	390	W	C	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	268	R	P	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	951	C	G	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	234	H	Q	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	263	S	C	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	692	R	C	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	673	I	F	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	903	S	L	Polymorphism	-
Q76LX8	ATS13_HUMAN	618	P	A	Polymorphism	-
Q76LX8	ATS13_HUMAN	304	Y	C	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	311	C	Y	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	232	L	Q	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	79	I	M	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	203	S	P	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8	ATS13_HUMAN	235	D	H	Disease	Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76MJ5	ERN2_HUMAN	410	L	F	Polymorphism	-
Q76MJ5	ERN2_HUMAN	504	L	F	Polymorphism	-
Q76MJ5	ERN2_HUMAN	858	H	Y	Polymorphism	-
Q76MJ5	ERN2_HUMAN	271	R	Q	Polymorphism	-
Q76MJ5	ERN2_HUMAN	69	V	I	Polymorphism	-
Q76MJ5	ERN2_HUMAN	318	A	T	Polymorphism	-
Q76MJ5	ERN2_HUMAN	118	R	C	Polymorphism	-
Q76MJ5	ERN2_HUMAN	487	S	T	Polymorphism	-
Q76MJ5	ERN2_HUMAN	184	R	C	Polymorphism	-
Q76MJ5	ERN2_HUMAN	537	R	Q	Polymorphism	-
Q76N32	CEP68_HUMAN	27	R	G	Polymorphism	-
Q76N32	CEP68_HUMAN	462	R	C	Polymorphism	-
Q76N32	CEP68_HUMAN	473	E	Q	Polymorphism	-
Q76N32	CEP68_HUMAN	397	L	P	Polymorphism	-
Q76N32	CEP68_HUMAN	74	G	S	Polymorphism	-
Q76NI1	KNDC1_HUMAN	717	L	P	Polymorphism	-
Q76NI1	KNDC1_HUMAN	1332	A	T	Polymorphism	-
Q76NI1	KNDC1_HUMAN	581	G	S	Polymorphism	-
Q76NI1	KNDC1_HUMAN	436	E	G	Polymorphism	-
Q76NI1	KNDC1_HUMAN	1038	R	W	Polymorphism	-
Q7KYR7	BT2A1_HUMAN	178	W	L	Polymorphism	-
Q7KYR7	BT2A1_HUMAN	451	G	A	Polymorphism	-
Q7KYR7	BT2A1_HUMAN	178	W	C	Polymorphism	-
Q7KYR7	BT2A1_HUMAN	378	R	Q	Polymorphism	-
Q7KYR7	BT2A1_HUMAN	207	V	M	Polymorphism	-
Q7KYR7	BT2A1_HUMAN	124	R	C	Polymorphism	-
Q7KZN9	COX15_HUMAN	217	R	W	Disease	Leigh syndrome (LS) [MIM:256000]
Q7KZN9	COX15_HUMAN	344	S	P	Disease	Leigh syndrome (LS) [MIM:256000]
Q7KZN9	COX15_HUMAN	217	R	W	Disease	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) [MIM:615119]
Q7L014	DDX46_HUMAN	207	E	Q	Polymorphism	-
Q7L0Q8	RHOU_HUMAN	121	T	A	Polymorphism	-
Q7L0X0	TRIL_HUMAN	369	G	D	Polymorphism	-
Q7L0X0	TRIL_HUMAN	240	N	S	Polymorphism	-
Q7L0X0	TRIL_HUMAN	666	G	R	Polymorphism	-
Q7L0X0	TRIL_HUMAN	347	A	T	Polymorphism	-
Q7L0X2	ERIP6_HUMAN	604	R	H	Polymorphism	-
Q7L0X2	ERIP6_HUMAN	9	G	V	Polymorphism	-
Q7L0X2	ERIP6_HUMAN	433	G	R	Polymorphism	-
Q7L0Y3	TM10C_HUMAN	164	K	N	Polymorphism	-
Q7L0Y3	TM10C_HUMAN	56	P	R	Polymorphism	-
Q7L0Y3	TM10C_HUMAN	181	R	L	Disease	Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974]
Q7L0Y3	TM10C_HUMAN	272	T	A	Disease	Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974]
Q7L190	DPPA4_HUMAN	55	I	V	Polymorphism	-
Q7L190	DPPA4_HUMAN	226	S	F	Polymorphism	-
Q7L1S5	CHST9_HUMAN	378	N	S	Polymorphism	-
Q7L1S5	CHST9_HUMAN	122	S	N	Polymorphism	-
Q7L1T6	NB5R4_HUMAN	187	Q	R	Polymorphism	-
Q7L1T6	NB5R4_HUMAN	371	D	Y	Unclassified	A breast cancer sample
Q7L1T6	NB5R4_HUMAN	390	L	M	Unclassified	A breast cancer sample
Q7L1T6	NB5R4_HUMAN	316	P	S	Polymorphism	-
Q7L1T6	NB5R4_HUMAN	282	S	P	Polymorphism	-
Q7L1T6	NB5R4_HUMAN	223	H	R	Polymorphism	-
Q7L1T6	NB5R4_HUMAN	267	P	A	Polymorphism	-
Q7L1T6	NB5R4_HUMAN	140	R	H	Polymorphism	-
Q7L1W4	LRC8D_HUMAN	371	S	Y	Polymorphism	-
Q7L266	ASGL1_HUMAN	178	G	R	Unclassified	-
Q7L2E3	DHX30_HUMAN	781	G	D	Disease	Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
Q7L2E3	DHX30_HUMAN	782	R	W	Disease	Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
Q7L2E3	DHX30_HUMAN	785	R	C	Disease	Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
Q7L2E3	DHX30_HUMAN	562	H	R	Disease	Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
Q7L2E3	DHX30_HUMAN	785	R	H	Disease	Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
Q7L2E3	DHX30_HUMAN	493	R	H	Disease	Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
Q7L2H7	EIF3M_HUMAN	346	Q	R	Polymorphism	-
Q7L2H7	EIF3M_HUMAN	37	G	R	Polymorphism	-
Q7L2H7	EIF3M_HUMAN	80	E	G	Unclassified	A breast cancer sample
Q7L2K0	TEDC2_HUMAN	346	R	K	Polymorphism	-
Q7L2R6	ZN765_HUMAN	389	S	G	Polymorphism	-
Q7L2Z9	CENPQ_HUMAN	266	D	G	Polymorphism	-
Q7L2Z9	CENPQ_HUMAN	63	G	R	Polymorphism	-
Q7L3B6	CD37L_HUMAN	291	S	F	Polymorphism	-
Q7L3S4	ZN771_HUMAN	207	D	N	Polymorphism	-
Q7L3T8	SYPM_HUMAN	28	R	S	Polymorphism	-
Q7L3T8	SYPM_HUMAN	235	N	S	Polymorphism	-
Q7L3V2	BOP_HUMAN	116	R	H	Polymorphism	-
Q7L3V2	BOP_HUMAN	123	D	Y	Polymorphism	-
Q7L4E1	MIGA2_HUMAN	100	V	A	Polymorphism	-
Q7L4E1	MIGA2_HUMAN	78	E	K	Polymorphism	-
Q7L4E1	MIGA2_HUMAN	212	G	S	Polymorphism	-
Q7L4I2	RSRC2_HUMAN	88	H	R	Polymorphism	-
Q7L513	FCRLA_HUMAN	349	R	Q	Polymorphism	-
Q7L576	CYFP1_HUMAN	820	G	S	Polymorphism	-
Q7L576	CYFP1_HUMAN	532	A	P	Polymorphism	-
Q7L576	CYFP1_HUMAN	820	G	D	Polymorphism	-
Q7L590	MCM10_HUMAN	134	K	R	Polymorphism	-
Q7L590	MCM10_HUMAN	541	T	S	Polymorphism	-
Q7L590	MCM10_HUMAN	195	A	P	Polymorphism	-
Q7L590	MCM10_HUMAN	669	K	R	Polymorphism	-
Q7L590	MCM10_HUMAN	418	A	V	Polymorphism	-
Q7L591	DOK3_HUMAN	12	R	P	Polymorphism	-
Q7L591	DOK3_HUMAN	22	G	R	Polymorphism	-
Q7L592	NDUF7_HUMAN	39	P	A	Polymorphism	-
Q7L592	NDUF7_HUMAN	266	D	E	Disease	-
Q7L5A8	FA2H_HUMAN	97	P	A	Polymorphism	-
Q7L5A8	FA2H_HUMAN	235	R	C	Disease	Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]
Q7L5A8	FA2H_HUMAN	35	D	Y	Disease	Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]
Q7L5A8	FA2H_HUMAN	154	R	C	Disease	Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]
Q7L5N7	PCAT2_HUMAN	163	M	I	Polymorphism	-
Q7L5Y1	ENOF1_HUMAN	31	D	E	Polymorphism	-
Q7L5Y1	ENOF1_HUMAN	145	M	T	Polymorphism	-
Q7L5Y1	ENOF1_HUMAN	428	Y	S	Polymorphism	-
Q7L5Y9	MAEA_HUMAN	34	R	C	Polymorphism	-
Q7L622	G2E3_HUMAN	232	R	H	Polymorphism	-
Q7L775	EPMIP_HUMAN	360	A	S	Polymorphism	-
Q7L775	EPMIP_HUMAN	333	V	F	Polymorphism	-
Q7L7V1	DHX32_HUMAN	430	V	L	Polymorphism	-
Q7L7V1	DHX32_HUMAN	301	D	A	Polymorphism	-
Q7L7V1	DHX32_HUMAN	271	E	D	Polymorphism	-
Q7L7V1	DHX32_HUMAN	209	P	R	Unclassified	A breast cancer sample
Q7L7X3	TAOK1_HUMAN	855	A	T	Polymorphism	-
Q7L804	RFIP2_HUMAN	152	F	V	Polymorphism	-
Q7L8L6	FAKD5_HUMAN	256	R	C	Polymorphism	-
Q7L8L6	FAKD5_HUMAN	377	I	V	Polymorphism	-
Q7L8L6	FAKD5_HUMAN	288	I	T	Polymorphism	-
Q7L8W6	DPH6_HUMAN	236	P	R	Polymorphism	-
Q7L8W6	DPH6_HUMAN	41	G	E	Polymorphism	-
Q7L985	LIGO2_HUMAN	507	R	H	Polymorphism	-
Q7L9B9	EEPD1_HUMAN	358	A	S	Polymorphism	-
Q7L9B9	EEPD1_HUMAN	343	S	N	Polymorphism	-
Q7L9B9	EEPD1_HUMAN	416	P	S	Polymorphism	-
Q7LBC6	KDM3B_HUMAN	1201	S	N	Polymorphism	-
Q7LBC6	KDM3B_HUMAN	256	A	T	Polymorphism	-
Q7LBE3	S26A9_HUMAN	384	I	T	Polymorphism	-
Q7LBE3	S26A9_HUMAN	70	Y	N	Polymorphism	-
Q7LBE3	S26A9_HUMAN	622	V	L	Polymorphism	-
Q7LBE3	S26A9_HUMAN	127	T	N	Polymorphism	-
Q7LBE3	S26A9_HUMAN	606	P	L	Polymorphism	-
Q7LBE3	S26A9_HUMAN	748	H	R	Polymorphism	-
Q7LBE3	S26A9_HUMAN	575	R	W	Polymorphism	-
Q7LBE3	S26A9_HUMAN	744	V	M	Polymorphism	-
Q7LDG7	GRP2_HUMAN	305	G	D	Disease	Bleeding disorder, platelet-type 18 (BDPLT18) [MIM:615888]
Q7LDG7	GRP2_HUMAN	381	S	F	Disease	Bleeding disorder, platelet-type 18 (BDPLT18) [MIM:615888]
Q7LDG7	GRP2_HUMAN	296	C	Y	Disease	Bleeding disorder, platelet-type 18 (BDPLT18) [MIM:615888]
Q7LDG7	GRP2_HUMAN	493	G	A	Polymorphism	-
Q7LDG7	GRP2_HUMAN	248	G	W	Disease	Bleeding disorder, platelet-type 18 (BDPLT18) [MIM:615888]
Q7LG56	RIR2B_HUMAN	64	W	R	Disease	Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
Q7LG56	RIR2B_HUMAN	317	L	V	Disease	Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
Q7LG56	RIR2B_HUMAN	115	V	L	Unclassified	Colorectal adenocarcinomas cell line
Q7LG56	RIR2B_HUMAN	282	M	I	Disease	Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
Q7LG56	RIR2B_HUMAN	224	I	S	Disease	Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
Q7LG56	RIR2B_HUMAN	33	P	S	Unclassified	-
Q7LG56	RIR2B_HUMAN	121	R	H	Disease	Mitochondrial DNA depletion syndrome 8B (MTDPS8B) [MIM:612075]
Q7LG56	RIR2B_HUMAN	194	E	K	Disease	Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
Q7LG56	RIR2B_HUMAN	110	R	H	Disease	Mitochondrial DNA depletion syndrome 8B (MTDPS8B) [MIM:612075]
Q7LG56	RIR2B_HUMAN	236	C	F	Disease	Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
Q7LG56	RIR2B_HUMAN	194	E	G	Disease	Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
Q7LGC8	CHST3_HUMAN	372	E	K	Disease	Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]
Q7LGC8	CHST3_HUMAN	222	R	W	Disease	Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]
Q7LGC8	CHST3_HUMAN	357	R	Q	Polymorphism	-
Q7LGC8	CHST3_HUMAN	307	L	P	Disease	Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]
Q7LGC8	CHST3_HUMAN	348	I	M	Polymorphism	-
Q7LGC8	CHST3_HUMAN	304	R	Q	Disease	Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]
Q7LGC8	CHST3_HUMAN	259	L	P	Disease	Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]
Q7RTM1	OTOP1_HUMAN	434	V	M	Polymorphism	-
Q7RTM1	OTOP1_HUMAN	493	K	T	Polymorphism	-
Q7RTM1	OTOP1_HUMAN	309	D	E	Polymorphism	-
Q7RTM1	OTOP1_HUMAN	516	Q	H	Polymorphism	-
Q7RTM1	OTOP1_HUMAN	241	I	V	Polymorphism	-
Q7RTN6	STRAA_HUMAN	64	P	S	Polymorphism	-
Q7RTN6	STRAA_HUMAN	60	S	I	Polymorphism	-
Q7RTN6	STRAA_HUMAN	13	R	W	Polymorphism	-
Q7RTP0	NIPA1_HUMAN	106	G	R	Disease	Spastic paraplegia 6, autosomal dominant (SPG6) [MIM:600363]
Q7RTP0	NIPA1_HUMAN	45	T	R	Disease	Spastic paraplegia 6, autosomal dominant (SPG6) [MIM:600363]
Q7RTP6	MICA3_HUMAN	11	P	A	Polymorphism	-
Q7RTP6	MICA3_HUMAN	750	M	L	Polymorphism	-
Q7RTP6	MICA3_HUMAN	745	R	Q	Polymorphism	-
Q7RTR0	NLRP9_HUMAN	425	G	D	Unclassified	A breast cancer sample
Q7RTR2	NLRC3_HUMAN	567	V	M	Polymorphism	-
Q7RTR8	T2R42_HUMAN	255	G	W	Polymorphism	-
Q7RTR8	T2R42_HUMAN	196	F	S	Polymorphism	-
Q7RTR8	T2R42_HUMAN	265	Y	C	Polymorphism	-
Q7RTR8	T2R42_HUMAN	175	Y	F	Polymorphism	-
Q7RTR8	T2R42_HUMAN	311	A	P	Polymorphism	-
Q7RTR8	T2R42_HUMAN	292	R	Q	Polymorphism	-
Q7RTS3	PTF1A_HUMAN	263	S	P	Polymorphism	-
Q7RTS5	OTOP3_HUMAN	146	R	Q	Polymorphism	-
Q7RTS5	OTOP3_HUMAN	199	S	P	Polymorphism	-
Q7RTS5	OTOP3_HUMAN	64	R	Q	Polymorphism	-
Q7RTS5	OTOP3_HUMAN	477	L	V	Polymorphism	-
Q7RTS6	OTOP2_HUMAN	392	A	V	Unclassified	A colorectal cancer sample
Q7RTS6	OTOP2_HUMAN	465	G	W	Polymorphism	-
Q7RTS7	K2C74_HUMAN	165	N	K	Polymorphism	-
Q7RTS7	K2C74_HUMAN	424	E	K	Polymorphism	-
Q7RTS7	K2C74_HUMAN	271	E	D	Polymorphism	-
Q7RTS7	K2C74_HUMAN	274	F	S	Disease	Ectodermal dysplasia 7, hair/nail type (ECTD7) [MIM:614929]
Q7RTS7	K2C74_HUMAN	392	R	Q	Polymorphism	-
Q7RTS7	K2C74_HUMAN	148	N	K	Disease	Woolly hair autosomal dominant (ADWH) [MIM:194300]
Q7RTS7	K2C74_HUMAN	178	L	Q	Polymorphism	-
Q7RTS7	K2C74_HUMAN	482	D	N	Disease	Hypotrichosis 3 (HYPT3) [MIM:613981]
Q7RTS9	DYM_HUMAN	87	E	K	Disease	Smith-McCort dysplasia 1 (SMC1) [MIM:607326]
Q7RTS9	DYM_HUMAN	542	C	R	Disease	Smith-McCort dysplasia 1 (SMC1) [MIM:607326]
Q7RTS9	DYM_HUMAN	469	N	Y	Disease	Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]
Q7RTT3	SSX9_HUMAN	72	C	R	Polymorphism	-
Q7RTT3	SSX9_HUMAN	97	S	P	Polymorphism	-
Q7RTT5	SSX7_HUMAN	43	L	S	Polymorphism	-
Q7RTT6	SSX6_HUMAN	138	K	Q	Polymorphism	-
Q7RTT6	SSX6_HUMAN	90	R	C	Polymorphism	-
Q7RTT9	S29A4_HUMAN	429	P	T	Polymorphism	-
Q7RTT9	S29A4_HUMAN	79	V	E	Polymorphism	-
Q7RTT9	S29A4_HUMAN	124	N	K	Polymorphism	-
Q7RTU1	TCF23_HUMAN	25	R	Q	Polymorphism	-
Q7RTU1	TCF23_HUMAN	40	T	S	Polymorphism	-
Q7RTU4	BHA09_HUMAN	73	R	P	Disease	Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432]
Q7RTU4	BHA09_HUMAN	74	E	L	Unclassified	Camptosynpolydactyly, complex (CCSPD) [MIM:607539]
Q7RTU4	BHA09_HUMAN	75	R	L	Disease	Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432]
Q7RTU4	BHA09_HUMAN	71	N	D	Disease	Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432]
Q7RTU9	STRC_HUMAN	1640	L	F	Polymorphism	-
Q7RTV2	GSTA5_HUMAN	55	V	I	Polymorphism	-
Q7RTV5	PXL2C_HUMAN	83	R	K	Polymorphism	-
Q7RTX0	TS1R3_HUMAN	757	C	R	Polymorphism	-
Q7RTX1	TS1R1_HUMAN	372	A	T	Polymorphism	-
Q7RTX1	TS1R1_HUMAN	347	K	E	Polymorphism	-
Q7RTX1	TS1R1_HUMAN	507	R	Q	Polymorphism	-
Q7RTX7	CTSR4_HUMAN	77	Q	R	Polymorphism	-
Q7RTX7	CTSR4_HUMAN	293	I	V	Polymorphism	-
Q7RTX7	CTSR4_HUMAN	124	L	F	Polymorphism	-
Q7RTX7	CTSR4_HUMAN	436	D	N	Polymorphism	-
Q7RTY1	MOT9_HUMAN	203	A	V	Polymorphism	-
Q7RTY1	MOT9_HUMAN	461	D	E	Polymorphism	-
Q7RTY1	MOT9_HUMAN	258	T	K	Polymorphism	-
Q7RTY5	PRS48_HUMAN	53	C	Y	Polymorphism	-
Q7RTY5	PRS48_HUMAN	118	L	S	Polymorphism	-
Q7RTY5	PRS48_HUMAN	290	R	C	Polymorphism	-
Q7RTY7	OVCH1_HUMAN	672	S	F	Polymorphism	-
Q7RTY7	OVCH1_HUMAN	444	I	T	Polymorphism	-
Q7RTY7	OVCH1_HUMAN	133	R	C	Polymorphism	-
Q7RTY7	OVCH1_HUMAN	881	P	A	Polymorphism	-
Q7RTY7	OVCH1_HUMAN	330	K	E	Polymorphism	-
Q7RTY7	OVCH1_HUMAN	754	G	R	Polymorphism	-
Q7RTY7	OVCH1_HUMAN	228	W	G	Polymorphism	-
Q7RTY7	OVCH1_HUMAN	934	P	S	Polymorphism	-
Q7RTY7	OVCH1_HUMAN	557	L	V	Polymorphism	-
Q7RTY9	PRS41_HUMAN	286	S	G	Polymorphism	-
Q7RTZ1	OVCH2_HUMAN	19	R	Q	Polymorphism	-
Q7RTZ1	OVCH2_HUMAN	410	N	Y	Polymorphism	-
Q7RTZ1	OVCH2_HUMAN	381	G	E	Polymorphism	-
Q7RTZ1	OVCH2_HUMAN	539	T	I	Polymorphism	-
Q7RTZ1	OVCH2_HUMAN	413	R	G	Polymorphism	-
Q7RTZ1	OVCH2_HUMAN	292	P	S	Polymorphism	-
Q7RTZ1	OVCH2_HUMAN	410	N	T	Polymorphism	-
Q7RTZ1	OVCH2_HUMAN	526	H	Q	Polymorphism	-
Q7RTZ1	OVCH2_HUMAN	24	T	A	Polymorphism	-
Q7Z2D5	PLPR4_HUMAN	32	A	V	Polymorphism	-
Q7Z2D5	PLPR4_HUMAN	2	Q	K	Polymorphism	-
Q7Z2E3	APTX_HUMAN	211	K	Q	Disease	Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
Q7Z2E3	APTX_HUMAN	277	V	G	Disease	Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
Q7Z2E3	APTX_HUMAN	220	P	L	Disease	Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
Q7Z2E3	APTX_HUMAN	213	R	H	Disease	Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
Q7Z2E3	APTX_HUMAN	281	D	G	Disease	Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
Q7Z2E3	APTX_HUMAN	212	A	V	Disease	Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
Q7Z2E3	APTX_HUMAN	237	L	P	Disease	Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
Q7Z2E3	APTX_HUMAN	215	H	R	Disease	Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
Q7Z2E3	APTX_HUMAN	293	W	R	Disease	Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
Q7Z2G1	H2BWT_HUMAN	123	R	H	Polymorphism	-
Q7Z2G1	H2BWT_HUMAN	87	R	W	Polymorphism	-
Q7Z2H8	S36A1_HUMAN	362	F	L	Polymorphism	-
Q7Z2K6	ERMP1_HUMAN	44	S	N	Polymorphism	-
Q7Z2K8	GRIN1_HUMAN	337	G	A	Polymorphism	-
Q7Z2K8	GRIN1_HUMAN	121	P	T	Polymorphism	-
Q7Z2K8	GRIN1_HUMAN	300	M	V	Polymorphism	-
Q7Z2K8	GRIN1_HUMAN	357	S	P	Polymorphism	-
Q7Z2W4	ZCCHV_HUMAN	851	T	I	Polymorphism	-
Q7Z2W4	ZCCHV_HUMAN	485	R	K	Polymorphism	-
Q7Z2W4	ZCCHV_HUMAN	701	Q	E	Polymorphism	-
Q7Z2W4	ZCCHV_HUMAN	565	H	Q	Polymorphism	-
Q7Z2W7	TRPM8_HUMAN	821	N	S	Polymorphism	-
Q7Z2W7	TRPM8_HUMAN	251	Y	C	Polymorphism	-
Q7Z2W7	TRPM8_HUMAN	247	R	T	Polymorphism	-
Q7Z2W7	TRPM8_HUMAN	462	M	T	Polymorphism	-
Q7Z2W7	TRPM8_HUMAN	732	T	I	Polymorphism	-
Q7Z2W7	TRPM8_HUMAN	419	S	N	Polymorphism	-
Q7Z2X7	PAGE2_HUMAN	5	L	V	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	1471	G	A	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	424	S	C	Unclassified	A breast infiltrating ductal carcinoma sample
Q7Z2Y5	NRK_HUMAN	358	V	M	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	579	E	G	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	971	D	G	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	1276	H	L	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	880	I	L	Unclassified	A colorectal adenocarcinoma sample
Q7Z2Y5	NRK_HUMAN	727	R	H	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	1472	M	L	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	679	E	G	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	1121	A	P	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	993	A	E	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	355	Q	H	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	1106	P	S	Polymorphism	-
Q7Z2Y5	NRK_HUMAN	426	P	A	Polymorphism	-
Q7Z2Z1	TICRR_HUMAN	923	S	C	Polymorphism	-
Q7Z2Z1	TICRR_HUMAN	628	R	C	Polymorphism	-
Q7Z2Z1	TICRR_HUMAN	1523	R	C	Polymorphism	-
Q7Z2Z1	TICRR_HUMAN	287	R	C	Polymorphism	-
Q7Z2Z1	TICRR_HUMAN	1885	R	C	Polymorphism	-
Q7Z2Z1	TICRR_HUMAN	747	V	A	Polymorphism	-
Q7Z2Z1	TICRR_HUMAN	402	R	W	Polymorphism	-
Q7Z2Z1	TICRR_HUMAN	1718	S	T	Polymorphism	-
Q7Z2Z2	EFL1_HUMAN	711	K	R	Polymorphism	-
Q7Z2Z2	EFL1_HUMAN	478	E	D	Polymorphism	-
Q7Z2Z2	EFL1_HUMAN	617	I	V	Polymorphism	-
Q7Z2Z2	EFL1_HUMAN	882	M	K	Unclassified	Shwachman-Diamond syndrome 2 (SDS2) [MIM:617941]
Q7Z2Z2	EFL1_HUMAN	1095	R	Q	Unclassified	Shwachman-Diamond syndrome 2 (SDS2) [MIM:617941]
Q7Z304	MAMC2_HUMAN	646	V	A	Polymorphism	-
Q7Z304	MAMC2_HUMAN	294	S	N	Polymorphism	-
Q7Z333	SETX_HUMAN	2587	I	V	Polymorphism	-
Q7Z333	SETX_HUMAN	1294	R	C	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	413	P	L	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	1855	T	P	Polymorphism	-
Q7Z333	SETX_HUMAN	1756	F	S	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	274	M	I	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	496	P	L	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	1331	P	L	Polymorphism	-
Q7Z333	SETX_HUMAN	1061	P	L	Polymorphism	-
Q7Z333	SETX_HUMAN	1252	G	R	Polymorphism	-
Q7Z333	SETX_HUMAN	2612	S	G	Polymorphism	-
Q7Z333	SETX_HUMAN	603	N	D	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	1855	T	A	Polymorphism	-
Q7Z333	SETX_HUMAN	274	M	V	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	2229	M	T	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	1976	L	R	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	389	L	S	Disease	Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
Q7Z333	SETX_HUMAN	2136	R	H	Disease	Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
Q7Z333	SETX_HUMAN	2213	P	L	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	2029	K	E	Disease	Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
Q7Z333	SETX_HUMAN	1554	C	G	Disease	Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
Q7Z333	SETX_HUMAN	1152	F	C	Polymorphism	-
Q7Z333	SETX_HUMAN	1192	D	E	Polymorphism	-
Q7Z333	SETX_HUMAN	1221	K	N	Polymorphism	-
Q7Z333	SETX_HUMAN	3	T	I	Disease	Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
Q7Z333	SETX_HUMAN	2547	I	T	Disease	Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
Q7Z333	SETX_HUMAN	653	Q	K	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	331	I	K	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	332	R	W	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	1386	I	V	Polymorphism	-
Q7Z333	SETX_HUMAN	2368	P	R	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	305	W	C	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
Q7Z333	SETX_HUMAN	660	A	G	Polymorphism	-
Q7Z333	SETX_HUMAN	992	K	R	Polymorphism	-
Q7Z340	ZN551_HUMAN	218	N	S	Polymorphism	-
Q7Z340	ZN551_HUMAN	550	R	W	Polymorphism	-
Q7Z353	HDX_HUMAN	397	F	S	Polymorphism	-
Q7Z353	HDX_HUMAN	193	A	T	Polymorphism	-
Q7Z392	TPC11_HUMAN	381	P	A	Unclassified	-
Q7Z392	TPC11_HUMAN	980	G	R	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 18 (LGMDR18) [MIM:615356]
Q7Z392	TPC11_HUMAN	1104	T	A	Unclassified	-
Q7Z398	ZN550_HUMAN	359	I	T	Polymorphism	-
Q7Z3B0	SIM15_HUMAN	23	L	F	Polymorphism	-
Q7Z3B3	KANL1_HUMAN	1010	P	L	Polymorphism	-
Q7Z3B3	KANL1_HUMAN	225	N	D	Polymorphism	-
Q7Z3B3	KANL1_HUMAN	718	S	P	Polymorphism	-
Q7Z3B3	KANL1_HUMAN	221	T	I	Polymorphism	-
Q7Z3B3	KANL1_HUMAN	1085	I	T	Polymorphism	-
Q7Z3B3	KANL1_HUMAN	104	K	T	Polymorphism	-
Q7Z3C6	ATG9A_HUMAN	592	S	G	Polymorphism	-
Q7Z3C6	ATG9A_HUMAN	659	Q	H	Polymorphism	-
Q7Z3D6	GLUCM_HUMAN	10	R	C	Polymorphism	-
Q7Z3D6	GLUCM_HUMAN	502	D	N	Polymorphism	-
Q7Z3D6	GLUCM_HUMAN	507	D	N	Polymorphism	-
Q7Z3D6	GLUCM_HUMAN	372	A	T	Polymorphism	-
Q7Z3D6	GLUCM_HUMAN	583	G	D	Polymorphism	-
Q7Z3D6	GLUCM_HUMAN	237	S	N	Polymorphism	-
Q7Z3E1	PARPT_HUMAN	406	R	S	Polymorphism	-
Q7Z3E2	CC186_HUMAN	179	R	Q	Polymorphism	-
Q7Z3E2	CC186_HUMAN	85	T	I	Polymorphism	-
Q7Z3E2	CC186_HUMAN	271	Q	K	Polymorphism	-
Q7Z3E5	ARMC9_HUMAN	69	G	R	Unclassified	Joubert syndrome 30 (JBTS30) [MIM:617622]
Q7Z3E5	ARMC9_HUMAN	492	G	R	Unclassified	Joubert syndrome 30 (JBTS30) [MIM:617622]
Q7Z3E5	ARMC9_HUMAN	343	R	C	Unclassified	Joubert syndrome 30 (JBTS30) [MIM:617622]
Q7Z3E5	ARMC9_HUMAN	209	I	T	Polymorphism	-
Q7Z3E5	ARMC9_HUMAN	330	D	N	Polymorphism	-
Q7Z3E5	ARMC9_HUMAN	108	L	F	Polymorphism	-
Q7Z3E5	ARMC9_HUMAN	222	R	H	Polymorphism	-
Q7Z3E5	ARMC9_HUMAN	520	P	L	Unclassified	Joubert syndrome 30 (JBTS30) [MIM:617622]
Q7Z3E5	ARMC9_HUMAN	446	R	C	Unclassified	Joubert syndrome 30 (JBTS30) [MIM:617622]
Q7Z3E5	ARMC9_HUMAN	180	I	V	Polymorphism	-
Q7Z3G6	PRIC2_HUMAN	153	V	I	Unclassified	-
Q7Z3G6	PRIC2_HUMAN	148	R	H	Unclassified	-
Q7Z3G6	PRIC2_HUMAN	605	V	F	Unclassified	-
Q7Z3H0	PANKY_HUMAN	257	Q	R	Polymorphism	-
Q7Z3H0	PANKY_HUMAN	313	T	N	Polymorphism	-
Q7Z3H0	PANKY_HUMAN	140	Y	F	Polymorphism	-
Q7Z3H4	SAMD7_HUMAN	220	E	D	Polymorphism	-
Q7Z3I7	ZN572_HUMAN	380	G	E	Polymorphism	-
Q7Z3I7	ZN572_HUMAN	448	S	C	Polymorphism	-
Q7Z3I7	ZN572_HUMAN	512	C	F	Unclassified	A colorectal cancer sample
Q7Z3I7	ZN572_HUMAN	317	K	T	Polymorphism	-
Q7Z3I7	ZN572_HUMAN	500	V	I	Polymorphism	-
Q7Z3J2	VP35L_HUMAN	32	Y	C	Polymorphism	-
Q7Z3J2	VP35L_HUMAN	186	N	I	Polymorphism	-
Q7Z3J2	VP35L_HUMAN	506	A	V	Polymorphism	-
Q7Z3K3	POGZ_HUMAN	1365	E	D	Polymorphism	-
Q7Z3K3	POGZ_HUMAN	1040	E	K	Disease	-
Q7Z3K6	MIER3_HUMAN	414	N	K	Polymorphism	-
Q7Z3K6	MIER3_HUMAN	126	D	G	Polymorphism	-
Q7Z3K6	MIER3_HUMAN	530	N	S	Polymorphism	-
Q7Z3K6	MIER3_HUMAN	432	N	D	Polymorphism	-
Q7Z3S7	CA2D4_HUMAN	869	T	M	Polymorphism	-
Q7Z3S7	CA2D4_HUMAN	863	R	H	Polymorphism	-
Q7Z3S7	CA2D4_HUMAN	327	I	V	Polymorphism	-
Q7Z3S9	NT2NA_HUMAN	226	E	Q	Polymorphism	-
Q7Z3S9	NT2NA_HUMAN	158	T	I	Polymorphism	-
Q7Z3S9	NT2NA_HUMAN	67	S	P	Polymorphism	-
Q7Z3S9	NT2NA_HUMAN	196	T	S	Polymorphism	-
Q7Z3T1	OR2W3_HUMAN	196	E	D	Polymorphism	-
Q7Z3T1	OR2W3_HUMAN	275	M	T	Polymorphism	-
Q7Z3T1	OR2W3_HUMAN	272	M	K	Polymorphism	-
Q7Z3T1	OR2W3_HUMAN	179	R	C	Polymorphism	-
Q7Z3T1	OR2W3_HUMAN	190	V	I	Polymorphism	-
Q7Z3T1	OR2W3_HUMAN	169	C	S	Polymorphism	-
Q7Z3T1	OR2W3_HUMAN	142	R	W	Polymorphism	-
Q7Z3T8	ZFY16_HUMAN	192	I	T	Polymorphism	-
Q7Z3T8	ZFY16_HUMAN	1055	S	G	Polymorphism	-
Q7Z3T8	ZFY16_HUMAN	35	A	E	Polymorphism	-
Q7Z3T8	ZFY16_HUMAN	380	A	V	Polymorphism	-
Q7Z3T8	ZFY16_HUMAN	598	I	T	Polymorphism	-
Q7Z3T8	ZFY16_HUMAN	1519	T	N	Polymorphism	-
Q7Z3U7	MON2_HUMAN	548	A	T	Polymorphism	-
Q7Z3V4	UBE3B_HUMAN	346	R	Q	Polymorphism	-
Q7Z3V4	UBE3B_HUMAN	727	Q	P	Disease	Kaufman oculocerebrofacial syndrome (KOS) [MIM:244450]
Q7Z3V5	ZN571_HUMAN	189	Q	H	Polymorphism	-
Q7Z3V5	ZN571_HUMAN	170	K	M	Polymorphism	-
Q7Z3V5	ZN571_HUMAN	573	L	H	Polymorphism	-
Q7Z3V5	ZN571_HUMAN	593	K	E	Polymorphism	-
Q7Z3V5	ZN571_HUMAN	252	E	D	Polymorphism	-
Q7Z3Y7	K1C28_HUMAN	52	G	D	Polymorphism	-
Q7Z3Y7	K1C28_HUMAN	62	A	V	Polymorphism	-
Q7Z3Y7	K1C28_HUMAN	286	A	T	Polymorphism	-
Q7Z3Y8	K1C27_HUMAN	284	A	T	Polymorphism	-
Q7Z3Y8	K1C27_HUMAN	144	E	K	Polymorphism	-
Q7Z3Y8	K1C27_HUMAN	193	G	S	Polymorphism	-
Q7Z3Y8	K1C27_HUMAN	52	S	T	Polymorphism	-
Q7Z3Y8	K1C27_HUMAN	305	I	T	Polymorphism	-
Q7Z3Y9	K1C26_HUMAN	118	W	R	Polymorphism	-
Q7Z3Z0	K1C25_HUMAN	376	L	R	Disease	Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760]
Q7Z3Z0	K1C25_HUMAN	238	V	L	Disease	Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760]
Q7Z3Z0	K1C25_HUMAN	317	L	P	Disease	Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760]
Q7Z3Z0	K1C25_HUMAN	54	S	L	Polymorphism	-
Q7Z3Z2	RD3_HUMAN	23	E	D	Polymorphism	-
Q7Z3Z2	RD3_HUMAN	6	W	R	Polymorphism	-
Q7Z3Z2	RD3_HUMAN	35	G	R	Polymorphism	-
Q7Z3Z2	RD3_HUMAN	130	K	M	Polymorphism	-
Q7Z3Z2	RD3_HUMAN	47	R	C	Polymorphism	-
Q7Z3Z2	RD3_HUMAN	57	G	V	Polymorphism	-
Q7Z3Z2	RD3_HUMAN	195	D	V	Polymorphism	-
Q7Z3Z2	RD3_HUMAN	167	R	K	Polymorphism	-
Q7Z3Z2	RD3_HUMAN	68	R	W	Polymorphism	-
Q7Z3Z3	PIWL3_HUMAN	375	P	S	Polymorphism	-
Q7Z3Z3	PIWL3_HUMAN	186	P	L	Polymorphism	-
Q7Z3Z3	PIWL3_HUMAN	412	C	R	Polymorphism	-
Q7Z3Z3	PIWL3_HUMAN	418	V	M	Polymorphism	-
Q7Z3Z3	PIWL3_HUMAN	471	V	I	Polymorphism	-
Q7Z3Z3	PIWL3_HUMAN	589	R	C	Polymorphism	-
Q7Z3Z4	PIWL4_HUMAN	370	A	P	Polymorphism	-
Q7Z3Z4	PIWL4_HUMAN	327	Q	L	Polymorphism	-
Q7Z3Z4	PIWL4_HUMAN	167	K	R	Polymorphism	-
Q7Z3Z4	PIWL4_HUMAN	78	Q	R	Polymorphism	-
Q7Z401	MYCPP_HUMAN	284	L	P	Polymorphism	-
Q7Z402	TMC7_HUMAN	254	G	E	Polymorphism	-
Q7Z402	TMC7_HUMAN	355	T	S	Polymorphism	-
Q7Z402	TMC7_HUMAN	635	T	I	Polymorphism	-
Q7Z402	TMC7_HUMAN	59	R	W	Polymorphism	-
Q7Z403	TMC6_HUMAN	125	W	R	Polymorphism	-
Q7Z403	TMC6_HUMAN	191	G	D	Polymorphism	-
Q7Z403	TMC6_HUMAN	153	L	F	Polymorphism	-
Q7Z404	TMC4_HUMAN	17	G	E	Polymorphism	-
Q7Z404	TMC4_HUMAN	689	Q	E	Polymorphism	-
Q7Z406	MYH14_HUMAN	1209	A	E	Polymorphism	-
Q7Z406	MYH14_HUMAN	120	S	L	Disease	Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]
Q7Z406	MYH14_HUMAN	334	P	A	Polymorphism	-
Q7Z406	MYH14_HUMAN	1559	N	S	Polymorphism	-
Q7Z406	MYH14_HUMAN	726	R	S	Disease	Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]
Q7Z406	MYH14_HUMAN	376	G	C	Disease	Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]
Q7Z406	MYH14_HUMAN	1154	A	V	Polymorphism	-
Q7Z406	MYH14_HUMAN	976	L	F	Disease	Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]
Q7Z406	MYH14_HUMAN	933	R	L	Disease	Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369]
Q7Z406	MYH14_HUMAN	266	I	V	Polymorphism	-
Q7Z406	MYH14_HUMAN	1540	V	I	Polymorphism	-
Q7Z407	CSMD3_HUMAN	3621	N	H	Polymorphism	-
Q7Z407	CSMD3_HUMAN	3000	V	L	Polymorphism	-
Q7Z407	CSMD3_HUMAN	3079	R	H	Unclassified	A colorectal cancer sample
Q7Z407	CSMD3_HUMAN	2020	S	C	Unclassified	-
Q7Z407	CSMD3_HUMAN	219	I	M	Polymorphism	-
Q7Z407	CSMD3_HUMAN	322	W	G	Unclassified	A colorectal cancer sample
Q7Z407	CSMD3_HUMAN	3359	R	Q	Unclassified	A colorectal cancer sample
Q7Z408	CSMD2_HUMAN	538	H	R	Polymorphism	-
Q7Z408	CSMD2_HUMAN	3406	S	F	Polymorphism	-
Q7Z408	CSMD2_HUMAN	2661	L	V	Polymorphism	-
Q7Z408	CSMD2_HUMAN	2661	L	R	Polymorphism	-
Q7Z408	CSMD2_HUMAN	2554	M	V	Polymorphism	-
Q7Z408	CSMD2_HUMAN	2096	R	K	Polymorphism	-
Q7Z408	CSMD2_HUMAN	167	L	P	Polymorphism	-
Q7Z408	CSMD2_HUMAN	2117	A	V	Polymorphism	-
Q7Z410	TMPS9_HUMAN	456	A	T	Polymorphism	-
Q7Z410	TMPS9_HUMAN	659	S	T	Polymorphism	-
Q7Z410	TMPS9_HUMAN	73	R	W	Polymorphism	-
Q7Z410	TMPS9_HUMAN	4	T	A	Polymorphism	-
Q7Z410	TMPS9_HUMAN	30	S	T	Polymorphism	-
Q7Z410	TMPS9_HUMAN	793	S	N	Polymorphism	-
Q7Z410	TMPS9_HUMAN	938	E	K	Polymorphism	-
Q7Z412	PEX26_HUMAN	98	R	W	Disease	Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873]
Q7Z412	PEX26_HUMAN	153	L	V	Polymorphism	-
Q7Z412	PEX26_HUMAN	45	L	P	Disease	Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873]
Q7Z412	PEX26_HUMAN	89	G	R	Disease	Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872]
Q7Z412	PEX26_HUMAN	98	R	W	Disease	Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872]
Q7Z418	KCNKI_HUMAN	255	E	K	Polymorphism	-
Q7Z418	KCNKI_HUMAN	231	S	P	Polymorphism	-
Q7Z418	KCNKI_HUMAN	34	A	V	Polymorphism	-
Q7Z418	KCNKI_HUMAN	233	A	V	Polymorphism	-
Q7Z418	KCNKI_HUMAN	58	F	Y	Polymorphism	-
Q7Z418	KCNKI_HUMAN	346	V	I	Polymorphism	-
Q7Z418	KCNKI_HUMAN	198	A	G	Polymorphism	-
Q7Z429	LFG1_HUMAN	107	S	N	Polymorphism	-
Q7Z434	MAVS_HUMAN	409	S	F	Polymorphism	-
Q7Z434	MAVS_HUMAN	198	Q	K	Polymorphism	-
Q7Z434	MAVS_HUMAN	79	C	S	Polymorphism	-
Q7Z434	MAVS_HUMAN	93	Q	E	Polymorphism	-
Q7Z434	MAVS_HUMAN	79	C	F	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1527	A	V	Polymorphism	-
Q7Z442	PK1L2_HUMAN	2139	S	F	Polymorphism	-
Q7Z442	PK1L2_HUMAN	2055	A	T	Polymorphism	-
Q7Z442	PK1L2_HUMAN	2046	P	L	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1867	M	V	Polymorphism	-
Q7Z442	PK1L2_HUMAN	462	L	V	Polymorphism	-
Q7Z442	PK1L2_HUMAN	156	V	I	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1251	G	W	Polymorphism	-
Q7Z442	PK1L2_HUMAN	120	Q	L	Polymorphism	-
Q7Z442	PK1L2_HUMAN	416	K	Q	Polymorphism	-
Q7Z442	PK1L2_HUMAN	863	A	V	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1331	I	V	Polymorphism	-
Q7Z442	PK1L2_HUMAN	849	R	H	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1330	N	D	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1048	T	A	Polymorphism	-
Q7Z442	PK1L2_HUMAN	20	V	A	Polymorphism	-
Q7Z442	PK1L2_HUMAN	2209	S	R	Polymorphism	-
Q7Z442	PK1L2_HUMAN	711	L	P	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1042	M	V	Polymorphism	-
Q7Z442	PK1L2_HUMAN	205	G	R	Polymorphism	-
Q7Z442	PK1L2_HUMAN	162	C	S	Polymorphism	-
Q7Z442	PK1L2_HUMAN	2119	L	I	Polymorphism	-
Q7Z442	PK1L2_HUMAN	999	Q	H	Polymorphism	-
Q7Z442	PK1L2_HUMAN	173	L	S	Polymorphism	-
Q7Z442	PK1L2_HUMAN	998	R	C	Polymorphism	-
Q7Z442	PK1L2_HUMAN	221	E	G	Polymorphism	-
Q7Z442	PK1L2_HUMAN	636	R	H	Polymorphism	-
Q7Z442	PK1L2_HUMAN	183	V	I	Polymorphism	-
Q7Z442	PK1L2_HUMAN	785	G	C	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1335	A	D	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1326	S	P	Polymorphism	-
Q7Z442	PK1L2_HUMAN	2315	M	I	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1739	A	V	Polymorphism	-
Q7Z442	PK1L2_HUMAN	73	W	R	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1616	Q	R	Polymorphism	-
Q7Z442	PK1L2_HUMAN	407	N	S	Polymorphism	-
Q7Z442	PK1L2_HUMAN	77	K	N	Polymorphism	-
Q7Z442	PK1L2_HUMAN	301	P	A	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1848	G	R	Polymorphism	-
Q7Z442	PK1L2_HUMAN	919	L	M	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1665	S	Y	Polymorphism	-
Q7Z442	PK1L2_HUMAN	169	V	M	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1081	G	V	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1645	M	V	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1406	T	M	Polymorphism	-
Q7Z442	PK1L2_HUMAN	252	R	W	Polymorphism	-
Q7Z442	PK1L2_HUMAN	2036	Q	R	Polymorphism	-
Q7Z442	PK1L2_HUMAN	129	G	D	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1036	L	P	Polymorphism	-
Q7Z442	PK1L2_HUMAN	512	P	L	Polymorphism	-
Q7Z442	PK1L2_HUMAN	1701	Q	H	Polymorphism	-
Q7Z443	PK1L3_HUMAN	120	I	F	Polymorphism	-
Q7Z443	PK1L3_HUMAN	593	V	M	Polymorphism	-
Q7Z443	PK1L3_HUMAN	571	H	Q	Polymorphism	-
Q7Z443	PK1L3_HUMAN	471	A	D	Polymorphism	-
Q7Z443	PK1L3_HUMAN	211	S	P	Polymorphism	-
Q7Z443	PK1L3_HUMAN	274	K	E	Polymorphism	-
Q7Z443	PK1L3_HUMAN	1176	S	R	Polymorphism	-
Q7Z443	PK1L3_HUMAN	1474	Y	C	Polymorphism	-
Q7Z443	PK1L3_HUMAN	903	V	I	Polymorphism	-
Q7Z443	PK1L3_HUMAN	429	T	S	Polymorphism	-
Q7Z449	CP2U1_HUMAN	380	E	G	Disease	Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030]
Q7Z449	CP2U1_HUMAN	262	C	R	Disease	Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030]
Q7Z449	CP2U1_HUMAN	488	R	W	Disease	Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030]
Q7Z449	CP2U1_HUMAN	316	D	V	Disease	Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030]
Q7Z460	CLAP1_HUMAN	233	I	T	Polymorphism	-
Q7Z465	BNIPL_HUMAN	226	S	N	Polymorphism	-
Q7Z465	BNIPL_HUMAN	65	S	N	Polymorphism	-
Q7Z478	DHX29_HUMAN	309	D	A	Polymorphism	-
Q7Z478	DHX29_HUMAN	630	P	H	Polymorphism	-
Q7Z494	NPHP3_HUMAN	1141	L	P	Disease	Nephronophthisis 3 (NPHP3) [MIM:604387]
Q7Z494	NPHP3_HUMAN	1221	A	V	Disease	Nephronophthisis 3 (NPHP3) [MIM:604387]
Q7Z494	NPHP3_HUMAN	1305	R	C	Polymorphism	-
Q7Z494	NPHP3_HUMAN	1314	S	T	Disease	Nephronophthisis 3 (NPHP3) [MIM:604387]
Q7Z494	NPHP3_HUMAN	1252	S	R	Disease	Nephronophthisis 3 (NPHP3) [MIM:604387]
Q7Z494	NPHP3_HUMAN	360	S	T	Disease	Nephronophthisis 3 (NPHP3) [MIM:604387]
Q7Z494	NPHP3_HUMAN	386	N	S	Disease	Nephronophthisis 3 (NPHP3) [MIM:604387]
Q7Z494	NPHP3_HUMAN	397	R	H	Disease	Nephronophthisis 3 (NPHP3) [MIM:604387]
Q7Z494	NPHP3_HUMAN	973	R	Q	Disease	Renal-hepatic-pancreatic dysplasia 1 (RHPD1) [MIM:208540]
Q7Z4F1	LRP10_HUMAN	48	R	W	Polymorphism	-
Q7Z4F1	LRP10_HUMAN	139	M	V	Polymorphism	-
Q7Z4G1	COMD6_HUMAN	52	H	N	Polymorphism	-
Q7Z4G4	TRM11_HUMAN	230	L	Q	Polymorphism	-
Q7Z4H3	HDDC2_HUMAN	64	R	C	Polymorphism	-
Q7Z4H7	HAUS6_HUMAN	674	H	Q	Polymorphism	-
Q7Z4H7	HAUS6_HUMAN	761	S	I	Polymorphism	-
Q7Z4H7	HAUS6_HUMAN	552	S	T	Polymorphism	-
Q7Z4H8	PLGT3_HUMAN	319	R	L	Polymorphism	-
Q7Z4H9	F220A_HUMAN	127	R	Q	Polymorphism	-
Q7Z4H9	F220A_HUMAN	161	V	L	Polymorphism	-
Q7Z4H9	F220A_HUMAN	237	G	S	Polymorphism	-
Q7Z4H9	F220A_HUMAN	71	G	R	Polymorphism	-
Q7Z4H9	F220A_HUMAN	198	V	M	Polymorphism	-
Q7Z4I7	LIMS2_HUMAN	92	N	K	Unclassified	Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT) [MIM:616827]
Q7Z4I7	LIMS2_HUMAN	323	L	P	Unclassified	Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT) [MIM:616827]
Q7Z4I7	LIMS2_HUMAN	97	P	L	Unclassified	Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT) [MIM:616827]
Q7Z4J2	GL6D1_HUMAN	195	H	R	Polymorphism	-
Q7Z4J2	GL6D1_HUMAN	219	P	S	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	616	R	C	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	280	M	V	Unclassified	-
Q7Z4L5	TT21B_HUMAN	201	V	M	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	209	P	L	Disease	Nephronophthisis 12 (NPHP12) [MIM:613820]
Q7Z4L5	TT21B_HUMAN	66	K	R	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	347	Y	C	Unclassified	-
Q7Z4L5	TT21B_HUMAN	424	D	E	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	1002	L	V	Unclassified	-
Q7Z4L5	TT21B_HUMAN	624	I	V	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	242	D	N	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	412	Q	R	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	255	Y	C	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	591	S	N	Disease	Joubert syndrome 11 (JBTS11) [MIM:613820]
Q7Z4L5	TT21B_HUMAN	150	W	R	Disease	Nephronophthisis 12 (NPHP12) [MIM:613820]
Q7Z4L5	TT21B_HUMAN	231	T	S	Disease	Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819]
Q7Z4L5	TT21B_HUMAN	1011	M	T	Disease	Joubert syndrome 11 (JBTS11) [MIM:613820]
Q7Z4L5	TT21B_HUMAN	755	D	Y	Disease	Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819]
Q7Z4L5	TT21B_HUMAN	231	T	S	Disease	Nephronophthisis 12 (NPHP12) [MIM:613820]
Q7Z4L5	TT21B_HUMAN	411	R	G	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	867	R	H	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	1041	D	N	Unclassified	-
Q7Z4L5	TT21B_HUMAN	1284	D	H	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	566	H	R	Unclassified	Nephronophthisis 12 (NPHP12) [MIM:613820]
Q7Z4L5	TT21B_HUMAN	327	A	S	Unclassified	-
Q7Z4L5	TT21B_HUMAN	1035	Y	C	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	867	R	C	Disease	Joubert syndrome 11 (JBTS11) [MIM:613820]
Q7Z4L5	TT21B_HUMAN	222	Q	L	Unclassified	-
Q7Z4L5	TT21B_HUMAN	60	F	Y	Unclassified	-
Q7Z4L5	TT21B_HUMAN	157	K	E	Unclassified	-
Q7Z4L5	TT21B_HUMAN	1011	M	V	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	645	H	R	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	1103	T	R	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	939	R	W	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	939	R	Q	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	846	K	R	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	869	Q	R	Unclassified	-
Q7Z4L5	TT21B_HUMAN	1208	I	S	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	1311	R	G	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	753	P	L	Unclassified	-
Q7Z4L5	TT21B_HUMAN	724	S	T	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	276	T	A	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	1167	Y	C	Disease	Nephronophthisis 12 (NPHP12) [MIM:613820]
Q7Z4L5	TT21B_HUMAN	844	M	V	Unclassified	-
Q7Z4L5	TT21B_HUMAN	1186	M	V	Disease	Joubert syndrome 11 (JBTS11) [MIM:613820]
Q7Z4L5	TT21B_HUMAN	463	P	S	Polymorphism	-
Q7Z4L5	TT21B_HUMAN	795	L	P	Disease	Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819]
Q7Z4L5	TT21B_HUMAN	473	L	F	Polymorphism	-
Q7Z4M0	RE114_HUMAN	148	V	M	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	1422	R	W	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	1229	N	T	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	1422	R	G	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	99	L	P	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N2	TRPM1_HUMAN	605	V	M	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	6	R	W	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	1395	V	I	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	1305	R	H	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	74	R	C	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N2	TRPM1_HUMAN	32	S	N	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	1498	H	Q	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	399	P	T	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	1379	P	T	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	541	M	K	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N2	TRPM1_HUMAN	611	P	H	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N2	TRPM1_HUMAN	72	Y	C	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N2	TRPM1_HUMAN	883	E	G	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N2	TRPM1_HUMAN	1438	R	G	Unclassified	-
Q7Z4N2	TRPM1_HUMAN	1002	I	F	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N2	TRPM1_HUMAN	473	R	P	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N2	TRPM1_HUMAN	721	R	Q	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N2	TRPM1_HUMAN	962	M	T	Unclassified	-
Q7Z4N2	TRPM1_HUMAN	56	Y	C	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N2	TRPM1_HUMAN	1161	Q	H	Polymorphism	-
Q7Z4N2	TRPM1_HUMAN	364	L	R	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N2	TRPM1_HUMAN	534	G	R	Disease	Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
Q7Z4N8	P4HA3_HUMAN	400	D	N	Polymorphism	-
Q7Z4Q2	HEAT3_HUMAN	302	R	S	Polymorphism	-
Q7Z4S6	KI21A_HUMAN	954	R	L	Disease	Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
Q7Z4S6	KI21A_HUMAN	1008	A	P	Disease	Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
Q7Z4S6	KI21A_HUMAN	356	M	T	Disease	Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
Q7Z4S6	KI21A_HUMAN	947	M	V	Disease	Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
Q7Z4S6	KI21A_HUMAN	947	M	R	Disease	Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
Q7Z4S6	KI21A_HUMAN	954	R	W	Disease	Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
Q7Z4S6	KI21A_HUMAN	947	M	T	Disease	Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
Q7Z4S6	KI21A_HUMAN	352	D	E	Disease	Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
Q7Z4S6	KI21A_HUMAN	954	R	Q	Disease	Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
Q7Z4S6	KI21A_HUMAN	944	E	Q	Disease	Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
Q7Z4S6	KI21A_HUMAN	1010	I	T	Disease	Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
Q7Z4T8	GLTL5_HUMAN	206	G	A	Polymorphism	-
Q7Z4T8	GLTL5_HUMAN	124	C	R	Polymorphism	-
Q7Z4T9	CFA91_HUMAN	320	S	C	Polymorphism	-
Q7Z4T9	CFA91_HUMAN	253	S	T	Polymorphism	-
Q7Z4T9	CFA91_HUMAN	207	A	P	Polymorphism	-
Q7Z4U5	CF201_HUMAN	20	R	P	Polymorphism	-
Q7Z4U5	CF201_HUMAN	117	N	K	Polymorphism	-
Q7Z4U5	CF201_HUMAN	25	D	Y	Polymorphism	-
Q7Z4V0	ZN438_HUMAN	173	P	S	Polymorphism	-
Q7Z4V0	ZN438_HUMAN	381	K	N	Unclassified	A breast cancer sample
Q7Z4V0	ZN438_HUMAN	693	L	V	Polymorphism	-
Q7Z4W2	LYZL2_HUMAN	144	D	G	Polymorphism	-
Q7Z553	MDGA2_HUMAN	608	V	F	Polymorphism	-
Q7Z570	Z804A_HUMAN	479	D	G	Polymorphism	-
Q7Z570	Z804A_HUMAN	707	T	K	Polymorphism	-
Q7Z570	Z804A_HUMAN	1081	L	V	Polymorphism	-
Q7Z570	Z804A_HUMAN	747	H	R	Polymorphism	-
Q7Z570	Z804A_HUMAN	1152	G	R	Polymorphism	-
Q7Z570	Z804A_HUMAN	542	E	K	Polymorphism	-
Q7Z570	Z804A_HUMAN	261	Q	L	Polymorphism	-
Q7Z570	Z804A_HUMAN	324	N	S	Unclassified	A colorectal cancer sample
Q7Z570	Z804A_HUMAN	600	K	R	Polymorphism	-
Q7Z572	SPT21_HUMAN	255	V	L	Polymorphism	-
Q7Z572	SPT21_HUMAN	390	N	K	Polymorphism	-
Q7Z572	SPT21_HUMAN	24	P	S	Unclassified	A breast cancer sample
Q7Z572	SPT21_HUMAN	53	I	L	Polymorphism	-
Q7Z572	SPT21_HUMAN	184	Q	R	Polymorphism	-
Q7Z591	AKNA_HUMAN	1303	S	P	Polymorphism	-
Q7Z591	AKNA_HUMAN	624	P	L	Polymorphism	-
Q7Z591	AKNA_HUMAN	1119	R	Q	Polymorphism	-
Q7Z591	AKNA_HUMAN	1097	Q	R	Polymorphism	-
Q7Z591	AKNA_HUMAN	1327	Y	C	Polymorphism	-
Q7Z5B4	RIC3_HUMAN	130	C	Y	Polymorphism	-
Q7Z5B4	RIC3_HUMAN	57	P	H	Polymorphism	-
Q7Z5B4	RIC3_HUMAN	346	G	V	Unclassified	A colorectal cancer sample
Q7Z5H3	RHG22_HUMAN	612	R	C	Polymorphism	-
Q7Z5H3	RHG22_HUMAN	410	T	K	Polymorphism	-
Q7Z5H4	VN1R5_HUMAN	350	R	C	Polymorphism	-
Q7Z5H5	VN1R4_HUMAN	52	A	V	Polymorphism	-
Q7Z5H5	VN1R4_HUMAN	220	D	N	Polymorphism	-
Q7Z5H5	VN1R4_HUMAN	58	R	L	Polymorphism	-
Q7Z5J4	RAI1_HUMAN	90	G	A	Polymorphism	-
Q7Z5J4	RAI1_HUMAN	165	P	T	Polymorphism	-
Q7Z5J4	RAI1_HUMAN	939	Q	P	Polymorphism	-
Q7Z5J8	ANKAR_HUMAN	675	I	V	Polymorphism	-
Q7Z5J8	ANKAR_HUMAN	1077	L	F	Polymorphism	-
Q7Z5K2	WAPL_HUMAN	124	V	I	Polymorphism	-
Q7Z5L0	VMO1_HUMAN	77	T	S	Polymorphism	-
Q7Z5L0	VMO1_HUMAN	26	T	A	Polymorphism	-
Q7Z5L2	R3HCL_HUMAN	113	S	P	Polymorphism	-
Q7Z5L2	R3HCL_HUMAN	261	S	G	Polymorphism	-
Q7Z5L2	R3HCL_HUMAN	238	K	N	Polymorphism	-
Q7Z5L2	R3HCL_HUMAN	566	H	R	Polymorphism	-
Q7Z5L2	R3HCL_HUMAN	535	D	A	Polymorphism	-
Q7Z5L2	R3HCL_HUMAN	546	P	S	Polymorphism	-
Q7Z5L2	R3HCL_HUMAN	656	H	R	Polymorphism	-
Q7Z5L4	SPT19_HUMAN	50	A	V	Polymorphism	-
Q7Z5L7	PODN_HUMAN	444	T	M	Polymorphism	-
Q7Z5L7	PODN_HUMAN	472	V	A	Polymorphism	-
Q7Z5L9	I2BP2_HUMAN	551	S	N	Disease	Immunodeficiency, common variable, 14 (CVID14) [MIM:617765]
Q7Z5L9	I2BP2_HUMAN	254	A	V	Polymorphism	-
Q7Z5M5	TMC3_HUMAN	1099	D	N	Polymorphism	-
Q7Z5M5	TMC3_HUMAN	893	C	Y	Polymorphism	-
Q7Z5M5	TMC3_HUMAN	196	V	I	Polymorphism	-
Q7Z5M5	TMC3_HUMAN	1012	R	K	Polymorphism	-
Q7Z5M8	AB12B_HUMAN	334	F	L	Polymorphism	-
Q7Z5M8	AB12B_HUMAN	282	I	V	Unclassified	A breast cancer sample
Q7Z5N4	SDK1_HUMAN	1016	D	N	Polymorphism	-
Q7Z5N4	SDK1_HUMAN	1641	H	R	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1688	T	A	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1770	S	R	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1762	E	A	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1493	A	V	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1226	S	F	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	783	T	K	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1296	G	S	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	2029	A	S	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1451	A	T	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1367	A	T	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1327	G	W	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1151	I	T	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1621	N	S	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	869	V	I	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1315	R	H	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	803	D	H	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	791	R	L	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1411	C	Y	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	843	V	I	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1278	I	M	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	790	V	I	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	717	G	E	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	1010	L	F	Polymorphism	-
Q7Z5P9	MUC19_HUMAN	883	V	I	Polymorphism	-
Q7Z5Q5	DPOLN_HUMAN	310	M	L	Polymorphism	-
Q7Z5Q5	DPOLN_HUMAN	336	G	S	Polymorphism	-
Q7Z5Q5	DPOLN_HUMAN	201	R	G	Polymorphism	-
Q7Z5Q5	DPOLN_HUMAN	315	P	S	Polymorphism	-
Q7Z5Q5	DPOLN_HUMAN	502	S	G	Polymorphism	-
Q7Z5Q5	DPOLN_HUMAN	711	F	L	Polymorphism	-
Q7Z5Q5	DPOLN_HUMAN	121	Q	H	Polymorphism	-
Q7Z5Q5	DPOLN_HUMAN	425	R	C	Polymorphism	-
Q7Z5R6	AB1IP_HUMAN	404	T	A	Polymorphism	-
Q7Z5R6	AB1IP_HUMAN	617	A	T	Polymorphism	-
Q7Z5S9	TM144_HUMAN	157	D	G	Polymorphism	-
Q7Z5U6	WDR53_HUMAN	60	S	C	Unclassified	A breast cancer sample
Q7Z5U6	WDR53_HUMAN	338	H	P	Polymorphism	-
Q7Z5V6	PPR32_HUMAN	238	T	N	Polymorphism	-
Q7Z5V6	PPR32_HUMAN	382	S	T	Polymorphism	-
Q7Z5W3	BN3D2_HUMAN	288	S	R	Polymorphism	-
Q7Z5Y6	BMP8A_HUMAN	84	M	V	Polymorphism	-
Q7Z5Y6	BMP8A_HUMAN	293	R	H	Polymorphism	-
Q7Z5Y7	KCD20_HUMAN	171	S	T	Polymorphism	-
Q7Z601	GP142_HUMAN	132	H	N	Polymorphism	-
Q7Z602	GP141_HUMAN	72	R	H	Polymorphism	-
Q7Z614	SNX20_HUMAN	35	P	L	Polymorphism	-
Q7Z628	ARHG8_HUMAN	202	D	N	Unclassified	A breast cancer sample
Q7Z628	ARHG8_HUMAN	417	T	I	Polymorphism	-
Q7Z695	ADCK2_HUMAN	66	S	G	Polymorphism	-
Q7Z695	ADCK2_HUMAN	418	V	M	Polymorphism	-
Q7Z695	ADCK2_HUMAN	307	S	P	Polymorphism	-
Q7Z695	ADCK2_HUMAN	626	P	L	Polymorphism	-
Q7Z695	ADCK2_HUMAN	418	V	L	Polymorphism	-
Q7Z695	ADCK2_HUMAN	622	P	L	Polymorphism	-
Q7Z699	SPRE1_HUMAN	31	W	C	Disease	Legius syndrome (LGSS) [MIM:611431]
Q7Z699	SPRE1_HUMAN	44	V	D	Disease	Legius syndrome (LGSS) [MIM:611431]
Q7Z6A9	BTLA_HUMAN	124	I	V	Polymorphism	-
Q7Z6A9	BTLA_HUMAN	157	R	S	Polymorphism	-
Q7Z6A9	BTLA_HUMAN	267	P	L	Polymorphism	-
Q7Z6B0	CCD91_HUMAN	314	V	M	Polymorphism	-
Q7Z6B0	CCD91_HUMAN	261	M	V	Polymorphism	-
Q7Z6B7	SRGP1_HUMAN	617	R	C	Disease	Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]
Q7Z6B7	SRGP1_HUMAN	149	Q	H	Disease	Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]
Q7Z6B7	SRGP1_HUMAN	875	H	R	Disease	Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]
Q7Z6B7	SRGP1_HUMAN	275	A	T	Disease	Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]
Q7Z6B7	SRGP1_HUMAN	512	V	I	Polymorphism	-
Q7Z6E9	RBBP6_HUMAN	555	V	A	Polymorphism	-
Q7Z6E9	RBBP6_HUMAN	1208	K	I	Polymorphism	-
Q7Z6E9	RBBP6_HUMAN	43	D	H	Polymorphism	-
Q7Z6G3	NECA2_HUMAN	233	G	S	Polymorphism	-
Q7Z6G3	NECA2_HUMAN	353	L	V	Polymorphism	-
Q7Z6G3	NECA2_HUMAN	235	T	S	Polymorphism	-
Q7Z6G3	NECA2_HUMAN	308	Q	H	Polymorphism	-
Q7Z6I6	RHG30_HUMAN	591	L	V	Polymorphism	-
Q7Z6I6	RHG30_HUMAN	70	F	L	Polymorphism	-
Q7Z6J0	SH3R1_HUMAN	663	P	S	Polymorphism	-
Q7Z6J4	FGD2_HUMAN	32	Q	H	Polymorphism	-
Q7Z6J8	UBE3D_HUMAN	379	V	M	Polymorphism	-
Q7Z6J8	UBE3D_HUMAN	174	T	P	Polymorphism	-
Q7Z6J9	SEN54_HUMAN	525	G	R	Polymorphism	-
Q7Z6J9	SEN54_HUMAN	93	S	P	Disease	Pontocerebellar hypoplasia 4 (PCH4) [MIM:225753]
Q7Z6J9	SEN54_HUMAN	137	I	L	Polymorphism	-
Q7Z6J9	SEN54_HUMAN	4	E	D	Polymorphism	-
Q7Z6J9	SEN54_HUMAN	85	E	V	Unclassified	-
Q7Z6J9	SEN54_HUMAN	119	Y	D	Disease	Pontocerebellar hypoplasia 2A (PCH2A) [MIM:277470]
Q7Z6J9	SEN54_HUMAN	38	H	Q	Polymorphism	-
Q7Z6J9	SEN54_HUMAN	347	K	N	Polymorphism	-
Q7Z6J9	SEN54_HUMAN	307	A	S	Disease	Pontocerebellar hypoplasia 4 (PCH4) [MIM:225753]
Q7Z6J9	SEN54_HUMAN	307	A	S	Disease	Pontocerebellar hypoplasia 2A (PCH2A) [MIM:277470]
Q7Z6J9	SEN54_HUMAN	437	A	V	Polymorphism	-
Q7Z6L0	PRRT2_HUMAN	281	W	R	Disease	Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]
Q7Z6L0	PRRT2_HUMAN	305	G	R	Disease	Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]
Q7Z6L0	PRRT2_HUMAN	216	P	L	Polymorphism	-
Q7Z6L0	PRRT2_HUMAN	266	R	W	Disease	Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]
Q7Z6L0	PRRT2_HUMAN	215	P	R	Polymorphism	-
Q7Z6L0	PRRT2_HUMAN	323	G	E	Disease	Seizures, benign familial infantile, 2 (BFIS2) [MIM:605751]
Q7Z6L0	PRRT2_HUMAN	317	S	N	Disease	Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066]
Q7Z6L0	PRRT2_HUMAN	245	R	H	Polymorphism	-
Q7Z6L0	PRRT2_HUMAN	308	R	C	Disease	Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]
Q7Z6L0	PRRT2_HUMAN	138	P	A	Polymorphism	-
Q7Z6L0	PRRT2_HUMAN	287	A	T	Disease	Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]
Q7Z6L0	PRRT2_HUMAN	147	D	H	Polymorphism	-
Q7Z6L0	PRRT2_HUMAN	214	A	P	Polymorphism	-
Q7Z6L0	PRRT2_HUMAN	237	G	R	Polymorphism	-
Q7Z6L1	TCPR1_HUMAN	944	P	L	Polymorphism	-
Q7Z6L1	TCPR1_HUMAN	733	S	Y	Polymorphism	-
Q7Z6M1	RABEK_HUMAN	333	M	I	Polymorphism	-
Q7Z6M1	RABEK_HUMAN	95	S	C	Polymorphism	-
Q7Z6M1	RABEK_HUMAN	58	P	A	Polymorphism	-
Q7Z6M1	RABEK_HUMAN	60	R	G	Polymorphism	-
Q7Z6M1	RABEK_HUMAN	313	D	G	Polymorphism	-
Q7Z6M1	RABEK_HUMAN	67	T	P	Polymorphism	-
Q7Z6M1	RABEK_HUMAN	73	H	Y	Polymorphism	-
Q7Z6M4	MTEF4_HUMAN	189	M	T	Polymorphism	-
Q7Z6M4	MTEF4_HUMAN	378	D	E	Polymorphism	-
Q7Z6M4	MTEF4_HUMAN	45	T	A	Polymorphism	-
Q7Z6M4	MTEF4_HUMAN	347	D	E	Polymorphism	-
Q7Z6M4	MTEF4_HUMAN	339	L	V	Polymorphism	-
Q7Z6R9	AP2D_HUMAN	214	V	F	Unclassified	A breast cancer sample
Q7Z6W7	DNJB7_HUMAN	41	E	A	Polymorphism	-
Q7Z6Z6	PLPL5_HUMAN	200	T	I	Polymorphism	-
Q7Z6Z6	PLPL5_HUMAN	140	L	F	Polymorphism	-
Q7Z6Z6	PLPL5_HUMAN	286	W	R	Polymorphism	-
Q7Z6Z7	HUWE1_HUMAN	2981	R	H	Disease	Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:300706]
Q7Z6Z7	HUWE1_HUMAN	950	V	D	Unclassified	-
Q7Z6Z7	HUWE1_HUMAN	4187	R	C	Disease	Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:300706]
Q7Z6Z7	HUWE1_HUMAN	4013	R	W	Disease	Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:300706]
Q7Z6Z7	HUWE1_HUMAN	483	N	S	Polymorphism	-
Q7Z713	ANR37_HUMAN	152	T	S	Polymorphism	-
Q7Z736	PKHH3_HUMAN	547	Q	H	Polymorphism	-
Q7Z745	MRO2B_HUMAN	11	M	V	Polymorphism	-
Q7Z745	MRO2B_HUMAN	496	V	I	Polymorphism	-
Q7Z745	MRO2B_HUMAN	781	M	V	Polymorphism	-
Q7Z745	MRO2B_HUMAN	918	N	K	Polymorphism	-
Q7Z745	MRO2B_HUMAN	191	W	R	Polymorphism	-
Q7Z745	MRO2B_HUMAN	648	D	V	Polymorphism	-
Q7Z745	MRO2B_HUMAN	526	R	H	Polymorphism	-
Q7Z745	MRO2B_HUMAN	617	K	N	Polymorphism	-
Q7Z745	MRO2B_HUMAN	263	L	I	Polymorphism	-
Q7Z745	MRO2B_HUMAN	468	E	V	Polymorphism	-
Q7Z745	MRO2B_HUMAN	1179	L	P	Polymorphism	-
Q7Z794	K2C1B_HUMAN	10	A	T	Polymorphism	-
Q7Z7A1	CNTRL_HUMAN	216	P	L	Polymorphism	-
Q7Z7A1	CNTRL_HUMAN	1146	M	V	Polymorphism	-
Q7Z7A1	CNTRL_HUMAN	56	V	I	Polymorphism	-
Q7Z7A1	CNTRL_HUMAN	889	A	T	Polymorphism	-
Q7Z7A3	CTU1_HUMAN	107	A	V	Polymorphism	-
Q7Z7A4	PXK_HUMAN	535	A	V	Polymorphism	-
Q7Z7A4	PXK_HUMAN	525	A	V	Polymorphism	-
Q7Z7A4	PXK_HUMAN	426	I	V	Polymorphism	-
Q7Z7A4	PXK_HUMAN	481	K	R	Polymorphism	-
Q7Z7B0	FLIP1_HUMAN	1003	P	S	Polymorphism	-
Q7Z7B1	PIGW_HUMAN	167	M	V	Disease	Glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11) [MIM:616025]
Q7Z7B1	PIGW_HUMAN	71	T	P	Disease	Glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11) [MIM:616025]
Q7Z7B8	DB128_HUMAN	27	K	N	Polymorphism	-
Q7Z7C7	STRA8_HUMAN	25	T	I	Unclassified	-
Q7Z7F7	RM55_HUMAN	24	R	C	Polymorphism	-
Q7Z7F7	RM55_HUMAN	42	R	H	Polymorphism	-
Q7Z7G0	TARSH_HUMAN	670	D	G	Unclassified	-
Q7Z7G1	CLNK_HUMAN	65	S	G	Polymorphism	-
Q7Z7G8	VP13B_HUMAN	2773	S	L	Disease	Cohen syndrome (COH1) [MIM:216550]
Q7Z7G8	VP13B_HUMAN	2193	L	R	Unclassified	Cohen syndrome (COH1) [MIM:216550]
Q7Z7G8	VP13B_HUMAN	829	A	T	Polymorphism	-
Q7Z7G8	VP13B_HUMAN	1138	P	L	Polymorphism	-
Q7Z7G8	VP13B_HUMAN	3142	S	R	Polymorphism	-
Q7Z7G8	VP13B_HUMAN	2584	V	A	Polymorphism	-
Q7Z7G8	VP13B_HUMAN	2993	N	S	Disease	Cohen syndrome (COH1) [MIM:216550]
Q7Z7G8	VP13B_HUMAN	2481	V	I	Polymorphism	-
Q7Z7G8	VP13B_HUMAN	3432	G	R	Polymorphism	-
Q7Z7G8	VP13B_HUMAN	2645	G	D	Disease	Cohen syndrome (COH1) [MIM:216550]
Q7Z7G8	VP13B_HUMAN	866	V	I	Polymorphism	-
Q7Z7G8	VP13B_HUMAN	2822	Y	C	Polymorphism	-
Q7Z7G8	VP13B_HUMAN	2820	I	T	Disease	Cohen syndrome (COH1) [MIM:216550]
Q7Z7G8	VP13B_HUMAN	2341	Y	C	Disease	Cohen syndrome (COH1) [MIM:216550]
Q7Z7G8	VP13B_HUMAN	3001	L	V	Unclassified	A breast cancer sample
Q7Z7G8	VP13B_HUMAN	1994	I	V	Polymorphism	-
Q7Z7H8	RM10_HUMAN	125	V	I	Polymorphism	-
Q7Z7J5	DPPA2_HUMAN	131	R	Q	Polymorphism	-
Q7Z7K2	ZN467_HUMAN	324	T	A	Polymorphism	-
Q7Z7L1	SLN11_HUMAN	301	N	D	Polymorphism	-
Q7Z7L1	SLN11_HUMAN	489	R	L	Polymorphism	-
Q7Z7L1	SLN11_HUMAN	121	V	F	Polymorphism	-
Q7Z7L1	SLN11_HUMAN	822	Y	C	Polymorphism	-
Q7Z7L7	ZER1_HUMAN	539	T	I	Polymorphism	-
Q7Z7L8	CK096_HUMAN	144	R	C	Polymorphism	-
Q7Z7L8	CK096_HUMAN	47	S	P	Polymorphism	-
Q7Z7L8	CK096_HUMAN	110	R	S	Polymorphism	-
Q7Z7L8	CK096_HUMAN	151	F	S	Polymorphism	-
Q7Z7L8	CK096_HUMAN	352	P	S	Polymorphism	-
Q7Z7L8	CK096_HUMAN	26	T	A	Polymorphism	-
Q7Z7L9	ZSCA2_HUMAN	191	S	T	Polymorphism	-
Q7Z7M0	MEGF8_HUMAN	1566	R	H	Disease	Carpenter syndrome 2 (CRPT2) [MIM:614976]
Q7Z7M0	MEGF8_HUMAN	199	G	R	Disease	Carpenter syndrome 2 (CRPT2) [MIM:614976]
Q7Z7M0	MEGF8_HUMAN	2434	S	G	Disease	Carpenter syndrome 2 (CRPT2) [MIM:614976]
Q7Z7M8	B3GN8_HUMAN	137	S	G	Polymorphism	-
Q7Z7M9	GALT5_HUMAN	692	L	F	Unclassified	A breast cancer sample
Q7Z7M9	GALT5_HUMAN	489	Q	H	Polymorphism	-
Q7Z7M9	GALT5_HUMAN	77	P	L	Polymorphism	-
Q7Z7M9	GALT5_HUMAN	507	E	D	Unclassified	A breast cancer sample
Q86SG4	DPCA2_HUMAN	91	C	R	Polymorphism	-
Q86SG5	S1A7A_HUMAN	84	A	T	Polymorphism	-
Q86SG5	S1A7A_HUMAN	23	R	H	Polymorphism	-
Q86SG6	NEK8_HUMAN	497	A	P	Disease	Nephronophthisis 9 (NPHP9) [MIM:613824]
Q86SG6	NEK8_HUMAN	330	L	F	Disease	Nephronophthisis 9 (NPHP9) [MIM:613824]
Q86SG6	NEK8_HUMAN	425	H	Y	Disease	Nephronophthisis 9 (NPHP9) [MIM:613824]
Q86SH4	PRNT_HUMAN	50	T	S	Polymorphism	-
Q86SJ6	DSG4_HUMAN	644	I	L	Polymorphism	-
Q86SJ6	DSG4_HUMAN	535	I	T	Polymorphism	-
Q86SJ6	DSG4_HUMAN	154	A	T	Polymorphism	-
Q86SM8	MRGRE_HUMAN	16	G	S	Polymorphism	-
Q86SM8	MRGRE_HUMAN	160	G	S	Polymorphism	-
Q86SQ0	PHLB2_HUMAN	941	P	S	Polymorphism	-
Q86SQ4	AGRG6_HUMAN	1057	R	Q	Polymorphism	-
Q86SQ4	AGRG6_HUMAN	230	K	Q	Polymorphism	-
Q86SQ4	AGRG6_HUMAN	741	V	E	Disease	Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503]
Q86SQ4	AGRG6_HUMAN	769	V	E	Disease	Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503]
Q86SQ4	AGRG6_HUMAN	1127	Q	R	Polymorphism	-
Q86SQ4	AGRG6_HUMAN	123	S	G	Polymorphism	-
Q86SQ6	AGRA1_HUMAN	183	A	S	Polymorphism	-
Q86SQ6	AGRA1_HUMAN	214	Q	L	Polymorphism	-
Q86SQ7	SDCG8_HUMAN	378	E	D	Polymorphism	-
Q86SQ9	DHDDS_HUMAN	253	V	M	Polymorphism	-
Q86SQ9	DHDDS_HUMAN	211	R	Q	Unclassified	Developmental delay and seizures with or without movement abnormalities (DEDSM) [MIM:617836]
Q86SQ9	DHDDS_HUMAN	42	K	E	Disease	Retinitis pigmentosa 59 (RP59) [MIM:613861]
Q86SQ9	DHDDS_HUMAN	37	R	H	Unclassified	Developmental delay and seizures with or without movement abnormalities (DEDSM) [MIM:617836]
Q86SS6	SYT9_HUMAN	238	I	V	Polymorphism	-
Q86SS6	SYT9_HUMAN	353	L	V	Polymorphism	-
Q86SS6	SYT9_HUMAN	445	D	N	Unclassified	A colorectal cancer sample
Q86SS6	SYT9_HUMAN	154	V	M	Polymorphism	-
Q86SU0	ILDR1_HUMAN	357	I	V	Polymorphism	-
Q86SU0	ILDR1_HUMAN	97	R	Q	Disease	Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646]
Q86SU0	ILDR1_HUMAN	463	R	C	Polymorphism	-
Q86SU0	ILDR1_HUMAN	453	R	Q	Unclassified	Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646]
Q86SX6	GLRX5_HUMAN	148	L	S	Disease	Anemia, sideroblastic, 3, pyridoxine-refractory (SIDBA3) [MIM:616860]
Q86SX6	GLRX5_HUMAN	101	K	Q	Disease	Anemia, sideroblastic, 3, pyridoxine-refractory (SIDBA3) [MIM:616860]
Q86SX6	GLRX5_HUMAN	146	A	T	Polymorphism	-
Q86T26	TM11B_HUMAN	348	T	S	Polymorphism	-
Q86T26	TM11B_HUMAN	242	I	V	Polymorphism	-
Q86T26	TM11B_HUMAN	325	D	A	Polymorphism	-
Q86T65	DAAM2_HUMAN	617	R	H	Polymorphism	-
Q86T65	DAAM2_HUMAN	105	R	H	Polymorphism	-
Q86T82	UBP37_HUMAN	979	L	S	Polymorphism	-
Q86T90	K1328_HUMAN	383	R	C	Polymorphism	-
Q86TB3	ALPK2_HUMAN	2	K	T	Polymorphism	-
Q86TB3	ALPK2_HUMAN	136	R	S	Polymorphism	-
Q86TB3	ALPK2_HUMAN	916	N	K	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1730	K	E	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1767	H	Y	Polymorphism	-
Q86TB3	ALPK2_HUMAN	829	K	N	Polymorphism	-
Q86TB3	ALPK2_HUMAN	977	S	T	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1296	L	V	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1969	E	K	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1449	P	S	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1476	K	T	Unclassified	A melanoma metastatic sample
Q86TB3	ALPK2_HUMAN	891	T	I	Polymorphism	-
Q86TB3	ALPK2_HUMAN	810	G	S	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1884	R	C	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1134	K	N	Polymorphism	-
Q86TB3	ALPK2_HUMAN	884	S	L	Polymorphism	-
Q86TB3	ALPK2_HUMAN	2157	I	V	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1057	L	V	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1729	K	E	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1174	H	P	Polymorphism	-
Q86TB3	ALPK2_HUMAN	719	H	Q	Polymorphism	-
Q86TB3	ALPK2_HUMAN	825	R	T	Polymorphism	-
Q86TB3	ALPK2_HUMAN	942	E	K	Unclassified	An ovarian undifferentiated carcinoma sample
Q86TB3	ALPK2_HUMAN	1063	G	V	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1579	Q	R	Polymorphism	-
Q86TB3	ALPK2_HUMAN	1551	A	S	Polymorphism	-
Q86TC9	MYPN_HUMAN	1088	R	H	Disease	Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]
Q86TC9	MYPN_HUMAN	955	R	W	Unclassified	Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]
Q86TC9	MYPN_HUMAN	882	A	T	Disease	Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]
Q86TC9	MYPN_HUMAN	841	P	T	Disease	Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248]
Q86TC9	MYPN_HUMAN	804	G	R	Polymorphism	-
Q86TC9	MYPN_HUMAN	410	V	A	Disease	Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248]
Q86TC9	MYPN_HUMAN	1195	V	M	Disease	Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]
Q86TC9	MYPN_HUMAN	213	I	V	Disease	Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]
Q86TC9	MYPN_HUMAN	1112	P	L	Disease	Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248]
Q86TC9	MYPN_HUMAN	153	K	R	Disease	Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248]
Q86TC9	MYPN_HUMAN	803	S	R	Polymorphism	-
Q86TC9	MYPN_HUMAN	339	Y	F	Disease	Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]
Q86TC9	MYPN_HUMAN	20	Y	C	Disease	Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248]
Q86TC9	MYPN_HUMAN	1135	P	T	Polymorphism	-
Q86TC9	MYPN_HUMAN	611	A	T	Disease	Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]
Q86TC9	MYPN_HUMAN	20	Y	C	Disease	Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]
Q86TC9	MYPN_HUMAN	955	R	Q	Polymorphism	-
Q86TC9	MYPN_HUMAN	467	E	K	Polymorphism	-
Q86TC9	MYPN_HUMAN	961	P	L	Disease	Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]
Q86TC9	MYPN_HUMAN	1112	P	L	Disease	Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]
Q86TC9	MYPN_HUMAN	217	A	E	Disease	Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248]
Q86TC9	MYPN_HUMAN	628	F	L	Polymorphism	-
Q86TC9	MYPN_HUMAN	393	V	A	Polymorphism	-
Q86TC9	MYPN_HUMAN	1306	V	G	Polymorphism	-
Q86TC9	MYPN_HUMAN	691	S	N	Polymorphism	-
Q86TC9	MYPN_HUMAN	707	S	N	Polymorphism	-
Q86TC9	MYPN_HUMAN	1265	A	P	Disease	Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248]
Q86TC9	MYPN_HUMAN	614	E	K	Polymorphism	-
Q86TC9	MYPN_HUMAN	698	N	S	Polymorphism	-
Q86TC9	MYPN_HUMAN	954	F	L	Disease	Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]
Q86TC9	MYPN_HUMAN	1161	L	I	Polymorphism	-
Q86TE4	LUZP2_HUMAN	308	E	Q	Polymorphism	-
Q86TH1	ATL2_HUMAN	165	A	T	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	114	E	K	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	113	R	H	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	147	P	L	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	593	R	C	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	72	R	Q	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	635	S	L	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	159	R	W	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	364	V	I	Polymorphism	-
Q86TH1	ATL2_HUMAN	171	C	R	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	50	W	C	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	906	P	L	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	811	G	R	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	221	R	C	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1	ATL2_HUMAN	239	A	T	Disease	Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TI0	TBCD1_HUMAN	55	T	I	Polymorphism	-
Q86TI0	TBCD1_HUMAN	228	V	G	Polymorphism	-
Q86TI0	TBCD1_HUMAN	1136	R	Q	Polymorphism	-
Q86TI0	TBCD1_HUMAN	14	S	P	Polymorphism	-
Q86TI0	TBCD1_HUMAN	125	R	W	Polymorphism	-
Q86TI0	TBCD1_HUMAN	685	Y	S	Polymorphism	-
Q86TI4	WDR86_HUMAN	355	M	T	Polymorphism	-
Q86TJ5	ZN554_HUMAN	211	V	I	Polymorphism	-
Q86TJ5	ZN554_HUMAN	190	E	G	Polymorphism	-
Q86TM3	DDX53_HUMAN	391	R	M	Polymorphism	-
Q86TM3	DDX53_HUMAN	62	V	A	Polymorphism	-
Q86TM3	DDX53_HUMAN	381	M	I	Polymorphism	-
Q86TM3	DDX53_HUMAN	141	N	T	Unclassified	-
Q86TN4	TRPT1_HUMAN	3	F	L	Polymorphism	-
Q86TN4	TRPT1_HUMAN	221	R	C	Polymorphism	-
Q86TN4	TRPT1_HUMAN	172	H	R	Polymorphism	-
Q86TP1	PRUN1_HUMAN	54	P	T	Unclassified	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481]
Q86TP1	PRUN1_HUMAN	106	D	N	Disease	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481]
Q86TP1	PRUN1_HUMAN	397	G	S	Polymorphism	-
Q86TP1	PRUN1_HUMAN	397	G	R	Polymorphism	-
Q86TP1	PRUN1_HUMAN	30	D	N	Disease	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481]
Q86TP1	PRUN1_HUMAN	128	R	Q	Disease	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481]
Q86TP1	PRUN1_HUMAN	297	R	W	Disease	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481]
Q86TS9	RM52_HUMAN	104	K	R	Polymorphism	-
Q86TS9	RM52_HUMAN	19	V	A	Polymorphism	-
Q86TS9	RM52_HUMAN	5	G	V	Polymorphism	-
Q86TU6	CN070_HUMAN	21	E	D	Polymorphism	-
Q86TU7	SETD3_HUMAN	278	N	D	Polymorphism	-
Q86TX2	ACOT1_HUMAN	266	R	H	Polymorphism	-
Q86TY3	ARMD4_HUMAN	96	T	I	Polymorphism	-
Q86TY3	ARMD4_HUMAN	391	A	V	Polymorphism	-
Q86TY3	ARMD4_HUMAN	613	Q	E	Polymorphism	-
Q86TY3	ARMD4_HUMAN	528	V	F	Polymorphism	-
Q86TZ1	TTC6_HUMAN	140	T	I	Polymorphism	-
Q86TZ1	TTC6_HUMAN	376	T	S	Polymorphism	-
Q86TZ1	TTC6_HUMAN	98	A	T	Polymorphism	-
Q86TZ1	TTC6_HUMAN	87	I	S	Polymorphism	-
Q86U06	RBM23_HUMAN	428	F	L	Polymorphism	-
Q86U06	RBM23_HUMAN	184	D	N	Polymorphism	-
Q86U10	LPP60_HUMAN	96	L	V	Polymorphism	-
Q86U10	LPP60_HUMAN	95	C	R	Polymorphism	-
Q86U10	LPP60_HUMAN	344	S	R	Polymorphism	-
Q86U17	SPA11_HUMAN	230	E	A	Polymorphism	-
Q86U17	SPA11_HUMAN	406	T	S	Polymorphism	-
Q86U28	ISCA2_HUMAN	77	G	S	Disease	Multiple mitochondrial dysfunctions syndrome 4 (MMDS4) [MIM:616370]
Q86U38	NOP9_HUMAN	51	P	S	Polymorphism	-
Q86U38	NOP9_HUMAN	308	S	N	Polymorphism	-
Q86U38	NOP9_HUMAN	497	S	Y	Unclassified	A breast cancer sample
Q86U38	NOP9_HUMAN	626	R	Q	Unclassified	A breast cancer sample
Q86U44	MTA70_HUMAN	406	Y	C	Unclassified	-
Q86U70	LDB1_HUMAN	299	R	Q	Unclassified	A colorectal cancer sample
Q86U86	PB1_HUMAN	1204	H	P	Unclassified	-
Q86U86	PB1_HUMAN	922	E	Q	Unclassified	-
Q86U86	PB1_HUMAN	1098	A	S	Polymorphism	-
Q86U86	PB1_HUMAN	1120	R	Q	Polymorphism	-
Q86U86	PB1_HUMAN	1614	I	N	Unclassified	-
Q86U86	PB1_HUMAN	66	R	G	Polymorphism	-
Q86U86	PB1_HUMAN	523	M	I	Unclassified	-
Q86U86	PB1_HUMAN	621	K	E	Unclassified	-
Q86U86	PB1_HUMAN	1647	R	C	Polymorphism	-
Q86U86	PB1_HUMAN	1414	G	E	Unclassified	-
Q86U86	PB1_HUMAN	228	I	V	Polymorphism	-
Q86U86	PB1_HUMAN	661	K	N	Unclassified	-
Q86U86	PB1_HUMAN	144	Y	F	Unclassified	-
Q86U86	PB1_HUMAN	1287	E	Q	Unclassified	-
Q86U86	PB1_HUMAN	1177	G	S	Unclassified	-
Q86U86	PB1_HUMAN	56	T	A	Polymorphism	-
Q86U86	PB1_HUMAN	233	I	T	Unclassified	-
Q86U86	PB1_HUMAN	893	Y	C	Polymorphism	-
Q86U86	PB1_HUMAN	895	T	S	Unclassified	-
Q86U86	PB1_HUMAN	202	R	C	Polymorphism	-
Q86U86	PB1_HUMAN	678	R	C	Polymorphism	-
Q86U86	PB1_HUMAN	160	E	A	Unclassified	-
Q86U86	PB1_HUMAN	232	T	P	Unclassified	-
Q86U86	PB1_HUMAN	597	A	D	Unclassified	-
Q86U86	PB1_HUMAN	540	R	S	Unclassified	-
Q86U86	PB1_HUMAN	1079	P	Y	Unclassified	-
Q86U86	PB1_HUMAN	925	K	Q	Unclassified	-
Q86U86	PB1_HUMAN	674	D	E	Unclassified	-
Q86U86	PB1_HUMAN	256	A	T	Polymorphism	-
Q86U86	PB1_HUMAN	49	V	L	Unclassified	-
Q86U86	PB1_HUMAN	90	Q	E	Unclassified	-
Q86U86	PB1_HUMAN	1503	G	C	Unclassified	-
Q86U86	PB1_HUMAN	1560	Q	H	Unclassified	-
Q86U86	PB1_HUMAN	226	E	G	Unclassified	-
Q86U86	PB1_HUMAN	206	E	K	Polymorphism	-
Q86U86	PB1_HUMAN	340	G	A	Polymorphism	-
Q86UA6	RIP_HUMAN	103	N	K	Polymorphism	-
Q86UB9	TM135_HUMAN	430	G	A	Polymorphism	-
Q86UB9	TM135_HUMAN	218	G	R	Polymorphism	-
Q86UB9	TM135_HUMAN	193	P	H	Polymorphism	-
Q86UC2	RSPH3_HUMAN	484	E	K	Polymorphism	-
Q86UC2	RSPH3_HUMAN	518	G	D	Polymorphism	-
Q86UC2	RSPH3_HUMAN	201	N	S	Polymorphism	-
Q86UC2	RSPH3_HUMAN	213	R	Q	Polymorphism	-
Q86UC2	RSPH3_HUMAN	439	M	T	Polymorphism	-
Q86UC2	RSPH3_HUMAN	398	R	Q	Polymorphism	-
Q86UD1	OAF_HUMAN	217	R	H	Polymorphism	-
Q86UD1	OAF_HUMAN	210	H	R	Polymorphism	-
Q86UD3	MARH3_HUMAN	68	R	Q	Polymorphism	-
Q86UD4	ZN329_HUMAN	99	S	N	Polymorphism	-
Q86UD4	ZN329_HUMAN	182	N	D	Polymorphism	-
Q86UD5	SL9B2_HUMAN	357	F	C	Polymorphism	-
Q86UD5	SL9B2_HUMAN	161	V	A	Polymorphism	-
Q86UD5	SL9B2_HUMAN	159	I	T	Polymorphism	-
Q86UD7	TBC26_HUMAN	234	G	S	Polymorphism	-
Q86UD7	TBC26_HUMAN	206	A	V	Polymorphism	-
Q86UE3	ZN546_HUMAN	253	A	V	Polymorphism	-
Q86UE3	ZN546_HUMAN	15	L	V	Unclassified	A breast cancer sample
Q86UE3	ZN546_HUMAN	452	L	F	Polymorphism	-
Q86UE3	ZN546_HUMAN	243	R	T	Polymorphism	-
Q86UE3	ZN546_HUMAN	427	E	G	Polymorphism	-
Q86UE3	ZN546_HUMAN	652	L	F	Polymorphism	-
Q86UE3	ZN546_HUMAN	201	Q	R	Polymorphism	-
Q86UE3	ZN546_HUMAN	298	V	E	Polymorphism	-
Q86UE4	LYRIC_HUMAN	317	T	A	Polymorphism	-
Q86UE6	LRRT1_HUMAN	330	N	S	Polymorphism	-
Q86UE8	TLK2_HUMAN	680	P	R	Disease	Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
Q86UE8	TLK2_HUMAN	493	H	R	Disease	Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
Q86UE8	TLK2_HUMAN	262	R	Q	Polymorphism	-
Q86UE8	TLK2_HUMAN	54	E	D	Polymorphism	-
Q86UE8	TLK2_HUMAN	109	R	L	Polymorphism	-
Q86UE8	TLK2_HUMAN	6	H	R	Polymorphism	-
Q86UE8	TLK2_HUMAN	108	A	G	Polymorphism	-
Q86UE8	TLK2_HUMAN	568	R	W	Disease	Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
Q86UE8	TLK2_HUMAN	173	F	L	Unclassified	A gastric adenocarcinoma sample
Q86UE8	TLK2_HUMAN	629	D	N	Disease	Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
Q86UE8	TLK2_HUMAN	518	H	R	Disease	Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
Q86UE8	TLK2_HUMAN	297	G	D	Unclassified	Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
Q86UE8	TLK2_HUMAN	339	R	Q	Unclassified	Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
Q86UE8	TLK2_HUMAN	95	A	G	Polymorphism	-
Q86UE8	TLK2_HUMAN	339	R	W	Unclassified	Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
Q86UE8	TLK2_HUMAN	447	E	K	Unclassified	Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
Q86UG4	SO6A1_HUMAN	381	K	R	Polymorphism	-
Q86UG4	SO6A1_HUMAN	654	T	R	Polymorphism	-
Q86UG4	SO6A1_HUMAN	527	P	A	Polymorphism	-
Q86UG4	SO6A1_HUMAN	27	A	V	Polymorphism	-
Q86UK0	ABCAC_HUMAN	1539	E	K	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	1251	G	D	Polymorphism	-
Q86UK0	ABCAC_HUMAN	1381	G	E	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	1514	R	H	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	1651	G	S	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	1798	P	L	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	777	S	T	Polymorphism	-
Q86UK0	ABCAC_HUMAN	1380	N	S	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	1546	R	C	Polymorphism	-
Q86UK0	ABCAC_HUMAN	1494	I	T	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	1980	T	K	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	1235	W	S	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	1179	G	R	Disease	Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]
Q86UK0	ABCAC_HUMAN	199	W	C	Polymorphism	-
Q86UK0	ABCAC_HUMAN	345	T	P	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	1136	G	D	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	1559	G	V	Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
Q86UK0	ABCAC_HUMAN	476	A	V	Unclassified	A pancreatic ductal adenocarcinoma sample
Q86UK0	ABCAC_HUMAN	2365	D	N	Polymorphism	-
Q86UK0	ABCAC_HUMAN	2064	E	K	Polymorphism	-
Q86UK0	ABCAC_HUMAN	387	S	N	Disease	Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]
Q86UK0	ABCAC_HUMAN	237	N	H	Polymorphism	-
Q86UK0	ABCAC_HUMAN	459	S	T	Polymorphism	-
Q86UK0	ABCAC_HUMAN	274	Q	R	Polymorphism	-
Q86UK0	ABCAC_HUMAN	550	E	G	Polymorphism	-
Q86UK0	ABCAC_HUMAN	287	R	G	Polymorphism	-
Q86UK5	LBN_HUMAN	994	L	V	Unclassified	A colorectal cancer sample
Q86UK5	LBN_HUMAN	283	I	R	Disease	Ellis-van Creveld syndrome (EVC) [MIM:225500]
Q86UK5	LBN_HUMAN	950	R	W	Disease	Ellis-van Creveld syndrome (EVC) [MIM:225500]
Q86UK5	LBN_HUMAN	630	A	S	Unclassified	A colorectal cancer sample
Q86UK5	LBN_HUMAN	230	S	G	Polymorphism	-
Q86UK5	LBN_HUMAN	699	T	A	Polymorphism	-
Q86UK7	ZN598_HUMAN	725	C	S	Polymorphism	-
Q86UK7	ZN598_HUMAN	608	A	T	Polymorphism	-
Q86UK7	ZN598_HUMAN	637	T	M	Polymorphism	-
Q86UK7	ZN598_HUMAN	453	S	Y	Polymorphism	-
Q86UP2	KTN1_HUMAN	282	V	M	Polymorphism	-
Q86UP2	KTN1_HUMAN	1233	L	M	Polymorphism	-
Q86UP2	KTN1_HUMAN	226	P	R	Unclassified	A breast cancer sample
Q86UP2	KTN1_HUMAN	1316	T	P	Unclassified	A breast cancer sample
Q86UP3	ZFHX4_HUMAN	2036	I	V	Polymorphism	-
Q86UP3	ZFHX4_HUMAN	3033	V	G	Polymorphism	-
Q86UP6	CUZD1_HUMAN	156	G	S	Polymorphism	-
Q86UP8	GTD2A_HUMAN	514	N	H	Polymorphism	-
Q86UQ0	ZN589_HUMAN	12	T	A	Polymorphism	-
Q86UQ0	ZN589_HUMAN	216	T	R	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	555	R	H	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	767	I	S	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	2537	S	A	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	1434	I	V	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	1540	F	L	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	799	E	K	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	3142	A	V	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	3851	Y	F	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	2674	R	W	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	2178	A	E	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	1508	T	I	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	1889	I	K	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	4277	N	D	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	506	P	L	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	4302	Q	R	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	2033	N	D	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	2436	K	R	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	2212	L	S	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	4335	P	A	Polymorphism	-
Q86UQ4	ABCAD_HUMAN	2154	S	L	Polymorphism	-
Q86UQ8	NFE4_HUMAN	45	A	D	Polymorphism	-
Q86UQ8	NFE4_HUMAN	116	Q	R	Polymorphism	-
Q86UR1	NOXA1_HUMAN	286	P	L	Polymorphism	-
Q86UR5	RIMS1_HUMAN	820	R	H	Disease	Cone-rod dystrophy 7 (CORD7) [MIM:603649]
Q86US8	EST1A_HUMAN	1233	H	R	Polymorphism	-
Q86US8	EST1A_HUMAN	291	R	P	Polymorphism	-
Q86US8	EST1A_HUMAN	1189	E	K	Polymorphism	-
Q86US8	EST1A_HUMAN	984	R	C	Polymorphism	-
Q86US8	EST1A_HUMAN	294	K	Q	Polymorphism	-
Q86US8	EST1A_HUMAN	972	A	T	Polymorphism	-
Q86US8	EST1A_HUMAN	575	N	S	Polymorphism	-
Q86US8	EST1A_HUMAN	341	N	T	Polymorphism	-
Q86UT6	NLRX1_HUMAN	843	A	S	Polymorphism	-
Q86UT6	NLRX1_HUMAN	793	A	E	Polymorphism	-
Q86UT6	NLRX1_HUMAN	63	P	S	Polymorphism	-
Q86UT6	NLRX1_HUMAN	125	R	L	Polymorphism	-
Q86UT8	CCD84_HUMAN	244	W	G	Polymorphism	-
Q86UV5	UBP48_HUMAN	125	S	C	Polymorphism	-
Q86UV5	UBP48_HUMAN	135	E	K	Polymorphism	-
Q86UV6	TRI74_HUMAN	13	W	R	Polymorphism	-
Q86UW1	OSTA_HUMAN	202	V	I	Polymorphism	-
Q86UW6	N4BP2_HUMAN	611	D	N	Polymorphism	-
Q86UW6	N4BP2_HUMAN	1587	T	A	Polymorphism	-
Q86UW6	N4BP2_HUMAN	283	P	A	Unclassified	A breast cancer sample
Q86UW6	N4BP2_HUMAN	101	S	I	Polymorphism	-
Q86UW6	N4BP2_HUMAN	196	M	V	Polymorphism	-
Q86UW7	CAPS2_HUMAN	298	A	T	Polymorphism	-
Q86UW9	DTX2_HUMAN	94	A	T	Polymorphism	-
Q86UW9	DTX2_HUMAN	421	T	A	Polymorphism	-
Q86UW9	DTX2_HUMAN	384	G	E	Polymorphism	-
Q86UX2	ITIH5_HUMAN	139	E	K	Polymorphism	-
Q86UX2	ITIH5_HUMAN	207	N	H	Polymorphism	-
Q86UX2	ITIH5_HUMAN	925	F	S	Polymorphism	-
Q86UX2	ITIH5_HUMAN	421	N	H	Polymorphism	-
Q86UX2	ITIH5_HUMAN	570	T	P	Polymorphism	-
Q86UX2	ITIH5_HUMAN	496	V	M	Polymorphism	-
Q86UX2	ITIH5_HUMAN	629	R	C	Polymorphism	-
Q86UX6	ST32C_HUMAN	467	E	K	Polymorphism	-
Q86UX6	ST32C_HUMAN	334	T	A	Polymorphism	-
Q86UX6	ST32C_HUMAN	376	R	H	Unclassified	A colorectal cancer sample
Q86UX6	ST32C_HUMAN	454	A	T	Polymorphism	-
Q86UX7	URP2_HUMAN	599	Q	S	Unclassified	Leukocyte adhesion deficiency 3 (LAD3) [MIM:612840]
Q86UY5	FA83A_HUMAN	237	A	T	Polymorphism	-
Q86UY8	NT5D3_HUMAN	266	A	E	Polymorphism	-
Q86UZ6	ZBT46_HUMAN	11	T	A	Polymorphism	-
Q86V15	CASZ1_HUMAN	38	L	P	Disease	-
Q86V20	SHLD2_HUMAN	747	R	H	Polymorphism	-
Q86V20	SHLD2_HUMAN	132	F	L	Polymorphism	-
Q86V20	SHLD2_HUMAN	550	S	C	Polymorphism	-
Q86V21	AACS_HUMAN	118	I	V	Polymorphism	-
Q86V21	AACS_HUMAN	470	A	V	Polymorphism	-
Q86V24	PAQR2_HUMAN	39	Q	R	Polymorphism	-
Q86V40	TIKI1_HUMAN	428	R	Q	Polymorphism	-
Q86V40	TIKI1_HUMAN	430	P	L	Polymorphism	-
Q86V40	TIKI1_HUMAN	143	R	H	Polymorphism	-
Q86V42	F124A_HUMAN	181	D	H	Polymorphism	-
Q86V48	LUZP1_HUMAN	491	T	I	Polymorphism	-
Q86V48	LUZP1_HUMAN	458	G	S	Polymorphism	-
Q86V48	LUZP1_HUMAN	868	D	N	Polymorphism	-
Q86V48	LUZP1_HUMAN	461	Q	K	Polymorphism	-
Q86V48	LUZP1_HUMAN	317	S	A	Polymorphism	-
Q86V48	LUZP1_HUMAN	1034	S	N	Polymorphism	-
Q86V59	PNM8A_HUMAN	80	S	T	Polymorphism	-
Q86V59	PNM8A_HUMAN	97	C	Y	Polymorphism	-
Q86V71	ZN429_HUMAN	650	H	Y	Polymorphism	-
Q86V85	GP180_HUMAN	32	T	N	Unclassified	A breast cancer sample
Q86V87	F16B2_HUMAN	667	G	R	Polymorphism	-
Q86V87	F16B2_HUMAN	315	T	A	Polymorphism	-
Q86VB7	C163A_HUMAN	342	I	V	Polymorphism	-
Q86VD1	MORC1_HUMAN	153	T	P	Polymorphism	-
Q86VD1	MORC1_HUMAN	836	H	Y	Polymorphism	-
Q86VD1	MORC1_HUMAN	470	F	I	Polymorphism	-
Q86VD1	MORC1_HUMAN	478	M	V	Polymorphism	-
Q86VD1	MORC1_HUMAN	767	S	N	Polymorphism	-
Q86VD1	MORC1_HUMAN	982	S	C	Polymorphism	-
Q86VD1	MORC1_HUMAN	322	K	M	Polymorphism	-
Q86VD1	MORC1_HUMAN	649	M	I	Polymorphism	-
Q86VD1	MORC1_HUMAN	462	D	E	Polymorphism	-
Q86VD1	MORC1_HUMAN	982	S	W	Polymorphism	-
Q86VD7	S2542_HUMAN	39	S	P	Polymorphism	-
Q86VD7	S2542_HUMAN	312	L	M	Polymorphism	-
Q86VD9	PIGZ_HUMAN	487	M	I	Polymorphism	-
Q86VD9	PIGZ_HUMAN	340	R	Q	Polymorphism	-
Q86VD9	PIGZ_HUMAN	417	V	A	Polymorphism	-
Q86VD9	PIGZ_HUMAN	266	A	T	Polymorphism	-
Q86VE3	SATL1_HUMAN	92	W	R	Polymorphism	-
Q86VF2	IGFN1_HUMAN	1095	H	Y	Polymorphism	-
Q86VF2	IGFN1_HUMAN	1056	T	M	Polymorphism	-
Q86VF7	NRAP_HUMAN	1531	L	P	Polymorphism	-
Q86VF7	NRAP_HUMAN	674	A	V	Polymorphism	-
Q86VF7	NRAP_HUMAN	519	N	I	Polymorphism	-
Q86VF7	NRAP_HUMAN	344	A	T	Polymorphism	-
Q86VF7	NRAP_HUMAN	208	V	A	Polymorphism	-
Q86VF7	NRAP_HUMAN	282	A	T	Polymorphism	-
Q86VF7	NRAP_HUMAN	1183	I	V	Polymorphism	-
Q86VF7	NRAP_HUMAN	1643	A	S	Polymorphism	-
Q86VF7	NRAP_HUMAN	186	Q	E	Polymorphism	-
Q86VF7	NRAP_HUMAN	1566	R	C	Polymorphism	-
Q86VF7	NRAP_HUMAN	132	A	S	Polymorphism	-
Q86VF7	NRAP_HUMAN	1022	M	V	Polymorphism	-
Q86VF7	NRAP_HUMAN	1569	D	N	Polymorphism	-
Q86VF7	NRAP_HUMAN	484	D	N	Polymorphism	-
Q86VF7	NRAP_HUMAN	490	S	L	Polymorphism	-
Q86VF7	NRAP_HUMAN	1112	A	V	Polymorphism	-
Q86VF7	NRAP_HUMAN	884	R	C	Polymorphism	-
Q86VF7	NRAP_HUMAN	249	Y	C	Polymorphism	-
Q86VF7	NRAP_HUMAN	647	A	S	Polymorphism	-
Q86VF7	NRAP_HUMAN	360	Q	R	Polymorphism	-
Q86VH2	KIF27_HUMAN	213	I	V	Polymorphism	-
Q86VH2	KIF27_HUMAN	1036	N	D	Polymorphism	-
Q86VH2	KIF27_HUMAN	300	R	Q	Polymorphism	-
Q86VI1	EX3L1_HUMAN	561	Q	E	Polymorphism	-
Q86VI1	EX3L1_HUMAN	75	Y	N	Unclassified	A breast cancer sample
Q86VI1	EX3L1_HUMAN	514	A	D	Unclassified	A breast cancer sample
Q86VI1	EX3L1_HUMAN	634	S	G	Polymorphism	-
Q86VI3	IQGA3_HUMAN	391	R	G	Polymorphism	-
Q86VI3	IQGA3_HUMAN	410	V	L	Polymorphism	-
Q86VI3	IQGA3_HUMAN	770	H	Y	Polymorphism	-
Q86VI3	IQGA3_HUMAN	1061	Q	H	Polymorphism	-
Q86VI3	IQGA3_HUMAN	1097	P	S	Polymorphism	-
Q86VI3	IQGA3_HUMAN	645	D	N	Polymorphism	-
Q86VI3	IQGA3_HUMAN	663	R	C	Polymorphism	-
Q86VL8	S47A2_HUMAN	429	G	R	Polymorphism	-
Q86VM9	ZCH18_HUMAN	368	A	T	Polymorphism	-
Q86VM9	ZCH18_HUMAN	440	R	H	Polymorphism	-
Q86VP1	TAXB1_HUMAN	58	S	N	Polymorphism	-
Q86VP1	TAXB1_HUMAN	457	Q	R	Unclassified	A breast cancer sample
Q86VP1	TAXB1_HUMAN	307	L	I	Polymorphism	-
Q86VP3	PACS2_HUMAN	209	E	K	Disease	Epileptic encephalopathy, early infantile, 66 (EIEE66) [MIM:618067]
Q86VP3	PACS2_HUMAN	493	L	S	Polymorphism	-
Q86VP3	PACS2_HUMAN	185	T	A	Polymorphism	-
Q86VP6	CAND1_HUMAN	952	A	V	Polymorphism	-
Q86VP6	CAND1_HUMAN	803	V	A	Polymorphism	-
Q86VQ0	LCA5_HUMAN	24	L	S	Polymorphism	-
Q86VQ0	LCA5_HUMAN	218	R	G	Unclassified	Leber congenital amaurosis 5 (LCA5) [MIM:604537]
Q86VQ0	LCA5_HUMAN	656	G	D	Polymorphism	-
Q86VQ0	LCA5_HUMAN	26	D	A	Polymorphism	-
Q86VQ0	LCA5_HUMAN	546	A	P	Polymorphism	-
Q86VQ0	LCA5_HUMAN	66	R	Q	Polymorphism	-
Q86VQ3	TXND2_HUMAN	225	A	P	Polymorphism	-
Q86VQ3	TXND2_HUMAN	314	I	L	Polymorphism	-
Q86VQ3	TXND2_HUMAN	357	G	D	Polymorphism	-
Q86VQ3	TXND2_HUMAN	461	A	T	Polymorphism	-
Q86VQ3	TXND2_HUMAN	487	R	T	Polymorphism	-
Q86VQ3	TXND2_HUMAN	341	E	K	Polymorphism	-
Q86VR7	VS10L_HUMAN	356	M	I	Polymorphism	-
Q86VR7	VS10L_HUMAN	592	R	Q	Polymorphism	-
Q86VR7	VS10L_HUMAN	3	N	T	Polymorphism	-
Q86VR7	VS10L_HUMAN	769	G	S	Unclassified	-
Q86VR7	VS10L_HUMAN	631	S	G	Unclassified	-
Q86VR7	VS10L_HUMAN	627	R	H	Polymorphism	-
Q86VR8	FJX1_HUMAN	415	R	H	Polymorphism	-
Q86VR8	FJX1_HUMAN	153	M	L	Polymorphism	-
Q86VS3	IQCH_HUMAN	932	V	L	Polymorphism	-
Q86VS8	HOOK3_HUMAN	670	Y	S	Polymorphism	-
Q86VS8	HOOK3_HUMAN	221	Q	R	Unclassified	A breast cancer sample
Q86VV4	RNB3L_HUMAN	70	T	R	Polymorphism	-
Q86VV4	RNB3L_HUMAN	111	A	D	Polymorphism	-
Q86VV4	RNB3L_HUMAN	271	A	V	Polymorphism	-
Q86VV8	RTTN_HUMAN	126	S	A	Polymorphism	-
Q86VV8	RTTN_HUMAN	1742	H	R	Polymorphism	-
Q86VV8	RTTN_HUMAN	932	L	F	Disease	Microcephaly, short stature, and polymicrogyria with or without seizures (MSSP) [MIM:614833]
Q86VV8	RTTN_HUMAN	1761	F	S	Polymorphism	-
Q86VV8	RTTN_HUMAN	27	C	Y	Disease	Microcephaly, short stature, and polymicrogyria with or without seizures (MSSP) [MIM:614833]
Q86VV8	RTTN_HUMAN	245	K	R	Polymorphism	-
Q86VW0	SESD1_HUMAN	49	Y	F	Polymorphism	-
Q86VW0	SESD1_HUMAN	563	V	A	Polymorphism	-
Q86VW1	S22AG_HUMAN	409	M	T	Polymorphism	-
Q86VW1	S22AG_HUMAN	49	H	R	Polymorphism	-
Q86VW1	S22AG_HUMAN	252	V	A	Polymorphism	-
Q86VW1	S22AG_HUMAN	431	V	I	Polymorphism	-
Q86VW2	ARHGP_HUMAN	397	G	R	Polymorphism	-
Q86VW2	ARHGP_HUMAN	253	C	Y	Polymorphism	-
Q86VW2	ARHGP_HUMAN	506	Q	R	Polymorphism	-
Q86VY4	TSYL5_HUMAN	120	T	S	Polymorphism	-
Q86VY4	TSYL5_HUMAN	365	I	V	Polymorphism	-
Q86VZ4	LRP11_HUMAN	351	R	H	Polymorphism	-
Q86VZ4	LRP11_HUMAN	281	T	M	Polymorphism	-
Q86VZ4	LRP11_HUMAN	92	P	R	Polymorphism	-
Q86VZ4	LRP11_HUMAN	442	G	R	Polymorphism	-
Q86W10	CP4Z1_HUMAN	393	P	L	Polymorphism	-
Q86W11	ZSC30_HUMAN	238	Q	P	Polymorphism	-
Q86W24	NAL14_HUMAN	48	N	T	Polymorphism	-
Q86W24	NAL14_HUMAN	92	K	R	Polymorphism	-
Q86W24	NAL14_HUMAN	954	L	S	Polymorphism	-
Q86W24	NAL14_HUMAN	21	E	K	Polymorphism	-
Q86W24	NAL14_HUMAN	951	S	T	Polymorphism	-
Q86W24	NAL14_HUMAN	808	E	K	Polymorphism	-
Q86W24	NAL14_HUMAN	779	S	C	Unclassified	A breast cancer sample
Q86W24	NAL14_HUMAN	375	A	T	Polymorphism	-
Q86W24	NAL14_HUMAN	86	D	V	Polymorphism	-
Q86W24	NAL14_HUMAN	397	T	I	Polymorphism	-
Q86W24	NAL14_HUMAN	98	S	L	Polymorphism	-
Q86W24	NAL14_HUMAN	511	L	F	Polymorphism	-
Q86W24	NAL14_HUMAN	522	D	G	Polymorphism	-
Q86W24	NAL14_HUMAN	1010	L	F	Polymorphism	-
Q86W24	NAL14_HUMAN	441	V	M	Polymorphism	-
Q86W24	NAL14_HUMAN	1019	M	I	Polymorphism	-
Q86W24	NAL14_HUMAN	55	R	Q	Polymorphism	-
Q86W25	NAL13_HUMAN	781	N	S	Polymorphism	-
Q86W25	NAL13_HUMAN	247	Q	R	Polymorphism	-
Q86W28	NALP8_HUMAN	375	E	V	Unclassified	A breast cancer sample
Q86W28	NALP8_HUMAN	367	Q	E	Polymorphism	-
Q86W28	NALP8_HUMAN	937	K	R	Polymorphism	-
Q86W28	NALP8_HUMAN	234	A	T	Polymorphism	-
Q86W28	NALP8_HUMAN	116	V	L	Polymorphism	-
Q86W28	NALP8_HUMAN	782	V	A	Polymorphism	-
Q86W28	NALP8_HUMAN	651	R	W	Polymorphism	-
Q86W28	NALP8_HUMAN	126	P	R	Unclassified	A breast cancer sample
Q86W28	NALP8_HUMAN	1045	Q	L	Unclassified	A colorectal cancer sample
Q86W28	NALP8_HUMAN	543	A	V	Polymorphism	-
Q86W28	NALP8_HUMAN	268	Q	R	Polymorphism	-
Q86W28	NALP8_HUMAN	25	P	L	Polymorphism	-
Q86W34	AMZ2_HUMAN	30	N	D	Polymorphism	-
Q86W34	AMZ2_HUMAN	146	H	Q	Polymorphism	-
Q86W42	THOC6_HUMAN	46	G	R	Disease	Beaulieu-Boycott-Innes syndrome (BBIS) [MIM:613680]
Q86W47	KCMB4_HUMAN	199	V	I	Polymorphism	-
Q86W50	MET16_HUMAN	479	S	N	Polymorphism	-
Q86W50	MET16_HUMAN	110	G	C	Unclassified	-
Q86W67	F228A_HUMAN	140	Y	C	Polymorphism	-
Q86W92	LIPB1_HUMAN	148	V	L	Polymorphism	-
Q86WA9	S2611_HUMAN	122	Y	C	Polymorphism	-
Q86WB0	NIPA_HUMAN	363	R	H	Polymorphism	-
Q86WB0	NIPA_HUMAN	271	T	A	Polymorphism	-
Q86WB7	UN93A_HUMAN	292	V	I	Polymorphism	-
Q86WB7	UN93A_HUMAN	295	V	M	Polymorphism	-
Q86WB7	UN93A_HUMAN	128	K	Q	Polymorphism	-
Q86WB7	UN93A_HUMAN	387	Y	H	Polymorphism	-
Q86WB7	UN93A_HUMAN	403	M	I	Polymorphism	-
Q86WB7	UN93A_HUMAN	6	R	K	Polymorphism	-
Q86WB7	UN93A_HUMAN	308	V	M	Polymorphism	-
Q86WB7	UN93A_HUMAN	445	V	A	Polymorphism	-
Q86WB7	UN93A_HUMAN	403	M	T	Polymorphism	-
Q86WB7	UN93A_HUMAN	409	V	I	Polymorphism	-
Q86WC4	OSTM1_HUMAN	52	L	F	Polymorphism	-
Q86WD7	SPA9_HUMAN	24	A	V	Polymorphism	-
Q86WD7	SPA9_HUMAN	330	V	A	Polymorphism	-
Q86WD7	SPA9_HUMAN	292	R	I	Polymorphism	-
Q86WD7	SPA9_HUMAN	218	P	L	Polymorphism	-
Q86WD7	SPA9_HUMAN	236	H	Q	Polymorphism	-
Q86WG3	ATCAY_HUMAN	301	S	R	Disease	Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]
Q86WG5	MTMRD_HUMAN	1216	Q	E	Polymorphism	-
Q86WG5	MTMRD_HUMAN	303	P	L	Polymorphism	-
Q86WG5	MTMRD_HUMAN	679	E	K	Polymorphism	-
Q86WH2	RASF3_HUMAN	232	R	H	Polymorphism	-
Q86WI1	PKHL1_HUMAN	440	Y	H	Polymorphism	-
Q86WI1	PKHL1_HUMAN	943	Y	H	Polymorphism	-
Q86WI1	PKHL1_HUMAN	4220	V	I	Polymorphism	-
Q86WI1	PKHL1_HUMAN	3607	D	E	Polymorphism	-
Q86WI1	PKHL1_HUMAN	1192	T	A	Polymorphism	-
Q86WI1	PKHL1_HUMAN	373	W	C	Polymorphism	-
Q86WI1	PKHL1_HUMAN	1539	T	R	Polymorphism	-
Q86WI1	PKHL1_HUMAN	3050	H	Q	Polymorphism	-
Q86WI1	PKHL1_HUMAN	1514	R	S	Polymorphism	-
Q86WI1	PKHL1_HUMAN	3862	L	F	Polymorphism	-
Q86WI1	PKHL1_HUMAN	957	A	E	Polymorphism	-
Q86WI1	PKHL1_HUMAN	3411	I	V	Polymorphism	-
Q86WI1	PKHL1_HUMAN	3080	V	I	Polymorphism	-
Q86WI1	PKHL1_HUMAN	923	H	R	Polymorphism	-
Q86WI1	PKHL1_HUMAN	1965	V	L	Polymorphism	-
Q86WI3	NLRC5_HUMAN	1455	V	A	Polymorphism	-
Q86WI3	NLRC5_HUMAN	500	C	R	Polymorphism	-
Q86WI3	NLRC5_HUMAN	453	P	L	Polymorphism	-
Q86WI3	NLRC5_HUMAN	1105	Q	K	Polymorphism	-
Q86WI3	NLRC5_HUMAN	1466	Q	R	Polymorphism	-
Q86WI3	NLRC5_HUMAN	361	M	I	Unclassified	A breast cancer sample
Q86WI3	NLRC5_HUMAN	833	S	N	Polymorphism	-
Q86WI3	NLRC5_HUMAN	907	N	D	Polymorphism	-
Q86WI3	NLRC5_HUMAN	210	S	L	Polymorphism	-
Q86WJ1	CHD1L_HUMAN	649	E	A	Polymorphism	-
Q86WJ1	CHD1L_HUMAN	25	R	P	Polymorphism	-
Q86WJ1	CHD1L_HUMAN	885	S	A	Polymorphism	-
Q86WJ1	CHD1L_HUMAN	743	S	C	Polymorphism	-
Q86WJ1	CHD1L_HUMAN	350	H	Q	Polymorphism	-
Q86WK9	PAQR7_HUMAN	227	V	M	Polymorphism	-
Q86WK9	PAQR7_HUMAN	272	G	R	Polymorphism	-
Q86WN1	FCSD1_HUMAN	681	P	L	Polymorphism	-
Q86WN1	FCSD1_HUMAN	344	N	K	Polymorphism	-
Q86WN2	IFNE_HUMAN	46	Q	H	Polymorphism	-
Q86WP2	GPBP1_HUMAN	122	R	G	Polymorphism	-
Q86WR7	PRSR2_HUMAN	412	A	V	Polymorphism	-
Q86WS4	CL040_HUMAN	13	I	L	Polymorphism	-
Q86WS5	TMPSC_HUMAN	19	Y	H	Polymorphism	-
Q86WS5	TMPSC_HUMAN	62	E	K	Polymorphism	-
Q86WS5	TMPSC_HUMAN	127	A	T	Polymorphism	-
Q86WT1	TT30A_HUMAN	577	K	R	Polymorphism	-
Q86WT1	TT30A_HUMAN	446	V	I	Polymorphism	-
Q86WT6	TRI69_HUMAN	12	D	N	Polymorphism	-
Q86WT6	TRI69_HUMAN	31	V	A	Polymorphism	-
Q86WT6	TRI69_HUMAN	104	K	R	Polymorphism	-
Q86WT6	TRI69_HUMAN	15	D	N	Polymorphism	-
Q86WT6	TRI69_HUMAN	161	T	M	Polymorphism	-
Q86WT6	TRI69_HUMAN	190	A	V	Polymorphism	-
Q86WU2	LDHD_HUMAN	233	R	K	Polymorphism	-
Q86WV1	SKAP1_HUMAN	242	S	G	Polymorphism	-
Q86WV1	SKAP1_HUMAN	161	G	S	Polymorphism	-
Q86WV6	STING_HUMAN	154	N	S	Disease	STING-associated vasculopathy, infantile-onset (SAVI) [MIM:615934]
Q86WV6	STING_HUMAN	232	H	R	Polymorphism	-
Q86WV6	STING_HUMAN	147	V	L	Disease	STING-associated vasculopathy, infantile-onset (SAVI) [MIM:615934]
Q86WV6	STING_HUMAN	155	V	M	Disease	STING-associated vasculopathy, infantile-onset (SAVI) [MIM:615934]
Q86WV6	STING_HUMAN	293	R	Q	Polymorphism	-
Q86WV6	STING_HUMAN	284	R	S	Disease	-
Q86WV6	STING_HUMAN	71	R	H	Polymorphism	-
Q86WW8	COA5_HUMAN	53	A	P	Disease	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (CEMCOX3) [MIM:616500]
Q86WX3	AROS_HUMAN	124	E	A	Polymorphism	-
Q86WZ0	HEAT4_HUMAN	660	V	A	Polymorphism	-
Q86WZ0	HEAT4_HUMAN	643	W	G	Polymorphism	-
Q86WZ0	HEAT4_HUMAN	634	L	H	Polymorphism	-
Q86X02	CDR2L_HUMAN	300	D	E	Polymorphism	-
Q86X19	TMM17_HUMAN	26	G	S	Polymorphism	-
Q86X19	TMM17_HUMAN	102	N	K	Unclassified	-
Q86X24	HORM1_HUMAN	267	T	I	Polymorphism	-
Q86X27	RGPS2_HUMAN	225	N	S	Polymorphism	-
Q86X29	LSR_HUMAN	363	S	N	Polymorphism	-
Q86X40	LRC28_HUMAN	168	R	H	Polymorphism	-
Q86X45	TILB_HUMAN	146	D	H	Disease	Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935]
Q86X45	TILB_HUMAN	466	I	T	Polymorphism	-
Q86X45	TILB_HUMAN	232	T	I	Polymorphism	-
Q86X45	TILB_HUMAN	74	A	P	Disease	Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935]
Q86X51	EZHIP_HUMAN	470	R	K	Polymorphism	-
Q86X52	CHSS1_HUMAN	539	P	R	Disease	Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282]
Q86X52	CHSS1_HUMAN	359	P	S	Polymorphism	-
Q86X52	CHSS1_HUMAN	652	Q	H	Polymorphism	-
Q86X53	ERIC1_HUMAN	403	R	S	Polymorphism	-
Q86X53	ERIC1_HUMAN	365	L	F	Unclassified	A colorectal cancer sample
Q86X59	CQ082_HUMAN	186	L	P	Polymorphism	-
Q86X60	FA72B_HUMAN	82	G	V	Polymorphism	-
Q86X60	FA72B_HUMAN	94	P	L	Polymorphism	-
Q86X67	NUD13_HUMAN	273	M	V	Polymorphism	-
Q86X67	NUD13_HUMAN	81	G	D	Polymorphism	-
Q86X83	COMD2_HUMAN	177	Q	H	Polymorphism	-
Q86X83	COMD2_HUMAN	113	I	L	Polymorphism	-
Q86XA0	MET23_HUMAN	141	L	V	Polymorphism	-
Q86XD5	F131B_HUMAN	307	A	T	Polymorphism	-
Q86XD8	ZFAN4_HUMAN	118	K	T	Polymorphism	-
Q86XD8	ZFAN4_HUMAN	358	H	Y	Polymorphism	-
Q86XD8	ZFAN4_HUMAN	523	T	A	Polymorphism	-
Q86XE0	SNX32_HUMAN	282	A	V	Polymorphism	-
Q86XE0	SNX32_HUMAN	155	H	N	Polymorphism	-
Q86XE0	SNX32_HUMAN	354	S	Y	Polymorphism	-
Q86XE5	HOGA1_HUMAN	257	C	G	Disease	Hyperoxaluria primary 3 (HP3) [MIM:613616]
Q86XE5	HOGA1_HUMAN	287	G	V	Disease	Hyperoxaluria primary 3 (HP3) [MIM:613616]
Q86XF0	DYR2_HUMAN	166	V	I	Polymorphism	-
Q86XH1	DRC11_HUMAN	452	K	R	Polymorphism	-
Q86XH1	DRC11_HUMAN	8	K	M	Polymorphism	-
Q86XH1	DRC11_HUMAN	362	Q	R	Polymorphism	-
Q86XI2	CNDG2_HUMAN	794	T	M	Polymorphism	-
Q86XI2	CNDG2_HUMAN	867	E	D	Polymorphism	-
Q86XI6	PPR3B_HUMAN	48	G	E	Polymorphism	-
Q86XJ1	GA2L3_HUMAN	500	P	T	Polymorphism	-
Q86XJ1	GA2L3_HUMAN	461	L	S	Polymorphism	-
Q86XK2	FBX11_HUMAN	684	G	E	Unclassified	-
Q86XK2	FBX11_HUMAN	840	S	P	Disease	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089]
Q86XK2	FBX11_HUMAN	715	K	Q	Unclassified	-
Q86XK2	FBX11_HUMAN	156	Q	R	Disease	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089]
Q86XK2	FBX11_HUMAN	866	V	M	Unclassified	-
Q86XK2	FBX11_HUMAN	910	D	G	Disease	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089]
Q86XK2	FBX11_HUMAN	905	P	R	Disease	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089]
Q86XK2	FBX11_HUMAN	126	T	S	Polymorphism	-
Q86XK2	FBX11_HUMAN	644	Y	C	Unclassified	-
Q86XK2	FBX11_HUMAN	538	I	V	Disease	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089]
Q86XK2	FBX11_HUMAN	623	T	R	Disease	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089]
Q86XK2	FBX11_HUMAN	715	K	N	Unclassified	-
Q86XK2	FBX11_HUMAN	206	Y	C	Unclassified	-
Q86XK2	FBX11_HUMAN	138	R	S	Disease	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089]
Q86XK2	FBX11_HUMAN	892	A	D	Disease	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089]
Q86XK3	SFR1_HUMAN	19	D	G	Polymorphism	-
Q86XK7	VSIG1_HUMAN	147	V	I	Polymorphism	-
Q86XL3	ANKL2_HUMAN	573	L	V	Disease	Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681]
Q86XL3	ANKL2_HUMAN	148	Q	E	Polymorphism	-
Q86XL3	ANKL2_HUMAN	122	H	Y	Polymorphism	-
Q86XL3	ANKL2_HUMAN	720	R	H	Polymorphism	-
Q86XM0	CTSRD_HUMAN	743	T	S	Polymorphism	-
Q86XM0	CTSRD_HUMAN	504	T	A	Polymorphism	-
Q86XM0	CTSRD_HUMAN	212	M	T	Polymorphism	-
Q86XN6	ZN761_HUMAN	528	G	S	Polymorphism	-
Q86XN6	ZN761_HUMAN	122	I	S	Polymorphism	-
Q86XN6	ZN761_HUMAN	678	I	V	Polymorphism	-
Q86XN6	ZN761_HUMAN	603	E	Q	Polymorphism	-
Q86XN6	ZN761_HUMAN	168	V	I	Polymorphism	-
Q86XN7	PRSR1_HUMAN	571	V	A	Polymorphism	-
Q86XN7	PRSR1_HUMAN	847	S	T	Polymorphism	-
Q86XP0	PA24D_HUMAN	649	A	G	Polymorphism	-
Q86XP0	PA24D_HUMAN	747	R	G	Polymorphism	-
Q86XP0	PA24D_HUMAN	573	R	W	Polymorphism	-
Q86XP0	PA24D_HUMAN	275	P	R	Polymorphism	-
Q86XP0	PA24D_HUMAN	807	R	Q	Polymorphism	-
Q86XP0	PA24D_HUMAN	783	R	Q	Polymorphism	-
Q86XP0	PA24D_HUMAN	434	S	T	Polymorphism	-
Q86XP1	DGKH_HUMAN	1201	V	A	Polymorphism	-
Q86XP6	GKN2_HUMAN	113	S	N	Polymorphism	-
Q86XQ3	CTSR3_HUMAN	204	N	K	Polymorphism	-
Q86XR2	NIBA3_HUMAN	603	G	S	Polymorphism	-
Q86XR2	NIBA3_HUMAN	493	T	M	Polymorphism	-
Q86XR2	NIBA3_HUMAN	543	L	F	Polymorphism	-
Q86XR2	NIBA3_HUMAN	229	I	T	Polymorphism	-
Q86XR5	PRIMA_HUMAN	22	A	V	Unclassified	A colorectal cancer sample
Q86XR8	CEP57_HUMAN	448	R	G	Polymorphism	-
Q86XS5	ANGL5_HUMAN	175	S	P	Polymorphism	-
Q86XT4	TRI50_HUMAN	8	L	P	Polymorphism	-
Q86XU0	ZN677_HUMAN	56	D	N	Polymorphism	-
Q86XU0	ZN677_HUMAN	254	G	E	Polymorphism	-
Q86XX4	FRAS1_HUMAN	1136	E	K	Polymorphism	-
Q86XX4	FRAS1_HUMAN	954	T	M	Polymorphism	-
Q86XX4	FRAS1_HUMAN	2545	D	N	Polymorphism	-
Q86XX4	FRAS1_HUMAN	243	I	V	Polymorphism	-
Q86XX4	FRAS1_HUMAN	429	S	Y	Polymorphism	-
Q86XX4	FRAS1_HUMAN	1023	G	E	Polymorphism	-
Q86XX4	FRAS1_HUMAN	466	L	I	Polymorphism	-
Q86XX4	FRAS1_HUMAN	1626	A	V	Polymorphism	-
Q86XX4	FRAS1_HUMAN	710	I	L	Polymorphism	-
Q86XX4	FRAS1_HUMAN	687	D	G	Polymorphism	-
Q86XX4	FRAS1_HUMAN	817	A	V	Polymorphism	-
Q86XX4	FRAS1_HUMAN	209	P	S	Polymorphism	-
Q86XX4	FRAS1_HUMAN	54	D	H	Polymorphism	-
Q86XX4	FRAS1_HUMAN	32	D	G	Polymorphism	-
Q86XX4	FRAS1_HUMAN	228	Y	H	Polymorphism	-
Q86XX4	FRAS1_HUMAN	590	M	T	Polymorphism	-
Q86Y07	VRK2_HUMAN	167	I	V	Polymorphism	-
Q86Y07	VRK2_HUMAN	157	I	M	Polymorphism	-
Q86Y07	VRK2_HUMAN	50	N	D	Polymorphism	-
Q86Y07	VRK2_HUMAN	211	N	S	Polymorphism	-
Q86Y22	CONA1_HUMAN	287	T	A	Polymorphism	-
Q86Y25	Z354C_HUMAN	546	F	L	Polymorphism	-
Q86Y25	Z354C_HUMAN	250	E	K	Polymorphism	-
Q86Y25	Z354C_HUMAN	553	E	K	Polymorphism	-
Q86Y26	NUTM1_HUMAN	1113	R	H	Polymorphism	-
Q86Y26	NUTM1_HUMAN	973	T	N	Polymorphism	-
Q86Y26	NUTM1_HUMAN	985	P	R	Polymorphism	-
Q86Y26	NUTM1_HUMAN	781	T	M	Polymorphism	-
Q86Y26	NUTM1_HUMAN	785	V	E	Polymorphism	-
Q86Y26	NUTM1_HUMAN	22	P	L	Polymorphism	-
Q86Y29	BAGE3_HUMAN	95	R	T	Polymorphism	-
Q86Y29	BAGE3_HUMAN	106	Q	R	Polymorphism	-
Q86Y30	BAGE2_HUMAN	106	R	Q	Polymorphism	-
Q86Y30	BAGE2_HUMAN	95	R	T	Polymorphism	-
Q86Y33	CD20B_HUMAN	496	S	A	Polymorphism	-
Q86Y33	CD20B_HUMAN	8	T	P	Polymorphism	-
Q86Y33	CD20B_HUMAN	17	E	K	Polymorphism	-
Q86Y33	CD20B_HUMAN	121	R	C	Polymorphism	-
Q86Y33	CD20B_HUMAN	503	R	W	Polymorphism	-
Q86Y33	CD20B_HUMAN	97	T	S	Polymorphism	-
Q86Y34	AGRG3_HUMAN	430	A	T	Polymorphism	-
Q86Y38	XYLT1_HUMAN	766	P	A	Polymorphism	-
Q86Y38	XYLT1_HUMAN	892	R	Q	Polymorphism	-
Q86Y38	XYLT1_HUMAN	481	R	W	Disease	Desbuquois dysplasia 2 (DBQD2) [MIM:615777]
Q86Y38	XYLT1_HUMAN	325	P	R	Polymorphism	-
Q86Y38	XYLT1_HUMAN	665	T	M	Polymorphism	-
Q86Y38	XYLT1_HUMAN	406	R	W	Polymorphism	-
Q86Y38	XYLT1_HUMAN	839	V	I	Polymorphism	-
Q86Y38	XYLT1_HUMAN	598	R	C	Disease	Desbuquois dysplasia 2 (DBQD2) [MIM:615777]
Q86Y38	XYLT1_HUMAN	115	A	S	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
Q86Y46	K2C73_HUMAN	212	R	H	Unclassified	A colorectal cancer sample
Q86Y46	K2C73_HUMAN	96	P	L	Polymorphism	-
Q86Y46	K2C73_HUMAN	365	E	G	Polymorphism	-
Q86Y46	K2C73_HUMAN	61	V	M	Polymorphism	-
Q86Y46	K2C73_HUMAN	248	T	M	Unclassified	A colorectal cancer sample
Q86Y56	DAAF5_HUMAN	560	R	C	Polymorphism	-
Q86Y56	DAAF5_HUMAN	632	V	A	Polymorphism	-
Q86Y56	DAAF5_HUMAN	795	L	P	Disease	Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874]
Q86Y56	DAAF5_HUMAN	743	R	K	Polymorphism	-
Q86Y82	STX12_HUMAN	88	P	R	Unclassified	A breast cancer sample
Q86Y91	KI18B_HUMAN	506	Q	R	Polymorphism	-
Q86YA3	ZGRF1_HUMAN	410	N	S	Polymorphism	-
Q86YA3	ZGRF1_HUMAN	1568	S	L	Polymorphism	-
Q86YA3	ZGRF1_HUMAN	451	G	E	Polymorphism	-
Q86YA3	ZGRF1_HUMAN	1410	I	T	Polymorphism	-
Q86YA3	ZGRF1_HUMAN	1696	S	C	Polymorphism	-
Q86YA3	ZGRF1_HUMAN	978	T	I	Polymorphism	-
Q86YB7	ECHD2_HUMAN	119	N	D	Polymorphism	-
Q86YB8	ERO1B_HUMAN	465	H	Q	Polymorphism	-
Q86YB8	ERO1B_HUMAN	129	D	V	Polymorphism	-
Q86YC2	PALB2_HUMAN	728	F	L	Polymorphism	-
Q86YC2	PALB2_HUMAN	917	V	A	Polymorphism	-
Q86YC2	PALB2_HUMAN	35	L	P	Disease	Breast cancer (BC) [MIM:114480]
Q86YC2	PALB2_HUMAN	1170	H	Y	Polymorphism	-
Q86YC2	PALB2_HUMAN	37	R	H	Polymorphism	-
Q86YC2	PALB2_HUMAN	1114	Q	H	Polymorphism	-
Q86YC2	PALB2_HUMAN	966	I	V	Polymorphism	-
Q86YC2	PALB2_HUMAN	1143	L	P	Polymorphism	-
Q86YC2	PALB2_HUMAN	712	A	V	Polymorphism	-
Q86YC2	PALB2_HUMAN	672	E	Q	Polymorphism	-
Q86YC2	PALB2_HUMAN	491	A	T	Polymorphism	-
Q86YC2	PALB2_HUMAN	425	V	M	Polymorphism	-
Q86YC2	PALB2_HUMAN	939	L	W	Polymorphism	-
Q86YC2	PALB2_HUMAN	1025	A	T	Polymorphism	-
Q86YC2	PALB2_HUMAN	932	V	M	Polymorphism	-
Q86YC2	PALB2_HUMAN	414	R	Q	Polymorphism	-
Q86YC2	PALB2_HUMAN	219	D	G	Polymorphism	-
Q86YC2	PALB2_HUMAN	46	H	Y	Polymorphism	-
Q86YC2	PALB2_HUMAN	559	Q	R	Polymorphism	-
Q86YC2	PALB2_HUMAN	28	Y	C	Polymorphism	-
Q86YC2	PALB2_HUMAN	515	K	R	Polymorphism	-
Q86YC2	PALB2_HUMAN	1075	S	G	Polymorphism	-
Q86YC2	PALB2_HUMAN	864	P	S	Polymorphism	-
Q86YC2	PALB2_HUMAN	18	K	R	Polymorphism	-
Q86YC2	PALB2_HUMAN	309	I	V	Polymorphism	-
Q86YC2	PALB2_HUMAN	337	L	S	Polymorphism	-
Q86YC2	PALB2_HUMAN	1043	G	A	Polymorphism	-
Q86YC2	PALB2_HUMAN	1105	V	A	Polymorphism	-
Q86YC2	PALB2_HUMAN	998	G	E	Polymorphism	-
Q86YC2	PALB2_HUMAN	334	Y	C	Polymorphism	-
Q86YD3	TMM25_HUMAN	342	Q	R	Polymorphism	-
Q86YD3	TMM25_HUMAN	25	W	C	Polymorphism	-
Q86YD7	F90A1_HUMAN	334	P	L	Polymorphism	-
Q86YD7	F90A1_HUMAN	343	R	S	Polymorphism	-
Q86YD7	F90A1_HUMAN	123	R	G	Polymorphism	-
Q86YD7	F90A1_HUMAN	234	A	E	Polymorphism	-
Q86YD7	F90A1_HUMAN	410	T	A	Polymorphism	-
Q86YD7	F90A1_HUMAN	348	T	I	Polymorphism	-
Q86YE8	ZN573_HUMAN	186	G	A	Polymorphism	-
Q86YE8	ZN573_HUMAN	224	G	A	Polymorphism	-
Q86YF9	DZIP1_HUMAN	736	P	S	Polymorphism	-
Q86YF9	DZIP1_HUMAN	664	M	L	Polymorphism	-
Q86YF9	DZIP1_HUMAN	172	T	M	Polymorphism	-
Q86YH2	Z280B_HUMAN	522	V	G	Polymorphism	-
Q86YH2	Z280B_HUMAN	256	E	A	Polymorphism	-
Q86YH6	DLP1_HUMAN	3	F	L	Polymorphism	-
Q86YH6	DLP1_HUMAN	382	S	L	Disease	Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652]
Q86YI8	PHF13_HUMAN	20	K	E	Polymorphism	-
Q86YJ5	MARH9_HUMAN	257	Q	H	Polymorphism	-
Q86YJ5	MARH9_HUMAN	307	T	P	Polymorphism	-
Q86YJ6	THNS2_HUMAN	41	G	E	Polymorphism	-
Q86YJ6	THNS2_HUMAN	324	R	G	Polymorphism	-
Q86YJ6	THNS2_HUMAN	204	T	N	Polymorphism	-
Q86YJ6	THNS2_HUMAN	108	V	I	Polymorphism	-
Q86YL7	PDPN_HUMAN	147	A	G	Polymorphism	-
Q86YL7	PDPN_HUMAN	105	A	G	Polymorphism	-
Q86YN6	PRGC2_HUMAN	279	V	I	Polymorphism	-
Q86YN6	PRGC2_HUMAN	265	R	Q	Polymorphism	-
Q86YN6	PRGC2_HUMAN	203	A	P	Polymorphism	-
Q86YN6	PRGC2_HUMAN	292	R	S	Polymorphism	-
Q86YP4	P66A_HUMAN	296	N	S	Polymorphism	-
Q86YP4	P66A_HUMAN	17	R	Q	Polymorphism	-
Q86YR6	POTED_HUMAN	172	E	Q	Polymorphism	-
Q86YR6	POTED_HUMAN	113	G	S	Polymorphism	-
Q86YR6	POTED_HUMAN	135	I	V	Polymorphism	-
Q86YR7	MF2L2_HUMAN	254	L	P	Unclassified	A colorectal cancer sample
Q86YR7	MF2L2_HUMAN	359	I	L	Polymorphism	-
Q86YR7	MF2L2_HUMAN	159	T	M	Polymorphism	-
Q86YR7	MF2L2_HUMAN	1039	L	F	Unclassified	A breast cancer sample
Q86YR7	MF2L2_HUMAN	589	F	S	Polymorphism	-
Q86YR7	MF2L2_HUMAN	1015	M	T	Polymorphism	-
Q86YR7	MF2L2_HUMAN	378	Q	L	Polymorphism	-
Q86YR7	MF2L2_HUMAN	622	R	H	Unclassified	A colorectal cancer sample
Q86YR7	MF2L2_HUMAN	772	F	L	Polymorphism	-
Q86YR7	MF2L2_HUMAN	277	N	S	Polymorphism	-
Q86YR7	MF2L2_HUMAN	902	T	A	Polymorphism	-
Q86YT5	S13A5_HUMAN	227	T	M	Disease	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
Q86YT5	S13A5_HUMAN	488	L	P	Disease	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
Q86YT5	S13A5_HUMAN	219	G	R	Disease	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
Q86YT5	S13A5_HUMAN	142	T	M	Disease	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
Q86YT5	S13A5_HUMAN	427	S	L	Disease	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
Q86YT5	S13A5_HUMAN	524	D	H	Disease	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
Q86YT6	MIB1_HUMAN	943	V	F	Disease	Left ventricular non-compaction 7 (LVNC7) [MIM:615092]
Q86YT6	MIB1_HUMAN	174	R	H	Polymorphism	-
Q86YT9	JAML_HUMAN	193	V	A	Polymorphism	-
Q86YT9	JAML_HUMAN	322	I	M	Polymorphism	-
Q86YT9	JAML_HUMAN	94	I	N	Polymorphism	-
Q86YV0	RASL3_HUMAN	251	L	V	Polymorphism	-
Q86YV0	RASL3_HUMAN	594	R	C	Polymorphism	-
Q86YV0	RASL3_HUMAN	825	P	T	Polymorphism	-
Q86YV5	PRAG1_HUMAN	662	P	T	Polymorphism	-
Q86YV5	PRAG1_HUMAN	595	P	A	Polymorphism	-
Q86YV5	PRAG1_HUMAN	814	P	L	Polymorphism	-
Q86YV5	PRAG1_HUMAN	1315	R	H	Polymorphism	-
Q86YV5	PRAG1_HUMAN	1113	A	T	Polymorphism	-
Q86YV5	PRAG1_HUMAN	578	S	C	Polymorphism	-
Q86YV5	PRAG1_HUMAN	1041	V	M	Polymorphism	-
Q86YV5	PRAG1_HUMAN	851	H	R	Polymorphism	-
Q86YV5	PRAG1_HUMAN	404	R	Q	Polymorphism	-
Q86YV5	PRAG1_HUMAN	1003	S	L	Polymorphism	-
Q86YV5	PRAG1_HUMAN	137	R	G	Polymorphism	-
Q86YV5	PRAG1_HUMAN	139	V	I	Polymorphism	-
Q86YV5	PRAG1_HUMAN	569	P	L	Polymorphism	-
Q86YV5	PRAG1_HUMAN	122	L	I	Polymorphism	-
Q86YV6	MYLK4_HUMAN	30	E	Q	Unclassified	A breast infiltrating ductal carcinoma sample
Q86YV6	MYLK4_HUMAN	39	E	A	Polymorphism	-
Q86YV6	MYLK4_HUMAN	373	Q	R	Polymorphism	-
Q86YV6	MYLK4_HUMAN	50	G	R	Polymorphism	-
Q86YV6	MYLK4_HUMAN	217	H	L	Unclassified	A lung squamous cell carcinoma sample
Q86YV6	MYLK4_HUMAN	318	C	Y	Polymorphism	-
Q86YV6	MYLK4_HUMAN	78	A	S	Unclassified	A breast infiltrating ductal carcinoma sample
Q86YV6	MYLK4_HUMAN	126	T	M	Polymorphism	-
Q86YW0	PLCZ1_HUMAN	500	S	L	Polymorphism	-
Q86YW0	PLCZ1_HUMAN	489	I	F	Disease	Spermatogenic failure 17 (SPGF17) [MIM:617214]
Q86YW5	TRML1_HUMAN	231	H	P	Polymorphism	-
Q86YW5	TRML1_HUMAN	6	L	V	Unclassified	A breast cancer sample
Q86YW9	MD12L_HUMAN	401	Q	P	Polymorphism	-
Q86YW9	MD12L_HUMAN	1210	R	Q	Polymorphism	-
Q86YW9	MD12L_HUMAN	464	E	K	Polymorphism	-
Q86YW9	MD12L_HUMAN	903	Q	H	Polymorphism	-
Q86YW9	MD12L_HUMAN	1698	R	Q	Polymorphism	-
Q86YZ3	HORN_HUMAN	85	R	H	Polymorphism	-
Q86YZ3	HORN_HUMAN	122	R	W	Polymorphism	-
Q86YZ3	HORN_HUMAN	799	S	T	Polymorphism	-
Q86YZ3	HORN_HUMAN	273	H	Q	Polymorphism	-
Q86YZ3	HORN_HUMAN	2435	S	G	Polymorphism	-
Q86YZ3	HORN_HUMAN	492	G	R	Polymorphism	-
Q86YZ3	HORN_HUMAN	376	Q	R	Polymorphism	-
Q86YZ3	HORN_HUMAN	664	R	Q	Polymorphism	-
Q86YZ3	HORN_HUMAN	517	Y	C	Polymorphism	-
Q86YZ3	HORN_HUMAN	2461	G	S	Polymorphism	-
Q86YZ3	HORN_HUMAN	473	E	G	Polymorphism	-
Q86YZ3	HORN_HUMAN	427	G	D	Polymorphism	-
Q86YZ3	HORN_HUMAN	167	G	D	Polymorphism	-
Q86Z02	HIPK1_HUMAN	1165	L	V	Polymorphism	-
Q86Z02	HIPK1_HUMAN	310	G	C	Polymorphism	-
Q86Z02	HIPK1_HUMAN	6	Q	R	Polymorphism	-
Q86Z14	KLOTB_HUMAN	747	A	V	Polymorphism	-
Q86Z14	KLOTB_HUMAN	728	R	Q	Polymorphism	-
Q86Z14	KLOTB_HUMAN	906	Y	H	Polymorphism	-
Q86Z14	KLOTB_HUMAN	65	P	A	Polymorphism	-
Q86Z14	KLOTB_HUMAN	1020	Q	K	Polymorphism	-
Q86Z20	CC125_HUMAN	13	V	M	Polymorphism	-
Q8HWS3	RFX6_HUMAN	688	T	A	Polymorphism	-
Q8HWS3	RFX6_HUMAN	743	S	N	Polymorphism	-
Q8HWS3	RFX6_HUMAN	217	S	P	Disease	Mitchell-Riley syndrome (MTCHRS) [MIM:615710]
Q8HWS3	RFX6_HUMAN	181	R	Q	Disease	Mitchell-Riley syndrome (MTCHRS) [MIM:615710]
Q8HWS3	RFX6_HUMAN	17	A	E	Polymorphism	-
Q8HWS3	RFX6_HUMAN	506	V	G	Disease	Mitchell-Riley syndrome (MTCHRS) [MIM:615710]
Q8HWS3	RFX6_HUMAN	6	E	K	Polymorphism	-
Q8IU54	IFNL1_HUMAN	188	N	D	Polymorphism	-
Q8IU60	DCP2_HUMAN	16	L	F	Polymorphism	-
Q8IU68	TMC8_HUMAN	501	V	I	Polymorphism	-
Q8IU68	TMC8_HUMAN	306	N	I	Polymorphism	-
Q8IU80	TMPS6_HUMAN	304	S	L	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	271	R	Q	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	118	A	D	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	446	R	W	Polymorphism	-
Q8IU80	TMPS6_HUMAN	623	S	T	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	510	C	S	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	247	W	C	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	287	T	N	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	510	C	R	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	590	W	R	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	114	E	K	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	674	L	F	Polymorphism	-
Q8IU80	TMPS6_HUMAN	603	G	R	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	335	C	F	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	521	D	N	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	228	G	D	Polymorphism	-
Q8IU80	TMPS6_HUMAN	418	Y	C	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	522	E	K	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	765	P	A	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	795	V	I	Polymorphism	-
Q8IU80	TMPS6_HUMAN	141	Y	C	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	442	G	R	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	736	V	A	Polymorphism	-
Q8IU80	TMPS6_HUMAN	597	R	W	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	521	D	G	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	234	R	S	Unclassified	A breast cancer sample
Q8IU80	TMPS6_HUMAN	763	G	D	Polymorphism	-
Q8IU80	TMPS6_HUMAN	253	K	E	Polymorphism	-
Q8IU80	TMPS6_HUMAN	774	R	C	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	288	S	L	Polymorphism	-
Q8IU80	TMPS6_HUMAN	235	L	P	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	212	I	T	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	606	L	R	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	223	R	H	Unclassified	A breast cancer sample
Q8IU80	TMPS6_HUMAN	605	A	G	Disease	Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
Q8IU80	TMPS6_HUMAN	262	E	K	Polymorphism	-
Q8IU81	I2BP1_HUMAN	24	M	I	Polymorphism	-
Q8IU85	KCC1D_HUMAN	66	I	M	Polymorphism	-
Q8IU89	CERS3_HUMAN	342	D	G	Polymorphism	-
Q8IU89	CERS3_HUMAN	370	R	G	Polymorphism	-
Q8IU89	CERS3_HUMAN	45	Y	C	Polymorphism	-
Q8IU99	CAHM1_HUMAN	86	L	P	Polymorphism	-
Q8IUA0	WFDC8_HUMAN	137	N	S	Polymorphism	-
Q8IUA0	WFDC8_HUMAN	96	M	T	Polymorphism	-
Q8IUA7	ABCA9_HUMAN	1306	K	T	Polymorphism	-
Q8IUA7	ABCA9_HUMAN	1356	G	S	Polymorphism	-
Q8IUA7	ABCA9_HUMAN	353	R	H	Polymorphism	-
Q8IUA7	ABCA9_HUMAN	785	N	S	Polymorphism	-
Q8IUB2	WFDC3_HUMAN	198	G	S	Polymorphism	-
Q8IUB2	WFDC3_HUMAN	36	H	D	Polymorphism	-
Q8IUB3	WF10B_HUMAN	8	L	P	Polymorphism	-
Q8IUC1	KR111_HUMAN	111	C	S	Polymorphism	-
Q8IUC4	RHPN2_HUMAN	70	R	Q	Polymorphism	-
Q8IUC4	RHPN2_HUMAN	342	A	P	Polymorphism	-
Q8IUC6	TCAM1_HUMAN	666	A	T	Polymorphism	-
Q8IUC6	TCAM1_HUMAN	46	M	I	Unclassified	A breast cancer sample
Q8IUC6	TCAM1_HUMAN	75	R	C	Polymorphism	-
Q8IUC6	TCAM1_HUMAN	186	S	L	Disease	Encephalopathy, acute, infection-induced, Herpes-specific, 6 (IIAE6) [MIM:614850]
Q8IUC6	TCAM1_HUMAN	275	L	V	Polymorphism	-
Q8IUC8	GLT13_HUMAN	59	E	D	Polymorphism	-
Q8IUD2	RB6I2_HUMAN	1032	T	A	Polymorphism	-
Q8IUD2	RB6I2_HUMAN	50	S	G	Polymorphism	-
Q8IUD6	RN135_HUMAN	415	W	C	Polymorphism	-
Q8IUD6	RN135_HUMAN	71	H	Q	Polymorphism	-
Q8IUD6	RN135_HUMAN	115	R	K	Polymorphism	-
Q8IUD6	RN135_HUMAN	108	S	P	Polymorphism	-
Q8IUD6	RN135_HUMAN	286	R	H	Unclassified	-
Q8IUE1	TF2LX_HUMAN	197	V	I	Polymorphism	-
Q8IUE6	H2A2B_HUMAN	53	A	T	Unclassified	A breast cancer sample
Q8IUF8	RIOX2_HUMAN	17	A	P	Polymorphism	-
Q8IUF8	RIOX2_HUMAN	201	P	L	Polymorphism	-
Q8IUF8	RIOX2_HUMAN	386	A	T	Polymorphism	-
Q8IUG1	KRA13_HUMAN	92	G	R	Polymorphism	-
Q8IUG1	KRA13_HUMAN	34	C	S	Polymorphism	-
Q8IUG5	MY18B_HUMAN	379	R	Q	Unclassified	A lung small cell carcinoma sample
Q8IUG5	MY18B_HUMAN	2395	G	A	Polymorphism	-
Q8IUG5	MY18B_HUMAN	234	G	V	Unclassified	A lung small cell carcinoma sample
Q8IUG5	MY18B_HUMAN	2294	A	D	Polymorphism	-
Q8IUG5	MY18B_HUMAN	389	W	C	Unclassified	A lung adenocarcinoma sample
Q8IUG5	MY18B_HUMAN	1238	P	T	Unclassified	A lung adenocarcinoma sample
Q8IUG5	MY18B_HUMAN	1708	E	K	Unclassified	A lung adenocarcinoma sample
Q8IUG5	MY18B_HUMAN	1238	P	Q	Unclassified	A lung large cell carcinoma sample
Q8IUG5	MY18B_HUMAN	1095	R	L	Unclassified	A lung adenocarcinoma sample
Q8IUG5	MY18B_HUMAN	1715	E	D	Unclassified	A lung adenocarcinoma sample
Q8IUG5	MY18B_HUMAN	2513	G	S	Polymorphism	-
Q8IUG5	MY18B_HUMAN	590	T	M	Unclassified	A lung large cell carcinoma sample
Q8IUG5	MY18B_HUMAN	1399	I	V	Polymorphism	-
Q8IUG5	MY18B_HUMAN	835	A	G	Unclassified	A lung squamous cell carcinoma sample
Q8IUG5	MY18B_HUMAN	2554	D	E	Unclassified	A lung large cell carcinoma sample
Q8IUG5	MY18B_HUMAN	1119	H	Q	Polymorphism	-
Q8IUG5	MY18B_HUMAN	347	K	N	Unclassified	A lung small cell carcinoma sample
Q8IUG5	MY18B_HUMAN	1195	R	Q	Unclassified	A lung small cell carcinoma sample
Q8IUG5	MY18B_HUMAN	1037	W	S	Polymorphism	-
Q8IUG5	MY18B_HUMAN	2381	R	H	Unclassified	A lung adenocarcinoma sample
Q8IUG5	MY18B_HUMAN	44	G	E	Polymorphism	-
Q8IUG5	MY18B_HUMAN	2532	R	Q	Polymorphism	-
Q8IUG5	MY18B_HUMAN	2295	G	C	Unclassified	A lung small cell carcinoma sample
Q8IUG5	MY18B_HUMAN	925	S	L	Polymorphism	-
Q8IUG5	MY18B_HUMAN	661	W	R	Polymorphism	-
Q8IUG5	MY18B_HUMAN	1970	A	E	Unclassified	A lung small cell carcinoma sample
Q8IUG5	MY18B_HUMAN	177	P	L	Polymorphism	-
Q8IUG5	MY18B_HUMAN	547	W	C	Polymorphism	-
Q8IUG5	MY18B_HUMAN	1444	S	T	Polymorphism	-
Q8IUG5	MY18B_HUMAN	2347	Q	R	Polymorphism	-
Q8IUG5	MY18B_HUMAN	1390	S	F	Polymorphism	-
Q8IUH2	CREG2_HUMAN	96	P	Q	Polymorphism	-
Q8IUH4	ZDH13_HUMAN	99	K	R	Polymorphism	-
Q8IUH4	ZDH13_HUMAN	392	Y	C	Polymorphism	-
Q8IUH5	ZDH17_HUMAN	383	N	S	Polymorphism	-
Q8IUH8	SPP2C_HUMAN	461	R	P	Polymorphism	-
Q8IUH8	SPP2C_HUMAN	620	G	R	Polymorphism	-
Q8IUH8	SPP2C_HUMAN	643	P	R	Polymorphism	-
Q8IUH8	SPP2C_HUMAN	601	S	P	Polymorphism	-
Q8IUH8	SPP2C_HUMAN	303	R	H	Polymorphism	-
Q8IUH8	SPP2C_HUMAN	471	I	V	Polymorphism	-
Q8IUH8	SPP2C_HUMAN	626	M	V	Polymorphism	-
Q8IUH8	SPP2C_HUMAN	659	T	I	Polymorphism	-
Q8IUH8	SPP2C_HUMAN	123	R	Q	Polymorphism	-
Q8IUI8	CRLF3_HUMAN	202	V	M	Polymorphism	-
Q8IUI8	CRLF3_HUMAN	389	L	P	Polymorphism	-
Q8IUK5	PLDX1_HUMAN	462	R	H	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	344	P	A	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	147	F	S	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	208	G	C	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	317	M	L	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	472	P	S	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	257	E	K	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	777	T	I	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	293	W	R	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	587	T	M	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	702	N	D	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	750	D	Y	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	359	T	I	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	296	C	R	Polymorphism	-
Q8IUM7	NPAS4_HUMAN	500	Q	K	Polymorphism	-
Q8IUN9	CLC10_HUMAN	203	A	G	Polymorphism	-
Q8IUN9	CLC10_HUMAN	73	R	K	Polymorphism	-
Q8IUN9	CLC10_HUMAN	100	T	M	Polymorphism	-
Q8IUN9	CLC10_HUMAN	35	C	R	Polymorphism	-
Q8IUR0	TPPC5_HUMAN	52	S	A	Polymorphism	-
Q8IUR5	TMTC1_HUMAN	814	V	L	Polymorphism	-
Q8IUR6	CRERF_HUMAN	483	T	A	Polymorphism	-
Q8IUS5	EPHX4_HUMAN	321	Y	F	Polymorphism	-
Q8IUX1	T126B_HUMAN	198	A	V	Polymorphism	-
Q8IUX1	T126B_HUMAN	212	G	V	Disease	Mitochondrial complex I deficiency, nuclear type 29 (MC1DN29) [MIM:618250]
Q8IUX4	ABC3F_HUMAN	97	P	L	Polymorphism	-
Q8IUX4	ABC3F_HUMAN	48	R	P	Polymorphism	-
Q8IUX4	ABC3F_HUMAN	231	V	I	Polymorphism	-
Q8IUX4	ABC3F_HUMAN	307	Y	C	Polymorphism	-
Q8IUX4	ABC3F_HUMAN	178	A	T	Polymorphism	-
Q8IUX4	ABC3F_HUMAN	61	Q	L	Polymorphism	-
Q8IUX4	ABC3F_HUMAN	108	A	S	Polymorphism	-
Q8IUX7	AEBP1_HUMAN	648	D	E	Polymorphism	-
Q8IUX7	AEBP1_HUMAN	273	P	T	Polymorphism	-
Q8IUX7	AEBP1_HUMAN	1133	K	E	Polymorphism	-
Q8IUX7	AEBP1_HUMAN	1001	P	L	Polymorphism	-
Q8IUX7	AEBP1_HUMAN	1148	V	I	Polymorphism	-
Q8IUX8	EGFL6_HUMAN	535	D	N	Polymorphism	-
Q8IUX8	EGFL6_HUMAN	164	R	C	Polymorphism	-
Q8IUX8	EGFL6_HUMAN	508	L	F	Polymorphism	-
Q8IUX8	EGFL6_HUMAN	66	E	K	Polymorphism	-
Q8IUZ5	AT2L2_HUMAN	126	H	R	Polymorphism	-
Q8IUZ5	AT2L2_HUMAN	240	G	R	Disease	Phosphohydroxylysinuria (PHLU) [MIM:615011]
Q8IUZ5	AT2L2_HUMAN	437	E	V	Disease	Phosphohydroxylysinuria (PHLU) [MIM:615011]
Q8IV01	SYT12_HUMAN	170	N	H	Polymorphism	-
Q8IV03	LUR1L_HUMAN	62	S	G	Polymorphism	-
Q8IV08	PLD3_HUMAN	175	A	G	Polymorphism	-
Q8IV08	PLD3_HUMAN	426	T	A	Polymorphism	-
Q8IV08	PLD3_HUMAN	249	E	G	Polymorphism	-
Q8IV08	PLD3_HUMAN	297	P	L	Polymorphism	-
Q8IV08	PLD3_HUMAN	358	V	I	Polymorphism	-
Q8IV08	PLD3_HUMAN	242	R	Q	Polymorphism	-
Q8IV08	PLD3_HUMAN	188	R	C	Polymorphism	-
Q8IV08	PLD3_HUMAN	63	G	S	Polymorphism	-
Q8IV08	PLD3_HUMAN	173	P	S	Polymorphism	-
Q8IV08	PLD3_HUMAN	159	V	M	Polymorphism	-
Q8IV08	PLD3_HUMAN	222	R	H	Polymorphism	-
Q8IV08	PLD3_HUMAN	162	R	C	Polymorphism	-
Q8IV08	PLD3_HUMAN	293	A	V	Polymorphism	-
Q8IV08	PLD3_HUMAN	429	G	R	Polymorphism	-
Q8IV08	PLD3_HUMAN	300	C	Y	Polymorphism	-
Q8IV08	PLD3_HUMAN	232	V	M	Unclassified	-
Q8IV08	PLD3_HUMAN	284	N	S	Polymorphism	-
Q8IV08	PLD3_HUMAN	272	R	C	Polymorphism	-
Q8IV08	PLD3_HUMAN	308	L	P	Unclassified	Spinocerebellar ataxia 46 (SCA46) [MIM:617770]
Q8IV08	PLD3_HUMAN	76	P	A	Polymorphism	-
Q8IV13	CCNJL_HUMAN	234	H	Y	Polymorphism	-
Q8IV16	HDBP1_HUMAN	83	C	R	Disease	Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]
Q8IV16	HDBP1_HUMAN	65	C	S	Disease	Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]
Q8IV16	HDBP1_HUMAN	14	C	F	Polymorphism	-
Q8IV16	HDBP1_HUMAN	56	G	R	Polymorphism	-
Q8IV16	HDBP1_HUMAN	65	C	Y	Disease	Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]
Q8IV16	HDBP1_HUMAN	89	C	F	Disease	Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]
Q8IV16	HDBP1_HUMAN	68	C	G	Disease	Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]
Q8IV16	HDBP1_HUMAN	68	C	Y	Disease	Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]
Q8IV16	HDBP1_HUMAN	68	C	R	Unclassified	Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]
Q8IV16	HDBP1_HUMAN	115	Q	P	Disease	Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]
Q8IV16	HDBP1_HUMAN	108	T	R	Disease	Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]
Q8IV16	HDBP1_HUMAN	175	G	R	Disease	Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]
Q8IV16	HDBP1_HUMAN	144	S	F	Disease	Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]
Q8IV20	LACC1_HUMAN	284	C	R	Unclassified	Rheumatoid arthritis systemic juvenile (RASJ) [MIM:604302]
Q8IV20	LACC1_HUMAN	254	I	V	Polymorphism	-
Q8IV32	CCD71_HUMAN	317	Q	L	Polymorphism	-
Q8IV32	CCD71_HUMAN	339	W	R	Polymorphism	-
Q8IV33	K0825_HUMAN	46	K	E	Polymorphism	-
Q8IV35	WDR49_HUMAN	10	R	H	Unclassified	A colorectal cancer sample
Q8IV35	WDR49_HUMAN	651	L	P	Polymorphism	-
Q8IV42	PSTK_HUMAN	206	G	R	Polymorphism	-
Q8IV45	UN5CL_HUMAN	432	R	G	Polymorphism	-
Q8IV48	ERI1_HUMAN	16	L	P	Polymorphism	-
Q8IV50	LYSM2_HUMAN	164	S	F	Polymorphism	-
Q8IV50	LYSM2_HUMAN	107	I	V	Polymorphism	-
Q8IV53	DEN1C_HUMAN	542	A	V	Polymorphism	-
Q8IV53	DEN1C_HUMAN	23	A	T	Polymorphism	-
Q8IV53	DEN1C_HUMAN	489	R	C	Polymorphism	-
Q8IV56	PRR15_HUMAN	115	P	S	Polymorphism	-
Q8IV61	GRP3_HUMAN	393	T	A	Polymorphism	-
Q8IV63	VRK3_HUMAN	171	F	L	Polymorphism	-
Q8IV63	VRK3_HUMAN	371	S	G	Polymorphism	-
Q8IV63	VRK3_HUMAN	370	R	C	Polymorphism	-
Q8IV63	VRK3_HUMAN	188	T	A	Polymorphism	-
Q8IV63	VRK3_HUMAN	170	S	P	Polymorphism	-
Q8IV63	VRK3_HUMAN	288	C	Y	Polymorphism	-
Q8IV63	VRK3_HUMAN	105	P	T	Polymorphism	-
Q8IV63	VRK3_HUMAN	304	H	L	Polymorphism	-
Q8IV63	VRK3_HUMAN	59	S	F	Polymorphism	-
Q8IV63	VRK3_HUMAN	268	S	L	Polymorphism	-
Q8IV76	PASD1_HUMAN	213	Q	E	Polymorphism	-
Q8IV77	CNGA4_HUMAN	553	E	V	Polymorphism	-
Q8IVB4	SL9A9_HUMAN	540	I	V	Polymorphism	-
Q8IVB4	SL9A9_HUMAN	589	I	V	Polymorphism	-
Q8IVC4	ZN584_HUMAN	142	P	S	Polymorphism	-
Q8IVC4	ZN584_HUMAN	301	T	A	Polymorphism	-
Q8IVD9	NUDC3_HUMAN	3	T	P	Polymorphism	-
Q8IVD9	NUDC3_HUMAN	235	R	C	Polymorphism	-
Q8IVE3	PKHH2_HUMAN	481	P	T	Polymorphism	-
Q8IVE3	PKHH2_HUMAN	1217	N	S	Polymorphism	-
Q8IVE3	PKHH2_HUMAN	228	M	V	Polymorphism	-
Q8IVE3	PKHH2_HUMAN	1069	R	K	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	3793	D	N	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	3654	G	E	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	2430	L	V	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	4198	D	N	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	4478	P	L	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	2429	D	E	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	3176	D	E	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	1298	M	I	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	1266	V	M	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	1470	L	V	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	5139	G	E	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	4085	A	V	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	2503	E	A	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	3869	M	V	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	5184	Y	D	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	4326	L	P	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	2115	S	R	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	2146	L	V	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	3177	L	V	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	2862	R	S	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	1856	E	D	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	3902	K	N	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	4536	M	L	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	4138	F	L	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	4278	V	A	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	3336	P	L	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	5564	G	R	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	3363	V	A	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	525	T	A	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	5732	T	M	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	5397	P	A	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	4664	T	A	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	4232	K	N	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	2107	M	V	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	4071	I	M	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	2410	K	R	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	5028	L	M	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	5072	G	R	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	3796	V	L	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	3961	M	V	Polymorphism	-
Q8IVF2	AHNK2_HUMAN	2616	V	A	Polymorphism	-
Q8IVF4	DYH10_HUMAN	167	S	P	Polymorphism	-
Q8IVF4	DYH10_HUMAN	1724	T	M	Polymorphism	-
Q8IVF4	DYH10_HUMAN	480	I	V	Polymorphism	-
Q8IVF4	DYH10_HUMAN	1767	D	E	Polymorphism	-
Q8IVF4	DYH10_HUMAN	1865	R	K	Polymorphism	-
Q8IVF4	DYH10_HUMAN	1986	T	M	Polymorphism	-
Q8IVF4	DYH10_HUMAN	2483	N	S	Polymorphism	-
Q8IVF4	DYH10_HUMAN	2403	R	W	Polymorphism	-
Q8IVF5	TIAM2_HUMAN	332	R	H	Polymorphism	-
Q8IVF5	TIAM2_HUMAN	1089	S	P	Polymorphism	-
Q8IVF5	TIAM2_HUMAN	1572	D	E	Polymorphism	-
Q8IVF5	TIAM2_HUMAN	1101	R	C	Polymorphism	-
Q8IVF5	TIAM2_HUMAN	913	R	H	Polymorphism	-
Q8IVF6	AN18A_HUMAN	130	E	K	Polymorphism	-
Q8IVF6	AN18A_HUMAN	484	N	S	Polymorphism	-
Q8IVF6	AN18A_HUMAN	945	E	D	Polymorphism	-
Q8IVF6	AN18A_HUMAN	277	A	E	Polymorphism	-
Q8IVF6	AN18A_HUMAN	838	E	D	Polymorphism	-
Q8IVF6	AN18A_HUMAN	688	Y	C	Polymorphism	-
Q8IVF6	AN18A_HUMAN	942	T	I	Polymorphism	-
Q8IVG5	SAM9L_HUMAN	1137	G	A	Polymorphism	-
Q8IVG5	SAM9L_HUMAN	1196	C	S	Unclassified	Ataxia-pancytopenia syndrome (ATXPC) [MIM:159550]
Q8IVG5	SAM9L_HUMAN	880	H	Q	Disease	Ataxia-pancytopenia syndrome (ATXPC) [MIM:159550]
Q8IVG5	SAM9L_HUMAN	1516	N	T	Polymorphism	-
Q8IVG5	SAM9L_HUMAN	266	V	I	Polymorphism	-
Q8IVG5	SAM9L_HUMAN	289	F	S	Polymorphism	-
Q8IVH2	FOXP4_HUMAN	464	A	T	Unclassified	A breast cancer sample
Q8IVH4	MMAA_HUMAN	258	D	N	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	89	L	P	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	207	Y	C	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	218	G	E	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	196	R	Q	Unclassified	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	274	G	D	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	276	K	E	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	363	Q	H	Polymorphism	-
Q8IVH4	MMAA_HUMAN	220	V	M	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	209	R	S	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	250	E	K	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	287	A	D	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	359	R	G	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	241	I	F	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	192	G	D	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	292	D	V	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	399	G	V	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	243	T	N	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	188	G	R	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	359	R	Q	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	147	G	E	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	274	G	S	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	145	R	Q	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH4	MMAA_HUMAN	98	R	G	Disease	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q8IVH8	M4K3_HUMAN	669	T	S	Unclassified	A lung squamous cell carcinoma sample
Q8IVH8	M4K3_HUMAN	200	V	L	Polymorphism	-
Q8IVH8	M4K3_HUMAN	424	H	Q	Polymorphism	-
Q8IVI9	NOSTN_HUMAN	473	G	E	Polymorphism	-
Q8IVJ8	APRG1_HUMAN	107	H	Y	Polymorphism	-
Q8IVL0	NAV3_HUMAN	2200	E	K	Unclassified	-
Q8IVL0	NAV3_HUMAN	210	S	W	Polymorphism	-
Q8IVL0	NAV3_HUMAN	45	T	A	Polymorphism	-
Q8IVL1	NAV2_HUMAN	491	Q	H	Polymorphism	-
Q8IVL1	NAV2_HUMAN	2374	V	I	Polymorphism	-
Q8IVL1	NAV2_HUMAN	1041	E	D	Polymorphism	-
Q8IVL1	NAV2_HUMAN	109	R	K	Polymorphism	-
Q8IVL1	NAV2_HUMAN	1077	P	A	Polymorphism	-
Q8IVL5	P3H2_HUMAN	508	G	V	Disease	Myopia, high, with cataract and vitreoretinal degeneration (MCVD) [MIM:614292]
Q8IVL5	P3H2_HUMAN	613	D	N	Unclassified	A breast cancer sample
Q8IVL6	P3H3_HUMAN	705	M	T	Polymorphism	-
Q8IVL6	P3H3_HUMAN	301	T	A	Polymorphism	-
Q8IVL6	P3H3_HUMAN	385	G	E	Polymorphism	-
Q8IVL6	P3H3_HUMAN	304	R	C	Polymorphism	-
Q8IVL6	P3H3_HUMAN	685	I	T	Polymorphism	-
Q8IVL8	CBPO_HUMAN	273	K	N	Unclassified	A colorectal cancer sample
Q8IVL8	CBPO_HUMAN	134	S	R	Polymorphism	-
Q8IVL8	CBPO_HUMAN	85	M	I	Polymorphism	-
Q8IVM0	CCD50_HUMAN	156	M	T	Polymorphism	-
Q8IVM0	CCD50_HUMAN	121	L	F	Polymorphism	-
Q8IVM7	CM029_HUMAN	154	R	Q	Polymorphism	-
Q8IVM8	S22A9_HUMAN	487	M	V	Unclassified	A breast cancer sample
Q8IVM8	S22A9_HUMAN	521	N	K	Unclassified	A colorectal cancer sample
Q8IVM8	S22A9_HUMAN	393	A	V	Unclassified	A breast cancer sample
Q8IVN8	SBSPO_HUMAN	58	F	L	Polymorphism	-
Q8IVN8	SBSPO_HUMAN	186	W	R	Polymorphism	-
Q8IVP5	FUND1_HUMAN	56	M	V	Polymorphism	-
Q8IVS2	FABD_HUMAN	303	A	G	Polymorphism	-
Q8IVS8	GLCTK_HUMAN	170	L	V	Polymorphism	-
Q8IVS8	GLCTK_HUMAN	394	T	I	Polymorphism	-
Q8IVS8	GLCTK_HUMAN	493	F	C	Disease	D-glyceric aciduria (D-GA) [MIM:220120]
Q8IVS8	GLCTK_HUMAN	27	R	C	Polymorphism	-
Q8IVT2	MISP_HUMAN	269	S	N	Polymorphism	-
Q8IVT2	MISP_HUMAN	232	K	R	Polymorphism	-
Q8IVT2	MISP_HUMAN	653	E	G	Polymorphism	-
Q8IVT2	MISP_HUMAN	99	A	T	Polymorphism	-
Q8IVT2	MISP_HUMAN	156	S	G	Polymorphism	-
Q8IVT5	KSR1_HUMAN	227	S	P	Polymorphism	-
Q8IVT5	KSR1_HUMAN	359	V	A	Polymorphism	-
Q8IVT5	KSR1_HUMAN	663	Q	H	Polymorphism	-
Q8IVU1	IGDC3_HUMAN	751	V	L	Polymorphism	-
Q8IVU3	HERC6_HUMAN	343	F	L	Polymorphism	-
Q8IVU3	HERC6_HUMAN	199	C	R	Polymorphism	-
Q8IVU3	HERC6_HUMAN	123	M	T	Polymorphism	-
Q8IVU3	HERC6_HUMAN	614	T	I	Polymorphism	-
Q8IVV2	LOXH1_HUMAN	632	G	C	Polymorphism	-
Q8IVV2	LOXH1_HUMAN	825	V	M	Polymorphism	-
Q8IVV2	LOXH1_HUMAN	1177	T	M	Polymorphism	-
Q8IVV2	LOXH1_HUMAN	1417	E	G	Polymorphism	-
Q8IVV2	LOXH1_HUMAN	676	D	G	Polymorphism	-
Q8IVV2	LOXH1_HUMAN	626	G	C	Polymorphism	-
Q8IVV2	LOXH1_HUMAN	363	V	I	Polymorphism	-
Q8IVV8	NKAI4_HUMAN	131	A	D	Polymorphism	-
Q8IVV8	NKAI4_HUMAN	173	E	D	Polymorphism	-
Q8IVV8	NKAI4_HUMAN	91	K	Q	Polymorphism	-
Q8IVV8	NKAI4_HUMAN	151	C	G	Polymorphism	-
Q8IVW1	ARL17_HUMAN	170	L	I	Polymorphism	-
Q8IVW4	CDKL3_HUMAN	394	M	T	Polymorphism	-
Q8IVY1	CA210_HUMAN	12	S	L	Polymorphism	-
Q8IW00	VSTM4_HUMAN	243	K	R	Polymorphism	-
Q8IW00	VSTM4_HUMAN	68	F	S	Polymorphism	-
Q8IW00	VSTM4_HUMAN	100	R	H	Unclassified	A colorectal cancer sample
Q8IW19	APLF_HUMAN	336	L	F	Polymorphism	-
Q8IW19	APLF_HUMAN	224	S	T	Polymorphism	-
Q8IW19	APLF_HUMAN	100	I	V	Polymorphism	-
Q8IW36	ZN695_HUMAN	87	V	A	Polymorphism	-
Q8IW36	ZN695_HUMAN	84	R	K	Polymorphism	-
Q8IW36	ZN695_HUMAN	110	M	I	Polymorphism	-
Q8IW40	CC103_HUMAN	154	H	P	Unclassified	Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679]
Q8IW41	MAPK5_HUMAN	67	M	I	Polymorphism	-
Q8IW41	MAPK5_HUMAN	282	R	K	Polymorphism	-
Q8IW45	NNRD_HUMAN	152	P	T	Polymorphism	-
Q8IW45	NNRD_HUMAN	149	V	I	Polymorphism	-
Q8IW45	NNRD_HUMAN	140	K	E	Polymorphism	-
Q8IW52	SLIK4_HUMAN	578	I	V	Unclassified	-
Q8IW52	SLIK4_HUMAN	206	V	I	Unclassified	-
Q8IW75	SPA12_HUMAN	394	I	V	Polymorphism	-
Q8IW75	SPA12_HUMAN	219	D	G	Polymorphism	-
Q8IW75	SPA12_HUMAN	142	Q	K	Polymorphism	-
Q8IW93	ARHGJ_HUMAN	238	E	Q	Polymorphism	-
Q8IW93	ARHGJ_HUMAN	163	G	R	Polymorphism	-
Q8IWA4	MFN1_HUMAN	523	R	P	Polymorphism	-
Q8IWA4	MFN1_HUMAN	415	D	H	Unclassified	A colorectal cancer sample
Q8IWA5	CTL2_HUMAN	154	Q	R	Polymorphism	-
Q8IWA6	CCD60_HUMAN	393	V	I	Polymorphism	-
Q8IWA6	CCD60_HUMAN	115	T	A	Polymorphism	-
Q8IWA6	CCD60_HUMAN	46	I	V	Polymorphism	-
Q8IWB6	TEX14_HUMAN	559	I	M	Polymorphism	-
Q8IWB6	TEX14_HUMAN	321	K	E	Unclassified	A gastric adenocarcinoma sample
Q8IWB6	TEX14_HUMAN	88	D	G	Polymorphism	-
Q8IWB6	TEX14_HUMAN	443	S	C	Polymorphism	-
Q8IWB9	TEX2_HUMAN	158	T	I	Polymorphism	-
Q8IWC1	MA7D3_HUMAN	502	E	A	Polymorphism	-
Q8IWC1	MA7D3_HUMAN	628	Q	R	Polymorphism	-
Q8IWC1	MA7D3_HUMAN	561	K	R	Polymorphism	-
Q8IWD4	CC117_HUMAN	272	S	N	Polymorphism	-
Q8IWD4	CC117_HUMAN	147	R	S	Polymorphism	-
Q8IWD5	MFS6L_HUMAN	486	R	H	Polymorphism	-
Q8IWE2	NXP20_HUMAN	40	S	L	Polymorphism	-
Q8IWE2	NXP20_HUMAN	446	S	L	Polymorphism	-
Q8IWE2	NXP20_HUMAN	201	P	L	Polymorphism	-
Q8IWE2	NXP20_HUMAN	443	V	I	Polymorphism	-
Q8IWE2	NXP20_HUMAN	367	R	H	Polymorphism	-
Q8IWE2	NXP20_HUMAN	84	G	R	Polymorphism	-
Q8IWE2	NXP20_HUMAN	116	L	P	Polymorphism	-
Q8IWE4	DCNL3_HUMAN	239	S	F	Unclassified	A cancer
Q8IWE4	DCNL3_HUMAN	2	G	S	Unclassified	A cancer
Q8IWE5	PKHM2_HUMAN	32	I	T	Polymorphism	-
Q8IWF2	FXRD2_HUMAN	71	R	C	Polymorphism	-
Q8IWF2	FXRD2_HUMAN	374	K	R	Polymorphism	-
Q8IWF2	FXRD2_HUMAN	308	N	S	Polymorphism	-
Q8IWF2	FXRD2_HUMAN	179	F	L	Polymorphism	-
Q8IWF2	FXRD2_HUMAN	637	E	D	Polymorphism	-
Q8IWF9	CCD83_HUMAN	49	T	A	Polymorphism	-
Q8IWG1	WDR63_HUMAN	674	T	A	Polymorphism	-
Q8IWG1	WDR63_HUMAN	798	R	H	Polymorphism	-
Q8IWI9	MGAP_HUMAN	1270	C	R	Polymorphism	-
Q8IWI9	MGAP_HUMAN	338	T	A	Polymorphism	-
Q8IWI9	MGAP_HUMAN	1523	P	A	Polymorphism	-
Q8IWI9	MGAP_HUMAN	716	T	S	Polymorphism	-
Q8IWJ2	GCC2_HUMAN	1298	R	G	Polymorphism	-
Q8IWJ2	GCC2_HUMAN	1134	Q	E	Polymorphism	-
Q8IWK6	AGRA3_HUMAN	1166	V	G	Polymorphism	-
Q8IWK6	AGRA3_HUMAN	1043	V	M	Polymorphism	-
Q8IWL1	SFPA2_HUMAN	223	Q	K	Polymorphism	-
Q8IWL1	SFPA2_HUMAN	50	V	L	Polymorphism	-
Q8IWL1	SFPA2_HUMAN	91	A	P	Polymorphism	-
Q8IWL1	SFPA2_HUMAN	198	F	S	Disease	Pulmonary fibrosis, idiopathic (IPF) [MIM:178500]
Q8IWL1	SFPA2_HUMAN	231	G	V	Disease	Pulmonary fibrosis, idiopathic (IPF) [MIM:178500]
Q8IWL1	SFPA2_HUMAN	9	N	T	Polymorphism	-
Q8IWL1	SFPA2_HUMAN	12	L	W	Polymorphism	-
Q8IWL2	SFTA1_HUMAN	223	Q	K	Polymorphism	-
Q8IWL2	SFTA1_HUMAN	219	R	W	Polymorphism	-
Q8IWL2	SFTA1_HUMAN	9	N	T	Polymorphism	-
Q8IWL2	SFTA1_HUMAN	19	V	A	Polymorphism	-
Q8IWL2	SFTA1_HUMAN	50	L	V	Polymorphism	-
Q8IWL2	SFTA1_HUMAN	5	P	L	Polymorphism	-
Q8IWL3	HSC20_HUMAN	73	Y	C	Polymorphism	-
Q8IWL3	HSC20_HUMAN	163	I	M	Polymorphism	-
Q8IWL8	STH_HUMAN	7	Q	R	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	45	R	W	Disease	Occult macular dystrophy (OCMD) [MIM:613587]
Q8IWN7	RP1L1_HUMAN	1146	R	W	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1199	S	C	Disease	Occult macular dystrophy (OCMD) [MIM:613587]
Q8IWN7	RP1L1_HUMAN	2091	E	K	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1335	G	R	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1889	D	V	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	2069	G	V	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1946	A	E	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1319	A	G	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	44	P	A	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	960	W	R	Disease	Occult macular dystrophy (OCMD) [MIM:613587]
Q8IWN7	RP1L1_HUMAN	860	R	W	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	2335	H	R	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1816	G	D	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	514	G	S	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1285	A	S	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	222	H	P	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	136	R	H	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1467	R	S	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	2242	E	G	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1483	A	V	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1324	E	G	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	112	T	S	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1709	A	V	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	2088	Q	H	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1505	S	L	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	2285	G	R	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	624	A	T	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	2140	E	K	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	2171	E	K	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1495	P	R	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	795	E	K	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	1954	T	A	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	56	R	C	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	792	L	P	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	487	A	V	Polymorphism	-
Q8IWN7	RP1L1_HUMAN	2199	P	L	Polymorphism	-
Q8IWP9	CC28A_HUMAN	82	P	L	Polymorphism	-
Q8IWP9	CC28A_HUMAN	42	S	Y	Polymorphism	-
Q8IWR0	Z3H7A_HUMAN	3	N	S	Polymorphism	-
Q8IWR0	Z3H7A_HUMAN	57	H	R	Polymorphism	-
Q8IWS0	PHF6_HUMAN	257	R	G	Disease	Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
Q8IWS0	PHF6_HUMAN	229	H	R	Disease	Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
Q8IWS0	PHF6_HUMAN	234	K	E	Disease	Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
Q8IWS0	PHF6_HUMAN	99	C	F	Disease	Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
Q8IWS0	PHF6_HUMAN	45	C	Y	Disease	Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
Q8IWS0	PHF6_HUMAN	305	C	F	Disease	Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
Q8IWT1	SCN4B_HUMAN	166	I	L	Disease	Atrial fibrillation, familial, 17 (ATFB17) [MIM:611819]
Q8IWT1	SCN4B_HUMAN	179	L	F	Disease	Long QT syndrome 10 (LQT10) [MIM:611819]
Q8IWT1	SCN4B_HUMAN	162	V	G	Disease	Atrial fibrillation, familial, 17 (ATFB17) [MIM:611819]
Q8IWT3	CUL9_HUMAN	2180	T	I	Polymorphism	-
Q8IWT3	CUL9_HUMAN	2058	H	P	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	484	D	H	Unclassified	A lung large cell carcinoma sample
Q8IWU2	LMTK2_HUMAN	1061	D	N	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	693	I	T	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	780	L	M	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	30	P	A	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	595	V	I	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	1341	A	G	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	916	S	R	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	862	A	T	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	1220	D	N	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	624	V	M	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	849	V	F	Polymorphism	-
Q8IWU2	LMTK2_HUMAN	1401	S	N	Polymorphism	-
Q8IWU4	ZNT8_HUMAN	325	R	W	Polymorphism	-
Q8IWU4	ZNT8_HUMAN	325	R	Q	Polymorphism	-
Q8IWU5	SULF2_HUMAN	674	R	H	Polymorphism	-
Q8IWU5	SULF2_HUMAN	531	Y	H	Unclassified	A breast cancer sample
Q8IWU5	SULF2_HUMAN	573	D	N	Unclassified	A breast cancer sample
Q8IWU5	SULF2_HUMAN	76	A	T	Polymorphism	-
Q8IWU9	TPH2_HUMAN	55	R	C	Polymorphism	-
Q8IWU9	TPH2_HUMAN	328	A	V	Polymorphism	-
Q8IWU9	TPH2_HUMAN	433	R	G	Unclassified	-
Q8IWU9	TPH2_HUMAN	41	S	Y	Polymorphism	-
Q8IWU9	TPH2_HUMAN	206	P	S	Polymorphism	-
Q8IWU9	TPH2_HUMAN	441	R	H	Polymorphism	-
Q8IWU9	TPH2_HUMAN	468	Q	R	Polymorphism	-
Q8IWU9	TPH2_HUMAN	36	L	V	Polymorphism	-
Q8IWU9	TPH2_HUMAN	479	D	E	Polymorphism	-
Q8IWU9	TPH2_HUMAN	36	L	P	Polymorphism	-
Q8IWU9	TPH2_HUMAN	303	R	W	Disease	Attention deficit-hyperactivity disorder 7 (ADHD7) [MIM:613003]
Q8IWV2	CNTN4_HUMAN	420	K	N	Unclassified	A colorectal cancer sample
Q8IWV2	CNTN4_HUMAN	176	T	P	Unclassified	A colorectal cancer sample
Q8IWV7	UBR1_HUMAN	317	L	P	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	427	L	R	Unclassified	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	1279	G	S	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	1548	T	A	Polymorphism	-
Q8IWV7	UBR1_HUMAN	217	L	R	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	1661	G	R	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	136	H	R	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	563	A	D	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	700	S	P	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	1102	Q	E	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	754	R	H	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	1427	S	F	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	127	C	F	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	1426	P	L	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	1431	S	P	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	286	I	R	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	1242	R	G	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	596	K	M	Polymorphism	-
Q8IWV7	UBR1_HUMAN	754	R	C	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	899	I	V	Polymorphism	-
Q8IWV7	UBR1_HUMAN	122	V	L	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV7	UBR1_HUMAN	166	H	R	Disease	Johanson-Blizzard syndrome (JBS) [MIM:243800]
Q8IWV8	UBR2_HUMAN	172	E	D	Polymorphism	-
Q8IWV8	UBR2_HUMAN	1095	A	T	Polymorphism	-
Q8IWV8	UBR2_HUMAN	1095	A	P	Polymorphism	-
Q8IWV8	UBR2_HUMAN	1095	A	S	Polymorphism	-
Q8IWW6	RHG12_HUMAN	442	F	S	Polymorphism	-
Q8IWW8	HOT_HUMAN	449	C	R	Polymorphism	-
Q8IWW8	HOT_HUMAN	242	D	V	Unclassified	A breast cancer sample
Q8IWX7	UN45B_HUMAN	377	K	R	Polymorphism	-
Q8IWX7	UN45B_HUMAN	60	V	I	Polymorphism	-
Q8IWX7	UN45B_HUMAN	199	A	V	Polymorphism	-
Q8IWX7	UN45B_HUMAN	496	D	H	Unclassified	A breast cancer sample
Q8IWX7	UN45B_HUMAN	852	I	N	Polymorphism	-
Q8IWX7	UN45B_HUMAN	805	R	W	Disease	Cataract 43 (CTRCT43) [MIM:616279]
Q8IWX8	CHERP_HUMAN	199	N	H	Polymorphism	-
Q8IWY4	SCUB1_HUMAN	398	G	R	Polymorphism	-
Q8IWY4	SCUB1_HUMAN	648	S	P	Polymorphism	-
Q8IWY8	ZSC29_HUMAN	199	G	S	Polymorphism	-
Q8IWY8	ZSC29_HUMAN	104	R	G	Polymorphism	-
Q8IWY9	CDAN1_HUMAN	714	R	W	Disease	Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120]
Q8IWY9	CDAN1_HUMAN	869	V	M	Disease	Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120]
Q8IWY9	CDAN1_HUMAN	599	N	S	Disease	Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120]
Q8IWY9	CDAN1_HUMAN	1042	R	W	Disease	Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120]
Q8IWY9	CDAN1_HUMAN	1043	D	V	Disease	Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120]
Q8IWY9	CDAN1_HUMAN	107	Q	L	Polymorphism	-
Q8IWY9	CDAN1_HUMAN	1130	P	L	Disease	Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120]
Q8IWY9	CDAN1_HUMAN	868	F	I	Disease	Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120]
Q8IWY9	CDAN1_HUMAN	698	E	K	Disease	Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120]
Q8IWY9	CDAN1_HUMAN	891	R	C	Polymorphism	-
Q8IWY9	CDAN1_HUMAN	672	P	L	Disease	Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120]
Q8IWY9	CDAN1_HUMAN	596	Q	R	Polymorphism	-
Q8IWZ3	ANKH1_HUMAN	175	L	M	Polymorphism	-
Q8IWZ3	ANKH1_HUMAN	228	G	C	Polymorphism	-
Q8IWZ3	ANKH1_HUMAN	1760	N	S	Polymorphism	-
Q8IWZ3	ANKH1_HUMAN	1586	G	S	Polymorphism	-
Q8IWZ5	TRI42_HUMAN	244	K	R	Polymorphism	-
Q8IWZ5	TRI42_HUMAN	579	A	E	Polymorphism	-
Q8IWZ5	TRI42_HUMAN	475	V	M	Polymorphism	-
Q8IWZ6	BBS7_HUMAN	211	T	I	Disease	Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]
Q8IWZ6	BBS7_HUMAN	671	Y	C	Polymorphism	-
Q8IWZ6	BBS7_HUMAN	63	G	R	Disease	Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]
Q8IWZ6	BBS7_HUMAN	323	H	R	Disease	Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]
Q8IWZ6	BBS7_HUMAN	66	I	F	Disease	Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]
Q8IWZ6	BBS7_HUMAN	293	Q	P	Polymorphism	-
Q8IWZ8	SUGP1_HUMAN	290	R	H	Polymorphism	-
Q8IWZ8	SUGP1_HUMAN	568	Q	H	Polymorphism	-
Q8IX01	SUGP2_HUMAN	649	Q	R	Polymorphism	-
Q8IX01	SUGP2_HUMAN	206	G	S	Polymorphism	-
Q8IX01	SUGP2_HUMAN	552	M	T	Polymorphism	-
Q8IX01	SUGP2_HUMAN	722	Q	R	Polymorphism	-
Q8IX01	SUGP2_HUMAN	881	R	Q	Polymorphism	-
Q8IX03	KIBRA_HUMAN	250	R	C	Polymorphism	-
Q8IX03	KIBRA_HUMAN	735	S	A	Polymorphism	-
Q8IX03	KIBRA_HUMAN	734	M	I	Polymorphism	-
Q8IX05	CD302_HUMAN	200	R	S	Polymorphism	-
Q8IX07	FOG1_HUMAN	70	G	A	Polymorphism	-
Q8IX12	CCAR1_HUMAN	607	E	K	Unclassified	A colorectal cancer sample
Q8IX12	CCAR1_HUMAN	588	T	I	Polymorphism	-
Q8IX12	CCAR1_HUMAN	681	E	G	Polymorphism	-
Q8IX12	CCAR1_HUMAN	747	M	V	Polymorphism	-
Q8IX15	HOMEZ_HUMAN	278	A	T	Polymorphism	-
Q8IX19	MCEM1_HUMAN	129	V	I	Polymorphism	-
Q8IX19	MCEM1_HUMAN	167	I	V	Polymorphism	-
Q8IX19	MCEM1_HUMAN	175	L	V	Polymorphism	-
Q8IX21	SLF2_HUMAN	541	S	Y	Polymorphism	-
Q8IX29	FBX16_HUMAN	254	M	I	Polymorphism	-
Q8IX29	FBX16_HUMAN	75	R	Q	Polymorphism	-
Q8IX29	FBX16_HUMAN	255	T	N	Polymorphism	-
Q8IX30	SCUB3_HUMAN	410	S	L	Polymorphism	-
Q8IX90	SKA3_HUMAN	254	T	A	Polymorphism	-
Q8IX90	SKA3_HUMAN	335	D	E	Polymorphism	-
Q8IX90	SKA3_HUMAN	58	V	I	Polymorphism	-
Q8IXA5	SACA3_HUMAN	128	A	T	Polymorphism	-
Q8IXA5	SACA3_HUMAN	100	H	R	Polymorphism	-
Q8IXA5	SACA3_HUMAN	80	C	Y	Polymorphism	-
Q8IXB1	DJC10_HUMAN	76	D	N	Polymorphism	-
Q8IXB1	DJC10_HUMAN	347	L	I	Polymorphism	-
Q8IXB1	DJC10_HUMAN	414	Y	C	Polymorphism	-
Q8IXB1	DJC10_HUMAN	646	H	Q	Polymorphism	-
Q8IXB3	TARG1_HUMAN	15	P	S	Polymorphism	-
Q8IXB3	TARG1_HUMAN	57	S	G	Polymorphism	-
Q8IXB3	TARG1_HUMAN	18	A	T	Polymorphism	-
Q8IXB3	TARG1_HUMAN	3	H	Y	Polymorphism	-
Q8IXB3	TARG1_HUMAN	34	E	D	Polymorphism	-
Q8IXB3	TARG1_HUMAN	20	F	S	Polymorphism	-
Q8IXE1	OR4N5_HUMAN	191	N	D	Polymorphism	-
Q8IXE1	OR4N5_HUMAN	290	R	H	Polymorphism	-
Q8IXE1	OR4N5_HUMAN	234	S	T	Polymorphism	-
Q8IXE1	OR4N5_HUMAN	260	C	R	Polymorphism	-
Q8IXH8	CAD26_HUMAN	301	R	G	Polymorphism	-
Q8IXH8	CAD26_HUMAN	144	I	T	Polymorphism	-
Q8IXH8	CAD26_HUMAN	448	V	A	Polymorphism	-
Q8IXH8	CAD26_HUMAN	615	V	L	Polymorphism	-
Q8IXH8	CAD26_HUMAN	479	P	L	Polymorphism	-
Q8IXI1	MIRO2_HUMAN	245	R	Q	Polymorphism	-
Q8IXI1	MIRO2_HUMAN	425	R	C	Polymorphism	-
Q8IXJ9	ASXL1_HUMAN	751	V	I	Polymorphism	-
Q8IXJ9	ASXL1_HUMAN	983	L	R	Polymorphism	-
Q8IXJ9	ASXL1_HUMAN	815	P	L	Polymorphism	-
Q8IXJ9	ASXL1_HUMAN	1325	L	F	Polymorphism	-
Q8IXK0	PHC2_HUMAN	475	V	M	Polymorphism	-
Q8IXK0	PHC2_HUMAN	254	P	S	Polymorphism	-
Q8IXK2	GLT12_HUMAN	272	G	R	Polymorphism	-
Q8IXK2	GLT12_HUMAN	297	R	W	Disease	Colorectal cancer 1 (CRCS1) [MIM:608812]
Q8IXK2	GLT12_HUMAN	261	D	N	Polymorphism	-
Q8IXK2	GLT12_HUMAN	341	E	D	Disease	Colorectal cancer 1 (CRCS1) [MIM:608812]
Q8IXK2	GLT12_HUMAN	491	T	M	Disease	Colorectal cancer 1 (CRCS1) [MIM:608812]
Q8IXK2	GLT12_HUMAN	382	R	H	Disease	Colorectal cancer 1 (CRCS1) [MIM:608812]
Q8IXK2	GLT12_HUMAN	46	G	R	Polymorphism	-
Q8IXK2	GLT12_HUMAN	373	R	H	Disease	Colorectal cancer 1 (CRCS1) [MIM:608812]
Q8IXK2	GLT12_HUMAN	396	Y	C	Disease	Colorectal cancer 1 (CRCS1) [MIM:608812]
Q8IXK2	GLT12_HUMAN	119	E	V	Polymorphism	-
Q8IXK2	GLT12_HUMAN	479	C	F	Disease	Colorectal cancer 1 (CRCS1) [MIM:608812]
Q8IXK2	GLT12_HUMAN	303	D	N	Disease	Colorectal cancer 1 (CRCS1) [MIM:608812]
Q8IXK2	GLT12_HUMAN	552	R	K	Polymorphism	-
Q8IXK2	GLT12_HUMAN	3	G	E	Polymorphism	-
Q8IXL6	FA20C_HUMAN	379	G	R	Disease	Raine syndrome (RNS) [MIM:259775]
Q8IXL6	FA20C_HUMAN	268	T	M	Disease	Raine syndrome (RNS) [MIM:259775]
Q8IXL6	FA20C_HUMAN	280	G	R	Disease	Raine syndrome (RNS) [MIM:259775]
Q8IXL6	FA20C_HUMAN	388	L	R	Disease	Raine syndrome (RNS) [MIM:259775]
Q8IXL6	FA20C_HUMAN	258	I	N	Disease	Raine syndrome (RNS) [MIM:259775]
Q8IXL6	FA20C_HUMAN	379	G	E	Disease	Raine syndrome (RNS) [MIM:259775]
Q8IXL6	FA20C_HUMAN	451	D	N	Disease	Raine syndrome (RNS) [MIM:259775]
Q8IXL6	FA20C_HUMAN	549	R	W	Disease	Raine syndrome (RNS) [MIM:259775]
Q8IXL6	FA20C_HUMAN	328	P	S	Disease	Raine syndrome (RNS) [MIM:259775]
Q8IXL7	MSRB3_HUMAN	89	C	G	Disease	Deafness, autosomal recessive, 74 (DFNB74) [MIM:613718]
Q8IXM7	OD3L1_HUMAN	41	P	L	Polymorphism	-
Q8IXQ5	KLHL7_HUMAN	153	A	T	Disease	Retinitis pigmentosa 42 (RP42) [MIM:612943]
Q8IXQ5	KLHL7_HUMAN	421	C	S	Disease	Crisponi/Cold-induced sweating syndrome 3 (CISS3) [MIM:617055]
Q8IXQ5	KLHL7_HUMAN	423	H	Y	Polymorphism	-
Q8IXQ5	KLHL7_HUMAN	153	A	V	Disease	Retinitis pigmentosa 42 (RP42) [MIM:612943]
Q8IXQ5	KLHL7_HUMAN	420	R	C	Disease	Crisponi/Cold-induced sweating syndrome 3 (CISS3) [MIM:617055]
Q8IXQ5	KLHL7_HUMAN	255	D	N	Unclassified	-
Q8IXQ5	KLHL7_HUMAN	372	R	Q	Disease	Crisponi/Cold-induced sweating syndrome 3 (CISS3) [MIM:617055]
Q8IXQ5	KLHL7_HUMAN	472	K	Q	Unclassified	-
Q8IXQ5	KLHL7_HUMAN	150	S	N	Disease	Retinitis pigmentosa 42 (RP42) [MIM:612943]
Q8IXQ6	PARP9_HUMAN	651	T	A	Polymorphism	-
Q8IXQ6	PARP9_HUMAN	21	S	L	Polymorphism	-
Q8IXQ6	PARP9_HUMAN	528	Y	C	Polymorphism	-
Q8IXQ6	PARP9_HUMAN	517	I	V	Polymorphism	-
Q8IXR5	F178B_HUMAN	793	R	C	Polymorphism	-
Q8IXS0	F217A_HUMAN	258	A	T	Polymorphism	-
Q8IXS0	F217A_HUMAN	431	V	I	Polymorphism	-
Q8IXS0	F217A_HUMAN	309	Q	P	Polymorphism	-
Q8IXS0	F217A_HUMAN	360	C	S	Polymorphism	-
Q8IXS0	F217A_HUMAN	442	M	V	Polymorphism	-
Q8IXS2	DRC2_HUMAN	408	Y	C	Polymorphism	-
Q8IXS2	DRC2_HUMAN	133	H	R	Polymorphism	-
Q8IXT1	DDIAS_HUMAN	217	I	T	Polymorphism	-
Q8IXT1	DDIAS_HUMAN	460	R	S	Polymorphism	-
Q8IXT1	DDIAS_HUMAN	757	D	N	Polymorphism	-
Q8IXT1	DDIAS_HUMAN	842	V	I	Polymorphism	-
Q8IXT1	DDIAS_HUMAN	795	P	R	Polymorphism	-
Q8IXT5	RB12B_HUMAN	250	S	F	Polymorphism	-
Q8IXT5	RB12B_HUMAN	864	N	H	Polymorphism	-
Q8IXT5	RB12B_HUMAN	605	R	C	Polymorphism	-
Q8IXW0	LMTD2_HUMAN	44	A	T	Polymorphism	-
Q8IXX5	T183A_HUMAN	80	A	T	Polymorphism	-
Q8IXX5	T183A_HUMAN	10	R	M	Polymorphism	-
Q8IXY8	PPIL6_HUMAN	110	H	R	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	168	R	W	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	578	R	H	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	503	T	K	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	727	P	R	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	452	S	G	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	165	E	K	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	399	S	G	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	415	P	L	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	636	R	W	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	6	I	M	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	102	Q	R	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	228	A	S	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	149	F	Y	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	231	P	A	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	351	P	L	Polymorphism	-
Q8IXZ2	ZC3H3_HUMAN	151	E	D	Polymorphism	-
Q8IY17	PLPL6_HUMAN	1066	F	S	Disease	Boucher-Neuhauser syndrome (BNHS) [MIM:215470]
Q8IY17	PLPL6_HUMAN	1110	V	M	Disease	Boucher-Neuhauser syndrome (BNHS) [MIM:215470]
Q8IY17	PLPL6_HUMAN	1175	S	C	Disease	Boucher-Neuhauser syndrome (BNHS) [MIM:215470]
Q8IY17	PLPL6_HUMAN	1147	R	C	Disease	Boucher-Neuhauser syndrome (BNHS) [MIM:215470]
Q8IY17	PLPL6_HUMAN	263	V	I	Disease	Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]
Q8IY17	PLPL6_HUMAN	1122	P	L	Disease	Boucher-Neuhauser syndrome (BNHS) [MIM:215470]
Q8IY17	PLPL6_HUMAN	1176	G	S	Disease	Oliver-McFarlane syndrome (OMCS) [MIM:275400]
Q8IY17	PLPL6_HUMAN	578	G	W	Disease	Boucher-Neuhauser syndrome (BNHS) [MIM:215470]
Q8IY17	PLPL6_HUMAN	726	G	R	Disease	Laurence-Moon syndrome (LNMS) [MIM:245800]
Q8IY17	PLPL6_HUMAN	1099	R	Q	Disease	Oliver-McFarlane syndrome (OMCS) [MIM:275400]
Q8IY17	PLPL6_HUMAN	412	A	P	Polymorphism	-
Q8IY17	PLPL6_HUMAN	1359	R	W	Disease	Boucher-Neuhauser syndrome (BNHS) [MIM:215470]
Q8IY17	PLPL6_HUMAN	1129	G	R	Disease	Oliver-McFarlane syndrome (OMCS) [MIM:275400]
Q8IY17	PLPL6_HUMAN	1060	M	V	Disease	Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]
Q8IY17	PLPL6_HUMAN	1045	S	L	Disease	Boucher-Neuhauser syndrome (BNHS) [MIM:215470]
Q8IY17	PLPL6_HUMAN	1100	V	G	Unclassified	-
Q8IY17	PLPL6_HUMAN	1058	T	I	Disease	Boucher-Neuhauser syndrome (BNHS) [MIM:215470]
Q8IY17	PLPL6_HUMAN	1033	K	R	Polymorphism	-
Q8IY17	PLPL6_HUMAN	938	R	H	Disease	Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]
Q8IY17	PLPL6_HUMAN	1362	R	G	Unclassified	-
Q8IY17	PLPL6_HUMAN	1215	V	A	Disease	Oliver-McFarlane syndrome (OMCS) [MIM:275400]
Q8IY17	PLPL6_HUMAN	840	G	E	Disease	Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]
Q8IY18	SMC5_HUMAN	308	C	R	Polymorphism	-
Q8IY18	SMC5_HUMAN	306	V	I	Polymorphism	-
Q8IY18	SMC5_HUMAN	682	H	R	Polymorphism	-
Q8IY21	DDX60_HUMAN	672	V	M	Polymorphism	-
Q8IY21	DDX60_HUMAN	998	I	V	Polymorphism	-
Q8IY26	PLPP6_HUMAN	7	S	G	Polymorphism	-
Q8IY26	PLPP6_HUMAN	8	M	T	Polymorphism	-
Q8IY26	PLPP6_HUMAN	140	S	W	Polymorphism	-
Q8IY33	MILK2_HUMAN	623	K	R	Polymorphism	-
Q8IY33	MILK2_HUMAN	480	A	P	Polymorphism	-
Q8IY33	MILK2_HUMAN	519	P	L	Polymorphism	-
Q8IY33	MILK2_HUMAN	711	L	V	Polymorphism	-
Q8IY34	S15A3_HUMAN	349	I	F	Polymorphism	-
Q8IY37	DHX37_HUMAN	869	S	G	Polymorphism	-
Q8IY37	DHX37_HUMAN	717	V	I	Polymorphism	-
Q8IY37	DHX37_HUMAN	458	R	Q	Polymorphism	-
Q8IY37	DHX37_HUMAN	1081	R	Q	Polymorphism	-
Q8IY37	DHX37_HUMAN	96	M	I	Polymorphism	-
Q8IY37	DHX37_HUMAN	508	K	N	Polymorphism	-
Q8IY42	CD019_HUMAN	274	E	G	Polymorphism	-
Q8IY42	CD019_HUMAN	39	D	E	Polymorphism	-
Q8IY42	CD019_HUMAN	151	A	T	Polymorphism	-
Q8IY47	KBTB2_HUMAN	534	L	I	Polymorphism	-
Q8IY47	KBTB2_HUMAN	594	S	Y	Polymorphism	-
Q8IY47	KBTB2_HUMAN	189	E	G	Polymorphism	-
Q8IY47	KBTB2_HUMAN	193	T	P	Polymorphism	-
Q8IY47	KBTB2_HUMAN	301	P	R	Polymorphism	-
Q8IY47	KBTB2_HUMAN	254	P	R	Polymorphism	-
Q8IY47	KBTB2_HUMAN	166	Q	K	Polymorphism	-
Q8IY50	S35F3_HUMAN	231	S	C	Polymorphism	-
Q8IY51	TIGD4_HUMAN	439	I	V	Polymorphism	-
Q8IY51	TIGD4_HUMAN	489	Q	R	Polymorphism	-
Q8IY51	TIGD4_HUMAN	432	A	T	Polymorphism	-
Q8IY63	AMOL1_HUMAN	847	P	L	Polymorphism	-
Q8IY81	SPB1_HUMAN	424	S	C	Polymorphism	-
Q8IY81	SPB1_HUMAN	91	Q	E	Polymorphism	-
Q8IY82	DRC7_HUMAN	120	L	M	Polymorphism	-
Q8IY82	DRC7_HUMAN	51	D	N	Polymorphism	-
Q8IY82	DRC7_HUMAN	581	N	K	Polymorphism	-
Q8IY82	DRC7_HUMAN	433	P	L	Polymorphism	-
Q8IY82	DRC7_HUMAN	766	C	R	Polymorphism	-
Q8IY82	DRC7_HUMAN	521	P	H	Polymorphism	-
Q8IY82	DRC7_HUMAN	186	C	S	Polymorphism	-
Q8IY82	DRC7_HUMAN	241	V	E	Polymorphism	-
Q8IY84	NIM1_HUMAN	21	R	W	Polymorphism	-
Q8IY84	NIM1_HUMAN	411	P	T	Unclassified	A lung large cell carcinoma sample
Q8IY84	NIM1_HUMAN	333	P	S	Unclassified	A lung neuroendocrine carcinoma sample
Q8IY84	NIM1_HUMAN	64	E	Q	Polymorphism	-
Q8IY84	NIM1_HUMAN	320	M	I	Polymorphism	-
Q8IY84	NIM1_HUMAN	260	L	I	Polymorphism	-
Q8IY85	EFC13_HUMAN	312	V	I	Polymorphism	-
Q8IY85	EFC13_HUMAN	279	I	V	Polymorphism	-
Q8IY85	EFC13_HUMAN	286	Q	H	Unclassified	A breast cancer sample
Q8IY85	EFC13_HUMAN	617	M	V	Polymorphism	-
Q8IY92	SLX4_HUMAN	506	S	N	Polymorphism	-
Q8IY92	SLX4_HUMAN	1476	T	S	Polymorphism	-
Q8IY92	SLX4_HUMAN	1694	A	V	Polymorphism	-
Q8IY92	SLX4_HUMAN	1550	R	W	Polymorphism	-
Q8IY92	SLX4_HUMAN	284	H	R	Polymorphism	-
Q8IY92	SLX4_HUMAN	894	V	G	Polymorphism	-
Q8IY92	SLX4_HUMAN	1677	P	S	Polymorphism	-
Q8IY92	SLX4_HUMAN	385	P	T	Polymorphism	-
Q8IY92	SLX4_HUMAN	1342	S	G	Polymorphism	-
Q8IY92	SLX4_HUMAN	458	K	E	Polymorphism	-
Q8IY92	SLX4_HUMAN	1834	N	S	Polymorphism	-
Q8IY92	SLX4_HUMAN	1814	R	C	Polymorphism	-
Q8IY92	SLX4_HUMAN	568	V	M	Polymorphism	-
Q8IY92	SLX4_HUMAN	975	P	L	Polymorphism	-
Q8IY92	SLX4_HUMAN	1007	Q	K	Polymorphism	-
Q8IY92	SLX4_HUMAN	929	P	L	Polymorphism	-
Q8IY92	SLX4_HUMAN	671	L	S	Polymorphism	-
Q8IY92	SLX4_HUMAN	1286	A	V	Polymorphism	-
Q8IY92	SLX4_HUMAN	1421	I	F	Polymorphism	-
Q8IY92	SLX4_HUMAN	1221	A	V	Polymorphism	-
Q8IY92	SLX4_HUMAN	1060	R	W	Polymorphism	-
Q8IY92	SLX4_HUMAN	378	P	T	Polymorphism	-
Q8IY92	SLX4_HUMAN	870	A	V	Polymorphism	-
Q8IY92	SLX4_HUMAN	237	R	Q	Polymorphism	-
Q8IY92	SLX4_HUMAN	457	N	K	Polymorphism	-
Q8IY92	SLX4_HUMAN	952	A	M	Polymorphism	-
Q8IY92	SLX4_HUMAN	386	M	V	Polymorphism	-
Q8IY92	SLX4_HUMAN	38	L	F	Polymorphism	-
Q8IY92	SLX4_HUMAN	579	L	P	Polymorphism	-
Q8IY92	SLX4_HUMAN	787	E	K	Polymorphism	-
Q8IY92	SLX4_HUMAN	1123	S	Y	Polymorphism	-
Q8IY92	SLX4_HUMAN	1367	A	T	Polymorphism	-
Q8IY92	SLX4_HUMAN	197	V	A	Polymorphism	-
Q8IY92	SLX4_HUMAN	942	E	Q	Polymorphism	-
Q8IY92	SLX4_HUMAN	424	A	V	Polymorphism	-
Q8IY92	SLX4_HUMAN	1287	V	G	Polymorphism	-
Q8IY92	SLX4_HUMAN	141	G	W	Polymorphism	-
Q8IY92	SLX4_HUMAN	1122	P	L	Polymorphism	-
Q8IY92	SLX4_HUMAN	1271	S	F	Polymorphism	-
Q8IY92	SLX4_HUMAN	204	R	C	Polymorphism	-
Q8IY92	SLX4_HUMAN	505	A	T	Polymorphism	-
Q8IYA6	CKP2L_HUMAN	104	T	I	Polymorphism	-
Q8IYA6	CKP2L_HUMAN	263	R	S	Polymorphism	-
Q8IYA6	CKP2L_HUMAN	379	P	A	Polymorphism	-
Q8IYA6	CKP2L_HUMAN	375	I	V	Polymorphism	-
Q8IYA6	CKP2L_HUMAN	614	L	S	Polymorphism	-
Q8IYA6	CKP2L_HUMAN	706	E	D	Polymorphism	-
Q8IYA6	CKP2L_HUMAN	519	S	G	Polymorphism	-
Q8IYA6	CKP2L_HUMAN	26	K	R	Polymorphism	-
Q8IYA6	CKP2L_HUMAN	62	N	S	Polymorphism	-
Q8IYA6	CKP2L_HUMAN	19	L	F	Polymorphism	-
Q8IYA7	MKX_HUMAN	40	R	H	Polymorphism	-
Q8IYA8	IHO1_HUMAN	440	D	E	Polymorphism	-
Q8IYB0	YK038_HUMAN	129	D	Y	Unclassified	A colorectal cancer sample
Q8IYB3	SRRM1_HUMAN	170	R	H	Polymorphism	-
Q8IYB4	PEX5R_HUMAN	226	A	T	Unclassified	A colorectal cancer sample
Q8IYB5	SMAP1_HUMAN	212	A	V	Polymorphism	-
Q8IYB7	DI3L2_HUMAN	12	P	S	Polymorphism	-
Q8IYB7	DI3L2_HUMAN	576	R	H	Disease	-
Q8IYB7	DI3L2_HUMAN	483	R	G	Disease	-
Q8IYB7	DI3L2_HUMAN	489	C	Y	Disease	Perlman syndrome (PRLMNS) [MIM:267000]
Q8IYB7	DI3L2_HUMAN	443	M	K	Unclassified	Perlman syndrome (PRLMNS) [MIM:267000]
Q8IYB8	SUV3_HUMAN	30	P	T	Polymorphism	-
Q8IYB8	SUV3_HUMAN	2	S	F	Polymorphism	-
Q8IYB9	ZN595_HUMAN	628	A	G	Polymorphism	-
Q8IYD1	ERF3B_HUMAN	23	P	T	Polymorphism	-
Q8IYD8	FANCM_HUMAN	175	S	F	Polymorphism	-
Q8IYD8	FANCM_HUMAN	208	I	M	Polymorphism	-
Q8IYD8	FANCM_HUMAN	878	V	L	Polymorphism	-
Q8IYD8	FANCM_HUMAN	1812	P	A	Polymorphism	-
Q8IYD9	LAS2_HUMAN	196	C	F	Polymorphism	-
Q8IYD9	LAS2_HUMAN	147	R	P	Polymorphism	-
Q8IYE0	CC146_HUMAN	263	E	Q	Polymorphism	-
Q8IYE0	CC146_HUMAN	466	I	T	Polymorphism	-
Q8IYE0	CC146_HUMAN	345	N	S	Polymorphism	-
Q8IYE1	CCD13_HUMAN	25	R	W	Polymorphism	-
Q8IYE1	CCD13_HUMAN	375	E	V	Polymorphism	-
Q8IYE1	CCD13_HUMAN	547	S	T	Polymorphism	-
Q8IYF1	ELOA2_HUMAN	403	A	S	Polymorphism	-
Q8IYF1	ELOA2_HUMAN	446	A	T	Polymorphism	-
Q8IYF1	ELOA2_HUMAN	179	R	P	Polymorphism	-
Q8IYF1	ELOA2_HUMAN	498	R	Q	Unclassified	A colorectal cancer sample
Q8IYF1	ELOA2_HUMAN	254	C	F	Polymorphism	-
Q8IYF3	TEX11_HUMAN	130	K	R	Polymorphism	-
Q8IYF3	TEX11_HUMAN	171	M	V	Disease	Spermatogenic failure, X-linked, 2 (SPGFX2) [MIM:309120]
Q8IYF3	TEX11_HUMAN	451	E	K	Polymorphism	-
Q8IYF3	TEX11_HUMAN	698	A	T	Disease	Spermatogenic failure, X-linked, 2 (SPGFX2) [MIM:309120]
Q8IYG6	LRC56_HUMAN	140	L	P	Disease	Ciliary dyskinesia, primary, 39 (CILD39) [MIM:618254]
Q8IYG6	LRC56_HUMAN	467	R	Q	Polymorphism	-
Q8IYG6	LRC56_HUMAN	12	R	Q	Polymorphism	-
Q8IYG6	LRC56_HUMAN	507	R	G	Polymorphism	-
Q8IYG6	LRC56_HUMAN	523	D	H	Polymorphism	-
Q8IYG6	LRC56_HUMAN	300	R	H	Polymorphism	-
Q8IYH5	ZZZ3_HUMAN	456	P	S	Unclassified	A colorectal cancer sample
Q8IYI0	SHLD1_HUMAN	23	A	V	Polymorphism	-
Q8IYI8	ZN440_HUMAN	88	P	R	Polymorphism	-
Q8IYI8	ZN440_HUMAN	43	L	I	Polymorphism	-
Q8IYI8	ZN440_HUMAN	124	N	S	Polymorphism	-
Q8IYI8	ZN440_HUMAN	569	S	N	Polymorphism	-
Q8IYK2	CC105_HUMAN	434	D	E	Polymorphism	-
Q8IYK2	CC105_HUMAN	245	V	M	Polymorphism	-
Q8IYK2	CC105_HUMAN	444	S	T	Polymorphism	-
Q8IYK2	CC105_HUMAN	248	M	T	Polymorphism	-
Q8IYK2	CC105_HUMAN	499	P	T	Polymorphism	-
Q8IYK4	GT252_HUMAN	475	V	I	Unclassified	A breast cancer sample
Q8IYK8	REM2_HUMAN	96	G	A	Polymorphism	-
Q8IYL2	TRM44_HUMAN	641	G	A	Polymorphism	-
Q8IYL2	TRM44_HUMAN	300	M	L	Polymorphism	-
Q8IYL2	TRM44_HUMAN	352	R	G	Polymorphism	-
Q8IYL2	TRM44_HUMAN	455	I	V	Polymorphism	-
Q8IYL3	CA174_HUMAN	165	P	A	Polymorphism	-
Q8IYL3	CA174_HUMAN	101	A	S	Polymorphism	-
Q8IYL3	CA174_HUMAN	53	T	R	Polymorphism	-
Q8IYL9	PSYR_HUMAN	231	I	L	Polymorphism	-
Q8IYM0	F186B_HUMAN	397	V	M	Polymorphism	-
Q8IYM0	F186B_HUMAN	553	E	Q	Polymorphism	-
Q8IYM1	SEP12_HUMAN	197	D	N	Disease	Spermatogenic failure 10 (SPGF10) [MIM:614822]
Q8IYM1	SEP12_HUMAN	213	Q	R	Polymorphism	-
Q8IYM1	SEP12_HUMAN	89	T	M	Disease	Spermatogenic failure 10 (SPGF10) [MIM:614822]
Q8IYM2	SLN12_HUMAN	168	C	R	Polymorphism	-
Q8IYM2	SLN12_HUMAN	43	S	R	Polymorphism	-
Q8IYM2	SLN12_HUMAN	448	S	P	Polymorphism	-
Q8IYM9	TRI22_HUMAN	232	T	A	Polymorphism	-
Q8IYM9	TRI22_HUMAN	321	R	K	Polymorphism	-
Q8IYM9	TRI22_HUMAN	155	D	N	Polymorphism	-
Q8IYM9	TRI22_HUMAN	242	R	T	Polymorphism	-
Q8IYN0	ZN100_HUMAN	8	M	V	Polymorphism	-
Q8IYN0	ZN100_HUMAN	389	T	I	Polymorphism	-
Q8IYP9	ZDH23_HUMAN	247	K	R	Polymorphism	-
Q8IYP9	ZDH23_HUMAN	132	H	N	Polymorphism	-
Q8IYP9	ZDH23_HUMAN	221	T	A	Polymorphism	-
Q8IYP9	ZDH23_HUMAN	274	H	R	Polymorphism	-
Q8IYQ7	THNS1_HUMAN	154	L	P	Polymorphism	-
Q8IYQ7	THNS1_HUMAN	248	A	E	Polymorphism	-
Q8IYQ7	THNS1_HUMAN	239	P	R	Polymorphism	-
Q8IYQ7	THNS1_HUMAN	399	Q	R	Polymorphism	-
Q8IYR0	CF206_HUMAN	170	G	A	Polymorphism	-
Q8IYR0	CF206_HUMAN	154	R	K	Polymorphism	-
Q8IYR2	SMYD4_HUMAN	374	I	M	Polymorphism	-
Q8IYR2	SMYD4_HUMAN	236	G	S	Polymorphism	-
Q8IYR2	SMYD4_HUMAN	131	R	I	Polymorphism	-
Q8IYR2	SMYD4_HUMAN	382	P	R	Polymorphism	-
Q8IYR2	SMYD4_HUMAN	727	Y	C	Polymorphism	-
Q8IYR2	SMYD4_HUMAN	101	N	D	Polymorphism	-
Q8IYR2	SMYD4_HUMAN	601	A	P	Unclassified	-
Q8IYR2	SMYD4_HUMAN	562	R	W	Polymorphism	-
Q8IYR6	TEFF1_HUMAN	189	V	I	Polymorphism	-
Q8IYS0	ASTRC_HUMAN	644	L	P	Polymorphism	-
Q8IYS1	P20D2_HUMAN	333	K	E	Polymorphism	-
Q8IYS4	CP071_HUMAN	143	P	S	Polymorphism	-
Q8IYS4	CP071_HUMAN	88	E	D	Polymorphism	-
Q8IYS4	CP071_HUMAN	302	R	C	Polymorphism	-
Q8IYS4	CP071_HUMAN	354	Q	R	Polymorphism	-
Q8IYS4	CP071_HUMAN	465	P	L	Polymorphism	-
Q8IYS4	CP071_HUMAN	232	E	K	Polymorphism	-
Q8IYS4	CP071_HUMAN	241	A	V	Polymorphism	-
Q8IYS4	CP071_HUMAN	190	S	L	Polymorphism	-
Q8IYS5	OSCAR_HUMAN	97	I	S	Polymorphism	-
Q8IYS5	OSCAR_HUMAN	229	S	Y	Polymorphism	-
Q8IYT1	FA71A_HUMAN	253	N	S	Polymorphism	-
Q8IYT1	FA71A_HUMAN	551	N	D	Polymorphism	-
Q8IYT1	FA71A_HUMAN	22	N	D	Polymorphism	-
Q8IYT1	FA71A_HUMAN	577	T	M	Polymorphism	-
Q8IYT1	FA71A_HUMAN	319	G	D	Polymorphism	-
Q8IYT2	CMTR2_HUMAN	163	F	Y	Polymorphism	-
Q8IYT2	CMTR2_HUMAN	608	T	K	Polymorphism	-
Q8IYT2	CMTR2_HUMAN	416	N	S	Polymorphism	-
Q8IYT2	CMTR2_HUMAN	753	F	L	Polymorphism	-
Q8IYT2	CMTR2_HUMAN	60	L	F	Polymorphism	-
Q8IYT3	CC170_HUMAN	683	V	I	Polymorphism	-
Q8IYT3	CC170_HUMAN	324	F	S	Polymorphism	-
Q8IYT3	CC170_HUMAN	331	A	T	Polymorphism	-
Q8IYT3	CC170_HUMAN	479	N	K	Polymorphism	-
Q8IYT3	CC170_HUMAN	553	R	Q	Polymorphism	-
Q8IYT3	CC170_HUMAN	345	E	K	Polymorphism	-
Q8IYT3	CC170_HUMAN	604	V	I	Polymorphism	-
Q8IYT3	CC170_HUMAN	269	A	V	Polymorphism	-
Q8IYT4	KATL2_HUMAN	160	S	N	Polymorphism	-
Q8IYT8	ULK2_HUMAN	842	D	E	Polymorphism	-
Q8IYT8	ULK2_HUMAN	533	T	I	Polymorphism	-
Q8IYT8	ULK2_HUMAN	370	V	M	Polymorphism	-
Q8IYT8	ULK2_HUMAN	662	A	V	Unclassified	A metastatic melanoma sample
Q8IYT8	ULK2_HUMAN	242	P	S	Polymorphism	-
Q8IYT8	ULK2_HUMAN	627	G	E	Unclassified	A metastatic melanoma sample
Q8IYT8	ULK2_HUMAN	752	G	R	Polymorphism	-
Q8IYU2	HACE1_HUMAN	17	R	H	Polymorphism	-
Q8IYU2	HACE1_HUMAN	374	I	T	Polymorphism	-
Q8IYU4	UBQLN_HUMAN	259	G	D	Polymorphism	-
Q8IYU4	UBQLN_HUMAN	143	Q	K	Polymorphism	-
Q8IYU4	UBQLN_HUMAN	92	D	V	Polymorphism	-
Q8IYU4	UBQLN_HUMAN	274	Y	H	Polymorphism	-
Q8IYU4	UBQLN_HUMAN	171	C	R	Polymorphism	-
Q8IYU4	UBQLN_HUMAN	275	A	V	Polymorphism	-
Q8IYU4	UBQLN_HUMAN	455	Q	E	Polymorphism	-
Q8IYU4	UBQLN_HUMAN	379	W	G	Polymorphism	-
Q8IYU8	MICU2_HUMAN	260	Q	L	Polymorphism	-
Q8IYV9	IZUM1_HUMAN	333	A	V	Polymorphism	-
Q8IYW2	CFA46_HUMAN	2540	S	G	Polymorphism	-
Q8IYW2	CFA46_HUMAN	264	S	N	Polymorphism	-
Q8IYW2	CFA46_HUMAN	2125	C	R	Polymorphism	-
Q8IYW2	CFA46_HUMAN	2249	E	K	Polymorphism	-
Q8IYW2	CFA46_HUMAN	2499	L	F	Polymorphism	-
Q8IYW2	CFA46_HUMAN	2658	K	Q	Polymorphism	-
Q8IYW2	CFA46_HUMAN	2331	A	T	Polymorphism	-
Q8IYW4	ENTD1_HUMAN	109	I	T	Polymorphism	-
Q8IYW5	RN168_HUMAN	413	E	K	Polymorphism	-
Q8IYW5	RN168_HUMAN	387	K	R	Polymorphism	-
Q8IYW5	RN168_HUMAN	401	P	Q	Polymorphism	-
Q8IYX0	ZN679_HUMAN	223	C	S	Polymorphism	-
Q8IYX0	ZN679_HUMAN	212	Y	H	Polymorphism	-
Q8IYX0	ZN679_HUMAN	120	H	R	Polymorphism	-
Q8IYX0	ZN679_HUMAN	69	E	G	Polymorphism	-
Q8IYX1	TBC21_HUMAN	113	R	Q	Polymorphism	-
Q8IYX3	CC116_HUMAN	436	A	T	Polymorphism	-
Q8IYX3	CC116_HUMAN	96	R	C	Polymorphism	-
Q8IYX3	CC116_HUMAN	121	G	R	Polymorphism	-
Q8IYX3	CC116_HUMAN	293	P	L	Polymorphism	-
Q8IYX3	CC116_HUMAN	199	R	W	Polymorphism	-
Q8IYX3	CC116_HUMAN	122	R	W	Polymorphism	-
Q8IYX7	SAXO1_HUMAN	385	N	S	Polymorphism	-
Q8IYX7	SAXO1_HUMAN	63	P	S	Polymorphism	-
Q8IYX7	SAXO1_HUMAN	27	K	E	Polymorphism	-
Q8IYX8	CE57L_HUMAN	194	D	E	Polymorphism	-
Q8IYY4	DZI1L_HUMAN	321	R	W	Polymorphism	-
Q8IYY4	DZI1L_HUMAN	545	T	A	Polymorphism	-
Q8IYY4	DZI1L_HUMAN	90	A	V	Disease	Polycystic kidney disease 5 (PKD5) [MIM:617610]
Q8IYY4	DZI1L_HUMAN	645	K	E	Polymorphism	-
Q8IYY4	DZI1L_HUMAN	593	R	H	Polymorphism	-
Q8IYY4	DZI1L_HUMAN	91	Q	H	Disease	Polycystic kidney disease 5 (PKD5) [MIM:617610]
Q8IYY4	DZI1L_HUMAN	551	A	V	Polymorphism	-
Q8IZ02	LRC34_HUMAN	405	M	I	Polymorphism	-
Q8IZ02	LRC34_HUMAN	49	P	L	Polymorphism	-
Q8IZ02	LRC34_HUMAN	286	L	I	Polymorphism	-
Q8IZ07	AN13A_HUMAN	505	L	P	Polymorphism	-
Q8IZ08	GP135_HUMAN	5	Q	P	Polymorphism	-
Q8IZ08	GP135_HUMAN	481	V	A	Polymorphism	-
Q8IZ13	ZBED8_HUMAN	523	A	S	Polymorphism	-
Q8IZ20	ZN683_HUMAN	48	D	G	Polymorphism	-
Q8IZ20	ZN683_HUMAN	22	G	V	Polymorphism	-
Q8IZ20	ZN683_HUMAN	204	H	N	Polymorphism	-
Q8IZ20	ZN683_HUMAN	288	R	L	Polymorphism	-
Q8IZ20	ZN683_HUMAN	53	H	R	Polymorphism	-
Q8IZ40	RCOR2_HUMAN	514	T	A	Polymorphism	-
Q8IZ41	RASEF_HUMAN	262	R	C	Polymorphism	-
Q8IZ52	CHSS2_HUMAN	371	Q	R	Polymorphism	-
Q8IZ57	NRSN1_HUMAN	104	H	Y	Polymorphism	-
Q8IZ57	NRSN1_HUMAN	41	I	V	Polymorphism	-
Q8IZ63	PRR22_HUMAN	118	P	L	Polymorphism	-
Q8IZ69	TRM2A_HUMAN	604	P	S	Unclassified	A breast cancer sample
Q8IZ69	TRM2A_HUMAN	602	S	R	Polymorphism	-
Q8IZ83	A16A1_HUMAN	227	L	V	Polymorphism	-
Q8IZ83	A16A1_HUMAN	110	E	K	Polymorphism	-
Q8IZ96	CKLF1_HUMAN	10	S	T	Polymorphism	-
Q8IZA0	K319L_HUMAN	243	G	D	Polymorphism	-
Q8IZA0	K319L_HUMAN	837	Q	H	Polymorphism	-
Q8IZA3	H1FOO_HUMAN	296	N	S	Polymorphism	-
Q8IZC4	RTKN2_HUMAN	462	H	R	Polymorphism	-
Q8IZC4	RTKN2_HUMAN	101	K	T	Polymorphism	-
Q8IZC6	CORA1_HUMAN	611	I	F	Polymorphism	-
Q8IZC6	CORA1_HUMAN	697	G	R	Disease	Steel syndrome (STLS) [MIM:615155]
Q8IZC6	CORA1_HUMAN	349	R	C	Polymorphism	-
Q8IZC6	CORA1_HUMAN	265	A	T	Polymorphism	-
Q8IZC6	CORA1_HUMAN	89	V	I	Polymorphism	-
Q8IZC6	CORA1_HUMAN	120	Q	R	Polymorphism	-
Q8IZC6	CORA1_HUMAN	422	A	T	Polymorphism	-
Q8IZC6	CORA1_HUMAN	720	P	R	Polymorphism	-
Q8IZC6	CORA1_HUMAN	1354	R	Q	Polymorphism	-
Q8IZC6	CORA1_HUMAN	1808	M	V	Polymorphism	-
Q8IZC6	CORA1_HUMAN	537	I	T	Polymorphism	-
Q8IZC6	CORA1_HUMAN	1348	R	Q	Polymorphism	-
Q8IZC6	CORA1_HUMAN	1116	P	Q	Polymorphism	-
Q8IZC7	ZN101_HUMAN	121	M	L	Polymorphism	-
Q8IZD2	KMT2E_HUMAN	1424	S	P	Polymorphism	-
Q8IZD4	DCP1B_HUMAN	216	N	S	Polymorphism	-
Q8IZD4	DCP1B_HUMAN	301	S	T	Polymorphism	-
Q8IZD4	DCP1B_HUMAN	344	R	H	Polymorphism	-
Q8IZD4	DCP1B_HUMAN	195	N	D	Polymorphism	-
Q8IZD6	S22AF_HUMAN	349	P	Q	Polymorphism	-
Q8IZD9	DOCK3_HUMAN	1674	M	L	Unclassified	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia (NEDIDHA) [MIM:618292]
Q8IZD9	DOCK3_HUMAN	1296	K	R	Unclassified	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia (NEDIDHA) [MIM:618292]
Q8IZD9	DOCK3_HUMAN	392	R	Q	Unclassified	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia (NEDIDHA) [MIM:618292]
Q8IZE3	PACE1_HUMAN	597	G	A	Polymorphism	-
Q8IZE3	PACE1_HUMAN	621	Q	R	Polymorphism	-
Q8IZF0	NALCN_HUMAN	1181	R	Q	Unclassified	-
Q8IZF0	NALCN_HUMAN	578	Y	S	Disease	Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266]
Q8IZF0	NALCN_HUMAN	317	F	C	Unclassified	-
Q8IZF0	NALCN_HUMAN	312	L	I	Disease	Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266]
Q8IZF0	NALCN_HUMAN	312	L	V	Unclassified	-
Q8IZF0	NALCN_HUMAN	595	V	F	Unclassified	-
Q8IZF0	NALCN_HUMAN	313	V	G	Disease	Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266]
Q8IZF0	NALCN_HUMAN	1020	V	F	Unclassified	-
Q8IZF0	NALCN_HUMAN	1165	T	P	Disease	Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266]
Q8IZF0	NALCN_HUMAN	509	L	S	Disease	Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266]
Q8IZF0	NALCN_HUMAN	1446	I	M	Disease	Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266]
Q8IZF0	NALCN_HUMAN	1287	W	L	Disease	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1) [MIM:615419]
Q8IZF0	NALCN_HUMAN	590	L	F	Disease	Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266]
Q8IZF0	NALCN_HUMAN	177	Q	P	Disease	Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266]
Q8IZF2	AGRF5_HUMAN	801	V	I	Polymorphism	-
Q8IZF2	AGRF5_HUMAN	856	M	T	Polymorphism	-
Q8IZF2	AGRF5_HUMAN	604	T	M	Polymorphism	-
Q8IZF3	AGRF4_HUMAN	674	S	L	Unclassified	A breast cancer sample
Q8IZF3	AGRF4_HUMAN	541	K	N	Polymorphism	-
Q8IZF3	AGRF4_HUMAN	507	R	C	Polymorphism	-
Q8IZF5	AGRF3_HUMAN	404	A	T	Polymorphism	-
Q8IZF6	AGRG4_HUMAN	1540	S	P	Polymorphism	-
Q8IZF6	AGRG4_HUMAN	1791	F	L	Polymorphism	-
Q8IZF6	AGRG4_HUMAN	368	P	H	Polymorphism	-
Q8IZF6	AGRG4_HUMAN	1213	T	N	Polymorphism	-
Q8IZF6	AGRG4_HUMAN	276	I	M	Polymorphism	-
Q8IZF7	AGRF2_HUMAN	148	Q	R	Polymorphism	-
Q8IZF7	AGRF2_HUMAN	467	I	V	Polymorphism	-
Q8IZH2	XRN1_HUMAN	1259	V	A	Polymorphism	-
Q8IZH2	XRN1_HUMAN	674	S	G	Polymorphism	-
Q8IZI9	IFNL3_HUMAN	70	K	R	Polymorphism	-
Q8IZI9	IFNL3_HUMAN	28	R	H	Polymorphism	-
Q8IZJ0	IFNL2_HUMAN	10	T	M	Polymorphism	-
Q8IZJ0	IFNL2_HUMAN	112	T	A	Polymorphism	-
Q8IZJ1	UNC5B_HUMAN	516	A	T	Polymorphism	-
Q8IZJ1	UNC5B_HUMAN	242	I	V	Polymorphism	-
Q8IZJ3	CPMD8_HUMAN	1268	T	I	Polymorphism	-
Q8IZJ3	CPMD8_HUMAN	251	R	W	Polymorphism	-
Q8IZJ3	CPMD8_HUMAN	265	M	T	Polymorphism	-
Q8IZJ3	CPMD8_HUMAN	1404	S	P	Disease	Anterior segment dysgenesis 8 (ASGD8) [MIM:617319]
Q8IZJ3	CPMD8_HUMAN	1843	Q	R	Polymorphism	-
Q8IZJ3	CPMD8_HUMAN	546	H	R	Polymorphism	-
Q8IZJ3	CPMD8_HUMAN	1156	V	I	Polymorphism	-
Q8IZJ3	CPMD8_HUMAN	736	P	H	Polymorphism	-
Q8IZJ3	CPMD8_HUMAN	294	R	Q	Polymorphism	-
Q8IZJ3	CPMD8_HUMAN	539	D	E	Polymorphism	-
Q8IZJ4	RGDSR_HUMAN	216	T	M	Polymorphism	-
Q8IZJ4	RGDSR_HUMAN	358	D	V	Polymorphism	-
Q8IZJ4	RGDSR_HUMAN	342	M	R	Polymorphism	-
Q8IZJ4	RGDSR_HUMAN	378	V	A	Polymorphism	-
Q8IZJ4	RGDSR_HUMAN	297	E	K	Polymorphism	-
Q8IZJ4	RGDSR_HUMAN	24	Q	R	Polymorphism	-
Q8IZJ4	RGDSR_HUMAN	37	R	C	Polymorphism	-
Q8IZJ4	RGDSR_HUMAN	241	H	Y	Polymorphism	-
Q8IZK6	MCLN2_HUMAN	365	M	V	Polymorphism	-
Q8IZK6	MCLN2_HUMAN	370	K	Q	Polymorphism	-
Q8IZL2	MAML2_HUMAN	896	P	T	Polymorphism	-
Q8IZL8	PELP1_HUMAN	1126	T	S	Polymorphism	-
Q8IZL9	CDK20_HUMAN	106	S	N	Polymorphism	-
Q8IZL9	CDK20_HUMAN	281	K	R	Polymorphism	-
Q8IZL9	CDK20_HUMAN	137	A	T	Polymorphism	-
Q8IZL9	CDK20_HUMAN	86	S	L	Polymorphism	-
Q8IZM9	S38A6_HUMAN	419	S	T	Polymorphism	-
Q8IZM9	S38A6_HUMAN	70	L	M	Polymorphism	-
Q8IZN3	ZDH14_HUMAN	334	T	M	Polymorphism	-
Q8IZP0	ABI1_HUMAN	331	G	A	Polymorphism	-
Q8IZP1	TBC3A_HUMAN	526	Q	P	Polymorphism	-
Q8IZP2	ST134_HUMAN	71	S	L	Polymorphism	-
Q8IZP6	R113B_HUMAN	92	V	M	Polymorphism	-
Q8IZP7	H6ST3_HUMAN	265	K	R	Polymorphism	-
Q8IZP9	AGRG2_HUMAN	290	H	Q	Polymorphism	-
Q8IZP9	AGRG2_HUMAN	771	N	S	Polymorphism	-
Q8IZP9	AGRG2_HUMAN	64	N	S	Unclassified	-
Q8IZP9	AGRG2_HUMAN	224	P	S	Polymorphism	-
Q8IZQ1	WDFY3_HUMAN	2637	R	W	Disease	Microcephaly 18, primary, autosomal dominant (MCPH18) [MIM:617520]
Q8IZQ1	WDFY3_HUMAN	3032	I	V	Polymorphism	-
Q8IZS5	OFCC1_HUMAN	123	R	Q	Polymorphism	-
Q8IZS5	OFCC1_HUMAN	145	T	I	Polymorphism	-
Q8IZS5	OFCC1_HUMAN	21	S	L	Polymorphism	-
Q8IZS6	TC1D3_HUMAN	88	R	I	Polymorphism	-
Q8IZS6	TC1D3_HUMAN	121	V	A	Polymorphism	-
Q8IZS6	TC1D3_HUMAN	67	I	V	Polymorphism	-
Q8IZT6	ASPM_HUMAN	2620	Q	H	Polymorphism	-
Q8IZT6	ASPM_HUMAN	3180	Q	P	Polymorphism	-
Q8IZT6	ASPM_HUMAN	3258	H	R	Polymorphism	-
Q8IZT6	ASPM_HUMAN	1090	S	F	Polymorphism	-
Q8IZT6	ASPM_HUMAN	2526	N	D	Polymorphism	-
Q8IZT6	ASPM_HUMAN	869	T	S	Polymorphism	-
Q8IZT6	ASPM_HUMAN	2494	Y	H	Polymorphism	-
Q8IZT6	ASPM_HUMAN	430	R	G	Polymorphism	-
Q8IZT6	ASPM_HUMAN	313	I	V	Polymorphism	-
Q8IZT6	ASPM_HUMAN	2647	L	I	Polymorphism	-
Q8IZT6	ASPM_HUMAN	3132	L	R	Polymorphism	-
Q8IZT6	ASPM_HUMAN	2562	S	G	Polymorphism	-
Q8IZT8	HS3S5_HUMAN	247	I	N	Polymorphism	-
Q8IZU2	WDR17_HUMAN	1295	A	T	Polymorphism	-
Q8IZU2	WDR17_HUMAN	913	C	S	Polymorphism	-
Q8IZU2	WDR17_HUMAN	418	I	V	Polymorphism	-
Q8IZU2	WDR17_HUMAN	1215	A	T	Polymorphism	-
Q8IZU2	WDR17_HUMAN	952	E	K	Polymorphism	-
Q8IZU2	WDR17_HUMAN	814	A	T	Polymorphism	-
Q8IZU8	DSEL_HUMAN	832	T	S	Polymorphism	-
Q8IZU8	DSEL_HUMAN	1090	K	E	Unclassified	A colorectal cancer sample
Q8IZU8	DSEL_HUMAN	673	P	S	Polymorphism	-
Q8IZU8	DSEL_HUMAN	730	Y	C	Polymorphism	-
Q8IZU9	KIRR3_HUMAN	336	R	Q	Unclassified	-
Q8IZU9	KIRR3_HUMAN	731	V	F	Unclassified	-
Q8IZU9	KIRR3_HUMAN	40	R	W	Unclassified	-
Q8IZW8	TENS4_HUMAN	179	L	P	Polymorphism	-
Q8IZW8	TENS4_HUMAN	498	S	N	Polymorphism	-
Q8IZW8	TENS4_HUMAN	327	T	K	Polymorphism	-
Q8IZW8	TENS4_HUMAN	642	R	C	Unclassified	A colorectal cancer sample
Q8IZX4	TAF1L_HUMAN	47	G	A	Unclassified	A lung small cell carcinoma sample
Q8IZX4	TAF1L_HUMAN	1540	A	T	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	1356	R	C	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	1549	H	Y	Unclassified	A glioblastoma multiforme sample
Q8IZX4	TAF1L_HUMAN	1824	H	Q	Unclassified	A lung adenocarcinoma sample
Q8IZX4	TAF1L_HUMAN	1389	P	S	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	532	I	N	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	1312	V	L	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	1805	I	V	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	1810	P	L	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	794	E	D	Unclassified	A lung adenocarcinoma sample
Q8IZX4	TAF1L_HUMAN	1411	I	V	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	171	Q	E	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	1731	K	N	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	750	L	F	Unclassified	A lung adenocarcinoma sample
Q8IZX4	TAF1L_HUMAN	1038	K	N	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	1169	T	I	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	845	R	Q	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	1016	R	C	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	256	G	A	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	762	L	I	Unclassified	A lung adenocarcinoma sample
Q8IZX4	TAF1L_HUMAN	637	P	S	Polymorphism	-
Q8IZX4	TAF1L_HUMAN	371	M	V	Polymorphism	-
Q8IZY2	ABCA7_HUMAN	463	R	H	Polymorphism	-
Q8IZY2	ABCA7_HUMAN	395	H	R	Polymorphism	-
Q8IZY2	ABCA7_HUMAN	718	N	T	Polymorphism	-
Q8IZY2	ABCA7_HUMAN	676	A	T	Polymorphism	-
Q8IZY2	ABCA7_HUMAN	2045	A	S	Polymorphism	-
Q8IZY2	ABCA7_HUMAN	880	R	Q	Disease	Alzheimer disease 9 (AD9) [MIM:608907]
Q8IZY2	ABCA7_HUMAN	1527	G	A	Polymorphism	-
Q8IZY2	ABCA7_HUMAN	1686	Q	R	Polymorphism	-
Q8IZY2	ABCA7_HUMAN	319	T	A	Polymorphism	-
Q8IZY2	ABCA7_HUMAN	1349	R	Q	Polymorphism	-
Q8IZY2	ABCA7_HUMAN	188	E	G	Polymorphism	-
Q8IZY5	BLID_HUMAN	76	A	D	Polymorphism	-
Q8J025	APCD1_HUMAN	150	V	I	Polymorphism	-
Q8J025	APCD1_HUMAN	9	L	R	Disease	Hypotrichosis 1 (HYPT1) [MIM:605389]
Q8N0S2	SYCE1_HUMAN	132	E	D	Polymorphism	-
Q8N0S2	SYCE1_HUMAN	183	K	R	Polymorphism	-
Q8N0S2	SYCE1_HUMAN	317	P	A	Polymorphism	-
Q8N0S6	CENPL_HUMAN	117	I	F	Polymorphism	-
Q8N0U2	TMM61_HUMAN	40	E	K	Polymorphism	-
Q8N0U4	F185A_HUMAN	60	G	A	Polymorphism	-
Q8N0U6	CF218_HUMAN	106	Y	C	Polymorphism	-
Q8N0U7	CA087_HUMAN	185	L	V	Polymorphism	-
Q8N0U7	CA087_HUMAN	406	A	P	Polymorphism	-
Q8N0U7	CA087_HUMAN	403	K	E	Polymorphism	-
Q8N0U7	CA087_HUMAN	301	N	D	Polymorphism	-
Q8N0U7	CA087_HUMAN	151	Q	E	Unclassified	A breast cancer sample
Q8N0V3	RBFA_HUMAN	276	K	Q	Polymorphism	-
Q8N0V3	RBFA_HUMAN	245	N	H	Polymorphism	-
Q8N0V3	RBFA_HUMAN	122	V	M	Polymorphism	-
Q8N0V4	LGI2_HUMAN	444	R	Q	Polymorphism	-
Q8N0V4	LGI2_HUMAN	452	Q	R	Polymorphism	-
Q8N0V5	GNT2A_HUMAN	228	R	Q	Polymorphism	-
Q8N0V5	GNT2A_HUMAN	350	G	E	Disease	Cataract 13, with adult i phenotype (CTRCT13) [MIM:116700]
Q8N0V5	GNT2A_HUMAN	385	R	H	Disease	Cataract 13, with adult i phenotype (CTRCT13) [MIM:116700]
Q8N0V5	GNT2A_HUMAN	169	A	T	Polymorphism	-
Q8N0W3	FCSK_HUMAN	223	S	P	Unclassified	Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2) [MIM:618324]
Q8N0W3	FCSK_HUMAN	939	R	Q	Polymorphism	-
Q8N0W3	FCSK_HUMAN	683	R	C	Unclassified	Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2) [MIM:618324]
Q8N0W3	FCSK_HUMAN	939	R	W	Polymorphism	-
Q8N0W3	FCSK_HUMAN	146	V	M	Polymorphism	-
Q8N0W3	FCSK_HUMAN	858	A	T	Polymorphism	-
Q8N0W3	FCSK_HUMAN	994	K	Q	Unclassified	Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2) [MIM:618324]
Q8N0W3	FCSK_HUMAN	571	R	H	Polymorphism	-
Q8N0W3	FCSK_HUMAN	521	A	T	Polymorphism	-
Q8N0W3	FCSK_HUMAN	901	R	W	Polymorphism	-
Q8N0W3	FCSK_HUMAN	701	P	L	Polymorphism	-
Q8N0W3	FCSK_HUMAN	861	V	M	Polymorphism	-
Q8N0W4	NLGNX_HUMAN	214	G	S	Unclassified	A colorectal cancer sample
Q8N0W5	IQCK_HUMAN	220	L	P	Polymorphism	-
Q8N0W7	FMR1N_HUMAN	142	A	V	Polymorphism	-
Q8N0X2	SPG16_HUMAN	324	P	T	Polymorphism	-
Q8N0X2	SPG16_HUMAN	361	Q	H	Polymorphism	-
Q8N0X2	SPG16_HUMAN	425	K	T	Polymorphism	-
Q8N0X4	CLYBL_HUMAN	28	D	Y	Polymorphism	-
Q8N0X4	CLYBL_HUMAN	128	V	I	Polymorphism	-
Q8N0X4	CLYBL_HUMAN	241	I	V	Polymorphism	-
Q8N0X7	SPART_HUMAN	442	A	P	Unclassified	Spastic paraplegia 20, autosomal recessive (SPG20) [MIM:275900]
Q8N0X7	SPART_HUMAN	330	M	V	Disease	Spastic paraplegia 20, autosomal recessive (SPG20) [MIM:275900]
Q8N0Y3	OR4N4_HUMAN	239	T	M	Polymorphism	-
Q8N0Y3	OR4N4_HUMAN	86	L	F	Polymorphism	-
Q8N0Y3	OR4N4_HUMAN	61	L	F	Polymorphism	-
Q8N0Y3	OR4N4_HUMAN	274	F	L	Polymorphism	-
Q8N0Y5	OR8I2_HUMAN	124	I	V	Polymorphism	-
Q8N0Y5	OR8I2_HUMAN	139	K	N	Polymorphism	-
Q8N0Y7	PGAM4_HUMAN	175	I	T	Polymorphism	-
Q8N0Y7	PGAM4_HUMAN	40	R	C	Polymorphism	-
Q8N0Y7	PGAM4_HUMAN	90	R	Q	Polymorphism	-
Q8N0Z3	SPICE_HUMAN	472	R	G	Polymorphism	-
Q8N0Z3	SPICE_HUMAN	275	L	V	Polymorphism	-
Q8N0Z6	TTC5_HUMAN	14	Q	H	Polymorphism	-
Q8N0Z6	TTC5_HUMAN	47	Q	R	Polymorphism	-
Q8N0Z8	PUSL1_HUMAN	197	R	W	Polymorphism	-
Q8N0Z8	PUSL1_HUMAN	103	R	Q	Polymorphism	-
Q8N0Z9	VSI10_HUMAN	333	V	M	Polymorphism	-
Q8N0Z9	VSI10_HUMAN	435	H	Y	Polymorphism	-
Q8N100	ATOH7_HUMAN	47	A	T	Polymorphism	-
Q8N100	ATOH7_HUMAN	46	N	H	Disease	Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900]
Q8N100	ATOH7_HUMAN	49	E	V	Disease	Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900]
Q8N100	ATOH7_HUMAN	65	R	G	Polymorphism	-
Q8N103	TAGAP_HUMAN	346	G	D	Polymorphism	-
Q8N114	SHSA5_HUMAN	216	G	R	Polymorphism	-
Q8N119	MMP21_HUMAN	375	R	H	Disease	Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
Q8N119	MMP21_HUMAN	360	R	C	Disease	Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
Q8N119	MMP21_HUMAN	226	I	T	Disease	Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
Q8N119	MMP21_HUMAN	215	E	K	Disease	Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
Q8N119	MMP21_HUMAN	283	H	Y	Disease	Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
Q8N119	MMP21_HUMAN	408	R	G	Unclassified	Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
Q8N119	MMP21_HUMAN	321	A	P	Disease	Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
Q8N119	MMP21_HUMAN	285	I	T	Disease	Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
Q8N119	MMP21_HUMAN	454	A	V	Polymorphism	-
Q8N119	MMP21_HUMAN	95	A	E	Polymorphism	-
Q8N119	MMP21_HUMAN	263	D	E	Polymorphism	-
Q8N119	MMP21_HUMAN	115	P	Q	Polymorphism	-
Q8N119	MMP21_HUMAN	191	V	A	Polymorphism	-
Q8N119	MMP21_HUMAN	311	A	T	Polymorphism	-
Q8N119	MMP21_HUMAN	349	E	G	Polymorphism	-
Q8N119	MMP21_HUMAN	31	R	W	Disease	Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]
Q8N119	MMP21_HUMAN	360	R	H	Polymorphism	-
Q8N123	CPXCR_HUMAN	3	Y	S	Polymorphism	-
Q8N123	CPXCR_HUMAN	131	R	H	Polymorphism	-
Q8N126	CADM3_HUMAN	162	R	W	Polymorphism	-
Q8N127	O5AS1_HUMAN	122	R	L	Polymorphism	-
Q8N127	O5AS1_HUMAN	310	Y	C	Polymorphism	-
Q8N129	CNPY4_HUMAN	168	G	R	Polymorphism	-
Q8N130	NPT2C_HUMAN	468	R	W	Disease	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
Q8N130	NPT2C_HUMAN	337	G	S	Polymorphism	-
Q8N130	NPT2C_HUMAN	192	S	L	Disease	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
Q8N130	NPT2C_HUMAN	67	R	H	Polymorphism	-
Q8N130	NPT2C_HUMAN	353	R	L	Disease	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
Q8N130	NPT2C_HUMAN	413	A	E	Disease	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
Q8N130	NPT2C_HUMAN	180	G	A	Polymorphism	-
Q8N130	NPT2C_HUMAN	513	E	V	Polymorphism	-
Q8N130	NPT2C_HUMAN	138	S	F	Disease	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
Q8N130	NPT2C_HUMAN	237	D	N	Polymorphism	-
Q8N130	NPT2C_HUMAN	196	G	R	Disease	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
Q8N131	PORIM_HUMAN	158	A	T	Polymorphism	-
Q8N131	PORIM_HUMAN	86	V	F	Polymorphism	-
Q8N131	PORIM_HUMAN	71	V	M	Polymorphism	-
Q8N135	LGI4_HUMAN	434	V	D	Disease	Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY) [MIM:617468]
Q8N135	LGI4_HUMAN	258	R	P	Disease	Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY) [MIM:617468]
Q8N136	DAW1_HUMAN	129	T	M	Unclassified	A breast cancer sample
Q8N136	DAW1_HUMAN	27	T	I	Polymorphism	-
Q8N136	DAW1_HUMAN	317	L	F	Polymorphism	-
Q8N136	DAW1_HUMAN	121	T	S	Polymorphism	-
Q8N136	DAW1_HUMAN	259	G	S	Polymorphism	-
Q8N137	CNTRB_HUMAN	439	R	Q	Polymorphism	-
Q8N137	CNTRB_HUMAN	578	P	Q	Polymorphism	-
Q8N139	ABCA6_HUMAN	1322	N	S	Polymorphism	-
Q8N139	ABCA6_HUMAN	610	N	Y	Polymorphism	-
Q8N139	ABCA6_HUMAN	282	V	I	Polymorphism	-
Q8N139	ABCA6_HUMAN	698	M	I	Polymorphism	-
Q8N139	ABCA6_HUMAN	875	M	I	Polymorphism	-
Q8N142	PURA1_HUMAN	261	D	N	Disease	Myopathy, distal, 5 (MPD5) [MIM:617030]
Q8N145	LGI3_HUMAN	524	A	T	Polymorphism	-
Q8N146	OR8H3_HUMAN	47	L	I	Polymorphism	-
Q8N146	OR8H3_HUMAN	201	I	V	Polymorphism	-
Q8N146	OR8H3_HUMAN	295	R	K	Polymorphism	-
Q8N146	OR8H3_HUMAN	137	P	S	Polymorphism	-
Q8N148	OR6V1_HUMAN	295	V	A	Polymorphism	-
Q8N148	OR6V1_HUMAN	269	R	K	Polymorphism	-
Q8N148	OR6V1_HUMAN	237	S	F	Polymorphism	-
Q8N149	LIRA2_HUMAN	361	G	A	Polymorphism	-
Q8N149	LIRA2_HUMAN	25	H	N	Polymorphism	-
Q8N149	LIRA2_HUMAN	331	V	G	Polymorphism	-
Q8N149	LIRA2_HUMAN	25	H	L	Polymorphism	-
Q8N149	LIRA2_HUMAN	381	R	C	Polymorphism	-
Q8N157	AHI1_HUMAN	671	T	I	Disease	Joubert syndrome 3 (JBTS3) [MIM:608629]
Q8N157	AHI1_HUMAN	351	R	L	Disease	Joubert syndrome 3 (JBTS3) [MIM:608629]
Q8N157	AHI1_HUMAN	723	R	Q	Disease	Joubert syndrome 3 (JBTS3) [MIM:608629]
Q8N157	AHI1_HUMAN	933	Y	C	Polymorphism	-
Q8N157	AHI1_HUMAN	1086	E	G	Polymorphism	-
Q8N157	AHI1_HUMAN	1018	Q	P	Polymorphism	-
Q8N157	AHI1_HUMAN	49	I	N	Polymorphism	-
Q8N157	AHI1_HUMAN	830	R	W	Polymorphism	-
Q8N157	AHI1_HUMAN	1123	S	F	Polymorphism	-
Q8N157	AHI1_HUMAN	896	H	R	Disease	Joubert syndrome 3 (JBTS3) [MIM:608629]
Q8N157	AHI1_HUMAN	1140	P	S	Polymorphism	-
Q8N157	AHI1_HUMAN	856	T	S	Polymorphism	-
Q8N157	AHI1_HUMAN	548	R	H	Polymorphism	-
Q8N157	AHI1_HUMAN	761	S	L	Polymorphism	-
Q8N157	AHI1_HUMAN	719	D	G	Disease	Joubert syndrome 3 (JBTS3) [MIM:608629]
Q8N157	AHI1_HUMAN	443	V	D	Disease	Joubert syndrome 3 (JBTS3) [MIM:608629]
Q8N158	GPC2_HUMAN	200	D	N	Unclassified	A breast cancer sample
Q8N159	NAGS_HUMAN	518	A	T	Disease	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	291	I	N	Unclassified	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	512	Y	C	Unclassified	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	430	L	P	Disease	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	264	T	M	Unclassified	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	398	S	C	Unclassified	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	260	P	L	Unclassified	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	200	C	R	Disease	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	484	W	R	Disease	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	391	L	R	Unclassified	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	457	G	D	Unclassified	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	410	S	P	Disease	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	279	A	P	Disease	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N159	NAGS_HUMAN	167	M	V	Unclassified	N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
Q8N162	OR8H2_HUMAN	120	H	Y	Polymorphism	-
Q8N162	OR8H2_HUMAN	169	Y	C	Polymorphism	-
Q8N162	OR8H2_HUMAN	284	V	M	Polymorphism	-
Q8N196	SIX5_HUMAN	556	L	V	Polymorphism	-
Q8N196	SIX5_HUMAN	158	A	T	Disease	Branchiootorenal syndrome 2 (BOR2) [MIM:610896]
Q8N196	SIX5_HUMAN	365	G	R	Disease	Branchiootorenal syndrome 2 (BOR2) [MIM:610896]
Q8N196	SIX5_HUMAN	552	T	M	Disease	Branchiootorenal syndrome 2 (BOR2) [MIM:610896]
Q8N196	SIX5_HUMAN	296	A	T	Disease	Branchiootorenal syndrome 2 (BOR2) [MIM:610896]
Q8N196	SIX5_HUMAN	693	V	M	Polymorphism	-
Q8N196	SIX5_HUMAN	635	P	S	Polymorphism	-
Q8N1A6	CD033_HUMAN	166	H	R	Polymorphism	-
Q8N1A6	CD033_HUMAN	40	R	M	Polymorphism	-
Q8N1A6	CD033_HUMAN	104	S	L	Polymorphism	-
Q8N1A6	CD033_HUMAN	107	M	V	Polymorphism	-
Q8N1B3	CCNQ_HUMAN	183	C	S	Polymorphism	-
Q8N1C3	GBRG1_HUMAN	403	G	E	Polymorphism	-
Q8N1D0	BWR1B_HUMAN	89	G	D	Polymorphism	-
Q8N1D0	BWR1B_HUMAN	133	G	R	Polymorphism	-
Q8N1D5	CA158_HUMAN	191	F	L	Polymorphism	-
Q8N1E6	FXL14_HUMAN	220	L	V	Polymorphism	-
Q8N1F7	NUP93_HUMAN	509	S	R	Polymorphism	-
Q8N1F7	NUP93_HUMAN	591	G	V	Disease	Nephrotic syndrome 12 (NPHS12) [MIM:616892]
Q8N1F7	NUP93_HUMAN	388	R	W	Disease	Nephrotic syndrome 12 (NPHS12) [MIM:616892]
Q8N1F7	NUP93_HUMAN	629	Y	C	Disease	Nephrotic syndrome 12 (NPHS12) [MIM:616892]
Q8N1F8	S11IP_HUMAN	382	R	H	Polymorphism	-
Q8N1F8	S11IP_HUMAN	552	V	I	Polymorphism	-
Q8N1F8	S11IP_HUMAN	741	S	F	Polymorphism	-
Q8N1F8	S11IP_HUMAN	1074	I	V	Polymorphism	-
Q8N1F8	S11IP_HUMAN	399	R	G	Polymorphism	-
Q8N1G0	ZN687_HUMAN	344	R	T	Polymorphism	-
Q8N1G0	ZN687_HUMAN	259	G	E	Polymorphism	-
Q8N1G0	ZN687_HUMAN	937	P	R	Disease	Paget disease of bone 6 (PDB6) [MIM:616833]
Q8N1G0	ZN687_HUMAN	242	S	I	Unclassified	Paget disease of bone 6 (PDB6) [MIM:616833]
Q8N1G1	REXO1_HUMAN	804	I	V	Polymorphism	-
Q8N1G1	REXO1_HUMAN	759	S	P	Polymorphism	-
Q8N1G1	REXO1_HUMAN	408	V	A	Polymorphism	-
Q8N1G1	REXO1_HUMAN	886	S	G	Polymorphism	-
Q8N1G4	LRC47_HUMAN	581	V	I	Polymorphism	-
Q8N1G4	LRC47_HUMAN	193	E	D	Unclassified	A colorectal cancer sample
Q8N1G4	LRC47_HUMAN	545	P	L	Polymorphism	-
Q8N1H7	S6OS1_HUMAN	404	V	I	Polymorphism	-
Q8N1H7	S6OS1_HUMAN	125	Y	C	Polymorphism	-
Q8N1H7	S6OS1_HUMAN	309	S	L	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	1914	V	I	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	1822	Q	K	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	853	R	H	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	1580	F	L	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	535	N	D	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	87	T	I	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	606	E	Q	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	1917	P	L	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	1926	S	L	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	1570	R	K	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	1718	P	L	Unclassified	-
Q8N1I0	DOCK4_HUMAN	1059	K	T	Unclassified	-
Q8N1I0	DOCK4_HUMAN	1884	V	M	Polymorphism	-
Q8N1I0	DOCK4_HUMAN	1755	S	P	Unclassified	-
Q8N1I0	DOCK4_HUMAN	1733	P	A	Polymorphism	-
Q8N1K5	THMS1_HUMAN	284	V	G	Polymorphism	-
Q8N1K5	THMS1_HUMAN	630	I	V	Polymorphism	-
Q8N1L9	BATF2_HUMAN	6	G	S	Polymorphism	-
Q8N1M1	BEST3_HUMAN	622	E	G	Polymorphism	-
Q8N1M1	BEST3_HUMAN	43	Y	H	Polymorphism	-
Q8N1N0	CLC4F_HUMAN	101	R	Q	Polymorphism	-
Q8N1N0	CLC4F_HUMAN	351	R	H	Polymorphism	-
Q8N1N0	CLC4F_HUMAN	564	K	R	Polymorphism	-
Q8N1N2	DYNAP_HUMAN	189	T	P	Polymorphism	-
Q8N1N2	DYNAP_HUMAN	38	V	A	Polymorphism	-
Q8N1N4	K2C78_HUMAN	92	L	P	Polymorphism	-
Q8N1N4	K2C78_HUMAN	25	R	H	Polymorphism	-
Q8N1N4	K2C78_HUMAN	238	A	T	Polymorphism	-
Q8N1N4	K2C78_HUMAN	224	G	A	Polymorphism	-
Q8N1N5	CRPAK_HUMAN	120	V	M	Polymorphism	-
Q8N1N5	CRPAK_HUMAN	95	H	R	Polymorphism	-
Q8N1N5	CRPAK_HUMAN	89	C	Y	Polymorphism	-
Q8N1N5	CRPAK_HUMAN	95	H	P	Polymorphism	-
Q8N1P7	CRBG2_HUMAN	1294	S	N	Polymorphism	-
Q8N1Q1	CAH13_HUMAN	68	N	S	Polymorphism	-
Q8N1Q8	THEM5_HUMAN	206	L	V	Polymorphism	-
Q8N1Q8	THEM5_HUMAN	55	Y	S	Polymorphism	-
Q8N1Q8	THEM5_HUMAN	197	D	G	Polymorphism	-
Q8N1S5	S39AB_HUMAN	111	T	A	Polymorphism	-
Q8N1T3	MYO1H_HUMAN	705	H	Y	Polymorphism	-
Q8N1T3	MYO1H_HUMAN	1011	L	P	Polymorphism	-
Q8N1T3	MYO1H_HUMAN	37	S	R	Polymorphism	-
Q8N1V2	CFA52_HUMAN	336	E	K	Polymorphism	-
Q8N1W1	ARG28_HUMAN	780	H	N	Polymorphism	-
Q8N1W1	ARG28_HUMAN	1640	H	Q	Polymorphism	-
Q8N1W1	ARG28_HUMAN	225	W	R	Polymorphism	-
Q8N1W1	ARG28_HUMAN	284	P	Q	Polymorphism	-
Q8N1W1	ARG28_HUMAN	544	S	L	Polymorphism	-
Q8N1W1	ARG28_HUMAN	585	R	K	Polymorphism	-
Q8N1W1	ARG28_HUMAN	1548	P	S	Polymorphism	-
Q8N1W1	ARG28_HUMAN	98	R	M	Polymorphism	-
Q8N201	INT1_HUMAN	172	P	L	Polymorphism	-
Q8N205	SYNE4_HUMAN	278	Q	H	Polymorphism	-
Q8N205	SYNE4_HUMAN	224	S	L	Polymorphism	-
Q8N228	SCML4_HUMAN	126	R	Q	Polymorphism	-
Q8N271	PROM2_HUMAN	508	Q	R	Polymorphism	-
Q8N283	ANR35_HUMAN	592	R	Q	Polymorphism	-
Q8N283	ANR35_HUMAN	978	N	D	Polymorphism	-
Q8N283	ANR35_HUMAN	428	P	S	Polymorphism	-
Q8N283	ANR35_HUMAN	53	N	K	Polymorphism	-
Q8N292	GAPT_HUMAN	83	A	T	Polymorphism	-
Q8N2A8	PLD6_HUMAN	108	R	H	Polymorphism	-
Q8N2A8	PLD6_HUMAN	42	L	P	Polymorphism	-
Q8N2B8	YB035_HUMAN	127	R	Q	Unclassified	A colorectal cancer sample
Q8N2C3	DEPD4_HUMAN	122	H	R	Polymorphism	-
Q8N2C7	UNC80_HUMAN	1700	P	S	Disease	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) [MIM:616801]
Q8N2C7	UNC80_HUMAN	131	R	W	Polymorphism	-
Q8N2C7	UNC80_HUMAN	1505	D	G	Polymorphism	-
Q8N2C7	UNC80_HUMAN	189	V	M	Disease	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) [MIM:616801]
Q8N2C9	UMAS1_HUMAN	98	V	F	Polymorphism	-
Q8N2E2	VWDE_HUMAN	1032	T	M	Polymorphism	-
Q8N2E2	VWDE_HUMAN	1485	F	C	Polymorphism	-
Q8N2E2	VWDE_HUMAN	964	K	N	Polymorphism	-
Q8N2E2	VWDE_HUMAN	1256	Q	K	Polymorphism	-
Q8N2E2	VWDE_HUMAN	607	S	F	Polymorphism	-
Q8N2F6	ARM10_HUMAN	190	P	S	Polymorphism	-
Q8N2G6	ZCH24_HUMAN	43	E	V	Polymorphism	-
Q8N2H3	PYRD2_HUMAN	461	M	T	Polymorphism	-
Q8N2H3	PYRD2_HUMAN	533	A	T	Polymorphism	-
Q8N2H3	PYRD2_HUMAN	428	P	S	Polymorphism	-
Q8N2H9	PELI3_HUMAN	287	V	M	Polymorphism	-
Q8N2I9	STK40_HUMAN	211	R	Q	Unclassified	A colorectal adenocarcinoma sample
Q8N2I9	STK40_HUMAN	395	A	T	Polymorphism	-
Q8N2I9	STK40_HUMAN	10	A	V	Polymorphism	-
Q8N2I9	STK40_HUMAN	133	M	T	Unclassified	A colorectal adenocarcinoma sample
Q8N2K0	ABD12_HUMAN	372	H	Q	Unclassified	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
Q8N2K0	ABD12_HUMAN	202	T	I	Unclassified	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
Q8N2K0	ABD12_HUMAN	253	T	R	Disease	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
Q8N2K0	ABD12_HUMAN	349	A	T	Polymorphism	-
Q8N2K0	ABD12_HUMAN	186	R	P	Unclassified	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
Q8N2M4	TM86A_HUMAN	215	V	A	Polymorphism	-
Q8N2M8	CLASR_HUMAN	213	L	S	Unclassified	A breast cancer sample
Q8N2M8	CLASR_HUMAN	174	K	E	Polymorphism	-
Q8N2N9	AN36B_HUMAN	483	E	G	Polymorphism	-
Q8N2N9	AN36B_HUMAN	496	E	D	Polymorphism	-
Q8N2N9	AN36B_HUMAN	534	S	A	Polymorphism	-
Q8N2S1	LTBP4_HUMAN	787	T	A	Polymorphism	-
Q8N2S1	LTBP4_HUMAN	311	C	G	Disease	Urban-Rifkin-Davis syndrome (URDS) [MIM:613177]
Q8N2S1	LTBP4_HUMAN	635	R	G	Polymorphism	-
Q8N2S1	LTBP4_HUMAN	194	V	I	Polymorphism	-
Q8N2S1	LTBP4_HUMAN	679	P	A	Polymorphism	-
Q8N2S1	LTBP4_HUMAN	820	T	A	Polymorphism	-
Q8N2S1	LTBP4_HUMAN	1141	T	M	Polymorphism	-
Q8N2U9	S66A2_HUMAN	175	G	A	Unclassified	A colorectal cancer sample
Q8N2X6	EXAS1_HUMAN	118	R	G	Polymorphism	-
Q8N2X6	EXAS1_HUMAN	50	P	S	Polymorphism	-
Q8N2Y8	RUSC2_HUMAN	73	T	A	Polymorphism	-
Q8N2Y8	RUSC2_HUMAN	654	P	L	Polymorphism	-
Q8N302	AGGF1_HUMAN	471	L	P	Polymorphism	-
Q8N302	AGGF1_HUMAN	180	T	A	Polymorphism	-
Q8N302	AGGF1_HUMAN	698	P	T	Polymorphism	-
Q8N302	AGGF1_HUMAN	133	E	K	Disease	Klippel-Trenaunay syndrome (KTS) [MIM:149000]
Q8N307	MUC20_HUMAN	671	S	C	Polymorphism	-
Q8N307	MUC20_HUMAN	514	G	R	Polymorphism	-
Q8N307	MUC20_HUMAN	442	T	I	Polymorphism	-
Q8N307	MUC20_HUMAN	18	V	G	Polymorphism	-
Q8N307	MUC20_HUMAN	666	R	W	Polymorphism	-
Q8N307	MUC20_HUMAN	3	C	S	Polymorphism	-
Q8N307	MUC20_HUMAN	590	P	L	Polymorphism	-
Q8N309	LRC43_HUMAN	256	Q	K	Polymorphism	-
Q8N319	CF223_HUMAN	107	V	M	Polymorphism	-
Q8N319	CF223_HUMAN	48	K	E	Polymorphism	-
Q8N323	NXPE1_HUMAN	353	G	R	Polymorphism	-
Q8N323	NXPE1_HUMAN	423	I	T	Polymorphism	-
Q8N326	CJ111_HUMAN	70	R	K	Polymorphism	-
Q8N328	PGBD3_HUMAN	415	D	G	Unclassified	A breast cancer sample
Q8N328	PGBD3_HUMAN	382	R	K	Polymorphism	-
Q8N328	PGBD3_HUMAN	446	Q	E	Polymorphism	-
Q8N335	GPD1L_HUMAN	280	A	V	Unclassified	Brugada syndrome 2 (BRGDA2) [MIM:611777]
Q8N335	GPD1L_HUMAN	178	L	F	Polymorphism	-
Q8N335	GPD1L_HUMAN	83	E	K	Unclassified	Brugada syndrome 2 (BRGDA2) [MIM:611777]
Q8N335	GPD1L_HUMAN	124	I	V	Unclassified	Brugada syndrome 2 (BRGDA2) [MIM:611777]
Q8N335	GPD1L_HUMAN	273	R	C	Unclassified	Brugada syndrome 2 (BRGDA2) [MIM:611777]
Q8N339	MT1M_HUMAN	20	T	K	Polymorphism	-
Q8N344	MIER2_HUMAN	68	D	N	Polymorphism	-
Q8N344	MIER2_HUMAN	464	P	S	Polymorphism	-
Q8N344	MIER2_HUMAN	485	S	G	Polymorphism	-
Q8N344	MIER2_HUMAN	104	D	N	Polymorphism	-
Q8N344	MIER2_HUMAN	289	R	W	Unclassified	-
Q8N349	OR2LD_HUMAN	265	R	H	Polymorphism	-
Q8N349	OR2LD_HUMAN	156	L	F	Polymorphism	-
Q8N371	KDM8_HUMAN	302	E	D	Polymorphism	-
Q8N386	LRC25_HUMAN	234	P	T	Polymorphism	-
Q8N386	LRC25_HUMAN	294	P	S	Polymorphism	-
Q8N387	MUC15_HUMAN	184	I	T	Polymorphism	-
Q8N387	MUC15_HUMAN	19	S	W	Polymorphism	-
Q8N387	MUC15_HUMAN	202	T	I	Polymorphism	-
Q8N392	RHG18_HUMAN	165	Q	H	Polymorphism	-
Q8N392	RHG18_HUMAN	23	T	A	Polymorphism	-
Q8N392	RHG18_HUMAN	91	N	S	Polymorphism	-
Q8N394	TMTC2_HUMAN	443	Y	S	Polymorphism	-
Q8N394	TMTC2_HUMAN	315	A	T	Polymorphism	-
Q8N394	TMTC2_HUMAN	741	D	Y	Polymorphism	-
Q8N398	VW5B2_HUMAN	200	P	S	Polymorphism	-
Q8N3A8	PARP8_HUMAN	777	S	A	Unclassified	A colorectal cancer sample
Q8N3C0	ASCC3_HUMAN	1930	V	M	Polymorphism	-
Q8N3C0	ASCC3_HUMAN	1995	S	C	Polymorphism	-
Q8N3C0	ASCC3_HUMAN	1425	V	A	Polymorphism	-
Q8N3C0	ASCC3_HUMAN	1800	C	W	Polymorphism	-
Q8N3C0	ASCC3_HUMAN	2176	Y	C	Polymorphism	-
Q8N3C0	ASCC3_HUMAN	1497	R	T	Polymorphism	-
Q8N3C0	ASCC3_HUMAN	1050	V	I	Polymorphism	-
Q8N3C0	ASCC3_HUMAN	344	E	K	Polymorphism	-
Q8N3C0	ASCC3_HUMAN	146	L	F	Polymorphism	-
Q8N3C0	ASCC3_HUMAN	478	N	S	Polymorphism	-
Q8N3C0	ASCC3_HUMAN	1016	S	C	Polymorphism	-
Q8N3C7	CLIP4_HUMAN	613	T	P	Polymorphism	-
Q8N3C7	CLIP4_HUMAN	486	R	L	Polymorphism	-
Q8N3D4	EH1L1_HUMAN	648	T	I	Polymorphism	-
Q8N3D4	EH1L1_HUMAN	307	R	Q	Polymorphism	-
Q8N3D4	EH1L1_HUMAN	133	V	L	Polymorphism	-
Q8N3D4	EH1L1_HUMAN	599	T	I	Polymorphism	-
Q8N3D4	EH1L1_HUMAN	569	D	V	Polymorphism	-
Q8N3D4	EH1L1_HUMAN	538	V	G	Polymorphism	-
Q8N3E9	PLCD3_HUMAN	652	P	L	Polymorphism	-
Q8N3F8	MILK1_HUMAN	583	P	L	Polymorphism	-
Q8N3F8	MILK1_HUMAN	817	E	K	Unclassified	A breast cancer sample
Q8N3F8	MILK1_HUMAN	519	A	S	Polymorphism	-
Q8N3F8	MILK1_HUMAN	685	H	R	Polymorphism	-
Q8N3F9	G137C_HUMAN	248	V	I	Polymorphism	-
Q8N3G9	TM130_HUMAN	407	E	V	Polymorphism	-
Q8N3I7	BBS5_HUMAN	251	N	D	Polymorphism	-
Q8N3I7	BBS5_HUMAN	72	G	S	Disease	Bardet-Biedl syndrome 5 (BBS5) [MIM:615983]
Q8N3I7	BBS5_HUMAN	183	T	A	Disease	Bardet-Biedl syndrome 5 (BBS5) [MIM:615983]
Q8N3I7	BBS5_HUMAN	207	R	H	Polymorphism	-
Q8N3I7	BBS5_HUMAN	184	N	S	Polymorphism	-
Q8N3J2	METL4_HUMAN	163	L	F	Polymorphism	-
Q8N3J2	METL4_HUMAN	310	Q	K	Polymorphism	-
Q8N3J2	METL4_HUMAN	42	S	F	Unclassified	-
Q8N3J2	METL4_HUMAN	468	V	L	Polymorphism	-
Q8N3J2	METL4_HUMAN	230	E	D	Polymorphism	-
Q8N3J3	CQ053_HUMAN	126	T	P	Polymorphism	-
Q8N3J5	PPM1K_HUMAN	321	E	K	Polymorphism	-
Q8N3J5	PPM1K_HUMAN	26	R	H	Polymorphism	-
Q8N3J5	PPM1K_HUMAN	94	N	K	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1917	D	G	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1875	A	V	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1380	I	V	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	2935	G	R	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1309	I	V	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1295	A	V	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1599	S	A	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1669	L	S	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1920	S	G	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1567	A	E	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1006	V	A	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	3358	H	Q	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	175	Q	H	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	3927	R	Q	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	190	D	G	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	591	G	D	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	349	G	D	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1713	I	N	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1721	I	V	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	4063	P	L	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	651	S	R	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	2383	K	E	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	3583	K	E	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	2906	K	N	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	2693	T	I	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	2262	V	L	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	64	Y	C	Polymorphism	-
Q8N3K9	CMYA5_HUMAN	1333	A	V	Polymorphism	-
Q8N3L3	TXLNB_HUMAN	602	A	P	Polymorphism	-
Q8N3L3	TXLNB_HUMAN	11	A	T	Polymorphism	-
Q8N3L3	TXLNB_HUMAN	348	V	M	Polymorphism	-
Q8N3L3	TXLNB_HUMAN	527	I	T	Polymorphism	-
Q8N3P4	VPS8_HUMAN	1372	R	H	Polymorphism	-
Q8N3P4	VPS8_HUMAN	1165	H	Y	Polymorphism	-
Q8N3P4	VPS8_HUMAN	83	I	V	Polymorphism	-
Q8N3P4	VPS8_HUMAN	1364	I	T	Polymorphism	-
Q8N3R3	TCAIM_HUMAN	4	H	P	Polymorphism	-
Q8N3T1	GLT15_HUMAN	324	P	A	Polymorphism	-
Q8N3T1	GLT15_HUMAN	432	A	T	Polymorphism	-
Q8N3T1	GLT15_HUMAN	510	H	Y	Polymorphism	-
Q8N3T1	GLT15_HUMAN	68	V	G	Polymorphism	-
Q8N3T1	GLT15_HUMAN	151	P	L	Polymorphism	-
Q8N3T6	T132C_HUMAN	232	V	M	Polymorphism	-
Q8N3T6	T132C_HUMAN	799	F	I	Polymorphism	-
Q8N3T6	T132C_HUMAN	810	G	R	Polymorphism	-
Q8N3T6	T132C_HUMAN	730	T	S	Polymorphism	-
Q8N3T6	T132C_HUMAN	444	V	I	Polymorphism	-
Q8N3T6	T132C_HUMAN	161	H	R	Polymorphism	-
Q8N3T6	T132C_HUMAN	272	V	I	Polymorphism	-
Q8N3U4	STAG2_HUMAN	699	N	K	Polymorphism	-
Q8N3X1	FNBP4_HUMAN	125	E	G	Polymorphism	-
Q8N3X1	FNBP4_HUMAN	228	T	M	Unclassified	-
Q8N3X1	FNBP4_HUMAN	794	T	A	Polymorphism	-
Q8N3Y1	FBXW8_HUMAN	563	V	M	Polymorphism	-
Q8N3Y1	FBXW8_HUMAN	192	R	Q	Polymorphism	-
Q8N3Y1	FBXW8_HUMAN	211	T	A	Polymorphism	-
Q8N3Y1	FBXW8_HUMAN	536	T	M	Polymorphism	-
Q8N3Y3	LARG2_HUMAN	37	E	K	Polymorphism	-
Q8N3Y3	LARG2_HUMAN	546	R	W	Polymorphism	-
Q8N3Y3	LARG2_HUMAN	677	R	C	Polymorphism	-
Q8N3Y7	RDHE2_HUMAN	62	R	W	Polymorphism	-
Q8N3Z0	PRS35_HUMAN	224	R	Q	Polymorphism	-
Q8N3Z3	GTPB8_HUMAN	242	Q	H	Polymorphism	-
Q8N3Z6	ZCHC7_HUMAN	118	G	D	Polymorphism	-
Q8N3Z6	ZCHC7_HUMAN	539	R	K	Polymorphism	-
Q8N402	YV020_HUMAN	97	P	L	Polymorphism	-
Q8N402	YV020_HUMAN	114	T	S	Polymorphism	-
Q8N402	YV020_HUMAN	131	T	P	Polymorphism	-
Q8N412	STPG2_HUMAN	420	V	A	Polymorphism	-
Q8N412	STPG2_HUMAN	125	Y	H	Polymorphism	-
Q8N412	STPG2_HUMAN	178	I	V	Polymorphism	-
Q8N412	STPG2_HUMAN	279	K	R	Polymorphism	-
Q8N412	STPG2_HUMAN	111	C	W	Polymorphism	-
Q8N412	STPG2_HUMAN	112	F	V	Polymorphism	-
Q8N413	S2545_HUMAN	251	R	Q	Polymorphism	-
Q8N413	S2545_HUMAN	224	M	V	Polymorphism	-
Q8N423	LIRB2_HUMAN	161	E	D	Polymorphism	-
Q8N423	LIRB2_HUMAN	300	H	Y	Polymorphism	-
Q8N423	LIRB2_HUMAN	403	D	N	Polymorphism	-
Q8N423	LIRB2_HUMAN	235	V	M	Polymorphism	-
Q8N423	LIRB2_HUMAN	322	R	H	Polymorphism	-
Q8N423	LIRB2_HUMAN	306	C	W	Polymorphism	-
Q8N423	LIRB2_HUMAN	324	T	R	Polymorphism	-
Q8N423	LIRB2_HUMAN	326	F	S	Polymorphism	-
Q8N423	LIRB2_HUMAN	349	R	G	Polymorphism	-
Q8N423	LIRB2_HUMAN	20	H	R	Polymorphism	-
Q8N427	TXND3_HUMAN	289	I	T	Unclassified	A breast cancer sample
Q8N427	TXND3_HUMAN	43	R	K	Polymorphism	-
Q8N427	TXND3_HUMAN	208	C	R	Polymorphism	-
Q8N427	TXND3_HUMAN	493	I	T	Polymorphism	-
Q8N428	GLT16_HUMAN	201	V	M	Polymorphism	-
Q8N428	GLT16_HUMAN	497	P	S	Polymorphism	-
Q8N434	SVOPL_HUMAN	385	F	C	Polymorphism	-
Q8N436	CPXM2_HUMAN	750	Q	R	Polymorphism	-
Q8N441	FGRL1_HUMAN	464	P	L	Polymorphism	-
Q8N441	FGRL1_HUMAN	362	P	Q	Polymorphism	-
Q8N442	GUF1_HUMAN	329	T	I	Polymorphism	-
Q8N442	GUF1_HUMAN	609	A	S	Disease	Epileptic encephalopathy, early infantile, 40 (EIEE40) [MIM:617065]
Q8N442	GUF1_HUMAN	58	L	P	Polymorphism	-
Q8N448	LNX2_HUMAN	198	S	P	Polymorphism	-
Q8N456	LRC18_HUMAN	31	R	H	Polymorphism	-
Q8N456	LRC18_HUMAN	7	G	V	Polymorphism	-
Q8N461	FXL16_HUMAN	429	L	P	Polymorphism	-
Q8N465	D2HDH_HUMAN	15	R	G	Polymorphism	-
Q8N465	D2HDH_HUMAN	147	I	S	Disease	D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721]
Q8N465	D2HDH_HUMAN	436	G	V	Polymorphism	-
Q8N465	D2HDH_HUMAN	375	D	Y	Disease	D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721]
Q8N465	D2HDH_HUMAN	338	V	I	Polymorphism	-
Q8N465	D2HDH_HUMAN	361	A	V	Polymorphism	-
Q8N465	D2HDH_HUMAN	444	V	A	Disease	D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721]
Q8N465	D2HDH_HUMAN	439	N	D	Disease	D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721]
Q8N468	MFD4A_HUMAN	314	G	A	Polymorphism	-
Q8N468	MFD4A_HUMAN	228	L	I	Polymorphism	-
Q8N475	FSTL5_HUMAN	92	L	I	Unclassified	A colorectal cancer sample
Q8N475	FSTL5_HUMAN	815	K	E	Polymorphism	-
Q8N475	FSTL5_HUMAN	711	D	Y	Polymorphism	-
Q8N485	LIX1_HUMAN	3	R	I	Polymorphism	-
Q8N490	PNKD_HUMAN	7	A	V	Disease	Dystonia 8 (DYT8) [MIM:118800]
Q8N490	PNKD_HUMAN	9	A	V	Disease	Dystonia 8 (DYT8) [MIM:118800]
Q8N4A0	GALT4_HUMAN	506	V	I	Polymorphism	-
Q8N4A0	GALT4_HUMAN	51	D	G	Polymorphism	-
Q8N4A0	GALT4_HUMAN	270	I	T	Polymorphism	-
Q8N4B4	FBX39_HUMAN	10	P	S	Polymorphism	-
Q8N4B4	FBX39_HUMAN	363	I	M	Polymorphism	-
Q8N4B4	FBX39_HUMAN	166	Y	C	Polymorphism	-
Q8N4B4	FBX39_HUMAN	221	S	T	Polymorphism	-
Q8N4B4	FBX39_HUMAN	231	L	F	Polymorphism	-
Q8N4B5	PRR18_HUMAN	136	C	S	Polymorphism	-
Q8N4C6	NIN_HUMAN	1222	Q	R	Disease	Seckel syndrome 7 (SCKL7) [MIM:614851]
Q8N4C6	NIN_HUMAN	1125	Q	P	Polymorphism	-
Q8N4C6	NIN_HUMAN	1934	Q	E	Polymorphism	-
Q8N4C6	NIN_HUMAN	1709	N	S	Disease	Seckel syndrome 7 (SCKL7) [MIM:614851]
Q8N4C6	NIN_HUMAN	1320	G	E	Polymorphism	-
Q8N4C6	NIN_HUMAN	1837	S	T	Polymorphism	-
Q8N4C6	NIN_HUMAN	1111	P	A	Polymorphism	-
Q8N4C8	MINK1_HUMAN	863	V	I	Polymorphism	-
Q8N4C8	MINK1_HUMAN	1010	E	V	Unclassified	A gastric adenocarcinoma sample
Q8N4C8	MINK1_HUMAN	1200	I	V	Polymorphism	-
Q8N4C8	MINK1_HUMAN	514	A	T	Polymorphism	-
Q8N4C8	MINK1_HUMAN	771	V	A	Polymorphism	-
Q8N4C8	MINK1_HUMAN	775	P	L	Polymorphism	-
Q8N4C9	CQ078_HUMAN	152	T	S	Polymorphism	-
Q8N4F0	BPIB2_HUMAN	63	A	V	Polymorphism	-
Q8N4F0	BPIB2_HUMAN	31	K	M	Polymorphism	-
Q8N4F0	BPIB2_HUMAN	20	A	V	Unclassified	A colorectal cancer sample
Q8N4F7	RN175_HUMAN	159	M	V	Polymorphism	-
Q8N4F7	RN175_HUMAN	307	L	F	Polymorphism	-
Q8N4F7	RN175_HUMAN	315	I	M	Polymorphism	-
Q8N4F7	RN175_HUMAN	322	I	N	Polymorphism	-
Q8N4G2	ARL14_HUMAN	83	D	N	Polymorphism	-
Q8N4G2	ARL14_HUMAN	117	P	T	Polymorphism	-
Q8N4H0	SPA6L_HUMAN	243	R	G	Polymorphism	-
Q8N4H0	SPA6L_HUMAN	310	A	T	Polymorphism	-
Q8N4M1	CTL3_HUMAN	441	G	W	Unclassified	-
Q8N4M1	CTL3_HUMAN	438	V	I	Polymorphism	-
Q8N4N8	KIF2B_HUMAN	148	P	S	Polymorphism	-
Q8N4N8	KIF2B_HUMAN	417	P	S	Polymorphism	-
Q8N4N8	KIF2B_HUMAN	437	R	G	Polymorphism	-
Q8N4N8	KIF2B_HUMAN	112	A	V	Polymorphism	-
Q8N4N8	KIF2B_HUMAN	128	G	R	Polymorphism	-
Q8N4P2	TT30B_HUMAN	117	R	H	Polymorphism	-
Q8N4P2	TT30B_HUMAN	446	I	V	Polymorphism	-
Q8N4P6	LRC71_HUMAN	483	R	H	Polymorphism	-
Q8N4P6	LRC71_HUMAN	503	S	A	Polymorphism	-
Q8N4P6	LRC71_HUMAN	533	A	T	Polymorphism	-
Q8N4Q0	PTGR3_HUMAN	323	C	F	Polymorphism	-
Q8N4S0	CCD82_HUMAN	327	Q	R	Polymorphism	-
Q8N4S0	CCD82_HUMAN	149	Q	E	Polymorphism	-
Q8N4S0	CCD82_HUMAN	128	K	R	Polymorphism	-
Q8N4S9	MALD2_HUMAN	33	T	I	Polymorphism	-
Q8N4T0	CBPA6_HUMAN	45	F	L	Polymorphism	-
Q8N4T0	CBPA6_HUMAN	270	A	V	Disease	Febrile seizures, familial, 11 (FEB11) [MIM:614418]
Q8N4T0	CBPA6_HUMAN	267	G	R	Disease	Epilepsy, familial temporal lobe, 5 (ETL5) [MIM:614417]
Q8N4T0	CBPA6_HUMAN	249	N	S	Polymorphism	-
Q8N4T0	CBPA6_HUMAN	173	S	C	Polymorphism	-
Q8N4T4	ARG39_HUMAN	306	H	R	Polymorphism	-
Q8N4T4	ARG39_HUMAN	5	C	F	Polymorphism	-
Q8N4T8	CBR4_HUMAN	70	L	M	Polymorphism	-
Q8N4U5	T11L2_HUMAN	261	D	N	Polymorphism	-
Q8N4U5	T11L2_HUMAN	41	A	T	Polymorphism	-
Q8N4U5	T11L2_HUMAN	82	A	S	Polymorphism	-
Q8N4W9	ZN808_HUMAN	262	D	N	Polymorphism	-
Q8N4W9	ZN808_HUMAN	134	K	N	Polymorphism	-
Q8N4X5	AF1L2_HUMAN	366	S	R	Polymorphism	-
Q8N4X5	AF1L2_HUMAN	726	E	K	Polymorphism	-
Q8N4X5	AF1L2_HUMAN	138	G	R	Polymorphism	-
Q8N4X5	AF1L2_HUMAN	522	T	S	Polymorphism	-
Q8N4Y2	EFC4A_HUMAN	248	S	I	Polymorphism	-
Q8N4Y2	EFC4A_HUMAN	77	R	Q	Polymorphism	-
Q8N4Y2	EFC4A_HUMAN	153	K	E	Polymorphism	-
Q8N4Y2	EFC4A_HUMAN	173	G	S	Polymorphism	-
Q8N511	TM199_HUMAN	31	R	P	Disease	Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829]
Q8N511	TM199_HUMAN	14	A	P	Disease	Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829]
Q8N511	TM199_HUMAN	7	A	G	Disease	Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829]
Q8N511	TM199_HUMAN	166	L	V	Polymorphism	-
Q8N511	TM199_HUMAN	158	V	I	Polymorphism	-
Q8N543	OGFD1_HUMAN	173	P	S	Polymorphism	-
Q8N554	ZN276_HUMAN	605	E	D	Polymorphism	-
Q8N554	ZN276_HUMAN	263	W	R	Polymorphism	-
Q8N554	ZN276_HUMAN	351	R	W	Polymorphism	-
Q8N554	ZN276_HUMAN	275	R	W	Unclassified	-
Q8N556	AFAP1_HUMAN	518	V	M	Polymorphism	-
Q8N556	AFAP1_HUMAN	403	S	C	Polymorphism	-
Q8N565	MREG_HUMAN	15	G	R	Polymorphism	-
Q8N567	ZCHC9_HUMAN	15	P	A	Polymorphism	-
Q8N568	DCLK2_HUMAN	583	I	V	Polymorphism	-
Q8N568	DCLK2_HUMAN	212	V	M	Unclassified	-
Q8N568	DCLK2_HUMAN	119	G	C	Polymorphism	-
Q8N568	DCLK2_HUMAN	372	R	H	Polymorphism	-
Q8N573	OXR1_HUMAN	360	Q	P	Polymorphism	-
Q8N573	OXR1_HUMAN	100	E	G	Polymorphism	-
Q8N573	OXR1_HUMAN	516	K	R	Polymorphism	-
Q8N5A5	ZGPAT_HUMAN	61	S	R	Polymorphism	-
Q8N5B7	CERS5_HUMAN	75	C	R	Polymorphism	-
Q8N5C6	SRBD1_HUMAN	361	T	M	Polymorphism	-
Q8N5C6	SRBD1_HUMAN	798	V	F	Polymorphism	-
Q8N5C6	SRBD1_HUMAN	811	K	R	Polymorphism	-
Q8N5C7	DTWD1_HUMAN	25	S	P	Polymorphism	-
Q8N5C7	DTWD1_HUMAN	13	E	K	Polymorphism	-
Q8N5C7	DTWD1_HUMAN	9	L	P	Polymorphism	-
Q8N5C8	TAB3_HUMAN	394	R	W	Polymorphism	-
Q8N5D6	GBGT1_HUMAN	20	L	F	Polymorphism	-
Q8N5D6	GBGT1_HUMAN	21	S	G	Polymorphism	-
Q8N5D6	GBGT1_HUMAN	200	D	N	Polymorphism	-
Q8N5D6	GBGT1_HUMAN	163	R	W	Polymorphism	-
Q8N5D6	GBGT1_HUMAN	238	Q	P	Polymorphism	-
Q8N5D6	GBGT1_HUMAN	248	T	I	Polymorphism	-
Q8N5D6	GBGT1_HUMAN	291	I	F	Polymorphism	-
Q8N5D6	GBGT1_HUMAN	79	L	P	Polymorphism	-
Q8N5F7	NKAP_HUMAN	115	P	H	Polymorphism	-
Q8N5G0	SIM20_HUMAN	8	A	T	Polymorphism	-
Q8N5H7	SH2D3_HUMAN	23	L	F	Polymorphism	-
Q8N5I2	ARRD1_HUMAN	363	G	C	Polymorphism	-
Q8N5I4	DHRSX_HUMAN	292	H	R	Polymorphism	-
Q8N5I4	DHRSX_HUMAN	297	E	K	Polymorphism	-
Q8N5I4	DHRSX_HUMAN	247	V	L	Polymorphism	-
Q8N5I9	CL045_HUMAN	8	K	Q	Polymorphism	-
Q8N5I9	CL045_HUMAN	5	G	S	Polymorphism	-
Q8N5J2	MINY1_HUMAN	385	T	K	Polymorphism	-
Q8N5M1	ATPF2_HUMAN	94	W	R	Disease	Mitochondrial complex V deficiency, nuclear type 1 (MC5DN1) [MIM:604273]
Q8N5M9	JAGN1_HUMAN	20	R	Q	Disease	Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]
Q8N5M9	JAGN1_HUMAN	21	E	D	Disease	Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]
Q8N5M9	JAGN1_HUMAN	44	H	Y	Disease	Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]
Q8N5M9	JAGN1_HUMAN	162	Q	R	Disease	Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]
Q8N5M9	JAGN1_HUMAN	14	G	S	Disease	Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022]
Q8N5N7	RM50_HUMAN	127	L	F	Polymorphism	-
Q8N5P1	ZC3H8_HUMAN	240	C	W	Polymorphism	-
Q8N5R6	CCD33_HUMAN	635	M	V	Polymorphism	-
Q8N5R6	CCD33_HUMAN	683	S	N	Polymorphism	-
Q8N5R6	CCD33_HUMAN	640	R	L	Polymorphism	-
Q8N5S1	S2541_HUMAN	258	T	S	Polymorphism	-
Q8N5S1	S2541_HUMAN	144	G	S	Polymorphism	-
Q8N5S3	CB073_HUMAN	275	R	T	Polymorphism	-
Q8N5S3	CB073_HUMAN	29	H	N	Polymorphism	-
Q8N5S3	CB073_HUMAN	254	P	L	Polymorphism	-
Q8N5S9	KKCC1_HUMAN	375	E	G	Polymorphism	-
Q8N5T2	TBC19_HUMAN	241	S	G	Polymorphism	-
Q8N5T2	TBC19_HUMAN	509	S	F	Polymorphism	-
Q8N5U0	CK042_HUMAN	242	P	S	Polymorphism	-
Q8N5U1	M4A15_HUMAN	47	L	R	Polymorphism	-
Q8N5U1	M4A15_HUMAN	20	S	G	Polymorphism	-
Q8N5U6	RNF10_HUMAN	332	L	F	Polymorphism	-
Q8N5U6	RNF10_HUMAN	433	E	D	Polymorphism	-
Q8N5V2	NGEF_HUMAN	78	R	G	Polymorphism	-
Q8N5V2	NGEF_HUMAN	111	M	T	Polymorphism	-
Q8N5W8	FA24B_HUMAN	2	P	L	Polymorphism	-
Q8N5Y2	MS3L1_HUMAN	2	S	T	Polymorphism	-
Q8N5Y2	MS3L1_HUMAN	199	K	Q	Polymorphism	-
Q8N5Y8	PAR16_HUMAN	280	S	P	Polymorphism	-
Q8N5Z0	AADAT_HUMAN	243	V	I	Polymorphism	-
Q8N5Z5	KCD17_HUMAN	145	R	H	Disease	Dystonia 26, myoclonic (DYT26) [MIM:616398]
Q8N5Z5	KCD17_HUMAN	51	R	G	Polymorphism	-
Q8N608	DPP10_HUMAN	517	S	N	Polymorphism	-
Q8N608	DPP10_HUMAN	340	A	P	Polymorphism	-
Q8N608	DPP10_HUMAN	401	V	I	Polymorphism	-
Q8N612	F16A2_HUMAN	754	Q	H	Polymorphism	-
Q8N612	F16A2_HUMAN	462	R	W	Polymorphism	-
Q8N612	F16A2_HUMAN	619	R	L	Polymorphism	-
Q8N612	F16A2_HUMAN	491	T	M	Polymorphism	-
Q8N614	TM156_HUMAN	105	S	P	Polymorphism	-
Q8N614	TM156_HUMAN	48	Y	C	Polymorphism	-
Q8N614	TM156_HUMAN	212	M	T	Polymorphism	-
Q8N628	OR2C3_HUMAN	129	R	S	Polymorphism	-
Q8N628	OR2C3_HUMAN	68	P	S	Polymorphism	-
Q8N628	OR2C3_HUMAN	20	T	A	Polymorphism	-
Q8N628	OR2C3_HUMAN	289	L	V	Polymorphism	-
Q8N635	MEIOB_HUMAN	75	K	T	Polymorphism	-
Q8N635	MEIOB_HUMAN	261	I	T	Polymorphism	-
Q8N635	MEIOB_HUMAN	64	N	I	Disease	Spermatogenic failure 22 (SPGF22) [MIM:617706]
Q8N635	MEIOB_HUMAN	18	T	P	Polymorphism	-
Q8N653	LZTR1_HUMAN	392	A	V	Unclassified	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	294	R	L	Unclassified	Noonan syndrome 10 (NS10) [MIM:616564]
Q8N653	LZTR1_HUMAN	701	P	H	Disease	Noonan syndrome 2 (NS2) [MIM:605275]
Q8N653	LZTR1_HUMAN	697	R	Q	Disease	Noonan syndrome 2 (NS2) [MIM:605275]
Q8N653	LZTR1_HUMAN	812	L	P	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	654	D	G	Unclassified	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	554	A	P	Unclassified	Noonan syndrome 10 (NS10) [MIM:616564]
Q8N653	LZTR1_HUMAN	528	L	R	Unclassified	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	248	G	R	Disease	Noonan syndrome 10 (NS10) [MIM:616564]
Q8N653	LZTR1_HUMAN	187	L	R	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	217	E	A	Unclassified	Noonan syndrome 2 (NS2) [MIM:605275]
Q8N653	LZTR1_HUMAN	170	R	W	Disease	Noonan syndrome 2 (NS2) [MIM:605275]
Q8N653	LZTR1_HUMAN	755	R	Q	Unclassified	Noonan syndrome 2 (NS2) [MIM:605275]
Q8N653	LZTR1_HUMAN	465	A	E	Unclassified	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	810	R	W	Disease	Glioma (GLM) [MIM:137800]
Q8N653	LZTR1_HUMAN	539	G	C	Unclassified	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	248	G	R	Disease	Glioma (GLM) [MIM:137800]
Q8N653	LZTR1_HUMAN	400	M	R	Unclassified	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	760	C	R	Unclassified	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	121	H	D	Unclassified	Noonan syndrome 2 (NS2) [MIM:605275]
Q8N653	LZTR1_HUMAN	466	R	Q	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	119	Y	C	Disease	Noonan syndrome 10 (NS10) [MIM:616564]
Q8N653	LZTR1_HUMAN	688	R	G	Unclassified	Noonan syndrome 2 (NS2) [MIM:605275]
Q8N653	LZTR1_HUMAN	286	G	R	Unclassified	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	647	I	V	Polymorphism	-
Q8N653	LZTR1_HUMAN	170	R	Q	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	284	R	C	Disease	Noonan syndrome 10 (NS10) [MIM:616564]
Q8N653	LZTR1_HUMAN	247	S	N	Disease	Noonan syndrome 10 (NS10) [MIM:616564]
Q8N653	LZTR1_HUMAN	105	W	R	Disease	Glioma (GLM) [MIM:137800]
Q8N653	LZTR1_HUMAN	563	E	Q	Unclassified	Noonan syndrome 2 (NS2) [MIM:605275]
Q8N653	LZTR1_HUMAN	198	R	G	Disease	Glioma (GLM) [MIM:137800]
Q8N653	LZTR1_HUMAN	821	I	T	Unclassified	Noonan syndrome 2 (NS2) [MIM:605275]
Q8N653	LZTR1_HUMAN	287	H	Y	Disease	Noonan syndrome 10 (NS10) [MIM:616564]
Q8N653	LZTR1_HUMAN	288	T	I	Disease	Glioma (GLM) [MIM:137800]
Q8N653	LZTR1_HUMAN	205	I	T	Unclassified	Noonan syndrome 2 (NS2) [MIM:605275]
Q8N653	LZTR1_HUMAN	202	M	R	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	688	R	C	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	143	N	S	Unclassified	Noonan syndrome 10 (NS10) [MIM:616564]
Q8N653	LZTR1_HUMAN	697	R	W	Unclassified	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	456	V	G	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	668	D	Y	Unclassified	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	813	S	I	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	71	H	R	Unclassified	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	447	F	L	Polymorphism	-
Q8N653	LZTR1_HUMAN	404	G	R	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	284	R	C	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	520	P	L	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	122	S	L	Disease	Schwannomatosis 2 (SWNTS2) [MIM:615670]
Q8N653	LZTR1_HUMAN	283	R	Q	Disease	Noonan syndrome 10 (NS10) [MIM:616564]
Q8N660	NBPFF_HUMAN	615	P	Q	Polymorphism	-
Q8N661	TM86B_HUMAN	199	H	R	Polymorphism	-
Q8N661	TM86B_HUMAN	176	A	T	Polymorphism	-
Q8N687	DB125_HUMAN	62	H	Y	Polymorphism	-
Q8N693	ESX1_HUMAN	314	T	P	Polymorphism	-
Q8N695	SC5A8_HUMAN	193	V	I	Polymorphism	-
Q8N695	SC5A8_HUMAN	251	F	V	Polymorphism	-
Q8N697	S15A4_HUMAN	239	V	A	Polymorphism	-
Q8N699	MYCT1_HUMAN	119	G	S	Polymorphism	-
Q8N699	MYCT1_HUMAN	127	R	G	Polymorphism	-
Q8N6C5	IGSF1_HUMAN	858	S	F	Disease	Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888]
Q8N6C5	IGSF1_HUMAN	774	E	G	Polymorphism	-
Q8N6C5	IGSF1_HUMAN	942	C	R	Disease	Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888]
Q8N6C5	IGSF1_HUMAN	381	N	H	Polymorphism	-
Q8N6C5	IGSF1_HUMAN	765	S	N	Disease	Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888]
Q8N6C7	PGSF1_HUMAN	73	R	S	Polymorphism	-
Q8N6C7	PGSF1_HUMAN	91	H	Q	Polymorphism	-
Q8N6C8	LIRA3_HUMAN	301	Y	H	Polymorphism	-
Q8N6C8	LIRA3_HUMAN	3	P	S	Polymorphism	-
Q8N6C8	LIRA3_HUMAN	107	L	R	Polymorphism	-
Q8N6D2	RN182_HUMAN	58	P	L	Unclassified	A colorectal cancer sample
Q8N6D2	RN182_HUMAN	43	V	A	Unclassified	A colorectal cancer sample
Q8N6D5	ANR29_HUMAN	95	V	M	Unclassified	A breast cancer sample
Q8N6D5	ANR29_HUMAN	112	G	E	Polymorphism	-
Q8N6F1	CLD19_HUMAN	13	L	F	Polymorphism	-
Q8N6F1	CLD19_HUMAN	90	L	P	Disease	Hypomagnesemia 5, renal, with or without ocular involvement (HOMG5) [MIM:248190]
Q8N6F1	CLD19_HUMAN	57	Q	E	Disease	Hypomagnesemia 5, renal, with or without ocular involvement (HOMG5) [MIM:248190]
Q8N6F1	CLD19_HUMAN	20	G	D	Disease	Hypomagnesemia 5, renal, with or without ocular involvement (HOMG5) [MIM:248190]
Q8N6F8	MET27_HUMAN	171	S	W	Polymorphism	-
Q8N6F8	MET27_HUMAN	107	Q	R	Polymorphism	-
Q8N6G2	TEX26_HUMAN	231	K	N	Polymorphism	-
Q8N6G5	CGAT2_HUMAN	479	P	S	Polymorphism	-
Q8N6G5	CGAT2_HUMAN	215	E	K	Polymorphism	-
Q8N6G6	ATL1_HUMAN	242	S	N	Polymorphism	-
Q8N6H7	ARFG2_HUMAN	339	R	H	Polymorphism	-
Q8N6H7	ARFG2_HUMAN	143	P	R	Polymorphism	-
Q8N6H7	ARFG2_HUMAN	411	S	N	Polymorphism	-
Q8N6H7	ARFG2_HUMAN	406	R	W	Polymorphism	-
Q8N6I1	EID2_HUMAN	60	E	A	Polymorphism	-
Q8N6I1	EID2_HUMAN	6	A	T	Polymorphism	-
Q8N6K7	SAMD3_HUMAN	181	D	N	Polymorphism	-
Q8N6K7	SAMD3_HUMAN	94	E	K	Polymorphism	-
Q8N6L0	KASH5_HUMAN	116	L	P	Polymorphism	-
Q8N6L0	KASH5_HUMAN	129	R	Q	Polymorphism	-
Q8N6L1	KTAP2_HUMAN	4	G	V	Polymorphism	-
Q8N6M0	OTU6B_HUMAN	186	Y	C	Unclassified	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA) [MIM:617452]
Q8N6M0	OTU6B_HUMAN	283	R	Q	Polymorphism	-
Q8N6M6	AMPO_HUMAN	179	V	I	Polymorphism	-
Q8N6M6	AMPO_HUMAN	179	V	A	Polymorphism	-
Q8N6M6	AMPO_HUMAN	386	R	C	Polymorphism	-
Q8N6M6	AMPO_HUMAN	255	R	Q	Polymorphism	-
Q8N6M8	IQCF1_HUMAN	114	R	Q	Polymorphism	-
Q8N6M8	IQCF1_HUMAN	76	Q	K	Polymorphism	-
Q8N6M9	ZFN2A_HUMAN	53	H	L	Polymorphism	-
Q8N6N2	TTC9B_HUMAN	223	L	P	Polymorphism	-
Q8N6N6	NATD1_HUMAN	42	V	I	Polymorphism	-
Q8N6P7	I22R1_HUMAN	209	A	S	Polymorphism	-
Q8N6P7	I22R1_HUMAN	205	V	I	Polymorphism	-
Q8N6P7	I22R1_HUMAN	222	L	P	Polymorphism	-
Q8N6P7	I22R1_HUMAN	518	R	G	Polymorphism	-
Q8N6P7	I22R1_HUMAN	407	M	V	Polymorphism	-
Q8N6P7	I22R1_HUMAN	130	S	P	Polymorphism	-
Q8N6Q3	CD177_HUMAN	323	R	Q	Polymorphism	-
Q8N6Q3	CD177_HUMAN	119	L	F	Polymorphism	-
Q8N6Q3	CD177_HUMAN	3	A	P	Polymorphism	-
Q8N6Q3	CD177_HUMAN	431	G	R	Polymorphism	-
Q8N6Q3	CD177_HUMAN	31	H	L	Polymorphism	-
Q8N6Q3	CD177_HUMAN	348	A	T	Polymorphism	-
Q8N6Q3	CD177_HUMAN	261	G	A	Polymorphism	-
Q8N6Q3	CD177_HUMAN	379	F	S	Polymorphism	-
Q8N6Q3	CD177_HUMAN	251	L	I	Polymorphism	-
Q8N6Q8	MET25_HUMAN	249	Q	K	Polymorphism	-
Q8N6R0	EFNMT_HUMAN	16	Y	C	Polymorphism	-
Q8N6R0	EFNMT_HUMAN	359	M	I	Polymorphism	-
Q8N6R0	EFNMT_HUMAN	544	R	Q	Polymorphism	-
Q8N6R0	EFNMT_HUMAN	105	M	V	Polymorphism	-
Q8N6S4	AN13C_HUMAN	413	T	S	Polymorphism	-
Q8N6T3	ARFG1_HUMAN	184	V	M	Polymorphism	-
Q8N6T7	SIR6_HUMAN	46	S	N	Polymorphism	-
Q8N6W0	CELF5_HUMAN	65	F	L	Polymorphism	-
Q8N6Y0	USBP1_HUMAN	439	M	V	Polymorphism	-
Q8N6Y0	USBP1_HUMAN	525	V	M	Polymorphism	-
Q8N6Y0	USBP1_HUMAN	677	A	V	Polymorphism	-
Q8N6Y1	PCD20_HUMAN	523	V	M	Unclassified	A breast cancer sample
Q8N6Y2	LRC17_HUMAN	95	T	I	Polymorphism	-
Q8N6Y2	LRC17_HUMAN	187	G	A	Polymorphism	-
Q8N6Y2	LRC17_HUMAN	119	K	E	Polymorphism	-
Q8N715	CC185_HUMAN	195	V	A	Polymorphism	-
Q8N715	CC185_HUMAN	329	G	D	Polymorphism	-
Q8N715	CC185_HUMAN	380	R	L	Polymorphism	-
Q8N715	CC185_HUMAN	331	R	W	Polymorphism	-
Q8N720	ZN655_HUMAN	52	E	D	Polymorphism	-
Q8N726	ARF_HUMAN	17	P	S	Polymorphism	-
Q8N726	ARF_HUMAN	106	G	R	Polymorphism	-
Q8N726	ARF_HUMAN	113	P	L	Polymorphism	-
Q8N726	ARF_HUMAN	116	G	D	Polymorphism	-
Q8N729	NPW_HUMAN	149	D	A	Polymorphism	-
Q8N743	KI3L3_HUMAN	149	R	S	Polymorphism	-
Q8N743	KI3L3_HUMAN	152	R	H	Polymorphism	-
Q8N743	KI3L3_HUMAN	324	V	A	Polymorphism	-
Q8N743	KI3L3_HUMAN	168	V	I	Polymorphism	-
Q8N743	KI3L3_HUMAN	348	A	P	Polymorphism	-
Q8N743	KI3L3_HUMAN	324	V	D	Polymorphism	-
Q8N743	KI3L3_HUMAN	56	N	K	Polymorphism	-
Q8N743	KI3L3_HUMAN	321	H	Y	Polymorphism	-
Q8N743	KI3L3_HUMAN	77	R	W	Polymorphism	-
Q8N743	KI3L3_HUMAN	373	E	D	Polymorphism	-
Q8N743	KI3L3_HUMAN	231	G	D	Polymorphism	-
Q8N743	KI3L3_HUMAN	52	R	H	Polymorphism	-
Q8N743	KI3L3_HUMAN	321	H	N	Polymorphism	-
Q8N743	KI3L3_HUMAN	290	N	T	Polymorphism	-
Q8N752	KC1AL_HUMAN	230	K	N	Polymorphism	-
Q8N752	KC1AL_HUMAN	21	R	W	Polymorphism	-
Q8N752	KC1AL_HUMAN	21	R	Q	Unclassified	A colorectal cancer sample
Q8N752	KC1AL_HUMAN	177	E	K	Polymorphism	-
Q8N752	KC1AL_HUMAN	220	P	L	Polymorphism	-
Q8N752	KC1AL_HUMAN	5	S	G	Polymorphism	-
Q8N752	KC1AL_HUMAN	257	A	T	Polymorphism	-
Q8N752	KC1AL_HUMAN	170	R	S	Polymorphism	-
Q8N752	KC1AL_HUMAN	42	D	E	Polymorphism	-
Q8N766	EMC1_HUMAN	868	G	R	Disease	Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875]
Q8N766	EMC1_HUMAN	347	S	N	Polymorphism	-
Q8N766	EMC1_HUMAN	295	L	S	Polymorphism	-
Q8N766	EMC1_HUMAN	82	T	M	Disease	Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875]
Q8N766	EMC1_HUMAN	471	G	R	Unclassified	Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875]
Q8N766	EMC1_HUMAN	345	S	T	Polymorphism	-
Q8N766	EMC1_HUMAN	144	A	T	Unclassified	-
Q8N769	CN178_HUMAN	26	H	Y	Polymorphism	-
Q8N7B1	HORM2_HUMAN	20	V	L	Polymorphism	-
Q8N7B1	HORM2_HUMAN	2	A	T	Polymorphism	-
Q8N7B9	EFCB3_HUMAN	341	G	R	Polymorphism	-
Q8N7B9	EFCB3_HUMAN	364	M	I	Polymorphism	-
Q8N7B9	EFCB3_HUMAN	370	S	A	Polymorphism	-
Q8N7C0	LRC52_HUMAN	209	D	E	Polymorphism	-
Q8N7C7	RN148_HUMAN	221	F	L	Polymorphism	-
Q8N7E2	CBLL2_HUMAN	166	D	E	Polymorphism	-
Q8N7E2	CBLL2_HUMAN	287	S	F	Polymorphism	-
Q8N7J2	AMER2_HUMAN	659	I	M	Polymorphism	-
Q8N7J2	AMER2_HUMAN	457	A	T	Unclassified	A colorectal cancer sample
Q8N7L0	F216B_HUMAN	134	R	C	Polymorphism	-
Q8N7M0	TC1D1_HUMAN	49	E	D	Polymorphism	-
Q8N7M0	TC1D1_HUMAN	143	L	I	Polymorphism	-
Q8N7M2	ZN283_HUMAN	638	C	Y	Polymorphism	-
Q8N7M2	ZN283_HUMAN	314	T	I	Polymorphism	-
Q8N7M2	ZN283_HUMAN	638	C	R	Polymorphism	-
Q8N7M2	ZN283_HUMAN	629	R	H	Polymorphism	-
Q8N7M2	ZN283_HUMAN	646	R	I	Polymorphism	-
Q8N7Q3	ZN676_HUMAN	96	E	K	Polymorphism	-
Q8N7Q3	ZN676_HUMAN	27	G	E	Polymorphism	-
Q8N7Q3	ZN676_HUMAN	292	S	W	Polymorphism	-
Q8N7R1	P1L12_HUMAN	64	Q	E	Polymorphism	-
Q8N7R1	P1L12_HUMAN	188	G	E	Polymorphism	-
Q8N7R1	P1L12_HUMAN	21	P	T	Polymorphism	-
Q8N7S2	DNJ5G_HUMAN	51	H	R	Polymorphism	-
Q8N7S2	DNJ5G_HUMAN	4	V	G	Polymorphism	-
Q8N7U6	EFHB_HUMAN	99	G	V	Polymorphism	-
Q8N7U6	EFHB_HUMAN	331	V	I	Polymorphism	-
Q8N7U6	EFHB_HUMAN	382	T	I	Polymorphism	-
Q8N7U6	EFHB_HUMAN	269	P	S	Polymorphism	-
Q8N7U6	EFHB_HUMAN	663	Q	P	Polymorphism	-
Q8N7U6	EFHB_HUMAN	826	R	W	Polymorphism	-
Q8N7W2	BEND7_HUMAN	313	R	T	Unclassified	A breast cancer sample
Q8N7W2	BEND7_HUMAN	341	N	S	Polymorphism	-
Q8N7X0	ADGB_HUMAN	310	I	T	Polymorphism	-
Q8N7X0	ADGB_HUMAN	1637	T	A	Polymorphism	-
Q8N7X2	STPG3_HUMAN	126	S	G	Polymorphism	-
Q8N7Z5	ANR31_HUMAN	1609	D	E	Polymorphism	-
Q8N7Z5	ANR31_HUMAN	702	D	N	Polymorphism	-
Q8N7Z5	ANR31_HUMAN	1777	R	K	Polymorphism	-
Q8N7Z5	ANR31_HUMAN	758	R	G	Polymorphism	-
Q8N801	STPG4_HUMAN	17	L	M	Polymorphism	-
Q8N801	STPG4_HUMAN	31	Q	R	Polymorphism	-
Q8N807	PDILT_HUMAN	446	D	N	Polymorphism	-
Q8N807	PDILT_HUMAN	475	L	R	Polymorphism	-
Q8N807	PDILT_HUMAN	447	V	I	Polymorphism	-
Q8N807	PDILT_HUMAN	527	R	K	Polymorphism	-
Q8N807	PDILT_HUMAN	529	G	E	Polymorphism	-
Q8N807	PDILT_HUMAN	26	A	T	Polymorphism	-
Q8N807	PDILT_HUMAN	106	E	Q	Unclassified	A colorectal cancer sample
Q8N812	CL076_HUMAN	26	A	T	Unclassified	A colorectal cancer sample
Q8N815	CNTD1_HUMAN	145	T	P	Polymorphism	-
Q8N816	TMM99_HUMAN	95	L	R	Polymorphism	-
Q8N816	TMM99_HUMAN	4	I	M	Polymorphism	-
Q8N816	TMM99_HUMAN	79	Y	H	Polymorphism	-
Q8N823	ZN611_HUMAN	234	N	I	Polymorphism	-
Q8N823	ZN611_HUMAN	252	P	T	Polymorphism	-
Q8N823	ZN611_HUMAN	340	E	G	Polymorphism	-
Q8N823	ZN611_HUMAN	252	P	L	Polymorphism	-
Q8N823	ZN611_HUMAN	252	P	I	Polymorphism	-
Q8N831	TSYL6_HUMAN	116	P	L	Polymorphism	-
Q8N831	TSYL6_HUMAN	109	G	S	Polymorphism	-
Q8N831	TSYL6_HUMAN	246	R	C	Polymorphism	-
Q8N831	TSYL6_HUMAN	60	A	V	Polymorphism	-
Q8N841	TTLL6_HUMAN	664	E	D	Polymorphism	-
Q8N865	CG031_HUMAN	13	E	K	Polymorphism	-
Q8N865	CG031_HUMAN	82	Y	C	Polymorphism	-
Q8N865	CG031_HUMAN	249	A	T	Polymorphism	-
Q8N865	CG031_HUMAN	143	P	Q	Polymorphism	-
Q8N865	CG031_HUMAN	238	P	Q	Polymorphism	-
Q8N865	CG031_HUMAN	158	A	T	Polymorphism	-
Q8N865	CG031_HUMAN	187	T	S	Polymorphism	-
Q8N865	CG031_HUMAN	86	R	C	Polymorphism	-
Q8N865	CG031_HUMAN	518	N	D	Polymorphism	-
Q8N865	CG031_HUMAN	300	H	R	Polymorphism	-
Q8N878	FRMD1_HUMAN	274	R	C	Polymorphism	-
Q8N878	FRMD1_HUMAN	456	Q	E	Polymorphism	-
Q8N883	ZN614_HUMAN	223	H	R	Polymorphism	-
Q8N883	ZN614_HUMAN	415	V	I	Polymorphism	-
Q8N883	ZN614_HUMAN	160	G	E	Polymorphism	-
Q8N883	ZN614_HUMAN	68	T	I	Polymorphism	-
Q8N884	CGAS_HUMAN	35	T	N	Polymorphism	-
Q8N884	CGAS_HUMAN	261	P	H	Polymorphism	-
Q8N895	ZN366_HUMAN	739	A	G	Polymorphism	-
Q8N8A6	DDX51_HUMAN	175	Q	K	Polymorphism	-
Q8N8A6	DDX51_HUMAN	295	Q	R	Polymorphism	-
Q8N8A6	DDX51_HUMAN	41	R	Q	Polymorphism	-
Q8N8A6	DDX51_HUMAN	249	P	L	Polymorphism	-
Q8N8A6	DDX51_HUMAN	322	A	V	Polymorphism	-
Q8N8A6	DDX51_HUMAN	652	Q	K	Polymorphism	-
Q8N8A6	DDX51_HUMAN	134	E	V	Polymorphism	-
Q8N8A6	DDX51_HUMAN	406	Q	K	Polymorphism	-
Q8N8A8	F169B_HUMAN	115	S	P	Polymorphism	-
Q8N8B7	TEANC_HUMAN	163	S	L	Polymorphism	-
Q8N8D7	NKAI3_HUMAN	140	V	I	Polymorphism	-
Q8N8E2	ZN513_HUMAN	339	C	R	Disease	Retinitis pigmentosa 58 (RP58) [MIM:613617]
Q8N8E3	CE112_HUMAN	551	K	E	Polymorphism	-
Q8N8F6	YIPF7_HUMAN	54	A	T	Polymorphism	-
Q8N8G6	CO054_HUMAN	59	T	M	Polymorphism	-
Q8N8G6	CO054_HUMAN	77	E	K	Polymorphism	-
Q8N8I6	CQ055_HUMAN	119	R	C	Polymorphism	-
Q8N8I6	CQ055_HUMAN	50	V	L	Polymorphism	-
Q8N8J6	ZN615_HUMAN	360	T	I	Polymorphism	-
Q8N8J6	ZN615_HUMAN	727	R	K	Polymorphism	-
Q8N8J6	ZN615_HUMAN	129	T	M	Polymorphism	-
Q8N8J7	F241A_HUMAN	46	P	Q	Polymorphism	-
Q8N8M0	NAT16_HUMAN	63	F	S	Polymorphism	-
Q8N8Q3	ENDOV_HUMAN	29	V	I	Polymorphism	-
Q8N8Q3	ENDOV_HUMAN	201	D	N	Polymorphism	-
Q8N8Q3	ENDOV_HUMAN	141	H	Y	Polymorphism	-
Q8N8Q3	ENDOV_HUMAN	114	K	R	Polymorphism	-
Q8N8Q3	ENDOV_HUMAN	112	R	Q	Polymorphism	-
Q8N8R7	AL14E_HUMAN	180	T	P	Polymorphism	-
Q8N8U3	RTL3_HUMAN	117	P	S	Polymorphism	-
Q8N8U9	BMPER_HUMAN	370	P	L	Disease	Diaphanospondylodysostosis (DSD) [MIM:608022]
Q8N8U9	BMPER_HUMAN	555	R	W	Polymorphism	-
Q8N8V2	GBP7_HUMAN	618	G	R	Polymorphism	-
Q8N8V2	GBP7_HUMAN	14	T	I	Polymorphism	-
Q8N8V8	TM105_HUMAN	122	R	W	Polymorphism	-
Q8N8W4	PLPL1_HUMAN	423	P	H	Polymorphism	-
Q8N8W4	PLPL1_HUMAN	59	A	V	Disease	Ichthyosis, congenital, autosomal recessive 10 (ARCI10) [MIM:615024]
Q8N8W4	PLPL1_HUMAN	490	T	M	Polymorphism	-
Q8N8W4	PLPL1_HUMAN	522	S	P	Polymorphism	-
Q8N8Y2	VA0D2_HUMAN	272	G	R	Polymorphism	-
Q8N8Y2	VA0D2_HUMAN	295	E	K	Polymorphism	-
Q8N910	CO056_HUMAN	160	I	T	Polymorphism	-
Q8N910	CO056_HUMAN	151	P	R	Polymorphism	-
Q8N910	CO056_HUMAN	119	P	S	Polymorphism	-
Q8N944	AMER3_HUMAN	340	S	P	Polymorphism	-
Q8N945	PRLD2_HUMAN	99	N	S	Polymorphism	-
Q8N957	ANKF1_HUMAN	445	V	I	Polymorphism	-
Q8N960	CE120_HUMAN	549	A	V	Unclassified	Joubert syndrome 31 (JBTS31) [MIM:617761]
Q8N960	CE120_HUMAN	712	L	F	Unclassified	Joubert syndrome 31 (JBTS31) [MIM:617761]
Q8N960	CE120_HUMAN	194	V	A	Unclassified	Joubert syndrome 31 (JBTS31) [MIM:617761]
Q8N960	CE120_HUMAN	879	Q	H	Polymorphism	-
Q8N960	CE120_HUMAN	936	V	I	Polymorphism	-
Q8N960	CE120_HUMAN	602	L	V	Polymorphism	-
Q8N960	CE120_HUMAN	975	I	S	Unclassified	-
Q8N960	CE120_HUMAN	726	L	P	Unclassified	Joubert syndrome 31 (JBTS31) [MIM:617761]
Q8N960	CE120_HUMAN	947	R	H	Polymorphism	-
Q8N960	CE120_HUMAN	199	A	P	Disease	Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) [MIM:616300]
Q8N961	ABTB2_HUMAN	918	T	A	Polymorphism	-
Q8N961	ABTB2_HUMAN	250	H	Q	Polymorphism	-
Q8N967	LRTM2_HUMAN	161	D	N	Polymorphism	-
Q8N999	CL029_HUMAN	23	P	L	Polymorphism	-
Q8N999	CL029_HUMAN	238	V	L	Polymorphism	-
Q8N9B4	ANR42_HUMAN	198	N	D	Polymorphism	-
Q8N9B5	JMY_HUMAN	364	M	L	Polymorphism	-
Q8N9B5	JMY_HUMAN	720	H	R	Polymorphism	-
Q8N9B5	JMY_HUMAN	592	A	V	Polymorphism	-
Q8N9C0	IGS22_HUMAN	94	A	P	Polymorphism	-
Q8N9C0	IGS22_HUMAN	7	R	W	Polymorphism	-
Q8N9C0	IGS22_HUMAN	677	L	F	Polymorphism	-
Q8N9C0	IGS22_HUMAN	559	M	V	Polymorphism	-
Q8N9C0	IGS22_HUMAN	414	V	I	Polymorphism	-
Q8N9C0	IGS22_HUMAN	503	S	I	Polymorphism	-
Q8N9C0	IGS22_HUMAN	130	L	R	Polymorphism	-
Q8N9C0	IGS22_HUMAN	472	R	Q	Polymorphism	-
Q8N9E0	F133A_HUMAN	67	E	K	Polymorphism	-
Q8N9F8	ZN454_HUMAN	166	D	A	Polymorphism	-
Q8N9F8	ZN454_HUMAN	152	C	Y	Polymorphism	-
Q8N9H6	CH031_HUMAN	39	L	P	Polymorphism	-
Q8N9H8	MUT7_HUMAN	20	R	Q	Polymorphism	-
Q8N9H8	MUT7_HUMAN	220	R	Q	Polymorphism	-
Q8N9H9	CA127_HUMAN	530	A	V	Polymorphism	-
Q8N9H9	CA127_HUMAN	256	R	Q	Polymorphism	-
Q8N9H9	CA127_HUMAN	366	V	D	Polymorphism	-
Q8N9I0	SYT2_HUMAN	308	P	L	Disease	Myasthenic syndrome, congenital, 7, presynaptic (CMS7) [MIM:616040]
Q8N9I0	SYT2_HUMAN	307	D	A	Disease	Myasthenic syndrome, congenital, 7, presynaptic (CMS7) [MIM:616040]
Q8N9K5	ZN565_HUMAN	228	I	T	Polymorphism	-
Q8N9L9	ACOT4_HUMAN	187	A	D	Polymorphism	-
Q8N9L9	ACOT4_HUMAN	57	R	C	Polymorphism	-
Q8N9M5	TM102_HUMAN	110	A	V	Polymorphism	-
Q8N9N2	ASCC1_HUMAN	34	D	N	Polymorphism	-
Q8N9N2	ASCC1_HUMAN	318	N	S	Polymorphism	-
Q8N9N8	EIF1A_HUMAN	23	D	N	Polymorphism	-
Q8N9N8	EIF1A_HUMAN	159	S	N	Polymorphism	-
Q8N9P6	CI163_HUMAN	5	L	P	Polymorphism	-
Q8N9R6	CDRT4_HUMAN	73	V	I	Polymorphism	-
Q8N9R6	CDRT4_HUMAN	122	H	Q	Polymorphism	-
Q8N9R8	SCAI_HUMAN	37	A	T	Polymorphism	-
Q8N9S9	SNX31_HUMAN	428	D	G	Polymorphism	-
Q8N9S9	SNX31_HUMAN	73	D	H	Polymorphism	-
Q8N9S9	SNX31_HUMAN	309	Q	R	Polymorphism	-
Q8N9T8	KRI1_HUMAN	179	E	A	Polymorphism	-
Q8N9T8	KRI1_HUMAN	309	S	L	Polymorphism	-
Q8N9T8	KRI1_HUMAN	445	L	P	Polymorphism	-
Q8N9T8	KRI1_HUMAN	349	E	Q	Polymorphism	-
Q8N9T8	KRI1_HUMAN	138	G	R	Polymorphism	-
Q8N9T8	KRI1_HUMAN	266	E	K	Polymorphism	-
Q8N9T8	KRI1_HUMAN	336	R	W	Polymorphism	-
Q8N9T8	KRI1_HUMAN	703	S	P	Polymorphism	-
Q8N9U0	TAC2N_HUMAN	151	K	T	Polymorphism	-
Q8N9U0	TAC2N_HUMAN	172	S	N	Polymorphism	-
Q8N9V2	TRIML_HUMAN	132	E	K	Polymorphism	-
Q8N9V2	TRIML_HUMAN	21	D	H	Unclassified	A breast cancer sample
Q8N9V3	WSDU1_HUMAN	320	R	S	Polymorphism	-
Q8N9V3	WSDU1_HUMAN	223	H	D	Polymorphism	-
Q8N9V3	WSDU1_HUMAN	215	K	T	Polymorphism	-
Q8N9V6	ANR53_HUMAN	153	L	I	Polymorphism	-
Q8N9V6	ANR53_HUMAN	105	A	G	Polymorphism	-
Q8N9V6	ANR53_HUMAN	243	M	T	Polymorphism	-
Q8N9V6	ANR53_HUMAN	431	H	L	Polymorphism	-
Q8N9V6	ANR53_HUMAN	349	R	L	Polymorphism	-
Q8N9V7	TOPZ1_HUMAN	796	K	E	Polymorphism	-
Q8N9V7	TOPZ1_HUMAN	673	P	A	Polymorphism	-
Q8N9V7	TOPZ1_HUMAN	196	V	I	Polymorphism	-
Q8N9V7	TOPZ1_HUMAN	88	P	Q	Polymorphism	-
Q8N9V7	TOPZ1_HUMAN	483	Q	R	Polymorphism	-
Q8N9V7	TOPZ1_HUMAN	43	C	R	Polymorphism	-
Q8N9V7	TOPZ1_HUMAN	1352	Q	R	Polymorphism	-
Q8N9W4	GG6L2_HUMAN	54	N	H	Polymorphism	-
Q8N9W4	GG6L2_HUMAN	235	R	P	Polymorphism	-
Q8N9W4	GG6L2_HUMAN	64	E	G	Polymorphism	-
Q8N9W4	GG6L2_HUMAN	191	W	R	Polymorphism	-
Q8N9W4	GG6L2_HUMAN	43	R	G	Polymorphism	-
Q8N9W5	DAAF3_HUMAN	331	G	W	Polymorphism	-
Q8N9W5	DAAF3_HUMAN	365	N	D	Polymorphism	-
Q8N9W5	DAAF3_HUMAN	61	L	P	Disease	Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763]
Q8N9W5	DAAF3_HUMAN	278	A	T	Polymorphism	-
Q8N9W5	DAAF3_HUMAN	292	E	G	Polymorphism	-
Q8N9Y4	F181A_HUMAN	162	L	M	Polymorphism	-
Q8N9Y4	F181A_HUMAN	28	A	T	Polymorphism	-
Q8N9Z0	ZN610_HUMAN	131	A	S	Polymorphism	-
Q8N9Z0	ZN610_HUMAN	216	R	P	Polymorphism	-
Q8N9Z0	ZN610_HUMAN	104	V	M	Polymorphism	-
Q8N9Z0	ZN610_HUMAN	298	R	I	Polymorphism	-
Q8N9Z9	LMTD1_HUMAN	366	T	S	Polymorphism	-
Q8N9Z9	LMTD1_HUMAN	289	T	A	Polymorphism	-
Q8N9Z9	LMTD1_HUMAN	264	A	T	Polymorphism	-
Q8N9Z9	LMTD1_HUMAN	290	A	T	Polymorphism	-
Q8N9Z9	LMTD1_HUMAN	267	E	G	Polymorphism	-
Q8NA03	FSIP1_HUMAN	528	G	A	Polymorphism	-
Q8NA03	FSIP1_HUMAN	354	R	H	Polymorphism	-
Q8NA03	FSIP1_HUMAN	411	L	F	Polymorphism	-
Q8NA03	FSIP1_HUMAN	64	N	D	Polymorphism	-
Q8NA03	FSIP1_HUMAN	402	C	R	Polymorphism	-
Q8NA03	FSIP1_HUMAN	374	E	G	Polymorphism	-
Q8NA19	LMBL4_HUMAN	618	G	D	Polymorphism	-
Q8NA19	LMBL4_HUMAN	489	G	S	Polymorphism	-
Q8NA23	WDR31_HUMAN	113	P	S	Polymorphism	-
Q8NA29	NLS1_HUMAN	172	T	M	Disease	Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]
Q8NA29	NLS1_HUMAN	352	S	L	Disease	Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]
Q8NA29	NLS1_HUMAN	179	S	L	Disease	Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]
Q8NA47	CCD63_HUMAN	212	L	S	Polymorphism	-
Q8NA54	IQUB_HUMAN	735	R	H	Unclassified	A colorectal cancer sample
Q8NA54	IQUB_HUMAN	735	R	P	Polymorphism	-
Q8NA54	IQUB_HUMAN	126	V	M	Polymorphism	-
Q8NA54	IQUB_HUMAN	691	D	N	Polymorphism	-
Q8NA56	TTC29_HUMAN	140	H	Y	Polymorphism	-
Q8NA56	TTC29_HUMAN	276	A	T	Polymorphism	-
Q8NA56	TTC29_HUMAN	94	L	P	Polymorphism	-
Q8NA57	CL050_HUMAN	322	R	H	Polymorphism	-
Q8NA57	CL050_HUMAN	306	Q	R	Polymorphism	-
Q8NA61	SPERT_HUMAN	329	K	E	Polymorphism	-
Q8NA66	CNBD1_HUMAN	64	D	N	Polymorphism	-
Q8NA66	CNBD1_HUMAN	69	Q	K	Polymorphism	-
Q8NA66	CNBD1_HUMAN	257	M	V	Polymorphism	-
Q8NA69	TEX45_HUMAN	434	Y	N	Polymorphism	-
Q8NA69	TEX45_HUMAN	500	L	P	Polymorphism	-
Q8NA69	TEX45_HUMAN	497	P	S	Polymorphism	-
Q8NA69	TEX45_HUMAN	256	D	G	Polymorphism	-
Q8NA69	TEX45_HUMAN	396	Y	N	Polymorphism	-
Q8NA72	POC5_HUMAN	446	A	T	Polymorphism	-
Q8NA72	POC5_HUMAN	36	H	R	Polymorphism	-
Q8NA72	POC5_HUMAN	85	I	T	Polymorphism	-
Q8NA82	MARHA_HUMAN	319	F	S	Polymorphism	-
Q8NA82	MARHA_HUMAN	241	G	E	Polymorphism	-
Q8NA82	MARHA_HUMAN	742	E	K	Polymorphism	-
Q8NA92	THAP8_HUMAN	112	K	R	Polymorphism	-
Q8NA92	THAP8_HUMAN	157	P	S	Polymorphism	-
Q8NA92	THAP8_HUMAN	189	R	W	Polymorphism	-
Q8NA92	THAP8_HUMAN	185	R	Q	Polymorphism	-
Q8NA92	THAP8_HUMAN	70	R	H	Polymorphism	-
Q8NAA4	A16L2_HUMAN	220	R	W	Polymorphism	-
Q8NAA6	CO053_HUMAN	39	A	V	Polymorphism	-
Q8NAA6	CO053_HUMAN	3	L	V	Polymorphism	-
Q8NAB2	KBTB3_HUMAN	193	M	V	Polymorphism	-
Q8NAC3	I17RC_HUMAN	182	S	L	Polymorphism	-
Q8NAE3	CA180_HUMAN	96	F	V	Polymorphism	-
Q8NAF0	ZN579_HUMAN	353	E	D	Polymorphism	-
Q8NAG6	ANKL1_HUMAN	435	Q	R	Polymorphism	-
Q8NAG6	ANKL1_HUMAN	160	P	S	Polymorphism	-
Q8NAG6	ANKL1_HUMAN	447	V	M	Polymorphism	-
Q8NAG6	ANKL1_HUMAN	184	L	W	Polymorphism	-
Q8NAG6	ANKL1_HUMAN	311	T	P	Polymorphism	-
Q8NAG6	ANKL1_HUMAN	31	A	T	Polymorphism	-
Q8NAG6	ANKL1_HUMAN	71	A	V	Polymorphism	-
Q8NAG6	ANKL1_HUMAN	94	L	Q	Polymorphism	-
Q8NAM6	ZSCA4_HUMAN	387	E	K	Polymorphism	-
Q8NAP3	ZBT38_HUMAN	809	A	T	Polymorphism	-
Q8NAP3	ZBT38_HUMAN	615	T	M	Polymorphism	-
Q8NAP3	ZBT38_HUMAN	1067	V	I	Unclassified	-
Q8NAP3	ZBT38_HUMAN	319	S	A	Polymorphism	-
Q8NAP8	ZBT8B_HUMAN	181	E	K	Unclassified	A colorectal cancer sample
Q8NAT1	PMGT2_HUMAN	253	P	L	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C8 (MDDGC8) [MIM:618135]
Q8NAT1	PMGT2_HUMAN	165	M	T	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C8 (MDDGC8) [MIM:618135]
Q8NAT1	PMGT2_HUMAN	158	R	H	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 (MDDGA8) [MIM:614830]
Q8NAT2	TDRD5_HUMAN	722	E	K	Polymorphism	-
Q8NAT2	TDRD5_HUMAN	239	F	V	Polymorphism	-
Q8NAT2	TDRD5_HUMAN	104	M	T	Polymorphism	-
Q8NAT2	TDRD5_HUMAN	358	K	E	Polymorphism	-
Q8NAX2	KDF1_HUMAN	100	Q	R	Polymorphism	-
Q8NAX2	KDF1_HUMAN	107	R	W	Polymorphism	-
Q8NAX2	KDF1_HUMAN	189	K	R	Polymorphism	-
Q8NAX2	KDF1_HUMAN	251	F	L	Unclassified	Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12) [MIM:617337]
Q8NAX2	KDF1_HUMAN	312	R	H	Unclassified	A colorectal cancer sample
Q8NB12	SMYD1_HUMAN	164	Q	P	Polymorphism	-
Q8NB16	MLKL_HUMAN	52	S	T	Polymorphism	-
Q8NB16	MLKL_HUMAN	291	L	P	Unclassified	A gastric adenocarcinoma sample
Q8NB16	MLKL_HUMAN	100	D	E	Polymorphism	-
Q8NB16	MLKL_HUMAN	146	R	Q	Polymorphism	-
Q8NB16	MLKL_HUMAN	364	T	M	Polymorphism	-
Q8NB16	MLKL_HUMAN	169	M	L	Polymorphism	-
Q8NB16	MLKL_HUMAN	132	S	P	Polymorphism	-
Q8NB16	MLKL_HUMAN	398	F	I	Unclassified	A gastric adenocarcinoma sample
Q8NB16	MLKL_HUMAN	421	R	H	Polymorphism	-
Q8NB25	F184A_HUMAN	599	D	N	Polymorphism	-
Q8NB25	F184A_HUMAN	174	Q	H	Polymorphism	-
Q8NB25	F184A_HUMAN	177	V	G	Polymorphism	-
Q8NB49	AT11C_HUMAN	972	V	M	Polymorphism	-
Q8NB49	AT11C_HUMAN	931	Q	P	Unclassified	A colorectal cancer sample
Q8NB49	AT11C_HUMAN	114	C	W	Polymorphism	-
Q8NB49	AT11C_HUMAN	418	T	N	Disease	Hemolytic anemia, congenital, X-linked (HAXL) [MIM:301015]
Q8NB49	AT11C_HUMAN	157	T	I	Unclassified	A colorectal cancer sample
Q8NB49	AT11C_HUMAN	522	Y	C	Polymorphism	-
Q8NB50	ZFP62_HUMAN	34	M	I	Polymorphism	-
Q8NB50	ZFP62_HUMAN	698	R	K	Polymorphism	-
Q8NB59	SYT14_HUMAN	138	G	E	Polymorphism	-
Q8NB59	SYT14_HUMAN	439	G	D	Disease	Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) [MIM:614229]
Q8NB66	UN13C_HUMAN	942	S	L	Polymorphism	-
Q8NB66	UN13C_HUMAN	2196	V	A	Polymorphism	-
Q8NB66	UN13C_HUMAN	304	D	E	Polymorphism	-
Q8NB66	UN13C_HUMAN	609	G	S	Polymorphism	-
Q8NB90	AFG2H_HUMAN	628	D	G	Disease	Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
Q8NB90	AFG2H_HUMAN	27	C	S	Polymorphism	-
Q8NB90	AFG2H_HUMAN	90	S	I	Disease	Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
Q8NB90	AFG2H_HUMAN	488	V	L	Disease	Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
Q8NB90	AFG2H_HUMAN	673	S	Y	Polymorphism	-
Q8NB90	AFG2H_HUMAN	626	W	C	Disease	Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
Q8NB90	AFG2H_HUMAN	844	A	V	Disease	Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
Q8NB90	AFG2H_HUMAN	100	A	T	Disease	Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
Q8NB90	AFG2H_HUMAN	84	R	Q	Disease	Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
Q8NB90	AFG2H_HUMAN	784	R	Q	Disease	Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
Q8NB90	AFG2H_HUMAN	448	S	L	Disease	Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
Q8NB90	AFG2H_HUMAN	529	R	Q	Disease	Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]
Q8NB91	FANCB_HUMAN	330	I	T	Polymorphism	-
Q8NBB2	STAS1_HUMAN	62	V	A	Polymorphism	-
Q8NBF1	GLIS1_HUMAN	187	A	G	Polymorphism	-
Q8NBF1	GLIS1_HUMAN	110	T	A	Polymorphism	-
Q8NBF1	GLIS1_HUMAN	157	F	L	Polymorphism	-
Q8NBF2	NHLC2_HUMAN	314	V	I	Polymorphism	-
Q8NBF2	NHLC2_HUMAN	148	D	Y	Unclassified	Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) [MIM:618278]
Q8NBF6	AVL9_HUMAN	257	C	S	Polymorphism	-
Q8NBI3	DRAXI_HUMAN	37	L	F	Polymorphism	-
Q8NBI5	S43A3_HUMAN	53	P	L	Polymorphism	-
Q8NBJ4	GOLM1_HUMAN	217	H	R	Polymorphism	-
Q8NBJ5	GT251_HUMAN	151	L	R	Disease	Brain small vessel disease 3 (BSVD3) [MIM:618360]
Q8NBJ5	GT251_HUMAN	154	A	P	Disease	Brain small vessel disease 3 (BSVD3) [MIM:618360]
Q8NBJ5	GT251_HUMAN	377	G	R	Disease	Brain small vessel disease 3 (BSVD3) [MIM:618360]
Q8NBJ7	SUMF2_HUMAN	228	Y	C	Unclassified	-
Q8NBJ7	SUMF2_HUMAN	51	D	E	Polymorphism	-
Q8NBJ9	SIDT2_HUMAN	631	T	M	Polymorphism	-
Q8NBJ9	SIDT2_HUMAN	636	V	I	Polymorphism	-
Q8NBK3	SUMF1_HUMAN	177	A	P	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	247	G	R	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	155	S	P	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	349	R	Q	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	218	C	Y	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	336	C	R	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	259	N	I	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	279	A	V	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	224	R	W	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	348	A	P	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	63	S	N	Polymorphism	-
Q8NBK3	SUMF1_HUMAN	345	R	C	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	179	W	S	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	266	P	L	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	349	R	W	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	263	G	V	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBK3	SUMF1_HUMAN	20	L	F	Disease	Multiple sulfatase deficiency (MSD) [MIM:272200]
Q8NBL1	PGLT1_HUMAN	286	C	Y	Disease	Dowling-Degos disease 4 (DDD4) [MIM:615696]
Q8NBL1	PGLT1_HUMAN	170	G	E	Disease	Dowling-Degos disease 4 (DDD4) [MIM:615696]
Q8NBL1	PGLT1_HUMAN	233	D	E	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 21 (LGMDR21) [MIM:617232]
Q8NBL1	PGLT1_HUMAN	75	K	R	Polymorphism	-
Q8NBL1	PGLT1_HUMAN	229	P	T	Polymorphism	-
Q8NBL3	T178A_HUMAN	107	L	V	Polymorphism	-
Q8NBM8	PCYXL_HUMAN	316	A	T	Polymorphism	-
Q8NBM8	PCYXL_HUMAN	5	A	P	Polymorphism	-
Q8NBM8	PCYXL_HUMAN	390	E	D	Polymorphism	-
Q8NBP5	MFSD9_HUMAN	59	G	A	Unclassified	A breast cancer sample
Q8NBP5	MFSD9_HUMAN	288	I	T	Polymorphism	-
Q8NBP5	MFSD9_HUMAN	376	A	T	Polymorphism	-
Q8NBP5	MFSD9_HUMAN	129	A	S	Polymorphism	-
Q8NBP5	MFSD9_HUMAN	84	V	A	Unclassified	A breast cancer sample
Q8NBP7	PCSK9_HUMAN	515	F	L	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	357	R	H	Disease	Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
Q8NBP7	PCSK9_HUMAN	670	G	E	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	218	R	S	Disease	Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
Q8NBP7	PCSK9_HUMAN	616	P	L	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	417	H	Q	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	668	S	R	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	374	D	H	Disease	Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
Q8NBP7	PCSK9_HUMAN	53	A	V	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	469	R	W	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	394	G	S	Unclassified	-
Q8NBP7	PCSK9_HUMAN	239	A	D	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	174	P	S	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	482	E	Q	Unclassified	-
Q8NBP7	PCSK9_HUMAN	106	G	R	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	253	L	F	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	237	R	W	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	57	E	K	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	216	F	L	Disease	Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
Q8NBP7	PCSK9_HUMAN	522	A	T	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	374	D	Y	Disease	Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
Q8NBP7	PCSK9_HUMAN	425	N	S	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	93	R	C	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	77	T	I	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	443	A	T	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	127	S	R	Disease	Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
Q8NBP7	PCSK9_HUMAN	157	N	K	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	391	H	N	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	129	D	G	Disease	Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
Q8NBP7	PCSK9_HUMAN	619	Q	P	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	474	V	I	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	554	Q	E	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	219	Q	E	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	46	R	L	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	452	G	D	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	482	E	G	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	496	R	W	Disease	Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
Q8NBP7	PCSK9_HUMAN	114	V	A	Polymorphism	-
Q8NBP7	PCSK9_HUMAN	215	R	H	Disease	Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]
Q8NBP7	PCSK9_HUMAN	553	H	R	Polymorphism	-
Q8NBQ7	AQP11_HUMAN	102	G	S	Polymorphism	-
Q8NBR9	CK072_HUMAN	22	P	T	Polymorphism	-
Q8NBS3	S4A11_HUMAN	473	L	R	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	213	S	L	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	327	A	V	Polymorphism	-
Q8NBS3	S4A11_HUMAN	575	V	M	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	209	R	W	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	773	P	L	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	873	L	P	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	824	V	M	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	464	G	D	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	754	T	M	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	282	R	P	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	675	E	A	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	834	G	S	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	565	S	L	Polymorphism	-
Q8NBS3	S4A11_HUMAN	399	E	K	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	386	C	R	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	408	Q	H	Polymorphism	-
Q8NBS3	S4A11_HUMAN	233	R	C	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	708	T	A	Polymorphism	-
Q8NBS3	S4A11_HUMAN	91	M	V	Polymorphism	-
Q8NBS3	S4A11_HUMAN	488	R	K	Disease	Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
Q8NBS3	S4A11_HUMAN	483	M	T	Polymorphism	-
Q8NBS3	S4A11_HUMAN	843	L	P	Disease	Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
Q8NBS3	S4A11_HUMAN	240	W	S	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	394	G	R	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	401	T	K	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	269	A	V	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	742	G	R	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	583	G	D	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	125	R	H	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	489	S	L	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	409	K	N	Polymorphism	-
Q8NBS3	S4A11_HUMAN	833	T	M	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	584	T	K	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	856	M	V	Disease	Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
Q8NBS3	S4A11_HUMAN	434	T	I	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	709	G	E	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	755	R	W	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	526	Y	C	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	418	G	D	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	561	T	M	Polymorphism	-
Q8NBS3	S4A11_HUMAN	804	R	H	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	507	V	I	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	160	A	T	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	848	M	I	Polymorphism	-
Q8NBS3	S4A11_HUMAN	167	E	D	Disease	Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]
Q8NBS3	S4A11_HUMAN	869	R	H	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	143	E	K	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	755	R	Q	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	213	S	P	Disease	Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
Q8NBS3	S4A11_HUMAN	869	R	C	Disease	Corneal endothelial dystrophy (CHED) [MIM:217700]
Q8NBS3	S4A11_HUMAN	150	N	S	Polymorphism	-
Q8NBS3	S4A11_HUMAN	72	N	T	Polymorphism	-
Q8NBT0	POC1A_HUMAN	79	G	S	Polymorphism	-
Q8NBT0	POC1A_HUMAN	348	Q	H	Polymorphism	-
Q8NBT0	POC1A_HUMAN	171	L	P	Disease	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) [MIM:614813]
Q8NBT3	TM145_HUMAN	256	L	M	Polymorphism	-
Q8NBU5	ATAD1_HUMAN	54	Q	H	Unclassified	Hyperekplexia 4 (HKPX4) [MIM:618011]
Q8NBU5	ATAD1_HUMAN	107	V	I	Unclassified	A colorectal cancer sample
Q8NBV4	PLPP7_HUMAN	267	L	V	Polymorphism	-
Q8NBV4	PLPP7_HUMAN	174	T	M	Polymorphism	-
Q8NBV8	SYT8_HUMAN	129	F	I	Polymorphism	-
Q8NBV8	SYT8_HUMAN	120	C	R	Polymorphism	-
Q8NBV8	SYT8_HUMAN	17	H	Q	Polymorphism	-
Q8NBW4	S38A9_HUMAN	182	S	T	Polymorphism	-
Q8NBX0	SCPDL_HUMAN	418	G	R	Polymorphism	-
Q8NC01	CLC1A_HUMAN	26	G	A	Polymorphism	-
Q8NC06	ACBD4_HUMAN	118	P	L	Polymorphism	-
Q8NC06	ACBD4_HUMAN	242	R	G	Polymorphism	-
Q8NC24	RELL2_HUMAN	128	S	P	Polymorphism	-
Q8NC24	RELL2_HUMAN	133	L	I	Polymorphism	-
Q8NC24	RELL2_HUMAN	283	Q	E	Polymorphism	-
Q8NC24	RELL2_HUMAN	196	G	R	Polymorphism	-
Q8NC26	ZN114_HUMAN	99	H	N	Polymorphism	-
Q8NC26	ZN114_HUMAN	207	V	A	Polymorphism	-
Q8NC42	RN149_HUMAN	7	E	K	Unclassified	A breast cancer sample
Q8NC42	RN149_HUMAN	356	D	E	Polymorphism	-
Q8NC42	RN149_HUMAN	9	S	G	Polymorphism	-
Q8NC42	RN149_HUMAN	344	L	F	Polymorphism	-
Q8NC44	RETR2_HUMAN	419	P	Q	Polymorphism	-
Q8NC44	RETR2_HUMAN	374	R	H	Polymorphism	-
Q8NC56	LEMD2_HUMAN	13	L	R	Disease	Cataract 46, juvenile-onset (CTRCT46) [MIM:212500]
Q8NC60	NOA1_HUMAN	450	K	R	Polymorphism	-
Q8NC60	NOA1_HUMAN	153	A	S	Polymorphism	-
Q8NC60	NOA1_HUMAN	579	Q	R	Unclassified	A breast cancer sample
Q8NC67	NETO2_HUMAN	456	S	T	Polymorphism	-
Q8NC74	RB8NL_HUMAN	607	E	K	Polymorphism	-
Q8NC74	RB8NL_HUMAN	637	L	R	Polymorphism	-
Q8NC74	RB8NL_HUMAN	408	A	T	Polymorphism	-
Q8NC74	RB8NL_HUMAN	348	D	N	Polymorphism	-
Q8NC96	NECP1_HUMAN	224	D	N	Polymorphism	-
Q8NCB2	CAMKV_HUMAN	279	E	D	Polymorphism	-
Q8NCB2	CAMKV_HUMAN	40	R	W	Unclassified	A colorectal adenocarcinoma sample
Q8NCB2	CAMKV_HUMAN	491	Y	C	Polymorphism	-
Q8NCB2	CAMKV_HUMAN	274	R	W	Unclassified	A colorectal adenocarcinoma sample
Q8NCB2	CAMKV_HUMAN	60	G	S	Unclassified	An ovarian serous carcinoma sample
Q8NCB2	CAMKV_HUMAN	472	P	L	Polymorphism	-
Q8NCD3	HJURP_HUMAN	199	R	G	Polymorphism	-
Q8NCD3	HJURP_HUMAN	568	E	D	Polymorphism	-
Q8NCD3	HJURP_HUMAN	723	E	G	Polymorphism	-
Q8NCD3	HJURP_HUMAN	76	E	K	Polymorphism	-
Q8NCD3	HJURP_HUMAN	4	T	A	Polymorphism	-
Q8NCD3	HJURP_HUMAN	691	S	F	Polymorphism	-
Q8NCD3	HJURP_HUMAN	548	S	T	Polymorphism	-
Q8NCD3	HJURP_HUMAN	549	S	C	Polymorphism	-
Q8NCD3	HJURP_HUMAN	295	S	C	Polymorphism	-
Q8NCE0	SEN2_HUMAN	309	Y	C	Disease	Pontocerebellar hypoplasia 2B (PCH2B) [MIM:612389]
Q8NCE0	SEN2_HUMAN	126	R	H	Polymorphism	-
Q8NCE0	SEN2_HUMAN	41	R	H	Polymorphism	-
Q8NCE2	MTMRE_HUMAN	462	Y	C	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
Q8NCE2	MTMRE_HUMAN	336	R	Q	Disease	Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
Q8NCF5	NF2IP_HUMAN	33	R	W	Polymorphism	-
Q8NCG5	CHST4_HUMAN	361	H	Q	Polymorphism	-
Q8NCG7	DGLB_HUMAN	664	Q	R	Polymorphism	-
Q8NCH0	CHSTE_HUMAN	213	R	P	Disease	Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776]
Q8NCH0	CHSTE_HUMAN	281	P	L	Disease	Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776]
Q8NCH0	CHSTE_HUMAN	293	Y	C	Disease	Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776]
Q8NCH0	CHSTE_HUMAN	137	L	Q	Disease	Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776]
Q8NCH0	CHSTE_HUMAN	289	C	S	Disease	Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776]
Q8NCH0	CHSTE_HUMAN	135	R	G	Disease	Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776]
Q8NCI6	GLBL3_HUMAN	474	V	M	Polymorphism	-
Q8NCI6	GLBL3_HUMAN	163	R	P	Polymorphism	-
Q8NCK3	ZN485_HUMAN	252	A	T	Polymorphism	-
Q8NCK7	MOT11_HUMAN	443	P	T	Polymorphism	-
Q8NCK7	MOT11_HUMAN	340	G	S	Polymorphism	-
Q8NCK7	MOT11_HUMAN	127	D	G	Polymorphism	-
Q8NCK7	MOT11_HUMAN	113	V	I	Polymorphism	-
Q8NCL4	GALT6_HUMAN	423	V	I	Polymorphism	-
Q8NCL8	TM116_HUMAN	22	C	G	Polymorphism	-
Q8NCL9	APCDL_HUMAN	30	C	R	Polymorphism	-
Q8NCL9	APCDL_HUMAN	83	R	Q	Polymorphism	-
Q8NCL9	APCDL_HUMAN	261	R	C	Polymorphism	-
Q8NCL9	APCDL_HUMAN	80	Y	H	Polymorphism	-
Q8NCM2	KCNH5_HUMAN	745	A	T	Polymorphism	-
Q8NCM2	KCNH5_HUMAN	327	R	H	Unclassified	-
Q8NCM8	DYHC2_HUMAN	587	R	C	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2227	M	V	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2481	R	Q	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	209	F	I	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	789	R	K	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	1288	T	A	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	1442	G	D	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	3680	A	V	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	2205	R	H	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	3909	G	D	Disease	-
Q8NCM8	DYHC2_HUMAN	3976	S	N	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	3015	D	G	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	1228	L	I	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	302	T	P	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	495	K	R	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2871	R	Q	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	1537	Q	R	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	456	R	Q	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	3381	P	L	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	4139	Q	P	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	1240	I	T	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	1423	R	C	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2573	Y	C	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	1221	R	K	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	430	R	C	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2532	R	W	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	304	Q	L	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	2640	I	T	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	3806	R	C	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	341	H	Y	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	1413	K	R	Polymorphism	-
Q8NCM8	DYHC2_HUMAN	1991	M	L	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2461	G	V	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2819	I	M	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2496	P	S	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2362	N	S	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	1991	M	K	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	4232	L	R	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	338	R	G	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	1379	M	V	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2555	V	M	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	3847	W	G	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2662	R	Q	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	3762	L	V	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	1987	T	A	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	2304	A	T	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	330	R	C	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCM8	DYHC2_HUMAN	871	L	P	Disease	Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]
Q8NCN5	PDPR_HUMAN	109	Y	H	Polymorphism	-
Q8NCP5	ZBT44_HUMAN	185	K	E	Polymorphism	-
Q8NCQ5	FBX15_HUMAN	496	Y	H	Polymorphism	-
Q8NCQ7	PRCA1_HUMAN	245	D	A	Polymorphism	-
Q8NCQ7	PRCA1_HUMAN	320	E	K	Polymorphism	-
Q8NCR0	B3GL2_HUMAN	268	V	M	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
Q8NCR0	B3GL2_HUMAN	247	G	E	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
Q8NCR0	B3GL2_HUMAN	252	V	G	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
Q8NCR0	B3GL2_HUMAN	203	N	S	Unclassified	A breast cancer sample
Q8NCR0	B3GL2_HUMAN	292	R	P	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
Q8NCR6	SMRP1_HUMAN	233	P	Q	Polymorphism	-
Q8NCR9	CLRN3_HUMAN	75	F	I	Polymorphism	-
Q8NCR9	CLRN3_HUMAN	22	I	N	Polymorphism	-
Q8NCT1	ARRD4_HUMAN	358	S	P	Polymorphism	-
Q8NCT1	ARRD4_HUMAN	347	P	S	Polymorphism	-
Q8NCT1	ARRD4_HUMAN	79	T	A	Polymorphism	-
Q8NCU4	CC191_HUMAN	374	R	W	Polymorphism	-
Q8NCU4	CC191_HUMAN	696	E	D	Polymorphism	-
Q8NCV1	ADAD2_HUMAN	44	G	E	Polymorphism	-
Q8NCV1	ADAD2_HUMAN	235	G	R	Polymorphism	-
Q8NCW0	KREM2_HUMAN	408	A	P	Polymorphism	-
Q8NCW5	NNRE_HUMAN	218	D	V	Disease	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy (PEBEL) [MIM:617186]
Q8NCW5	NNRE_HUMAN	19	V	L	Polymorphism	-
Q8NCW5	NNRE_HUMAN	94	A	D	Disease	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy (PEBEL) [MIM:617186]
Q8NCW6	GLT11_HUMAN	197	D	Y	Polymorphism	-
Q8NCW6	GLT11_HUMAN	151	P	S	Polymorphism	-
Q8NCX0	CC150_HUMAN	156	E	K	Polymorphism	-
Q8ND04	SMG8_HUMAN	280	P	L	Polymorphism	-
Q8ND07	BBOF1_HUMAN	58	R	Q	Polymorphism	-
Q8ND07	BBOF1_HUMAN	496	K	E	Polymorphism	-
Q8ND07	BBOF1_HUMAN	230	D	V	Polymorphism	-
Q8ND07	BBOF1_HUMAN	183	R	K	Polymorphism	-
Q8ND23	CARL3_HUMAN	1022	L	M	Polymorphism	-
Q8ND30	LIPB2_HUMAN	658	R	G	Polymorphism	-
Q8ND56	LS14A_HUMAN	448	R	Q	Polymorphism	-
Q8ND56	LS14A_HUMAN	238	R	Q	Polymorphism	-
Q8ND61	CC020_HUMAN	42	G	D	Polymorphism	-
Q8ND61	CC020_HUMAN	205	Q	R	Polymorphism	-
Q8ND61	CC020_HUMAN	230	S	Y	Polymorphism	-
Q8ND61	CC020_HUMAN	689	A	V	Polymorphism	-
Q8ND61	CC020_HUMAN	65	D	N	Polymorphism	-
Q8ND61	CC020_HUMAN	298	A	T	Polymorphism	-
Q8ND61	CC020_HUMAN	407	I	V	Polymorphism	-
Q8ND61	CC020_HUMAN	176	A	T	Polymorphism	-
Q8ND61	CC020_HUMAN	422	L	V	Polymorphism	-
Q8ND71	GIMA8_HUMAN	301	I	T	Polymorphism	-
Q8ND90	PNMA1_HUMAN	54	M	V	Polymorphism	-
Q8ND90	PNMA1_HUMAN	215	R	P	Polymorphism	-
Q8NDA8	MROH1_HUMAN	38	A	V	Polymorphism	-
Q8NDB2	BANK1_HUMAN	61	R	H	Polymorphism	-
Q8NDB2	BANK1_HUMAN	383	A	T	Polymorphism	-
Q8NDB2	BANK1_HUMAN	650	C	R	Polymorphism	-
Q8NDD1	CA131_HUMAN	28	L	V	Polymorphism	-
Q8NDH2	CC168_HUMAN	1879	E	A	Polymorphism	-
Q8NDH2	CC168_HUMAN	314	S	P	Polymorphism	-
Q8NDH2	CC168_HUMAN	94	M	V	Polymorphism	-
Q8NDH2	CC168_HUMAN	30	P	S	Polymorphism	-
Q8NDH2	CC168_HUMAN	1287	F	L	Polymorphism	-
Q8NDH2	CC168_HUMAN	1915	K	E	Polymorphism	-
Q8NDH2	CC168_HUMAN	1121	N	S	Polymorphism	-
Q8NDH2	CC168_HUMAN	1015	R	T	Polymorphism	-
Q8NDH2	CC168_HUMAN	382	G	A	Polymorphism	-
Q8NDH2	CC168_HUMAN	264	G	S	Polymorphism	-
Q8NDH2	CC168_HUMAN	1382	L	P	Polymorphism	-
Q8NDH2	CC168_HUMAN	1209	R	Q	Polymorphism	-
Q8NDH2	CC168_HUMAN	347	L	P	Polymorphism	-
Q8NDH2	CC168_HUMAN	1446	R	C	Polymorphism	-
Q8NDH2	CC168_HUMAN	1483	T	M	Polymorphism	-
Q8NDH3	PEPL1_HUMAN	303	K	R	Polymorphism	-
Q8NDH3	PEPL1_HUMAN	513	L	V	Polymorphism	-
Q8NDI1	EHBP1_HUMAN	395	R	T	Unclassified	A breast cancer sample
Q8NDI1	EHBP1_HUMAN	755	K	Q	Polymorphism	-
Q8NDL9	CBPC5_HUMAN	276	R	W	Disease	Retinitis pigmentosa 75 (RP75) [MIM:617023]
Q8NDL9	CBPC5_HUMAN	649	G	D	Polymorphism	-
Q8NDL9	CBPC5_HUMAN	281	R	C	Unclassified	Retinitis pigmentosa 75 (RP75) [MIM:617023]
Q8NDL9	CBPC5_HUMAN	251	V	G	Unclassified	Retinitis pigmentosa 75 (RP75) [MIM:617023]
Q8NDL9	CBPC5_HUMAN	108	P	R	Unclassified	Retinitis pigmentosa 75 (RP75) [MIM:617023]
Q8NDL9	CBPC5_HUMAN	295	D	N	Disease	Retinitis pigmentosa 75 (RP75) [MIM:617023]
Q8NDM7	CFA43_HUMAN	85	R	W	Unclassified	Spermatogenic failure 19 (SPGF19) [MIM:617592]
Q8NDM7	CFA43_HUMAN	616	L	F	Polymorphism	-
Q8NDM7	CFA43_HUMAN	393	I	T	Polymorphism	-
Q8NDM7	CFA43_HUMAN	129	S	Y	Unclassified	Spermatogenic failure 19 (SPGF19) [MIM:617592]
Q8NDM7	CFA43_HUMAN	835	A	S	Polymorphism	-
Q8NDM7	CFA43_HUMAN	347	V	A	Unclassified	Spermatogenic failure 19 (SPGF19) [MIM:617592]
Q8NDM7	CFA43_HUMAN	634	V	I	Polymorphism	-
Q8NDN9	RCBT1_HUMAN	388	L	F	Disease	Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175]
Q8NDN9	RCBT1_HUMAN	325	H	Y	Disease	Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175]
Q8NDN9	RCBT1_HUMAN	307	V	M	Disease	Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175]
Q8NDN9	RCBT1_HUMAN	24	A	V	Polymorphism	-
Q8NDN9	RCBT1_HUMAN	500	T	I	Polymorphism	-
Q8NDN9	RCBT1_HUMAN	384	H	R	Unclassified	Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175]
Q8NDN9	RCBT1_HUMAN	310	W	C	Disease	Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175]
Q8NDN9	RCBT1_HUMAN	401	S	L	Unclassified	Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175]
Q8NDP4	ZN439_HUMAN	427	L	S	Polymorphism	-
Q8NDP4	ZN439_HUMAN	6	P	S	Polymorphism	-
Q8NDQ6	ZN540_HUMAN	275	K	I	Unclassified	A colorectal cancer sample
Q8NDQ6	ZN540_HUMAN	53	D	V	Polymorphism	-
Q8NDQ6	ZN540_HUMAN	340	G	R	Polymorphism	-
Q8NDV1	SIA7C_HUMAN	223	L	I	Polymorphism	-
Q8NDV3	SMC1B_HUMAN	758	R	Q	Polymorphism	-
Q8NDV3	SMC1B_HUMAN	1050	L	M	Polymorphism	-
Q8NDV3	SMC1B_HUMAN	473	F	V	Polymorphism	-
Q8NDV3	SMC1B_HUMAN	1008	S	A	Polymorphism	-
Q8NDV7	TNR6A_HUMAN	788	P	S	Polymorphism	-
Q8NDV7	TNR6A_HUMAN	185	N	K	Polymorphism	-
Q8NDV7	TNR6A_HUMAN	592	A	T	Polymorphism	-
Q8NDV7	TNR6A_HUMAN	1268	E	K	Polymorphism	-
Q8NDW4	ZN248_HUMAN	218	K	E	Polymorphism	-
Q8NDW8	TT21A_HUMAN	1316	R	K	Polymorphism	-
Q8NDW8	TT21A_HUMAN	719	R	H	Polymorphism	-
Q8NDW8	TT21A_HUMAN	622	R	W	Polymorphism	-
Q8NDW8	TT21A_HUMAN	1055	R	L	Polymorphism	-
Q8NDW8	TT21A_HUMAN	719	R	Q	Polymorphism	-
Q8NDW8	TT21A_HUMAN	1160	S	R	Polymorphism	-
Q8NDW8	TT21A_HUMAN	293	E	K	Polymorphism	-
Q8NDW8	TT21A_HUMAN	91	R	Q	Polymorphism	-
Q8NDW8	TT21A_HUMAN	290	R	K	Polymorphism	-
Q8NDW8	TT21A_HUMAN	108	V	L	Polymorphism	-
Q8NDX1	PSD4_HUMAN	658	I	V	Polymorphism	-
Q8NDX1	PSD4_HUMAN	637	R	Q	Polymorphism	-
Q8NDX1	PSD4_HUMAN	83	G	R	Polymorphism	-
Q8NDX1	PSD4_HUMAN	269	G	A	Polymorphism	-
Q8NDX1	PSD4_HUMAN	233	S	P	Polymorphism	-
Q8NDX2	VGLU3_HUMAN	8	T	I	Polymorphism	-
Q8NDX2	VGLU3_HUMAN	220	A	T	Polymorphism	-
Q8NDX2	VGLU3_HUMAN	246	G	E	Polymorphism	-
Q8NDX2	VGLU3_HUMAN	211	A	V	Disease	Deafness, autosomal dominant, 25 (DFNA25) [MIM:605583]
Q8NDX9	LY65B_HUMAN	176	R	C	Polymorphism	-
Q8NDX9	LY65B_HUMAN	102	D	N	Polymorphism	-
Q8NDX9	LY65B_HUMAN	131	S	Y	Polymorphism	-
Q8NDY3	ARHL1_HUMAN	7	A	V	Polymorphism	-
Q8NDY8	TMM52_HUMAN	141	M	T	Polymorphism	-
Q8NDY8	TMM52_HUMAN	141	M	V	Polymorphism	-
Q8NDZ0	BEND2_HUMAN	188	S	F	Polymorphism	-
Q8NDZ0	BEND2_HUMAN	154	F	L	Polymorphism	-
Q8NDZ2	SIMC1_HUMAN	463	K	R	Polymorphism	-
Q8NDZ2	SIMC1_HUMAN	636	S	F	Polymorphism	-
Q8NDZ2	SIMC1_HUMAN	221	S	F	Polymorphism	-
Q8NDZ2	SIMC1_HUMAN	772	H	R	Polymorphism	-
Q8NE00	TM104_HUMAN	58	V	M	Polymorphism	-
Q8NE00	TM104_HUMAN	439	A	T	Polymorphism	-
Q8NE09	RGS22_HUMAN	397	R	M	Polymorphism	-
Q8NE09	RGS22_HUMAN	943	H	Y	Polymorphism	-
Q8NE18	NSUN7_HUMAN	622	T	A	Polymorphism	-
Q8NE18	NSUN7_HUMAN	308	S	A	Polymorphism	-
Q8NE22	SETD9_HUMAN	209	K	E	Polymorphism	-
Q8NE22	SETD9_HUMAN	76	S	T	Polymorphism	-
Q8NE28	STKL1_HUMAN	473	E	K	Polymorphism	-
Q8NE28	STKL1_HUMAN	139	G	D	Unclassified	A glioblastoma multiforme sample
Q8NE28	STKL1_HUMAN	568	R	Q	Polymorphism	-
Q8NE31	FA13C_HUMAN	82	P	H	Polymorphism	-
Q8NE35	CPEB3_HUMAN	324	R	W	Polymorphism	-
Q8NE62	CHDH_HUMAN	441	N	S	Polymorphism	-
Q8NE62	CHDH_HUMAN	78	L	R	Polymorphism	-
Q8NE62	CHDH_HUMAN	40	E	A	Polymorphism	-
Q8NE63	HIPK4_HUMAN	481	R	C	Polymorphism	-
Q8NE63	HIPK4_HUMAN	406	S	R	Polymorphism	-
Q8NE63	HIPK4_HUMAN	106	A	T	Polymorphism	-
Q8NE63	HIPK4_HUMAN	171	V	M	Polymorphism	-
Q8NE63	HIPK4_HUMAN	381	T	M	Polymorphism	-
Q8NE63	HIPK4_HUMAN	421	G	S	Polymorphism	-
Q8NE63	HIPK4_HUMAN	386	A	T	Polymorphism	-
Q8NE63	HIPK4_HUMAN	302	R	Q	Polymorphism	-
Q8NE71	ABCF1_HUMAN	198	N	D	Polymorphism	-
Q8NE79	POPD1_HUMAN	129	R	W	Polymorphism	-
Q8NE79	POPD1_HUMAN	201	S	F	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 25 (LGMDR25) [MIM:616812]
Q8NE79	POPD1_HUMAN	127	M	I	Polymorphism	-
Q8NEA4	FBX36_HUMAN	86	L	F	Polymorphism	-
Q8NEA5	CS018_HUMAN	208	H	Y	Polymorphism	-
Q8NEA6	GLIS3_HUMAN	269	S	P	Polymorphism	-
Q8NEA6	GLIS3_HUMAN	578	P	L	Polymorphism	-
Q8NEA6	GLIS3_HUMAN	301	P	Q	Polymorphism	-
Q8NEA9	GMCL2_HUMAN	275	V	A	Unclassified	A colorectal cancer sample
Q8NEB7	ACRBP_HUMAN	336	T	A	Polymorphism	-
Q8NEC5	CTSR1_HUMAN	133	G	S	Polymorphism	-
Q8NEC5	CTSR1_HUMAN	652	V	I	Polymorphism	-
Q8NEC5	CTSR1_HUMAN	730	T	P	Polymorphism	-
Q8NEE6	DRC6_HUMAN	565	Y	C	Polymorphism	-
Q8NEE6	DRC6_HUMAN	535	I	V	Polymorphism	-
Q8NEE6	DRC6_HUMAN	313	G	A	Polymorphism	-
Q8NEE6	DRC6_HUMAN	74	I	M	Polymorphism	-
Q8NEE6	DRC6_HUMAN	692	D	G	Polymorphism	-
Q8NEE8	TTC16_HUMAN	405	M	T	Polymorphism	-
Q8NEE8	TTC16_HUMAN	872	A	S	Polymorphism	-
Q8NEE8	TTC16_HUMAN	809	Y	C	Polymorphism	-
Q8NEE8	TTC16_HUMAN	588	E	G	Polymorphism	-
Q8NEF3	CC112_HUMAN	354	E	G	Polymorphism	-
Q8NEF3	CC112_HUMAN	341	K	N	Polymorphism	-
Q8NEF3	CC112_HUMAN	144	S	N	Polymorphism	-
Q8NEF3	CC112_HUMAN	32	H	L	Polymorphism	-
Q8NEG0	FA71C_HUMAN	30	R	G	Polymorphism	-
Q8NEG0	FA71C_HUMAN	71	M	V	Polymorphism	-
Q8NEG2	CG057_HUMAN	74	A	S	Polymorphism	-
Q8NEG4	FA83F_HUMAN	353	G	S	Polymorphism	-
Q8NEG4	FA83F_HUMAN	245	R	S	Polymorphism	-
Q8NEG4	FA83F_HUMAN	418	A	V	Unclassified	A breast cancer sample
Q8NEG4	FA83F_HUMAN	436	R	G	Polymorphism	-
Q8NEH6	MNS1_HUMAN	244	Y	H	Polymorphism	-
Q8NEH6	MNS1_HUMAN	216	I	T	Polymorphism	-
Q8NEH6	MNS1_HUMAN	426	E	G	Polymorphism	-
Q8NEH6	MNS1_HUMAN	10	C	Y	Polymorphism	-
Q8NEH6	MNS1_HUMAN	55	Q	P	Polymorphism	-
Q8NEJ9	NGDN_HUMAN	15	V	L	Polymorphism	-
Q8NEJ9	NGDN_HUMAN	308	K	I	Polymorphism	-
Q8NEK5	ZN548_HUMAN	73	A	T	Polymorphism	-
Q8NEK5	ZN548_HUMAN	58	A	S	Polymorphism	-
Q8NEK8	TET5D_HUMAN	185	D	E	Polymorphism	-
Q8NEL0	CCD54_HUMAN	38	R	Q	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	392	D	G	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	212	A	T	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	602	L	F	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	171	R	S	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	27	T	R	Disease	Microcephaly 1, primary, autosomal recessive (MCPH1) [MIM:251200]
Q8NEM0	MCPH1_HUMAN	264	I	V	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	682	T	N	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	761	A	V	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	580	S	G	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	288	P	H	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	828	P	S	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	304	R	I	Polymorphism	-
Q8NEM0	MCPH1_HUMAN	314	D	H	Polymorphism	-
Q8NEM1	ZN680_HUMAN	525	N	D	Polymorphism	-
Q8NEM1	ZN680_HUMAN	132	S	F	Polymorphism	-
Q8NEM1	ZN680_HUMAN	330	D	G	Polymorphism	-
Q8NEM2	SHCBP_HUMAN	21	M	T	Polymorphism	-
Q8NEM2	SHCBP_HUMAN	60	M	R	Polymorphism	-
Q8NEM7	SP20H_HUMAN	154	M	V	Polymorphism	-
Q8NEM7	SP20H_HUMAN	773	T	M	Polymorphism	-
Q8NEM8	CBPC3_HUMAN	360	T	I	Polymorphism	-
Q8NEM8	CBPC3_HUMAN	122	E	Q	Polymorphism	-
Q8NEM8	CBPC3_HUMAN	45	F	Y	Polymorphism	-
Q8NEN0	ARMC2_HUMAN	433	N	D	Polymorphism	-
Q8NEN0	ARMC2_HUMAN	166	M	T	Polymorphism	-
Q8NEN9	PDZD8_HUMAN	897	R	Q	Polymorphism	-
Q8NEN9	PDZD8_HUMAN	806	V	A	Polymorphism	-
Q8NEP3	DAAF1_HUMAN	675	S	T	Polymorphism	-
Q8NEP3	DAAF1_HUMAN	432	E	D	Polymorphism	-
Q8NEP3	DAAF1_HUMAN	502	P	L	Polymorphism	-
Q8NEP3	DAAF1_HUMAN	633	L	S	Polymorphism	-
Q8NEP3	DAAF1_HUMAN	712	P	A	Polymorphism	-
Q8NEP3	DAAF1_HUMAN	703	G	R	Polymorphism	-
Q8NEP3	DAAF1_HUMAN	175	L	R	Disease	Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193]
Q8NEP3	DAAF1_HUMAN	659	L	P	Polymorphism	-
Q8NEP3	DAAF1_HUMAN	545	F	C	Polymorphism	-
Q8NEP3	DAAF1_HUMAN	393	K	R	Polymorphism	-
Q8NEP3	DAAF1_HUMAN	387	D	E	Polymorphism	-
Q8NEP3	DAAF1_HUMAN	659	L	V	Polymorphism	-
Q8NEP4	CQ047_HUMAN	461	G	S	Polymorphism	-
Q8NEP4	CQ047_HUMAN	88	P	T	Polymorphism	-
Q8NEP4	CQ047_HUMAN	546	C	G	Polymorphism	-
Q8NEP7	KLDC9_HUMAN	282	A	T	Polymorphism	-
Q8NEP7	KLDC9_HUMAN	288	N	S	Polymorphism	-
Q8NEP7	KLDC9_HUMAN	171	S	R	Polymorphism	-
Q8NEP9	ZN555_HUMAN	194	H	N	Polymorphism	-
Q8NEP9	ZN555_HUMAN	107	N	D	Polymorphism	-
Q8NEP9	ZN555_HUMAN	515	K	T	Polymorphism	-
Q8NEP9	ZN555_HUMAN	137	P	L	Polymorphism	-
Q8NEQ5	CA162_HUMAN	3	G	S	Polymorphism	-
Q8NEQ6	SRARP_HUMAN	100	G	W	Unclassified	A breast cancer sample
Q8NEQ6	SRARP_HUMAN	52	G	W	Unclassified	A breast cancer sample
Q8NEQ6	SRARP_HUMAN	112	L	F	Polymorphism	-
Q8NER1	TRPV1_HUMAN	585	I	V	Polymorphism	-
Q8NER1	TRPV1_HUMAN	469	T	I	Polymorphism	-
Q8NER1	TRPV1_HUMAN	91	P	S	Polymorphism	-
Q8NER1	TRPV1_HUMAN	505	T	A	Polymorphism	-
Q8NER1	TRPV1_HUMAN	315	M	I	Polymorphism	-
Q8NER5	ACV1C_HUMAN	355	I	V	Polymorphism	-
Q8NER5	ACV1C_HUMAN	267	W	R	Unclassified	A lung squamous cell carcinoma sample
Q8NER5	ACV1C_HUMAN	195	I	T	Polymorphism	-
Q8NER5	ACV1C_HUMAN	216	G	R	Polymorphism	-
Q8NER5	ACV1C_HUMAN	482	I	V	Polymorphism	-
Q8NES3	LFNG_HUMAN	38	G	R	Polymorphism	-
Q8NES3	LFNG_HUMAN	188	F	L	Disease	Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813]
Q8NES3	LFNG_HUMAN	346	V	M	Polymorphism	-
Q8NET1	D108B_HUMAN	53	Q	R	Polymorphism	-
Q8NET1	D108B_HUMAN	36	R	W	Polymorphism	-
Q8NET1	D108B_HUMAN	27	I	V	Polymorphism	-
Q8NET1	D108B_HUMAN	45	H	L	Polymorphism	-
Q8NET4	RTL9_HUMAN	777	P	S	Polymorphism	-
Q8NET5	NFAM1_HUMAN	187	N	K	Polymorphism	-
Q8NET5	NFAM1_HUMAN	137	H	Y	Polymorphism	-
Q8NET6	CHSTD_HUMAN	271	A	V	Polymorphism	-
Q8NET6	CHSTD_HUMAN	146	P	S	Polymorphism	-
Q8NET6	CHSTD_HUMAN	317	R	Q	Polymorphism	-
Q8NET8	TRPV3_HUMAN	573	G	C	Disease	Olmsted syndrome (OLMS) [MIM:614594]
Q8NET8	TRPV3_HUMAN	25	I	V	Polymorphism	-
Q8NET8	TRPV3_HUMAN	580	Q	P	Disease	Palmoplantar keratoderma, non-epidermolytic, focal 2 (FNEPPK2) [MIM:616400]
Q8NET8	TRPV3_HUMAN	117	R	G	Polymorphism	-
Q8NET8	TRPV3_HUMAN	573	G	S	Disease	Olmsted syndrome (OLMS) [MIM:614594]
Q8NET8	TRPV3_HUMAN	692	W	G	Disease	Olmsted syndrome (OLMS) [MIM:614594]
Q8NET8	TRPV3_HUMAN	774	T	I	Polymorphism	-
Q8NEU8	DP13B_HUMAN	433	A	V	Polymorphism	-
Q8NEV1	CSK23_HUMAN	133	I	T	Unclassified	A lung carcinoma sample
Q8NEV4	MYO3A_HUMAN	348	I	V	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	833	A	S	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	1137	V	M	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	319	R	H	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	956	S	N	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	1417	T	I	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	369	V	I	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	1195	V	A	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	1045	V	M	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	1313	R	S	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	525	N	K	Unclassified	An ovarian mucinous carcinoma sample
Q8NEV4	MYO3A_HUMAN	1287	P	T	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	956	S	R	Unclassified	An ovarian serous carcinoma sample
Q8NEV4	MYO3A_HUMAN	1284	T	S	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	1032	A	T	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	1347	D	H	Unclassified	A renal clear cell carcinoma sample
Q8NEV4	MYO3A_HUMAN	1488	K	E	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	178	T	I	Polymorphism	-
Q8NEV4	MYO3A_HUMAN	204	D	N	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	892	N	Y	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	1656	E	K	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	899	V	A	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	1311	C	R	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	853	L	P	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	525	V	F	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	328	R	Q	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	1147	M	I	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	777	D	N	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	676	S	N	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	1343	T	A	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	1735	I	F	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	512	M	L	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	1967	N	D	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	19	R	G	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	1240	D	N	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	1236	S	A	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	137	E	V	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	118	R	L	Polymorphism	-
Q8NEV8	EXPH5_HUMAN	1663	G	R	Polymorphism	-
Q8NEV9	IL27A_HUMAN	59	S	A	Polymorphism	-
Q8NEV9	IL27A_HUMAN	119	L	P	Polymorphism	-
Q8NEW7	TMIE_HUMAN	92	R	W	Disease	Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971]
Q8NEW7	TMIE_HUMAN	81	R	C	Disease	Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971]
Q8NEW7	TMIE_HUMAN	84	R	W	Disease	Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971]
Q8NEX5	WFDC9_HUMAN	27	N	T	Polymorphism	-
Q8NEX9	DR9C7_HUMAN	72	R	W	Disease	Ichthyosis, congenital, autosomal recessive 13 (ARCI13) [MIM:617574]
Q8NEX9	DR9C7_HUMAN	200	I	T	Disease	Ichthyosis, congenital, autosomal recessive 13 (ARCI13) [MIM:617574]
Q8NEY1	NAV1_HUMAN	937	Q	H	Polymorphism	-
Q8NEY1	NAV1_HUMAN	1273	S	L	Polymorphism	-
Q8NEY1	NAV1_HUMAN	1527	V	I	Polymorphism	-
Q8NEY1	NAV1_HUMAN	1290	H	D	Polymorphism	-
Q8NEY3	SPAT4_HUMAN	149	Y	C	Polymorphism	-
Q8NEY4	VATC2_HUMAN	143	N	D	Polymorphism	-
Q8NEY8	PPHLN_HUMAN	173	V	M	Unclassified	A breast cancer sample
Q8NEZ2	VP37A_HUMAN	382	K	N	Disease	Spastic paraplegia 53, autosomal recessive (SPG53) [MIM:614898]
Q8NEZ2	VP37A_HUMAN	206	I	F	Polymorphism	-
Q8NEZ2	VP37A_HUMAN	213	I	V	Polymorphism	-
Q8NEZ3	WDR19_HUMAN	710	L	S	Disease	Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
Q8NEZ3	WDR19_HUMAN	710	L	S	Disease	Cranioectodermal dysplasia 4 (CED4) [MIM:614378]
Q8NEZ3	WDR19_HUMAN	109	G	E	Disease	Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
Q8NEZ3	WDR19_HUMAN	7	L	P	Disease	Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5) [MIM:614376]
Q8NEZ3	WDR19_HUMAN	30	A	P	Disease	Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
Q8NEZ3	WDR19_HUMAN	272	R	C	Disease	Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
Q8NEZ3	WDR19_HUMAN	493	D	H	Disease	Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
Q8NEZ3	WDR19_HUMAN	345	V	G	Disease	Nephronophthisis 13 (NPHP13) [MIM:614377]
Q8NEZ3	WDR19_HUMAN	1235	E	K	Disease	Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
Q8NEZ3	WDR19_HUMAN	1084	G	S	Polymorphism	-
Q8NEZ3	WDR19_HUMAN	68	V	D	Disease	Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
Q8NEZ3	WDR19_HUMAN	1178	R	Q	Disease	Senior-Loken syndrome 8 (SLSN8) [MIM:616307]
Q8NEZ4	KMT2C_HUMAN	526	R	P	Polymorphism	-
Q8NEZ4	KMT2C_HUMAN	2412	P	T	Polymorphism	-
Q8NEZ4	KMT2C_HUMAN	400	D	N	Unclassified	A colorectal cancer sample
Q8NEZ4	KMT2C_HUMAN	823	I	N	Polymorphism	-
Q8NEZ4	KMT2C_HUMAN	316	T	S	Polymorphism	-
Q8NEZ4	KMT2C_HUMAN	291	L	F	Polymorphism	-
Q8NEZ4	KMT2C_HUMAN	478	L	W	Unclassified	A colorectal cancer sample
Q8NEZ4	KMT2C_HUMAN	1836	S	N	Polymorphism	-
Q8NEZ4	KMT2C_HUMAN	3698	T	S	Unclassified	A colorectal cancer sample
Q8NEZ4	KMT2C_HUMAN	347	C	G	Unclassified	A colorectal cancer sample
Q8NEZ4	KMT2C_HUMAN	823	I	T	Polymorphism	-
Q8NEZ4	KMT2C_HUMAN	2008	T	A	Polymorphism	-
Q8NEZ4	KMT2C_HUMAN	2600	P	A	Polymorphism	-
Q8NF50	DOCK8_HUMAN	652	I	V	Polymorphism	-
Q8NF50	DOCK8_HUMAN	473	K	R	Disease	Hyper-IgE recurrent infection syndrome 2, autosomal recessive (HIES2) [MIM:243700]
Q8NF50	DOCK8_HUMAN	169	E	K	Polymorphism	-
Q8NF50	DOCK8_HUMAN	237	E	K	Polymorphism	-
Q8NF50	DOCK8_HUMAN	1008	R	W	Polymorphism	-
Q8NF50	DOCK8_HUMAN	97	P	T	Polymorphism	-
Q8NF50	DOCK8_HUMAN	1970	A	P	Polymorphism	-
Q8NF50	DOCK8_HUMAN	597	A	V	Polymorphism	-
Q8NF50	DOCK8_HUMAN	413	N	S	Polymorphism	-
Q8NF64	ZMIZ2_HUMAN	408	L	F	Polymorphism	-
Q8NF91	SYNE1_HUMAN	5507	L	R	Unclassified	A colorectal cancer sample
Q8NF91	SYNE1_HUMAN	8468	R	H	Unclassified	A colorectal cancer sample
Q8NF91	SYNE1_HUMAN	7506	S	G	Polymorphism	-
Q8NF91	SYNE1_HUMAN	3088	A	T	Unclassified	-
Q8NF91	SYNE1_HUMAN	8387	V	L	Disease	Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]
Q8NF91	SYNE1_HUMAN	655	Q	R	Unclassified	-
Q8NF91	SYNE1_HUMAN	8461	E	K	Disease	Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]
Q8NF91	SYNE1_HUMAN	4203	E	K	Polymorphism	-
Q8NF91	SYNE1_HUMAN	4210	E	D	Unclassified	A colorectal cancer sample
Q8NF91	SYNE1_HUMAN	4121	K	N	Polymorphism	-
Q8NF91	SYNE1_HUMAN	5377	M	L	Polymorphism	-
Q8NF91	SYNE1_HUMAN	3671	V	M	Unclassified	A colorectal cancer sample
Q8NF91	SYNE1_HUMAN	4944	L	M	Polymorphism	-
Q8NF91	SYNE1_HUMAN	8323	G	A	Polymorphism	-
Q8NF91	SYNE1_HUMAN	6664	T	I	Polymorphism	-
Q8NF91	SYNE1_HUMAN	5426	T	M	Polymorphism	-
Q8NF91	SYNE1_HUMAN	4223	R	H	Unclassified	A colorectal cancer sample
Q8NF91	SYNE1_HUMAN	1062	R	S	Polymorphism	-
Q8NF91	SYNE1_HUMAN	4546	V	I	Polymorphism	-
Q8NF91	SYNE1_HUMAN	885	L	V	Polymorphism	-
Q8NF91	SYNE1_HUMAN	1035	V	A	Polymorphism	-
Q8NF91	SYNE1_HUMAN	7302	F	V	Polymorphism	-
Q8NF91	SYNE1_HUMAN	3892	L	S	Unclassified	-
Q8NF91	SYNE1_HUMAN	2795	A	V	Polymorphism	-
Q8NF91	SYNE1_HUMAN	8161	N	H	Polymorphism	-
Q8NF91	SYNE1_HUMAN	4060	E	D	Polymorphism	-
Q8NF91	SYNE1_HUMAN	2030	S	G	Polymorphism	-
Q8NF91	SYNE1_HUMAN	6566	M	I	Polymorphism	-
Q8NF91	SYNE1_HUMAN	4121	K	R	Polymorphism	-
Q8NF91	SYNE1_HUMAN	5015	L	M	Polymorphism	-
Q8NF91	SYNE1_HUMAN	8095	R	H	Disease	Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]
Q8NF91	SYNE1_HUMAN	3954	S	T	Polymorphism	-
Q8NF91	SYNE1_HUMAN	8687	T	I	Polymorphism	-
Q8NF91	SYNE1_HUMAN	6951	Q	H	Polymorphism	-
Q8NF91	SYNE1_HUMAN	8741	L	M	Polymorphism	-
Q8NF91	SYNE1_HUMAN	8168	A	S	Polymorphism	-
Q8NF91	SYNE1_HUMAN	3874	K	T	Polymorphism	-
Q8NF91	SYNE1_HUMAN	4596	S	T	Polymorphism	-
Q8NFA0	UBP32_HUMAN	76	H	Y	Polymorphism	-
Q8NFA0	UBP32_HUMAN	1568	G	R	Polymorphism	-
Q8NFA0	UBP32_HUMAN	1469	A	G	Polymorphism	-
Q8NFA0	UBP32_HUMAN	1578	T	I	Polymorphism	-
Q8NFB2	T185A_HUMAN	179	M	V	Polymorphism	-
Q8NFB2	T185A_HUMAN	243	S	C	Polymorphism	-
Q8NFC6	BD1L1_HUMAN	650	L	I	Polymorphism	-
Q8NFC6	BD1L1_HUMAN	2396	P	L	Polymorphism	-
Q8NFC6	BD1L1_HUMAN	246	S	I	Unclassified	A breast cancer sample
Q8NFC6	BD1L1_HUMAN	1448	T	A	Polymorphism	-
Q8NFC6	BD1L1_HUMAN	2944	V	M	Polymorphism	-
Q8NFC6	BD1L1_HUMAN	1645	V	I	Polymorphism	-
Q8NFC6	BD1L1_HUMAN	1369	A	G	Polymorphism	-
Q8NFC6	BD1L1_HUMAN	2361	G	S	Polymorphism	-
Q8NFC6	BD1L1_HUMAN	429	T	M	Polymorphism	-
Q8NFC6	BD1L1_HUMAN	1515	T	A	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	490	H	R	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	451	G	R	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	122	R	H	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	318	G	R	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	653	N	S	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	670	S	G	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	595	T	I	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	366	L	F	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	347	K	T	Unclassified	A breast infiltrating ductal carcinoma sample
Q8NFD2	ANKK1_HUMAN	717	Q	L	Unclassified	A lung large cell carcinoma sample
Q8NFD2	ANKK1_HUMAN	736	R	L	Unclassified	A lung squamous cell carcinoma sample
Q8NFD2	ANKK1_HUMAN	442	G	R	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	276	P	L	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	713	E	K	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	4	D	Y	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	426	E	K	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	239	A	T	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	376	E	K	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	596	P	L	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	367	H	Q	Polymorphism	-
Q8NFD2	ANKK1_HUMAN	764	E	K	Unclassified	A lung neuroendocrine carcinoma sample
Q8NFD5	ARI1B_HUMAN	488	P	R	Unclassified	-
Q8NFD5	ARI1B_HUMAN	814	G	A	Unclassified	A breast cancer sample
Q8NFD5	ARI1B_HUMAN	531	M	T	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1303	G	R	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	497	S	N	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1413	P	S	Unclassified	-
Q8NFD5	ARI1B_HUMAN	363	A	V	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1987	D	Y	Disease	-
Q8NFD5	ARI1B_HUMAN	1436	G	A	Disease	-
Q8NFD5	ARI1B_HUMAN	1851	D	N	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1271	G	E	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	246	G	S	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1954	K	R	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1898	K	R	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1773	K	R	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1249	Q	P	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	2163	Q	R	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	876	Q	E	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	429	M	V	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1092	V	I	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1573	T	M	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1466	Q	K	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	82	Q	H	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1321	S	N	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1563	P	L	Unclassified	-
Q8NFD5	ARI1B_HUMAN	1659	N	S	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1411	P	S	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	1506	R	H	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	396	G	A	Polymorphism	-
Q8NFD5	ARI1B_HUMAN	771	S	L	Unclassified	-
Q8NFD5	ARI1B_HUMAN	980	Q	L	Polymorphism	-
Q8NFF2	NCKX4_HUMAN	146	A	V	Disease	Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5) [MIM:615887]
Q8NFF2	NCKX4_HUMAN	613	V	I	Polymorphism	-
Q8NFF2	NCKX4_HUMAN	499	S	C	Disease	Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5) [MIM:615887]
Q8NFF5	FAD1_HUMAN	107	P	L	Polymorphism	-
Q8NFF5	FAD1_HUMAN	530	R	C	Disease	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD) [MIM:255100]
Q8NFG4	FLCN_HUMAN	362	R	C	Polymorphism	-
Q8NFG4	FLCN_HUMAN	508	K	R	Disease	Birt-Hogg-Dube syndrome (BHD) [MIM:135150]
Q8NFG4	FLCN_HUMAN	320	R	Q	Unclassified	A primary colorectal cancer
Q8NFG4	FLCN_HUMAN	392	R	G	Unclassified	A primary colorectal cancer
Q8NFG4	FLCN_HUMAN	132	E	K	Disease	Primary spontaneous pneumothorax (PSP) [MIM:173600]
Q8NFG4	FLCN_HUMAN	239	R	C	Disease	Renal cell carcinoma (RCC) [MIM:144700]
Q8NFG4	FLCN_HUMAN	444	A	S	Unclassified	A primary clear-cell renal cell carcinoma
Q8NFG4	FLCN_HUMAN	238	A	V	Unclassified	A renal cell carcinoma cell line
Q8NFG4	FLCN_HUMAN	429	H	Y	Disease	Primary spontaneous pneumothorax (PSP) [MIM:173600]
Q8NFG4	FLCN_HUMAN	445	A	T	Unclassified	A sporadic colorectal carcinoma
Q8NFG4	FLCN_HUMAN	108	S	I	Disease	Birt-Hogg-Dube syndrome (BHD) [MIM:135150]
Q8NFG4	FLCN_HUMAN	79	S	W	Unclassified	A sporadic colorectal carcinoma
Q8NFH8	REPS2_HUMAN	321	S	C	Polymorphism	-
Q8NFI3	ENASE_HUMAN	731	E	K	Polymorphism	-
Q8NFI3	ENASE_HUMAN	596	S	N	Polymorphism	-
Q8NFJ5	RAI3_HUMAN	118	S	G	Polymorphism	-
Q8NFJ5	RAI3_HUMAN	9	C	F	Polymorphism	-
Q8NFJ5	RAI3_HUMAN	182	T	A	Polymorphism	-
Q8NFJ6	PKR2_HUMAN	334	V	M	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	113	Y	H	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	85	R	C	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	115	V	M	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	323	M	I	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	357	R	W	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	290	P	S	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	331	V	M	Unclassified	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	188	S	L	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	335	T	M	Polymorphism	-
Q8NFJ6	PKR2_HUMAN	173	L	R	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	178	W	S	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	248	R	Q	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	202	S	G	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	164	R	Q	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	158	V	I	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	210	Q	R	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	268	R	C	Unclassified	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ6	PKR2_HUMAN	85	R	H	Disease	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]
Q8NFJ8	BHE22_HUMAN	28	S	A	Polymorphism	-
Q8NFJ9	BBS1_HUMAN	206	L	V	Polymorphism	-
Q8NFJ9	BBS1_HUMAN	305	G	S	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9	BBS1_HUMAN	434	Y	S	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9	BBS1_HUMAN	234	E	K	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9	BBS1_HUMAN	330	I	T	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9	BBS1_HUMAN	245	P	L	Polymorphism	-
Q8NFJ9	BBS1_HUMAN	503	L	H	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9	BBS1_HUMAN	559	G	D	Polymorphism	-
Q8NFJ9	BBS1_HUMAN	518	L	Q	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9	BBS1_HUMAN	160	R	Q	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9	BBS1_HUMAN	35	H	R	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9	BBS1_HUMAN	518	L	P	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9	BBS1_HUMAN	148	D	N	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9	BBS1_HUMAN	53	K	E	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9	BBS1_HUMAN	390	M	R	Disease	Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFL0	B3GN7_HUMAN	233	V	I	Polymorphism	-
Q8NFM7	I17RD_HUMAN	577	P	Q	Disease	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
Q8NFM7	I17RD_HUMAN	301	V	M	Polymorphism	-
Q8NFM7	I17RD_HUMAN	255	T	M	Polymorphism	-
Q8NFM7	I17RD_HUMAN	468	S	L	Disease	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
Q8NFM7	I17RD_HUMAN	131	K	T	Disease	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
Q8NFM7	I17RD_HUMAN	735	A	V	Disease	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
Q8NFM7	I17RD_HUMAN	162	K	R	Disease	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
Q8NFM7	I17RD_HUMAN	379	Y	C	Disease	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
Q8NFM7	I17RD_HUMAN	306	P	S	Disease	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]
Q8NFN8	GP156_HUMAN	516	E	D	Polymorphism	-
Q8NFP4	MDGA1_HUMAN	935	P	S	Polymorphism	-
Q8NFP4	MDGA1_HUMAN	61	L	P	Polymorphism	-
Q8NFP9	NBEA_HUMAN	569	A	P	Polymorphism	-
Q8NFP9	NBEA_HUMAN	2501	I	V	Polymorphism	-
Q8NFQ5	BPIB6_HUMAN	97	V	I	Polymorphism	-
Q8NFQ5	BPIB6_HUMAN	149	P	T	Polymorphism	-
Q8NFQ5	BPIB6_HUMAN	16	T	M	Polymorphism	-
Q8NFQ5	BPIB6_HUMAN	347	S	G	Polymorphism	-
Q8NFQ5	BPIB6_HUMAN	296	R	H	Polymorphism	-
Q8NFQ6	BPIFC_HUMAN	302	V	L	Polymorphism	-
Q8NFQ6	BPIFC_HUMAN	451	S	P	Polymorphism	-
Q8NFQ6	BPIFC_HUMAN	269	V	A	Polymorphism	-
Q8NFQ6	BPIFC_HUMAN	479	E	A	Polymorphism	-
Q8NFR7	CC148_HUMAN	75	Q	R	Polymorphism	-
Q8NFR7	CC148_HUMAN	329	K	R	Polymorphism	-
Q8NFR7	CC148_HUMAN	157	M	V	Polymorphism	-
Q8NFR9	I17RE_HUMAN	402	P	S	Polymorphism	-
Q8NFR9	I17RE_HUMAN	417	S	T	Polymorphism	-
Q8NFR9	I17RE_HUMAN	219	Y	C	Polymorphism	-
Q8NFT2	STEA2_HUMAN	456	R	Q	Polymorphism	-
Q8NFT2	STEA2_HUMAN	475	M	I	Polymorphism	-
Q8NFT2	STEA2_HUMAN	17	F	C	Polymorphism	-
Q8NFT2	STEA2_HUMAN	40	D	Y	Polymorphism	-
Q8NFT2	STEA2_HUMAN	214	G	E	Polymorphism	-
Q8NFT8	DNER_HUMAN	433	P	L	Polymorphism	-
Q8NFU0	BEST4_HUMAN	62	Y	C	Polymorphism	-
Q8NFU0	BEST4_HUMAN	331	Q	E	Polymorphism	-
Q8NFU0	BEST4_HUMAN	402	R	L	Polymorphism	-
Q8NFU0	BEST4_HUMAN	217	Y	S	Polymorphism	-
Q8NFU5	IPMK_HUMAN	349	M	I	Polymorphism	-
Q8NFU7	TET1_HUMAN	2056	K	N	Unclassified	-
Q8NFU7	TET1_HUMAN	193	S	T	Polymorphism	-
Q8NFU7	TET1_HUMAN	162	D	G	Polymorphism	-
Q8NFU7	TET1_HUMAN	256	A	V	Polymorphism	-
Q8NFU7	TET1_HUMAN	1018	N	S	Polymorphism	-
Q8NFU7	TET1_HUMAN	1123	I	M	Polymorphism	-
Q8NFW1	COMA1_HUMAN	703	P	T	Polymorphism	-
Q8NFW1	COMA1_HUMAN	938	A	D	Polymorphism	-
Q8NFW1	COMA1_HUMAN	320	S	G	Polymorphism	-
Q8NFW5	DMBX1_HUMAN	205	A	P	Polymorphism	-
Q8NFW9	MYRIP_HUMAN	365	P	L	Polymorphism	-
Q8NFW9	MYRIP_HUMAN	673	P	S	Polymorphism	-
Q8NFW9	MYRIP_HUMAN	312	A	T	Polymorphism	-
Q8NFY4	SEM6D_HUMAN	969	S	T	Polymorphism	-
Q8NFY4	SEM6D_HUMAN	478	S	N	Polymorphism	-
Q8NFY4	SEM6D_HUMAN	307	N	S	Polymorphism	-
Q8NFY9	KBTB8_HUMAN	405	R	K	Unclassified	A breast cancer sample
Q8NFY9	KBTB8_HUMAN	198	S	C	Unclassified	A breast cancer sample
Q8NFY9	KBTB8_HUMAN	420	C	R	Polymorphism	-
Q8NFZ5	TNIP2_HUMAN	396	A	V	Polymorphism	-
Q8NFZ5	TNIP2_HUMAN	249	Q	H	Polymorphism	-
Q8NFZ5	TNIP2_HUMAN	255	E	K	Polymorphism	-
Q8NFZ6	VN1R2_HUMAN	38	C	R	Polymorphism	-
Q8NFZ8	CADM4_HUMAN	225	T	A	Polymorphism	-
Q8NG04	S2610_HUMAN	270	L	S	Unclassified	A colorectal cancer sample
Q8NG04	S2610_HUMAN	546	L	V	Polymorphism	-
Q8NG04	S2610_HUMAN	193	A	T	Polymorphism	-
Q8NG04	S2610_HUMAN	130	M	T	Polymorphism	-
Q8NG06	TRI58_HUMAN	374	T	M	Polymorphism	-
Q8NG06	TRI58_HUMAN	322	V	I	Polymorphism	-
Q8NG06	TRI58_HUMAN	3	W	S	Polymorphism	-
Q8NG08	HELB_HUMAN	172	E	K	Polymorphism	-
Q8NG08	HELB_HUMAN	980	T	I	Polymorphism	-
Q8NG08	HELB_HUMAN	575	T	A	Polymorphism	-
Q8NG08	HELB_HUMAN	191	L	P	Polymorphism	-
Q8NG08	HELB_HUMAN	966	P	L	Polymorphism	-
Q8NG08	HELB_HUMAN	267	L	F	Polymorphism	-
Q8NG27	PJA1_HUMAN	606	E	D	Polymorphism	-
Q8NG27	PJA1_HUMAN	432	S	N	Polymorphism	-
Q8NG31	KNL1_HUMAN	177	M	V	Polymorphism	-
Q8NG31	KNL1_HUMAN	43	R	T	Polymorphism	-
Q8NG31	KNL1_HUMAN	1285	K	E	Polymorphism	-
Q8NG31	KNL1_HUMAN	598	M	T	Polymorphism	-
Q8NG31	KNL1_HUMAN	70	T	A	Polymorphism	-
Q8NG31	KNL1_HUMAN	2041	M	I	Disease	Microcephaly 4, primary, autosomal recessive (MCPH4) [MIM:604321]
Q8NG31	KNL1_HUMAN	113	T	A	Polymorphism	-
Q8NG31	KNL1_HUMAN	1190	L	V	Polymorphism	-
Q8NG31	KNL1_HUMAN	1473	T	A	Polymorphism	-
Q8NG31	KNL1_HUMAN	486	A	S	Polymorphism	-
Q8NG31	KNL1_HUMAN	936	R	G	Polymorphism	-
Q8NG31	KNL1_HUMAN	2338	C	Y	Polymorphism	-
Q8NG48	LINES_HUMAN	641	E	D	Polymorphism	-
Q8NG48	LINES_HUMAN	680	R	S	Polymorphism	-
Q8NG48	LINES_HUMAN	472	S	T	Polymorphism	-
Q8NG48	LINES_HUMAN	541	I	V	Polymorphism	-
Q8NG48	LINES_HUMAN	313	E	K	Unclassified	Mental retardation, autosomal recessive 27 (MRT27) [MIM:614340]
Q8NG48	LINES_HUMAN	331	A	V	Polymorphism	-
Q8NG48	LINES_HUMAN	406	V	M	Polymorphism	-
Q8NG48	LINES_HUMAN	29	I	V	Polymorphism	-
Q8NG50	RDM1_HUMAN	32	H	R	Polymorphism	-
Q8NG50	RDM1_HUMAN	127	C	W	Polymorphism	-
Q8NG57	ELOA3_HUMAN	375	L	P	Polymorphism	-
Q8NG66	NEK11_HUMAN	617	D	N	Unclassified	A colorectal adenocarcinoma sample
Q8NG66	NEK11_HUMAN	492	E	K	Unclassified	A colorectal adenocarcinoma sample
Q8NG66	NEK11_HUMAN	548	M	T	Polymorphism	-
Q8NG66	NEK11_HUMAN	606	E	K	Polymorphism	-
Q8NG66	NEK11_HUMAN	123	Y	C	Polymorphism	-
Q8NG66	NEK11_HUMAN	213	S	L	Polymorphism	-
Q8NG66	NEK11_HUMAN	488	E	V	Polymorphism	-
Q8NG66	NEK11_HUMAN	263	I	V	Polymorphism	-
Q8NG66	NEK11_HUMAN	451	E	K	Polymorphism	-
Q8NG66	NEK11_HUMAN	562	V	A	Polymorphism	-
Q8NG66	NEK11_HUMAN	108	T	M	Unclassified	A colorectal adenocarcinoma sample
Q8NG75	OR5T1_HUMAN	60	P	L	Polymorphism	-
Q8NG75	OR5T1_HUMAN	164	S	G	Polymorphism	-
Q8NG76	O2T33_HUMAN	169	A	V	Polymorphism	-
Q8NG77	O2T12_HUMAN	296	K	N	Polymorphism	-
Q8NG77	O2T12_HUMAN	301	R	L	Polymorphism	-
Q8NG77	O2T12_HUMAN	104	T	S	Polymorphism	-
Q8NG77	O2T12_HUMAN	69	M	V	Polymorphism	-
Q8NG77	O2T12_HUMAN	41	A	S	Polymorphism	-
Q8NG81	OR2M7_HUMAN	191	D	N	Polymorphism	-
Q8NG81	OR2M7_HUMAN	78	V	A	Polymorphism	-
Q8NG81	OR2M7_HUMAN	178	C	F	Polymorphism	-
Q8NG81	OR2M7_HUMAN	35	F	L	Polymorphism	-
Q8NG84	O2AK2_HUMAN	203	V	M	Polymorphism	-
Q8NG84	O2AK2_HUMAN	99	S	N	Polymorphism	-
Q8NG85	OR2L3_HUMAN	139	M	V	Polymorphism	-
Q8NG85	OR2L3_HUMAN	104	S	L	Polymorphism	-
Q8NG85	OR2L3_HUMAN	39	I	T	Polymorphism	-
Q8NG85	OR2L3_HUMAN	78	P	L	Polymorphism	-
Q8NG92	O13H1_HUMAN	266	Y	S	Polymorphism	-
Q8NG95	OR7G3_HUMAN	29	M	V	Polymorphism	-
Q8NG97	OR2Z1_HUMAN	138	R	C	Polymorphism	-
Q8NG98	OR7D4_HUMAN	75	S	C	Polymorphism	-
Q8NG98	OR7D4_HUMAN	17	L	F	Polymorphism	-
Q8NG98	OR7D4_HUMAN	88	R	W	Polymorphism	-
Q8NG98	OR7D4_HUMAN	139	C	R	Polymorphism	-
Q8NG98	OR7D4_HUMAN	136	M	I	Polymorphism	-
Q8NG98	OR7D4_HUMAN	133	T	M	Polymorphism	-
Q8NG98	OR7D4_HUMAN	162	L	P	Polymorphism	-
Q8NG98	OR7D4_HUMAN	84	S	N	Polymorphism	-
Q8NG98	OR7D4_HUMAN	52	D	G	Polymorphism	-
Q8NG98	OR7D4_HUMAN	139	C	Y	Polymorphism	-
Q8NG98	OR7D4_HUMAN	279	A	D	Polymorphism	-
Q8NG98	OR7D4_HUMAN	79	P	L	Polymorphism	-
Q8NG98	OR7D4_HUMAN	292	L	M	Polymorphism	-
Q8NG98	OR7D4_HUMAN	131	H	Q	Polymorphism	-
Q8NG99	OR7G2_HUMAN	281	F	V	Polymorphism	-
Q8NGA0	OR7G1_HUMAN	252	Y	C	Polymorphism	-
Q8NGA0	OR7G1_HUMAN	83	V	A	Polymorphism	-
Q8NGA0	OR7G1_HUMAN	167	S	F	Polymorphism	-
Q8NGA0	OR7G1_HUMAN	141	W	C	Polymorphism	-
Q8NGA0	OR7G1_HUMAN	156	A	V	Polymorphism	-
Q8NGA5	O10H4_HUMAN	100	N	K	Polymorphism	-
Q8NGA5	O10H4_HUMAN	281	T	A	Polymorphism	-
Q8NGA5	O10H4_HUMAN	144	H	R	Polymorphism	-
Q8NGB6	OR4M2_HUMAN	239	M	V	Polymorphism	-
Q8NGB6	OR4M2_HUMAN	96	G	E	Polymorphism	-
Q8NGB6	OR4M2_HUMAN	284	R	H	Polymorphism	-
Q8NGB6	OR4M2_HUMAN	225	F	L	Polymorphism	-
Q8NGB6	OR4M2_HUMAN	121	D	N	Polymorphism	-
Q8NGC0	O5AU1_HUMAN	274	N	K	Polymorphism	-
Q8NGC0	O5AU1_HUMAN	194	S	L	Polymorphism	-
Q8NGC0	O5AU1_HUMAN	299	I	V	Polymorphism	-
Q8NGC0	O5AU1_HUMAN	80	V	M	Polymorphism	-
Q8NGC0	O5AU1_HUMAN	117	L	F	Polymorphism	-
Q8NGC1	O11G2_HUMAN	99	I	N	Polymorphism	-
Q8NGC1	O11G2_HUMAN	116	V	I	Polymorphism	-
Q8NGC2	OR4E2_HUMAN	118	V	M	Polymorphism	-
Q8NGC2	OR4E2_HUMAN	234	Q	R	Polymorphism	-
Q8NGC3	O10G2_HUMAN	209	R	G	Polymorphism	-
Q8NGC3	O10G2_HUMAN	187	R	P	Polymorphism	-
Q8NGC3	O10G2_HUMAN	85	R	L	Polymorphism	-
Q8NGC3	O10G2_HUMAN	67	L	F	Polymorphism	-
Q8NGC4	O10G3_HUMAN	73	S	G	Polymorphism	-
Q8NGC7	O11H6_HUMAN	32	L	V	Polymorphism	-
Q8NGC7	O11H6_HUMAN	195	L	F	Polymorphism	-
Q8NGC7	O11H6_HUMAN	107	I	T	Polymorphism	-
Q8NGC7	O11H6_HUMAN	236	Y	H	Polymorphism	-
Q8NGC7	O11H6_HUMAN	146	R	H	Polymorphism	-
Q8NGC7	O11H6_HUMAN	259	C	R	Polymorphism	-
Q8NGC7	O11H6_HUMAN	7	S	Y	Polymorphism	-
Q8NGC9	O11H4_HUMAN	301	T	S	Polymorphism	-
Q8NGD0	OR4M1_HUMAN	232	G	D	Polymorphism	-
Q8NGD0	OR4M1_HUMAN	116	T	I	Polymorphism	-
Q8NGD1	OR4N2_HUMAN	76	I	T	Polymorphism	-
Q8NGD1	OR4N2_HUMAN	135	V	L	Polymorphism	-
Q8NGD1	OR4N2_HUMAN	133	P	S	Polymorphism	-
Q8NGD2	OR4K2_HUMAN	307	N	I	Polymorphism	-
Q8NGD3	OR4K5_HUMAN	319	R	K	Polymorphism	-
Q8NGD4	OR4K1_HUMAN	304	R	H	Polymorphism	-
Q8NGD4	OR4K1_HUMAN	138	R	Q	Polymorphism	-
Q8NGD4	OR4K1_HUMAN	89	R	H	Polymorphism	-
Q8NGD5	OR4KE_HUMAN	145	L	R	Polymorphism	-
Q8NGD5	OR4KE_HUMAN	119	M	V	Polymorphism	-
Q8NGE0	O10AD_HUMAN	275	F	V	Polymorphism	-
Q8NGE0	O10AD_HUMAN	8	V	A	Polymorphism	-
Q8NGE0	O10AD_HUMAN	166	R	Q	Polymorphism	-
Q8NGE0	O10AD_HUMAN	279	Y	H	Polymorphism	-
Q8NGE1	OR6C4_HUMAN	83	M	T	Polymorphism	-
Q8NGE1	OR6C4_HUMAN	37	I	V	Polymorphism	-
Q8NGE3	O10P1_HUMAN	200	V	M	Polymorphism	-
Q8NGE3	O10P1_HUMAN	88	P	L	Polymorphism	-
Q8NGE5	O10A7_HUMAN	96	G	S	Polymorphism	-
Q8NGE7	OR9K2_HUMAN	103	E	A	Polymorphism	-
Q8NGE7	OR9K2_HUMAN	207	R	H	Polymorphism	-
Q8NGE7	OR9K2_HUMAN	45	R	C	Polymorphism	-
Q8NGE8	OR4D9_HUMAN	159	Q	R	Polymorphism	-
Q8NGE9	OR9Q2_HUMAN	179	C	R	Polymorphism	-
Q8NGF0	O52B6_HUMAN	167	A	T	Polymorphism	-
Q8NGF0	O52B6_HUMAN	57	T	A	Polymorphism	-
Q8NGF0	O52B6_HUMAN	288	V	I	Polymorphism	-
Q8NGF0	O52B6_HUMAN	170	H	R	Polymorphism	-
Q8NGF0	O52B6_HUMAN	111	L	H	Polymorphism	-
Q8NGF1	O52R1_HUMAN	201	N	Y	Polymorphism	-
Q8NGF1	O52R1_HUMAN	245	S	A	Polymorphism	-
Q8NGF1	O52R1_HUMAN	88	F	L	Polymorphism	-
Q8NGF1	O52R1_HUMAN	129	I	T	Polymorphism	-
Q8NGF3	O51D1_HUMAN	89	I	V	Polymorphism	-
Q8NGF4	O5AP2_HUMAN	105	A	T	Polymorphism	-
Q8NGF6	O10W1_HUMAN	263	R	Q	Polymorphism	-
Q8NGF7	OR5BH_HUMAN	308	Y	C	Polymorphism	-
Q8NGF7	OR5BH_HUMAN	80	L	I	Polymorphism	-
Q8NGF8	OR4B1_HUMAN	237	T	N	Polymorphism	-
Q8NGF8	OR4B1_HUMAN	63	C	Y	Polymorphism	-
Q8NGG0	OR8J3_HUMAN	271	D	E	Polymorphism	-
Q8NGG0	OR8J3_HUMAN	87	V	I	Polymorphism	-
Q8NGG0	OR8J3_HUMAN	208	V	F	Polymorphism	-
Q8NGG0	OR8J3_HUMAN	57	N	T	Polymorphism	-
Q8NGG2	OR5T2_HUMAN	125	T	M	Polymorphism	-
Q8NGG2	OR5T2_HUMAN	21	S	Y	Polymorphism	-
Q8NGG2	OR5T2_HUMAN	64	T	I	Polymorphism	-
Q8NGG2	OR5T2_HUMAN	87	V	L	Polymorphism	-
Q8NGG2	OR5T2_HUMAN	309	H	D	Polymorphism	-
Q8NGG2	OR5T2_HUMAN	238	L	V	Polymorphism	-
Q8NGG3	OR5T3_HUMAN	84	W	G	Polymorphism	-
Q8NGG4	OR8H1_HUMAN	2	G	S	Polymorphism	-
Q8NGG4	OR8H1_HUMAN	22	E	V	Polymorphism	-
Q8NGG5	OR8K1_HUMAN	27	P	T	Polymorphism	-
Q8NGG5	OR8K1_HUMAN	21	M	V	Polymorphism	-
Q8NGG5	OR8K1_HUMAN	84	A	T	Polymorphism	-
Q8NGG7	OR8A1_HUMAN	133	T	R	Polymorphism	-
Q8NGG7	OR8A1_HUMAN	218	S	L	Polymorphism	-
Q8NGG8	OR8B3_HUMAN	20	H	R	Polymorphism	-
Q8NGG8	OR8B3_HUMAN	114	M	I	Polymorphism	-
Q8NGH3	OR2D3_HUMAN	82	L	I	Polymorphism	-
Q8NGH3	OR2D3_HUMAN	155	R	W	Polymorphism	-
Q8NGH3	OR2D3_HUMAN	165	W	S	Polymorphism	-
Q8NGH7	O52L1_HUMAN	88	D	N	Polymorphism	-
Q8NGH7	O52L1_HUMAN	161	C	R	Polymorphism	-
Q8NGH7	O52L1_HUMAN	183	K	T	Polymorphism	-
Q8NGH7	O52L1_HUMAN	297	W	R	Polymorphism	-
Q8NGH7	O52L1_HUMAN	140	C	R	Polymorphism	-
Q8NGH9	O52E4_HUMAN	184	R	M	Polymorphism	-
Q8NGH9	O52E4_HUMAN	257	F	L	Polymorphism	-
Q8NGH9	O52E4_HUMAN	49	F	L	Polymorphism	-
Q8NGH9	O52E4_HUMAN	176	V	I	Polymorphism	-
Q8NGH9	O52E4_HUMAN	227	F	L	Polymorphism	-
Q8NGH9	O52E4_HUMAN	228	R	H	Polymorphism	-
Q8NGI0	O52N2_HUMAN	249	S	A	Polymorphism	-
Q8NGI0	O52N2_HUMAN	264	H	R	Polymorphism	-
Q8NGI2	O52N4_HUMAN	209	W	G	Polymorphism	-
Q8NGI2	O52N4_HUMAN	218	N	I	Polymorphism	-
Q8NGI2	O52N4_HUMAN	106	T	I	Polymorphism	-
Q8NGI2	O52N4_HUMAN	167	L	R	Polymorphism	-
Q8NGI3	O56B1_HUMAN	106	C	R	Polymorphism	-
Q8NGI4	OR4DB_HUMAN	197	F	L	Polymorphism	-
Q8NGI7	O10V1_HUMAN	117	V	A	Polymorphism	-
Q8NGI7	O10V1_HUMAN	123	Q	R	Polymorphism	-
Q8NGI8	O5AN1_HUMAN	289	L	F	Polymorphism	-
Q8NGI9	OR5A2_HUMAN	172	P	L	Polymorphism	-
Q8NGI9	OR5A2_HUMAN	103	F	L	Polymorphism	-
Q8NGJ0	OR5A1_HUMAN	183	D	N	Polymorphism	-
Q8NGJ0	OR5A1_HUMAN	52	I	V	Polymorphism	-
Q8NGJ1	OR4D6_HUMAN	96	D	G	Polymorphism	-
Q8NGJ1	OR4D6_HUMAN	102	F	S	Polymorphism	-
Q8NGJ1	OR4D6_HUMAN	111	D	A	Polymorphism	-
Q8NGJ1	OR4D6_HUMAN	263	M	T	Polymorphism	-
Q8NGJ1	OR4D6_HUMAN	151	S	T	Polymorphism	-
Q8NGJ1	OR4D6_HUMAN	59	M	V	Polymorphism	-
Q8NGJ1	OR4D6_HUMAN	11	E	Q	Polymorphism	-
Q8NGJ2	O52H1_HUMAN	89	A	T	Polymorphism	-
Q8NGJ2	O52H1_HUMAN	235	G	C	Polymorphism	-
Q8NGJ2	O52H1_HUMAN	130	H	R	Polymorphism	-
Q8NGJ2	O52H1_HUMAN	47	V	I	Polymorphism	-
Q8NGJ2	O52H1_HUMAN	45	V	A	Polymorphism	-
Q8NGJ2	O52H1_HUMAN	283	M	T	Polymorphism	-
Q8NGJ2	O52H1_HUMAN	242	C	R	Polymorphism	-
Q8NGJ4	O52E2_HUMAN	264	R	C	Polymorphism	-
Q8NGJ4	O52E2_HUMAN	5	N	S	Polymorphism	-
Q8NGJ4	O52E2_HUMAN	167	R	W	Polymorphism	-
Q8NGJ5	O51L1_HUMAN	207	A	V	Polymorphism	-
Q8NGJ5	O51L1_HUMAN	196	T	I	Polymorphism	-
Q8NGJ6	O51A4_HUMAN	267	R	G	Polymorphism	-
Q8NGJ6	O51A4_HUMAN	311	R	W	Polymorphism	-
Q8NGJ6	O51A4_HUMAN	45	G	C	Polymorphism	-
Q8NGJ6	O51A4_HUMAN	288	T	M	Polymorphism	-
Q8NGJ6	O51A4_HUMAN	72	D	N	Polymorphism	-
Q8NGJ7	O51A2_HUMAN	288	M	T	Polymorphism	-
Q8NGJ7	O51A2_HUMAN	59	G	E	Polymorphism	-
Q8NGJ7	O51A2_HUMAN	45	G	C	Polymorphism	-
Q8NGJ7	O51A2_HUMAN	289	K	N	Polymorphism	-
Q8NGJ8	O51S1_HUMAN	60	Q	E	Polymorphism	-
Q8NGJ8	O51S1_HUMAN	57	I	N	Polymorphism	-
Q8NGJ8	O51S1_HUMAN	264	L	F	Polymorphism	-
Q8NGJ8	O51S1_HUMAN	178	L	R	Polymorphism	-
Q8NGK0	O51G2_HUMAN	94	A	E	Polymorphism	-
Q8NGK0	O51G2_HUMAN	96	E	Q	Polymorphism	-
Q8NGK1	O51G1_HUMAN	125	Y	S	Polymorphism	-
Q8NGK1	O51G1_HUMAN	303	Q	H	Polymorphism	-
Q8NGK1	O51G1_HUMAN	195	I	T	Polymorphism	-
Q8NGK1	O51G1_HUMAN	114	S	L	Polymorphism	-
Q8NGK1	O51G1_HUMAN	124	R	H	Polymorphism	-
Q8NGK2	O52B4_HUMAN	139	T	I	Polymorphism	-
Q8NGK3	O52K2_HUMAN	124	R	C	Polymorphism	-
Q8NGK3	O52K2_HUMAN	236	R	H	Polymorphism	-
Q8NGK3	O52K2_HUMAN	302	R	C	Polymorphism	-
Q8NGK4	O52K1_HUMAN	153	R	W	Polymorphism	-
Q8NGK4	O52K1_HUMAN	52	Q	R	Polymorphism	-
Q8NGK5	O52M1_HUMAN	305	S	R	Polymorphism	-
Q8NGK5	O52M1_HUMAN	9	S	L	Polymorphism	-
Q8NGK6	O52I1_HUMAN	41	T	I	Polymorphism	-
Q8NGK9	OR5DG_HUMAN	156	A	T	Polymorphism	-
Q8NGL0	OR5L2_HUMAN	59	V	M	Polymorphism	-
Q8NGL0	OR5L2_HUMAN	81	M	R	Polymorphism	-
Q8NGL1	OR5DI_HUMAN	270	H	R	Polymorphism	-
Q8NGL1	OR5DI_HUMAN	118	V	M	Polymorphism	-
Q8NGL1	OR5DI_HUMAN	136	N	D	Polymorphism	-
Q8NGL1	OR5DI_HUMAN	36	Y	C	Polymorphism	-
Q8NGL2	OR5L1_HUMAN	54	R	W	Polymorphism	-
Q8NGL2	OR5L1_HUMAN	287	S	P	Polymorphism	-
Q8NGL2	OR5L1_HUMAN	46	I	F	Polymorphism	-
Q8NGL3	OR5DE_HUMAN	249	S	A	Polymorphism	-
Q8NGL3	OR5DE_HUMAN	290	L	P	Polymorphism	-
Q8NGL4	OR5DD_HUMAN	236	R	L	Polymorphism	-
Q8NGL4	OR5DD_HUMAN	124	R	H	Polymorphism	-
Q8NGL4	OR5DD_HUMAN	62	C	Y	Polymorphism	-
Q8NGL6	O4A15_HUMAN	26	P	S	Polymorphism	-
Q8NGL6	O4A15_HUMAN	287	A	V	Polymorphism	-
Q8NGL9	OR4CG_HUMAN	259	L	P	Polymorphism	-
Q8NGL9	OR4CG_HUMAN	203	A	T	Polymorphism	-
Q8NGL9	OR4CG_HUMAN	76	T	A	Polymorphism	-
Q8NGL9	OR4CG_HUMAN	25	V	L	Polymorphism	-
Q8NGL9	OR4CG_HUMAN	49	T	A	Polymorphism	-
Q8NGM8	OR6M1_HUMAN	276	T	K	Polymorphism	-
Q8NGM9	OR8D4_HUMAN	133	R	K	Polymorphism	-
Q8NGM9	OR8D4_HUMAN	298	R	K	Polymorphism	-
Q8NGM9	OR8D4_HUMAN	283	L	P	Polymorphism	-
Q8NGM9	OR8D4_HUMAN	55	L	R	Polymorphism	-
Q8NGM9	OR8D4_HUMAN	200	F	L	Polymorphism	-
Q8NGM9	OR8D4_HUMAN	92	I	V	Polymorphism	-
Q8NGM9	OR8D4_HUMAN	120	C	Y	Polymorphism	-
Q8NGM9	OR8D4_HUMAN	205	F	S	Polymorphism	-
Q8NGN1	OR6T1_HUMAN	23	I	T	Polymorphism	-
Q8NGN1	OR6T1_HUMAN	251	I	V	Polymorphism	-
Q8NGN1	OR6T1_HUMAN	64	R	W	Polymorphism	-
Q8NGN2	O10S1_HUMAN	93	K	R	Polymorphism	-
Q8NGN2	O10S1_HUMAN	63	G	S	Polymorphism	-
Q8NGN2	O10S1_HUMAN	112	A	V	Polymorphism	-
Q8NGN3	O10G4_HUMAN	146	G	S	Polymorphism	-
Q8NGN3	O10G4_HUMAN	101	Y	C	Polymorphism	-
Q8NGN3	O10G4_HUMAN	226	R	Q	Polymorphism	-
Q8NGN3	O10G4_HUMAN	181	P	S	Polymorphism	-
Q8NGN3	O10G4_HUMAN	195	V	E	Polymorphism	-
Q8NGN3	O10G4_HUMAN	146	G	R	Polymorphism	-
Q8NGN3	O10G4_HUMAN	24	L	P	Polymorphism	-
Q8NGN3	O10G4_HUMAN	134	M	V	Polymorphism	-
Q8NGN3	O10G4_HUMAN	295	K	Q	Polymorphism	-
Q8NGN3	O10G4_HUMAN	146	G	C	Polymorphism	-
Q8NGN3	O10G4_HUMAN	235	R	G	Polymorphism	-
Q8NGN4	O10G9_HUMAN	228	H	R	Polymorphism	-
Q8NGN4	O10G9_HUMAN	172	Q	R	Polymorphism	-
Q8NGN4	O10G9_HUMAN	136	S	T	Polymorphism	-
Q8NGN4	O10G9_HUMAN	134	M	V	Polymorphism	-
Q8NGN6	O10G7_HUMAN	13	T	M	Polymorphism	-
Q8NGN6	O10G7_HUMAN	28	I	V	Polymorphism	-
Q8NGN6	O10G7_HUMAN	5	T	S	Polymorphism	-
Q8NGN6	O10G7_HUMAN	18	A	V	Polymorphism	-
Q8NGN6	O10G7_HUMAN	90	T	A	Polymorphism	-
Q8NGN6	O10G7_HUMAN	20	G	A	Polymorphism	-
Q8NGN6	O10G7_HUMAN	136	T	S	Polymorphism	-
Q8NGP0	OR4CD_HUMAN	133	V	I	Polymorphism	-
Q8NGP0	OR4CD_HUMAN	2	A	V	Polymorphism	-
Q8NGP2	OR8J1_HUMAN	120	Y	C	Polymorphism	-
Q8NGP2	OR8J1_HUMAN	114	M	L	Polymorphism	-
Q8NGP2	OR8J1_HUMAN	36	G	V	Polymorphism	-
Q8NGP3	OR5M9_HUMAN	270	K	R	Polymorphism	-
Q8NGP4	OR5M3_HUMAN	163	G	S	Polymorphism	-
Q8NGP4	OR5M3_HUMAN	84	L	F	Polymorphism	-
Q8NGP8	OR5M1_HUMAN	282	S	T	Polymorphism	-
Q8NGP9	O5AR1_HUMAN	225	I	V	Polymorphism	-
Q8NGQ1	OR9G4_HUMAN	206	N	D	Polymorphism	-
Q8NGQ1	OR9G4_HUMAN	222	V	A	Polymorphism	-
Q8NGQ1	OR9G4_HUMAN	43	F	S	Polymorphism	-
Q8NGQ2	OR6Q1_HUMAN	172	F	I	Unclassified	-
Q8NGQ2	OR6Q1_HUMAN	316	G	A	Polymorphism	-
Q8NGQ3	OR1S2_HUMAN	59	I	T	Polymorphism	-
Q8NGQ3	OR1S2_HUMAN	225	V	A	Polymorphism	-
Q8NGQ3	OR1S2_HUMAN	225	V	I	Polymorphism	-
Q8NGQ4	O10Q1_HUMAN	12	E	D	Polymorphism	-
Q8NGQ4	O10Q1_HUMAN	191	R	C	Polymorphism	-
Q8NGQ5	OR9Q1_HUMAN	159	R	L	Polymorphism	-
Q8NGR2	OR1L6_HUMAN	259	M	I	Polymorphism	-
Q8NGR2	OR1L6_HUMAN	251	I	T	Polymorphism	-
Q8NGR2	OR1L6_HUMAN	186	C	Y	Polymorphism	-
Q8NGR2	OR1L6_HUMAN	59	Q	K	Polymorphism	-
Q8NGR3	OR1K1_HUMAN	271	W	R	Polymorphism	-
Q8NGR5	OR1L4_HUMAN	310	Y	H	Polymorphism	-
Q8NGR5	OR1L4_HUMAN	234	G	R	Polymorphism	-
Q8NGR6	OR1B1_HUMAN	314	V	G	Polymorphism	-
Q8NGR6	OR1B1_HUMAN	230	A	T	Polymorphism	-
Q8NGR6	OR1B1_HUMAN	263	C	W	Polymorphism	-
Q8NGR6	OR1B1_HUMAN	149	L	S	Polymorphism	-
Q8NGR8	OR1L8_HUMAN	211	R	P	Polymorphism	-
Q8NGR8	OR1L8_HUMAN	27	T	P	Polymorphism	-
Q8NGR9	OR1N2_HUMAN	244	V	G	Polymorphism	-
Q8NGR9	OR1N2_HUMAN	37	W	R	Polymorphism	-
Q8NGR9	OR1N2_HUMAN	301	T	M	Polymorphism	-
Q8NGR9	OR1N2_HUMAN	237	R	C	Polymorphism	-
Q8NGS0	OR1N1_HUMAN	190	T	N	Unclassified	A breast cancer sample
Q8NGS0	OR1N1_HUMAN	18	P	S	Polymorphism	-
Q8NGS0	OR1N1_HUMAN	227	R	Q	Polymorphism	-
Q8NGS2	OR1J2_HUMAN	165	R	Q	Polymorphism	-
Q8NGS2	OR1J2_HUMAN	119	A	T	Polymorphism	-
Q8NGS3	OR1J1_HUMAN	318	N	S	Polymorphism	-
Q8NGS4	O13F1_HUMAN	94	F	S	Polymorphism	-
Q8NGS4	O13F1_HUMAN	254	T	M	Polymorphism	-
Q8NGS4	O13F1_HUMAN	101	M	V	Polymorphism	-
Q8NGS4	O13F1_HUMAN	18	F	S	Polymorphism	-
Q8NGS4	O13F1_HUMAN	270	I	T	Polymorphism	-
Q8NGS4	O13F1_HUMAN	134	V	I	Polymorphism	-
Q8NGS6	O13C3_HUMAN	293	K	T	Polymorphism	-
Q8NGS7	O13C8_HUMAN	19	A	D	Polymorphism	-
Q8NGS8	O13C5_HUMAN	195	N	S	Polymorphism	-
Q8NGS8	O13C5_HUMAN	189	C	Y	Polymorphism	-
Q8NGS8	O13C5_HUMAN	258	M	T	Polymorphism	-
Q8NGS8	O13C5_HUMAN	18	S	F	Polymorphism	-
Q8NGS8	O13C5_HUMAN	86	L	V	Polymorphism	-
Q8NGS8	O13C5_HUMAN	32	F	L	Polymorphism	-
Q8NGS8	O13C5_HUMAN	290	M	T	Polymorphism	-
Q8NGS8	O13C5_HUMAN	282	I	V	Polymorphism	-
Q8NGS8	O13C5_HUMAN	117	V	M	Polymorphism	-
Q8NGS8	O13C5_HUMAN	69	L	M	Polymorphism	-
Q8NGS9	O13C2_HUMAN	301	K	E	Polymorphism	-
Q8NGS9	O13C2_HUMAN	160	S	T	Polymorphism	-
Q8NGT0	O13C9_HUMAN	91	T	S	Polymorphism	-
Q8NGT0	O13C9_HUMAN	24	E	D	Polymorphism	-
Q8NGT0	O13C9_HUMAN	197	F	L	Polymorphism	-
Q8NGT2	O13J1_HUMAN	133	H	R	Polymorphism	-
Q8NGT5	OR9A2_HUMAN	53	R	H	Polymorphism	-
Q8NGT7	O2A12_HUMAN	223	A	T	Polymorphism	-
Q8NGV0	OR2Y1_HUMAN	128	R	C	Polymorphism	-
Q8NGV0	OR2Y1_HUMAN	154	V	M	Polymorphism	-
Q8NGV0	OR2Y1_HUMAN	200	V	L	Polymorphism	-
Q8NGV5	O13D1_HUMAN	21	F	L	Polymorphism	-
Q8NGV5	O13D1_HUMAN	64	L	V	Polymorphism	-
Q8NGV5	O13D1_HUMAN	277	S	L	Polymorphism	-
Q8NGV5	O13D1_HUMAN	191	Q	H	Polymorphism	-
Q8NGV6	OR5H6_HUMAN	179	S	L	Polymorphism	-
Q8NGV6	OR5H6_HUMAN	88	S	L	Polymorphism	-
Q8NGV6	OR5H6_HUMAN	46	A	E	Polymorphism	-
Q8NGV6	OR5H6_HUMAN	195	C	R	Polymorphism	-
Q8NGV6	OR5H6_HUMAN	88	S	W	Polymorphism	-
Q8NGV6	OR5H6_HUMAN	145	A	P	Polymorphism	-
Q8NGV6	OR5H6_HUMAN	272	T	A	Polymorphism	-
Q8NGV6	OR5H6_HUMAN	285	D	N	Polymorphism	-
Q8NGV7	OR5H2_HUMAN	230	I	V	Polymorphism	-
Q8NGV7	OR5H2_HUMAN	286	I	V	Polymorphism	-
Q8NGV7	OR5H2_HUMAN	266	R	C	Polymorphism	-
Q8NGW1	OR6B3_HUMAN	234	C	Y	Polymorphism	-
Q8NGW6	OR6K6_HUMAN	80	G	D	Polymorphism	-
Q8NGW6	OR6K6_HUMAN	39	E	D	Polymorphism	-
Q8NGW6	OR6K6_HUMAN	247	R	Q	Polymorphism	-
Q8NGW6	OR6K6_HUMAN	49	H	Y	Polymorphism	-
Q8NGW6	OR6K6_HUMAN	197	C	R	Polymorphism	-
Q8NGW6	OR6K6_HUMAN	320	K	R	Polymorphism	-
Q8NGW6	OR6K6_HUMAN	159	R	C	Polymorphism	-
Q8NGW6	OR6K6_HUMAN	134	S	L	Polymorphism	-
Q8NGW6	OR6K6_HUMAN	261	H	R	Polymorphism	-
Q8NGW6	OR6K6_HUMAN	211	P	L	Polymorphism	-
Q8NGX0	O11L1_HUMAN	142	A	T	Polymorphism	-
Q8NGX0	O11L1_HUMAN	108	G	S	Polymorphism	-
Q8NGX0	O11L1_HUMAN	171	R	P	Polymorphism	-
Q8NGX0	O11L1_HUMAN	117	F	L	Polymorphism	-
Q8NGX1	O2T34_HUMAN	267	R	P	Polymorphism	-
Q8NGX3	O10T2_HUMAN	16	V	A	Polymorphism	-
Q8NGX3	O10T2_HUMAN	155	F	L	Polymorphism	-
Q8NGX3	O10T2_HUMAN	78	I	V	Polymorphism	-
Q8NGX3	O10T2_HUMAN	65	F	L	Polymorphism	-
Q8NGX3	O10T2_HUMAN	137	I	M	Polymorphism	-
Q8NGX3	O10T2_HUMAN	312	K	N	Polymorphism	-
Q8NGX6	O10R2_HUMAN	239	L	F	Polymorphism	-
Q8NGX6	O10R2_HUMAN	191	A	T	Polymorphism	-
Q8NGX6	O10R2_HUMAN	216	E	G	Polymorphism	-
Q8NGX8	OR6Y1_HUMAN	104	T	I	Polymorphism	-
Q8NGY0	O10X1_HUMAN	180	F	L	Polymorphism	-
Q8NGY0	O10X1_HUMAN	81	A	S	Polymorphism	-
Q8NGY0	O10X1_HUMAN	60	I	T	Polymorphism	-
Q8NGY0	O10X1_HUMAN	172	S	P	Polymorphism	-
Q8NGY1	O10Z1_HUMAN	294	N	T	Polymorphism	-
Q8NGY2	OR6K2_HUMAN	156	L	V	Polymorphism	-
Q8NGY2	OR6K2_HUMAN	159	I	F	Polymorphism	-
Q8NGY2	OR6K2_HUMAN	6	R	Q	Polymorphism	-
Q8NGY3	OR6K3_HUMAN	159	Q	H	Polymorphism	-
Q8NGY3	OR6K3_HUMAN	244	P	S	Polymorphism	-
Q8NGY3	OR6K3_HUMAN	308	R	K	Polymorphism	-
Q8NGY3	OR6K3_HUMAN	264	P	L	Polymorphism	-
Q8NGY3	OR6K3_HUMAN	20	G	R	Polymorphism	-
Q8NGY3	OR6K3_HUMAN	279	D	N	Polymorphism	-
Q8NGY3	OR6K3_HUMAN	216	V	M	Polymorphism	-
Q8NGY5	OR6N1_HUMAN	194	I	T	Polymorphism	-
Q8NGY5	OR6N1_HUMAN	293	R	H	Polymorphism	-
Q8NGY5	OR6N1_HUMAN	245	F	L	Polymorphism	-
Q8NGY5	OR6N1_HUMAN	10	A	T	Polymorphism	-
Q8NGY5	OR6N1_HUMAN	261	Q	R	Polymorphism	-
Q8NGY6	OR6N2_HUMAN	204	A	V	Polymorphism	-
Q8NGY6	OR6N2_HUMAN	250	I	V	Polymorphism	-
Q8NGY9	OR2L8_HUMAN	226	H	R	Polymorphism	-
Q8NGY9	OR2L8_HUMAN	202	A	T	Polymorphism	-
Q8NGY9	OR2L8_HUMAN	294	K	R	Polymorphism	-
Q8NGY9	OR2L8_HUMAN	217	Y	C	Polymorphism	-
Q8NGY9	OR2L8_HUMAN	301	T	K	Polymorphism	-
Q8NGY9	OR2L8_HUMAN	196	G	C	Polymorphism	-
Q8NGZ3	O13G1_HUMAN	146	M	L	Polymorphism	-
Q8NGZ3	O13G1_HUMAN	46	K	I	Polymorphism	-
Q8NGZ3	O13G1_HUMAN	132	I	V	Polymorphism	-
Q8NGZ3	O13G1_HUMAN	224	R	C	Polymorphism	-
Q8NGZ4	OR2G3_HUMAN	258	V	M	Polymorphism	-
Q8NGZ4	OR2G3_HUMAN	164	L	S	Polymorphism	-
Q8NGZ5	OR2G2_HUMAN	24	P	A	Polymorphism	-
Q8NGZ5	OR2G2_HUMAN	120	V	L	Polymorphism	-
Q8NGZ5	OR2G2_HUMAN	167	L	P	Polymorphism	-
Q8NGZ5	OR2G2_HUMAN	236	R	G	Polymorphism	-
Q8NGZ6	OR6F1_HUMAN	215	F	L	Polymorphism	-
Q8NGZ6	OR6F1_HUMAN	13	L	P	Polymorphism	-
Q8NGZ6	OR6F1_HUMAN	159	P	A	Polymorphism	-
Q8NH00	OR2T4_HUMAN	31	N	S	Polymorphism	-
Q8NH01	O2T11_HUMAN	119	C	R	Polymorphism	-
Q8NH01	O2T11_HUMAN	309	Q	R	Polymorphism	-
Q8NH03	OR2T3_HUMAN	204	M	T	Polymorphism	-
Q8NH04	O2T27_HUMAN	36	L	V	Polymorphism	-
Q8NH04	O2T27_HUMAN	45	K	M	Polymorphism	-
Q8NH05	OR4Q3_HUMAN	135	T	A	Polymorphism	-
Q8NH05	OR4Q3_HUMAN	238	F	L	Polymorphism	-
Q8NH09	OR8S1_HUMAN	82	L	P	Polymorphism	-
Q8NH09	OR8S1_HUMAN	128	R	C	Polymorphism	-
Q8NH09	OR8S1_HUMAN	48	M	V	Polymorphism	-
Q8NH10	OR8U1_HUMAN	293	Q	R	Polymorphism	-
Q8NH10	OR8U1_HUMAN	206	M	I	Polymorphism	-
Q8NH10	OR8U1_HUMAN	288	L	V	Polymorphism	-
Q8NH10	OR8U1_HUMAN	137	T	S	Polymorphism	-
Q8NH10	OR8U1_HUMAN	109	I	V	Polymorphism	-
Q8NH10	OR8U1_HUMAN	20	H	R	Polymorphism	-
Q8NH10	OR8U1_HUMAN	165	R	C	Polymorphism	-
Q8NH10	OR8U1_HUMAN	112	S	C	Polymorphism	-
Q8NH10	OR8U1_HUMAN	206	M	T	Polymorphism	-
Q8NH16	OR2L2_HUMAN	249	F	L	Polymorphism	-
Q8NH16	OR2L2_HUMAN	259	V	L	Polymorphism	-
Q8NH18	OR5J2_HUMAN	136	M	I	Polymorphism	-
Q8NH40	OR6S1_HUMAN	42	T	I	Polymorphism	-
Q8NH40	OR6S1_HUMAN	237	R	H	Polymorphism	-
Q8NH40	OR6S1_HUMAN	296	R	C	Polymorphism	-
Q8NH40	OR6S1_HUMAN	156	V	I	Polymorphism	-
Q8NH41	OR4KF_HUMAN	89	N	S	Polymorphism	-
Q8NH41	OR4KF_HUMAN	255	A	E	Polymorphism	-
Q8NH41	OR4KF_HUMAN	310	I	M	Polymorphism	-
Q8NH41	OR4KF_HUMAN	117	S	A	Polymorphism	-
Q8NH41	OR4KF_HUMAN	304	L	P	Polymorphism	-
Q8NH41	OR4KF_HUMAN	112	E	V	Polymorphism	-
Q8NH42	OR4KD_HUMAN	292	Q	K	Polymorphism	-
Q8NH43	OR4L1_HUMAN	93	S	F	Polymorphism	-
Q8NH43	OR4L1_HUMAN	16	G	V	Polymorphism	-
Q8NH43	OR4L1_HUMAN	2	D	N	Polymorphism	-
Q8NH43	OR4L1_HUMAN	52	R	S	Polymorphism	-
Q8NH43	OR4L1_HUMAN	101	M	K	Polymorphism	-
Q8NH43	OR4L1_HUMAN	40	M	V	Polymorphism	-
Q8NH43	OR4L1_HUMAN	109	G	S	Polymorphism	-
Q8NH43	OR4L1_HUMAN	160	I	T	Polymorphism	-
Q8NH48	OR5B3_HUMAN	49	W	R	Polymorphism	-
Q8NH48	OR5B3_HUMAN	247	G	A	Polymorphism	-
Q8NH48	OR5B3_HUMAN	181	A	T	Polymorphism	-
Q8NH48	OR5B3_HUMAN	35	I	F	Polymorphism	-
Q8NH48	OR5B3_HUMAN	198	I	V	Polymorphism	-
Q8NH48	OR5B3_HUMAN	296	K	R	Polymorphism	-
Q8NH48	OR5B3_HUMAN	170	N	S	Polymorphism	-
Q8NH48	OR5B3_HUMAN	30	P	L	Polymorphism	-
Q8NH49	OR4X1_HUMAN	165	P	L	Polymorphism	-
Q8NH49	OR4X1_HUMAN	196	L	Q	Polymorphism	-
Q8NH49	OR4X1_HUMAN	144	R	G	Polymorphism	-
Q8NH49	OR4X1_HUMAN	282	P	S	Polymorphism	-
Q8NH49	OR4X1_HUMAN	246	D	N	Polymorphism	-
Q8NH50	OR8K5_HUMAN	68	F	S	Polymorphism	-
Q8NH51	OR8K3_HUMAN	275	I	M	Polymorphism	-
Q8NH51	OR8K3_HUMAN	173	V	I	Polymorphism	-
Q8NH51	OR8K3_HUMAN	122	L	R	Polymorphism	-
Q8NH53	O52N1_HUMAN	247	F	I	Polymorphism	-
Q8NH53	O52N1_HUMAN	167	R	C	Polymorphism	-
Q8NH53	O52N1_HUMAN	79	T	N	Polymorphism	-
Q8NH53	O52N1_HUMAN	125	C	Y	Polymorphism	-
Q8NH53	O52N1_HUMAN	101	A	T	Polymorphism	-
Q8NH54	O56A3_HUMAN	51	M	T	Polymorphism	-
Q8NH55	O52E5_HUMAN	209	D	G	Polymorphism	-
Q8NH55	O52E5_HUMAN	234	P	L	Polymorphism	-
Q8NH55	O52E5_HUMAN	165	I	T	Polymorphism	-
Q8NH56	O52N5_HUMAN	133	V	I	Polymorphism	-
Q8NH59	O51Q1_HUMAN	178	R	H	Polymorphism	-
Q8NH59	O51Q1_HUMAN	211	V	M	Polymorphism	-
Q8NH59	O51Q1_HUMAN	153	C	R	Polymorphism	-
Q8NH59	O51Q1_HUMAN	146	T	I	Polymorphism	-
Q8NH59	O51Q1_HUMAN	155	V	I	Polymorphism	-
Q8NH59	O51Q1_HUMAN	308	F	S	Polymorphism	-
Q8NH60	O52J3_HUMAN	226	V	I	Polymorphism	-
Q8NH60	O52J3_HUMAN	128	V	I	Polymorphism	-
Q8NH60	O52J3_HUMAN	77	T	A	Polymorphism	-
Q8NH60	O52J3_HUMAN	141	Q	L	Polymorphism	-
Q8NH64	O51A7_HUMAN	196	V	A	Polymorphism	-
Q8NH64	O51A7_HUMAN	81	M	T	Polymorphism	-
Q8NH64	O51A7_HUMAN	8	E	K	Polymorphism	-
Q8NH67	O52I2_HUMAN	25	L	P	Polymorphism	-
Q8NH67	O52I2_HUMAN	167	T	M	Polymorphism	-
Q8NH67	O52I2_HUMAN	178	I	V	Polymorphism	-
Q8NH67	O52I2_HUMAN	74	I	L	Polymorphism	-
Q8NH67	O52I2_HUMAN	183	I	V	Polymorphism	-
Q8NH69	OR5W2_HUMAN	163	A	P	Polymorphism	-
Q8NH69	OR5W2_HUMAN	189	R	C	Polymorphism	-
Q8NH69	OR5W2_HUMAN	39	F	L	Polymorphism	-
Q8NH69	OR5W2_HUMAN	310	F	Y	Polymorphism	-
Q8NH69	OR5W2_HUMAN	215	F	L	Polymorphism	-
Q8NH69	OR5W2_HUMAN	65	H	R	Polymorphism	-
Q8NH69	OR5W2_HUMAN	160	M	T	Polymorphism	-
Q8NH70	O4A16_HUMAN	232	H	R	Polymorphism	-
Q8NH70	O4A16_HUMAN	303	K	M	Polymorphism	-
Q8NH70	O4A16_HUMAN	188	L	I	Polymorphism	-
Q8NH72	OR4C6_HUMAN	133	I	T	Polymorphism	-
Q8NH73	OR4S2_HUMAN	195	V	G	Polymorphism	-
Q8NH73	OR4S2_HUMAN	72	S	T	Polymorphism	-
Q8NH74	O10A6_HUMAN	140	V	G	Polymorphism	-
Q8NH74	O10A6_HUMAN	287	L	P	Polymorphism	-
Q8NH74	O10A6_HUMAN	117	A	V	Polymorphism	-
Q8NH76	O56B4_HUMAN	277	P	S	Polymorphism	-
Q8NH79	OR6X1_HUMAN	190	T	N	Polymorphism	-
Q8NH83	OR4A5_HUMAN	6	N	S	Polymorphism	-
Q8NH83	OR4A5_HUMAN	23	K	N	Polymorphism	-
Q8NH83	OR4A5_HUMAN	219	L	Q	Polymorphism	-
Q8NH85	OR5R1_HUMAN	122	C	R	Polymorphism	-
Q8NH85	OR5R1_HUMAN	103	C	Y	Polymorphism	-
Q8NH85	OR5R1_HUMAN	128	S	G	Polymorphism	-
Q8NH85	OR5R1_HUMAN	7	I	T	Polymorphism	-
Q8NH85	OR5R1_HUMAN	274	A	V	Polymorphism	-
Q8NH85	OR5R1_HUMAN	162	I	T	Polymorphism	-
Q8NH85	OR5R1_HUMAN	184	F	L	Polymorphism	-
Q8NH85	OR5R1_HUMAN	132	Y	H	Polymorphism	-
Q8NH85	OR5R1_HUMAN	121	D	G	Polymorphism	-
Q8NH87	OR9G1_HUMAN	53	C	R	Polymorphism	-
Q8NH87	OR9G1_HUMAN	61	F	V	Polymorphism	-
Q8NH87	OR9G1_HUMAN	185	E	K	Polymorphism	-
Q8NH87	OR9G1_HUMAN	83	T	I	Polymorphism	-
Q8NH87	OR9G1_HUMAN	169	R	C	Polymorphism	-
Q8NH87	OR9G1_HUMAN	117	V	M	Polymorphism	-
Q8NH87	OR9G1_HUMAN	259	A	S	Polymorphism	-
Q8NH87	OR9G1_HUMAN	53	C	Y	Polymorphism	-
Q8NH87	OR9G1_HUMAN	231	K	Q	Polymorphism	-
Q8NH87	OR9G1_HUMAN	62	T	I	Polymorphism	-
Q8NH87	OR9G1_HUMAN	112	Y	C	Polymorphism	-
Q8NH87	OR9G1_HUMAN	233	Y	H	Polymorphism	-
Q8NH87	OR9G1_HUMAN	233	Y	C	Polymorphism	-
Q8NH87	OR9G1_HUMAN	98	C	G	Polymorphism	-
Q8NH90	O5AK2_HUMAN	43	S	T	Polymorphism	-
Q8NH90	O5AK2_HUMAN	92	M	I	Polymorphism	-
Q8NH90	O5AK2_HUMAN	4	G	V	Polymorphism	-
Q8NH92	OR1S1_HUMAN	206	L	M	Polymorphism	-
Q8NH92	OR1S1_HUMAN	123	I	T	Polymorphism	-
Q8NH92	OR1S1_HUMAN	135	H	R	Polymorphism	-
Q8NH92	OR1S1_HUMAN	5	S	G	Polymorphism	-
Q8NH92	OR1S1_HUMAN	227	S	I	Polymorphism	-
Q8NH92	OR1S1_HUMAN	183	N	D	Polymorphism	-
Q8NH93	OR1L3_HUMAN	106	V	A	Polymorphism	-
Q8NH93	OR1L3_HUMAN	121	N	D	Polymorphism	-
Q8NH93	OR1L3_HUMAN	54	R	G	Polymorphism	-
Q8NH94	OR1L1_HUMAN	145	S	G	Polymorphism	-
Q8NH94	OR1L1_HUMAN	149	T	A	Polymorphism	-
Q8NH94	OR1L1_HUMAN	349	G	R	Polymorphism	-
Q8NH94	OR1L1_HUMAN	308	L	V	Polymorphism	-
Q8NHA4	O2AE1_HUMAN	217	Y	C	Polymorphism	-
Q8NHA4	O2AE1_HUMAN	77	I	T	Polymorphism	-
Q8NHA4	O2AE1_HUMAN	267	L	V	Polymorphism	-
Q8NHC4	O10J5_HUMAN	233	R	W	Polymorphism	-
Q8NHC5	O14AG_HUMAN	238	I	T	Polymorphism	-
Q8NHC7	O14CZ_HUMAN	141	Q	R	Polymorphism	-
Q8NHC7	O14CZ_HUMAN	225	G	R	Polymorphism	-
Q8NHC7	O14CZ_HUMAN	231	D	Y	Polymorphism	-
Q8NHC8	OR2T6_HUMAN	21	N	D	Polymorphism	-
Q8NHC8	OR2T6_HUMAN	23	C	G	Polymorphism	-
Q8NHC8	OR2T6_HUMAN	159	L	P	Polymorphism	-
Q8NHC8	OR2T6_HUMAN	243	S	A	Polymorphism	-
Q8NHC8	OR2T6_HUMAN	57	T	N	Polymorphism	-
Q8NHH9	ATLA2_HUMAN	272	N	S	Polymorphism	-
Q8NHH9	ATLA2_HUMAN	420	D	H	Polymorphism	-
Q8NHH9	ATLA2_HUMAN	18	W	R	Polymorphism	-
Q8NHJ6	LIRB4_HUMAN	18	R	S	Polymorphism	-
Q8NHJ6	LIRB4_HUMAN	330	C	Y	Polymorphism	-
Q8NHJ6	LIRB4_HUMAN	20	H	D	Polymorphism	-
Q8NHJ6	LIRB4_HUMAN	5	F	L	Polymorphism	-
Q8NHJ6	LIRB4_HUMAN	362	K	T	Polymorphism	-
Q8NHJ6	LIRB4_HUMAN	335	N	D	Polymorphism	-
Q8NHJ6	LIRB4_HUMAN	362	K	E	Polymorphism	-
Q8NHJ6	LIRB4_HUMAN	414	Q	R	Polymorphism	-
Q8NHJ6	LIRB4_HUMAN	223	D	G	Polymorphism	-
Q8NHK3	KI2LB_HUMAN	6	V	I	Polymorphism	-
Q8NHK3	KI2LB_HUMAN	276	E	G	Polymorphism	-
Q8NHK3	KI2LB_HUMAN	141	T	A	Polymorphism	-
Q8NHL6	LIRB1_HUMAN	620	L	F	Polymorphism	-
Q8NHL6	LIRB1_HUMAN	142	I	T	Polymorphism	-
Q8NHL6	LIRB1_HUMAN	93	A	T	Polymorphism	-
Q8NHL6	LIRB1_HUMAN	625	E	K	Polymorphism	-
Q8NHL6	LIRB1_HUMAN	68	L	P	Polymorphism	-
Q8NHL6	LIRB1_HUMAN	155	S	I	Polymorphism	-
Q8NHL6	LIRB1_HUMAN	459	L	V	Polymorphism	-
Q8NHL6	LIRB1_HUMAN	301	H	Y	Polymorphism	-
Q8NHP1	ARK74_HUMAN	255	A	T	Polymorphism	-
Q8NHP1	ARK74_HUMAN	322	F	V	Polymorphism	-
Q8NHP6	MSPD2_HUMAN	240	S	N	Polymorphism	-
Q8NHP7	EXD1_HUMAN	489	T	A	Polymorphism	-
Q8NHP8	PLBL2_HUMAN	54	Q	P	Polymorphism	-
Q8NHP8	PLBL2_HUMAN	524	R	C	Polymorphism	-
Q8NHQ1	CEP70_HUMAN	537	N	S	Polymorphism	-
Q8NHQ1	CEP70_HUMAN	135	S	N	Polymorphism	-
Q8NHQ9	DDX55_HUMAN	101	V	L	Polymorphism	-
Q8NHQ9	DDX55_HUMAN	264	N	S	Polymorphism	-
Q8NHQ9	DDX55_HUMAN	154	E	G	Polymorphism	-
Q8NHQ9	DDX55_HUMAN	556	N	S	Polymorphism	-
Q8NHR7	TERB2_HUMAN	190	H	N	Polymorphism	-
Q8NHR7	TERB2_HUMAN	103	S	R	Polymorphism	-
Q8NHR7	TERB2_HUMAN	31	P	R	Polymorphism	-
Q8NHS0	DNJB8_HUMAN	153	M	L	Polymorphism	-
Q8NHS3	MFSD8_HUMAN	294	T	K	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	429	G	D	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	447	P	L	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	465	R	W	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	465	R	Q	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	109	V	G	Polymorphism	-
Q8NHS3	MFSD8_HUMAN	470	M	V	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	121	Y	C	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	310	G	D	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	412	P	L	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	52	G	R	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	458	T	K	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	336	E	Q	Disease	Macular dystrophy with central cone involvement (CCMD) [MIM:616170]
Q8NHS3	MFSD8_HUMAN	160	T	N	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	385	G	R	Polymorphism	-
Q8NHS3	MFSD8_HUMAN	160	T	I	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	157	A	P	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS3	MFSD8_HUMAN	423	A	V	Polymorphism	-
Q8NHS3	MFSD8_HUMAN	139	R	H	Disease	Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]
Q8NHS4	CLHC1_HUMAN	178	A	V	Polymorphism	-
Q8NHS4	CLHC1_HUMAN	503	A	V	Polymorphism	-
Q8NHS4	CLHC1_HUMAN	426	V	I	Polymorphism	-
Q8NHS4	CLHC1_HUMAN	552	D	Y	Polymorphism	-
Q8NHS9	SPT22_HUMAN	148	V	M	Polymorphism	-
Q8NHS9	SPT22_HUMAN	160	I	T	Polymorphism	-
Q8NHS9	SPT22_HUMAN	155	Q	R	Polymorphism	-
Q8NHS9	SPT22_HUMAN	112	R	T	Polymorphism	-
Q8NHU0	CT453_HUMAN	55	E	A	Polymorphism	-
Q8NHU2	CFA61_HUMAN	790	T	P	Polymorphism	-
Q8NHU2	CFA61_HUMAN	505	D	E	Polymorphism	-
Q8NHU2	CFA61_HUMAN	74	P	R	Polymorphism	-
Q8NHU2	CFA61_HUMAN	671	V	I	Polymorphism	-
Q8NHU2	CFA61_HUMAN	371	P	L	Polymorphism	-
Q8NHU2	CFA61_HUMAN	369	V	I	Polymorphism	-
Q8NHU2	CFA61_HUMAN	254	H	R	Polymorphism	-
Q8NHU2	CFA61_HUMAN	660	P	L	Polymorphism	-
Q8NHU3	SMS2_HUMAN	21	T	M	Polymorphism	-
Q8NHU6	TDRD7_HUMAN	456	P	L	Polymorphism	-
Q8NHU6	TDRD7_HUMAN	150	V	A	Polymorphism	-
Q8NHV1	GIMA7_HUMAN	83	R	C	Polymorphism	-
Q8NHV9	RHXF1_HUMAN	177	D	H	Polymorphism	-
Q8NHV9	RHXF1_HUMAN	172	R	H	Unclassified	-
Q8NHW3	MAFA_HUMAN	64	S	F	Disease	Insulinomatosis and diabetes mellitus (INSDM) [MIM:147630]
Q8NHW6	OTOSP_HUMAN	7	P	L	Polymorphism	-
Q8NHX9	TPC2_HUMAN	376	K	R	Polymorphism	-
Q8NHX9	TPC2_HUMAN	564	L	P	Polymorphism	-
Q8NHX9	TPC2_HUMAN	734	G	E	Polymorphism	-
Q8NHX9	TPC2_HUMAN	484	M	L	Polymorphism	-
Q8NHY0	B4GN2_HUMAN	459	P	H	Unclassified	A colorectal cancer sample
Q8NHY0	B4GN2_HUMAN	40	A	D	Polymorphism	-
Q8NHY0	B4GN2_HUMAN	466	C	R	Polymorphism	-
Q8NHY3	GA2L2_HUMAN	540	A	T	Polymorphism	-
Q8NHY3	GA2L2_HUMAN	829	R	W	Polymorphism	-
Q8NHY3	GA2L2_HUMAN	654	A	V	Polymorphism	-
Q8NHY3	GA2L2_HUMAN	164	A	V	Polymorphism	-
Q8NHY5	HUS1B_HUMAN	201	Q	R	Polymorphism	-
Q8NHY5	HUS1B_HUMAN	130	H	Q	Polymorphism	-
Q8NHY5	HUS1B_HUMAN	268	D	Y	Polymorphism	-
Q8NHY6	ZFP28_HUMAN	620	A	V	Polymorphism	-
Q8NHY6	ZFP28_HUMAN	141	S	W	Polymorphism	-
Q8NI08	NCOA7_HUMAN	942	D	E	Polymorphism	-
Q8NI08	NCOA7_HUMAN	533	G	R	Polymorphism	-
Q8NI08	NCOA7_HUMAN	399	S	A	Polymorphism	-
Q8NI17	IL31R_HUMAN	155	D	N	Polymorphism	-
Q8NI17	IL31R_HUMAN	489	S	F	Disease	Amyloidosis, primary localized cutaneous, 2 (PLCA2) [MIM:613955]
Q8NI17	IL31R_HUMAN	497	S	N	Polymorphism	-
Q8NI22	MCFD2_HUMAN	136	I	T	Disease	Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625]
Q8NI22	MCFD2_HUMAN	129	D	E	Disease	Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625]
Q8NI22	MCFD2_HUMAN	81	D	H	Disease	Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625]
Q8NI22	MCFD2_HUMAN	135	Y	N	Disease	Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625]
Q8NI27	THOC2_HUMAN	800	I	T	Disease	Mental retardation, X-linked 12 (MRX12) [MIM:300957]
Q8NI27	THOC2_HUMAN	438	L	P	Disease	Mental retardation, X-linked 12 (MRX12) [MIM:300957]
Q8NI27	THOC2_HUMAN	1012	S	P	Disease	Mental retardation, X-linked 12 (MRX12) [MIM:300957]
Q8NI27	THOC2_HUMAN	313	L	F	Disease	Mental retardation, X-linked 12 (MRX12) [MIM:300957]
Q8NI35	INADL_HUMAN	1282	R	H	Polymorphism	-
Q8NI35	INADL_HUMAN	1504	A	P	Polymorphism	-
Q8NI35	INADL_HUMAN	1178	G	S	Polymorphism	-
Q8NI35	INADL_HUMAN	599	Q	H	Polymorphism	-
Q8NI35	INADL_HUMAN	779	E	K	Polymorphism	-
Q8NI35	INADL_HUMAN	870	I	M	Polymorphism	-
Q8NI35	INADL_HUMAN	780	E	K	Polymorphism	-
Q8NI35	INADL_HUMAN	1360	V	L	Polymorphism	-
Q8NI35	INADL_HUMAN	362	E	A	Polymorphism	-
Q8NI35	INADL_HUMAN	744	C	R	Polymorphism	-
Q8NI35	INADL_HUMAN	303	G	R	Polymorphism	-
Q8NI35	INADL_HUMAN	400	I	V	Polymorphism	-
Q8NI36	WDR36_HUMAN	411	H	L	Unclassified	Glaucoma 1, open angle, G (GLC1G) [MIM:609887]
Q8NI36	WDR36_HUMAN	355	N	S	Disease	Glaucoma 1, open angle, G (GLC1G) [MIM:609887]
Q8NI36	WDR36_HUMAN	212	H	P	Polymorphism	-
Q8NI36	WDR36_HUMAN	449	A	T	Polymorphism	-
Q8NI36	WDR36_HUMAN	33	D	E	Polymorphism	-
Q8NI36	WDR36_HUMAN	97	Y	C	Unclassified	Glaucoma 1, open angle, G (GLC1G) [MIM:609887]
Q8NI36	WDR36_HUMAN	31	P	T	Polymorphism	-
Q8NI36	WDR36_HUMAN	25	L	P	Polymorphism	-
Q8NI36	WDR36_HUMAN	487	P	R	Unclassified	Glaucoma 1, open angle, G (GLC1G) [MIM:609887]
Q8NI36	WDR36_HUMAN	454	E	Q	Polymorphism	-
Q8NI36	WDR36_HUMAN	216	Y	P	Unclassified	Glaucoma 1, open angle, G (GLC1G) [MIM:609887]
Q8NI36	WDR36_HUMAN	411	H	Y	Unclassified	Glaucoma 1, open angle, G (GLC1G) [MIM:609887]
Q8NI36	WDR36_HUMAN	264	I	V	Polymorphism	-
Q8NI36	WDR36_HUMAN	403	T	A	Unclassified	Glaucoma 1, open angle, G (GLC1G) [MIM:609887]
Q8NI36	WDR36_HUMAN	529	R	Q	Disease	Glaucoma 1, open angle, G (GLC1G) [MIM:609887]
Q8NI36	WDR36_HUMAN	163	A	V	Polymorphism	-
Q8NI36	WDR36_HUMAN	658	D	G	Polymorphism	-
Q8NI36	WDR36_HUMAN	671	M	V	Polymorphism	-
Q8NI38	IKBD_HUMAN	29	V	A	Polymorphism	-
Q8NI51	CTCFL_HUMAN	50	E	Q	Polymorphism	-
Q8NI51	CTCFL_HUMAN	177	T	A	Polymorphism	-
Q8NI51	CTCFL_HUMAN	448	R	H	Polymorphism	-
Q8NI51	CTCFL_HUMAN	525	Q	E	Polymorphism	-
Q8NI60	COQ8A_HUMAN	429	Y	C	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	271	R	C	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	272	G	V	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	551	E	K	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	213	R	W	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	341	I	T	Polymorphism	-
Q8NI60	COQ8A_HUMAN	299	R	W	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	304	A	T	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	549	G	S	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	602	P	R	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	578	F	V	Unclassified	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	514	Y	C	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	304	A	V	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60	COQ8A_HUMAN	85	H	Q	Polymorphism	-
Q8NI60	COQ8A_HUMAN	272	G	D	Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI77	KI18A_HUMAN	735	I	V	Polymorphism	-
Q8NI77	KI18A_HUMAN	334	P	S	Polymorphism	-
Q8NI77	KI18A_HUMAN	273	T	A	Polymorphism	-
Q8TA86	RP9_HUMAN	210	K	R	Polymorphism	-
Q8TA86	RP9_HUMAN	170	D	G	Disease	Retinitis pigmentosa 9 (RP9) [MIM:180104]
Q8TA86	RP9_HUMAN	137	H	L	Disease	Retinitis pigmentosa 9 (RP9) [MIM:180104]
Q8TAA1	RNS11_HUMAN	5	P	S	Polymorphism	-
Q8TAA1	RNS11_HUMAN	74	T	S	Polymorphism	-
Q8TAA9	VANG1_HUMAN	404	A	S	Unclassified	Neural tube defects (NTD) [MIM:182940]
Q8TAA9	VANG1_HUMAN	202	L	F	Unclassified	Neural tube defects (NTD) [MIM:182940]
Q8TAA9	VANG1_HUMAN	468	D	E	Polymorphism	-
Q8TAA9	VANG1_HUMAN	290	Y	H	Polymorphism	-
Q8TAA9	VANG1_HUMAN	175	R	Q	Polymorphism	-
Q8TAA9	VANG1_HUMAN	181	R	Q	Unclassified	Neural tube defects (NTD) [MIM:182940]
Q8TAA9	VANG1_HUMAN	116	A	T	Polymorphism	-
Q8TAA9	VANG1_HUMAN	274	R	Q	Disease	Neural tube defects (NTD) [MIM:182940]
Q8TAA9	VANG1_HUMAN	25	E	K	Polymorphism	-
Q8TAA9	VANG1_HUMAN	153	F	S	Unclassified	Neural tube defects (NTD) [MIM:182940]
Q8TAA9	VANG1_HUMAN	251	T	M	Polymorphism	-
Q8TAA9	VANG1_HUMAN	239	V	I	Disease	Sacral defect with anterior meningocele (SDAM) [MIM:600145]
Q8TAA9	VANG1_HUMAN	347	E	A	Polymorphism	-
Q8TAA9	VANG1_HUMAN	83	S	L	Unclassified	Neural tube defects (NTD) [MIM:182940]
Q8TAA9	VANG1_HUMAN	328	M	T	Disease	Neural tube defects (NTD) [MIM:182940]
Q8TAB3	PCD19_HUMAN	404	T	I	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	153	A	T	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	230	D	N	Unclassified	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	206	F	C	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	414	E	Q	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	276	S	P	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	206	F	Y	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	1094	L	V	Polymorphism	-
Q8TAB3	PCD19_HUMAN	341	D	E	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	447	N	H	Disease	-
Q8TAB3	PCD19_HUMAN	146	T	R	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	190	L	R	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	25	L	P	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	1134	N	H	Polymorphism	-
Q8TAB3	PCD19_HUMAN	543	L	P	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	618	D	N	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	199	E	Q	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	203	H	P	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	81	L	R	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	958	R	Q	Polymorphism	-
Q8TAB3	PCD19_HUMAN	262	A	D	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	234	N	S	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	567	P	L	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	236	P	L	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	561	P	R	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	249	E	D	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	340	N	S	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	433	L	P	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	1107	R	G	Polymorphism	-
Q8TAB3	PCD19_HUMAN	191	V	L	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	377	D	H	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	642	V	M	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	557	N	K	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	441	V	E	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	121	D	N	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	513	G	R	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	377	D	E	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	980	R	C	Polymorphism	-
Q8TAB3	PCD19_HUMAN	232	N	S	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	344	P	R	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	236	P	S	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3	PCD19_HUMAN	1107	R	H	Polymorphism	-
Q8TAB3	PCD19_HUMAN	72	V	G	Disease	Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAD8	SNIP1_HUMAN	366	E	G	Disease	Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) [MIM:614501]
Q8TAE6	PP14C_HUMAN	10	T	A	Polymorphism	-
Q8TAF7	ZN461_HUMAN	87	N	S	Polymorphism	-
Q8TAF8	LHPL5_HUMAN	176	R	L	Disease	Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]
Q8TAF8	LHPL5_HUMAN	158	R	W	Disease	Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]
Q8TAF8	LHPL5_HUMAN	165	T	M	Disease	Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]
Q8TAF8	LHPL5_HUMAN	127	Y	C	Disease	Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]
Q8TAG5	VTM2A_HUMAN	84	E	K	Polymorphism	-
Q8TAG9	EXOC6_HUMAN	578	T	I	Polymorphism	-
Q8TAG9	EXOC6_HUMAN	396	T	I	Polymorphism	-
Q8TAG9	EXOC6_HUMAN	523	L	V	Polymorphism	-
Q8TAI1	TYMOS_HUMAN	62	R	G	Polymorphism	-
Q8TAK5	GABP2_HUMAN	62	V	I	Polymorphism	-
Q8TAL5	CI043_HUMAN	252	D	G	Polymorphism	-
Q8TAM1	BBS10_HUMAN	329	S	L	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	55	L	P	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	296	A	T	Unclassified	-
Q8TAM1	BBS10_HUMAN	311	S	A	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	91	C	W	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	410	H	Q	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	363	P	L	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	197	Y	C	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	539	P	L	Polymorphism	-
Q8TAM1	BBS10_HUMAN	376	L	F	Polymorphism	-
Q8TAM1	BBS10_HUMAN	240	V	G	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	195	C	W	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	414	L	S	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	715	H	R	Polymorphism	-
Q8TAM1	BBS10_HUMAN	188	K	T	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	34	R	P	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	11	V	G	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	689	T	P	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	613	Y	H	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	170	L	S	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	142	D	N	Polymorphism	-
Q8TAM1	BBS10_HUMAN	579	K	R	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	613	Y	C	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	600	L	S	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	636	A	V	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	255	M	I	Unclassified	-
Q8TAM1	BBS10_HUMAN	49	R	W	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	308	L	F	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	677	G	V	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAM1	BBS10_HUMAN	687	L	P	Disease	Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]
Q8TAP9	MPLKI_HUMAN	144	M	V	Disease	Trichothiodystrophy 4, non-photosensitive (TTD4) [MIM:234050]
Q8TAP9	MPLKI_HUMAN	29	G	E	Unclassified	A breast cancer sample
Q8TAQ9	SUN3_HUMAN	127	I	V	Polymorphism	-
Q8TAQ9	SUN3_HUMAN	177	L	V	Polymorphism	-
Q8TAS1	UHMK1_HUMAN	159	L	V	Polymorphism	-
Q8TAS1	UHMK1_HUMAN	197	Y	D	Polymorphism	-
Q8TAT2	FGFP3_HUMAN	107	A	T	Polymorphism	-
Q8TAT2	FGFP3_HUMAN	206	E	V	Polymorphism	-
Q8TAT5	NEIL3_HUMAN	346	I	V	Polymorphism	-
Q8TAT5	NEIL3_HUMAN	547	A	S	Polymorphism	-
Q8TAT5	NEIL3_HUMAN	443	P	L	Polymorphism	-
Q8TAT5	NEIL3_HUMAN	286	H	R	Polymorphism	-
Q8TAT5	NEIL3_HUMAN	38	R	C	Polymorphism	-
Q8TAT5	NEIL3_HUMAN	117	P	R	Polymorphism	-
Q8TAT5	NEIL3_HUMAN	471	Q	H	Polymorphism	-
Q8TAT5	NEIL3_HUMAN	76	V	M	Polymorphism	-
Q8TAT5	NEIL3_HUMAN	520	G	R	Polymorphism	-
Q8TAT5	NEIL3_HUMAN	172	Q	H	Polymorphism	-
Q8TAT5	NEIL3_HUMAN	556	H	R	Polymorphism	-
Q8TAU3	ZN417_HUMAN	495	N	S	Polymorphism	-
Q8TAV3	CP2W1_HUMAN	58	E	A	Polymorphism	-
Q8TAV3	CP2W1_HUMAN	432	V	I	Polymorphism	-
Q8TAV3	CP2W1_HUMAN	482	Q	H	Polymorphism	-
Q8TAV3	CP2W1_HUMAN	488	P	L	Polymorphism	-
Q8TAV3	CP2W1_HUMAN	181	A	T	Polymorphism	-
Q8TAW3	ZN671_HUMAN	237	P	S	Polymorphism	-
Q8TAW3	ZN671_HUMAN	149	A	V	Polymorphism	-
Q8TAX7	MUC7_HUMAN	80	N	K	Polymorphism	-
Q8TAX9	GSDMB_HUMAN	325	R	C	Polymorphism	-
Q8TAX9	GSDMB_HUMAN	306	P	S	Polymorphism	-
Q8TAX9	GSDMB_HUMAN	132	T	A	Polymorphism	-
Q8TAX9	GSDMB_HUMAN	299	G	R	Polymorphism	-
Q8TAX9	GSDMB_HUMAN	122	E	G	Polymorphism	-
Q8TAX9	GSDMB_HUMAN	245	D	G	Unclassified	A breast cancer sample
Q8TAY7	F110D_HUMAN	53	H	R	Polymorphism	-
Q8TAZ6	CKLF2_HUMAN	122	I	T	Polymorphism	-
Q8TB03	CX038_HUMAN	176	T	A	Polymorphism	-
Q8TB22	SPT20_HUMAN	483	S	T	Polymorphism	-
Q8TB22	SPT20_HUMAN	88	Q	E	Polymorphism	-
Q8TB22	SPT20_HUMAN	609	K	R	Polymorphism	-
Q8TB24	RIN3_HUMAN	613	G	A	Polymorphism	-
Q8TB24	RIN3_HUMAN	111	E	K	Polymorphism	-
Q8TB24	RIN3_HUMAN	215	H	R	Polymorphism	-
Q8TB24	RIN3_HUMAN	215	H	P	Polymorphism	-
Q8TB24	RIN3_HUMAN	425	T	M	Polymorphism	-
Q8TB24	RIN3_HUMAN	425	T	I	Polymorphism	-
Q8TB24	RIN3_HUMAN	215	H	L	Polymorphism	-
Q8TB36	GDAP1_HUMAN	161	R	H	Disease	Charcot-Marie-Tooth disease 4A (CMT4A) [MIM:214400]
Q8TB36	GDAP1_HUMAN	126	E	K	Unclassified	Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]
Q8TB36	GDAP1_HUMAN	226	R	S	Unclassified	Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]
Q8TB36	GDAP1_HUMAN	156	A	G	Disease	Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]
Q8TB36	GDAP1_HUMAN	123	H	R	Disease	Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]
Q8TB36	GDAP1_HUMAN	247	A	V	Unclassified	Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]
Q8TB36	GDAP1_HUMAN	310	R	W	Disease	Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]
Q8TB36	GDAP1_HUMAN	218	Q	E	Unclassified	Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]
Q8TB36	GDAP1_HUMAN	39	K	N	Unclassified	-
Q8TB36	GDAP1_HUMAN	120	R	Q	Disease	Charcot-Marie-Tooth disease 4A (CMT4A) [MIM:214400]
Q8TB36	GDAP1_HUMAN	310	R	Q	Disease	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) [MIM:607706]
Q8TB36	GDAP1_HUMAN	282	R	H	Disease	Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]
Q8TB36	GDAP1_HUMAN	256	H	R	Disease	Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]
Q8TB36	GDAP1_HUMAN	282	R	C	Disease	Charcot-Marie-Tooth disease, recessive, intermediate type, A (CMTRIA) [MIM:608340]
Q8TB36	GDAP1_HUMAN	120	R	W	Disease	Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]
Q8TB36	GDAP1_HUMAN	120	R	G	Disease	Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]
Q8TB37	NUBPL_HUMAN	56	G	R	Unclassified	-
Q8TB37	NUBPL_HUMAN	198	N	T	Polymorphism	-
Q8TB37	NUBPL_HUMAN	193	L	F	Disease	Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21) [MIM:618242]
Q8TB37	NUBPL_HUMAN	105	D	Y	Disease	Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21) [MIM:618242]
Q8TB45	DPTOR_HUMAN	389	S	N	Polymorphism	-
Q8TB45	DPTOR_HUMAN	148	N	S	Polymorphism	-
Q8TB45	DPTOR_HUMAN	204	N	S	Polymorphism	-
Q8TB52	FBX30_HUMAN	375	V	M	Polymorphism	-
Q8TB52	FBX30_HUMAN	583	H	Q	Polymorphism	-
Q8TB52	FBX30_HUMAN	8	S	C	Unclassified	A colorectal cancer sample
Q8TB52	FBX30_HUMAN	382	S	C	Polymorphism	-
Q8TB61	S35B2_HUMAN	342	L	V	Polymorphism	-
Q8TB68	PRR7_HUMAN	127	P	H	Polymorphism	-
Q8TB69	ZN519_HUMAN	89	G	S	Polymorphism	-
Q8TB69	ZN519_HUMAN	18	W	R	Polymorphism	-
Q8TB69	ZN519_HUMAN	229	R	I	Polymorphism	-
Q8TB69	ZN519_HUMAN	206	K	E	Polymorphism	-
Q8TB72	PUM2_HUMAN	367	N	S	Polymorphism	-
Q8TBA6	GOGA5_HUMAN	67	A	G	Polymorphism	-
Q8TBA6	GOGA5_HUMAN	486	M	V	Polymorphism	-
Q8TBB5	KLDC4_HUMAN	102	T	I	Polymorphism	-
Q8TBB5	KLDC4_HUMAN	155	L	V	Polymorphism	-
Q8TBB5	KLDC4_HUMAN	56	L	V	Polymorphism	-
Q8TBB5	KLDC4_HUMAN	130	G	V	Polymorphism	-
Q8TBB6	S7A14_HUMAN	209	N	S	Unclassified	Retinitis pigmentosa 68 (RP68) [MIM:615725]
Q8TBB6	S7A14_HUMAN	464	C	F	Disease	Retinitis pigmentosa 68 (RP68) [MIM:615725]
Q8TBB6	S7A14_HUMAN	695	R	C	Unclassified	Retinitis pigmentosa 68 (RP68) [MIM:615725]
Q8TBB6	S7A14_HUMAN	708	F	V	Disease	Retinitis pigmentosa 68 (RP68) [MIM:615725]
Q8TBB6	S7A14_HUMAN	330	G	R	Disease	Retinitis pigmentosa 68 (RP68) [MIM:615725]
Q8TBB6	S7A14_HUMAN	323	M	I	Unclassified	Retinitis pigmentosa 68 (RP68) [MIM:615725]
Q8TBB6	S7A14_HUMAN	132	A	V	Disease	Retinitis pigmentosa 68 (RP68) [MIM:615725]
Q8TBB6	S7A14_HUMAN	391	S	L	Unclassified	Retinitis pigmentosa 68 (RP68) [MIM:615725]
Q8TBC3	SHKB1_HUMAN	507	Q	L	Polymorphism	-
Q8TBC4	UBA3_HUMAN	9	K	R	Polymorphism	-
Q8TBC5	ZSC18_HUMAN	379	G	E	Polymorphism	-
Q8TBE0	BAHD1_HUMAN	26	E	G	Polymorphism	-
Q8TBE0	BAHD1_HUMAN	182	D	H	Polymorphism	-
Q8TBE0	BAHD1_HUMAN	298	Q	K	Polymorphism	-
Q8TBE3	FNDC9_HUMAN	138	V	I	Polymorphism	-
Q8TBE3	FNDC9_HUMAN	50	H	N	Polymorphism	-
Q8TBE3	FNDC9_HUMAN	166	P	A	Polymorphism	-
Q8TBE7	S35G2_HUMAN	400	K	R	Polymorphism	-
Q8TBF4	ZCRB1_HUMAN	131	P	Q	Polymorphism	-
Q8TBF5	PIGX_HUMAN	197	E	D	Polymorphism	-
Q8TBF5	PIGX_HUMAN	155	P	L	Polymorphism	-
Q8TBG4	AT2L1_HUMAN	185	S	P	Polymorphism	-
Q8TBH0	ARRD2_HUMAN	396	L	P	Polymorphism	-
Q8TBH0	ARRD2_HUMAN	244	A	T	Polymorphism	-
Q8TBH0	ARRD2_HUMAN	181	R	H	Polymorphism	-
Q8TBH0	ARRD2_HUMAN	192	R	H	Polymorphism	-
Q8TBJ5	FEZF2_HUMAN	164	P	T	Polymorphism	-
Q8TBJ5	FEZF2_HUMAN	250	S	W	Polymorphism	-
Q8TBJ5	FEZF2_HUMAN	188	G	D	Polymorphism	-
Q8TBK2	SETD6_HUMAN	445	A	V	Polymorphism	-
Q8TBK2	SETD6_HUMAN	340	D	N	Polymorphism	-
Q8TBK2	SETD6_HUMAN	206	R	G	Polymorphism	-
Q8TBK2	SETD6_HUMAN	185	R	S	Polymorphism	-
Q8TBK2	SETD6_HUMAN	426	T	A	Polymorphism	-
Q8TBN0	R3GEF_HUMAN	49	Q	R	Polymorphism	-
Q8TBN0	R3GEF_HUMAN	323	H	Y	Polymorphism	-
Q8TBP0	TBC16_HUMAN	476	E	K	Polymorphism	-
Q8TBP6	S2540_HUMAN	123	T	I	Polymorphism	-
Q8TBP6	S2540_HUMAN	105	S	N	Polymorphism	-
Q8TBP6	S2540_HUMAN	186	K	Q	Polymorphism	-
Q8TBR4	ST3L4_HUMAN	116	E	Q	Polymorphism	-
Q8TBX8	PI42C_HUMAN	300	A	G	Polymorphism	-
Q8TBX8	PI42C_HUMAN	241	K	R	Polymorphism	-
Q8TBX8	PI42C_HUMAN	84	V	A	Polymorphism	-
Q8TBY8	PMFBP_HUMAN	193	E	K	Polymorphism	-
Q8TBY8	PMFBP_HUMAN	172	A	T	Polymorphism	-
Q8TBY8	PMFBP_HUMAN	645	K	T	Polymorphism	-
Q8TBY8	PMFBP_HUMAN	650	T	K	Polymorphism	-
Q8TBY8	PMFBP_HUMAN	381	R	L	Polymorphism	-
Q8TBY8	PMFBP_HUMAN	913	K	N	Polymorphism	-
Q8TBY9	CF251_HUMAN	66	G	E	Polymorphism	-
Q8TBY9	CF251_HUMAN	61	E	G	Polymorphism	-
Q8TBY9	CF251_HUMAN	383	T	M	Polymorphism	-
Q8TBY9	CF251_HUMAN	445	L	F	Polymorphism	-
Q8TBZ0	CC110_HUMAN	819	L	M	Polymorphism	-
Q8TBZ0	CC110_HUMAN	817	S	L	Polymorphism	-
Q8TBZ0	CC110_HUMAN	500	Y	D	Polymorphism	-
Q8TBZ0	CC110_HUMAN	382	L	M	Polymorphism	-
Q8TBZ0	CC110_HUMAN	614	I	M	Polymorphism	-
Q8TBZ0	CC110_HUMAN	209	P	Q	Polymorphism	-
Q8TBZ0	CC110_HUMAN	669	Q	R	Polymorphism	-
Q8TBZ0	CC110_HUMAN	409	S	F	Polymorphism	-
Q8TBZ0	CC110_HUMAN	299	L	M	Polymorphism	-
Q8TBZ2	MYBPP_HUMAN	910	S	R	Polymorphism	-
Q8TBZ2	MYBPP_HUMAN	387	A	T	Polymorphism	-
Q8TBZ2	MYBPP_HUMAN	688	R	W	Polymorphism	-
Q8TBZ3	WDR20_HUMAN	444	G	C	Polymorphism	-
Q8TBZ3	WDR20_HUMAN	159	P	H	Polymorphism	-
Q8TBZ5	ZN502_HUMAN	28	L	P	Polymorphism	-
Q8TBZ5	ZN502_HUMAN	174	Q	R	Polymorphism	-
Q8TBZ5	ZN502_HUMAN	243	E	A	Polymorphism	-
Q8TBZ6	TM10A_HUMAN	206	G	R	Disease	Microcephaly, short stature, and impaired glucose metabolism 1 (MSSGM1) [MIM:616033]
Q8TBZ6	TM10A_HUMAN	82	P	Q	Unclassified	A breast cancer sample
Q8TBZ6	TM10A_HUMAN	133	R	Q	Polymorphism	-
Q8TBZ9	TEX47_HUMAN	48	D	H	Polymorphism	-
Q8TBZ9	TEX47_HUMAN	126	I	V	Polymorphism	-
Q8TBZ9	TEX47_HUMAN	221	E	A	Polymorphism	-
Q8TBZ9	TEX47_HUMAN	221	E	K	Polymorphism	-
Q8TBZ9	TEX47_HUMAN	186	C	S	Polymorphism	-
Q8TC05	MDM1_HUMAN	489	R	H	Polymorphism	-
Q8TC05	MDM1_HUMAN	552	P	L	Polymorphism	-
Q8TC05	MDM1_HUMAN	103	T	I	Polymorphism	-
Q8TC05	MDM1_HUMAN	383	V	I	Polymorphism	-
Q8TC20	CAGE1_HUMAN	282	E	A	Polymorphism	-
Q8TC20	CAGE1_HUMAN	169	T	I	Polymorphism	-
Q8TC21	ZN596_HUMAN	136	T	K	Polymorphism	-
Q8TC21	ZN596_HUMAN	476	V	G	Polymorphism	-
Q8TC27	ADA32_HUMAN	160	S	G	Polymorphism	-
Q8TC27	ADA32_HUMAN	327	L	V	Polymorphism	-
Q8TC27	ADA32_HUMAN	467	T	S	Polymorphism	-
Q8TC27	ADA32_HUMAN	98	Q	R	Polymorphism	-
Q8TC27	ADA32_HUMAN	778	D	E	Polymorphism	-
Q8TC27	ADA32_HUMAN	658	K	N	Polymorphism	-
Q8TC36	SUN5_HUMAN	174	A	T	Polymorphism	-
Q8TC36	SUN5_HUMAN	348	N	I	Disease	Spermatogenic failure 16 (SPGF16) [MIM:617187]
Q8TC36	SUN5_HUMAN	261	V	M	Unclassified	Spermatogenic failure 16 (SPGF16) [MIM:617187]
Q8TC36	SUN5_HUMAN	275	T	M	Disease	Spermatogenic failure 16 (SPGF16) [MIM:617187]
Q8TC36	SUN5_HUMAN	114	G	R	Disease	Spermatogenic failure 16 (SPGF16) [MIM:617187]
Q8TC36	SUN5_HUMAN	39	E	D	Polymorphism	-
Q8TC36	SUN5_HUMAN	356	R	C	Unclassified	Spermatogenic failure 16 (SPGF16) [MIM:617187]
Q8TC36	SUN5_HUMAN	120	I	V	Polymorphism	-
Q8TC36	SUN5_HUMAN	16	E	K	Polymorphism	-
Q8TC36	SUN5_HUMAN	162	M	K	Unclassified	Spermatogenic failure 16 (SPGF16) [MIM:617187]
Q8TC41	RN217_HUMAN	381	V	I	Polymorphism	-
Q8TC44	POC1B_HUMAN	106	R	P	Disease	Cone-rod dystrophy 20 (CORD20) [MIM:615973]
Q8TC56	FA71B_HUMAN	543	A	V	Polymorphism	-
Q8TC56	FA71B_HUMAN	564	M	T	Polymorphism	-
Q8TC56	FA71B_HUMAN	599	V	I	Polymorphism	-
Q8TC57	M1AP_HUMAN	195	T	P	Polymorphism	-
Q8TC57	M1AP_HUMAN	5	R	Q	Polymorphism	-
Q8TC71	MIEAP_HUMAN	227	S	P	Polymorphism	-
Q8TC71	MIEAP_HUMAN	483	K	R	Polymorphism	-
Q8TC76	F110B_HUMAN	214	A	S	Unclassified	A colorectal cancer sample
Q8TC84	FANK1_HUMAN	329	L	V	Polymorphism	-
Q8TC84	FANK1_HUMAN	12	P	L	Polymorphism	-
Q8TC84	FANK1_HUMAN	46	R	S	Polymorphism	-
Q8TC84	FANK1_HUMAN	343	C	F	Polymorphism	-
Q8TC90	CCER1_HUMAN	286	D	E	Polymorphism	-
Q8TC90	CCER1_HUMAN	379	I	M	Polymorphism	-
Q8TC92	ENOX1_HUMAN	16	E	D	Polymorphism	-
Q8TC94	ACTL9_HUMAN	332	A	T	Unclassified	A colorectal cancer sample
Q8TC94	ACTL9_HUMAN	37	F	S	Polymorphism	-
Q8TC94	ACTL9_HUMAN	42	A	D	Unclassified	A colorectal cancer sample
Q8TC94	ACTL9_HUMAN	227	H	N	Polymorphism	-
Q8TC94	ACTL9_HUMAN	51	V	A	Polymorphism	-
Q8TC99	FNDC8_HUMAN	127	A	T	Polymorphism	-
Q8TC99	FNDC8_HUMAN	36	S	P	Polymorphism	-
Q8TCB0	IFI44_HUMAN	9	W	R	Polymorphism	-
Q8TCB6	O51E1_HUMAN	9	S	N	Polymorphism	-
Q8TCB6	O51E1_HUMAN	10	S	N	Polymorphism	-
Q8TCC3	RM30_HUMAN	130	A	T	Polymorphism	-
Q8TCC7	S22A8_HUMAN	149	R	S	Polymorphism	-
Q8TCC7	S22A8_HUMAN	281	V	A	Polymorphism	-
Q8TCC7	S22A8_HUMAN	277	R	W	Polymorphism	-
Q8TCC7	S22A8_HUMAN	389	A	V	Polymorphism	-
Q8TCC7	S22A8_HUMAN	448	V	I	Polymorphism	-
Q8TCC7	S22A8_HUMAN	129	F	L	Polymorphism	-
Q8TCC7	S22A8_HUMAN	260	I	R	Polymorphism	-
Q8TCC7	S22A8_HUMAN	305	I	F	Polymorphism	-
Q8TCD1	CR032_HUMAN	37	P	H	Polymorphism	-
Q8TCD5	NT5C_HUMAN	68	P	L	Polymorphism	-
Q8TCD6	PHOP2_HUMAN	206	K	E	Polymorphism	-
Q8TCE9	PPL13_HUMAN	67	C	R	Polymorphism	-
Q8TCE9	PPL13_HUMAN	127	F	L	Polymorphism	-
Q8TCG1	CIP2A_HUMAN	126	K	R	Polymorphism	-
Q8TCG1	CIP2A_HUMAN	447	T	A	Polymorphism	-
Q8TCG1	CIP2A_HUMAN	229	R	Q	Polymorphism	-
Q8TCG1	CIP2A_HUMAN	680	R	T	Polymorphism	-
Q8TCG1	CIP2A_HUMAN	409	T	I	Polymorphism	-
Q8TCG1	CIP2A_HUMAN	494	P	L	Polymorphism	-
Q8TCG1	CIP2A_HUMAN	759	I	V	Polymorphism	-
Q8TCG1	CIP2A_HUMAN	572	S	A	Polymorphism	-
Q8TCG2	P4K2B_HUMAN	78	S	P	Polymorphism	-
Q8TCG5	CPT1C_HUMAN	37	R	C	Disease	Spastic paraplegia 73, autosomal dominant (SPG73) [MIM:616282]
Q8TCI5	PIFO_HUMAN	97	K	N	Polymorphism	-
Q8TCI5	PIFO_HUMAN	80	R	K	Polymorphism	-
Q8TCI5	PIFO_HUMAN	105	H	N	Polymorphism	-
Q8TCJ0	FBX25_HUMAN	38	R	H	Polymorphism	-
Q8TCJ0	FBX25_HUMAN	36	N	D	Polymorphism	-
Q8TCS8	PNPT1_HUMAN	590	N	D	Polymorphism	-
Q8TCS8	PNPT1_HUMAN	121	I	V	Polymorphism	-
Q8TCS8	PNPT1_HUMAN	230	E	Q	Polymorphism	-
Q8TCS8	PNPT1_HUMAN	475	E	G	Disease	Deafness, autosomal recessive, 70 (DFNB70) [MIM:614934]
Q8TCS8	PNPT1_HUMAN	387	Q	R	Disease	Combined oxidative phosphorylation deficiency 13 (COXPD13) [MIM:614932]
Q8TCT0	CERK1_HUMAN	191	I	V	Polymorphism	-
Q8TCT0	CERK1_HUMAN	211	T	M	Polymorphism	-
Q8TCT0	CERK1_HUMAN	306	L	F	Polymorphism	-
Q8TCT7	SPP2B_HUMAN	574	S	P	Polymorphism	-
Q8TCT8	SPP2A_HUMAN	90	V	I	Polymorphism	-
Q8TCT9	HM13_HUMAN	259	A	P	Polymorphism	-
Q8TCU3	S7A13_HUMAN	249	V	M	Polymorphism	-
Q8TCU3	S7A13_HUMAN	380	R	K	Polymorphism	-
Q8TCU3	S7A13_HUMAN	452	M	T	Polymorphism	-
Q8TCU3	S7A13_HUMAN	470	E	K	Polymorphism	-
Q8TCU4	ALMS1_HUMAN	2857	N	S	Polymorphism	-
Q8TCU4	ALMS1_HUMAN	2673	D	H	Polymorphism	-
Q8TCU4	ALMS1_HUMAN	2285	R	P	Polymorphism	-
Q8TCU4	ALMS1_HUMAN	3435	K	E	Polymorphism	-
Q8TCU4	ALMS1_HUMAN	1876	I	V	Polymorphism	-
Q8TCU4	ALMS1_HUMAN	2112	S	R	Polymorphism	-
Q8TCU4	ALMS1_HUMAN	2575	S	N	Polymorphism	-
Q8TCU4	ALMS1_HUMAN	672	V	G	Polymorphism	-
Q8TCU4	ALMS1_HUMAN	1413	G	A	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	373	G	R	Unclassified	-
Q8TCU5	NMD3A_HUMAN	586	K	N	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	793	R	S	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	375	I	T	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	641	V	L	Unclassified	-
Q8TCU5	NMD3A_HUMAN	362	V	M	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	116	G	S	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	835	D	N	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	111	R	G	Unclassified	-
Q8TCU5	NMD3A_HUMAN	434	S	P	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	956	Y	H	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	1041	R	Q	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	565	N	S	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	72	S	I	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	337	R	W	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	487	G	R	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	921	T	M	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	493	Y	F	Polymorphism	-
Q8TCU5	NMD3A_HUMAN	1028	I	N	Unclassified	-
Q8TCU5	NMD3A_HUMAN	480	R	H	Polymorphism	-
Q8TCU6	PREX1_HUMAN	1559	S	T	Polymorphism	-
Q8TCU6	PREX1_HUMAN	1240	V	I	Polymorphism	-
Q8TCU6	PREX1_HUMAN	696	R	C	Polymorphism	-
Q8TCU6	PREX1_HUMAN	1340	K	E	Polymorphism	-
Q8TCU6	PREX1_HUMAN	659	V	M	Polymorphism	-
Q8TCU6	PREX1_HUMAN	786	Q	H	Polymorphism	-
Q8TCU6	PREX1_HUMAN	1118	A	T	Polymorphism	-
Q8TCV5	WFDC5_HUMAN	97	H	Y	Polymorphism	-
Q8TCW7	ZPLD1_HUMAN	197	T	A	Polymorphism	-
Q8TCW7	ZPLD1_HUMAN	29	N	S	Polymorphism	-
Q8TCW7	ZPLD1_HUMAN	12	I	F	Polymorphism	-
Q8TCW9	PKR1_HUMAN	40	S	G	Polymorphism	-
Q8TCX1	DC2L1_HUMAN	220	T	I	Disease	Short-rib thoracic dysplasia 15 with polydactyly (SRTD15) [MIM:617088]
Q8TCX1	DC2L1_HUMAN	117	L	V	Disease	Short-rib thoracic dysplasia 15 with polydactyly (SRTD15) [MIM:617088]
Q8TCX1	DC2L1_HUMAN	230	I	L	Polymorphism	-
Q8TCX1	DC2L1_HUMAN	58	P	S	Polymorphism	-
Q8TCX1	DC2L1_HUMAN	33	F	S	Polymorphism	-
Q8TCY9	URGCP_HUMAN	697	T	A	Polymorphism	-
Q8TCY9	URGCP_HUMAN	756	L	F	Polymorphism	-
Q8TCY9	URGCP_HUMAN	779	M	L	Polymorphism	-
Q8TD07	RAE1E_HUMAN	128	R	H	Polymorphism	-
Q8TD07	RAE1E_HUMAN	237	V	L	Polymorphism	-
Q8TD07	RAE1E_HUMAN	141	A	T	Polymorphism	-
Q8TD07	RAE1E_HUMAN	12	R	H	Polymorphism	-
Q8TD07	RAE1E_HUMAN	142	T	I	Polymorphism	-
Q8TD07	RAE1E_HUMAN	82	Y	N	Polymorphism	-
Q8TD07	RAE1E_HUMAN	194	R	G	Polymorphism	-
Q8TD08	MK15_HUMAN	221	T	K	Polymorphism	-
Q8TD08	MK15_HUMAN	505	S	P	Polymorphism	-
Q8TD10	MIPO1_HUMAN	141	Q	L	Polymorphism	-
Q8TD16	BICD2_HUMAN	542	C	W	Disease	Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant (SMALED2B) [MIM:618291]
Q8TD16	BICD2_HUMAN	694	R	C	Disease	Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant (SMALED2B) [MIM:618291]
Q8TD16	BICD2_HUMAN	501	R	P	Disease	Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
Q8TD16	BICD2_HUMAN	194	Q	R	Disease	Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant (SMALED2B) [MIM:618291]
Q8TD16	BICD2_HUMAN	703	T	M	Disease	Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
Q8TD16	BICD2_HUMAN	508	K	T	Disease	Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
Q8TD16	BICD2_HUMAN	90	K	R	Polymorphism	-
Q8TD16	BICD2_HUMAN	189	I	F	Disease	Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
Q8TD16	BICD2_HUMAN	107	S	L	Disease	Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
Q8TD16	BICD2_HUMAN	188	N	T	Disease	Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
Q8TD16	BICD2_HUMAN	774	E	G	Disease	Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290]
Q8TD17	ZN398_HUMAN	87	E	D	Polymorphism	-
Q8TD17	ZN398_HUMAN	294	S	L	Polymorphism	-
Q8TD19	NEK9_HUMAN	681	R	H	Disease	Arthrogryposis, Perthes disease, and upward gaze palsy (APUG) [MIM:614262]
Q8TD19	NEK9_HUMAN	429	R	H	Polymorphism	-
Q8TD19	NEK9_HUMAN	573	I	T	Disease	Nevus comedonicus (NC) [MIM:617025]
Q8TD19	NEK9_HUMAN	870	P	S	Unclassified	A lung neuroendocrine carcinoma sample
Q8TD19	NEK9_HUMAN	167	I	T	Disease	Nevus comedonicus (NC) [MIM:617025]
Q8TD19	NEK9_HUMAN	828	P	T	Polymorphism	-
Q8TD23	ZN675_HUMAN	410	A	T	Polymorphism	-
Q8TD23	ZN675_HUMAN	124	L	V	Polymorphism	-
Q8TD23	ZN675_HUMAN	197	V	A	Polymorphism	-
Q8TD26	CHD6_HUMAN	2161	H	Q	Polymorphism	-
Q8TD26	CHD6_HUMAN	780	Q	H	Polymorphism	-
Q8TD30	ALAT2_HUMAN	153	S	R	Disease	Mental retardation, autosomal recessive 49 (MRT49) [MIM:616281]
Q8TD31	CCHCR_HUMAN	639	Q	H	Polymorphism	-
Q8TD31	CCHCR_HUMAN	733	A	V	Polymorphism	-
Q8TD31	CCHCR_HUMAN	103	R	W	Polymorphism	-
Q8TD31	CCHCR_HUMAN	164	S	R	Polymorphism	-
Q8TD31	CCHCR_HUMAN	179	L	Q	Polymorphism	-
Q8TD31	CCHCR_HUMAN	776	S	C	Polymorphism	-
Q8TD31	CCHCR_HUMAN	575	G	C	Polymorphism	-
Q8TD31	CCHCR_HUMAN	109	R	W	Polymorphism	-
Q8TD31	CCHCR_HUMAN	275	E	D	Polymorphism	-
Q8TD31	CCHCR_HUMAN	367	A	T	Polymorphism	-
Q8TD31	CCHCR_HUMAN	417	R	W	Polymorphism	-
Q8TD31	CCHCR_HUMAN	102	R	Q	Polymorphism	-
Q8TD31	CCHCR_HUMAN	627	R	Q	Polymorphism	-
Q8TD31	CCHCR_HUMAN	417	R	Q	Polymorphism	-
Q8TD31	CCHCR_HUMAN	546	K	R	Polymorphism	-
Q8TD33	SG1C1_HUMAN	70	I	R	Polymorphism	-
Q8TD35	LKAM1_HUMAN	9	G	W	Polymorphism	-
Q8TD35	LKAM1_HUMAN	85	E	D	Polymorphism	-
Q8TD43	TRPM4_HUMAN	854	Q	R	Polymorphism	-
Q8TD43	TRPM4_HUMAN	164	R	W	Disease	Progressive familial heart block 1B (PFHB1B) [MIM:604559]
Q8TD43	TRPM4_HUMAN	914	K	R	Disease	Progressive familial heart block 1B (PFHB1B) [MIM:604559]
Q8TD43	TRPM4_HUMAN	252	R	H	Polymorphism	-
Q8TD43	TRPM4_HUMAN	790	Y	H	Disease	Progressive familial heart block 1B (PFHB1B) [MIM:604559]
Q8TD43	TRPM4_HUMAN	103	Y	C	Polymorphism	-
Q8TD43	TRPM4_HUMAN	101	A	T	Polymorphism	-
Q8TD43	TRPM4_HUMAN	293	Q	R	Disease	Progressive familial heart block 1B (PFHB1B) [MIM:604559]
Q8TD43	TRPM4_HUMAN	561	D	A	Polymorphism	-
Q8TD43	TRPM4_HUMAN	582	G	S	Disease	Progressive familial heart block 1B (PFHB1B) [MIM:604559]
Q8TD43	TRPM4_HUMAN	131	Q	H	Disease	Progressive familial heart block 1B (PFHB1B) [MIM:604559]
Q8TD43	TRPM4_HUMAN	844	G	D	Disease	Progressive familial heart block 1B (PFHB1B) [MIM:604559]
Q8TD43	TRPM4_HUMAN	1204	P	L	Polymorphism	-
Q8TD43	TRPM4_HUMAN	7	E	K	Disease	Progressive familial heart block 1B (PFHB1B) [MIM:604559]
Q8TD43	TRPM4_HUMAN	432	A	T	Disease	Progressive familial heart block 1B (PFHB1B) [MIM:604559]
Q8TD43	TRPM4_HUMAN	970	P	S	Disease	Progressive familial heart block 1B (PFHB1B) [MIM:604559]
Q8TD46	MO2R1_HUMAN	89	R	K	Polymorphism	-
Q8TD46	MO2R1_HUMAN	177	Q	H	Polymorphism	-
Q8TD46	MO2R1_HUMAN	312	E	Q	Polymorphism	-
Q8TD46	MO2R1_HUMAN	121	P	T	Polymorphism	-
Q8TD55	PKHO2_HUMAN	290	P	S	Polymorphism	-
Q8TD57	DYH3_HUMAN	3744	R	W	Polymorphism	-
Q8TD57	DYH3_HUMAN	3645	R	C	Polymorphism	-
Q8TD57	DYH3_HUMAN	484	I	L	Unclassified	A colorectal cancer sample
Q8TD57	DYH3_HUMAN	3457	E	K	Polymorphism	-
Q8TD57	DYH3_HUMAN	1608	S	F	Unclassified	A colorectal cancer sample
Q8TD57	DYH3_HUMAN	2399	I	N	Polymorphism	-
Q8TD57	DYH3_HUMAN	1565	I	M	Polymorphism	-
Q8TD57	DYH3_HUMAN	2949	K	T	Polymorphism	-
Q8TD57	DYH3_HUMAN	1583	V	I	Polymorphism	-
Q8TD57	DYH3_HUMAN	3639	L	I	Polymorphism	-
Q8TD57	DYH3_HUMAN	545	R	W	Polymorphism	-
Q8TD57	DYH3_HUMAN	2804	I	V	Polymorphism	-
Q8TD57	DYH3_HUMAN	1752	T	M	Polymorphism	-
Q8TD84	DSCL1_HUMAN	659	V	I	Unclassified	A colorectal cancer sample
Q8TD84	DSCL1_HUMAN	1702	V	I	Unclassified	A colorectal cancer sample
Q8TD86	CALL6_HUMAN	60	W	R	Polymorphism	-
Q8TD90	MAGE2_HUMAN	291	G	C	Polymorphism	-
Q8TD91	MAGC3_HUMAN	328	A	T	Polymorphism	-
Q8TD91	MAGC3_HUMAN	165	L	M	Polymorphism	-
Q8TD91	MAGC3_HUMAN	307	A	T	Polymorphism	-
Q8TD91	MAGC3_HUMAN	155	S	P	Polymorphism	-
Q8TD94	KLF14_HUMAN	173	A	P	Polymorphism	-
Q8TDB4	HUMMR_HUMAN	128	A	T	Polymorphism	-
Q8TDB6	DTX3L_HUMAN	209	K	N	Unclassified	A breast cancer sample
Q8TDB6	DTX3L_HUMAN	425	R	K	Polymorphism	-
Q8TDB6	DTX3L_HUMAN	668	K	M	Polymorphism	-
Q8TDB8	GTR14_HUMAN	506	G	E	Polymorphism	-
Q8TDC0	MYOZ3_HUMAN	161	S	P	Polymorphism	-
Q8TDC0	MYOZ3_HUMAN	209	T	N	Polymorphism	-
Q8TDC3	BRSK1_HUMAN	303	R	W	Unclassified	A gastric adenocarcinoma sample
Q8TDC3	BRSK1_HUMAN	391	G	E	Unclassified	A metastatic melanoma sample
Q8TDC3	BRSK1_HUMAN	531	T	N	Polymorphism	-
Q8TDC3	BRSK1_HUMAN	749	G	S	Polymorphism	-
Q8TDC3	BRSK1_HUMAN	764	P	A	Polymorphism	-
Q8TDC3	BRSK1_HUMAN	319	V	I	Unclassified	A lung large cell carcinoma sample
Q8TDD1	DDX54_HUMAN	693	R	Q	Polymorphism	-
Q8TDD1	DDX54_HUMAN	821	P	L	Polymorphism	-
Q8TDD1	DDX54_HUMAN	712	V	A	Polymorphism	-
Q8TDD1	DDX54_HUMAN	570	R	H	Polymorphism	-
Q8TDE3	RNAS8_HUMAN	10	P	S	Polymorphism	-
Q8TDF5	NETO1_HUMAN	487	A	G	Polymorphism	-
Q8TDF5	NETO1_HUMAN	481	S	N	Polymorphism	-
Q8TDF6	GRP4_HUMAN	18	I	T	Polymorphism	-
Q8TDF6	GRP4_HUMAN	335	R	G	Polymorphism	-
Q8TDF6	GRP4_HUMAN	145	V	A	Polymorphism	-
Q8TDF6	GRP4_HUMAN	261	R	C	Polymorphism	-
Q8TDF6	GRP4_HUMAN	620	E	K	Polymorphism	-
Q8TDF6	GRP4_HUMAN	120	Q	L	Polymorphism	-
Q8TDG2	ACTT1_HUMAN	124	E	K	Unclassified	-
Q8TDG4	HELQ_HUMAN	565	D	N	Unclassified	A breast cancer sample
Q8TDG4	HELQ_HUMAN	235	L	P	Polymorphism	-
Q8TDG4	HELQ_HUMAN	35	V	E	Polymorphism	-
Q8TDG4	HELQ_HUMAN	1094	V	M	Polymorphism	-
Q8TDG4	HELQ_HUMAN	585	P	S	Polymorphism	-
Q8TDI0	CHD5_HUMAN	667	R	G	Unclassified	A breast cancer sample
Q8TDI0	CHD5_HUMAN	119	D	N	Unclassified	A breast cancer sample
Q8TDI0	CHD5_HUMAN	1539	S	P	Polymorphism	-
Q8TDI0	CHD5_HUMAN	1253	S	I	Polymorphism	-
Q8TDI0	CHD5_HUMAN	45	V	M	Unclassified	A breast cancer sample
Q8TDI7	TMC2_HUMAN	816	E	Q	Polymorphism	-
Q8TDI7	TMC2_HUMAN	589	S	C	Polymorphism	-
Q8TDI7	TMC2_HUMAN	205	Q	R	Polymorphism	-
Q8TDI7	TMC2_HUMAN	800	E	Q	Polymorphism	-
Q8TDI7	TMC2_HUMAN	217	W	R	Polymorphism	-
Q8TDI7	TMC2_HUMAN	123	R	K	Polymorphism	-
Q8TDI7	TMC2_HUMAN	573	S	C	Polymorphism	-
Q8TDI8	TMC1_HUMAN	141	R	W	Polymorphism	-
Q8TDI8	TMC1_HUMAN	81	E	K	Polymorphism	-
Q8TDI8	TMC1_HUMAN	572	D	N	Disease	Deafness, autosomal dominant, 36 (DFNA36) [MIM:606705]
Q8TDI8	TMC1_HUMAN	486	M	T	Polymorphism	-
Q8TDI8	TMC1_HUMAN	654	M	V	Disease	Deafness, autosomal recessive, 7 (DFNB7) [MIM:600974]
Q8TDJ6	DMXL2_HUMAN	144	E	Q	Polymorphism	-
Q8TDJ6	DMXL2_HUMAN	2417	R	H	Disease	Deafness, autosomal dominant, 71 (DFNA71) [MIM:617605]
Q8TDJ6	DMXL2_HUMAN	903	N	D	Polymorphism	-
Q8TDJ6	DMXL2_HUMAN	1481	D	G	Polymorphism	-
Q8TDJ6	DMXL2_HUMAN	1698	N	S	Polymorphism	-
Q8TDJ6	DMXL2_HUMAN	497	T	M	Polymorphism	-
Q8TDJ6	DMXL2_HUMAN	1288	S	P	Polymorphism	-
Q8TDL5	BPIB1_HUMAN	84	I	V	Polymorphism	-
Q8TDL5	BPIB1_HUMAN	298	S	P	Polymorphism	-
Q8TDL5	BPIB1_HUMAN	287	D	H	Polymorphism	-
Q8TDL5	BPIB1_HUMAN	140	T	A	Polymorphism	-
Q8TDL5	BPIB1_HUMAN	313	S	I	Polymorphism	-
Q8TDL5	BPIB1_HUMAN	464	T	S	Polymorphism	-
Q8TDL5	BPIB1_HUMAN	479	S	T	Polymorphism	-
Q8TDL5	BPIB1_HUMAN	284	V	M	Polymorphism	-
Q8TDM0	BCAS4_HUMAN	56	E	D	Polymorphism	-
Q8TDM0	BCAS4_HUMAN	173	R	H	Polymorphism	-
Q8TDM6	DLG5_HUMAN	1600	A	V	Polymorphism	-
Q8TDM6	DLG5_HUMAN	1481	P	Q	Polymorphism	-
Q8TDM6	DLG5_HUMAN	140	Q	R	Polymorphism	-
Q8TDN1	KCNG4_HUMAN	325	G	R	Polymorphism	-
Q8TDN1	KCNG4_HUMAN	206	R	W	Polymorphism	-
Q8TDN1	KCNG4_HUMAN	8	G	W	Polymorphism	-
Q8TDN1	KCNG4_HUMAN	427	R	H	Polymorphism	-
Q8TDN1	KCNG4_HUMAN	321	E	K	Polymorphism	-
Q8TDN1	KCNG4_HUMAN	255	C	Y	Polymorphism	-
Q8TDN2	KCNV2_HUMAN	256	S	W	Disease	Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
Q8TDN2	KCNV2_HUMAN	459	G	D	Disease	Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
Q8TDN2	KCNV2_HUMAN	259	A	V	Disease	Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
Q8TDN2	KCNV2_HUMAN	126	L	Q	Disease	Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
Q8TDN2	KCNV2_HUMAN	188	W	C	Disease	Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
Q8TDN2	KCNV2_HUMAN	533	L	V	Polymorphism	-
Q8TDP1	RNH2C_HUMAN	138	P	L	Disease	Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329]
Q8TDP1	RNH2C_HUMAN	143	K	I	Disease	Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329]
Q8TDP1	RNH2C_HUMAN	76	P	L	Disease	Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329]
Q8TDP1	RNH2C_HUMAN	39	D	Y	Disease	Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329]
Q8TDP1	RNH2C_HUMAN	69	R	W	Disease	Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329]
Q8TDP1	RNH2C_HUMAN	151	P	S	Disease	Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329]
Q8TDP1	RNH2C_HUMAN	13	R	H	Disease	Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329]
Q8TDQ0	HAVR2_HUMAN	140	R	L	Polymorphism	-
Q8TDQ1	CLM1_HUMAN	19	V	A	Polymorphism	-
Q8TDQ1	CLM1_HUMAN	218	Q	R	Polymorphism	-
Q8TDQ7	GNPI2_HUMAN	182	P	S	Polymorphism	-
Q8TDR0	MIPT3_HUMAN	520	M	R	Disease	Senior-Loken syndrome 9 (SLSN9) [MIM:616629]
Q8TDR0	MIPT3_HUMAN	228	N	S	Polymorphism	-
Q8TDR0	MIPT3_HUMAN	416	T	S	Polymorphism	-
Q8TDR0	MIPT3_HUMAN	620	M	L	Polymorphism	-
Q8TDR0	MIPT3_HUMAN	295	K	N	Polymorphism	-
Q8TDR0	MIPT3_HUMAN	17	I	S	Disease	Senior-Loken syndrome 9 (SLSN9) [MIM:616629]
Q8TDR0	MIPT3_HUMAN	125	V	M	Disease	Senior-Loken syndrome 9 (SLSN9) [MIM:616629]
Q8TDR0	MIPT3_HUMAN	125	V	A	Disease	Senior-Loken syndrome 9 (SLSN9) [MIM:616629]
Q8TDR0	MIPT3_HUMAN	239	R	W	Polymorphism	-
Q8TDR4	TCP1L_HUMAN	145	H	R	Polymorphism	-
Q8TDR4	TCP1L_HUMAN	194	R	H	Polymorphism	-
Q8TDS4	HCAR2_HUMAN	311	R	C	Polymorphism	-
Q8TDS4	HCAR2_HUMAN	187	Q	R	Polymorphism	-
Q8TDS4	HCAR2_HUMAN	317	M	I	Polymorphism	-
Q8TDS4	HCAR2_HUMAN	198	F	L	Polymorphism	-
Q8TDS5	OXER1_HUMAN	316	M	L	Polymorphism	-
Q8TDS5	OXER1_HUMAN	407	L	V	Polymorphism	-
Q8TDT2	GP152_HUMAN	317	L	V	Polymorphism	-
Q8TDU9	RL3R2_HUMAN	329	L	S	Polymorphism	-
Q8TDV0	GP151_HUMAN	144	A	V	Polymorphism	-
Q8TDV0	GP151_HUMAN	40	P	L	Polymorphism	-
Q8TDV0	GP151_HUMAN	261	L	V	Polymorphism	-
Q8TDV2	GP148_HUMAN	317	T	P	Polymorphism	-
Q8TDV5	GP119_HUMAN	309	S	L	Polymorphism	-
Q8TDW0	LRC8C_HUMAN	800	M	I	Polymorphism	-
Q8TDW0	LRC8C_HUMAN	205	D	G	Polymorphism	-
Q8TDW0	LRC8C_HUMAN	468	N	S	Polymorphism	-
Q8TDW4	ST7L_HUMAN	571	G	D	Polymorphism	-
Q8TDW4	ST7L_HUMAN	451	R	Q	Polymorphism	-
Q8TDW4	ST7L_HUMAN	455	A	T	Polymorphism	-
Q8TDW5	SYTL5_HUMAN	302	R	C	Polymorphism	-
Q8TDW5	SYTL5_HUMAN	275	I	V	Polymorphism	-
Q8TDW7	FAT3_HUMAN	3812	S	G	Polymorphism	-
Q8TDW7	FAT3_HUMAN	3518	V	L	Polymorphism	-
Q8TDW7	FAT3_HUMAN	1726	Q	R	Polymorphism	-
Q8TDW7	FAT3_HUMAN	2293	N	S	Polymorphism	-
Q8TDW7	FAT3_HUMAN	462	I	V	Polymorphism	-
Q8TDW7	FAT3_HUMAN	2622	V	F	Polymorphism	-
Q8TDW7	FAT3_HUMAN	412	S	F	Polymorphism	-
Q8TDW7	FAT3_HUMAN	1167	V	G	Polymorphism	-
Q8TDW7	FAT3_HUMAN	2755	I	V	Polymorphism	-
Q8TDX6	CGAT1_HUMAN	384	P	R	Disease	-
Q8TDX6	CGAT1_HUMAN	234	H	R	Unclassified	-
Q8TDX6	CGAT1_HUMAN	137	V	I	Polymorphism	-
Q8TDX6	CGAT1_HUMAN	193	S	N	Polymorphism	-
Q8TDX6	CGAT1_HUMAN	473	F	Y	Polymorphism	-
Q8TDX6	CGAT1_HUMAN	509	M	R	Unclassified	-
Q8TDX7	NEK7_HUMAN	35	R	G	Polymorphism	-
Q8TDX7	NEK7_HUMAN	275	I	M	Unclassified	An ovarian serous carcinoma sample
Q8TDX9	PK1L1_HUMAN	2603	L	F	Polymorphism	-
Q8TDX9	PK1L1_HUMAN	1691	C	S	Disease	Heterotaxy, visceral, 8, autosomal (HTX8) [MIM:617205]
Q8TDX9	PK1L1_HUMAN	894	V	I	Polymorphism	-
Q8TDX9	PK1L1_HUMAN	906	V	I	Polymorphism	-
Q8TDX9	PK1L1_HUMAN	2685	A	T	Polymorphism	-
Q8TDX9	PK1L1_HUMAN	879	T	A	Polymorphism	-
Q8TDX9	PK1L1_HUMAN	812	D	N	Polymorphism	-
Q8TDX9	PK1L1_HUMAN	2410	E	K	Polymorphism	-
Q8TDX9	PK1L1_HUMAN	1053	R	P	Polymorphism	-
Q8TDX9	PK1L1_HUMAN	2057	R	H	Polymorphism	-
Q8TDX9	PK1L1_HUMAN	1272	K	E	Polymorphism	-
Q8TDX9	PK1L1_HUMAN	312	V	F	Polymorphism	-
Q8TDY2	RBCC1_HUMAN	1216	R	K	Polymorphism	-
Q8TDY2	RBCC1_HUMAN	1314	N	K	Polymorphism	-
Q8TDY2	RBCC1_HUMAN	1424	S	F	Polymorphism	-
Q8TDY2	RBCC1_HUMAN	1514	R	C	Unclassified	A breast cancer sample
Q8TDY2	RBCC1_HUMAN	234	M	T	Polymorphism	-
Q8TDY2	RBCC1_HUMAN	708	P	L	Polymorphism	-
Q8TDY3	ACTT2_HUMAN	247	G	R	Polymorphism	-
Q8TDY4	ASAP3_HUMAN	617	A	T	Unclassified	A colorectal cancer sample
Q8TDY4	ASAP3_HUMAN	377	E	A	Polymorphism	-
Q8TDY8	IGDC4_HUMAN	301	N	S	Polymorphism	-
Q8TDY8	IGDC4_HUMAN	1102	T	A	Polymorphism	-
Q8TDY8	IGDC4_HUMAN	1125	C	Y	Polymorphism	-
Q8TDY8	IGDC4_HUMAN	52	A	P	Polymorphism	-
Q8TDY8	IGDC4_HUMAN	803	S	C	Polymorphism	-
Q8TDZ2	MICA1_HUMAN	758	A	K	Polymorphism	-
Q8TDZ2	MICA1_HUMAN	758	A	S	Polymorphism	-
Q8TDZ2	MICA1_HUMAN	758	A	E	Polymorphism	-
Q8TDZ2	MICA1_HUMAN	153	D	A	Polymorphism	-
Q8TDZ2	MICA1_HUMAN	624	A	T	Polymorphism	-
Q8TDZ2	MICA1_HUMAN	453	R	C	Polymorphism	-
Q8TDZ2	MICA1_HUMAN	309	L	M	Unclassified	A breast cancer sample
Q8TDZ2	MICA1_HUMAN	12	A	T	Polymorphism	-
Q8TDZ2	MICA1_HUMAN	195	R	H	Polymorphism	-
Q8TDZ2	MICA1_HUMAN	12	A	S	Polymorphism	-
Q8TDZ2	MICA1_HUMAN	758	A	T	Polymorphism	-
Q8TE02	ELP5_HUMAN	303	D	Y	Polymorphism	-
Q8TE02	ELP5_HUMAN	14	E	K	Polymorphism	-
Q8TE23	TS1R2_HUMAN	574	A	T	Polymorphism	-
Q8TE23	TS1R2_HUMAN	317	R	G	Polymorphism	-
Q8TE23	TS1R2_HUMAN	191	I	V	Polymorphism	-
Q8TE23	TS1R2_HUMAN	486	I	V	Polymorphism	-
Q8TE23	TS1R2_HUMAN	838	R	K	Polymorphism	-
Q8TE23	TS1R2_HUMAN	9	S	C	Polymorphism	-
Q8TE23	TS1R2_HUMAN	595	I	T	Polymorphism	-
Q8TE54	S26A7_HUMAN	381	V	G	Polymorphism	-
Q8TE54	S26A7_HUMAN	215	I	V	Polymorphism	-
Q8TE56	ATS17_HUMAN	482	M	T	Polymorphism	-
Q8TE56	ATS17_HUMAN	1094	N	S	Polymorphism	-
Q8TE56	ATS17_HUMAN	216	S	L	Polymorphism	-
Q8TE56	ATS17_HUMAN	566	R	T	Polymorphism	-
Q8TE57	ATS16_HUMAN	486	A	T	Polymorphism	-
Q8TE57	ATS16_HUMAN	789	R	C	Polymorphism	-
Q8TE57	ATS16_HUMAN	859	R	L	Polymorphism	-
Q8TE57	ATS16_HUMAN	110	M	V	Polymorphism	-
Q8TE57	ATS16_HUMAN	863	E	K	Polymorphism	-
Q8TE58	ATS15_HUMAN	770	Q	R	Unclassified	A colorectal cancer sample
Q8TE58	ATS15_HUMAN	623	N	S	Polymorphism	-
Q8TE58	ATS15_HUMAN	878	C	G	Unclassified	A colorectal cancer sample
Q8TE59	ATS19_HUMAN	1089	Y	F	Polymorphism	-
Q8TE59	ATS19_HUMAN	360	L	I	Unclassified	A breast cancer sample
Q8TE59	ATS19_HUMAN	582	E	G	Polymorphism	-
Q8TE60	ATS18_HUMAN	577	C	W	Disease	Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]
Q8TE60	ATS18_HUMAN	946	A	S	Polymorphism	-
Q8TE60	ATS18_HUMAN	626	L	I	Polymorphism	-
Q8TE60	ATS18_HUMAN	382	R	K	Unclassified	A colorectal cancer sample
Q8TE60	ATS18_HUMAN	1080	S	R	Polymorphism	-
Q8TE60	ATS18_HUMAN	769	L	I	Polymorphism	-
Q8TE60	ATS18_HUMAN	202	L	P	Disease	Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]
Q8TE60	ATS18_HUMAN	455	K	T	Unclassified	A colorectal cancer sample
Q8TE60	ATS18_HUMAN	1159	S	T	Polymorphism	-
Q8TE60	ATS18_HUMAN	191	Y	H	Polymorphism	-
Q8TE60	ATS18_HUMAN	179	S	L	Polymorphism	-
Q8TE67	ES8L3_HUMAN	35	M	I	Polymorphism	-
Q8TE67	ES8L3_HUMAN	581	R	Q	Polymorphism	-
Q8TE67	ES8L3_HUMAN	356	P	S	Polymorphism	-
Q8TE67	ES8L3_HUMAN	293	H	Y	Polymorphism	-
Q8TE67	ES8L3_HUMAN	163	G	S	Polymorphism	-
Q8TE68	ES8L1_HUMAN	4	A	T	Polymorphism	-
Q8TE68	ES8L1_HUMAN	457	Q	E	Polymorphism	-
Q8TE68	ES8L1_HUMAN	669	K	R	Polymorphism	-
Q8TE68	ES8L1_HUMAN	288	R	G	Polymorphism	-
Q8TE68	ES8L1_HUMAN	703	L	P	Polymorphism	-
Q8TE73	DYH5_HUMAN	3843	S	L	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE73	DYH5_HUMAN	2881	A	G	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE73	DYH5_HUMAN	620	Q	K	Polymorphism	-
Q8TE73	DYH5_HUMAN	2463	Q	R	Polymorphism	-
Q8TE73	DYH5_HUMAN	1716	R	L	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE73	DYH5_HUMAN	3519	G	R	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE73	DYH5_HUMAN	4220	T	A	Polymorphism	-
Q8TE73	DYH5_HUMAN	591	L	V	Polymorphism	-
Q8TE73	DYH5_HUMAN	4205	G	V	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE73	DYH5_HUMAN	2347	E	K	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE73	DYH5_HUMAN	558	T	A	Polymorphism	-
Q8TE73	DYH5_HUMAN	591	L	R	Polymorphism	-
Q8TE73	DYH5_HUMAN	765	K	N	Polymorphism	-
Q8TE73	DYH5_HUMAN	2425	R	H	Polymorphism	-
Q8TE73	DYH5_HUMAN	12	H	Q	Polymorphism	-
Q8TE73	DYH5_HUMAN	3791	T	I	Polymorphism	-
Q8TE73	DYH5_HUMAN	4134	A	V	Polymorphism	-
Q8TE73	DYH5_HUMAN	1006	S	G	Polymorphism	-
Q8TE73	DYH5_HUMAN	2264	S	N	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE73	DYH5_HUMAN	1081	M	V	Polymorphism	-
Q8TE73	DYH5_HUMAN	2501	R	P	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE73	DYH5_HUMAN	4450	I	V	Polymorphism	-
Q8TE73	DYH5_HUMAN	3409	W	S	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE73	DYH5_HUMAN	24	G	E	Polymorphism	-
Q8TE73	DYH5_HUMAN	766	I	L	Polymorphism	-
Q8TE73	DYH5_HUMAN	3605	D	N	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE73	DYH5_HUMAN	2843	F	S	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE73	DYH5_HUMAN	2862	L	F	Polymorphism	-
Q8TE73	DYH5_HUMAN	1454	R	Q	Disease	Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]
Q8TE76	MORC4_HUMAN	473	T	I	Polymorphism	-
Q8TE76	MORC4_HUMAN	653	R	C	Polymorphism	-
Q8TE77	SSH3_HUMAN	600	R	H	Polymorphism	-
Q8TE77	SSH3_HUMAN	239	E	V	Polymorphism	-
Q8TE82	S3TC1_HUMAN	437	L	P	Polymorphism	-
Q8TE82	S3TC1_HUMAN	785	R	C	Polymorphism	-
Q8TE82	S3TC1_HUMAN	291	D	N	Polymorphism	-
Q8TE82	S3TC1_HUMAN	1130	A	T	Unclassified	A colorectal cancer sample
Q8TE82	S3TC1_HUMAN	719	R	H	Unclassified	A colorectal cancer sample
Q8TE85	GRHL3_HUMAN	160	V	A	Polymorphism	-
Q8TE85	GRHL3_HUMAN	391	R	C	Disease	Van der Woude syndrome 2 (VWS2) [MIM:606713]
Q8TE85	GRHL3_HUMAN	298	R	H	Disease	Van der Woude syndrome 2 (VWS2) [MIM:606713]
Q8TE85	GRHL3_HUMAN	520	R	Q	Disease	Van der Woude syndrome 2 (VWS2) [MIM:606713]
Q8TE85	GRHL3_HUMAN	55	D	E	Polymorphism	-
Q8TEA7	TBCK_HUMAN	692	R	C	Polymorphism	-
Q8TEA7	TBCK_HUMAN	503	R	I	Unclassified	A colorectal adenocarcinoma sample
Q8TEA7	TBCK_HUMAN	471	M	I	Polymorphism	-
Q8TEA7	TBCK_HUMAN	151	I	M	Polymorphism	-
Q8TEA7	TBCK_HUMAN	265	D	N	Polymorphism	-
Q8TEA7	TBCK_HUMAN	806	I	V	Unclassified	A head & Neck squamous cell carcinoma sample
Q8TEA7	TBCK_HUMAN	551	L	P	Disease	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) [MIM:616900]
Q8TEA7	TBCK_HUMAN	66	R	L	Polymorphism	-
Q8TEA7	TBCK_HUMAN	266	Q	E	Polymorphism	-
Q8TEA7	TBCK_HUMAN	511	R	H	Disease	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) [MIM:616900]
Q8TEA7	TBCK_HUMAN	425	T	M	Polymorphism	-
Q8TEA7	TBCK_HUMAN	489	K	N	Polymorphism	-
Q8TEB1	DCA11_HUMAN	207	R	H	Polymorphism	-
Q8TEB9	RHBL4_HUMAN	110	A	T	Polymorphism	-
Q8TEC5	SH3R2_HUMAN	16	F	S	Polymorphism	-
Q8TEC5	SH3R2_HUMAN	687	V	I	Polymorphism	-
Q8TEC5	SH3R2_HUMAN	477	R	Q	Polymorphism	-
Q8TEC5	SH3R2_HUMAN	174	F	V	Polymorphism	-
Q8TEC5	SH3R2_HUMAN	267	R	C	Polymorphism	-
Q8TEC5	SH3R2_HUMAN	710	G	A	Polymorphism	-
Q8TEC5	SH3R2_HUMAN	592	W	R	Polymorphism	-
Q8TED0	UTP15_HUMAN	332	R	S	Polymorphism	-
Q8TED0	UTP15_HUMAN	483	T	P	Polymorphism	-
Q8TED0	UTP15_HUMAN	228	Y	H	Polymorphism	-
Q8TED1	GPX8_HUMAN	182	K	R	Polymorphism	-
Q8TED4	G6PT3_HUMAN	96	I	V	Polymorphism	-
Q8TED4	G6PT3_HUMAN	268	G	S	Polymorphism	-
Q8TEK3	DOT1L_HUMAN	1418	V	L	Polymorphism	-
Q8TEK3	DOT1L_HUMAN	1386	G	S	Polymorphism	-
Q8TEK3	DOT1L_HUMAN	726	L	M	Polymorphism	-
Q8TEM1	PO210_HUMAN	1096	M	I	Polymorphism	-
Q8TEM1	PO210_HUMAN	821	P	A	Polymorphism	-
Q8TEM1	PO210_HUMAN	297	A	T	Polymorphism	-
Q8TEM1	PO210_HUMAN	608	I	V	Polymorphism	-
Q8TEM1	PO210_HUMAN	1430	D	E	Polymorphism	-
Q8TEM1	PO210_HUMAN	944	A	P	Polymorphism	-
Q8TEM1	PO210_HUMAN	1787	V	M	Polymorphism	-
Q8TEM1	PO210_HUMAN	1752	L	S	Polymorphism	-
Q8TEM1	PO210_HUMAN	755	A	V	Polymorphism	-
Q8TEM1	PO210_HUMAN	786	R	L	Polymorphism	-
Q8TEP8	CE192_HUMAN	1701	L	F	Polymorphism	-
Q8TEP8	CE192_HUMAN	2271	K	E	Polymorphism	-
Q8TEP8	CE192_HUMAN	1544	R	H	Polymorphism	-
Q8TEP8	CE192_HUMAN	1365	V	M	Polymorphism	-
Q8TEP8	CE192_HUMAN	2121	L	P	Polymorphism	-
Q8TEP8	CE192_HUMAN	1109	Q	P	Polymorphism	-
Q8TEP8	CE192_HUMAN	2051	S	N	Polymorphism	-
Q8TEP8	CE192_HUMAN	1552	S	P	Polymorphism	-
Q8TEP8	CE192_HUMAN	1053	T	A	Polymorphism	-
Q8TEP8	CE192_HUMAN	2449	R	L	Polymorphism	-
Q8TEQ6	GEMI5_HUMAN	1155	P	S	Polymorphism	-
Q8TEQ6	GEMI5_HUMAN	682	R	Q	Polymorphism	-
Q8TEQ8	PIGO_HUMAN	871	H	P	Unclassified	Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]
Q8TEQ8	PIGO_HUMAN	686	L	M	Unclassified	A colorectal cancer sample
Q8TEQ8	PIGO_HUMAN	957	L	F	Disease	Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]
Q8TEQ8	PIGO_HUMAN	255	M	I	Unclassified	-
Q8TEQ8	PIGO_HUMAN	119	R	W	Disease	Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]
Q8TEQ8	PIGO_HUMAN	344	M	K	Unclassified	Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]
Q8TEQ8	PIGO_HUMAN	1047	K	E	Disease	Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]
Q8TEQ8	PIGO_HUMAN	370	N	S	Disease	Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]
Q8TEQ8	PIGO_HUMAN	130	T	N	Disease	-
Q8TER0	SNED1_HUMAN	1228	L	P	Polymorphism	-
Q8TER0	SNED1_HUMAN	1362	A	S	Polymorphism	-
Q8TER0	SNED1_HUMAN	1299	H	R	Polymorphism	-
Q8TER0	SNED1_HUMAN	1289	R	Q	Polymorphism	-
Q8TER5	ARH40_HUMAN	1418	T	P	Polymorphism	-
Q8TER5	ARH40_HUMAN	1189	L	S	Polymorphism	-
Q8TER5	ARH40_HUMAN	956	V	L	Polymorphism	-
Q8TER5	ARH40_HUMAN	1312	M	T	Polymorphism	-
Q8TES7	FBF1_HUMAN	65	G	V	Polymorphism	-
Q8TES7	FBF1_HUMAN	574	C	S	Polymorphism	-
Q8TES7	FBF1_HUMAN	151	R	G	Polymorphism	-
Q8TES7	FBF1_HUMAN	371	P	S	Polymorphism	-
Q8TET4	GANC_HUMAN	166	I	V	Polymorphism	-
Q8TET4	GANC_HUMAN	845	F	S	Polymorphism	-
Q8TET4	GANC_HUMAN	848	Q	R	Polymorphism	-
Q8TET4	GANC_HUMAN	44	Q	R	Polymorphism	-
Q8TET4	GANC_HUMAN	153	I	M	Polymorphism	-
Q8TET4	GANC_HUMAN	443	D	E	Polymorphism	-
Q8TET4	GANC_HUMAN	11	L	V	Polymorphism	-
Q8TEU7	RPGF6_HUMAN	1559	V	E	Polymorphism	-
Q8TEU7	RPGF6_HUMAN	1353	I	V	Polymorphism	-
Q8TEU7	RPGF6_HUMAN	594	A	P	Polymorphism	-
Q8TEU7	RPGF6_HUMAN	570	S	A	Polymorphism	-
Q8TEU7	RPGF6_HUMAN	1452	Q	R	Polymorphism	-
Q8TEU8	WFKN2_HUMAN	96	V	M	Polymorphism	-
Q8TEU8	WFKN2_HUMAN	31	R	Q	Polymorphism	-
Q8TEV9	SMCR8_HUMAN	556	R	H	Polymorphism	-
Q8TEV9	SMCR8_HUMAN	636	N	S	Polymorphism	-
Q8TEV9	SMCR8_HUMAN	524	P	L	Polymorphism	-
Q8TEW0	PARD3_HUMAN	349	R	H	Unclassified	Neural tube defects (NTD) [MIM:182940]
Q8TEW0	PARD3_HUMAN	107	E	D	Polymorphism	-
Q8TEW0	PARD3_HUMAN	913	P	Q	Disease	Neural tube defects (NTD) [MIM:182940]
Q8TEW0	PARD3_HUMAN	783	D	G	Disease	Neural tube defects (NTD) [MIM:182940]
Q8TEW0	PARD3_HUMAN	575	D	N	Polymorphism	-
Q8TEW8	PAR3L_HUMAN	295	Q	K	Polymorphism	-
Q8TEW8	PAR3L_HUMAN	317	K	R	Polymorphism	-
Q8TEW8	PAR3L_HUMAN	165	L	P	Polymorphism	-
Q8TEW8	PAR3L_HUMAN	192	R	K	Polymorphism	-
Q8TEX9	IPO4_HUMAN	513	A	V	Polymorphism	-
Q8TEX9	IPO4_HUMAN	580	P	A	Polymorphism	-
Q8TEY5	CR3L4_HUMAN	95	P	S	Polymorphism	-
Q8TF05	PP4R1_HUMAN	593	S	N	Polymorphism	-
Q8TF05	PP4R1_HUMAN	43	E	K	Polymorphism	-
Q8TF05	PP4R1_HUMAN	470	I	V	Polymorphism	-
Q8TF05	PP4R1_HUMAN	595	S	N	Polymorphism	-
Q8TF08	CX7B2_HUMAN	27	H	Q	Polymorphism	-
Q8TF09	DLRB2_HUMAN	14	H	R	Polymorphism	-
Q8TF17	S3TC2_HUMAN	468	A	S	Polymorphism	-
Q8TF17	S3TC2_HUMAN	169	Y	H	Disease	Mononeuropathy of the median nerve mild (MNMN) [MIM:613353]
Q8TF17	S3TC2_HUMAN	529	R	Q	Disease	Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596]
Q8TF17	S3TC2_HUMAN	696	H	R	Polymorphism	-
Q8TF17	S3TC2_HUMAN	658	R	C	Disease	Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596]
Q8TF17	S3TC2_HUMAN	657	E	K	Disease	Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596]
Q8TF17	S3TC2_HUMAN	171	G	E	Polymorphism	-
Q8TF21	ANR24_HUMAN	111	A	T	Polymorphism	-
Q8TF21	ANR24_HUMAN	349	R	Q	Polymorphism	-
Q8TF21	ANR24_HUMAN	684	S	A	Polymorphism	-
Q8TF21	ANR24_HUMAN	585	E	K	Polymorphism	-
Q8TF27	AGA11_HUMAN	82	I	V	Polymorphism	-
Q8TF30	WHAMM_HUMAN	212	N	S	Polymorphism	-
Q8TF30	WHAMM_HUMAN	340	Q	K	Polymorphism	-
Q8TF30	WHAMM_HUMAN	686	R	H	Polymorphism	-
Q8TF30	WHAMM_HUMAN	345	R	Q	Polymorphism	-
Q8TF30	WHAMM_HUMAN	736	H	Q	Polymorphism	-
Q8TF30	WHAMM_HUMAN	736	H	P	Polymorphism	-
Q8TF32	ZN431_HUMAN	3	D	G	Polymorphism	-
Q8TF40	FNIP1_HUMAN	76	G	C	Polymorphism	-
Q8TF40	FNIP1_HUMAN	844	I	V	Polymorphism	-
Q8TF40	FNIP1_HUMAN	354	S	L	Polymorphism	-
Q8TF40	FNIP1_HUMAN	738	V	L	Polymorphism	-
Q8TF40	FNIP1_HUMAN	648	Q	R	Polymorphism	-
Q8TF42	UBS3B_HUMAN	68	A	T	Polymorphism	-
Q8TF42	UBS3B_HUMAN	569	N	S	Polymorphism	-
Q8TF46	DI3L1_HUMAN	747	N	S	Polymorphism	-
Q8TF46	DI3L1_HUMAN	614	D	G	Polymorphism	-
Q8TF46	DI3L1_HUMAN	518	I	V	Polymorphism	-
Q8TF50	ZN526_HUMAN	511	S	F	Polymorphism	-
Q8TF50	ZN526_HUMAN	94	V	A	Polymorphism	-
Q8TF62	AT8B4_HUMAN	225	N	S	Polymorphism	-
Q8TF62	AT8B4_HUMAN	1190	V	G	Polymorphism	-
Q8TF62	AT8B4_HUMAN	452	H	N	Polymorphism	-
Q8TF62	AT8B4_HUMAN	1165	N	K	Polymorphism	-
Q8TF63	DCNP1_HUMAN	75	T	P	Polymorphism	-
Q8TF63	DCNP1_HUMAN	97	N	D	Polymorphism	-
Q8TF64	GIPC3_HUMAN	262	L	R	Disease	Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64	GIPC3_HUMAN	221	T	I	Disease	Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64	GIPC3_HUMAN	189	R	C	Disease	Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64	GIPC3_HUMAN	256	G	D	Disease	Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64	GIPC3_HUMAN	88	M	I	Disease	Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64	GIPC3_HUMAN	46	G	R	Disease	Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64	GIPC3_HUMAN	94	G	D	Disease	Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF65	GIPC2_HUMAN	206	L	P	Polymorphism	-
Q8TF65	GIPC2_HUMAN	61	S	F	Polymorphism	-
Q8TF66	LRC15_HUMAN	286	P	L	Polymorphism	-
Q8TF66	LRC15_HUMAN	264	V	I	Polymorphism	-
Q8TF71	MOT10_HUMAN	508	K	Q	Polymorphism	-
Q8TF72	SHRM3_HUMAN	469	P	A	Polymorphism	-
Q8TF72	SHRM3_HUMAN	279	G	A	Polymorphism	-
Q8TF72	SHRM3_HUMAN	1290	P	L	Polymorphism	-
Q8TF72	SHRM3_HUMAN	147	L	H	Polymorphism	-
Q8TF76	HASP_HUMAN	82	R	C	Polymorphism	-
Q8TF76	HASP_HUMAN	204	G	D	Polymorphism	-
Q8TF76	HASP_HUMAN	301	Q	L	Polymorphism	-
Q8TF76	HASP_HUMAN	145	R	H	Polymorphism	-
Q8TF76	HASP_HUMAN	328	I	T	Polymorphism	-
Q8TF76	HASP_HUMAN	706	M	V	Polymorphism	-
Q8TF76	HASP_HUMAN	422	N	D	Polymorphism	-
Q8TF76	HASP_HUMAN	76	V	E	Polymorphism	-
Q8TF76	HASP_HUMAN	283	G	S	Polymorphism	-
Q8TF76	HASP_HUMAN	378	V	A	Polymorphism	-
Q8WTP8	AEN_HUMAN	15	P	L	Polymorphism	-
Q8WTP8	AEN_HUMAN	88	S	C	Polymorphism	-
Q8WTP8	AEN_HUMAN	140	N	D	Polymorphism	-
Q8WTQ1	D104A_HUMAN	10	I	V	Polymorphism	-
Q8WTQ4	CP078_HUMAN	152	R	Q	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	196	V	G	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	461	R	C	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	313	V	I	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	196	V	M	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	127	S	T	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	460	P	T	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	226	R	W	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	113	C	W	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	309	E	Q	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	81	R	H	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	253	S	F	Unclassified	A metastatic melanoma sample
Q8WTQ7	GRK7_HUMAN	115	S	C	Polymorphism	-
Q8WTQ7	GRK7_HUMAN	443	E	G	Polymorphism	-
Q8WTR2	DUS19_HUMAN	216	S	R	Polymorphism	-
Q8WTR4	GDPD5_HUMAN	480	A	T	Polymorphism	-
Q8WTR7	ZN473_HUMAN	654	T	I	Polymorphism	-
Q8WTR7	ZN473_HUMAN	164	T	M	Polymorphism	-
Q8WTR7	ZN473_HUMAN	59	S	G	Polymorphism	-
Q8WTR7	ZN473_HUMAN	662	S	A	Polymorphism	-
Q8WTR7	ZN473_HUMAN	309	E	G	Polymorphism	-
Q8WTR7	ZN473_HUMAN	74	S	G	Polymorphism	-
Q8WTS1	ABHD5_HUMAN	130	Q	P	Disease	Chanarin-Dorfman syndrome (CDS) [MIM:275630]
Q8WTS1	ABHD5_HUMAN	260	E	K	Disease	Chanarin-Dorfman syndrome (CDS) [MIM:275630]
Q8WTS1	ABHD5_HUMAN	115	S	G	Disease	Chanarin-Dorfman syndrome (CDS) [MIM:275630]
Q8WTS1	ABHD5_HUMAN	7	E	K	Disease	Chanarin-Dorfman syndrome (CDS) [MIM:275630]
Q8WTS1	ABHD5_HUMAN	82	H	R	Polymorphism	-
Q8WTS1	ABHD5_HUMAN	72	I	T	Polymorphism	-
Q8WTT2	NOC3L_HUMAN	194	P	L	Polymorphism	-
Q8WTT2	NOC3L_HUMAN	655	T	S	Polymorphism	-
Q8WTT2	NOC3L_HUMAN	472	E	A	Polymorphism	-
Q8WTT2	NOC3L_HUMAN	695	A	T	Polymorphism	-
Q8WTT2	NOC3L_HUMAN	504	R	I	Polymorphism	-
Q8WTT2	NOC3L_HUMAN	444	P	R	Polymorphism	-
Q8WTU0	DDI1_HUMAN	136	G	S	Polymorphism	-
Q8WTU0	DDI1_HUMAN	239	G	E	Polymorphism	-
Q8WTU0	DDI1_HUMAN	142	S	G	Polymorphism	-
Q8WTU2	SRB4D_HUMAN	128	R	H	Polymorphism	-
Q8WTV0	SCRB1_HUMAN	167	G	S	Polymorphism	-
Q8WTV0	SCRB1_HUMAN	511	C	R	Polymorphism	-
Q8WTV0	SCRB1_HUMAN	297	P	S	Polymorphism	-
Q8WTV0	SCRB1_HUMAN	135	V	I	Polymorphism	-
Q8WTV0	SCRB1_HUMAN	229	S	G	Polymorphism	-
Q8WTV0	SCRB1_HUMAN	376	P	L	Polymorphism	-
Q8WTV0	SCRB1_HUMAN	2	G	S	Polymorphism	-
Q8WTW3	COG1_HUMAN	357	M	L	Polymorphism	-
Q8WTW3	COG1_HUMAN	744	Y	C	Polymorphism	-
Q8WTW3	COG1_HUMAN	392	N	S	Polymorphism	-
Q8WTW4	NPRL2_HUMAN	214	D	H	Unclassified	Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116]
Q8WTW4	NPRL2_HUMAN	110	T	S	Unclassified	Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116]
Q8WTW4	NPRL2_HUMAN	198	P	H	Unclassified	Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116]
Q8WTW4	NPRL2_HUMAN	105	L	P	Disease	Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116]
Q8WTX9	ZDHC1_HUMAN	124	R	Q	Polymorphism	-
Q8WU03	GLYL2_HUMAN	82	P	S	Polymorphism	-
Q8WU03	GLYL2_HUMAN	160	E	K	Polymorphism	-
Q8WU03	GLYL2_HUMAN	168	L	I	Polymorphism	-
Q8WU08	ST32A_HUMAN	316	M	I	Unclassified	A lung neuroendocrine carcinoma sample
Q8WU08	ST32A_HUMAN	58	K	M	Polymorphism	-
Q8WU08	ST32A_HUMAN	89	S	F	Unclassified	A metastatic melanoma sample
Q8WU10	PYRD1_HUMAN	155	N	S	Disease	Myopathy, myofibrillar, 8 (MFM8) [MIM:617258]
Q8WU10	PYRD1_HUMAN	372	Q	H	Disease	Myopathy, myofibrillar, 8 (MFM8) [MIM:617258]
Q8WU20	FRS2_HUMAN	449	N	D	Polymorphism	-
Q8WU20	FRS2_HUMAN	303	K	N	Polymorphism	-
Q8WU58	F222B_HUMAN	542	G	S	Polymorphism	-
Q8WU58	F222B_HUMAN	471	L	S	Polymorphism	-
Q8WU66	TSEAR_HUMAN	618	Y	N	Unclassified	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14) [MIM:618180]
Q8WU66	TSEAR_HUMAN	576	V	F	Unclassified	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14) [MIM:618180]
Q8WU66	TSEAR_HUMAN	639	D	N	Unclassified	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14) [MIM:618180]
Q8WU66	TSEAR_HUMAN	166	A	T	Unclassified	A colorectal cancer sample
Q8WU67	ABHD3_HUMAN	3	R	C	Polymorphism	-
Q8WU76	SCFD2_HUMAN	512	L	S	Polymorphism	-
Q8WU79	SMAP2_HUMAN	289	A	T	Polymorphism	-
Q8WU90	ZC3HF_HUMAN	342	V	E	Polymorphism	-
Q8WU90	ZC3HF_HUMAN	408	T	P	Polymorphism	-
Q8WUA8	TSK_HUMAN	248	S	N	Polymorphism	-
Q8WUA8	TSK_HUMAN	344	D	E	Polymorphism	-
Q8WUA8	TSK_HUMAN	208	R	C	Polymorphism	-
Q8WUA8	TSK_HUMAN	308	V	I	Polymorphism	-
Q8WUB2	F216A_HUMAN	225	R	G	Polymorphism	-
Q8WUD1	RAB2B_HUMAN	212	N	T	Polymorphism	-
Q8WUD6	CHPT1_HUMAN	323	Y	S	Unclassified	-
Q8WUD6	CHPT1_HUMAN	162	F	S	Polymorphism	-
Q8WUF8	F172A_HUMAN	228	E	Q	Unclassified	-
Q8WUF8	F172A_HUMAN	131	S	N	Polymorphism	-
Q8WUH2	TGFA1_HUMAN	725	H	R	Polymorphism	-
Q8WUI4	HDAC7_HUMAN	43	V	M	Unclassified	A breast cancer sample
Q8WUJ1	NEUFC_HUMAN	7	R	G	Unclassified	A colorectal cancer sample
Q8WUJ1	NEUFC_HUMAN	7	R	P	Unclassified	A colorectal cancer sample
Q8WUJ3	CEMIP_HUMAN	783	H	R	Polymorphism	-
Q8WUJ3	CEMIP_HUMAN	187	R	H	Polymorphism	-
Q8WUJ3	CEMIP_HUMAN	1169	P	A	Polymorphism	-
Q8WUJ3	CEMIP_HUMAN	783	H	Y	Polymorphism	-
Q8WUJ3	CEMIP_HUMAN	1109	V	I	Polymorphism	-
Q8WUJ3	CEMIP_HUMAN	187	R	C	Polymorphism	-
Q8WUM0	NU133_HUMAN	448	G	R	Unclassified	A breast cancer sample
Q8WUM0	NU133_HUMAN	406	Q	R	Polymorphism	-
Q8WUM0	NU133_HUMAN	294	I	V	Polymorphism	-
Q8WUM0	NU133_HUMAN	231	R	G	Disease	Nephrotic syndrome 18 (NPHS18) [MIM:618177]
Q8WUM0	NU133_HUMAN	1055	L	S	Disease	Nephrotic syndrome 18 (NPHS18) [MIM:618177]
Q8WUM0	NU133_HUMAN	106	T	P	Polymorphism	-
Q8WUM0	NU133_HUMAN	974	S	R	Disease	Nephrotic syndrome 18 (NPHS18) [MIM:618177]
Q8WUM0	NU133_HUMAN	326	G	V	Unclassified	A breast cancer sample
Q8WUM4	PDC6I_HUMAN	378	V	I	Polymorphism	-
Q8WUM4	PDC6I_HUMAN	638	K	E	Polymorphism	-
Q8WUM4	PDC6I_HUMAN	550	N	S	Polymorphism	-
Q8WUM4	PDC6I_HUMAN	429	G	S	Polymorphism	-
Q8WUM4	PDC6I_HUMAN	730	S	L	Polymorphism	-
Q8WUM4	PDC6I_HUMAN	309	A	T	Polymorphism	-
Q8WUM4	PDC6I_HUMAN	7	V	M	Polymorphism	-
Q8WUN7	UBTD2_HUMAN	129	M	I	Polymorphism	-
Q8WUP2	FBLI1_HUMAN	191	S	F	Polymorphism	-
Q8WUP2	FBLI1_HUMAN	39	R	C	Polymorphism	-
Q8WUR7	CO040_HUMAN	89	A	T	Polymorphism	-
Q8WUS8	D42E1_HUMAN	10	S	T	Polymorphism	-
Q8WUS8	D42E1_HUMAN	320	G	D	Polymorphism	-
Q8WUS8	D42E1_HUMAN	96	K	E	Polymorphism	-
Q8WUT4	LRRN4_HUMAN	141	T	A	Polymorphism	-
Q8WUT4	LRRN4_HUMAN	138	P	L	Polymorphism	-
Q8WUT9	S2543_HUMAN	334	P	L	Polymorphism	-
Q8WUU5	GATD1_HUMAN	102	S	P	Disease	Cardiomyopathy, dilated 2B (CMD2B) [MIM:614672]
Q8WUU5	GATD1_HUMAN	233	R	W	Polymorphism	-
Q8WUU5	GATD1_HUMAN	54	G	S	Polymorphism	-
Q8WUX1	S38A5_HUMAN	451	M	T	Polymorphism	-
Q8WUX2	CHAC2_HUMAN	82	R	G	Polymorphism	-
Q8WUY1	THEM6_HUMAN	93	E	Q	Polymorphism	-
Q8WUY3	PRUN2_HUMAN	806	E	K	Polymorphism	-
Q8WUY9	DEP1B_HUMAN	332	R	M	Polymorphism	-
Q8WUY9	DEP1B_HUMAN	395	V	L	Polymorphism	-
Q8WV07	LTO1_HUMAN	3	G	S	Polymorphism	-
Q8WV16	DCAF4_HUMAN	193	K	T	Polymorphism	-
Q8WV16	DCAF4_HUMAN	22	W	C	Polymorphism	-
Q8WV16	DCAF4_HUMAN	439	R	I	Polymorphism	-
Q8WV16	DCAF4_HUMAN	266	N	S	Polymorphism	-
Q8WV16	DCAF4_HUMAN	345	S	C	Polymorphism	-
Q8WV16	DCAF4_HUMAN	334	L	F	Polymorphism	-
Q8WV19	SFT2A_HUMAN	109	I	V	Polymorphism	-
Q8WV22	NSE1_HUMAN	47	N	S	Polymorphism	-
Q8WV22	NSE1_HUMAN	38	T	R	Polymorphism	-
Q8WV35	LRC29_HUMAN	75	R	Q	Polymorphism	-
Q8WV35	LRC29_HUMAN	117	G	S	Polymorphism	-
Q8WV37	ZN480_HUMAN	361	H	Q	Unclassified	A colorectal cancer sample
Q8WV37	ZN480_HUMAN	177	P	S	Polymorphism	-
Q8WV44	TRI41_HUMAN	78	A	T	Polymorphism	-
Q8WV44	TRI41_HUMAN	438	D	G	Polymorphism	-
Q8WV48	CC107_HUMAN	190	S	F	Polymorphism	-
Q8WV48	CC107_HUMAN	220	I	V	Polymorphism	-
Q8WV48	CC107_HUMAN	242	S	C	Polymorphism	-
Q8WVB3	HEXD_HUMAN	145	I	V	Polymorphism	-
Q8WVB3	HEXD_HUMAN	232	H	Y	Polymorphism	-
Q8WVB6	CTF18_HUMAN	244	K	R	Polymorphism	-
Q8WVB6	CTF18_HUMAN	466	A	S	Polymorphism	-
Q8WVB6	CTF18_HUMAN	82	Q	P	Polymorphism	-
Q8WVB6	CTF18_HUMAN	63	S	F	Polymorphism	-
Q8WVB6	CTF18_HUMAN	928	P	L	Polymorphism	-
Q8WVC6	DCAKD_HUMAN	84	N	I	Polymorphism	-
Q8WVD3	RN138_HUMAN	81	K	R	Polymorphism	-
Q8WVE0	EFMT1_HUMAN	193	T	N	Polymorphism	-
Q8WVE6	TM171_HUMAN	86	R	G	Polymorphism	-
Q8WVE6	TM171_HUMAN	23	F	L	Polymorphism	-
Q8WVE6	TM171_HUMAN	139	N	K	Polymorphism	-
Q8WVF1	OSCP1_HUMAN	242	K	E	Polymorphism	-
Q8WVF1	OSCP1_HUMAN	31	P	R	Polymorphism	-
Q8WVF1	OSCP1_HUMAN	141	T	A	Polymorphism	-
Q8WVJ9	TWST2_HUMAN	75	E	A	Disease	Barber-Say syndrome (BBRSAY) [MIM:209885]
Q8WVJ9	TWST2_HUMAN	109	L	P	Disease	Focal facial dermal dysplasia 3, Setleis type (FFDD3) [MIM:227260]
Q8WVJ9	TWST2_HUMAN	75	E	Q	Disease	Barber-Say syndrome (BBRSAY) [MIM:209885]
Q8WVJ9	TWST2_HUMAN	75	E	K	Disease	Ablepharon-macrostomia syndrome (AMS) [MIM:200110]
Q8WVK2	SNR27_HUMAN	114	S	F	Polymorphism	-
Q8WVK2	SNR27_HUMAN	81	T	I	Polymorphism	-
Q8WVM0	TFB1M_HUMAN	256	R	Q	Polymorphism	-
Q8WVM0	TFB1M_HUMAN	211	T	A	Polymorphism	-
Q8WVM0	TFB1M_HUMAN	120	A	P	Polymorphism	-
Q8WVM7	STAG1_HUMAN	1132	Q	H	Polymorphism	-
Q8WVM7	STAG1_HUMAN	220	H	R	Disease	Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
Q8WVM7	STAG1_HUMAN	216	R	G	Disease	Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
Q8WVM7	STAG1_HUMAN	214	Q	R	Disease	Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
Q8WVM7	STAG1_HUMAN	333	K	Q	Disease	Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
Q8WVM7	STAG1_HUMAN	478	H	P	Disease	Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
Q8WVM7	STAG1_HUMAN	979	K	R	Disease	Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
Q8WVM7	STAG1_HUMAN	351	L	W	Disease	Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
Q8WVM7	STAG1_HUMAN	373	R	Q	Disease	Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]
Q8WVM8	SCFD1_HUMAN	63	K	R	Polymorphism	-
Q8WVP5	TP8L1_HUMAN	118	A	V	Polymorphism	-
Q8WVP7	LMBR1_HUMAN	228	T	A	Polymorphism	-
Q8WVQ1	CANT1_HUMAN	226	V	M	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1	CANT1_HUMAN	165	M	T	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1	CANT1_HUMAN	171	I	F	Unclassified	Epiphyseal dysplasia, multiple, 7 (EDM7) [MIM:617719]
Q8WVQ1	CANT1_HUMAN	226	V	M	Disease	Epiphyseal dysplasia, multiple, 7 (EDM7) [MIM:617719]
Q8WVQ1	CANT1_HUMAN	391	G	E	Polymorphism	-
Q8WVQ1	CANT1_HUMAN	112	D	E	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1	CANT1_HUMAN	299	P	L	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1	CANT1_HUMAN	303	S	R	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1	CANT1_HUMAN	125	W	C	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1	CANT1_HUMAN	300	R	H	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1	CANT1_HUMAN	323	A	T	Polymorphism	-
Q8WVQ1	CANT1_HUMAN	360	A	D	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1	CANT1_HUMAN	374	I	N	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1	CANT1_HUMAN	300	R	C	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1	CANT1_HUMAN	224	L	P	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVR3	MA11_HUMAN	295	R	H	Polymorphism	-
Q8WVS4	WDR60_HUMAN	273	Q	R	Polymorphism	-
Q8WVS4	WDR60_HUMAN	749	T	M	Disease	Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) [MIM:615503]
Q8WVS4	WDR60_HUMAN	91	E	G	Polymorphism	-
Q8WVT3	TPC12_HUMAN	627	A	V	Unclassified	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS) [MIM:617669]
Q8WVT3	TPC12_HUMAN	301	S	G	Polymorphism	-
Q8WVT3	TPC12_HUMAN	717	E	Q	Unclassified	A breast cancer sample
Q8WVV4	POF1B_HUMAN	239	C	S	Polymorphism	-
Q8WVV4	POF1B_HUMAN	207	P	S	Polymorphism	-
Q8WVV4	POF1B_HUMAN	329	R	Q	Disease	Premature ovarian failure 2B (POF2B) [MIM:300604]
Q8WVV4	POF1B_HUMAN	323	M	V	Polymorphism	-
Q8WVV4	POF1B_HUMAN	349	M	L	Polymorphism	-
Q8WVV4	POF1B_HUMAN	296	E	A	Polymorphism	-
Q8WVV4	POF1B_HUMAN	444	C	Y	Polymorphism	-
Q8WVV4	POF1B_HUMAN	434	Q	K	Polymorphism	-
Q8WVV5	BT2A2_HUMAN	479	P	S	Polymorphism	-
Q8WVX3	CD003_HUMAN	32	P	H	Polymorphism	-
Q8WVX3	CD003_HUMAN	17	R	Q	Polymorphism	-
Q8WVX9	FACR1_HUMAN	365	D	G	Disease	Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD) [MIM:616154]
Q8WVX9	FACR1_HUMAN	96	E	K	Polymorphism	-
Q8WVZ1	ZDH19_HUMAN	66	G	A	Polymorphism	-
Q8WW01	SEN15_HUMAN	76	W	G	Disease	Pontocerebellar hypoplasia 2F (PCH2F) [MIM:617026]
Q8WW01	SEN15_HUMAN	59	Q	H	Polymorphism	-
Q8WW01	SEN15_HUMAN	152	Y	C	Disease	Pontocerebellar hypoplasia 2F (PCH2F) [MIM:617026]
Q8WW01	SEN15_HUMAN	116	H	Y	Disease	Pontocerebellar hypoplasia 2F (PCH2F) [MIM:617026]
Q8WW01	SEN15_HUMAN	19	G	D	Polymorphism	-
Q8WW14	CJ082_HUMAN	124	T	M	Polymorphism	-
Q8WW18	CQ050_HUMAN	22	D	E	Polymorphism	-
Q8WW22	DNJA4_HUMAN	226	H	R	Polymorphism	-
Q8WW24	TEKT4_HUMAN	102	K	N	Polymorphism	-
Q8WW24	TEKT4_HUMAN	83	T	M	Polymorphism	-
Q8WW24	TEKT4_HUMAN	409	N	K	Polymorphism	-
Q8WW24	TEKT4_HUMAN	100	S	G	Polymorphism	-
Q8WW24	TEKT4_HUMAN	272	C	S	Unclassified	A breast cancer sample
Q8WW27	ABEC4_HUMAN	275	P	S	Polymorphism	-
Q8WW27	ABEC4_HUMAN	271	F	S	Polymorphism	-
Q8WW27	ABEC4_HUMAN	300	D	G	Polymorphism	-
Q8WW27	ABEC4_HUMAN	75	S	F	Polymorphism	-
Q8WW27	ABEC4_HUMAN	345	V	M	Polymorphism	-
Q8WW27	ABEC4_HUMAN	331	K	E	Polymorphism	-
Q8WW32	HMGB4_HUMAN	92	E	A	Polymorphism	-
Q8WW32	HMGB4_HUMAN	59	K	R	Polymorphism	-
Q8WW32	HMGB4_HUMAN	170	Y	H	Polymorphism	-
Q8WW38	FOG2_HUMAN	657	S	G	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
Q8WW38	FOG2_HUMAN	782	E	D	Polymorphism	-
Q8WW38	FOG2_HUMAN	1055	A	V	Polymorphism	-
Q8WW38	FOG2_HUMAN	402	S	R	Disease	46,XY sex reversal 9 (SRXY9) [MIM:616067]
Q8WW38	FOG2_HUMAN	260	R	Q	Disease	46,XY sex reversal 9 (SRXY9) [MIM:616067]
Q8WW38	FOG2_HUMAN	30	E	G	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
Q8WW38	FOG2_HUMAN	544	M	I	Disease	46,XY sex reversal 9 (SRXY9) [MIM:616067]
Q8WW38	FOG2_HUMAN	403	A	G	Polymorphism	-
Q8WW38	FOG2_HUMAN	227	I	V	Disease	Conotruncal heart malformations (CTHM) [MIM:217095]
Q8WW38	FOG2_HUMAN	544	M	I	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
Q8WW38	FOG2_HUMAN	30	E	G	Disease	Conotruncal heart malformations (CTHM) [MIM:217095]
Q8WW43	APH1B_HUMAN	217	F	L	Polymorphism	-
Q8WW52	F151A_HUMAN	119	I	T	Polymorphism	-
Q8WW52	F151A_HUMAN	526	G	A	Polymorphism	-
Q8WW52	F151A_HUMAN	546	G	D	Polymorphism	-
Q8WW52	F151A_HUMAN	416	A	V	Polymorphism	-
Q8WW52	F151A_HUMAN	87	N	D	Polymorphism	-
Q8WW52	F151A_HUMAN	51	D	N	Polymorphism	-
Q8WW59	SPRY4_HUMAN	50	M	T	Polymorphism	-
Q8WWA0	ITLN1_HUMAN	313	R	P	Polymorphism	-
Q8WWA0	ITLN1_HUMAN	109	V	D	Polymorphism	-
Q8WWB5	PIHD2_HUMAN	117	A	V	Polymorphism	-
Q8WWB7	GLMP_HUMAN	203	P	S	Polymorphism	-
Q8WWB7	GLMP_HUMAN	223	I	V	Polymorphism	-
Q8WWB7	GLMP_HUMAN	94	V	I	Polymorphism	-
Q8WWC4	MAIP1_HUMAN	290	L	I	Polymorphism	-
Q8WWF3	SSMM1_HUMAN	88	R	W	Polymorphism	-
Q8WWF5	ZNRF4_HUMAN	100	V	I	Polymorphism	-
Q8WWF5	ZNRF4_HUMAN	192	D	N	Polymorphism	-
Q8WWF5	ZNRF4_HUMAN	163	R	H	Polymorphism	-
Q8WWF5	ZNRF4_HUMAN	159	V	A	Polymorphism	-
Q8WWF5	ZNRF4_HUMAN	37	P	S	Polymorphism	-
Q8WWF5	ZNRF4_HUMAN	78	R	Q	Polymorphism	-
Q8WWF5	ZNRF4_HUMAN	163	R	C	Polymorphism	-
Q8WWF5	ZNRF4_HUMAN	157	A	S	Polymorphism	-
Q8WWF6	DNJB3_HUMAN	85	D	E	Polymorphism	-
Q8WWF6	DNJB3_HUMAN	98	D	E	Polymorphism	-
Q8WWF8	CAPSL_HUMAN	201	M	V	Polymorphism	-
Q8WWF8	CAPSL_HUMAN	85	R	Q	Polymorphism	-
Q8WWG9	KCNE4_HUMAN	196	D	E	Polymorphism	-
Q8WWG9	KCNE4_HUMAN	98	G	S	Polymorphism	-
Q8WWH4	ASZ1_HUMAN	216	K	T	Polymorphism	-
Q8WWH5	TRUB1_HUMAN	103	E	A	Polymorphism	-
Q8WWH5	TRUB1_HUMAN	167	R	K	Polymorphism	-
Q8WWI1	LMO7_HUMAN	1547	P	Q	Polymorphism	-
Q8WWI1	LMO7_HUMAN	354	T	A	Unclassified	A colorectal cancer sample
Q8WWI1	LMO7_HUMAN	785	L	M	Unclassified	A colorectal cancer sample
Q8WWI5	CTL1_HUMAN	644	S	A	Polymorphism	-
Q8WWK9	CKAP2_HUMAN	323	I	V	Polymorphism	-
Q8WWK9	CKAP2_HUMAN	236	M	K	Polymorphism	-
Q8WWL7	CCNB3_HUMAN	1001	G	R	Polymorphism	-
Q8WWL7	CCNB3_HUMAN	597	K	T	Unclassified	A colorectal cancer sample
Q8WWN8	ARAP3_HUMAN	1085	I	M	Unclassified	A breast cancer sample
Q8WWN8	ARAP3_HUMAN	1428	T	P	Unclassified	A breast cancer sample
Q8WWN8	ARAP3_HUMAN	218	D	H	Polymorphism	-
Q8WWN8	ARAP3_HUMAN	471	R	W	Unclassified	A colorectal cancer sample
Q8WWN9	ICEF1_HUMAN	194	S	P	Polymorphism	-
Q8WWP7	GIMA1_HUMAN	166	V	E	Unclassified	A breast cancer sample
Q8WWP7	GIMA1_HUMAN	254	R	S	Polymorphism	-
Q8WWQ0	PHIP_HUMAN	17	F	S	Unclassified	Developmental delay, intellectual disability, obesity, and dysmorphic features (DIDOD) [MIM:617991]
Q8WWQ0	PHIP_HUMAN	110	R	S	Unclassified	Developmental delay, intellectual disability, obesity, and dysmorphic features (DIDOD) [MIM:617991]
Q8WWQ0	PHIP_HUMAN	1135	T	P	Polymorphism	-
Q8WWQ0	PHIP_HUMAN	1093	L	P	Polymorphism	-
Q8WWQ0	PHIP_HUMAN	663	V	G	Polymorphism	-
Q8WWQ0	PHIP_HUMAN	110	R	C	Unclassified	Developmental delay, intellectual disability, obesity, and dysmorphic features (DIDOD) [MIM:617991]
Q8WWQ0	PHIP_HUMAN	1767	R	I	Unclassified	A colorectal cancer sample
Q8WWQ0	PHIP_HUMAN	874	T	I	Polymorphism	-
Q8WWQ0	PHIP_HUMAN	1263	Q	E	Unclassified	Developmental delay, intellectual disability, obesity, and dysmorphic features (DIDOD) [MIM:617991]
Q8WWQ0	PHIP_HUMAN	1445	N	T	Polymorphism	-
Q8WWQ0	PHIP_HUMAN	469	V	I	Unclassified	A colorectal cancer sample
Q8WWQ2	HPSE2_HUMAN	579	Y	F	Polymorphism	-
Q8WWQ2	HPSE2_HUMAN	315	A	T	Polymorphism	-
Q8WWQ8	STAB2_HUMAN	881	R	H	Polymorphism	-
Q8WWQ8	STAB2_HUMAN	787	R	Q	Polymorphism	-
Q8WWQ8	STAB2_HUMAN	1736	N	T	Polymorphism	-
Q8WWQ8	STAB2_HUMAN	2039	P	T	Polymorphism	-
Q8WWQ8	STAB2_HUMAN	110	I	V	Polymorphism	-
Q8WWQ8	STAB2_HUMAN	306	E	K	Polymorphism	-
Q8WWQ8	STAB2_HUMAN	2519	Y	S	Polymorphism	-
Q8WWQ8	STAB2_HUMAN	510	P	H	Polymorphism	-
Q8WWQ8	STAB2_HUMAN	2401	L	V	Polymorphism	-
Q8WWR8	NEUR4_HUMAN	301	G	R	Polymorphism	-
Q8WWU5	TCP11_HUMAN	253	G	A	Polymorphism	-
Q8WWU5	TCP11_HUMAN	429	R	Q	Polymorphism	-
Q8WWU7	ITLN2_HUMAN	171	Q	R	Polymorphism	-
Q8WWU7	ITLN2_HUMAN	103	R	H	Polymorphism	-
Q8WWV3	RT4I1_HUMAN	103	R	H	Disease	Optic atrophy 10 with or without ataxia, mental retardation, and seizures (OPA10) [MIM:616732]
Q8WWW8	GAB3_HUMAN	237	P	S	Polymorphism	-
Q8WWX8	SC5AB_HUMAN	258	F	L	Polymorphism	-
Q8WWX8	SC5AB_HUMAN	539	V	M	Polymorphism	-
Q8WWX8	SC5AB_HUMAN	526	M	I	Polymorphism	-
Q8WWX8	SC5AB_HUMAN	47	T	P	Polymorphism	-
Q8WWX8	SC5AB_HUMAN	452	Q	R	Polymorphism	-
Q8WWX8	SC5AB_HUMAN	182	V	A	Polymorphism	-
Q8WWY3	PRP31_HUMAN	194	A	E	Disease	Retinitis pigmentosa 11 (RP11) [MIM:600138]
Q8WWY3	PRP31_HUMAN	216	A	P	Disease	Retinitis pigmentosa 11 (RP11) [MIM:600138]
Q8WWY6	MB3L1_HUMAN	190	R	C	Polymorphism	-
Q8WWY8	LIPH_HUMAN	108	W	R	Disease	Hypotrichosis 7 (HYPT7) [MIM:604379]
Q8WWY8	LIPH_HUMAN	108	W	R	Disease	Woolly hair autosomal recessive 2 (ARWH2) [MIM:604379]
Q8WWZ1	IL1FA_HUMAN	51	A	D	Polymorphism	-
Q8WWZ1	IL1FA_HUMAN	44	I	T	Polymorphism	-
Q8WWZ3	EDAD_HUMAN	114	D	Y	Disease	Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940]
Q8WWZ3	EDAD_HUMAN	122	L	R	Disease	Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940]
Q8WWZ3	EDAD_HUMAN	152	E	K	Disease	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B) [MIM:614941]
Q8WWZ3	EDAD_HUMAN	103	S	F	Polymorphism	-
Q8WWZ3	EDAD_HUMAN	9	M	I	Polymorphism	-
Q8WWZ4	ABCAA_HUMAN	916	M	T	Polymorphism	-
Q8WWZ4	ABCAA_HUMAN	203	P	S	Polymorphism	-
Q8WWZ4	ABCAA_HUMAN	1322	R	W	Polymorphism	-
Q8WWZ4	ABCAA_HUMAN	287	I	V	Polymorphism	-
Q8WWZ7	ABCA5_HUMAN	93	Q	K	Polymorphism	-
Q8WWZ7	ABCA5_HUMAN	832	A	S	Polymorphism	-
Q8WWZ7	ABCA5_HUMAN	753	M	V	Polymorphism	-
Q8WWZ7	ABCA5_HUMAN	1260	D	G	Polymorphism	-
Q8WWZ7	ABCA5_HUMAN	178	A	T	Polymorphism	-
Q8WWZ7	ABCA5_HUMAN	484	Q	R	Polymorphism	-
Q8WWZ7	ABCA5_HUMAN	960	M	V	Polymorphism	-
Q8WWZ8	OIT3_HUMAN	237	S	P	Polymorphism	-
Q8WX39	LCN9_HUMAN	90	C	F	Polymorphism	-
Q8WX39	LCN9_HUMAN	65	H	Y	Polymorphism	-
Q8WX93	PALLD_HUMAN	224	M	I	Polymorphism	-
Q8WX93	PALLD_HUMAN	224	M	T	Polymorphism	-
Q8WX94	NALP7_HUMAN	761	C	Y	Disease	Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
Q8WX94	NALP7_HUMAN	971	T	A	Polymorphism	-
Q8WX94	NALP7_HUMAN	693	R	W	Disease	Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
Q8WX94	NALP7_HUMAN	319	V	I	Polymorphism	-
Q8WX94	NALP7_HUMAN	716	P	A	Disease	Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
Q8WX94	NALP7_HUMAN	487	G	E	Polymorphism	-
Q8WX94	NALP7_HUMAN	913	N	S	Disease	Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
Q8WX94	NALP7_HUMAN	693	R	Q	Disease	Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
Q8WX94	NALP7_HUMAN	693	R	P	Disease	Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
Q8WX94	NALP7_HUMAN	651	P	S	Disease	Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
Q8WX94	NALP7_HUMAN	721	R	W	Disease	Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
Q8WX94	NALP7_HUMAN	398	L	R	Disease	Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
Q8WXA2	PATE1_HUMAN	46	V	I	Polymorphism	-
Q8WXA2	PATE1_HUMAN	47	Q	R	Polymorphism	-
Q8WXA3	RUFY2_HUMAN	573	C	S	Polymorphism	-
Q8WXA8	5HT3C_HUMAN	163	N	K	Polymorphism	-
Q8WXA8	5HT3C_HUMAN	405	G	A	Polymorphism	-
Q8WXA8	5HT3C_HUMAN	128	V	M	Unclassified	A colorectal cancer sample
Q8WXB1	MT21A_HUMAN	192	T	I	Polymorphism	-
Q8WXB4	ZN606_HUMAN	141	S	G	Polymorphism	-
Q8WXD0	RXFP2_HUMAN	222	T	P	Disease	Cryptorchidism (CRYPTO) [MIM:219050]
Q8WXD0	RXFP2_HUMAN	604	I	V	Polymorphism	-
Q8WXD2	SCG3_HUMAN	233	M	V	Polymorphism	-
Q8WXD2	SCG3_HUMAN	125	S	N	Polymorphism	-
Q8WXD2	SCG3_HUMAN	167	V	A	Polymorphism	-
Q8WXD5	GEMI6_HUMAN	140	G	D	Polymorphism	-
Q8WXE0	CSKI2_HUMAN	891	E	G	Polymorphism	-
Q8WXE1	ATRIP_HUMAN	240	P	L	Polymorphism	-
Q8WXE1	ATRIP_HUMAN	125	K	Q	Polymorphism	-
Q8WXE9	STON2_HUMAN	646	R	H	Polymorphism	-
Q8WXE9	STON2_HUMAN	694	T	A	Polymorphism	-
Q8WXE9	STON2_HUMAN	307	S	P	Polymorphism	-
Q8WXE9	STON2_HUMAN	851	S	A	Polymorphism	-
Q8WXF7	ATLA1_HUMAN	408	M	V	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	415	R	W	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	43	D	E	Polymorphism	-
Q8WXF7	ATLA1_HUMAN	66	E	Q	Disease	Neuropathy, hereditary sensory, 1D (HSN1D) [MIM:613708]
Q8WXF7	ATLA1_HUMAN	118	R	Q	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	258	H	R	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	415	R	Q	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	247	H	P	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	196	Y	C	Unclassified	-
Q8WXF7	ATLA1_HUMAN	416	R	C	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	355	N	K	Disease	Neuropathy, hereditary sensory, 1D (HSN1D) [MIM:613708]
Q8WXF7	ATLA1_HUMAN	154	Q	E	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	193	F	C	Polymorphism	-
Q8WXF7	ATLA1_HUMAN	161	A	P	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	157	L	W	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	217	R	Q	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	440	N	T	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	495	R	W	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	239	R	C	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	413	F	V	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	253	V	I	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXF7	ATLA1_HUMAN	259	S	Y	Disease	Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]
Q8WXG1	RSAD2_HUMAN	52	V	I	Polymorphism	-
Q8WXG1	RSAD2_HUMAN	42	L	R	Polymorphism	-
Q8WXG6	MADD_HUMAN	1040	L	F	Polymorphism	-
Q8WXG6	MADD_HUMAN	751	V	M	Polymorphism	-
Q8WXG6	MADD_HUMAN	765	R	Q	Polymorphism	-
Q8WXG6	MADD_HUMAN	696	P	T	Polymorphism	-
Q8WXG6	MADD_HUMAN	968	R	G	Polymorphism	-
Q8WXG6	MADD_HUMAN	1518	L	P	Polymorphism	-
Q8WXG8	S100Z_HUMAN	23	E	A	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	1987	P	L	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	1093	L	F	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	1985	N	D	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	1187	I	V	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	2379	G	A	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	551	V	A	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	3471	E	K	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	1951	V	I	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	2345	N	S	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	2584	N	S	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	2004	L	F	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	2803	A	T	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	249	R	K	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	2097	R	C	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	3217	A	V	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	2232	Y	C	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	3347	F	L	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	5437	T	A	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	127	L	R	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	1916	T	I	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	1927	T	M	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	5344	E	G	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	3868	E	A	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	3094	V	I	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	4789	R	W	Disease	Usher syndrome 2C (USH2C) [MIM:605472]
Q8WXG9	AGRV1_HUMAN	3867	E	A	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	2764	S	L	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	3248	G	D	Polymorphism	-
Q8WXG9	AGRV1_HUMAN	5978	H	R	Disease	Usher syndrome 2C (USH2C) [MIM:605472]
Q8WXH0	SYNE2_HUMAN	6200	Y	C	Unclassified	A breast cancer sample
Q8WXH0	SYNE2_HUMAN	8	P	S	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	5940	V	I	Unclassified	A breast cancer sample
Q8WXH0	SYNE2_HUMAN	2284	A	V	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	2347	A	E	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	432	S	R	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	2490	V	G	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	2358	N	S	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	2801	G	S	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	6697	R	W	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	5186	L	M	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	2395	A	T	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	2359	S	N	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	3130	N	S	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	1393	R	W	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	2359	S	G	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	2802	S	G	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	2394	A	T	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	5547	D	N	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	2564	I	V	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	3309	H	R	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	3026	E	D	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	6211	T	M	Disease	Emery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5) [MIM:612999]
Q8WXH0	SYNE2_HUMAN	3253	D	H	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	4041	R	H	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	574	I	T	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	3523	K	Q	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	6155	A	V	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	4912	P	A	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	6681	K	E	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	3982	N	H	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	2942	I	V	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	5086	H	Y	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	4913	E	K	Polymorphism	-
Q8WXH0	SYNE2_HUMAN	1969	M	T	Polymorphism	-
Q8WXH2	JPH3_HUMAN	472	P	T	Polymorphism	-
Q8WXH2	JPH3_HUMAN	376	I	T	Polymorphism	-
Q8WXH2	JPH3_HUMAN	645	P	L	Polymorphism	-
Q8WXH4	ASB11_HUMAN	165	S	L	Polymorphism	-
Q8WXH4	ASB11_HUMAN	249	D	N	Polymorphism	-
Q8WXH4	ASB11_HUMAN	263	S	G	Polymorphism	-
Q8WXH6	RB40A_HUMAN	45	H	L	Polymorphism	-
Q8WXI2	CNKR2_HUMAN	46	R	H	Unclassified	A colorectal cancer sample
Q8WXI3	ASB10_HUMAN	91	D	Y	Polymorphism	-
Q8WXI3	ASB10_HUMAN	48	T	S	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	453	R	C	Polymorphism	-
Q8WXI3	ASB10_HUMAN	88	D	V	Polymorphism	-
Q8WXI3	ASB10_HUMAN	65	G	E	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	237	R	G	Polymorphism	-
Q8WXI3	ASB10_HUMAN	329	T	M	Polymorphism	-
Q8WXI3	ASB10_HUMAN	172	A	V	Polymorphism	-
Q8WXI3	ASB10_HUMAN	272	R	H	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	332	H	Q	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	402	P	T	Polymorphism	-
Q8WXI3	ASB10_HUMAN	207	V	L	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	183	R	C	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	189	R	W	Polymorphism	-
Q8WXI3	ASB10_HUMAN	67	V	M	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	372	R	C	Polymorphism	-
Q8WXI3	ASB10_HUMAN	320	A	T	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	295	Q	L	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	360	R	H	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	304	R	C	Polymorphism	-
Q8WXI3	ASB10_HUMAN	72	R	H	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	97	D	E	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	94	R	Q	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	440	S	G	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	197	A	V	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI3	ASB10_HUMAN	356	H	Y	Unclassified	Glaucoma 1, open angle, F (GLC1F) [MIM:603383]
Q8WXI4	ACO11_HUMAN	536	R	H	Polymorphism	-
Q8WXI4	ACO11_HUMAN	165	P	L	Polymorphism	-
Q8WXI4	ACO11_HUMAN	11	R	W	Polymorphism	-
Q8WXI4	ACO11_HUMAN	202	G	D	Polymorphism	-
Q8WXI4	ACO11_HUMAN	212	M	I	Polymorphism	-
Q8WXI7	MUC16_HUMAN	1833	L	F	Polymorphism	-
Q8WXI7	MUC16_HUMAN	2150	I	V	Polymorphism	-
Q8WXI7	MUC16_HUMAN	2271	T	A	Polymorphism	-
Q8WXI7	MUC16_HUMAN	1041	P	S	Polymorphism	-
Q8WXI7	MUC16_HUMAN	2356	D	E	Polymorphism	-
Q8WXI7	MUC16_HUMAN	1162	T	I	Polymorphism	-
Q8WXI7	MUC16_HUMAN	1266	K	N	Polymorphism	-
Q8WXI7	MUC16_HUMAN	545	T	A	Polymorphism	-
Q8WXI7	MUC16_HUMAN	5741	H	D	Polymorphism	-
Q8WXI7	MUC16_HUMAN	5852	F	V	Polymorphism	-
Q8WXI7	MUC16_HUMAN	2747	A	T	Polymorphism	-
Q8WXI7	MUC16_HUMAN	3573	R	H	Polymorphism	-
Q8WXI7	MUC16_HUMAN	7063	T	A	Polymorphism	-
Q8WXI7	MUC16_HUMAN	2786	M	I	Polymorphism	-
Q8WXI7	MUC16_HUMAN	2834	T	M	Polymorphism	-
Q8WXI7	MUC16_HUMAN	1032	S	T	Polymorphism	-
Q8WXI7	MUC16_HUMAN	1015	R	G	Polymorphism	-
Q8WXI7	MUC16_HUMAN	5754	A	T	Polymorphism	-
Q8WXI7	MUC16_HUMAN	7272	I	V	Polymorphism	-
Q8WXI7	MUC16_HUMAN	1953	S	P	Polymorphism	-
Q8WXI7	MUC16_HUMAN	2288	V	L	Polymorphism	-
Q8WXI7	MUC16_HUMAN	10507	T	N	Polymorphism	-
Q8WXI7	MUC16_HUMAN	1400	K	N	Polymorphism	-
Q8WXI7	MUC16_HUMAN	1353	H	Y	Polymorphism	-
Q8WXI7	MUC16_HUMAN	2058	S	P	Polymorphism	-
Q8WXI8	CLC4D_HUMAN	32	S	G	Polymorphism	-
Q8WXI9	P66B_HUMAN	586	S	L	Polymorphism	-
Q8WXI9	P66B_HUMAN	316	I	V	Polymorphism	-
Q8WXJ9	ASB17_HUMAN	101	V	A	Polymorphism	-
Q8WXJ9	ASB17_HUMAN	2	S	N	Polymorphism	-
Q8WXK1	ASB15_HUMAN	357	G	A	Polymorphism	-
Q8WXK1	ASB15_HUMAN	57	P	L	Polymorphism	-
Q8WXQ8	CBPA5_HUMAN	336	L	S	Polymorphism	-
Q8WXQ8	CBPA5_HUMAN	378	S	G	Polymorphism	-
Q8WXQ8	CBPA5_HUMAN	338	E	D	Polymorphism	-
Q8WXQ8	CBPA5_HUMAN	79	P	S	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	275	I	V	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	770	V	I	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	21	P	S	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	406	A	T	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	352	E	Q	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	185	R	H	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	773	E	G	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	1137	V	I	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	388	N	S	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	267	N	S	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	638	Q	P	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	990	R	C	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	309	K	E	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	316	H	L	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	798	E	K	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	918	R	Q	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	1092	I	V	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	969	S	C	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	1165	R	C	Polymorphism	-
Q8WXR4	MYO3B_HUMAN	1082	R	K	Polymorphism	-
Q8WXS3	BAALC_HUMAN	164	S	T	Polymorphism	-
Q8WXS8	ATS14_HUMAN	179	R	C	Polymorphism	-
Q8WXS8	ATS14_HUMAN	1017	S	N	Polymorphism	-
Q8WXS8	ATS14_HUMAN	937	L	M	Polymorphism	-
Q8WXS8	ATS14_HUMAN	1049	E	G	Polymorphism	-
Q8WXS8	ATS14_HUMAN	590	L	P	Polymorphism	-
Q8WXU2	DAAF4_HUMAN	332	A	V	Polymorphism	-
Q8WXU2	DAAF4_HUMAN	2	P	S	Polymorphism	-
Q8WXU2	DAAF4_HUMAN	38	N	K	Polymorphism	-
Q8WXU2	DAAF4_HUMAN	91	V	I	Polymorphism	-
Q8WXU2	DAAF4_HUMAN	420	S	C	Polymorphism	-
Q8WXU2	DAAF4_HUMAN	191	E	G	Polymorphism	-
Q8WXW3	PIBF1_HUMAN	637	D	A	Disease	Joubert syndrome 33 (JBTS33) [MIM:617767]
Q8WXW3	PIBF1_HUMAN	89	E	Q	Disease	-
Q8WXW3	PIBF1_HUMAN	630	I	V	Polymorphism	-
Q8WXW3	PIBF1_HUMAN	167	I	V	Polymorphism	-
Q8WXW3	PIBF1_HUMAN	405	R	Q	Disease	Joubert syndrome 33 (JBTS33) [MIM:617767]
Q8WXX0	DYH7_HUMAN	2809	I	V	Polymorphism	-
Q8WXX0	DYH7_HUMAN	169	H	P	Polymorphism	-
Q8WXX0	DYH7_HUMAN	3319	L	P	Polymorphism	-
Q8WXX0	DYH7_HUMAN	1940	P	L	Polymorphism	-
Q8WXX0	DYH7_HUMAN	565	D	H	Polymorphism	-
Q8WXX0	DYH7_HUMAN	280	A	T	Polymorphism	-
Q8WXX0	DYH7_HUMAN	438	S	N	Polymorphism	-
Q8WXX0	DYH7_HUMAN	3386	R	H	Polymorphism	-
Q8WXX0	DYH7_HUMAN	825	K	E	Polymorphism	-
Q8WXX0	DYH7_HUMAN	1886	R	Q	Polymorphism	-
Q8WXX0	DYH7_HUMAN	315	I	V	Polymorphism	-
Q8WXX0	DYH7_HUMAN	1422	P	T	Polymorphism	-
Q8WXX0	DYH7_HUMAN	2569	T	I	Polymorphism	-
Q8WXX0	DYH7_HUMAN	675	K	E	Polymorphism	-
Q8WXX0	DYH7_HUMAN	545	R	C	Polymorphism	-
Q8WXX0	DYH7_HUMAN	1971	P	L	Polymorphism	-
Q8WXX0	DYH7_HUMAN	2459	N	K	Polymorphism	-
Q8WXX0	DYH7_HUMAN	2020	M	T	Polymorphism	-
Q8WXX0	DYH7_HUMAN	1525	E	K	Polymorphism	-
Q8WXX7	AUTS2_HUMAN	303	A	S	Polymorphism	-
Q8WY07	CTR3_HUMAN	508	L	V	Polymorphism	-
Q8WY07	CTR3_HUMAN	356	M	K	Unclassified	-
Q8WY21	SORC1_HUMAN	223	K	N	Unclassified	A breast cancer sample
Q8WY36	BBX_HUMAN	576	P	S	Polymorphism	-
Q8WY41	NANO1_HUMAN	276	R	Y	Unclassified	-
Q8WY41	NANO1_HUMAN	246	R	H	Unclassified	-
Q8WY41	NANO1_HUMAN	34	P	T	Polymorphism	-
Q8WY54	PPM1E_HUMAN	222	L	S	Unclassified	A breast cancer sample
Q8WY54	PPM1E_HUMAN	311	R	G	Unclassified	A breast cancer sample
Q8WY64	MYLIP_HUMAN	342	N	S	Polymorphism	-
Q8WY91	THAP4_HUMAN	121	S	G	Polymorphism	-
Q8WYA0	IFT81_HUMAN	29	L	F	Disease	Short-rib thoracic dysplasia 19 with or without polydactyly (SRTD19) [MIM:617895]
Q8WYA1	BMAL2_HUMAN	340	N	S	Polymorphism	-
Q8WYA1	BMAL2_HUMAN	574	A	V	Polymorphism	-
Q8WYA6	CTBL1_HUMAN	507	N	D	Polymorphism	-
Q8WYB5	KAT6B_HUMAN	1217	A	S	Polymorphism	-
Q8WYB5	KAT6B_HUMAN	360	E	K	Polymorphism	-
Q8WYB5	KAT6B_HUMAN	1499	V	I	Polymorphism	-
Q8WYB5	KAT6B_HUMAN	483	T	A	Unclassified	A breast cancer sample
Q8WYJ6	SEPT1_HUMAN	80	G	V	Polymorphism	-
Q8WYK0	ACO12_HUMAN	190	L	H	Unclassified	-
Q8WYK0	ACO12_HUMAN	403	A	T	Polymorphism	-
Q8WYK0	ACO12_HUMAN	230	V	I	Polymorphism	-
Q8WYK1	CNTP5_HUMAN	452	S	L	Polymorphism	-
Q8WYK1	CNTP5_HUMAN	1195	T	M	Polymorphism	-
Q8WYK2	JDP2_HUMAN	13	T	A	Polymorphism	-
Q8WYN3	CSRN3_HUMAN	474	P	L	Unclassified	A colorectal cancer sample
Q8WYP3	RIN2_HUMAN	643	A	T	Polymorphism	-
Q8WYP3	RIN2_HUMAN	197	S	T	Polymorphism	-
Q8WYP5	ELYS_HUMAN	2185	L	V	Polymorphism	-
Q8WYP5	ELYS_HUMAN	874	N	S	Polymorphism	-
Q8WYQ3	CHC10_HUMAN	58	G	R	Disease	Myopathy, isolated mitochondrial, autosomal dominant (IMMD) [MIM:616209]
Q8WYQ3	CHC10_HUMAN	59	S	L	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) [MIM:615911]
Q8WYQ3	CHC10_HUMAN	66	G	V	Disease	Spinal muscular atrophy, Jokela type (SMAJ) [MIM:615048]
Q8WYQ3	CHC10_HUMAN	15	R	S	Unclassified	Myopathy, isolated mitochondrial, autosomal dominant (IMMD) [MIM:616209]
Q8WYQ3	CHC10_HUMAN	34	P	S	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) [MIM:615911]
Q8WYQ5	DGCR8_HUMAN	174	I	V	Polymorphism	-
Q8WYQ5	DGCR8_HUMAN	725	N	D	Polymorphism	-
Q8WYQ9	ZCH14_HUMAN	244	G	A	Polymorphism	-
Q8WYQ9	ZCH14_HUMAN	290	L	V	Unclassified	A breast cancer sample
Q8WYQ9	ZCH14_HUMAN	693	V	M	Polymorphism	-
Q8WYQ9	ZCH14_HUMAN	54	I	V	Polymorphism	-
Q8WYR1	PI3R5_HUMAN	629	P	S	Disease	Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217]
Q8WYR1	PI3R5_HUMAN	28	R	C	Unclassified	A colorectal cancer sample
Q8WYR4	RSPH1_HUMAN	103	G	D	Disease	Ciliary dyskinesia, primary, 24 (CILD24) [MIM:615481]
Q8WZ04	TOMT_HUMAN	158	R	H	Disease	Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]
Q8WZ04	TOMT_HUMAN	208	R	Q	Disease	Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]
Q8WZ04	TOMT_HUMAN	110	E	K	Disease	Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]
Q8WZ04	TOMT_HUMAN	16	L	P	Disease	Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]
Q8WZ04	TOMT_HUMAN	52	R	W	Unclassified	Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]
Q8WZ04	TOMT_HUMAN	105	W	R	Disease	Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]
Q8WZ04	TOMT_HUMAN	81	R	Q	Disease	Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]
Q8WZ19	BACD1_HUMAN	200	D	N	Unclassified	-
Q8WZ42	TITIN_HUMAN	34306	I	N	Disease	Tardive tibial muscular dystrophy (TMD) [MIM:600334]
Q8WZ42	TITIN_HUMAN	21403	P	S	Polymorphism	-
Q8WZ42	TITIN_HUMAN	14750	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	799	T	M	Unclassified	A colorectal adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	811	T	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	21747	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	21851	C	R	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	21925	G	R	Polymorphism	-
Q8WZ42	TITIN_HUMAN	21125	D	E	Polymorphism	-
Q8WZ42	TITIN_HUMAN	24098	A	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	19992	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	498	V	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	32742	E	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3191	Q	E	Polymorphism	-
Q8WZ42	TITIN_HUMAN	976	W	R	Disease	Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]
Q8WZ42	TITIN_HUMAN	2831	S	N	Polymorphism	-
Q8WZ42	TITIN_HUMAN	25720	P	A	Polymorphism	-
Q8WZ42	TITIN_HUMAN	743	A	V	Disease	Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]
Q8WZ42	TITIN_HUMAN	20359	R	K	Polymorphism	-
Q8WZ42	TITIN_HUMAN	19495	D	G	Polymorphism	-
Q8WZ42	TITIN_HUMAN	19665	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	20726	S	P	Polymorphism	-
Q8WZ42	TITIN_HUMAN	19762	T	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	16046	G	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	34315	L	P	Disease	Tardive tibial muscular dystrophy (TMD) [MIM:600334]
Q8WZ42	TITIN_HUMAN	2610	M	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	23939	T	M	Polymorphism	-
Q8WZ42	TITIN_HUMAN	22261	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	20894	S	R	Polymorphism	-
Q8WZ42	TITIN_HUMAN	25821	T	K	Polymorphism	-
Q8WZ42	TITIN_HUMAN	2771	I	M	Unclassified	A breast infiltrating ductal carcinoma sample
Q8WZ42	TITIN_HUMAN	13785	N	S	Unclassified	A breast pleomorphic lobular carcinoma sample
Q8WZ42	TITIN_HUMAN	13434	R	K	Unclassified	A breast pleomorphic lobular carcinoma sample
Q8WZ42	TITIN_HUMAN	740	R	L	Disease	Cardiomyopathy, familial hypertrophic 9 (CMH9) [MIM:613765]
Q8WZ42	TITIN_HUMAN	28948	A	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	16058	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	328	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	28538	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	27346	K	R	Polymorphism	-
Q8WZ42	TITIN_HUMAN	24980	T	M	Polymorphism	-
Q8WZ42	TITIN_HUMAN	32996	R	Q	Disease	Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]
Q8WZ42	TITIN_HUMAN	22160	V	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	2963	T	P	Polymorphism	-
Q8WZ42	TITIN_HUMAN	13870	Q	H	Unclassified	A lung small cell carcinoma sample
Q8WZ42	TITIN_HUMAN	13495	K	N	Polymorphism	-
Q8WZ42	TITIN_HUMAN	2930	V	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	20057	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	12383	H	R	Polymorphism	-
Q8WZ42	TITIN_HUMAN	2392	G	S	Polymorphism	-
Q8WZ42	TITIN_HUMAN	26045	V	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	24799	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	22646	L	P	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	30674	T	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	27929	I	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3570	E	K	Unclassified	A breast pleomorphic lobular carcinoma sample
Q8WZ42	TITIN_HUMAN	2823	V	F	Polymorphism	-
Q8WZ42	TITIN_HUMAN	14131	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	23952	F	L	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	22306	K	N	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3154	K	R	Polymorphism	-
Q8WZ42	TITIN_HUMAN	19956	V	M	Polymorphism	-
Q8WZ42	TITIN_HUMAN	15837	I	M	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1544	I	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	25659	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	27652	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	26477	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30617	T	S	Unclassified	A renal chromophobe cancer sample
Q8WZ42	TITIN_HUMAN	360	R	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3250	V	G	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3261	V	M	Polymorphism	-
Q8WZ42	TITIN_HUMAN	22357	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3491	P	S	Polymorphism	-
Q8WZ42	TITIN_HUMAN	13469	D	N	Polymorphism	-
Q8WZ42	TITIN_HUMAN	20179	T	K	Polymorphism	-
Q8WZ42	TITIN_HUMAN	4303	G	D	Polymorphism	-
Q8WZ42	TITIN_HUMAN	2240	D	Y	Polymorphism	-
Q8WZ42	TITIN_HUMAN	25679	A	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	14999	S	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	15021	N	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30907	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	16409	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	4084	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3762	I	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	21730	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	28168	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	22408	L	P	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3238	P	L	Unclassified	A bladder carcinoma sample
Q8WZ42	TITIN_HUMAN	22537	Q	H	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	22584	P	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1572	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	25879	N	K	Polymorphism	-
Q8WZ42	TITIN_HUMAN	33899	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	27728	G	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	16424	R	P	Polymorphism	-
Q8WZ42	TITIN_HUMAN	60	D	Y	Polymorphism	-
Q8WZ42	TITIN_HUMAN	115	V	M	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	3799	S	Y	Disease	Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]
Q8WZ42	TITIN_HUMAN	31330	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3877	I	F	Polymorphism	-
Q8WZ42	TITIN_HUMAN	14109	V	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	13418	A	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	20075	S	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	22149	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	21995	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	34115	V	A	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30809	V	I	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	1692	G	D	Unclassified	A lung squamous cell carcinoma sample
Q8WZ42	TITIN_HUMAN	30887	G	D	Polymorphism	-
Q8WZ42	TITIN_HUMAN	28993	G	E	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30211	L	P	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30897	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	15705	L	P	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3590	L	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3482	E	K	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	3367	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	33955	T	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	26843	D	Y	Polymorphism	-
Q8WZ42	TITIN_HUMAN	12642	R	C	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	28132	I	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	15700	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30825	E	K	Polymorphism	-
Q8WZ42	TITIN_HUMAN	15520	A	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30412	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	31124	A	G	Polymorphism	-
Q8WZ42	TITIN_HUMAN	24159	V	A	Unclassified	Neck squamous cell carcinoma sample
Q8WZ42	TITIN_HUMAN	20564	R	K	Polymorphism	-
Q8WZ42	TITIN_HUMAN	20892	T	N	Polymorphism	-
Q8WZ42	TITIN_HUMAN	19947	G	R	Polymorphism	-
Q8WZ42	TITIN_HUMAN	22045	A	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	29090	I	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	33904	L	P	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	8288	A	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	2164	A	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	26059	K	E	Unclassified	A lung small cell carcinoma sample
Q8WZ42	TITIN_HUMAN	30856	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	28998	L	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	24954	D	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	31725	V	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	4465	S	N	Disease	Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]
Q8WZ42	TITIN_HUMAN	29419	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3965	I	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	23872	D	N	Unclassified	An ovarian serous carcinoma sample
Q8WZ42	TITIN_HUMAN	2118	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	13430	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	23807	S	N	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3637	P	S	Polymorphism	-
Q8WZ42	TITIN_HUMAN	16575	V	M	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30818	F	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1658	R	G	Polymorphism	-
Q8WZ42	TITIN_HUMAN	25923	A	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	29880	S	L	Unclassified	A colorectal adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	14728	L	V	Unclassified	A lung adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	13428	E	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	20408	A	T	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	14208	P	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	20331	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30042	S	G	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1249	S	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	12679	K	E	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3026	N	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	27754	F	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	24133	V	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	15555	R	I	Unclassified	A colorectal adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	24119	N	S	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30887	G	S	Polymorphism	-
Q8WZ42	TITIN_HUMAN	28572	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	28986	I	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	12720	S	F	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	23933	Y	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	12469	V	A	Polymorphism	-
Q8WZ42	TITIN_HUMAN	19480	A	S	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	13099	Q	R	Unclassified	A lung small cell carcinoma sample
Q8WZ42	TITIN_HUMAN	22968	E	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	25859	E	K	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	26134	I	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1998	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	15635	Y	C	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	31107	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	16195	R	H	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	20198	A	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	13399	I	M	Polymorphism	-
Q8WZ42	TITIN_HUMAN	20198	A	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	23551	E	Q	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	12798	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	13297	V	A	Polymorphism	-
Q8WZ42	TITIN_HUMAN	24584	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	8474	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1345	G	D	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1295	S	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1081	A	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	19224	P	S	Unclassified	A colorectal adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	29976	D	E	Polymorphism	-
Q8WZ42	TITIN_HUMAN	31732	G	S	Polymorphism	-
Q8WZ42	TITIN_HUMAN	2432	L	F	Unclassified	A lung neuroendocrine carcinoma sample
Q8WZ42	TITIN_HUMAN	20718	V	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	22670	T	A	Polymorphism	-
Q8WZ42	TITIN_HUMAN	13083	E	K	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	19367	T	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	3419	S	N	Polymorphism	-
Q8WZ42	TITIN_HUMAN	33886	E	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	54	V	M	Disease	Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]
Q8WZ42	TITIN_HUMAN	1441	R	P	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1744	P	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	24239	T	A	Polymorphism	-
Q8WZ42	TITIN_HUMAN	31246	P	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	16090	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30107	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30125	S	F	Polymorphism	-
Q8WZ42	TITIN_HUMAN	18881	R	K	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	1347	A	T	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	17637	I	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	23079	L	F	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	23891	V	A	Polymorphism	-
Q8WZ42	TITIN_HUMAN	12657	E	K	Unclassified	A Wilms tumor
Q8WZ42	TITIN_HUMAN	23282	D	N	Unclassified	A breast infiltrating ductal carcinoma sample
Q8WZ42	TITIN_HUMAN	4215	T	P	Polymorphism	-
Q8WZ42	TITIN_HUMAN	31690	C	R	Polymorphism	-
Q8WZ42	TITIN_HUMAN	4238	G	W	Polymorphism	-
Q8WZ42	TITIN_HUMAN	29070	V	M	Polymorphism	-
Q8WZ42	TITIN_HUMAN	29479	L	P	Polymorphism	-
Q8WZ42	TITIN_HUMAN	4291	I	T	Unclassified	A colorectal adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	19091	R	K	Unclassified	A lung large cell carcinoma sample
Q8WZ42	TITIN_HUMAN	18726	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	32637	G	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	33536	V	M	Polymorphism	-
Q8WZ42	TITIN_HUMAN	2107	P	L	Unclassified	A colorectal adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	12310	G	E	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1772	S	G	Polymorphism	-
Q8WZ42	TITIN_HUMAN	22770	A	D	Polymorphism	-
Q8WZ42	TITIN_HUMAN	27755	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	24265	E	K	Polymorphism	-
Q8WZ42	TITIN_HUMAN	19000	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	30946	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	31081	I	F	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1202	V	A	Polymorphism	-
Q8WZ42	TITIN_HUMAN	31156	N	S	Polymorphism	-
Q8WZ42	TITIN_HUMAN	23515	A	S	Unclassified	A lung squamous cell carcinoma sample
Q8WZ42	TITIN_HUMAN	17906	G	E	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	13096	R	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	33419	E	D	Polymorphism	-
Q8WZ42	TITIN_HUMAN	922	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	22801	A	T	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	23074	P	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	18939	N	S	Polymorphism	-
Q8WZ42	TITIN_HUMAN	33242	R	C	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	31886	V	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	16067	K	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	32610	M	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	4427	D	E	Polymorphism	-
Q8WZ42	TITIN_HUMAN	33568	K	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	31724	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	32323	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	15620	R	Q	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1201	K	E	Polymorphism	-
Q8WZ42	TITIN_HUMAN	23303	H	Y	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	1907	T	I	Unclassified	A colorectal adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	32171	T	N	Unclassified	A lung large cell carcinoma sample
Q8WZ42	TITIN_HUMAN	18221	P	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	24098	A	G	Polymorphism	-
Q8WZ42	TITIN_HUMAN	24781	I	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	18835	V	A	Unclassified	A breast infiltrating ductal carcinoma sample
Q8WZ42	TITIN_HUMAN	18164	R	T	Unclassified	An ovarian serous carcinoma sample
Q8WZ42	TITIN_HUMAN	33387	T	M	Polymorphism	-
Q8WZ42	TITIN_HUMAN	32281	Q	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1393	I	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	32558	I	V	Polymorphism	-
Q8WZ42	TITIN_HUMAN	32411	R	W	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	13049	E	G	Polymorphism	-
Q8WZ42	TITIN_HUMAN	937	E	D	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	18094	E	A	Polymorphism	-
Q8WZ42	TITIN_HUMAN	17838	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1350	R	H	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	1353	V	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	33213	V	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	22823	R	W	Unclassified	A metastatic melanoma sample
Q8WZ42	TITIN_HUMAN	16629	I	M	Polymorphism	-
Q8WZ42	TITIN_HUMAN	23306	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1137	G	R	Polymorphism	-
Q8WZ42	TITIN_HUMAN	33620	P	L	Polymorphism	-
Q8WZ42	TITIN_HUMAN	279	R	W	Disease	Myopathy, myofibrillar, 9, with early respiratory failure (MFM9) [MIM:603689]
Q8WZ42	TITIN_HUMAN	17866	D	N	Polymorphism	-
Q8WZ42	TITIN_HUMAN	1416	R	C	Polymorphism	-
Q8WZ42	TITIN_HUMAN	17060	N	D	Polymorphism	-
Q8WZ42	TITIN_HUMAN	32943	L	R	Unclassified	A gastric adenocarcinoma sample
Q8WZ42	TITIN_HUMAN	1664	R	Q	Unclassified	An ovarian mucinous carcinoma sample
Q8WZ42	TITIN_HUMAN	32953	R	H	Polymorphism	-
Q8WZ42	TITIN_HUMAN	33616	E	K	Polymorphism	-
Q8WZ42	TITIN_HUMAN	19060	L	Q	Unclassified	A lung large cell carcinoma sample
Q8WZ42	TITIN_HUMAN	32922	V	A	Polymorphism	-
Q8WZ42	TITIN_HUMAN	32248	V	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	4283	L	F	Polymorphism	-
Q8WZ42	TITIN_HUMAN	19392	E	K	Unclassified	A lung neuroendocrine carcinoma sample
Q8WZ42	TITIN_HUMAN	15629	S	I	Polymorphism	-
Q8WZ42	TITIN_HUMAN	18109	G	S	Polymorphism	-
Q8WZ42	TITIN_HUMAN	18222	A	T	Polymorphism	-
Q8WZ42	TITIN_HUMAN	16877	K	R	Polymorphism	-
Q8WZ42	TITIN_HUMAN	32097	R	C	Polymorphism	-
Q8WZ55	BSND_HUMAN	43	V	I	Polymorphism	-
Q8WZ55	BSND_HUMAN	8	R	W	Disease	Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522]
Q8WZ55	BSND_HUMAN	47	G	R	Disease	Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522]
Q8WZ55	BSND_HUMAN	8	R	L	Disease	Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522]
Q8WZ55	BSND_HUMAN	10	G	S	Disease	Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522]
Q8WZ60	KLHL6_HUMAN	518	I	V	Polymorphism	-
Q8WZ64	ARAP2_HUMAN	384	K	N	Polymorphism	-
Q8WZ64	ARAP2_HUMAN	1006	F	L	Polymorphism	-
Q8WZ64	ARAP2_HUMAN	1523	R	Q	Polymorphism	-
Q8WZ69	CK040_HUMAN	100	F	S	Polymorphism	-
Q8WZ74	CTTB2_HUMAN	1148	Q	K	Polymorphism	-
Q8WZ74	CTTB2_HUMAN	1213	L	V	Polymorphism	-
Q8WZ75	ROBO4_HUMAN	54	Q	R	Polymorphism	-
Q8WZ75	ROBO4_HUMAN	669	R	Q	Polymorphism	-
Q8WZ79	DNS2B_HUMAN	51	R	K	Polymorphism	-
Q8WZ79	DNS2B_HUMAN	3	Q	H	Polymorphism	-
Q8WZ79	DNS2B_HUMAN	47	K	R	Polymorphism	-
Q8WZ84	OR8D1_HUMAN	102	F	V	Polymorphism	-
Q8WZ84	OR8D1_HUMAN	127	C	W	Polymorphism	-
Q8WZ84	OR8D1_HUMAN	194	L	P	Polymorphism	-
Q8WZ92	OR5P2_HUMAN	7	G	R	Polymorphism	-
Q8WZ92	OR5P2_HUMAN	318	N	D	Polymorphism	-
Q8WZ94	OR5P3_HUMAN	158	T	K	Polymorphism	-
Q8WZ94	OR5P3_HUMAN	251	F	L	Polymorphism	-
Q8WZA0	LZIC_HUMAN	104	G	D	Polymorphism	-
Q8WZA1	PMGT1_HUMAN	120	L	R	Disease	Retinitis pigmentosa 76 (RP76) [MIM:617123]
Q8WZA1	PMGT1_HUMAN	156	E	K	Disease	Retinitis pigmentosa 76 (RP76) [MIM:617123]
Q8WZA1	PMGT1_HUMAN	502	G	A	Disease	Retinitis pigmentosa 76 (RP76) [MIM:617123]
Q8WZA1	PMGT1_HUMAN	556	D	N	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3) [MIM:613157]
Q8WZA1	PMGT1_HUMAN	493	P	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	198	S	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	442	R	C	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	504	V	I	Polymorphism	-
Q8WZA1	PMGT1_HUMAN	269	C	Y	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	311	R	Q	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	425	W	S	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	287	I	S	Disease	Retinitis pigmentosa 76 (RP76) [MIM:617123]
Q8WZA1	PMGT1_HUMAN	490	C	Y	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	265	R	H	Unclassified	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	311	R	Q	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3) [MIM:613151]
Q8WZA1	PMGT1_HUMAN	250	E	V	Polymorphism	-
Q8WZA1	PMGT1_HUMAN	490	C	Y	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3) [MIM:613151]
Q8WZA1	PMGT1_HUMAN	550	S	N	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	176	T	P	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	623	M	V	Polymorphism	-
Q8WZA1	PMGT1_HUMAN	427	D	H	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	367	R	H	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	223	E	K	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
Q8WZA1	PMGT1_HUMAN	605	R	P	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3) [MIM:613151]
Q92187	SIA8D_HUMAN	92	E	G	Unclassified	A colorectal cancer sample
Q92187	SIA8D_HUMAN	7	R	K	Polymorphism	-
Q92466	DDB2_HUMAN	215	M	T	Polymorphism	-
Q92466	DDB2_HUMAN	293	A	T	Polymorphism	-
Q92466	DDB2_HUMAN	244	K	E	Disease	Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]
Q92466	DDB2_HUMAN	273	R	H	Disease	Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]
Q92481	AP2B_HUMAN	236	R	S	Disease	Char syndrome (CHAR) [MIM:169100]
Q92481	AP2B_HUMAN	275	A	D	Disease	Char syndrome (CHAR) [MIM:169100]
Q92481	AP2B_HUMAN	300	R	C	Disease	Char syndrome (CHAR) [MIM:169100]
Q92481	AP2B_HUMAN	236	R	C	Disease	Char syndrome (CHAR) [MIM:169100]
Q92481	AP2B_HUMAN	285	R	Q	Disease	Char syndrome (CHAR) [MIM:169100]
Q92481	AP2B_HUMAN	73	P	R	Disease	Char syndrome (CHAR) [MIM:169100]
Q92482	AQP3_HUMAN	43	V	M	Polymorphism	-
Q92484	ASM3A_HUMAN	16	H	Y	Polymorphism	-
Q92484	ASM3A_HUMAN	161	P	S	Polymorphism	-
Q92485	ASM3B_HUMAN	381	R	H	Polymorphism	-
Q92496	FHR4_HUMAN	125	E	D	Polymorphism	-
Q92496	FHR4_HUMAN	553	G	E	Polymorphism	-
Q92496	FHR4_HUMAN	210	N	S	Polymorphism	-
Q92502	STAR8_HUMAN	188	G	S	Unclassified	A breast cancer sample
Q92502	STAR8_HUMAN	242	E	K	Unclassified	A breast cancer sample
Q92502	STAR8_HUMAN	327	R	Q	Polymorphism	-
Q92503	S14L1_HUMAN	97	A	G	Polymorphism	-
Q92503	S14L1_HUMAN	188	T	P	Polymorphism	-
Q92503	S14L1_HUMAN	98	Y	H	Polymorphism	-
Q92503	S14L1_HUMAN	37	V	M	Polymorphism	-
Q92504	S39A7_HUMAN	124	G	R	Polymorphism	-
Q92504	S39A7_HUMAN	280	E	G	Polymorphism	-
Q92504	S39A7_HUMAN	87	D	N	Polymorphism	-
Q92506	DHB8_HUMAN	190	H	R	Polymorphism	-
Q92506	DHB8_HUMAN	158	V	L	Unclassified	A breast cancer sample
Q92508	PIEZ1_HUMAN	2456	R	H	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	782	G	S	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	2127	T	M	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	1117	S	L	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	1358	R	P	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	718	G	S	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	2430	P	L	Unclassified	Lymphatic malformation 6 (LMPHM6) [MIM:616843]
Q92508	PIEZ1_HUMAN	808	R	Q	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	2003	A	D	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	2020	A	V	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	2225	M	R	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	2020	A	T	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	939	L	M	Unclassified	Lymphatic malformation 6 (LMPHM6) [MIM:616843]
Q92508	PIEZ1_HUMAN	2488	R	Q	Disease	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]
Q92508	PIEZ1_HUMAN	2458	F	L	Unclassified	Lymphatic malformation 6 (LMPHM6) [MIM:616843]
Q92508	PIEZ1_HUMAN	2456	R	C	Unclassified	Lymphatic malformation 6 (LMPHM6) [MIM:616843]
Q92519	TRIB2_HUMAN	4	H	R	Polymorphism	-
Q92521	PIGB_HUMAN	162	M	T	Polymorphism	-
Q92521	PIGB_HUMAN	551	K	T	Polymorphism	-
Q92521	PIGB_HUMAN	484	L	S	Polymorphism	-
Q92521	PIGB_HUMAN	68	I	L	Polymorphism	-
Q92521	PIGB_HUMAN	299	W	L	Polymorphism	-
Q92521	PIGB_HUMAN	502	S	G	Polymorphism	-
Q92523	CPT1B_HUMAN	66	I	V	Polymorphism	-
Q92523	CPT1B_HUMAN	427	S	C	Polymorphism	-
Q92523	CPT1B_HUMAN	531	E	K	Polymorphism	-
Q92523	CPT1B_HUMAN	664	S	Y	Polymorphism	-
Q92523	CPT1B_HUMAN	320	G	D	Polymorphism	-
Q92526	TCPW_HUMAN	247	G	A	Polymorphism	-
Q92526	TCPW_HUMAN	17	R	Q	Polymorphism	-
Q92526	TCPW_HUMAN	48	V	A	Polymorphism	-
Q92530	PSMF1_HUMAN	174	H	R	Polymorphism	-
Q92530	PSMF1_HUMAN	36	F	C	Polymorphism	-
Q92535	PIGC_HUMAN	266	P	S	Polymorphism	-
Q92535	PIGC_HUMAN	189	L	W	Disease	Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) [MIM:617816]
Q92535	PIGC_HUMAN	212	L	P	Disease	Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) [MIM:617816]
Q92538	GBF1_HUMAN	1693	G	S	Polymorphism	-
Q92539	LPIN2_HUMAN	734	S	L	Disease	Majeed syndrome (MJDS) [MIM:609628]
Q92540	SMG7_HUMAN	900	V	I	Polymorphism	-
Q92540	SMG7_HUMAN	627	S	F	Polymorphism	-
Q92542	NICA_HUMAN	77	E	D	Polymorphism	-
Q92542	NICA_HUMAN	75	V	I	Polymorphism	-
Q92542	NICA_HUMAN	211	P	R	Disease	Acne inversa, familial, 1 (ACNINV1) [MIM:142690]
Q92543	SNX19_HUMAN	618	L	F	Polymorphism	-
Q92543	SNX19_HUMAN	407	S	G	Polymorphism	-
Q92543	SNX19_HUMAN	753	N	S	Polymorphism	-
Q92543	SNX19_HUMAN	361	V	L	Polymorphism	-
Q92543	SNX19_HUMAN	878	L	R	Polymorphism	-
Q92543	SNX19_HUMAN	396	D	E	Polymorphism	-
Q92547	TOPB1_HUMAN	955	N	S	Polymorphism	-
Q92547	TOPB1_HUMAN	1042	N	S	Polymorphism	-
Q92547	TOPB1_HUMAN	817	S	L	Polymorphism	-
Q92552	RT27_HUMAN	284	G	D	Polymorphism	-
Q92556	ELMO1_HUMAN	362	I	S	Polymorphism	-
Q92560	BAP1_HUMAN	81	F	V	Unclassified	-
Q92560	BAP1_HUMAN	178	G	V	Unclassified	A lung cancer sample
Q92560	BAP1_HUMAN	63	S	C	Unclassified	-
Q92560	BAP1_HUMAN	685	E	V	Unclassified	-
Q92560	BAP1_HUMAN	315	E	A	Polymorphism	-
Q92560	BAP1_HUMAN	616	V	E	Polymorphism	-
Q92560	BAP1_HUMAN	91	C	W	Unclassified	-
Q92560	BAP1_HUMAN	95	A	D	Unclassified	A lung cancer sample
Q92560	BAP1_HUMAN	47	I	F	Unclassified	-
Q92561	PHYIP_HUMAN	21	R	S	Polymorphism	-
Q92562	FIG4_HUMAN	388	R	G	Polymorphism	-
Q92562	FIG4_HUMAN	302	E	K	Disease	Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]
Q92562	FIG4_HUMAN	411	I	V	Polymorphism	-
Q92562	FIG4_HUMAN	104	G	D	Disease	Yunis-Varon syndrome (YVS) [MIM:216340]
Q92562	FIG4_HUMAN	17	L	P	Disease	Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]
Q92562	FIG4_HUMAN	53	D	Y	Disease	Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577]
Q92562	FIG4_HUMAN	647	Y	C	Polymorphism	-
Q92562	FIG4_HUMAN	41	I	T	Disease	Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]
Q92562	FIG4_HUMAN	902	I	T	Polymorphism	-
Q92562	FIG4_HUMAN	175	L	P	Disease	Yunis-Varon syndrome (YVS) [MIM:216340]
Q92562	FIG4_HUMAN	654	V	A	Polymorphism	-
Q92562	FIG4_HUMAN	48	D	G	Polymorphism	-
Q92562	FIG4_HUMAN	783	D	V	Disease	Polymicrogyria, bilateral temporooccipital (BTOP) [MIM:612691]
Q92562	FIG4_HUMAN	364	M	L	Polymorphism	-
Q92563	TICN2_HUMAN	353	G	S	Polymorphism	-
Q92569	P55G_HUMAN	283	N	K	Polymorphism	-
Q92572	AP3S1_HUMAN	158	P	L	Polymorphism	-
Q92574	TSC1_HUMAN	180	L	P	Disease	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	1146	D	Y	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	305	G	W	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	362	P	S	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	126	V	I	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	500	R	Q	Disease	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	305	G	R	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	883	A	T	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	61	L	R	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	698	L	R	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	22	R	W	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
Q92574	TSC1_HUMAN	216	F	L	Unclassified	A bladder tumor
Q92574	TSC1_HUMAN	204	R	P	Polymorphism	-
Q92574	TSC1_HUMAN	411	L	I	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	1097	R	H	Polymorphism	-
Q92574	TSC1_HUMAN	654	Q	E	Disease	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	701	Q	H	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	133	V	I	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	1035	G	S	Polymorphism	-
Q92574	TSC1_HUMAN	322	M	T	Polymorphism	-
Q92574	TSC1_HUMAN	1108	G	S	Polymorphism	-
Q92574	TSC1_HUMAN	978	L	V	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	206	H	D	Unclassified	A bladder tumor
Q92574	TSC1_HUMAN	448	P	S	Polymorphism	-
Q92574	TSC1_HUMAN	191	L	H	Disease	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	762	N	S	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	509	R	Q	Polymorphism	-
Q92574	TSC1_HUMAN	224	M	R	Disease	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	132	G	D	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	72	L	P	Disease	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	246	R	K	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	68	H	R	Unclassified	A bladder tumor
Q92574	TSC1_HUMAN	809	E	Q	Polymorphism	-
Q92574	TSC1_HUMAN	158	F	C	Unclassified	A bladder tumor
Q92574	TSC1_HUMAN	829	S	R	Polymorphism	-
Q92574	TSC1_HUMAN	336	R	Q	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	158	F	S	Unclassified	-
Q92574	TSC1_HUMAN	523	A	P	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	577	E	D	Polymorphism	-
Q92574	TSC1_HUMAN	117	L	P	Disease	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	732	H	Y	Polymorphism	-
Q92574	TSC1_HUMAN	190	R	S	Polymorphism	-
Q92574	TSC1_HUMAN	417	T	I	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	587	K	R	Polymorphism	-
Q92574	TSC1_HUMAN	899	T	S	Disease	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	726	A	E	Disease	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	51	E	D	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	693	D	H	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	567	A	V	Polymorphism	-
Q92574	TSC1_HUMAN	811	R	G	Unclassified	Tuberous sclerosis 1 (TSC1) [MIM:191100]
Q92574	TSC1_HUMAN	204	R	C	Disease	Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
Q92575	UBXN4_HUMAN	458	S	R	Polymorphism	-
Q92576	PHF3_HUMAN	1834	H	Y	Polymorphism	-
Q92576	PHF3_HUMAN	525	V	I	Polymorphism	-
Q92583	CCL17_HUMAN	67	V	M	Polymorphism	-
Q92583	CCL17_HUMAN	5	K	N	Polymorphism	-
Q92585	MAML1_HUMAN	1007	S	N	Polymorphism	-
Q92585	MAML1_HUMAN	583	S	N	Polymorphism	-
Q92597	NDRG1_HUMAN	111	M	L	Polymorphism	-
Q92597	NDRG1_HUMAN	67	M	V	Polymorphism	-
Q92600	CNOT9_HUMAN	143	I	T	Polymorphism	-
Q92608	DOCK2_HUMAN	1779	T	S	Polymorphism	-
Q92608	DOCK2_HUMAN	1746	S	T	Polymorphism	-
Q92608	DOCK2_HUMAN	1104	R	W	Disease	Immunodeficiency 40 (IMD40) [MIM:616433]
Q92608	DOCK2_HUMAN	1558	D	A	Polymorphism	-
Q92608	DOCK2_HUMAN	751	R	S	Disease	Immunodeficiency 40 (IMD40) [MIM:616433]
Q92609	TBCD5_HUMAN	696	I	V	Polymorphism	-
Q92610	ZN592_HUMAN	1046	G	R	Unclassified	-
Q92610	ZN592_HUMAN	926	S	N	Polymorphism	-
Q92614	MY18A_HUMAN	958	A	V	Polymorphism	-
Q92616	GCN1_HUMAN	2155	Y	D	Polymorphism	-
Q92618	ZN516_HUMAN	4	N	S	Polymorphism	-
Q92618	ZN516_HUMAN	239	G	S	Polymorphism	-
Q92619	HMHA1_HUMAN	259	E	D	Polymorphism	-
Q92619	HMHA1_HUMAN	439	S	G	Polymorphism	-
Q92619	HMHA1_HUMAN	515	M	I	Polymorphism	-
Q92619	HMHA1_HUMAN	139	R	H	Polymorphism	-
Q92619	HMHA1_HUMAN	886	A	P	Polymorphism	-
Q92620	PRP16_HUMAN	1217	T	A	Polymorphism	-
Q92620	PRP16_HUMAN	324	R	Q	Disease	Retinitis pigmentosa 84 (RP84) [MIM:618220]
Q92620	PRP16_HUMAN	332	G	D	Unclassified	Retinitis pigmentosa 84 (RP84) [MIM:618220]
Q92621	NU205_HUMAN	1995	F	S	Disease	Nephrotic syndrome 13 (NPHS13) [MIM:616893]
Q92621	NU205_HUMAN	1356	E	Q	Polymorphism	-
Q92621	NU205_HUMAN	33	P	S	Polymorphism	-
Q92623	TTC9A_HUMAN	103	P	A	Polymorphism	-
Q92624	APBP2_HUMAN	561	S	N	Polymorphism	-
Q92625	ANS1A_HUMAN	355	A	D	Polymorphism	-
Q92625	ANS1A_HUMAN	694	L	S	Polymorphism	-
Q92626	PXDN_HUMAN	1198	R	Q	Polymorphism	-
Q92626	PXDN_HUMAN	880	R	C	Disease	Anterior segment dysgenesis 7 (ASGD7) [MIM:269400]
Q92626	PXDN_HUMAN	1261	Q	R	Polymorphism	-
Q92629	SGCD_HUMAN	96	R	Q	Polymorphism	-
Q92629	SGCD_HUMAN	261	E	K	Disease	Muscular dystrophy, limb-girdle, autosomal recessive 6 (LGMDR6) [MIM:601287]
Q92629	SGCD_HUMAN	150	S	A	Disease	Cardiomyopathy, dilated 1L (CMD1L) [MIM:606685]
Q92630	DYRK2_HUMAN	245	H	N	Polymorphism	-
Q92630	DYRK2_HUMAN	295	N	S	Polymorphism	-
Q92630	DYRK2_HUMAN	451	R	Q	Polymorphism	-
Q92630	DYRK2_HUMAN	98	S	G	Polymorphism	-
Q92630	DYRK2_HUMAN	198	P	L	Unclassified	A glioblastoma multiforme sample
Q92630	DYRK2_HUMAN	455	F	Y	Polymorphism	-
Q92633	LPAR1_HUMAN	77	N	S	Polymorphism	-
Q92636	FAN_HUMAN	626	Y	C	Polymorphism	-
Q92643	GPI8_HUMAN	16	T	A	Polymorphism	-
Q92664	TF3A_HUMAN	245	V	L	Polymorphism	-
Q92665	RT31_HUMAN	241	T	M	Polymorphism	-
Q92665	RT31_HUMAN	279	D	N	Polymorphism	-
Q92667	AKAP1_HUMAN	60	V	M	Polymorphism	-
Q92667	AKAP1_HUMAN	102	C	Y	Polymorphism	-
Q92667	AKAP1_HUMAN	18	A	V	Polymorphism	-
Q92667	AKAP1_HUMAN	124	R	C	Polymorphism	-
Q92673	SORL_HUMAN	1681	G	D	Unclassified	Alzheimer disease (AD) [MIM:104300]
Q92673	SORL_HUMAN	120	L	S	Unclassified	A breast cancer sample
Q92673	SORL_HUMAN	141	Y	C	Unclassified	Alzheimer disease (AD) [MIM:104300]
Q92673	SORL_HUMAN	924	N	S	Unclassified	Alzheimer disease (AD) [MIM:104300]
Q92673	SORL_HUMAN	1972	L	V	Unclassified	A colorectal cancer sample
Q92673	SORL_HUMAN	1967	V	I	Polymorphism	-
Q92673	SORL_HUMAN	528	A	T	Polymorphism	-
Q92673	SORL_HUMAN	1358	N	S	Unclassified	Alzheimer disease (AD) [MIM:104300]
Q92673	SORL_HUMAN	1581	M	L	Unclassified	A breast cancer sample
Q92673	SORL_HUMAN	1074	Q	E	Polymorphism	-
Q92673	SORL_HUMAN	511	G	R	Unclassified	Alzheimer disease (AD) [MIM:104300]
Q92681	RSCA1_HUMAN	191	C	W	Polymorphism	-
Q92681	RSCA1_HUMAN	62	F	L	Polymorphism	-
Q92681	RSCA1_HUMAN	271	N	S	Polymorphism	-
Q92685	ALG3_HUMAN	171	R	Q	Disease	Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]
Q92685	ALG3_HUMAN	118	G	D	Disease	Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]
Q92685	ALG3_HUMAN	107	I	V	Polymorphism	-
Q92696	PGTA_HUMAN	420	T	A	Polymorphism	-
Q92698	RAD54_HUMAN	325	G	R	Unclassified	A breast cancer sample
Q92698	RAD54_HUMAN	380	R	Q	Polymorphism	-
Q92698	RAD54_HUMAN	534	R	C	Polymorphism	-
Q92698	RAD54_HUMAN	151	K	E	Polymorphism	-
Q92698	RAD54_HUMAN	21	D	G	Polymorphism	-
Q92698	RAD54_HUMAN	202	R	C	Polymorphism	-
Q92698	RAD54_HUMAN	63	P	H	Unclassified	A colon adenocarcinoma sample
Q92698	RAD54_HUMAN	583	I	T	Polymorphism	-
Q92698	RAD54_HUMAN	444	V	E	Unclassified	A non-Hodgkin lymphoma sample
Q92698	RAD54_HUMAN	74	I	M	Polymorphism	-
Q92729	PTPRU_HUMAN	940	N	S	Polymorphism	-
Q92729	PTPRU_HUMAN	471	R	L	Polymorphism	-
Q92729	PTPRU_HUMAN	60	T	N	Polymorphism	-
Q92729	PTPRU_HUMAN	830	H	Y	Unclassified	A colorectal cancer sample
Q92729	PTPRU_HUMAN	835	R	W	Unclassified	A colorectal cancer sample
Q92729	PTPRU_HUMAN	856	R	C	Unclassified	A colorectal cancer sample
Q92730	RND1_HUMAN	44	P	R	Polymorphism	-
Q92731	ESR2_HUMAN	314	K	R	Disease	Ovarian dysgenesis 8 (ODG8) [MIM:618187]
Q92731	ESR2_HUMAN	84	G	V	Unclassified	-
Q92731	ESR2_HUMAN	426	L	R	Unclassified	-
Q92733	PRCC_HUMAN	136	P	S	Polymorphism	-
Q92734	TFG_HUMAN	285	P	L	Disease	Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO) [MIM:604484]
Q92734	TFG_HUMAN	106	R	C	Disease	Spastic paraplegia 57, autosomal recessive (SPG57) [MIM:615658]
Q92734	TFG_HUMAN	149	A	S	Unclassified	A colorectal cancer sample
Q92734	TFG_HUMAN	364	T	P	Polymorphism	-
Q92734	TFG_HUMAN	211	A	V	Polymorphism	-
Q92734	TFG_HUMAN	106	R	H	Disease	Spastic paraplegia 57, autosomal recessive (SPG57) [MIM:615658]
Q92736	RYR2_HUMAN	420	R	W	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	419	I	F	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4607	A	P	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	507	V	I	Polymorphism	-
Q92736	RYR2_HUMAN	4499	F	C	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4158	T	P	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	176	R	Q	Disease	Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2) [MIM:600996]
Q92736	RYR2_HUMAN	2504	T	M	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4146	E	K	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	3946	G	S	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4104	N	K	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4097	N	S	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4848	I	V	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2311	E	D	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2392	Y	C	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	3778	L	F	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2504	T	M	Disease	Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2) [MIM:600996]
Q92736	RYR2_HUMAN	4950	E	K	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	29	H	D	Unclassified	-
Q92736	RYR2_HUMAN	4902	P	L	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	176	R	Q	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4497	R	C	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	164	P	S	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2387	A	P	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2958	Q	R	Polymorphism	-
Q92736	RYR2_HUMAN	4880	V	A	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2386	N	I	Disease	Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2) [MIM:600996]
Q92736	RYR2_HUMAN	4159	Q	P	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4653	V	F	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4504	M	I	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	414	R	L	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2306	V	I	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4867	I	M	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4556	A	T	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	466	P	A	Unclassified	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	3800	C	F	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2403	A	T	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4201	Q	R	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4771	V	I	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	1886	G	S	Polymorphism	-
Q92736	RYR2_HUMAN	4671	G	R	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2246	S	L	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4860	A	G	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4895	N	D	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	433	L	P	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2386	N	I	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2328	P	S	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4124	S	T	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4959	R	Q	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	2474	R	S	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	4510	A	T	Disease	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]
Q92736	RYR2_HUMAN	433	L	P	Disease	Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2) [MIM:600996]
Q92736	RYR2_HUMAN	4955	G	E	Disease	-
Q92743	HTRA1_HUMAN	297	V	M	Disease	Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142]
Q92743	HTRA1_HUMAN	121	S	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779]
Q92743	HTRA1_HUMAN	284	S	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779]
Q92743	HTRA1_HUMAN	173	A	P	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779]
Q92743	HTRA1_HUMAN	123	A	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779]
Q92743	HTRA1_HUMAN	252	A	T	Disease	Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142]
Q92743	HTRA1_HUMAN	20	A	V	Polymorphism	-
Q92743	HTRA1_HUMAN	286	F	V	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779]
Q92743	HTRA1_HUMAN	51	E	G	Polymorphism	-
Q92743	HTRA1_HUMAN	450	D	H	Unclassified	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779]
Q92743	HTRA1_HUMAN	285	P	Q	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779]
Q92743	HTRA1_HUMAN	166	R	L	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779]
Q92743	HTRA1_HUMAN	133	R	G	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779]
Q92743	HTRA1_HUMAN	284	S	G	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779]
Q92750	TAF4B_HUMAN	249	I	V	Polymorphism	-
Q92750	TAF4B_HUMAN	539	N	S	Polymorphism	-
Q92752	TENR_HUMAN	17	I	V	Polymorphism	-
Q92752	TENR_HUMAN	128	A	S	Polymorphism	-
Q92752	TENR_HUMAN	302	S	N	Polymorphism	-
Q92752	TENR_HUMAN	643	R	K	Polymorphism	-
Q92752	TENR_HUMAN	293	G	S	Polymorphism	-
Q92759	TF2H4_HUMAN	337	R	Q	Polymorphism	-
Q92764	KRT35_HUMAN	441	C	Y	Polymorphism	-
Q92764	KRT35_HUMAN	443	P	A	Polymorphism	-
Q92764	KRT35_HUMAN	36	S	P	Polymorphism	-
Q92765	SFRP3_HUMAN	200	R	W	Polymorphism	-
Q92765	SFRP3_HUMAN	324	R	G	Disease	Osteoarthritis 1 (OS1) [MIM:165720]
Q92766	RREB1_HUMAN	195	G	R	Polymorphism	-
Q92766	RREB1_HUMAN	1499	S	Y	Polymorphism	-
Q92766	RREB1_HUMAN	1384	G	R	Polymorphism	-
Q92766	RREB1_HUMAN	783	G	V	Polymorphism	-
Q92766	RREB1_HUMAN	1467	L	P	Polymorphism	-
Q92766	RREB1_HUMAN	1171	D	N	Polymorphism	-
Q92769	HDAC2_HUMAN	230	R	C	Polymorphism	-
Q92769	HDAC2_HUMAN	315	Y	H	Polymorphism	-
Q92772	CDKL2_HUMAN	98	L	I	Unclassified	An ovarian papillary serous adenocarcinoma sample
Q92772	CDKL2_HUMAN	77	Y	S	Polymorphism	-
Q92772	CDKL2_HUMAN	197	M	T	Polymorphism	-
Q92772	CDKL2_HUMAN	132	I	T	Polymorphism	-
Q92772	CDKL2_HUMAN	411	A	V	Polymorphism	-
Q92772	CDKL2_HUMAN	149	R	Q	Unclassified	An ovarian mucinous carcinoma sample
Q92777	SYN2_HUMAN	506	T	A	Polymorphism	-
Q92781	RDH5_HUMAN	238	G	W	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	35	G	S	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	105	L	I	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	281	Y	H	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	264	V	G	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	33	I	V	Polymorphism	-
Q92781	RDH5_HUMAN	73	S	F	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	177	V	G	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	253	M	R	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	179	K	R	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	128	D	N	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	132	V	M	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	21	R	Q	Polymorphism	-
Q92781	RDH5_HUMAN	107	G	R	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	294	A	P	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	164	V	F	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	175	Y	F	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	280	R	H	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	70	R	G	Polymorphism	-
Q92781	RDH5_HUMAN	157	R	W	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92781	RDH5_HUMAN	267	C	W	Disease	Fundus albipunctatus (FALBI) [MIM:136880]
Q92782	DPF1_HUMAN	20	W	S	Polymorphism	-
Q92783	STAM1_HUMAN	212	G	D	Unclassified	A colorectal cancer sample
Q92784	DPF3_HUMAN	177	R	H	Polymorphism	-
Q92785	REQU_HUMAN	369	W	R	Disease	Coffin-Siris syndrome 7 (CSS7) [MIM:618027]
Q92785	REQU_HUMAN	350	R	H	Disease	Coffin-Siris syndrome 7 (CSS7) [MIM:618027]
Q92785	REQU_HUMAN	276	C	F	Disease	Coffin-Siris syndrome 7 (CSS7) [MIM:618027]
Q92785	REQU_HUMAN	330	C	W	Disease	Coffin-Siris syndrome 7 (CSS7) [MIM:618027]
Q92785	REQU_HUMAN	346	D	G	Disease	Coffin-Siris syndrome 7 (CSS7) [MIM:618027]
Q92786	PROX1_HUMAN	584	H	R	Polymorphism	-
Q92791	SC65_HUMAN	186	Q	R	Polymorphism	-
Q92793	CBP_HUMAN	1507	L	P	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1867	R	W	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1782	A	V	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	532	P	T	Polymorphism	-
Q92793	CBP_HUMAN	1470	H	R	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	503	Q	H	Polymorphism	-
Q92793	CBP_HUMAN	1543	D	N	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1378	R	P	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1447	T	I	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1450	Y	H	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1872	M	V	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1415	Q	P	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1664	R	H	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1724	E	K	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1406	D	Y	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	789	A	T	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1868	R	W	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1786	R	P	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	650	Y	F	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1747	L	R	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1503	Y	F	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1414	V	I	Polymorphism	-
Q92793	CBP_HUMAN	1867	R	Q	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1175	Y	C	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1826	C	W	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1475	P	T	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1278	E	K	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	546	I	N	Polymorphism	-
Q92793	CBP_HUMAN	1278	E	A	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793	CBP_HUMAN	1870	A	P	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1838	C	Y	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1829	H	D	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1819	C	F	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1719	H	D	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1710	C	R	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	1868	R	Q	Disease	Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]
Q92793	CBP_HUMAN	910	T	A	Disease	Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92794	KAT6A_HUMAN	134	L	S	Polymorphism	-
Q92796	DLG3_HUMAN	40	G	R	Unclassified	A colorectal cancer sample
Q92802	N42L2_HUMAN	272	Y	H	Polymorphism	-
Q92805	GOGA1_HUMAN	425	T	M	Polymorphism	-
Q92805	GOGA1_HUMAN	220	N	S	Polymorphism	-
Q92805	GOGA1_HUMAN	317	L	V	Polymorphism	-
Q92806	KCNJ9_HUMAN	366	A	V	Polymorphism	-
Q92813	IOD2_HUMAN	81	A	D	Polymorphism	-
Q92813	IOD2_HUMAN	92	T	A	Polymorphism	-
Q92817	EVPL_HUMAN	168	Y	C	Polymorphism	-
Q92817	EVPL_HUMAN	1814	P	S	Polymorphism	-
Q92817	EVPL_HUMAN	49	N	S	Polymorphism	-
Q92817	EVPL_HUMAN	433	Q	R	Polymorphism	-
Q92820	GGH_HUMAN	31	A	T	Polymorphism	-
Q92820	GGH_HUMAN	6	C	R	Polymorphism	-
Q92820	GGH_HUMAN	151	T	I	Polymorphism	-
Q92823	NRCAM_HUMAN	545	P	A	Polymorphism	-
Q92823	NRCAM_HUMAN	1116	G	V	Unclassified	A breast cancer sample
Q92823	NRCAM_HUMAN	1093	H	P	Unclassified	A breast cancer sample
Q92826	HXB13_HUMAN	144	L	P	Unclassified	-
Q92826	HXB13_HUMAN	88	Y	D	Unclassified	-
Q92826	HXB13_HUMAN	229	R	G	Unclassified	-
Q92826	HXB13_HUMAN	84	G	E	Disease	Prostate cancer (PC) [MIM:176807]
Q92826	HXB13_HUMAN	217	R	C	Polymorphism	-
Q92826	HXB13_HUMAN	216	G	C	Unclassified	-
Q92826	HXB13_HUMAN	41	T	M	Polymorphism	-
Q92828	COR2A_HUMAN	296	R	H	Polymorphism	-
Q92828	COR2A_HUMAN	495	R	L	Polymorphism	-
Q92831	KAT2B_HUMAN	386	N	S	Polymorphism	-
Q92831	KAT2B_HUMAN	130	V	G	Unclassified	-
Q92832	NELL1_HUMAN	287	V	I	Polymorphism	-
Q92832	NELL1_HUMAN	553	C	F	Unclassified	A colorectal cancer sample
Q92832	NELL1_HUMAN	211	F	V	Polymorphism	-
Q92832	NELL1_HUMAN	82	R	Q	Polymorphism	-
Q92832	NELL1_HUMAN	354	R	W	Polymorphism	-
Q92834	RPGR_HUMAN	289	I	V	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	43	G	E	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	98	H	Q	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	130	F	C	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	566	G	E	Polymorphism	-
Q92834	RPGR_HUMAN	76	S	I	Polymorphism	-
Q92834	RPGR_HUMAN	436	G	D	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	425	R	K	Polymorphism	-
Q92834	RPGR_HUMAN	173	G	R	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	43	G	R	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	60	G	V	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	302	C	R	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	431	I	V	Polymorphism	-
Q92834	RPGR_HUMAN	275	G	S	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	267	G	E	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	99	T	N	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	75	I	V	Unclassified	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	302	C	Y	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	312	D	Y	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	267	G	R	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	127	R	G	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	345	N	D	Polymorphism	-
Q92834	RPGR_HUMAN	262	A	G	Unclassified	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	250	C	R	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	312	D	N	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	215	G	V	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	184	Q	H	Polymorphism	-
Q92834	RPGR_HUMAN	152	S	L	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	250	C	Y	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	235	P	S	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	320	G	R	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92834	RPGR_HUMAN	533	T	M	Polymorphism	-
Q92834	RPGR_HUMAN	173	G	R	Disease	Retinitis pigmentosa and sinorespiratory infections with or without deafness (RPDSI) [MIM:300455]
Q92834	RPGR_HUMAN	285	E	G	Disease	Retinitis pigmentosa 3 (RP3) [MIM:300029]
Q92835	SHIP1_HUMAN	685	V	E	Unclassified	-
Q92835	SHIP1_HUMAN	1169	H	Y	Polymorphism	-
Q92838	EDA_HUMAN	302	F	S	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	218	G	D	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	356	A	D	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	304	Y	H	Unclassified	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	379	F	V	Disease	Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
Q92838	EDA_HUMAN	118	P	L	Unclassified	A colorectal cancer sample
Q92838	EDA_HUMAN	156	R	H	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	132	Q	P	Unclassified	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	378	T	M	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	189	G	E	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	269	G	V	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	332	C	Y	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	334	R	H	Disease	Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
Q92838	EDA_HUMAN	259	A	E	Disease	Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
Q92838	EDA_HUMAN	289	R	L	Disease	Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
Q92838	EDA_HUMAN	289	R	C	Disease	Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
Q92838	EDA_HUMAN	65	R	G	Disease	Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
Q92838	EDA_HUMAN	299	G	S	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	156	R	C	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	349	A	T	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	252	H	L	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	60	C	R	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	332	C	F	Unclassified	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	153	R	H	Unclassified	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	209	P	L	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	373	M	I	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	63	E	K	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	357	R	P	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	224	G	A	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	338	T	M	Disease	Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
Q92838	EDA_HUMAN	69	R	L	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	358	Q	H	Unclassified	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	252	H	Y	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	291	G	R	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	372	N	D	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	198	G	A	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	51	L	Q	Unclassified	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	260	I	S	Disease	Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
Q92838	EDA_HUMAN	298	D	Y	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	316	D	E	Unclassified	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	155	R	C	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	221	G	D	Unclassified	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	255	G	D	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	211	T	R	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	381	G	V	Unclassified	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	306	Q	H	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	153	R	C	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	266	L	R	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	358	Q	E	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	274	W	G	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	350	G	D	Unclassified	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	207	G	V	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	378	T	P	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	61	Y	H	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	319	S	R	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	323	V	G	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	354	L	P	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	360	I	N	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	54	H	Y	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	156	R	S	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	381	G	R	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	346	C	Y	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	207	G	R	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	55	L	R	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	296	L	V	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	299	G	D	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	374	S	R	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	293	L	P	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	356	A	V	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	156	R	G	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	291	G	W	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	125	S	C	Unclassified	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	343	Y	C	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	158	K	N	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	274	W	R	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	338	T	M	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	320	Y	C	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	298	D	H	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	307	V	G	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92838	EDA_HUMAN	255	G	C	Disease	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]
Q92839	HYAS1_HUMAN	14	C	R	Polymorphism	-
Q92843	B2CL2_HUMAN	133	Q	R	Polymorphism	-
Q92844	TANK_HUMAN	394	R	Q	Polymorphism	-
Q92844	TANK_HUMAN	292	G	R	Polymorphism	-
Q92844	TANK_HUMAN	358	P	L	Polymorphism	-
Q92845	KIFA3_HUMAN	513	S	A	Polymorphism	-
Q92847	GHSR_HUMAN	204	A	E	Disease	Growth hormone deficiency, isolated partial (GHDP) [MIM:615925]
Q92847	GHSR_HUMAN	237	R	W	Disease	Growth hormone deficiency, isolated partial (GHDP) [MIM:615925]
Q92847	GHSR_HUMAN	5	T	I	Polymorphism	-
Q92851	CASPA_HUMAN	147	M	T	Disease	Gastric cancer (GASC) [MIM:613659]
Q92851	CASPA_HUMAN	414	A	V	Disease	Familial non-Hodgkin lymphoma (NHL) [MIM:605027]
Q92851	CASPA_HUMAN	239	S	C	Polymorphism	-
Q92851	CASPA_HUMAN	14	K	T	Unclassified	-
Q92851	CASPA_HUMAN	444	P	S	Polymorphism	-
Q92851	CASPA_HUMAN	21	R	C	Polymorphism	-
Q92851	CASPA_HUMAN	285	L	F	Disease	Autoimmune lymphoproliferative syndrome 2A (ALPS2A) [MIM:603909]
Q92851	CASPA_HUMAN	410	V	I	Polymorphism	-
Q92851	CASPA_HUMAN	406	I	L	Polymorphism	-
Q92851	CASPA_HUMAN	285	L	P	Unclassified	-
Q92851	CASPA_HUMAN	446	Y	C	Polymorphism	-
Q92854	SEM4D_HUMAN	327	A	T	Polymorphism	-
Q92854	SEM4D_HUMAN	72	A	T	Polymorphism	-
Q92858	ATOH1_HUMAN	237	H	Q	Polymorphism	-
Q92859	NEO1_HUMAN	534	P	L	Polymorphism	-
Q92870	APBB2_HUMAN	179	R	Q	Polymorphism	-
Q92876	KLK6_HUMAN	78	R	W	Polymorphism	-
Q92878	RAD50_HUMAN	94	I	L	Polymorphism	-
Q92878	RAD50_HUMAN	191	T	I	Polymorphism	-
Q92878	RAD50_HUMAN	616	K	E	Polymorphism	-
Q92878	RAD50_HUMAN	964	Y	H	Polymorphism	-
Q92878	RAD50_HUMAN	193	R	W	Polymorphism	-
Q92878	RAD50_HUMAN	1038	R	G	Polymorphism	-
Q92878	RAD50_HUMAN	973	K	M	Polymorphism	-
Q92878	RAD50_HUMAN	842	V	A	Polymorphism	-
Q92878	RAD50_HUMAN	127	V	I	Polymorphism	-
Q92878	RAD50_HUMAN	315	V	L	Polymorphism	-
Q92878	RAD50_HUMAN	697	V	A	Polymorphism	-
Q92878	RAD50_HUMAN	469	G	A	Polymorphism	-
Q92878	RAD50_HUMAN	224	R	H	Polymorphism	-
Q92882	OSTF1_HUMAN	48	N	S	Polymorphism	-
Q92882	OSTF1_HUMAN	159	L	F	Polymorphism	-
Q92887	MRP2_HUMAN	1063	N	S	Polymorphism	-
Q92887	MRP2_HUMAN	1188	V	E	Polymorphism	-
Q92887	MRP2_HUMAN	353	R	H	Polymorphism	-
Q92887	MRP2_HUMAN	562	F	L	Polymorphism	-
Q92887	MRP2_HUMAN	486	T	I	Polymorphism	-
Q92887	MRP2_HUMAN	982	I	V	Polymorphism	-
Q92887	MRP2_HUMAN	849	L	R	Polymorphism	-
Q92887	MRP2_HUMAN	670	I	T	Polymorphism	-
Q92887	MRP2_HUMAN	1174	R	H	Polymorphism	-
Q92887	MRP2_HUMAN	1450	A	T	Polymorphism	-
Q92887	MRP2_HUMAN	1173	I	F	Disease	Dubin-Johnson syndrome (DJS) [MIM:237500]
Q92887	MRP2_HUMAN	417	V	I	Polymorphism	-
Q92887	MRP2_HUMAN	333	D	G	Polymorphism	-
Q92887	MRP2_HUMAN	1273	T	A	Polymorphism	-
Q92887	MRP2_HUMAN	789	S	F	Polymorphism	-
Q92887	MRP2_HUMAN	495	K	E	Polymorphism	-
Q92887	MRP2_HUMAN	921	G	S	Polymorphism	-
Q92887	MRP2_HUMAN	246	M	L	Polymorphism	-
Q92887	MRP2_HUMAN	39	Y	F	Polymorphism	-
Q92887	MRP2_HUMAN	281	S	N	Polymorphism	-
Q92887	MRP2_HUMAN	1150	R	H	Disease	Dubin-Johnson syndrome (DJS) [MIM:237500]
Q92887	MRP2_HUMAN	1515	C	Y	Polymorphism	-
Q92887	MRP2_HUMAN	768	R	W	Disease	Dubin-Johnson syndrome (DJS) [MIM:237500]
Q92887	MRP2_HUMAN	1382	Q	R	Disease	Dubin-Johnson syndrome (DJS) [MIM:237500]
Q92887	MRP2_HUMAN	1036	I	T	Polymorphism	-
Q92887	MRP2_HUMAN	1244	N	K	Polymorphism	-
Q92887	MRP2_HUMAN	1291	P	L	Polymorphism	-
Q92887	MRP2_HUMAN	1181	R	L	Polymorphism	-
Q92888	ARHG1_HUMAN	375	P	L	Polymorphism	-
Q92888	ARHG1_HUMAN	165	M	V	Unclassified	A colorectal cancer sample
Q92889	XPF_HUMAN	153	R	P	Disease	XFE progeroid syndrome (XFEPS) [MIM:610965]
Q92889	XPF_HUMAN	33	V	L	Polymorphism	-
Q92889	XPF_HUMAN	236	C	R	Disease	Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760]
Q92889	XPF_HUMAN	150	R	C	Polymorphism	-
Q92889	XPF_HUMAN	230	L	P	Disease	Fanconi anemia complementation group Q (FANCQ) [MIM:615272]
Q92889	XPF_HUMAN	706	I	T	Polymorphism	-
Q92889	XPF_HUMAN	513	G	R	Disease	Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
Q92889	XPF_HUMAN	567	T	A	Disease	Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
Q92889	XPF_HUMAN	267	R	H	Polymorphism	-
Q92889	XPF_HUMAN	912	G	E	Polymorphism	-
Q92889	XPF_HUMAN	589	R	W	Disease	Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760]
Q92889	XPF_HUMAN	415	R	Q	Polymorphism	-
Q92889	XPF_HUMAN	529	I	T	Disease	Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
Q92889	XPF_HUMAN	608	L	P	Disease	Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
Q92889	XPF_HUMAN	490	R	Q	Disease	Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
Q92889	XPF_HUMAN	717	I	T	Polymorphism	-
Q92889	XPF_HUMAN	379	P	S	Polymorphism	-
Q92889	XPF_HUMAN	799	R	W	Disease	Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
Q92889	XPF_HUMAN	873	I	V	Polymorphism	-
Q92889	XPF_HUMAN	576	R	T	Polymorphism	-
Q92889	XPF_HUMAN	860	A	D	Polymorphism	-
Q92889	XPF_HUMAN	662	S	P	Polymorphism	-
Q92889	XPF_HUMAN	502	E	K	Disease	Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
Q92889	XPF_HUMAN	689	R	S	Disease	Fanconi anemia complementation group Q (FANCQ) [MIM:615272]
Q92889	XPF_HUMAN	703	G	D	Polymorphism	-
Q92889	XPF_HUMAN	621	T	A	Polymorphism	-
Q92889	XPF_HUMAN	454	R	W	Disease	Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
Q92889	XPF_HUMAN	168	A	V	Polymorphism	-
Q92889	XPF_HUMAN	786	S	F	Disease	Fanconi anemia complementation group Q (FANCQ) [MIM:615272]
Q92889	XPF_HUMAN	768	S	F	Polymorphism	-
Q92889	XPF_HUMAN	875	E	G	Polymorphism	-
Q92889	XPF_HUMAN	225	I	M	Disease	Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
Q92890	UFD1_HUMAN	130	P	A	Polymorphism	-
Q92900	RENT1_HUMAN	69	A	S	Polymorphism	-
Q92901	RL3L_HUMAN	291	P	L	Polymorphism	-
Q92902	HPS1_HUMAN	480	A	T	Polymorphism	-
Q92902	HPS1_HUMAN	283	G	W	Polymorphism	-
Q92902	HPS1_HUMAN	186	A	V	Polymorphism	-
Q92902	HPS1_HUMAN	100	E	D	Polymorphism	-
Q92902	HPS1_HUMAN	630	V	I	Polymorphism	-
Q92902	HPS1_HUMAN	603	Q	R	Polymorphism	-
Q92902	HPS1_HUMAN	491	P	R	Polymorphism	-
Q92903	CDS1_HUMAN	99	L	F	Polymorphism	-
Q92903	CDS1_HUMAN	204	K	T	Unclassified	A breast cancer sample
Q92904	DAZL_HUMAN	12	T	A	Polymorphism	-
Q92904	DAZL_HUMAN	54	T	A	Polymorphism	-
Q92904	DAZL_HUMAN	115	R	G	Unclassified	-
Q92908	GATA6_HUMAN	466	N	H	Disease	Conotruncal heart malformations (CTHM) [MIM:217095]
Q92908	GATA6_HUMAN	198	L	V	Unclassified	Tetralogy of Fallot (TOF) [MIM:187500]
Q92908	GATA6_HUMAN	456	R	C	Disease	Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
Q92908	GATA6_HUMAN	235	Y	S	Disease	-
Q92908	GATA6_HUMAN	452	T	A	Disease	Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
Q92908	GATA6_HUMAN	178	A	V	Disease	Atrioventricular septal defect 5 (AVSD5) [MIM:614474]
Q92908	GATA6_HUMAN	543	A	G	Disease	-
Q92908	GATA6_HUMAN	184	S	N	Disease	Atrial septal defect 9 (ASD9) [MIM:614475]
Q92908	GATA6_HUMAN	467	A	T	Disease	Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
Q92908	GATA6_HUMAN	456	R	H	Disease	Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
Q92908	GATA6_HUMAN	184	S	N	Disease	Tetralogy of Fallot (TOF) [MIM:187500]
Q92908	GATA6_HUMAN	177	A	T	Disease	-
Q92908	GATA6_HUMAN	585	R	L	Disease	-
Q92908	GATA6_HUMAN	469	G	V	Disease	-
Q92908	GATA6_HUMAN	473	K	Q	Disease	Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
Q92908	GATA6_HUMAN	466	N	D	Disease	Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
Q92908	GATA6_HUMAN	15	G	R	Polymorphism	-
Q92908	GATA6_HUMAN	91	P	S	Disease	-
Q92911	SC5A5_HUMAN	267	Q	E	Disease	Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]
Q92911	SC5A5_HUMAN	395	G	R	Disease	Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]
Q92911	SC5A5_HUMAN	354	T	P	Disease	Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]
Q92911	SC5A5_HUMAN	298	C	G	Polymorphism	-
Q92911	SC5A5_HUMAN	93	G	R	Disease	Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]
Q92911	SC5A5_HUMAN	543	G	E	Disease	Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]
Q92911	SC5A5_HUMAN	536	T	Q	Unclassified	-
Q92911	SC5A5_HUMAN	102	A	P	Polymorphism	-
Q92911	SC5A5_HUMAN	556	S	Q	Unclassified	-
Q92913	FGF13_HUMAN	197	K	Q	Polymorphism	-
Q92914	FGF11_HUMAN	163	R	G	Polymorphism	-
Q92915	FGF14_HUMAN	145	F	S	Disease	Spinocerebellar ataxia 27 (SCA27) [MIM:609307]
Q92915	FGF14_HUMAN	42	G	C	Polymorphism	-
Q92918	M4K1_HUMAN	312	P	T	Polymorphism	-
Q92918	M4K1_HUMAN	351	P	S	Polymorphism	-
Q92918	M4K1_HUMAN	737	S	F	Unclassified	A metastatic melanoma sample
Q92918	M4K1_HUMAN	361	P	L	Polymorphism	-
Q92918	M4K1_HUMAN	811	N	S	Polymorphism	-
Q92922	SMRC1_HUMAN	1075	P	H	Polymorphism	-
Q92932	PTPR2_HUMAN	343	V	M	Polymorphism	-
Q92932	PTPR2_HUMAN	208	S	P	Polymorphism	-
Q92932	PTPR2_HUMAN	388	L	H	Polymorphism	-
Q92932	PTPR2_HUMAN	325	S	N	Polymorphism	-
Q92932	PTPR2_HUMAN	716	E	K	Unclassified	A colorectal cancer sample
Q92932	PTPR2_HUMAN	140	S	T	Polymorphism	-
Q92932	PTPR2_HUMAN	213	R	H	Polymorphism	-
Q92934	BAD_HUMAN	107	A	S	Polymorphism	-
Q92935	EXTL1_HUMAN	163	R	H	Polymorphism	-
Q92935	EXTL1_HUMAN	379	H	N	Polymorphism	-
Q92947	GCDH_HUMAN	392	N	D	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	355	R	H	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	101	G	R	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	268	G	V	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	309	L	W	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	354	G	R	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	138	R	G	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	293	A	T	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	263	M	V	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	283	L	P	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	365	E	K	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	257	R	Q	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	294	R	W	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	433	A	E	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	148	V	I	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	139	S	L	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	179	L	R	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	416	T	I	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	407	L	P	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	161	R	Q	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	64	E	D	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	115	C	Y	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	94	R	L	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	128	R	G	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	355	R	C	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	305	S	L	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	308	C	S	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	421	A	V	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	386	R	Q	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	236	F	L	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	266	M	V	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	122	A	V	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	390	G	A	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	429	T	M	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	295	Y	H	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	298	A	V	Polymorphism	-
Q92947	GCDH_HUMAN	178	G	R	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	390	G	R	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	349	A	T	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	195	A	T	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	257	R	W	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	298	A	T	Polymorphism	-
Q92947	GCDH_HUMAN	382	A	T	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	383	R	C	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	227	R	P	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	406	N	K	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	191	M	T	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	403	H	R	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	383	R	H	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	333	Q	E	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	354	G	S	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	375	C	R	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	400	V	M	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	88	R	C	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	313	R	W	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	402	R	W	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	278	P	S	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	402	R	Q	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	414	E	K	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92947	GCDH_HUMAN	421	A	T	Disease	Glutaric aciduria 1 (GA1) [MIM:231670]
Q92953	KCNB2_HUMAN	450	V	I	Unclassified	A colorectal cancer sample
Q92953	KCNB2_HUMAN	657	E	G	Polymorphism	-
Q92954	PRG4_HUMAN	1272	I	T	Polymorphism	-
Q92954	PRG4_HUMAN	1296	T	M	Polymorphism	-
Q92954	PRG4_HUMAN	180	R	W	Polymorphism	-
Q92954	PRG4_HUMAN	1130	N	S	Polymorphism	-
Q92956	TNR14_HUMAN	17	K	R	Polymorphism	-
Q92956	TNR14_HUMAN	241	V	I	Polymorphism	-
Q92956	TNR14_HUMAN	174	G	E	Polymorphism	-
Q92956	TNR14_HUMAN	117	A	T	Polymorphism	-
Q92959	SO2A1_HUMAN	97	R	H	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	85	I	F	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	396	A	T	Polymorphism	-
Q92959	SO2A1_HUMAN	565	W	G	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	222	G	R	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	255	G	R	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	420	C	F	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	556	Q	H	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	204	S	L	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	557	F	S	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	181	G	D	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	255	G	E	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	181	G	A	Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
Q92959	SO2A1_HUMAN	445	R	C	Polymorphism	-
Q92963	RIT1_HUMAN	82	F	L	Disease	Noonan syndrome 8 (NS8) [MIM:615355]
Q92963	RIT1_HUMAN	95	G	A	Disease	Noonan syndrome 8 (NS8) [MIM:615355]
Q92963	RIT1_HUMAN	57	A	G	Disease	Noonan syndrome 8 (NS8) [MIM:615355]
Q92963	RIT1_HUMAN	89	Y	H	Disease	-
Q92963	RIT1_HUMAN	83	T	P	Disease	-
Q92963	RIT1_HUMAN	82	F	V	Disease	-
Q92963	RIT1_HUMAN	35	S	T	Disease	-
Q92963	RIT1_HUMAN	81	E	G	Disease	Noonan syndrome 8 (NS8) [MIM:615355]
Q92963	RIT1_HUMAN	90	M	I	Disease	Noonan syndrome 8 (NS8) [MIM:615355]
Q92966	SNPC3_HUMAN	398	E	A	Polymorphism	-
Q92968	PEX13_HUMAN	326	I	T	Disease	Peroxisome biogenesis disorder 11B (PBD11B) [MIM:614885]
Q92979	NEP1_HUMAN	86	D	G	Disease	Bowen-Conradi syndrome (BWCNS) [MIM:211180]
Q92979	NEP1_HUMAN	34	A	G	Polymorphism	-
Q92982	NINJ1_HUMAN	110	A	D	Polymorphism	-
Q92985	IRF7_HUMAN	412	Q	R	Polymorphism	-
Q92985	IRF7_HUMAN	204	D	N	Polymorphism	-
Q92985	IRF7_HUMAN	179	K	E	Polymorphism	-
Q92985	IRF7_HUMAN	410	F	V	Disease	Immunodeficiency 39 (IMD39) [MIM:616345]
Q92989	CLP1_HUMAN	140	R	H	Disease	Pontocerebellar hypoplasia 10 (PCH10) [MIM:615803]
Q92990	GLMN_HUMAN	336	L	S	Polymorphism	-
Q92993	KAT5_HUMAN	78	P	T	Polymorphism	-
Q92994	TF3B_HUMAN	223	R	W	Disease	Cerebellofaciodental syndrome (CFDS) [MIM:616202]
Q92994	TF3B_HUMAN	259	T	M	Disease	Cerebellofaciodental syndrome (CFDS) [MIM:616202]
Q92994	TF3B_HUMAN	226	S	L	Disease	Cerebellofaciodental syndrome (CFDS) [MIM:616202]
Q92994	TF3B_HUMAN	542	V	M	Unclassified	A colorectal cancer sample
Q92994	TF3B_HUMAN	292	P	H	Disease	Cerebellofaciodental syndrome (CFDS) [MIM:616202]
Q92997	DVL3_HUMAN	433	W	L	Polymorphism	-
Q92997	DVL3_HUMAN	216	R	T	Unclassified	A breast cancer sample
Q93008	USP9X_HUMAN	2157	L	I	Unclassified	Mental retardation, X-linked 99 (MRX99) [MIM:300919]
Q93008	USP9X_HUMAN	2093	L	H	Disease	Mental retardation, X-linked 99 (MRX99) [MIM:300919]
Q93015	NAA80_HUMAN	207	T	S	Unclassified	Non-small cell lung cancer cell lines
Q93015	NAA80_HUMAN	145	R	S	Unclassified	Non-small cell lung cancer cell lines
Q93033	IGSF2_HUMAN	965	V	I	Polymorphism	-
Q93033	IGSF2_HUMAN	415	M	V	Polymorphism	-
Q93033	IGSF2_HUMAN	518	R	Q	Polymorphism	-
Q93033	IGSF2_HUMAN	225	N	S	Polymorphism	-
Q93033	IGSF2_HUMAN	157	G	S	Polymorphism	-
Q93033	IGSF2_HUMAN	992	R	W	Polymorphism	-
Q93033	IGSF2_HUMAN	988	R	C	Polymorphism	-
Q93033	IGSF2_HUMAN	525	S	R	Polymorphism	-
Q93033	IGSF2_HUMAN	631	T	S	Polymorphism	-
Q93033	IGSF2_HUMAN	933	R	Q	Polymorphism	-
Q93033	IGSF2_HUMAN	955	L	F	Polymorphism	-
Q93038	TNR25_HUMAN	23	R	Q	Polymorphism	-
Q93038	TNR25_HUMAN	370	R	L	Polymorphism	-
Q93038	TNR25_HUMAN	159	D	G	Polymorphism	-
Q93038	TNR25_HUMAN	254	P	R	Polymorphism	-
Q93038	TNR25_HUMAN	381	R	H	Polymorphism	-
Q93052	LPP_HUMAN	146	T	A	Polymorphism	-
Q93052	LPP_HUMAN	346	Y	H	Polymorphism	-
Q93052	LPP_HUMAN	259	S	P	Polymorphism	-
Q93063	EXT2_HUMAN	95	R	C	Disease	Seizures, scoliosis, and macrocephaly syndrome (SSMS) [MIM:616682]
Q93063	EXT2_HUMAN	223	R	P	Disease	Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063	EXT2_HUMAN	85	C	R	Disease	Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063	EXT2_HUMAN	380	I	T	Disease	Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063	EXT2_HUMAN	202	A	V	Disease	Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063	EXT2_HUMAN	576	E	K	Polymorphism	-
Q93063	EXT2_HUMAN	179	R	S	Disease	Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063	EXT2_HUMAN	227	D	N	Disease	Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063	EXT2_HUMAN	87	M	R	Disease	Seizures, scoliosis, and macrocephaly syndrome (SSMS) [MIM:616682]
Q93063	EXT2_HUMAN	42	M	V	Polymorphism	-
Q93063	EXT2_HUMAN	152	L	R	Disease	Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93070	NAR4_HUMAN	300	L	V	Polymorphism	-
Q93070	NAR4_HUMAN	265	N	D	Polymorphism	-
Q93070	NAR4_HUMAN	135	D	E	Polymorphism	-
Q93070	NAR4_HUMAN	117	T	I	Polymorphism	-
Q93070	NAR4_HUMAN	189	T	M	Polymorphism	-
Q93070	NAR4_HUMAN	108	G	V	Polymorphism	-
Q93074	MED12_HUMAN	1729	H	N	Disease	Ohdo syndrome, X-linked (OHDOX) [MIM:300895]
Q93074	MED12_HUMAN	1974	Q	H	Unclassified	-
Q93074	MED12_HUMAN	1148	R	H	Disease	Ohdo syndrome, X-linked (OHDOX) [MIM:300895]
Q93074	MED12_HUMAN	1165	S	P	Disease	Ohdo syndrome, X-linked (OHDOX) [MIM:300895]
Q93074	MED12_HUMAN	961	R	W	Disease	Opitz-Kaveggia syndrome (OKS) [MIM:305450]
Q93074	MED12_HUMAN	1007	N	S	Disease	Lujan-Fryns syndrome (LUJFRYS) [MIM:309520]
Q93074	MED12_HUMAN	1392	Q	R	Polymorphism	-
Q93075	TATD2_HUMAN	358	P	L	Polymorphism	-
Q93075	TATD2_HUMAN	217	H	R	Polymorphism	-
Q93075	TATD2_HUMAN	256	V	I	Polymorphism	-
Q93084	AT2A3_HUMAN	869	Q	H	Polymorphism	-
Q93084	AT2A3_HUMAN	674	R	H	Unclassified	A breast cancer sample
Q93088	BHMT1_HUMAN	199	G	S	Polymorphism	-
Q93088	BHMT1_HUMAN	239	R	Q	Polymorphism	-
Q93091	RNAS6_HUMAN	89	R	Q	Polymorphism	-
Q93098	WNT8B_HUMAN	53	E	Q	Unclassified	A colorectal cancer sample
Q93098	WNT8B_HUMAN	11	C	S	Polymorphism	-
Q93099	HGD_HUMAN	360	G	A	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	153	D	G	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	116	L	P	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	161	G	R	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	217	G	W	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	60	W	G	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	276	K	N	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	168	E	D	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	245	V	F	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	337	N	D	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	97	W	G	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	42	E	A	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	172	M	T	Polymorphism	-
Q93099	HGD_HUMAN	219	N	S	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	291	D	E	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	25	L	P	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	189	S	I	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	225	R	P	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	225	R	L	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	18	D	N	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	62	Y	C	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	360	G	R	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	359	P	L	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	329	F	C	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	61	L	P	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	3	E	A	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	115	G	R	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	123	G	R	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	183	Q	R	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	152	G	A	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	187	R	G	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	369	T	N	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	362	G	E	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	122	A	D	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	401	E	Q	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	230	P	T	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	171	K	N	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	120	C	W	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	97	W	R	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	120	C	F	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	123	G	A	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	374	D	H	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	321	R	P	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	92	P	T	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	373	P	L	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	371	H	R	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	197	R	G	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	230	P	S	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	168	E	K	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	122	A	V	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	270	G	R	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	300	V	G	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	137	L	P	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	73	F	L	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	80	Q	H	Polymorphism	-
Q93099	HGD_HUMAN	361	G	R	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	53	R	Q	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	178	E	G	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	258	Q	P	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	227	F	S	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	158	P	L	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	368	M	V	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	269	H	R	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	225	R	H	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	13	E	K	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	44	L	F	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	33	Q	R	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	216	I	T	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	330	R	S	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93099	HGD_HUMAN	169	F	L	Disease	Alkaptonuria (AKU) [MIM:203500]
Q93100	KPBB_HUMAN	657	Q	K	Polymorphism	-
Q93100	KPBB_HUMAN	770	Y	C	Polymorphism	-
Q93100	KPBB_HUMAN	820	E	V	Polymorphism	-
Q93100	KPBB_HUMAN	867	L	V	Unclassified	A breast cancer sample
Q93100	KPBB_HUMAN	118	A	P	Disease	Glycogen storage disease 9B (GSD9B) [MIM:261750]
Q93100	KPBB_HUMAN	877	G	R	Unclassified	A breast cancer sample
Q95365	1B38_HUMAN	82	E	G	Polymorphism	-
Q95365	1B38_HUMAN	87	N	K	Polymorphism	-
Q95365	1B38_HUMAN	9	V	L	Polymorphism	-
Q95365	1B38_HUMAN	65	A	T	Polymorphism	-
Q95365	1B38_HUMAN	48	S	P	Polymorphism	-
Q95365	1B38_HUMAN	98	Y	D	Polymorphism	-
Q95365	1B38_HUMAN	48	S	A	Polymorphism	-
Q95365	1B38_HUMAN	87	N	D	Polymorphism	-
Q95365	1B38_HUMAN	69	E	T	Polymorphism	-
Q95365	1B38_HUMAN	35	S	A	Polymorphism	-
Q95365	1B38_HUMAN	104	I	T	Polymorphism	-
Q95365	1B38_HUMAN	329	A	T	Polymorphism	-
Q95365	1B38_HUMAN	36	V	M	Polymorphism	-
Q95365	1B38_HUMAN	87	N	E	Polymorphism	-
Q95365	1B38_HUMAN	91	C	S	Polymorphism	-
Q95365	1B38_HUMAN	187	T	M	Polymorphism	-
Q95365	1B38_HUMAN	17	L	V	Polymorphism	-
Q95365	1B38_HUMAN	48	S	T	Polymorphism	-
Q95365	1B38_HUMAN	306	V	I	Polymorphism	-
Q95365	1B38_HUMAN	4	M	T	Polymorphism	-
Q95365	1B38_HUMAN	101	N	S	Polymorphism	-
Q95365	1B38_HUMAN	91	C	F	Polymorphism	-
Q95460	HMR1_HUMAN	39	H	R	Polymorphism	-
Q95460	HMR1_HUMAN	77	A	V	Polymorphism	-
Q95460	HMR1_HUMAN	63	R	Q	Polymorphism	-
Q95604	1C17_HUMAN	90	K	N	Polymorphism	-
Q95604	1C17_HUMAN	24	A	T	Polymorphism	-
Q95604	1C17_HUMAN	76	V	M	Polymorphism	-
Q95604	1C17_HUMAN	73	A	E	Polymorphism	-
Q95604	1C17_HUMAN	10	L	I	Polymorphism	-
Q95604	1C17_HUMAN	97	A	T	Polymorphism	-
Q95604	1C17_HUMAN	272	V	M	Polymorphism	-
Q95IE3	2B1C_HUMAN	76	F	L	Polymorphism	-
Q95IE3	2B1C_HUMAN	262	R	T	Polymorphism	-
Q95IE3	2B1C_HUMAN	54	R	L	Polymorphism	-
Q95IE3	2B1C_HUMAN	5	R	K	Polymorphism	-
Q95IE3	2B1C_HUMAN	87	A	E	Polymorphism	-
Q95IE3	2B1C_HUMAN	88	E	Q	Polymorphism	-
Q95IE3	2B1C_HUMAN	67	L	V	Polymorphism	-
Q95IE3	2B1C_HUMAN	86	V	D	Polymorphism	-
Q95IE3	2B1C_HUMAN	114	A	V	Polymorphism	-
Q95IE3	2B1C_HUMAN	178	H	Q	Polymorphism	-
Q95IE3	2B1C_HUMAN	13	A	T	Polymorphism	-
Q95IE3	2B1C_HUMAN	96	I	L	Polymorphism	-
Q95IE3	2B1C_HUMAN	169	T	A	Polymorphism	-
Q95IE3	2B1C_HUMAN	125	H	E	Polymorphism	-
Q95IE3	2B1C_HUMAN	89	S	Y	Polymorphism	-
Q95IE3	2B1C_HUMAN	96	I	F	Polymorphism	-
Q95IE3	2B1C_HUMAN	14	V	I	Polymorphism	-
Q95IE3	2B1C_HUMAN	115	V	G	Polymorphism	-
Q95IE3	2B1C_HUMAN	55	L	F	Polymorphism	-
Q95IE3	2B1C_HUMAN	98	E	G	Polymorphism	-
Q95IE3	2B1C_HUMAN	66	L	F	Polymorphism	-
Q95IE3	2B1C_HUMAN	14	V	A	Polymorphism	-
Q969E2	SCAM4_HUMAN	49	A	T	Polymorphism	-
Q969E3	UCN3_HUMAN	91	R	G	Polymorphism	-
Q969E3	UCN3_HUMAN	77	E	K	Polymorphism	-
Q969E4	TCAL3_HUMAN	87	Q	E	Polymorphism	-
Q969E8	TSR2_HUMAN	64	E	G	Disease	Diamond-Blackfan anemia 14, with mandibulofacial dysostosis (DBA14) [MIM:300946]
Q969F0	FATE1_HUMAN	10	A	V	Polymorphism	-
Q969F0	FATE1_HUMAN	34	I	T	Unclassified	-
Q969F0	FATE1_HUMAN	125	S	R	Polymorphism	-
Q969F2	NKD2_HUMAN	257	T	K	Polymorphism	-
Q969F8	KISSR_HUMAN	297	R	L	Disease	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
Q969F8	KISSR_HUMAN	223	C	R	Disease	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
Q969F8	KISSR_HUMAN	148	L	S	Disease	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
Q969F8	KISSR_HUMAN	364	L	H	Polymorphism	-
Q969F8	KISSR_HUMAN	262	S	L	Disease	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
Q969F8	KISSR_HUMAN	194	A	D	Disease	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
Q969F8	KISSR_HUMAN	386	R	P	Disease	Precocious puberty, central 1 (CPPB1) [MIM:176400]
Q969F8	KISSR_HUMAN	189	A	T	Disease	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
Q969F8	KISSR_HUMAN	102	L	P	Disease	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
Q969F9	HPS3_HUMAN	397	R	Q	Unclassified	A colorectal cancer sample
Q969F9	HPS3_HUMAN	275	E	K	Polymorphism	-
Q969F9	HPS3_HUMAN	397	R	W	Disease	Hermansky-Pudlak syndrome 3 (HPS3) [MIM:614072]
Q969G2	LHX4_HUMAN	328	N	S	Polymorphism	-
Q969G2	LHX4_HUMAN	190	L	R	Disease	Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
Q969G2	LHX4_HUMAN	84	R	C	Disease	Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
Q969G2	LHX4_HUMAN	210	A	P	Disease	Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
Q969G2	LHX4_HUMAN	389	P	T	Disease	Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
Q969G3	SMCE1_HUMAN	73	Y	S	Disease	Coffin-Siris syndrome 5 (CSS5) [MIM:616938]
Q969G3	SMCE1_HUMAN	73	Y	C	Disease	Coffin-Siris syndrome 5 (CSS5) [MIM:616938]
Q969G5	CAVN3_HUMAN	255	L	F	Polymorphism	-
Q969G5	CAVN3_HUMAN	158	L	P	Polymorphism	-
Q969G5	CAVN3_HUMAN	8	R	P	Polymorphism	-
Q969G5	CAVN3_HUMAN	104	A	T	Polymorphism	-
Q969H0	FBXW7_HUMAN	144	T	R	Polymorphism	-
Q969H0	FBXW7_HUMAN	117	E	K	Unclassified	A breast cancer sample
Q969H0	FBXW7_HUMAN	115	E	K	Polymorphism	-
Q969H0	FBXW7_HUMAN	505	R	L	Unclassified	An ovarian cancer cell line
Q969H0	FBXW7_HUMAN	668	S	G	Polymorphism	-
Q969H0	FBXW7_HUMAN	133	R	G	Polymorphism	-
Q969H0	FBXW7_HUMAN	465	R	C	Unclassified	An acute lymphoblastic leukemia cell line
Q969H0	FBXW7_HUMAN	465	R	H	Unclassified	A colorectal cancer sample
Q969H0	FBXW7_HUMAN	582	S	L	Unclassified	A colorectal cancer sample
Q969H4	CNKR1_HUMAN	662	R	W	Polymorphism	-
Q969H8	MYDGF_HUMAN	12	G	R	Polymorphism	-
Q969H9	DIRC1_HUMAN	92	L	S	Polymorphism	-
Q969H9	DIRC1_HUMAN	51	S	A	Polymorphism	-
Q969I6	S38A4_HUMAN	366	T	M	Polymorphism	-
Q969I6	S38A4_HUMAN	29	G	R	Polymorphism	-
Q969J2	ZKSC4_HUMAN	33	S	F	Polymorphism	-
Q969J3	BORC5_HUMAN	41	S	C	Polymorphism	-
Q969J3	BORC5_HUMAN	191	D	N	Polymorphism	-
Q969J5	I22R2_HUMAN	190	E	K	Polymorphism	-
Q969J5	I22R2_HUMAN	16	L	P	Polymorphism	-
Q969K7	TMM54_HUMAN	110	L	F	Polymorphism	-
Q969L2	MAL2_HUMAN	92	A	T	Polymorphism	-
Q969M1	TM40L_HUMAN	100	D	N	Unclassified	A colorectal cancer sample
Q969N2	PIGT_HUMAN	473	A	T	Polymorphism	-
Q969N2	PIGT_HUMAN	183	T	P	Disease	Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398]
Q969N4	TAAR8_HUMAN	153	S	N	Polymorphism	-
Q969N4	TAAR8_HUMAN	328	D	A	Polymorphism	-
Q969N4	TAAR8_HUMAN	211	V	D	Polymorphism	-
Q969P5	FBX32_HUMAN	89	G	A	Polymorphism	-
Q969P5	FBX32_HUMAN	56	N	S	Polymorphism	-
Q969P5	FBX32_HUMAN	243	G	R	Disease	-
Q969P6	TOP1M_HUMAN	525	R	W	Polymorphism	-
Q969P6	TOP1M_HUMAN	256	V	I	Polymorphism	-
Q969Q0	RL36L_HUMAN	66	I	V	Polymorphism	-
Q969Q1	TRI63_HUMAN	86	R	C	Unclassified	-
Q969Q1	TRI63_HUMAN	86	R	H	Unclassified	-
Q969Q1	TRI63_HUMAN	73	F	S	Unclassified	-
Q969Q1	TRI63_HUMAN	305	M	I	Polymorphism	-
Q969Q1	TRI63_HUMAN	318	A	D	Unclassified	-
Q969Q1	TRI63_HUMAN	5	S	L	Unclassified	-
Q969Q1	TRI63_HUMAN	237	K	E	Polymorphism	-
Q969Q1	TRI63_HUMAN	351	G	R	Polymorphism	-
Q969Q1	TRI63_HUMAN	126	E	D	Polymorphism	-
Q969Q1	TRI63_HUMAN	232	T	M	Unclassified	-
Q969Q1	TRI63_HUMAN	321	A	D	Polymorphism	-
Q969Q1	TRI63_HUMAN	254	D	N	Polymorphism	-
Q969Q1	TRI63_HUMAN	101	I	F	Unclassified	-
Q969Q1	TRI63_HUMAN	61	S	R	Polymorphism	-
Q969Q4	ARL11_HUMAN	148	C	R	Polymorphism	-
Q969Q4	ARL11_HUMAN	131	P	L	Polymorphism	-
Q969Q4	ARL11_HUMAN	120	L	M	Polymorphism	-
Q969Q4	ARL11_HUMAN	22	S	L	Polymorphism	-
Q969Q4	ARL11_HUMAN	164	E	K	Polymorphism	-
Q969R2	OSBP2_HUMAN	760	M	V	Polymorphism	-
Q969R5	LMBL2_HUMAN	7	I	V	Polymorphism	-
Q969R5	LMBL2_HUMAN	337	V	A	Polymorphism	-
Q969R5	LMBL2_HUMAN	300	R	W	Polymorphism	-
Q969S2	NEIL2_HUMAN	257	R	L	Polymorphism	-
Q969S2	NEIL2_HUMAN	70	T	S	Polymorphism	-
Q969S2	NEIL2_HUMAN	103	R	W	Polymorphism	-
Q969S2	NEIL2_HUMAN	103	R	Q	Polymorphism	-
Q969S2	NEIL2_HUMAN	304	P	T	Polymorphism	-
Q969S8	HDA10_HUMAN	429	V	I	Polymorphism	-
Q969S9	RRF2M_HUMAN	64	N	S	Polymorphism	-
Q969S9	RRF2M_HUMAN	300	S	C	Polymorphism	-
Q969S9	RRF2M_HUMAN	735	E	G	Polymorphism	-
Q969S9	RRF2M_HUMAN	774	R	Q	Polymorphism	-
Q969S9	RRF2M_HUMAN	425	P	H	Polymorphism	-
Q969S9	RRF2M_HUMAN	594	E	G	Polymorphism	-
Q969T3	SNX21_HUMAN	154	A	T	Polymorphism	-
Q969T4	UB2E3_HUMAN	201	W	R	Polymorphism	-
Q969T7	5NT3B_HUMAN	209	A	V	Polymorphism	-
Q969T7	5NT3B_HUMAN	213	S	C	Polymorphism	-
Q969T9	WBP2_HUMAN	163	M	L	Unclassified	Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639]
Q969T9	WBP2_HUMAN	224	A	V	Unclassified	Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639]
Q969T9	WBP2_HUMAN	160	A	T	Disease	Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639]
Q969U6	FBXW5_HUMAN	340	E	K	Polymorphism	-
Q969V1	MCHR2_HUMAN	63	R	K	Polymorphism	-
Q969V1	MCHR2_HUMAN	152	R	Q	Polymorphism	-
Q969V3	NCLN_HUMAN	214	E	D	Polymorphism	-
Q969V3	NCLN_HUMAN	551	K	R	Polymorphism	-
Q969V4	TEKT1_HUMAN	254	R	C	Polymorphism	-
Q969V4	TEKT1_HUMAN	146	I	V	Polymorphism	-
Q969V4	TEKT1_HUMAN	332	V	I	Polymorphism	-
Q969V6	MRTFA_HUMAN	648	S	G	Polymorphism	-
Q969W9	PMEPA_HUMAN	128	E	D	Polymorphism	-
Q969X1	LFG3_HUMAN	21	P	L	Polymorphism	-
Q969X5	ERGI1_HUMAN	98	V	E	Unclassified	Arthrogryposis multiplex congenita, neurogenic type (AMCN) [MIM:208100]
Q969X6	UTP4_HUMAN	565	R	W	Unclassified	-
Q969X6	UTP4_HUMAN	438	R	H	Polymorphism	-
Q969Y0	NXPE3_HUMAN	507	T	I	Polymorphism	-
Q969Y2	GTPB3_HUMAN	250	V	A	Polymorphism	-
Q969Y2	GTPB3_HUMAN	368	R	H	Polymorphism	-
Q969Y2	GTPB3_HUMAN	459	E	K	Disease	Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198]
Q969Y2	GTPB3_HUMAN	159	E	V	Disease	Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198]
Q969Y2	GTPB3_HUMAN	3	R	L	Unclassified	Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198]
Q969Y2	GTPB3_HUMAN	222	A	G	Disease	Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198]
Q969Y2	GTPB3_HUMAN	337	D	H	Disease	Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198]
Q969Y2	GTPB3_HUMAN	142	E	K	Disease	Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198]
Q969Y2	GTPB3_HUMAN	322	A	P	Polymorphism	-
Q969Y2	GTPB3_HUMAN	162	A	P	Disease	Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198]
Q969Y2	GTPB3_HUMAN	225	E	K	Polymorphism	-
Q969Y2	GTPB3_HUMAN	257	P	H	Disease	Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198]
Q969Z0	FAKD4_HUMAN	57	P	L	Polymorphism	-
Q969Z0	FAKD4_HUMAN	22	A	S	Polymorphism	-
Q969Z3	MARC2_HUMAN	244	G	S	Polymorphism	-
Q969Z3	MARC2_HUMAN	3	A	S	Polymorphism	-
Q969Z3	MARC2_HUMAN	245	C	W	Polymorphism	-
Q969Z4	TR19L_HUMAN	332	A	V	Polymorphism	-
Q96A04	TSACC_HUMAN	54	S	L	Polymorphism	-
Q96A11	G3ST3_HUMAN	410	E	A	Polymorphism	-
Q96A11	G3ST3_HUMAN	221	A	D	Polymorphism	-
Q96A22	CK052_HUMAN	23	T	R	Polymorphism	-
Q96A26	F162A_HUMAN	50	A	V	Polymorphism	-
Q96A28	SLAF9_HUMAN	86	V	M	Polymorphism	-
Q96A28	SLAF9_HUMAN	181	E	K	Polymorphism	-
Q96A28	SLAF9_HUMAN	164	D	H	Polymorphism	-
Q96A28	SLAF9_HUMAN	127	I	L	Polymorphism	-
Q96A29	FUCT1_HUMAN	49	W	S	Polymorphism	-
Q96A29	FUCT1_HUMAN	147	R	C	Disease	Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265]
Q96A29	FUCT1_HUMAN	308	T	R	Disease	Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265]
Q96A29	FUCT1_HUMAN	240	I	V	Polymorphism	-
Q96A56	T53I1_HUMAN	75	C	R	Polymorphism	-
Q96A57	TM230_HUMAN	108	R	C	Polymorphism	-
Q96A57	TM230_HUMAN	29	Y	C	Unclassified	Parkinson disease (PARK) [MIM:168600]
Q96A57	TM230_HUMAN	78	R	L	Unclassified	Parkinson disease (PARK) [MIM:168600]
Q96A59	MALD3_HUMAN	60	E	K	Polymorphism	-
Q96A65	EXOC4_HUMAN	220	S	F	Unclassified	A colorectal cancer sample
Q96A65	EXOC4_HUMAN	599	A	T	Unclassified	A colorectal cancer sample
Q96A70	AZIN2_HUMAN	288	A	S	Polymorphism	-
Q96A72	MGN2_HUMAN	119	E	K	Unclassified	A breast cancer sample
Q96A83	COQA1_HUMAN	427	P	L	Polymorphism	-
Q96A84	EMID1_HUMAN	107	A	G	Polymorphism	-
Q96A99	PTX4_HUMAN	444	I	V	Polymorphism	-
Q96A99	PTX4_HUMAN	220	R	G	Polymorphism	-
Q96A99	PTX4_HUMAN	2	G	E	Polymorphism	-
Q96A99	PTX4_HUMAN	92	R	W	Polymorphism	-
Q96A99	PTX4_HUMAN	281	R	K	Polymorphism	-
Q96A99	PTX4_HUMAN	234	R	Q	Polymorphism	-
Q96A99	PTX4_HUMAN	317	A	S	Polymorphism	-
Q96AA3	RFT1_HUMAN	67	R	C	Disease	Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015]
Q96AA3	RFT1_HUMAN	298	E	K	Disease	Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015]
Q96AA3	RFT1_HUMAN	185	A	T	Polymorphism	-
Q96AA3	RFT1_HUMAN	152	K	E	Disease	Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015]
Q96AA8	JKIP2_HUMAN	106	V	I	Polymorphism	-
Q96AA8	JKIP2_HUMAN	315	R	C	Unclassified	A colorectal cancer sample
Q96AB6	NTAN1_HUMAN	283	H	N	Polymorphism	-
Q96AB6	NTAN1_HUMAN	287	S	P	Polymorphism	-
Q96AC6	KIFC2_HUMAN	67	G	E	Polymorphism	-
Q96AC6	KIFC2_HUMAN	166	S	F	Polymorphism	-
Q96AD5	PLPL2_HUMAN	252	N	K	Polymorphism	-
Q96AD5	PLPL2_HUMAN	219	L	F	Polymorphism	-
Q96AD5	PLPL2_HUMAN	481	L	P	Polymorphism	-
Q96AD5	PLPL2_HUMAN	195	P	L	Disease	Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]
Q96AE4	FUBP1_HUMAN	399	I	K	Polymorphism	-
Q96AE7	TTC17_HUMAN	270	N	H	Polymorphism	-
Q96AE7	TTC17_HUMAN	145	I	L	Polymorphism	-
Q96AG3	S2546_HUMAN	333	P	L	Disease	Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505]
Q96AG3	S2546_HUMAN	340	R	C	Disease	Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505]
Q96AG3	S2546_HUMAN	335	E	D	Disease	Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505]
Q96AG3	S2546_HUMAN	249	G	D	Disease	Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505]
Q96AH0	SOSB2_HUMAN	154	T	S	Polymorphism	-
Q96AJ1	CLUA1_HUMAN	401	R	W	Polymorphism	-
Q96AJ1	CLUA1_HUMAN	68	A	S	Polymorphism	-
Q96AM1	MRGRF_HUMAN	16	K	R	Polymorphism	-
Q96AN5	TM143_HUMAN	143	D	N	Polymorphism	-
Q96AP0	ACD_HUMAN	518	V	A	Polymorphism	-
Q96AP0	ACD_HUMAN	491	P	T	Disease	Dyskeratosis congenita, autosomal recessive, 7 (DKCB7) [MIM:616553]
Q96AP0	ACD_HUMAN	301	T	M	Polymorphism	-
Q96AP4	ZUP1_HUMAN	379	N	D	Polymorphism	-
Q96AP7	ESAM_HUMAN	273	R	C	Polymorphism	-
Q96AQ1	CC74A_HUMAN	302	G	R	Polymorphism	-
Q96AQ2	TM125_HUMAN	112	A	D	Polymorphism	-
Q96AQ2	TM125_HUMAN	107	R	L	Unclassified	A breast cancer sample
Q96AQ6	PBIP1_HUMAN	356	G	D	Polymorphism	-
Q96AQ6	PBIP1_HUMAN	357	G	D	Polymorphism	-
Q96AQ8	MCUR1_HUMAN	108	S	G	Polymorphism	-
Q96AQ8	MCUR1_HUMAN	216	T	A	Polymorphism	-
Q96AQ9	F131C_HUMAN	226	E	D	Polymorphism	-
Q96AQ9	F131C_HUMAN	107	R	Q	Polymorphism	-
Q96AQ9	F131C_HUMAN	215	S	I	Polymorphism	-
Q96AQ9	F131C_HUMAN	123	P	R	Polymorphism	-
Q96AQ9	F131C_HUMAN	48	K	E	Polymorphism	-
Q96AT1	K1143_HUMAN	139	I	M	Polymorphism	-
Q96AV8	E2F7_HUMAN	626	M	V	Polymorphism	-
Q96AV8	E2F7_HUMAN	72	F	L	Polymorphism	-
Q96AV8	E2F7_HUMAN	854	H	Q	Polymorphism	-
Q96AX1	VP33A_HUMAN	498	R	W	Disease	Mucopolysaccharidosis-plus syndrome (MPSPS) [MIM:617303]
Q96AX1	VP33A_HUMAN	256	I	L	Polymorphism	-
Q96AX2	RAB37_HUMAN	188	A	P	Polymorphism	-
Q96AX9	MIB2_HUMAN	15	F	L	Polymorphism	-
Q96AX9	MIB2_HUMAN	45	M	T	Polymorphism	-
Q96AY2	EME1_HUMAN	347	V	I	Polymorphism	-
Q96AY2	EME1_HUMAN	63	F	L	Polymorphism	-
Q96AY2	EME1_HUMAN	350	I	T	Polymorphism	-
Q96AY2	EME1_HUMAN	69	E	D	Polymorphism	-
Q96AY2	EME1_HUMAN	5	K	N	Polymorphism	-
Q96AY2	EME1_HUMAN	49	I	V	Polymorphism	-
Q96AY3	FKB10_HUMAN	113	E	K	Disease	Bruck syndrome 1 (BRKS1) [MIM:259450]
Q96AY3	FKB10_HUMAN	115	R	Q	Disease	Bruck syndrome 1 (BRKS1) [MIM:259450]
Q96AY3	FKB10_HUMAN	136	P	L	Disease	Bruck syndrome 1 (BRKS1) [MIM:259450]
Q96AY3	FKB10_HUMAN	197	K	R	Polymorphism	-
Q96AZ1	EFMT3_HUMAN	28	S	L	Polymorphism	-
Q96B01	R51A1_HUMAN	68	K	Q	Polymorphism	-
Q96B21	TM45B_HUMAN	59	T	I	Polymorphism	-
Q96B26	EXOS8_HUMAN	2	A	V	Disease	Pontocerebellar hypoplasia 1C (PCH1C) [MIM:616081]
Q96B26	EXOS8_HUMAN	272	S	T	Disease	Pontocerebellar hypoplasia 1C (PCH1C) [MIM:616081]
Q96B33	CLD23_HUMAN	210	V	M	Polymorphism	-
Q96B36	AKTS1_HUMAN	47	A	P	Polymorphism	-
Q96B70	LENG9_HUMAN	153	H	R	Polymorphism	-
Q96B70	LENG9_HUMAN	499	R	P	Polymorphism	-
Q96B86	RGMA_HUMAN	431	A	V	Polymorphism	-
Q96B86	RGMA_HUMAN	415	D	E	Polymorphism	-
Q96B96	TM159_HUMAN	154	E	D	Polymorphism	-
Q96B96	TM159_HUMAN	97	F	L	Polymorphism	-
Q96B96	TM159_HUMAN	107	G	S	Polymorphism	-
Q96B97	SH3K1_HUMAN	382	P	L	Polymorphism	-
Q96BA8	CR3L1_HUMAN	411	A	T	Polymorphism	-
Q96BD0	SO4A1_HUMAN	78	V	I	Polymorphism	-
Q96BD0	SO4A1_HUMAN	70	R	Q	Polymorphism	-
Q96BD5	PF21A_HUMAN	347	R	H	Polymorphism	-
Q96BD8	SKA1_HUMAN	91	V	I	Polymorphism	-
Q96BF3	TMIG2_HUMAN	168	W	L	Polymorphism	-
Q96BF3	TMIG2_HUMAN	202	A	P	Polymorphism	-
Q96BH3	ESPB1_HUMAN	100	C	W	Polymorphism	-
Q96BH3	ESPB1_HUMAN	199	E	K	Polymorphism	-
Q96BH3	ESPB1_HUMAN	215	D	N	Polymorphism	-
Q96BH3	ESPB1_HUMAN	170	D	N	Polymorphism	-
Q96BI1	S22AI_HUMAN	324	W	C	Polymorphism	-
Q96BI1	S22AI_HUMAN	233	S	F	Disease	Lung cancer (LNCR) [MIM:211980]
Q96BI1	S22AI_HUMAN	309	R	Q	Polymorphism	-
Q96BI1	S22AI_HUMAN	86	R	C	Unclassified	A rhabdomyosarcoma sample
Q96BI1	S22AI_HUMAN	12	R	Q	Polymorphism	-
Q96BI1	S22AI_HUMAN	6	A	T	Polymorphism	-
Q96BJ8	ELMO3_HUMAN	316	R	C	Polymorphism	-
Q96BJ8	ELMO3_HUMAN	95	N	D	Polymorphism	-
Q96BJ8	ELMO3_HUMAN	13	K	Q	Polymorphism	-
Q96BK5	PINX1_HUMAN	315	E	A	Polymorphism	-
Q96BK5	PINX1_HUMAN	206	Q	H	Polymorphism	-
Q96BK5	PINX1_HUMAN	215	R	I	Polymorphism	-
Q96BK5	PINX1_HUMAN	254	S	C	Polymorphism	-
Q96BK5	PINX1_HUMAN	220	T	A	Polymorphism	-
Q96BM0	I27L1_HUMAN	35	G	S	Polymorphism	-
Q96BN2	TADA1_HUMAN	198	R	Q	Polymorphism	-
Q96BN6	F149B_HUMAN	571	G	R	Polymorphism	-
Q96BN8	OTUL_HUMAN	227	S	N	Polymorphism	-
Q96BN8	OTUL_HUMAN	155	M	L	Polymorphism	-
Q96BN8	OTUL_HUMAN	272	L	P	Disease	Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) [MIM:617099]
Q96BN8	OTUL_HUMAN	244	Y	C	Disease	Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) [MIM:617099]
Q96BN8	OTUL_HUMAN	311	N	S	Polymorphism	-
Q96BQ1	FAM3D_HUMAN	60	P	S	Polymorphism	-
Q96BQ1	FAM3D_HUMAN	118	A	S	Polymorphism	-
Q96BQ5	CC127_HUMAN	60	R	H	Polymorphism	-
Q96BR1	SGK3_HUMAN	92	A	V	Unclassified	A breast cancer sample
Q96BR1	SGK3_HUMAN	355	L	P	Polymorphism	-
Q96BR5	COA7_HUMAN	219	K	R	Polymorphism	-
Q96BR6	ZN669_HUMAN	76	E	D	Polymorphism	-
Q96BR6	ZN669_HUMAN	460	G	S	Polymorphism	-
Q96BR9	ZBT8A_HUMAN	418	G	A	Polymorphism	-
Q96BT3	CENPT_HUMAN	115	P	L	Polymorphism	-
Q96BV0	ZN775_HUMAN	428	T	A	Polymorphism	-
Q96BW5	PTER_HUMAN	97	E	G	Polymorphism	-
Q96BW9	TAM41_HUMAN	179	I	V	Polymorphism	-
Q96BW9	TAM41_HUMAN	116	N	S	Polymorphism	-
Q96BY7	ATG2B_HUMAN	1124	N	D	Polymorphism	-
Q96BY7	ATG2B_HUMAN	1567	I	T	Polymorphism	-
Q96BY7	ATG2B_HUMAN	1383	Q	E	Polymorphism	-
Q96BY9	SARAF_HUMAN	78	P	T	Polymorphism	-
Q96BZ4	PLD4_HUMAN	135	V	M	Polymorphism	-
Q96BZ4	PLD4_HUMAN	16	C	R	Polymorphism	-
Q96BZ4	PLD4_HUMAN	27	E	Q	Polymorphism	-
Q96BZ8	LENG1_HUMAN	97	E	K	Polymorphism	-
Q96BZ9	TBC20_HUMAN	79	N	S	Polymorphism	-
Q96C00	ZBTB9_HUMAN	274	A	G	Polymorphism	-
Q96C03	MID49_HUMAN	324	G	E	Polymorphism	-
Q96C03	MID49_HUMAN	354	R	Q	Polymorphism	-
Q96C10	DHX58_HUMAN	523	R	Q	Polymorphism	-
Q96C10	DHX58_HUMAN	76	T	A	Polymorphism	-
Q96C10	DHX58_HUMAN	95	R	Q	Polymorphism	-
Q96C10	DHX58_HUMAN	425	Q	R	Polymorphism	-
Q96C11	FGGY_HUMAN	43	N	K	Polymorphism	-
Q96C11	FGGY_HUMAN	246	L	V	Polymorphism	-
Q96C11	FGGY_HUMAN	134	L	V	Polymorphism	-
Q96C12	ARMC5_HUMAN	170	I	V	Polymorphism	-
Q96C12	ARMC5_HUMAN	115	S	P	Polymorphism	-
Q96C12	ARMC5_HUMAN	156	L	F	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	315	R	W	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	365	L	P	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	315	R	Q	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	14	F	Y	Polymorphism	-
Q96C12	ARMC5_HUMAN	798	G	A	Polymorphism	-
Q96C12	ARMC5_HUMAN	657	C	W	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	664	I	S	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	139	C	R	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	731	P	R	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	754	L	P	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	736	Y	S	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	331	L	P	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	56	G	A	Polymorphism	-
Q96C12	ARMC5_HUMAN	826	P	T	Unclassified	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	507	P	L	Polymorphism	-
Q96C12	ARMC5_HUMAN	643	T	M	Unclassified	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	362	R	L	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	483	P	L	Polymorphism	-
Q96C12	ARMC5_HUMAN	898	R	W	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	657	C	R	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	580	L	P	Unclassified	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	502	R	H	Polymorphism	-
Q96C12	ARMC5_HUMAN	323	G	A	Unclassified	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	548	L	P	Unclassified	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	362	R	W	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	593	R	W	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	318	L	V	Unclassified	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	808	H	P	Disease	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C12	ARMC5_HUMAN	394	L	P	Unclassified	ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
Q96C23	GALM_HUMAN	190	N	Y	Polymorphism	-
Q96C24	SYTL4_HUMAN	420	I	V	Polymorphism	-
Q96C28	ZN707_HUMAN	96	P	H	Polymorphism	-
Q96C34	RUND1_HUMAN	160	W	R	Polymorphism	-
Q96C34	RUND1_HUMAN	4	V	I	Polymorphism	-
Q96C34	RUND1_HUMAN	566	E	K	Polymorphism	-
Q96C34	RUND1_HUMAN	397	L	M	Polymorphism	-
Q96C36	P5CR2_HUMAN	251	R	C	Disease	Leukodystrophy, hypomyelinating, 10 (HLD10) [MIM:616420]
Q96C36	P5CR2_HUMAN	119	R	C	Disease	Leukodystrophy, hypomyelinating, 10 (HLD10) [MIM:616420]
Q96C45	ULK4_HUMAN	39	K	R	Polymorphism	-
Q96C45	ULK4_HUMAN	223	S	N	Polymorphism	-
Q96C45	ULK4_HUMAN	417	S	P	Polymorphism	-
Q96C45	ULK4_HUMAN	569	K	R	Polymorphism	-
Q96C45	ULK4_HUMAN	348	S	G	Polymorphism	-
Q96C45	ULK4_HUMAN	415	T	M	Polymorphism	-
Q96C45	ULK4_HUMAN	640	S	A	Polymorphism	-
Q96C45	ULK4_HUMAN	139	N	K	Polymorphism	-
Q96C45	ULK4_HUMAN	224	I	V	Polymorphism	-
Q96C45	ULK4_HUMAN	715	A	T	Polymorphism	-
Q96C45	ULK4_HUMAN	18	V	A	Polymorphism	-
Q96C45	ULK4_HUMAN	1261	A	V	Polymorphism	-
Q96C45	ULK4_HUMAN	1260	S	N	Polymorphism	-
Q96C45	ULK4_HUMAN	542	A	T	Polymorphism	-
Q96C45	ULK4_HUMAN	603	L	S	Polymorphism	-
Q96C57	CSTOS_HUMAN	44	G	R	Polymorphism	-
Q96C74	ROP1L_HUMAN	156	P	R	Polymorphism	-
Q96C74	ROP1L_HUMAN	103	N	K	Polymorphism	-
Q96C74	ROP1L_HUMAN	113	A	V	Polymorphism	-
Q96C86	DCPS_HUMAN	73	G	E	Polymorphism	-
Q96C86	DCPS_HUMAN	316	T	M	Disease	Al-Raqad syndrome (ARS) [MIM:616459]
Q96C92	ENTR1_HUMAN	304	R	Q	Polymorphism	-
Q96C92	ENTR1_HUMAN	176	E	G	Polymorphism	-
Q96C92	ENTR1_HUMAN	379	V	M	Polymorphism	-
Q96C92	ENTR1_HUMAN	428	V	I	Polymorphism	-
Q96C92	ENTR1_HUMAN	157	L	V	Polymorphism	-
Q96CA5	BIRC7_HUMAN	223	E	Q	Polymorphism	-
Q96CB5	CH044_HUMAN	148	F	S	Polymorphism	-
Q96CB5	CH044_HUMAN	131	Q	R	Polymorphism	-
Q96CB8	INT12_HUMAN	323	T	A	Polymorphism	-
Q96CB9	NSUN4_HUMAN	325	I	T	Polymorphism	-
Q96CB9	NSUN4_HUMAN	365	I	V	Polymorphism	-
Q96CB9	NSUN4_HUMAN	128	N	K	Polymorphism	-
Q96CB9	NSUN4_HUMAN	51	T	A	Polymorphism	-
Q96CC6	RHDF1_HUMAN	265	R	W	Polymorphism	-
Q96CD2	COAC_HUMAN	78	I	M	Polymorphism	-
Q96CF2	CHM4C_HUMAN	232	A	T	Polymorphism	-
Q96CG3	TIFA_HUMAN	19	T	M	Polymorphism	-
Q96CG8	CTHR1_HUMAN	44	Q	P	Polymorphism	-
Q96CK0	ZN653_HUMAN	54	K	R	Polymorphism	-
Q96CK0	ZN653_HUMAN	329	A	T	Polymorphism	-
Q96CM3	RUSD4_HUMAN	58	D	G	Polymorphism	-
Q96CM3	RUSD4_HUMAN	44	Q	R	Polymorphism	-
Q96CM3	RUSD4_HUMAN	209	A	V	Polymorphism	-
Q96CM3	RUSD4_HUMAN	155	E	D	Polymorphism	-
Q96CM8	ACSF2_HUMAN	75	G	V	Polymorphism	-
Q96CM8	ACSF2_HUMAN	316	V	M	Polymorphism	-
Q96CN9	GCC1_HUMAN	262	Q	R	Polymorphism	-
Q96CN9	GCC1_HUMAN	618	R	C	Polymorphism	-
Q96CN9	GCC1_HUMAN	86	R	W	Polymorphism	-
Q96CN9	GCC1_HUMAN	122	A	V	Polymorphism	-
Q96CN9	GCC1_HUMAN	87	C	W	Polymorphism	-
Q96CN9	GCC1_HUMAN	274	A	T	Polymorphism	-
Q96CT7	CC124_HUMAN	138	E	Q	Polymorphism	-
Q96CU9	FXRD1_HUMAN	352	R	W	Disease	Mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) [MIM:618241]
Q96CU9	FXRD1_HUMAN	343	A	P	Polymorphism	-
Q96CU9	FXRD1_HUMAN	145	V	I	Polymorphism	-
Q96CU9	FXRD1_HUMAN	430	N	S	Disease	Mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) [MIM:618241]
Q96CU9	FXRD1_HUMAN	380	H	R	Polymorphism	-
Q96CV9	OPTN_HUMAN	50	E	K	Disease	Glaucoma 1, open angle, E (GLC1E) [MIM:137760]
Q96CV9	OPTN_HUMAN	545	R	Q	Unclassified	Glaucoma 1, open angle, E (GLC1E) [MIM:137760]
Q96CV9	OPTN_HUMAN	357	T	P	Polymorphism	-
Q96CV9	OPTN_HUMAN	308	S	P	Polymorphism	-
Q96CV9	OPTN_HUMAN	322	E	K	Polymorphism	-
Q96CV9	OPTN_HUMAN	26	H	D	Disease	Glaucoma 1, open angle, E (GLC1E) [MIM:137760]
Q96CV9	OPTN_HUMAN	213	K	H	Unclassified	-
Q96CV9	OPTN_HUMAN	478	E	G	Disease	Amyotrophic lateral sclerosis 12 (ALS12) [MIM:613435]
Q96CV9	OPTN_HUMAN	486	H	R	Disease	Glaucoma 1, open angle, E (GLC1E) [MIM:137760]
Q96CV9	OPTN_HUMAN	295	V	F	Disease	Amyotrophic lateral sclerosis 12 (ALS12) [MIM:613435]
Q96CV9	OPTN_HUMAN	201	P	S	Polymorphism	-
Q96CV9	OPTN_HUMAN	216	S	R	Polymorphism	-
Q96CV9	OPTN_HUMAN	103	E	D	Disease	Glaucoma 1, open angle, E (GLC1E) [MIM:137760]
Q96CV9	OPTN_HUMAN	98	M	K	Polymorphism	-
Q96CW5	GCP3_HUMAN	208	T	S	Polymorphism	-
Q96CW6	S7A6O_HUMAN	24	V	M	Polymorphism	-
Q96CW6	S7A6O_HUMAN	116	S	A	Polymorphism	-
Q96CW6	S7A6O_HUMAN	220	Y	C	Polymorphism	-
Q96CW6	S7A6O_HUMAN	45	G	D	Polymorphism	-
Q96CW9	NTNG2_HUMAN	346	T	A	Polymorphism	-
Q96CX3	ZN501_HUMAN	147	I	V	Polymorphism	-
Q96CX3	ZN501_HUMAN	17	M	V	Polymorphism	-
Q96D03	DDT4L_HUMAN	161	S	F	Polymorphism	-
Q96D09	GASP2_HUMAN	173	R	S	Polymorphism	-
Q96D09	GASP2_HUMAN	573	A	N	Disease	Deafness, X-linked, 7 (DFNX7) [MIM:301018]
Q96D15	RCN3_HUMAN	250	R	W	Polymorphism	-
Q96D31	CRCM1_HUMAN	184	T	M	Disease	Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883]
Q96D31	CRCM1_HUMAN	91	R	W	Disease	Immunodeficiency 9 (IMD9) [MIM:612782]
Q96D31	CRCM1_HUMAN	218	S	G	Polymorphism	-
Q96D31	CRCM1_HUMAN	98	G	S	Disease	Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883]
Q96D31	CRCM1_HUMAN	107	V	M	Disease	Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883]
Q96D31	CRCM1_HUMAN	245	P	L	Disease	Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883]
Q96D42	HAVR1_HUMAN	51	S	L	Polymorphism	-
Q96D46	NMD3_HUMAN	6	E	K	Polymorphism	-
Q96D53	COQ8B_HUMAN	78	R	C	Polymorphism	-
Q96D53	COQ8B_HUMAN	498	A	E	Disease	Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D53	COQ8B_HUMAN	343	R	W	Disease	Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D53	COQ8B_HUMAN	310	P	L	Disease	Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D53	COQ8B_HUMAN	178	R	W	Disease	Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D53	COQ8B_HUMAN	352	T	R	Polymorphism	-
Q96D53	COQ8B_HUMAN	462	T	M	Polymorphism	-
Q96D53	COQ8B_HUMAN	98	L	R	Disease	Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D53	COQ8B_HUMAN	477	R	Q	Disease	Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D53	COQ8B_HUMAN	286	D	G	Disease	Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D53	COQ8B_HUMAN	174	H	R	Polymorphism	-
Q96D53	COQ8B_HUMAN	318	T	M	Polymorphism	-
Q96D53	COQ8B_HUMAN	320	R	W	Disease	Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D59	RN183_HUMAN	114	Q	R	Polymorphism	-
Q96D59	RN183_HUMAN	82	A	T	Polymorphism	-
Q96D71	REPS1_HUMAN	113	A	E	Disease	Neurodegeneration with brain iron accumulation 7 (NBIA7) [MIM:617916]
Q96D71	REPS1_HUMAN	78	V	L	Disease	Neurodegeneration with brain iron accumulation 7 (NBIA7) [MIM:617916]
Q96DA0	ZG16B_HUMAN	133	M	V	Polymorphism	-
Q96DA2	RB39B_HUMAN	192	G	R	Disease	Waisman syndrome (WSMN) [MIM:311510]
Q96DA2	RB39B_HUMAN	168	T	K	Disease	Waisman syndrome (WSMN) [MIM:311510]
Q96DB5	RMD1_HUMAN	52	K	N	Polymorphism	-
Q96DB9	FXYD5_HUMAN	35	S	A	Polymorphism	-
Q96DB9	FXYD5_HUMAN	176	R	H	Polymorphism	-
Q96DC7	TMCO6_HUMAN	299	T	S	Polymorphism	-
Q96DC8	ECHD3_HUMAN	151	A	T	Polymorphism	-
Q96DC8	ECHD3_HUMAN	162	D	N	Polymorphism	-
Q96DC8	ECHD3_HUMAN	69	A	T	Polymorphism	-
Q96DD0	LRC39_HUMAN	121	I	L	Polymorphism	-
Q96DD7	SHSA4_HUMAN	159	I	M	Polymorphism	-
Q96DF8	ESS2_HUMAN	31	A	V	Polymorphism	-
Q96DF8	ESS2_HUMAN	423	A	V	Polymorphism	-
Q96DF8	ESS2_HUMAN	336	V	M	Polymorphism	-
Q96DG6	CMBL_HUMAN	155	Y	C	Polymorphism	-
Q96DL1	NXPE2_HUMAN	103	V	A	Polymorphism	-
Q96DN0	ERP27_HUMAN	52	F	L	Polymorphism	-
Q96DN2	VWCE_HUMAN	842	P	R	Polymorphism	-
Q96DN5	TBC31_HUMAN	414	R	H	Polymorphism	-
Q96DN5	TBC31_HUMAN	709	V	F	Polymorphism	-
Q96DN5	TBC31_HUMAN	1065	A	T	Polymorphism	-
Q96DP5	FMT_HUMAN	125	S	L	Disease	Combined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947]
Q96DP5	FMT_HUMAN	209	S	L	Disease	Mitochondrial complex I deficiency, nuclear type 27 (MC1DN27) [MIM:618248]
Q96DP5	FMT_HUMAN	209	S	L	Disease	Combined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947]
Q96DP5	FMT_HUMAN	5	V	A	Polymorphism	-
Q96DR5	BPIA2_HUMAN	113	K	E	Polymorphism	-
Q96DR5	BPIA2_HUMAN	43	G	R	Polymorphism	-
Q96DR5	BPIA2_HUMAN	221	R	C	Polymorphism	-
Q96DR7	ARHGQ_HUMAN	60	L	P	Polymorphism	-
Q96DR7	ARHGQ_HUMAN	29	V	L	Polymorphism	-
Q96DR7	ARHGQ_HUMAN	203	F	S	Polymorphism	-
Q96DS6	M4A6E_HUMAN	47	V	F	Polymorphism	-
Q96DS6	M4A6E_HUMAN	6	I	V	Polymorphism	-
Q96DS6	M4A6E_HUMAN	10	T	A	Polymorphism	-
Q96DT5	DYH11_HUMAN	2383	L	P	Disease	Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884]
Q96DT5	DYH11_HUMAN	4170	T	I	Polymorphism	-
Q96DT5	DYH11_HUMAN	3708	V	L	Polymorphism	-
Q96DT5	DYH11_HUMAN	3758	S	P	Polymorphism	-
Q96DT5	DYH11_HUMAN	4165	M	V	Polymorphism	-
Q96DT5	DYH11_HUMAN	1038	T	A	Polymorphism	-
Q96DT5	DYH11_HUMAN	2675	I	V	Polymorphism	-
Q96DT5	DYH11_HUMAN	1023	V	A	Polymorphism	-
Q96DT5	DYH11_HUMAN	2634	N	S	Polymorphism	-
Q96DT5	DYH11_HUMAN	117	E	V	Disease	Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884]
Q96DT5	DYH11_HUMAN	639	Q	R	Polymorphism	-
Q96DT5	DYH11_HUMAN	2997	R	Q	Unclassified	Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884]
Q96DT5	DYH11_HUMAN	654	S	C	Polymorphism	-
Q96DT5	DYH11_HUMAN	1635	D	G	Polymorphism	-
Q96DT5	DYH11_HUMAN	34	E	L	Polymorphism	-
Q96DT5	DYH11_HUMAN	2586	Y	H	Polymorphism	-
Q96DT5	DYH11_HUMAN	1316	M	V	Polymorphism	-
Q96DT5	DYH11_HUMAN	34	E	V	Polymorphism	-
Q96DT5	DYH11_HUMAN	3467	A	T	Polymorphism	-
Q96DT5	DYH11_HUMAN	4327	L	S	Disease	Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884]
Q96DT7	ZBT10_HUMAN	174	M	I	Polymorphism	-
Q96DT7	ZBT10_HUMAN	50	P	T	Polymorphism	-
Q96DU9	PABP5_HUMAN	314	N	S	Polymorphism	-
Q96DV4	RM38_HUMAN	371	D	H	Polymorphism	-
Q96DV4	RM38_HUMAN	99	R	W	Polymorphism	-
Q96DW6	S2538_HUMAN	187	R	P	Disease	Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950]
Q96DW6	S2538_HUMAN	134	R	H	Disease	Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950]
Q96DW6	S2538_HUMAN	209	D	H	Disease	Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950]
Q96DW6	S2538_HUMAN	66	R	G	Polymorphism	-
Q96DW6	S2538_HUMAN	130	G	E	Disease	Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950]
Q96DX4	RSPRY_HUMAN	41	G	C	Disease	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA) [MIM:616723]
Q96DX7	TRI44_HUMAN	64	S	Y	Polymorphism	-
Q96DX7	TRI44_HUMAN	155	G	R	Disease	Aniridia 3 (AN3) [MIM:617142]
Q96DX8	RTP4_HUMAN	168	S	N	Polymorphism	-
Q96DX8	RTP4_HUMAN	79	T	I	Polymorphism	-
Q96DY2	DRC10_HUMAN	136	L	V	Polymorphism	-
Q96DZ1	ERLEC_HUMAN	318	V	L	Polymorphism	-
Q96DZ5	CLIP3_HUMAN	175	D	V	Polymorphism	-
Q96DZ7	T4S19_HUMAN	8	Q	P	Polymorphism	-
Q96DZ7	T4S19_HUMAN	162	V	I	Polymorphism	-
Q96E11	RRFM_HUMAN	216	M	V	Polymorphism	-
Q96E22	NGBR_HUMAN	219	T	K	Polymorphism	-
Q96E22	NGBR_HUMAN	175	N	Y	Polymorphism	-
Q96E22	NGBR_HUMAN	290	R	H	Disease	Congenital disorder of glycosylation 1AA (CDG1AA) [MIM:617082]
Q96E22	NGBR_HUMAN	179	D	E	Polymorphism	-
Q96E22	NGBR_HUMAN	216	K	R	Polymorphism	-
Q96E29	MTEF3_HUMAN	396	E	G	Polymorphism	-
Q96E40	SACA9_HUMAN	104	V	I	Polymorphism	-
Q96E52	OMA1_HUMAN	67	N	K	Polymorphism	-
Q96E52	OMA1_HUMAN	365	D	Y	Polymorphism	-
Q96E52	OMA1_HUMAN	329	I	L	Polymorphism	-
Q96E52	OMA1_HUMAN	226	L	V	Unclassified	A colorectal cancer sample
Q96E52	OMA1_HUMAN	272	E	G	Polymorphism	-
Q96E52	OMA1_HUMAN	117	P	L	Polymorphism	-
Q96E52	OMA1_HUMAN	69	H	Y	Polymorphism	-
Q96E52	OMA1_HUMAN	211	F	C	Polymorphism	-
Q96E93	KLRG1_HUMAN	58	W	R	Polymorphism	-
Q96EA4	SPDLY_HUMAN	508	Y	H	Polymorphism	-
Q96EA4	SPDLY_HUMAN	586	L	S	Polymorphism	-
Q96EB1	ELP4_HUMAN	300	I	L	Polymorphism	-
Q96EB6	SIR1_HUMAN	3	D	E	Polymorphism	-
Q96EB6	SIR1_HUMAN	484	V	D	Polymorphism	-
Q96EC8	YIPF6_HUMAN	202	F	L	Polymorphism	-
Q96ED9	HOOK2_HUMAN	488	H	Q	Polymorphism	-
Q96ED9	HOOK2_HUMAN	10	G	R	Polymorphism	-
Q96EE3	SEH1_HUMAN	342	T	N	Polymorphism	-
Q96EF0	MTMR8_HUMAN	454	E	K	Unclassified	A breast cancer sample
Q96EF0	MTMR8_HUMAN	127	W	R	Unclassified	A breast cancer sample
Q96EG1	ARSG_HUMAN	326	R	G	Polymorphism	-
Q96EG1	ARSG_HUMAN	236	T	S	Polymorphism	-
Q96EG1	ARSG_HUMAN	45	D	Y	Disease	Usher syndrome 4 (USH4) [MIM:618144]
Q96EG1	ARSG_HUMAN	481	E	K	Polymorphism	-
Q96EG1	ARSG_HUMAN	274	W	R	Polymorphism	-
Q96EG1	ARSG_HUMAN	11	A	V	Polymorphism	-
Q96EG1	ARSG_HUMAN	385	R	H	Polymorphism	-
Q96EG1	ARSG_HUMAN	493	I	T	Polymorphism	-
Q96EG1	ARSG_HUMAN	444	T	M	Polymorphism	-
Q96EG1	ARSG_HUMAN	398	R	W	Polymorphism	-
Q96EG3	ZN837_HUMAN	153	Q	R	Polymorphism	-
Q96EG3	ZN837_HUMAN	242	A	T	Polymorphism	-
Q96EK2	PF21B_HUMAN	127	G	S	Polymorphism	-
Q96EK5	KBP_HUMAN	66	G	S	Polymorphism	-
Q96EK7	F120B_HUMAN	431	S	P	Polymorphism	-
Q96EK7	F120B_HUMAN	430	D	G	Polymorphism	-
Q96EK7	F120B_HUMAN	428	Y	C	Polymorphism	-
Q96EK7	F120B_HUMAN	433	P	A	Polymorphism	-
Q96EK7	F120B_HUMAN	440	Y	C	Polymorphism	-
Q96EK7	F120B_HUMAN	370	D	Y	Polymorphism	-
Q96EK7	F120B_HUMAN	511	C	G	Polymorphism	-
Q96EK7	F120B_HUMAN	379	M	T	Polymorphism	-
Q96EK9	KTI12_HUMAN	191	D	E	Polymorphism	-
Q96EL2	RT24_HUMAN	97	W	R	Polymorphism	-
Q96EL3	RM53_HUMAN	4	A	S	Polymorphism	-
Q96EM0	T3HPD_HUMAN	341	I	V	Polymorphism	-
Q96EM0	T3HPD_HUMAN	315	A	V	Polymorphism	-
Q96EM0	T3HPD_HUMAN	125	P	S	Polymorphism	-
Q96EM0	T3HPD_HUMAN	42	V	A	Polymorphism	-
Q96EN8	MOCOS_HUMAN	703	H	N	Polymorphism	-
Q96EN8	MOCOS_HUMAN	495	D	N	Polymorphism	-
Q96EN8	MOCOS_HUMAN	57	A	P	Disease	Xanthinuria 2 (XAN2) [MIM:603592]
Q96EN8	MOCOS_HUMAN	776	R	C	Disease	Xanthinuria 2 (XAN2) [MIM:603592]
Q96EN8	MOCOS_HUMAN	184	S	G	Polymorphism	-
Q96EN8	MOCOS_HUMAN	120	S	N	Polymorphism	-
Q96EN8	MOCOS_HUMAN	541	V	L	Polymorphism	-
Q96EN8	MOCOS_HUMAN	358	V	M	Polymorphism	-
Q96EN8	MOCOS_HUMAN	225	H	R	Polymorphism	-
Q96EN8	MOCOS_HUMAN	294	T	I	Disease	Xanthinuria 2 (XAN2) [MIM:603592]
Q96EN8	MOCOS_HUMAN	170	T	I	Polymorphism	-
Q96EN8	MOCOS_HUMAN	867	V	A	Polymorphism	-
Q96EP0	RNF31_HUMAN	1061	V	I	Polymorphism	-
Q96EP1	CHFR_HUMAN	580	V	M	Polymorphism	-
Q96EP1	CHFR_HUMAN	536	F	S	Unclassified	A patient with non small cell lung carcinomas
Q96EP1	CHFR_HUMAN	270	G	R	Polymorphism	-
Q96EP1	CHFR_HUMAN	166	P	L	Unclassified	A patient with non small cell lung carcinomas
Q96EP1	CHFR_HUMAN	497	A	V	Polymorphism	-
Q96EP1	CHFR_HUMAN	202	R	P	Unclassified	A patient with non small cell lung carcinomas
Q96EP5	DAZP1_HUMAN	381	S	T	Unclassified	A breast cancer sample
Q96EQ8	RN125_HUMAN	163	S	L	Disease	Tenorio syndrome (TNORS) [MIM:616260]
Q96EQ8	RN125_HUMAN	174	R	C	Disease	Tenorio syndrome (TNORS) [MIM:616260]
Q96EQ8	RN125_HUMAN	112	M	I	Disease	Tenorio syndrome (TNORS) [MIM:616260]
Q96ER3	SAAL1_HUMAN	315	I	V	Polymorphism	-
Q96ER3	SAAL1_HUMAN	426	S	G	Polymorphism	-
Q96ER9	CCD51_HUMAN	360	F	S	Polymorphism	-
Q96ES6	MFSD3_HUMAN	292	G	R	Polymorphism	-
Q96ET8	TV23C_HUMAN	12	D	A	Polymorphism	-
Q96ET8	TV23C_HUMAN	271	L	Q	Polymorphism	-
Q96EU6	RRP36_HUMAN	78	A	G	Polymorphism	-
Q96EU7	C1GLC_HUMAN	143	A	V	Polymorphism	-
Q96EU7	C1GLC_HUMAN	193	S	P	Disease	Tn polyagglutination syndrome (TNPS) [MIM:300622]
Q96EU7	C1GLC_HUMAN	152	E	K	Disease	Tn polyagglutination syndrome (TNPS) [MIM:300622]
Q96EU7	C1GLC_HUMAN	222	Q	H	Polymorphism	-
Q96EU7	C1GLC_HUMAN	131	D	E	Polymorphism	-
Q96EV2	RBM33_HUMAN	574	T	A	Polymorphism	-
Q96EV8	DTBP1_HUMAN	214	G	D	Polymorphism	-
Q96EV8	DTBP1_HUMAN	272	P	S	Polymorphism	-
Q96EW2	HBAP1_HUMAN	64	S	A	Polymorphism	-
Q96EX3	WDR34_HUMAN	447	R	W	Disease	Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
Q96EX3	WDR34_HUMAN	410	S	I	Disease	Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
Q96EX3	WDR34_HUMAN	436	K	R	Disease	Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
Q96EX3	WDR34_HUMAN	341	A	V	Disease	Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
Q96EX3	WDR34_HUMAN	148	C	F	Disease	Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
Q96EX3	WDR34_HUMAN	447	R	Q	Disease	Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
Q96EX3	WDR34_HUMAN	354	T	M	Disease	Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
Q96EX3	WDR34_HUMAN	390	P	L	Disease	Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
Q96EX3	WDR34_HUMAN	206	R	C	Polymorphism	-
Q96EX3	WDR34_HUMAN	22	A	V	Polymorphism	-
Q96EX3	WDR34_HUMAN	393	G	S	Disease	Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
Q96EY1	DNJA3_HUMAN	75	N	Y	Polymorphism	-
Q96EY4	TMA16_HUMAN	12	R	Q	Polymorphism	-
Q96EY4	TMA16_HUMAN	176	I	T	Polymorphism	-
Q96EY4	TMA16_HUMAN	65	Q	P	Polymorphism	-
Q96EY5	MB12A_HUMAN	106	C	Y	Polymorphism	-
Q96EY7	PTCD3_HUMAN	681	S	G	Polymorphism	-
Q96EY7	PTCD3_HUMAN	2	A	V	Polymorphism	-
Q96EY8	MMAB_HUMAN	19	R	Q	Polymorphism	-
Q96EY8	MMAB_HUMAN	135	A	T	Disease	Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
Q96EY8	MMAB_HUMAN	96	I	T	Disease	Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
Q96EY8	MMAB_HUMAN	193	E	K	Disease	Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
Q96EY8	MMAB_HUMAN	186	R	W	Disease	Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
Q96EY8	MMAB_HUMAN	239	M	K	Polymorphism	-
Q96EY8	MMAB_HUMAN	191	R	W	Disease	Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
Q96EY8	MMAB_HUMAN	19	R	H	Polymorphism	-
Q96EY9	ADAT3_HUMAN	128	V	M	Disease	Mental retardation, autosomal recessive 36 (MRT36) [MIM:615286]
Q96EY9	ADAT3_HUMAN	332	R	C	Unclassified	A breast cancer sample
Q96EZ4	MYEOV_HUMAN	284	P	T	Polymorphism	-
Q96EZ4	MYEOV_HUMAN	198	R	Q	Polymorphism	-
Q96EZ4	MYEOV_HUMAN	159	V	A	Polymorphism	-
Q96EZ4	MYEOV_HUMAN	271	G	R	Polymorphism	-
Q96EZ8	MCRS1_HUMAN	441	V	I	Unclassified	A colorectal cancer sample
Q96F05	CK024_HUMAN	150	A	T	Polymorphism	-
Q96F05	CK024_HUMAN	97	G	V	Polymorphism	-
Q96F07	CYFP2_HUMAN	320	K	E	Polymorphism	-
Q96F07	CYFP2_HUMAN	87	R	L	Disease	Epileptic encephalopathy, early infantile, 65 (EIEE65) [MIM:618008]
Q96F07	CYFP2_HUMAN	87	R	P	Disease	Epileptic encephalopathy, early infantile, 65 (EIEE65) [MIM:618008]
Q96F07	CYFP2_HUMAN	87	R	C	Disease	Epileptic encephalopathy, early infantile, 65 (EIEE65) [MIM:618008]
Q96F10	SAT2_HUMAN	126	R	C	Polymorphism	-
Q96F15	GIMA5_HUMAN	204	L	P	Unclassified	-
Q96F25	ALG14_HUMAN	14	V	M	Polymorphism	-
Q96F25	ALG14_HUMAN	65	P	L	Disease	Myasthenic syndrome, congenital, 15 (CMS15) [MIM:616227]
Q96F45	ZN503_HUMAN	509	N	K	Polymorphism	-
Q96F46	I17RA_HUMAN	562	P	Q	Polymorphism	-
Q96F46	I17RA_HUMAN	580	R	H	Polymorphism	-
Q96F46	I17RA_HUMAN	367	A	V	Polymorphism	-
Q96F81	DISP1_HUMAN	103	E	K	Polymorphism	-
Q96F86	EDC3_HUMAN	54	F	S	Disease	Mental retardation, autosomal recessive 50 (MRT50) [MIM:616460]
Q96FB5	RRNAD_HUMAN	400	V	L	Polymorphism	-
Q96FC7	PHIPL_HUMAN	342	V	L	Polymorphism	-
Q96FC9	DDX11_HUMAN	856	R	H	Polymorphism	-
Q96FC9	DDX11_HUMAN	567	Q	E	Polymorphism	-
Q96FC9	DDX11_HUMAN	966	W	C	Polymorphism	-
Q96FC9	DDX11_HUMAN	864	C	R	Polymorphism	-
Q96FC9	DDX11_HUMAN	263	R	Q	Disease	Warsaw breakage syndrome (WBRS) [MIM:613398]
Q96FC9	DDX11_HUMAN	39	I	S	Polymorphism	-
Q96FC9	DDX11_HUMAN	575	T	M	Polymorphism	-
Q96FC9	DDX11_HUMAN	951	C	R	Polymorphism	-
Q96FE5	LIGO1_HUMAN	183	S	F	Polymorphism	-
Q96FE5	LIGO1_HUMAN	290	R	H	Disease	Mental retardation, autosomal recessive 64 (MRT64) [MIM:618103]
Q96FE5	LIGO1_HUMAN	288	Y	C	Disease	Mental retardation, autosomal recessive 64 (MRT64) [MIM:618103]
Q96FE7	P3IP1_HUMAN	251	T	S	Polymorphism	-
Q96FF7	MISP3_HUMAN	198	V	A	Polymorphism	-
Q96FF9	CDCA5_HUMAN	156	S	Y	Polymorphism	-
Q96FG2	ELMD3_HUMAN	70	T	I	Polymorphism	-
Q96FG2	ELMD3_HUMAN	265	L	S	Disease	Deafness, autosomal recessive, 88 (DFNB88) [MIM:615429]
Q96FG2	ELMD3_HUMAN	66	R	C	Polymorphism	-
Q96FI4	NEIL1_HUMAN	83	G	D	Polymorphism	-
Q96FI4	NEIL1_HUMAN	252	D	N	Polymorphism	-
Q96FI4	NEIL1_HUMAN	136	C	R	Polymorphism	-
Q96FI4	NEIL1_HUMAN	82	S	C	Polymorphism	-
Q96FI4	NEIL1_HUMAN	159	R	Q	Polymorphism	-
Q96FI4	NEIL1_HUMAN	181	E	K	Polymorphism	-
Q96FI4	NEIL1_HUMAN	242	K	R	Unclassified	-
Q96FI4	NEIL1_HUMAN	182	I	M	Polymorphism	-
Q96FJ0	STALP_HUMAN	210	A	T	Polymorphism	-
Q96FJ0	STALP_HUMAN	204	E	K	Polymorphism	-
Q96FJ0	STALP_HUMAN	196	S	N	Polymorphism	-
Q96FL8	S47A1_HUMAN	338	V	I	Polymorphism	-
Q96FL9	GLT14_HUMAN	469	Q	K	Polymorphism	-
Q96FM1	PGAP3_HUMAN	92	G	D	Disease	Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) [MIM:615716]
Q96FM1	PGAP3_HUMAN	105	P	R	Disease	Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) [MIM:615716]
Q96FM1	PGAP3_HUMAN	305	D	G	Disease	Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) [MIM:615716]
Q96FN9	DTD2_HUMAN	6	R	W	Polymorphism	-
Q96FQ7	CR018_HUMAN	16	P	A	Polymorphism	-
Q96FS4	SIPA1_HUMAN	80	R	Q	Polymorphism	-
Q96FS4	SIPA1_HUMAN	106	A	S	Polymorphism	-
Q96FS4	SIPA1_HUMAN	174	E	D	Polymorphism	-
Q96FS4	SIPA1_HUMAN	182	S	F	Polymorphism	-
Q96FT7	ASIC4_HUMAN	619	V	A	Polymorphism	-
Q96FT7	ASIC4_HUMAN	616	R	L	Polymorphism	-
Q96FT7	ASIC4_HUMAN	614	P	Q	Polymorphism	-
Q96FT9	IFT43_HUMAN	85	R	H	Polymorphism	-
Q96FT9	IFT43_HUMAN	174	W	R	Disease	Short-rib thoracic dysplasia 18 with polydactyly (SRTD18) [MIM:617866]
Q96FT9	IFT43_HUMAN	34	E	K	Disease	Retinitis pigmentosa 81 (RP81) [MIM:617871]
Q96FV2	SCRN2_HUMAN	323	M	V	Polymorphism	-
Q96FV2	SCRN2_HUMAN	103	K	R	Polymorphism	-
Q96FV2	SCRN2_HUMAN	273	E	Q	Polymorphism	-
Q96FV2	SCRN2_HUMAN	411	S	G	Polymorphism	-
Q96FV2	SCRN2_HUMAN	330	Q	R	Polymorphism	-
Q96FV3	TSN17_HUMAN	140	I	T	Polymorphism	-
Q96FX7	TRM61_HUMAN	66	V	A	Polymorphism	-
Q96FX8	PERP_HUMAN	143	P	R	Polymorphism	-
Q96FX8	PERP_HUMAN	174	P	L	Polymorphism	-
Q96FZ7	CHMP6_HUMAN	55	G	S	Polymorphism	-
Q96G01	BICD1_HUMAN	778	T	A	Polymorphism	-
Q96G03	PGM2_HUMAN	488	E	D	Polymorphism	-
Q96G03	PGM2_HUMAN	10	G	D	Polymorphism	-
Q96G04	EF2KT_HUMAN	272	H	D	Polymorphism	-
Q96G04	EF2KT_HUMAN	123	S	C	Polymorphism	-
Q96G04	EF2KT_HUMAN	230	V	I	Polymorphism	-
Q96G04	EF2KT_HUMAN	270	R	W	Polymorphism	-
Q96G04	EF2KT_HUMAN	329	T	I	Polymorphism	-
Q96G23	CERS2_HUMAN	115	E	A	Polymorphism	-
Q96G28	CFA36_HUMAN	6	E	D	Polymorphism	-
Q96G28	CFA36_HUMAN	243	D	G	Polymorphism	-
Q96G28	CFA36_HUMAN	246	I	F	Polymorphism	-
Q96G30	MRAP2_HUMAN	125	R	C	Unclassified	-
Q96G30	MRAP2_HUMAN	115	L	V	Unclassified	-
Q96G30	MRAP2_HUMAN	88	N	Y	Unclassified	-
Q96G46	DUS3L_HUMAN	185	R	G	Polymorphism	-
Q96G46	DUS3L_HUMAN	609	D	N	Polymorphism	-
Q96G61	NUD11_HUMAN	39	S	N	Polymorphism	-
Q96G91	P2Y11_HUMAN	87	A	T	Polymorphism	-
Q96G97	BSCL2_HUMAN	90	S	L	Disease	Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685]
Q96G97	BSCL2_HUMAN	90	S	L	Disease	Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]
Q96G97	BSCL2_HUMAN	88	N	S	Disease	Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]
Q96G97	BSCL2_HUMAN	88	N	S	Disease	Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685]
Q96G97	BSCL2_HUMAN	212	A	P	Disease	Congenital generalized lipodystrophy 2 (CGL2) [MIM:269700]
Q96GC5	RM48_HUMAN	6	E	G	Polymorphism	-
Q96GC6	ZN274_HUMAN	147	V	I	Polymorphism	-
Q96GD4	AURKB_HUMAN	179	T	M	Polymorphism	-
Q96GD4	AURKB_HUMAN	100	H	Q	Polymorphism	-
Q96GD4	AURKB_HUMAN	52	A	V	Polymorphism	-
Q96GD4	AURKB_HUMAN	298	M	T	Polymorphism	-
Q96GE4	CEP95_HUMAN	165	M	I	Polymorphism	-
Q96GE4	CEP95_HUMAN	811	A	V	Polymorphism	-
Q96GE5	ZN799_HUMAN	44	G	V	Polymorphism	-
Q96GE5	ZN799_HUMAN	593	C	R	Polymorphism	-
Q96GE6	CALL4_HUMAN	28	R	C	Polymorphism	-
Q96GE6	CALL4_HUMAN	154	T	K	Polymorphism	-
Q96GE9	DMAC1_HUMAN	28	P	T	Polymorphism	-
Q96GJ1	TRM2_HUMAN	12	S	R	Polymorphism	-
Q96GK7	FAH2A_HUMAN	198	M	T	Polymorphism	-
Q96GM1	PLPR2_HUMAN	155	T	M	Unclassified	A colorectal cancer sample
Q96GM8	TOE1_HUMAN	148	F	Y	Disease	Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]
Q96GM8	TOE1_HUMAN	220	E	K	Disease	Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]
Q96GM8	TOE1_HUMAN	239	F	S	Disease	Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]
Q96GM8	TOE1_HUMAN	73	R	S	Disease	Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]
Q96GM8	TOE1_HUMAN	381	E	K	Polymorphism	-
Q96GM8	TOE1_HUMAN	341	R	H	Polymorphism	-
Q96GM8	TOE1_HUMAN	319	H	Q	Disease	Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]
Q96GM8	TOE1_HUMAN	496	S	F	Disease	Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]
Q96GM8	TOE1_HUMAN	253	R	W	Disease	Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]
Q96GM8	TOE1_HUMAN	103	A	T	Disease	Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]
Q96GM8	TOE1_HUMAN	319	H	Y	Disease	Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]
Q96GM8	TOE1_HUMAN	173	V	G	Disease	Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]
Q96GN5	CDA7L_HUMAN	187	R	S	Polymorphism	-
Q96GP6	SREC2_HUMAN	838	A	G	Polymorphism	-
Q96GP6	SREC2_HUMAN	499	R	C	Unclassified	A breast cancer sample
Q96GP6	SREC2_HUMAN	258	C	Y	Disease	Van den Ende-Gupta syndrome (VDEGS) [MIM:600920]
Q96GP6	SREC2_HUMAN	425	T	S	Polymorphism	-
Q96GP6	SREC2_HUMAN	778	E	D	Polymorphism	-
Q96GP6	SREC2_HUMAN	820	A	G	Polymorphism	-
Q96GP6	SREC2_HUMAN	174	P	S	Polymorphism	-
Q96GP6	SREC2_HUMAN	522	H	L	Polymorphism	-
Q96GP6	SREC2_HUMAN	779	L	V	Polymorphism	-
Q96GQ5	RUS1_HUMAN	43	G	E	Unclassified	A breast cancer sample
Q96GQ5	RUS1_HUMAN	185	Y	C	Polymorphism	-
Q96GQ7	DDX27_HUMAN	766	G	S	Polymorphism	-
Q96GR2	ACBG1_HUMAN	673	A	V	Polymorphism	-
Q96GR2	ACBG1_HUMAN	194	E	V	Polymorphism	-
Q96GR2	ACBG1_HUMAN	633	M	V	Polymorphism	-
Q96GR4	ZDH12_HUMAN	69	P	S	Polymorphism	-
Q96GR4	ZDH12_HUMAN	172	Q	L	Polymorphism	-
Q96GW7	PGCB_HUMAN	504	E	K	Polymorphism	-
Q96GW7	PGCB_HUMAN	356	S	L	Polymorphism	-
Q96GW9	SYMM_HUMAN	142	R	W	Disease	Combined oxidative phosphorylation deficiency 25 (COXPD25) [MIM:616430]
Q96GX5	GWL_HUMAN	610	V	I	Polymorphism	-
Q96GX5	GWL_HUMAN	606	D	Y	Polymorphism	-
Q96GX5	GWL_HUMAN	167	E	D	Unclassified	-
Q96GX5	GWL_HUMAN	337	T	K	Polymorphism	-
Q96GX5	GWL_HUMAN	620	P	A	Polymorphism	-
Q96GX9	MTNB_HUMAN	7	R	W	Polymorphism	-
Q96GX9	MTNB_HUMAN	181	M	V	Polymorphism	-
Q96GX9	MTNB_HUMAN	23	H	R	Polymorphism	-
Q96GX9	MTNB_HUMAN	76	C	Y	Polymorphism	-
Q96GY0	ZC21A_HUMAN	156	T	A	Polymorphism	-
Q96GY3	LIN37_HUMAN	172	P	S	Polymorphism	-
Q96GY3	LIN37_HUMAN	16	A	V	Polymorphism	-
Q96GZ6	S41A3_HUMAN	71	V	M	Polymorphism	-
Q96GZ6	S41A3_HUMAN	62	T	A	Polymorphism	-
Q96H15	TIMD4_HUMAN	365	V	M	Polymorphism	-
Q96H15	TIMD4_HUMAN	240	V	A	Polymorphism	-
Q96H22	CENPN_HUMAN	288	E	K	Polymorphism	-
Q96H22	CENPN_HUMAN	223	Q	R	Polymorphism	-
Q96H22	CENPN_HUMAN	84	E	D	Polymorphism	-
Q96H55	MYO19_HUMAN	475	L	I	Polymorphism	-
Q96H55	MYO19_HUMAN	176	N	S	Polymorphism	-
Q96H55	MYO19_HUMAN	203	Q	H	Polymorphism	-
Q96H72	S39AD_HUMAN	28	E	G	Polymorphism	-
Q96H72	S39AD_HUMAN	346	P	L	Polymorphism	-
Q96H78	S2544_HUMAN	52	S	I	Polymorphism	-
Q96H86	ZN764_HUMAN	332	A	V	Polymorphism	-
Q96H96	COQ2_HUMAN	247	Y	C	Disease	Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
Q96H96	COQ2_HUMAN	16	L	V	Polymorphism	-
Q96H96	COQ2_HUMAN	57	S	T	Disease	Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96	COQ2_HUMAN	107	P	S	Disease	Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96	COQ2_HUMAN	343	V	A	Disease	Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96	COQ2_HUMAN	49	P	H	Disease	Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96	COQ2_HUMAN	96	S	N	Disease	Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
Q96H96	COQ2_HUMAN	78	M	V	Disease	Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96	COQ2_HUMAN	22	P	L	Polymorphism	-
Q96H96	COQ2_HUMAN	97	I	T	Disease	Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96	COQ2_HUMAN	69	R	H	Polymorphism	-
Q96H96	COQ2_HUMAN	336	N	H	Polymorphism	-
Q96H96	COQ2_HUMAN	340	G	A	Unclassified	Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
Q96H96	COQ2_HUMAN	337	R	Q	Disease	Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96	COQ2_HUMAN	113	S	F	Disease	Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96	COQ2_HUMAN	267	T	A	Disease	Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96	COQ2_HUMAN	178	N	S	Disease	Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
Q96H96	COQ2_HUMAN	297	S	C	Disease	Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96	COQ2_HUMAN	147	R	H	Disease	Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
Q96H96	COQ2_HUMAN	252	A	V	Disease	Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
Q96H96	COQ2_HUMAN	29	F	L	Disease	Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96	COQ2_HUMAN	132	M	R	Disease	Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
Q96HA1	P121A_HUMAN	1215	A	G	Polymorphism	-
Q96HA7	TONSL_HUMAN	714	A	V	Polymorphism	-
Q96HA7	TONSL_HUMAN	1276	P	L	Polymorphism	-
Q96HA7	TONSL_HUMAN	493	G	S	Polymorphism	-
Q96HA7	TONSL_HUMAN	488	V	M	Polymorphism	-
Q96HA8	NTAQ1_HUMAN	116	F	I	Polymorphism	-
Q96HA8	NTAQ1_HUMAN	93	N	S	Polymorphism	-
Q96HA8	NTAQ1_HUMAN	32	I	V	Polymorphism	-
Q96HA8	NTAQ1_HUMAN	134	R	C	Polymorphism	-
Q96HA9	PX11C_HUMAN	91	C	W	Polymorphism	-
Q96HC4	PDLI5_HUMAN	381	T	A	Polymorphism	-
Q96HC4	PDLI5_HUMAN	136	S	F	Polymorphism	-
Q96HC4	PDLI5_HUMAN	345	A	T	Polymorphism	-
Q96HC4	PDLI5_HUMAN	492	S	N	Polymorphism	-
Q96HC4	PDLI5_HUMAN	388	P	S	Polymorphism	-
Q96HC4	PDLI5_HUMAN	319	S	L	Polymorphism	-
Q96HD1	CREL1_HUMAN	128	P	R	Polymorphism	-
Q96HD1	CREL1_HUMAN	162	P	A	Disease	Atrioventricular septal defect 2 (AVSD2) [MIM:606217]
Q96HD1	CREL1_HUMAN	13	M	V	Polymorphism	-
Q96HD1	CREL1_HUMAN	107	R	H	Disease	Atrioventricular septal defect 2 (AVSD2) [MIM:606217]
Q96HD1	CREL1_HUMAN	311	T	I	Disease	Atrioventricular septal defect 2 (AVSD2) [MIM:606217]
Q96HD1	CREL1_HUMAN	329	R	C	Disease	Atrioventricular septal defect 2 (AVSD2) [MIM:606217]
Q96HD9	ACY3_HUMAN	281	V	M	Polymorphism	-
Q96HD9	ACY3_HUMAN	8	R	Q	Polymorphism	-
Q96HF1	SFRP2_HUMAN	45	A	V	Polymorphism	-
Q96HI0	SENP5_HUMAN	83	N	S	Polymorphism	-
Q96HI0	SENP5_HUMAN	340	L	F	Polymorphism	-
Q96HJ3	CCD34_HUMAN	319	I	V	Polymorphism	-
Q96HJ3	CCD34_HUMAN	53	P	S	Polymorphism	-
Q96HJ3	CCD34_HUMAN	264	E	A	Polymorphism	-
Q96HJ3	CCD34_HUMAN	192	H	N	Polymorphism	-
Q96HJ9	FMC1_HUMAN	8	S	A	Polymorphism	-
Q96HM7	PED1B_HUMAN	429	P	A	Polymorphism	-
Q96HP0	DOCK6_HUMAN	665	G	R	Polymorphism	-
Q96HP0	DOCK6_HUMAN	555	P	L	Polymorphism	-
Q96HP0	DOCK6_HUMAN	826	R	C	Polymorphism	-
Q96HP0	DOCK6_HUMAN	1420	V	L	Polymorphism	-
Q96HP0	DOCK6_HUMAN	1442	A	T	Polymorphism	-
Q96HP0	DOCK6_HUMAN	250	P	L	Polymorphism	-
Q96HP4	OXND1_HUMAN	59	R	Q	Polymorphism	-
Q96HP4	OXND1_HUMAN	82	R	C	Polymorphism	-
Q96HP4	OXND1_HUMAN	64	S	A	Polymorphism	-
Q96HP8	T176A_HUMAN	187	L	F	Polymorphism	-
Q96HP8	T176A_HUMAN	122	T	A	Polymorphism	-
Q96HP8	T176A_HUMAN	208	T	A	Polymorphism	-
Q96HQ0	ZN419_HUMAN	141	E	Q	Polymorphism	-
Q96HQ0	ZN419_HUMAN	336	I	V	Polymorphism	-
Q96HR8	NAF1_HUMAN	162	I	V	Polymorphism	-
Q96HR8	NAF1_HUMAN	43	P	S	Polymorphism	-
Q96HR9	REEP6_HUMAN	75	E	K	Disease	Retinitis pigmentosa 77 (RP77) [MIM:617304]
Q96HR9	REEP6_HUMAN	135	L	P	Disease	Retinitis pigmentosa 77 (RP77) [MIM:617304]
Q96HR9	REEP6_HUMAN	128	P	L	Disease	Retinitis pigmentosa 77 (RP77) [MIM:617304]
Q96HR9	REEP6_HUMAN	150	A	D	Polymorphism	-
Q96HU1	SGSM3_HUMAN	279	H	Q	Polymorphism	-
Q96HU1	SGSM3_HUMAN	20	W	R	Polymorphism	-
Q96HY6	DDRGK_HUMAN	303	A	T	Polymorphism	-
Q96HY7	DHTK1_HUMAN	729	G	R	Disease	2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750]
Q96HY7	DHTK1_HUMAN	308	R	L	Polymorphism	-
Q96HY7	DHTK1_HUMAN	350	N	D	Polymorphism	-
Q96HY7	DHTK1_HUMAN	20	F	L	Polymorphism	-
Q96HY7	DHTK1_HUMAN	607	I	M	Polymorphism	-
Q96HY7	DHTK1_HUMAN	272	Y	D	Polymorphism	-
Q96HZ4	HES6_HUMAN	218	R	Q	Polymorphism	-
Q96I15	SCLY_HUMAN	52	K	E	Polymorphism	-
Q96I15	SCLY_HUMAN	175	A	T	Polymorphism	-
Q96I15	SCLY_HUMAN	276	F	S	Polymorphism	-
Q96I27	ZN625_HUMAN	41	V	M	Polymorphism	-
Q96I36	COX14_HUMAN	19	M	I	Polymorphism	-
Q96I51	RCC1L_HUMAN	30	R	G	Polymorphism	-
Q96I59	SYNM_HUMAN	87	N	T	Polymorphism	-
Q96I59	SYNM_HUMAN	381	N	S	Disease	Leigh syndrome (LS) [MIM:256000]
Q96I59	SYNM_HUMAN	214	P	L	Disease	Combined oxidative phosphorylation deficiency 24 (COXPD24) [MIM:616239]
Q96I59	SYNM_HUMAN	213	V	F	Unclassified	-
Q96I76	GPTC3_HUMAN	234	N	S	Unclassified	-
Q96I76	GPTC3_HUMAN	137	R	C	Unclassified	-
Q96I76	GPTC3_HUMAN	23	V	M	Unclassified	-
Q96I76	GPTC3_HUMAN	475	G	E	Unclassified	-
Q96I82	KAZD1_HUMAN	76	C	G	Polymorphism	-
Q96I82	KAZD1_HUMAN	255	G	A	Polymorphism	-
Q96I82	KAZD1_HUMAN	256	R	H	Polymorphism	-
Q96I82	KAZD1_HUMAN	236	G	D	Polymorphism	-
Q96I99	SUCB2_HUMAN	347	K	R	Polymorphism	-
Q96I99	SUCB2_HUMAN	381	R	W	Polymorphism	-
Q96ID5	IGS21_HUMAN	245	R	H	Polymorphism	-
Q96ID5	IGS21_HUMAN	467	T	M	Unclassified	A colorectal cancer sample
Q96ID5	IGS21_HUMAN	379	T	M	Polymorphism	-
Q96II8	LRCH3_HUMAN	522	P	L	Polymorphism	-
Q96IJ6	GMPPA_HUMAN	401	N	T	Disease	Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
Q96IJ6	GMPPA_HUMAN	156	V	A	Polymorphism	-
Q96IJ6	GMPPA_HUMAN	334	T	P	Disease	Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
Q96IJ6	GMPPA_HUMAN	334	T	M	Disease	Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
Q96IJ6	GMPPA_HUMAN	390	R	P	Disease	Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
Q96IJ6	GMPPA_HUMAN	182	G	D	Disease	Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
Q96IJ6	GMPPA_HUMAN	21	S	F	Polymorphism	-
Q96IL0	APOP1_HUMAN	88	N	S	Polymorphism	-
Q96IL0	APOP1_HUMAN	27	P	A	Polymorphism	-
Q96IM9	DYDC2_HUMAN	143	G	S	Polymorphism	-
Q96IP4	TET5A_HUMAN	313	T	A	Polymorphism	-
Q96IP4	TET5A_HUMAN	127	H	R	Unclassified	Osteogenesis imperfecta 18 (OI18) [MIM:617952]
Q96IP4	TET5A_HUMAN	231	D	G	Unclassified	Osteogenesis imperfecta 18 (OI18) [MIM:617952]
Q96IQ9	ZN414_HUMAN	77	P	S	Polymorphism	-
Q96IQ9	ZN414_HUMAN	65	Q	R	Polymorphism	-
Q96IS3	RAX2_HUMAN	87	R	Q	Disease	Macular degeneration, age-related, 6 (ARMD6) [MIM:613757]
Q96IS3	RAX2_HUMAN	137	G	R	Disease	Cone-rod dystrophy 11 (CORD11) [MIM:610381]
Q96IV0	NGLY1_HUMAN	581	V	I	Polymorphism	-
Q96IV0	NGLY1_HUMAN	591	Q	R	Polymorphism	-
Q96IV6	FXDC2_HUMAN	133	R	H	Polymorphism	-
Q96IW2	SHD_HUMAN	270	N	S	Polymorphism	-
Q96IW2	SHD_HUMAN	138	G	S	Polymorphism	-
Q96IY1	NSL1_HUMAN	254	M	V	Polymorphism	-
Q96IY1	NSL1_HUMAN	4	S	F	Polymorphism	-
Q96IY4	CBPB2_HUMAN	347	I	T	Polymorphism	-
Q96IY4	CBPB2_HUMAN	169	A	T	Polymorphism	-
Q96IZ0	PAWR_HUMAN	137	G	A	Polymorphism	-
Q96IZ0	PAWR_HUMAN	78	P	R	Polymorphism	-
Q96IZ0	PAWR_HUMAN	42	P	L	Polymorphism	-
Q96IZ0	PAWR_HUMAN	202	E	A	Polymorphism	-
Q96IZ2	ADTRP_HUMAN	202	V	I	Polymorphism	-
Q96IZ5	RBM41_HUMAN	376	H	Y	Polymorphism	-
Q96J01	THOC3_HUMAN	326	C	F	Polymorphism	-
Q96J42	TXD15_HUMAN	248	S	P	Unclassified	A breast cancer sample
Q96J65	MRP9_HUMAN	690	E	V	Polymorphism	-
Q96J65	MRP9_HUMAN	587	N	Y	Polymorphism	-
Q96J65	MRP9_HUMAN	1117	R	C	Polymorphism	-
Q96J65	MRP9_HUMAN	1349	F	L	Polymorphism	-
Q96J65	MRP9_HUMAN	102	A	E	Polymorphism	-
Q96J65	MRP9_HUMAN	894	K	M	Polymorphism	-
Q96J65	MRP9_HUMAN	1191	E	A	Polymorphism	-
Q96J65	MRP9_HUMAN	989	T	S	Polymorphism	-
Q96J65	MRP9_HUMAN	1013	Y	H	Polymorphism	-
Q96J65	MRP9_HUMAN	1187	I	T	Polymorphism	-
Q96J65	MRP9_HUMAN	9	I	L	Polymorphism	-
Q96J66	ABCCB_HUMAN	970	M	V	Polymorphism	-
Q96J66	ABCCB_HUMAN	19	R	H	Polymorphism	-
Q96J66	ABCCB_HUMAN	735	K	R	Polymorphism	-
Q96J66	ABCCB_HUMAN	1344	H	R	Polymorphism	-
Q96J66	ABCCB_HUMAN	648	V	I	Polymorphism	-
Q96J66	ABCCB_HUMAN	687	V	I	Polymorphism	-
Q96J66	ABCCB_HUMAN	630	R	W	Polymorphism	-
Q96J66	ABCCB_HUMAN	180	G	R	Polymorphism	-
Q96J66	ABCCB_HUMAN	317	A	E	Polymorphism	-
Q96J66	ABCCB_HUMAN	546	T	M	Polymorphism	-
Q96J77	TPD55_HUMAN	118	F	L	Polymorphism	-
Q96J84	KIRR1_HUMAN	78	A	T	Polymorphism	-
Q96J86	CYYR1_HUMAN	111	P	S	Polymorphism	-
Q96J86	CYYR1_HUMAN	95	R	H	Polymorphism	-
Q96J87	CELF6_HUMAN	152	R	P	Polymorphism	-
Q96J92	WNK4_HUMAN	1185	R	C	Disease	Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491]
Q96J92	WNK4_HUMAN	1013	L	P	Polymorphism	-
Q96J92	WNK4_HUMAN	565	Q	E	Disease	Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491]
Q96J92	WNK4_HUMAN	992	P	S	Unclassified	A metastatic melanoma sample
Q96J92	WNK4_HUMAN	601	A	S	Polymorphism	-
Q96J92	WNK4_HUMAN	677	R	W	Polymorphism	-
Q96J92	WNK4_HUMAN	961	P	S	Polymorphism	-
Q96J92	WNK4_HUMAN	434	E	D	Unclassified	An ovarian mucinous carcinoma sample
Q96J92	WNK4_HUMAN	564	D	A	Disease	Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491]
Q96J92	WNK4_HUMAN	562	E	K	Disease	Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491]
Q96J92	WNK4_HUMAN	813	P	L	Polymorphism	-
Q96J94	PIWL1_HUMAN	220	L	G	Disease	-
Q96J94	PIWL1_HUMAN	575	L	P	Polymorphism	-
Q96J94	PIWL1_HUMAN	527	R	K	Polymorphism	-
Q96J94	PIWL1_HUMAN	220	L	R	Disease	-
Q96J94	PIWL1_HUMAN	217	R	A	Disease	-
Q96J94	PIWL1_HUMAN	491	K	N	Polymorphism	-
Q96J94	PIWL1_HUMAN	224	N	H	Disease	-
Q96J94	PIWL1_HUMAN	220	L	A	Disease	-
Q96JA1	LRIG1_HUMAN	1031	P	R	Polymorphism	-
Q96JA1	LRIG1_HUMAN	24	L	V	Polymorphism	-
Q96JA1	LRIG1_HUMAN	615	M	V	Polymorphism	-
Q96JA1	LRIG1_HUMAN	926	G	S	Polymorphism	-
Q96JA1	LRIG1_HUMAN	1053	Q	P	Polymorphism	-
Q96JA1	LRIG1_HUMAN	993	G	A	Polymorphism	-
Q96JA1	LRIG1_HUMAN	957	A	T	Polymorphism	-
Q96JA3	PKHA8_HUMAN	368	V	E	Unclassified	A breast cancer sample
Q96JA4	M4A14_HUMAN	584	G	R	Polymorphism	-
Q96JA4	M4A14_HUMAN	177	N	Y	Polymorphism	-
Q96JB1	DYH8_HUMAN	807	G	E	Polymorphism	-
Q96JB1	DYH8_HUMAN	573	I	V	Polymorphism	-
Q96JB1	DYH8_HUMAN	727	A	T	Polymorphism	-
Q96JB1	DYH8_HUMAN	4106	T	M	Polymorphism	-
Q96JB1	DYH8_HUMAN	71	N	S	Polymorphism	-
Q96JB1	DYH8_HUMAN	1202	E	K	Polymorphism	-
Q96JB1	DYH8_HUMAN	2444	T	N	Polymorphism	-
Q96JB1	DYH8_HUMAN	2226	T	M	Unclassified	A colorectal cancer sample
Q96JB1	DYH8_HUMAN	4271	I	V	Polymorphism	-
Q96JB1	DYH8_HUMAN	473	G	R	Polymorphism	-
Q96JB2	COG3_HUMAN	747	N	S	Polymorphism	-
Q96JB2	COG3_HUMAN	620	R	C	Unclassified	A breast cancer sample
Q96JB5	CK5P3_HUMAN	324	L	V	Polymorphism	-
Q96JB6	LOXL4_HUMAN	372	P	T	Polymorphism	-
Q96JB6	LOXL4_HUMAN	405	D	A	Polymorphism	-
Q96JB6	LOXL4_HUMAN	154	R	Q	Polymorphism	-
Q96JB8	MPP4_HUMAN	562	V	I	Polymorphism	-
Q96JB8	MPP4_HUMAN	44	G	S	Polymorphism	-
Q96JD6	AKCL2_HUMAN	52	C	G	Polymorphism	-
Q96JD6	AKCL2_HUMAN	86	K	R	Polymorphism	-
Q96JE7	SC16B_HUMAN	292	H	R	Polymorphism	-
Q96JE7	SC16B_HUMAN	864	P	A	Polymorphism	-
Q96JE7	SC16B_HUMAN	845	Q	H	Polymorphism	-
Q96JE7	SC16B_HUMAN	873	S	N	Polymorphism	-
Q96JE7	SC16B_HUMAN	730	G	R	Polymorphism	-
Q96JE9	MAP6_HUMAN	247	I	M	Polymorphism	-
Q96JF0	SIAT2_HUMAN	154	G	R	Polymorphism	-
Q96JF0	SIAT2_HUMAN	341	I	V	Polymorphism	-
Q96JF6	ZN594_HUMAN	166	Q	H	Polymorphism	-
Q96JF6	ZN594_HUMAN	171	I	T	Polymorphism	-
Q96JF6	ZN594_HUMAN	199	V	G	Polymorphism	-
Q96JG9	ZN469_HUMAN	357	S	P	Polymorphism	-
Q96JG9	ZN469_HUMAN	2710	A	T	Polymorphism	-
Q96JG9	ZN469_HUMAN	3636	T	A	Polymorphism	-
Q96JG9	ZN469_HUMAN	1162	K	E	Polymorphism	-
Q96JG9	ZN469_HUMAN	1420	P	L	Polymorphism	-
Q96JG9	ZN469_HUMAN	366	R	S	Polymorphism	-
Q96JG9	ZN469_HUMAN	2358	G	R	Polymorphism	-
Q96JG9	ZN469_HUMAN	2749	D	V	Polymorphism	-
Q96JG9	ZN469_HUMAN	3630	E	Q	Polymorphism	-
Q96JG9	ZN469_HUMAN	2129	R	K	Polymorphism	-
Q96JG9	ZN469_HUMAN	2670	L	Q	Polymorphism	-
Q96JG9	ZN469_HUMAN	2848	H	R	Polymorphism	-
Q96JH8	RADIL_HUMAN	412	H	D	Polymorphism	-
Q96JH8	RADIL_HUMAN	239	D	N	Polymorphism	-
Q96JH8	RADIL_HUMAN	938	L	P	Polymorphism	-
Q96JH8	RADIL_HUMAN	886	S	G	Polymorphism	-
Q96JI7	SPTCS_HUMAN	1270	V	D	Unclassified	Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]
Q96JI7	SPTCS_HUMAN	1208	P	L	Unclassified	Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]
Q96JI7	SPTCS_HUMAN	1349	F	I	Disease	Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]
Q96JI7	SPTCS_HUMAN	2300	L	P	Unclassified	Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]
Q96JI7	SPTCS_HUMAN	412	S	L	Unclassified	Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]
Q96JI7	SPTCS_HUMAN	463	F	S	Polymorphism	-
Q96JI7	SPTCS_HUMAN	2334	A	P	Unclassified	Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]
Q96JI7	SPTCS_HUMAN	396	Y	C	Polymorphism	-
Q96JJ3	ELMO2_HUMAN	695	E	D	Polymorphism	-
Q96JJ7	TMX3_HUMAN	61	P	S	Polymorphism	-
Q96JK4	HIPL1_HUMAN	692	V	A	Polymorphism	-
Q96JL9	ZN333_HUMAN	251	A	E	Polymorphism	-
Q96JL9	ZN333_HUMAN	537	A	V	Polymorphism	-
Q96JM2	ZN462_HUMAN	404	M	V	Polymorphism	-
Q96JM2	ZN462_HUMAN	1828	N	S	Polymorphism	-
Q96JM2	ZN462_HUMAN	1187	P	S	Polymorphism	-
Q96JM2	ZN462_HUMAN	2452	H	L	Polymorphism	-
Q96JM2	ZN462_HUMAN	2052	K	R	Polymorphism	-
Q96JM3	CHAP1_HUMAN	568	L	V	Polymorphism	-
Q96JM3	CHAP1_HUMAN	604	P	R	Polymorphism	-
Q96JM3	CHAP1_HUMAN	591	K	R	Polymorphism	-
Q96JM4	LRIQ1_HUMAN	83	C	Y	Polymorphism	-
Q96JM4	LRIQ1_HUMAN	29	I	N	Polymorphism	-
Q96JM4	LRIQ1_HUMAN	912	A	T	Polymorphism	-
Q96JM7	LMBL3_HUMAN	183	T	N	Polymorphism	-
Q96JN2	CC136_HUMAN	218	D	H	Polymorphism	-
Q96JN2	CC136_HUMAN	1049	Q	E	Polymorphism	-
Q96JN8	NEUL4_HUMAN	1019	Q	H	Polymorphism	-
Q96JP0	FEM1C_HUMAN	434	D	N	Unclassified	A breast cancer sample
Q96JP0	FEM1C_HUMAN	462	D	N	Unclassified	A breast cancer sample
Q96JP2	MY15B_HUMAN	547	R	W	Polymorphism	-
Q96JP5	ZFP91_HUMAN	37	V	I	Polymorphism	-
Q96JP5	ZFP91_HUMAN	207	S	G	Polymorphism	-
Q96JP9	CDHR1_HUMAN	53	H	Q	Polymorphism	-
Q96JP9	CDHR1_HUMAN	212	A	T	Polymorphism	-
Q96JP9	CDHR1_HUMAN	574	P	A	Disease	Cone-rod dystrophy 15 (CORD15) [MIM:613660]
Q96JP9	CDHR1_HUMAN	532	P	A	Polymorphism	-
Q96JP9	CDHR1_HUMAN	243	A	V	Polymorphism	-
Q96JP9	CDHR1_HUMAN	716	T	S	Unclassified	-
Q96JQ0	PCD16_HUMAN	2172	L	Q	Polymorphism	-
Q96JQ0	PCD16_HUMAN	2359	R	C	Polymorphism	-
Q96JQ0	PCD16_HUMAN	197	P	L	Polymorphism	-
Q96JQ0	PCD16_HUMAN	2513	R	H	Disease	Mitral valve prolapse 2 (MVP2) [MIM:607829]
Q96JQ0	PCD16_HUMAN	2330	R	C	Disease	Mitral valve prolapse 2 (MVP2) [MIM:607829]
Q96JQ0	PCD16_HUMAN	2370	N	I	Disease	Van Maldergem syndrome 1 (VMLDS1) [MIM:601390]
Q96JQ0	PCD16_HUMAN	1583	R	W	Unclassified	A colorectal cancer sample
Q96JQ0	PCD16_HUMAN	1949	T	M	Polymorphism	-
Q96JQ0	PCD16_HUMAN	2331	V	I	Polymorphism	-
Q96JQ2	CLMN_HUMAN	963	P	L	Polymorphism	-
Q96JQ5	M4A4A_HUMAN	178	M	V	Polymorphism	-
Q96JQ5	M4A4A_HUMAN	52	K	E	Polymorphism	-
Q96JQ5	M4A4A_HUMAN	191	L	I	Polymorphism	-
Q96JS3	PGBD1_HUMAN	592	M	I	Polymorphism	-
Q96JS3	PGBD1_HUMAN	398	N	S	Polymorphism	-
Q96JS3	PGBD1_HUMAN	256	P	L	Polymorphism	-
Q96JS3	PGBD1_HUMAN	244	G	E	Polymorphism	-
Q96JS3	PGBD1_HUMAN	806	H	D	Polymorphism	-
Q96JS3	PGBD1_HUMAN	248	Q	E	Polymorphism	-
Q96JS3	PGBD1_HUMAN	244	G	R	Polymorphism	-
Q96JS3	PGBD1_HUMAN	678	I	V	Polymorphism	-
Q96JX3	SRAC1_HUMAN	401	G	D	Disease	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739]
Q96JX3	SRAC1_HUMAN	543	S	T	Polymorphism	-
Q96JX3	SRAC1_HUMAN	404	G	E	Disease	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739]
Q96JX3	SRAC1_HUMAN	526	G	E	Unclassified	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739]
Q96JX3	SRAC1_HUMAN	498	S	T	Disease	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739]
Q96JY0	MAEL_HUMAN	41	S	A	Polymorphism	-
Q96K19	RN170_HUMAN	199	R	C	Disease	Ataxia, sensory, 1, autosomal dominant (SNAX1) [MIM:608984]
Q96K21	ANCHR_HUMAN	376	S	A	Polymorphism	-
Q96K21	ANCHR_HUMAN	210	R	H	Polymorphism	-
Q96K21	ANCHR_HUMAN	398	R	C	Polymorphism	-
Q96K30	RITA1_HUMAN	220	T	K	Polymorphism	-
Q96K30	RITA1_HUMAN	113	S	W	Polymorphism	-
Q96K49	TM87B_HUMAN	456	N	D	Unclassified	-
Q96K58	ZN668_HUMAN	304	G	E	Polymorphism	-
Q96K58	ZN668_HUMAN	286	G	S	Unclassified	A breast cancer sample
Q96K58	ZN668_HUMAN	331	T	R	Unclassified	A breast cancer sample
Q96K58	ZN668_HUMAN	447	A	V	Polymorphism	-
Q96K58	ZN668_HUMAN	556	R	Q	Unclassified	A breast cancer sample
Q96K58	ZN668_HUMAN	25	V	L	Polymorphism	-
Q96K58	ZN668_HUMAN	66	A	T	Unclassified	A breast cancer sample
Q96K62	ZBT45_HUMAN	293	D	E	Polymorphism	-
Q96K76	UBP47_HUMAN	163	G	V	Polymorphism	-
Q96K78	AGRG7_HUMAN	645	T	S	Polymorphism	-
Q96K78	AGRG7_HUMAN	151	K	E	Polymorphism	-
Q96K78	AGRG7_HUMAN	756	R	H	Polymorphism	-
Q96KA5	CLP1L_HUMAN	313	K	N	Unclassified	A breast cancer sample
Q96KA5	CLP1L_HUMAN	537	T	M	Polymorphism	-
Q96KB5	TOPK_HUMAN	241	M	L	Polymorphism	-
Q96KB5	TOPK_HUMAN	107	N	S	Polymorphism	-
Q96KB5	TOPK_HUMAN	220	E	D	Polymorphism	-
Q96KC9	CABS1_HUMAN	76	K	Q	Polymorphism	-
Q96KC9	CABS1_HUMAN	298	W	G	Polymorphism	-
Q96KC9	CABS1_HUMAN	211	T	I	Polymorphism	-
Q96KD3	F71F1_HUMAN	228	S	L	Polymorphism	-
Q96KD3	F71F1_HUMAN	242	E	K	Polymorphism	-
Q96KF2	PRAC1_HUMAN	4	A	V	Polymorphism	-
Q96KG7	MEG10_HUMAN	71	R	W	Unclassified	Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399]
Q96KG7	MEG10_HUMAN	774	C	R	Disease	Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399]
Q96KG7	MEG10_HUMAN	206	V	I	Polymorphism	-
Q96KG7	MEG10_HUMAN	897	P	L	Polymorphism	-
Q96KG7	MEG10_HUMAN	1030	Y	C	Disease	-
Q96KG7	MEG10_HUMAN	1072	R	K	Polymorphism	-
Q96KG7	MEG10_HUMAN	326	C	R	Disease	Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399]
Q96KG9	SCYL1_HUMAN	755	W	S	Polymorphism	-
Q96KG9	SCYL1_HUMAN	663	Q	H	Polymorphism	-
Q96KG9	SCYL1_HUMAN	479	P	L	Polymorphism	-
Q96KG9	SCYL1_HUMAN	495	H	Y	Unclassified	A metastatic melanoma sample
Q96KJ4	MSLNL_HUMAN	597	S	G	Polymorphism	-
Q96KJ4	MSLNL_HUMAN	463	D	V	Polymorphism	-
Q96KJ9	COX42_HUMAN	138	E	K	Disease	Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]
Q96KJ9	COX42_HUMAN	161	R	H	Polymorphism	-
Q96KK3	KCNS1_HUMAN	508	Q	R	Polymorphism	-
Q96KK3	KCNS1_HUMAN	489	I	V	Polymorphism	-
Q96KK4	O10C1_HUMAN	121	R	C	Polymorphism	-
Q96KK4	O10C1_HUMAN	246	M	V	Polymorphism	-
Q96KK4	O10C1_HUMAN	89	R	S	Polymorphism	-
Q96KK4	O10C1_HUMAN	255	L	I	Polymorphism	-
Q96KK4	O10C1_HUMAN	60	F	L	Polymorphism	-
Q96KK4	O10C1_HUMAN	160	P	S	Polymorphism	-
Q96KK4	O10C1_HUMAN	161	F	L	Polymorphism	-
Q96KK4	O10C1_HUMAN	310	M	R	Polymorphism	-
Q96KK4	O10C1_HUMAN	138	R	W	Polymorphism	-
Q96KK4	O10C1_HUMAN	100	M	V	Polymorphism	-
Q96KK4	O10C1_HUMAN	57	P	S	Polymorphism	-
Q96KK4	O10C1_HUMAN	174	P	Q	Polymorphism	-
Q96KM6	Z512B_HUMAN	288	V	M	Polymorphism	-
Q96KM6	Z512B_HUMAN	372	M	V	Polymorphism	-
Q96KM6	Z512B_HUMAN	453	A	T	Polymorphism	-
Q96KN2	CNDP1_HUMAN	113	I	V	Polymorphism	-
Q96KN2	CNDP1_HUMAN	6	G	R	Polymorphism	-
Q96KN3	PKNX2_HUMAN	110	E	K	Polymorphism	-
Q96KN7	RPGR1_HUMAN	318	A	V	Polymorphism	-
Q96KN7	RPGR1_HUMAN	601	S	L	Polymorphism	-
Q96KN7	RPGR1_HUMAN	1057	H	L	Polymorphism	-
Q96KN7	RPGR1_HUMAN	1211	V	E	Disease	Leber congenital amaurosis 6 (LCA6) [MIM:613826]
Q96KN7	RPGR1_HUMAN	876	D	G	Polymorphism	-
Q96KN7	RPGR1_HUMAN	764	A	V	Polymorphism	-
Q96KN7	RPGR1_HUMAN	838	I	V	Polymorphism	-
Q96KN7	RPGR1_HUMAN	32	M	L	Polymorphism	-
Q96KN7	RPGR1_HUMAN	841	A	T	Polymorphism	-
Q96KN7	RPGR1_HUMAN	746	G	E	Disease	Leber congenital amaurosis 6 (LCA6) [MIM:613826]
Q96KN7	RPGR1_HUMAN	96	P	Q	Polymorphism	-
Q96KN7	RPGR1_HUMAN	589	Q	H	Polymorphism	-
Q96KN7	RPGR1_HUMAN	837	A	G	Polymorphism	-
Q96KN7	RPGR1_HUMAN	814	R	L	Polymorphism	-
Q96KN7	RPGR1_HUMAN	1130	E	Q	Unclassified	-
Q96KN7	RPGR1_HUMAN	1240	G	E	Polymorphism	-
Q96KN7	RPGR1_HUMAN	631	H	P	Disease	Leber congenital amaurosis 6 (LCA6) [MIM:613826]
Q96KN7	RPGR1_HUMAN	812	R	H	Unclassified	-
Q96KN7	RPGR1_HUMAN	192	K	E	Polymorphism	-
Q96KN7	RPGR1_HUMAN	883	G	D	Polymorphism	-
Q96KN7	RPGR1_HUMAN	960	A	P	Polymorphism	-
Q96KN7	RPGR1_HUMAN	1033	E	Q	Polymorphism	-
Q96KN7	RPGR1_HUMAN	806	T	I	Polymorphism	-
Q96KN7	RPGR1_HUMAN	603	C	S	Polymorphism	-
Q96KN7	RPGR1_HUMAN	635	A	G	Polymorphism	-
Q96KN7	RPGR1_HUMAN	363	R	T	Unclassified	-
Q96KN7	RPGR1_HUMAN	827	R	L	Disease	Cone-rod dystrophy 13 (CORD13) [MIM:608194]
Q96KN7	RPGR1_HUMAN	852	R	Q	Polymorphism	-
Q96KN7	RPGR1_HUMAN	1114	D	G	Disease	Leber congenital amaurosis 6 (LCA6) [MIM:613826]
Q96KN7	RPGR1_HUMAN	638	T	I	Polymorphism	-
Q96KN7	RPGR1_HUMAN	598	R	Q	Polymorphism	-
Q96KN7	RPGR1_HUMAN	135	S	R	Polymorphism	-
Q96KN7	RPGR1_HUMAN	432	S	F	Polymorphism	-
Q96KN7	RPGR1_HUMAN	547	A	S	Disease	Cone-rod dystrophy 13 (CORD13) [MIM:608194]
Q96KN7	RPGR1_HUMAN	585	P	S	Polymorphism	-
Q96KN7	RPGR1_HUMAN	601	S	W	Polymorphism	-
Q96KN8	PLAT5_HUMAN	31	S	G	Polymorphism	-
Q96KN8	PLAT5_HUMAN	214	Q	R	Polymorphism	-
Q96KN8	PLAT5_HUMAN	93	A	P	Polymorphism	-
Q96KN8	PLAT5_HUMAN	258	A	V	Polymorphism	-
Q96KN9	CXD4_HUMAN	271	G	R	Unclassified	A colorectal cancer sample
Q96KN9	CXD4_HUMAN	90	A	V	Polymorphism	-
Q96KN9	CXD4_HUMAN	269	R	H	Unclassified	A colorectal cancer sample
Q96KP1	EXOC2_HUMAN	195	N	T	Polymorphism	-
Q96KP4	CNDP2_HUMAN	126	Y	H	Polymorphism	-
Q96KP6	TNIP3_HUMAN	99	K	E	Polymorphism	-
Q96KQ7	EHMT2_HUMAN	1165	Y	F	Polymorphism	-
Q96KQ7	EHMT2_HUMAN	55	T	N	Polymorphism	-
Q96KR1	ZFR_HUMAN	319	L	P	Unclassified	-
Q96KR1	ZFR_HUMAN	520	I	T	Polymorphism	-
Q96KR1	ZFR_HUMAN	461	V	I	Polymorphism	-
Q96KR4	LMLN_HUMAN	106	E	D	Polymorphism	-
Q96KR6	F210B_HUMAN	126	P	S	Polymorphism	-
Q96KR7	PHAR3_HUMAN	154	P	L	Polymorphism	-
Q96KS9	F167A_HUMAN	56	H	Q	Polymorphism	-
Q96KS9	F167A_HUMAN	107	T	S	Polymorphism	-
Q96KT7	S35G5_HUMAN	307	L	P	Polymorphism	-
Q96KT7	S35G5_HUMAN	46	G	D	Polymorphism	-
Q96KV6	BT2A3_HUMAN	300	N	S	Polymorphism	-
Q96KV6	BT2A3_HUMAN	79	G	D	Polymorphism	-
Q96KV6	BT2A3_HUMAN	148	V	I	Polymorphism	-
Q96KV7	WDR90_HUMAN	537	V	A	Polymorphism	-
Q96KV7	WDR90_HUMAN	1555	C	R	Polymorphism	-
Q96KV7	WDR90_HUMAN	1492	R	H	Polymorphism	-
Q96KV7	WDR90_HUMAN	250	P	L	Polymorphism	-
Q96KV7	WDR90_HUMAN	165	S	T	Polymorphism	-
Q96KV7	WDR90_HUMAN	1001	P	T	Polymorphism	-
Q96KW9	SPAC7_HUMAN	25	R	W	Unclassified	A colorectal cancer sample
Q96KW9	SPAC7_HUMAN	111	V	D	Polymorphism	-
Q96KX1	CD036_HUMAN	36	S	Y	Polymorphism	-
Q96KX1	CD036_HUMAN	18	S	N	Polymorphism	-
Q96L03	SPT17_HUMAN	16	N	S	Polymorphism	-
Q96L08	SUSD3_HUMAN	136	K	E	Polymorphism	-
Q96L08	SUSD3_HUMAN	140	S	T	Unclassified	A breast cancer sample
Q96L12	CALR3_HUMAN	248	D	G	Polymorphism	-
Q96L12	CALR3_HUMAN	284	D	N	Polymorphism	-
Q96L12	CALR3_HUMAN	274	V	I	Polymorphism	-
Q96L12	CALR3_HUMAN	8	L	F	Polymorphism	-
Q96L12	CALR3_HUMAN	82	K	R	Unclassified	-
Q96L34	MARK4_HUMAN	377	R	Q	Polymorphism	-
Q96L34	MARK4_HUMAN	418	R	C	Unclassified	A colorectal adenocarcinoma sample
Q96L42	KCNH8_HUMAN	984	E	Q	Polymorphism	-
Q96L42	KCNH8_HUMAN	893	Q	R	Polymorphism	-
Q96L50	LLR1_HUMAN	96	I	N	Polymorphism	-
Q96L50	LLR1_HUMAN	229	R	W	Polymorphism	-
Q96L58	B3GT6_HUMAN	217	G	S	Disease	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
Q96L58	B3GT6_HUMAN	6	R	W	Disease	Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2) [MIM:615349]
Q96L58	B3GT6_HUMAN	309	S	T	Disease	Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2) [MIM:615349]
Q96L58	B3GT6_HUMAN	300	C	S	Disease	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
Q96L58	B3GT6_HUMAN	174	E	D	Polymorphism	-
Q96L58	B3GT6_HUMAN	67	P	L	Disease	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
Q96L58	B3GT6_HUMAN	65	S	G	Disease	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
Q96L58	B3GT6_HUMAN	156	D	N	Disease	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
Q96L58	B3GT6_HUMAN	232	R	C	Disease	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
Q96L58	B3GT6_HUMAN	207	D	H	Disease	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
Q96L73	NSD1_HUMAN	2017	R	W	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	1674	C	W	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	2261	M	T	Polymorphism	-
Q96L73	NSD1_HUMAN	1637	L	P	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	1925	C	R	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	1792	G	V	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	691	A	T	Polymorphism	-
Q96L73	NSD1_HUMAN	2143	H	Q	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	1997	Y	C	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	1955	G	D	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	2250	M	I	Polymorphism	-
Q96L73	NSD1_HUMAN	1984	R	Q	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	726	S	P	Polymorphism	-
Q96L73	NSD1_HUMAN	1091	L	I	Polymorphism	-
Q96L73	NSD1_HUMAN	2005	R	Q	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	1036	A	P	Polymorphism	-
Q96L73	NSD1_HUMAN	2017	R	Q	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	614	V	L	Polymorphism	-
Q96L73	NSD1_HUMAN	1687	I	N	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	2183	C	S	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L73	NSD1_HUMAN	1616	H	L	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
Q96L91	EP400_HUMAN	1308	T	I	Polymorphism	-
Q96L92	SNX27_HUMAN	459	E	K	Polymorphism	-
Q96L93	KI16B_HUMAN	772	K	T	Unclassified	A breast cancer sample
Q96L93	KI16B_HUMAN	999	K	N	Polymorphism	-
Q96L93	KI16B_HUMAN	1027	M	T	Polymorphism	-
Q96L93	KI16B_HUMAN	810	G	R	Polymorphism	-
Q96L93	KI16B_HUMAN	1119	N	S	Polymorphism	-
Q96L93	KI16B_HUMAN	824	R	S	Polymorphism	-
Q96L96	ALPK3_HUMAN	1412	R	W	Polymorphism	-
Q96L96	ALPK3_HUMAN	579	G	E	Polymorphism	-
Q96L96	ALPK3_HUMAN	1873	A	V	Polymorphism	-
Q96L96	ALPK3_HUMAN	836	R	L	Polymorphism	-
Q96L96	ALPK3_HUMAN	602	Q	R	Polymorphism	-
Q96L96	ALPK3_HUMAN	338	T	I	Polymorphism	-
Q96L96	ALPK3_HUMAN	1364	G	E	Unclassified	A metastatic melanoma sample
Q96L96	ALPK3_HUMAN	1299	P	L	Polymorphism	-
Q96L96	ALPK3_HUMAN	414	T	S	Polymorphism	-
Q96L96	ALPK3_HUMAN	1557	A	D	Polymorphism	-
Q96L96	ALPK3_HUMAN	336	R	H	Polymorphism	-
Q96L96	ALPK3_HUMAN	433	Q	E	Unclassified	A lung large cell carcinoma sample
Q96L96	ALPK3_HUMAN	663	G	D	Polymorphism	-
Q96L96	ALPK3_HUMAN	1013	E	K	Polymorphism	-
Q96L96	ALPK3_HUMAN	1622	L	P	Polymorphism	-
Q96L96	ALPK3_HUMAN	929	E	D	Polymorphism	-
Q96L96	ALPK3_HUMAN	1137	A	G	Polymorphism	-
Q96L96	ALPK3_HUMAN	761	T	M	Polymorphism	-
Q96LA5	FCRL2_HUMAN	202	I	N	Polymorphism	-
Q96LA6	FCRL1_HUMAN	124	V	M	Polymorphism	-
Q96LA8	ANM6_HUMAN	194	A	V	Polymorphism	-
Q96LA9	MRGX4_HUMAN	8	F	L	Polymorphism	-
Q96LA9	MRGX4_HUMAN	83	L	S	Polymorphism	-
Q96LA9	MRGX4_HUMAN	182	A	V	Polymorphism	-
Q96LA9	MRGX4_HUMAN	54	Y	C	Polymorphism	-
Q96LA9	MRGX4_HUMAN	245	N	S	Polymorphism	-
Q96LA9	MRGX4_HUMAN	25	N	K	Polymorphism	-
Q96LB0	MRGX3_HUMAN	82	C	R	Polymorphism	-
Q96LB0	MRGX3_HUMAN	169	N	D	Polymorphism	-
Q96LB1	MRGX2_HUMAN	16	N	H	Polymorphism	-
Q96LB1	MRGX2_HUMAN	78	F	L	Polymorphism	-
Q96LB1	MRGX2_HUMAN	62	N	S	Polymorphism	-
Q96LB1	MRGX2_HUMAN	43	V	I	Polymorphism	-
Q96LB2	MRGX1_HUMAN	46	A	T	Polymorphism	-
Q96LB2	MRGX1_HUMAN	36	I	V	Polymorphism	-
Q96LB2	MRGX1_HUMAN	133	H	R	Polymorphism	-
Q96LB2	MRGX1_HUMAN	137	H	R	Polymorphism	-
Q96LB2	MRGX1_HUMAN	273	F	L	Polymorphism	-
Q96LB2	MRGX1_HUMAN	55	R	L	Polymorphism	-
Q96LB2	MRGX1_HUMAN	131	R	S	Polymorphism	-
Q96LB3	IFT74_HUMAN	85	K	R	Polymorphism	-
Q96LB3	IFT74_HUMAN	55	I	M	Polymorphism	-
Q96LB3	IFT74_HUMAN	597	T	I	Polymorphism	-
Q96LB3	IFT74_HUMAN	579	V	M	Polymorphism	-
Q96LB3	IFT74_HUMAN	224	F	L	Polymorphism	-
Q96LB3	IFT74_HUMAN	355	N	T	Polymorphism	-
Q96LB3	IFT74_HUMAN	110	T	A	Polymorphism	-
Q96LB4	VATG3_HUMAN	54	E	Q	Polymorphism	-
Q96LB8	PGRP4_HUMAN	213	V	I	Polymorphism	-
Q96LB8	PGRP4_HUMAN	3	P	L	Polymorphism	-
Q96LB8	PGRP4_HUMAN	92	Q	R	Polymorphism	-
Q96LB8	PGRP4_HUMAN	192	G	V	Polymorphism	-
Q96LB8	PGRP4_HUMAN	13	I	L	Polymorphism	-
Q96LB8	PGRP4_HUMAN	301	D	N	Polymorphism	-
Q96LB9	PGRP3_HUMAN	35	A	T	Polymorphism	-
Q96LB9	PGRP3_HUMAN	126	G	S	Polymorphism	-
Q96LC7	SIG10_HUMAN	226	A	V	Polymorphism	-
Q96LC7	SIG10_HUMAN	520	R	S	Polymorphism	-
Q96LD4	TRI47_HUMAN	500	E	A	Polymorphism	-
Q96LD8	SENP8_HUMAN	207	T	A	Polymorphism	-
Q96LI9	CX058_HUMAN	24	R	C	Polymorphism	-
Q96LI9	CX058_HUMAN	187	R	H	Polymorphism	-
Q96LJ7	DHRS1_HUMAN	241	T	I	Polymorphism	-
Q96LK8	SPT32_HUMAN	142	V	M	Polymorphism	-
Q96LL4	CH048_HUMAN	28	S	F	Polymorphism	-
Q96LL4	CH048_HUMAN	285	L	M	Polymorphism	-
Q96LL9	DJC30_HUMAN	34	G	R	Polymorphism	-
Q96LL9	DJC30_HUMAN	167	F	L	Polymorphism	-
Q96LM5	CD045_HUMAN	93	G	E	Polymorphism	-
Q96LM5	CD045_HUMAN	46	A	V	Polymorphism	-
Q96LM5	CD045_HUMAN	84	Y	C	Polymorphism	-
Q96LM5	CD045_HUMAN	75	S	G	Polymorphism	-
Q96LM5	CD045_HUMAN	134	R	H	Polymorphism	-
Q96LM6	TEX37_HUMAN	24	D	N	Polymorphism	-
Q96LM9	CT173_HUMAN	141	K	E	Polymorphism	-
Q96LP2	FA81B_HUMAN	239	R	Q	Polymorphism	-
Q96LP2	FA81B_HUMAN	187	A	V	Polymorphism	-
Q96LP2	FA81B_HUMAN	275	P	S	Polymorphism	-
Q96LP2	FA81B_HUMAN	150	R	G	Polymorphism	-
Q96LP6	CL042_HUMAN	182	P	R	Polymorphism	-
Q96LP6	CL042_HUMAN	11	E	D	Polymorphism	-
Q96LQ0	PPR36_HUMAN	267	F	L	Polymorphism	-
Q96LQ0	PPR36_HUMAN	83	T	I	Polymorphism	-
Q96LS8	CB048_HUMAN	119	W	S	Polymorphism	-
Q96LS8	CB048_HUMAN	90	P	L	Polymorphism	-
Q96LT6	CA074_HUMAN	146	L	F	Polymorphism	-
Q96LT7	CI072_HUMAN	207	N	S	Polymorphism	-
Q96LT9	RNPC3_HUMAN	474	P	T	Disease	Growth hormone deficiency, isolated, 5 (IGHD5) [MIM:618160]
Q96LU7	MRFL_HUMAN	845	L	M	Polymorphism	-
Q96LU7	MRFL_HUMAN	753	A	S	Polymorphism	-
Q96LU7	MRFL_HUMAN	723	S	L	Polymorphism	-
Q96LW4	PRIPO_HUMAN	505	T	K	Polymorphism	-
Q96LW4	PRIPO_HUMAN	89	Y	D	Disease	Myopia 22, autosomal dominant (MYP22) [MIM:615420]
Q96LW4	PRIPO_HUMAN	168	R	Q	Polymorphism	-
Q96LW9	ZSC31_HUMAN	50	T	S	Polymorphism	-
Q96LW9	ZSC31_HUMAN	205	K	R	Polymorphism	-
Q96LW9	ZSC31_HUMAN	365	G	E	Polymorphism	-
Q96LW9	ZSC31_HUMAN	128	A	P	Polymorphism	-
Q96LW9	ZSC31_HUMAN	222	R	Q	Polymorphism	-
Q96LX7	CCD17_HUMAN	580	S	N	Polymorphism	-
Q96LX7	CCD17_HUMAN	353	P	L	Polymorphism	-
Q96LX7	CCD17_HUMAN	557	I	V	Polymorphism	-
Q96LX7	CCD17_HUMAN	470	V	I	Polymorphism	-
Q96LX8	ZN597_HUMAN	30	T	S	Polymorphism	-
Q96LY2	CC74B_HUMAN	346	R	H	Polymorphism	-
Q96LY2	CC74B_HUMAN	169	T	M	Polymorphism	-
Q96LZ2	MAGBA_HUMAN	50	F	S	Polymorphism	-
Q96LZ2	MAGBA_HUMAN	65	R	Q	Polymorphism	-
Q96LZ7	RMD2_HUMAN	259	G	D	Polymorphism	-
Q96M02	CJ090_HUMAN	57	M	I	Polymorphism	-
Q96M02	CJ090_HUMAN	262	D	N	Polymorphism	-
Q96M02	CJ090_HUMAN	531	D	E	Polymorphism	-
Q96M02	CJ090_HUMAN	134	R	H	Polymorphism	-
Q96M11	HYLS1_HUMAN	31	C	R	Polymorphism	-
Q96M11	HYLS1_HUMAN	211	D	G	Disease	Hydrolethalus syndrome 1 (HLS1) [MIM:236680]
Q96M20	CNBD2_HUMAN	208	T	A	Polymorphism	-
Q96M20	CNBD2_HUMAN	375	P	S	Polymorphism	-
Q96M20	CNBD2_HUMAN	37	R	H	Polymorphism	-
Q96M29	TEKT5_HUMAN	59	A	T	Polymorphism	-
Q96M29	TEKT5_HUMAN	196	H	R	Polymorphism	-
Q96M29	TEKT5_HUMAN	315	Q	R	Polymorphism	-
Q96M29	TEKT5_HUMAN	239	M	T	Polymorphism	-
Q96M32	KAD7_HUMAN	102	R	Q	Polymorphism	-
Q96M32	KAD7_HUMAN	389	N	K	Polymorphism	-
Q96M32	KAD7_HUMAN	673	L	P	Disease	Spermatogenic failure 27 (SPGF27) [MIM:617965]
Q96M34	TEX55_HUMAN	447	S	L	Polymorphism	-
Q96M34	TEX55_HUMAN	193	Q	H	Polymorphism	-
Q96M34	TEX55_HUMAN	99	D	G	Polymorphism	-
Q96M34	TEX55_HUMAN	312	G	S	Polymorphism	-
Q96M34	TEX55_HUMAN	45	N	T	Polymorphism	-
Q96M34	TEX55_HUMAN	473	D	E	Polymorphism	-
Q96M53	TBATA_HUMAN	237	R	Q	Polymorphism	-
Q96M61	MAGBI_HUMAN	40	P	S	Polymorphism	-
Q96M63	CC114_HUMAN	468	P	L	Polymorphism	-
Q96M63	CC114_HUMAN	329	R	H	Polymorphism	-
Q96M66	YP010_HUMAN	171	R	S	Polymorphism	-
Q96M66	YP010_HUMAN	37	R	H	Polymorphism	-
Q96M69	LRGUK_HUMAN	661	A	V	Polymorphism	-
Q96M69	LRGUK_HUMAN	302	D	Y	Polymorphism	-
Q96M78	FEAS2_HUMAN	92	L	S	Polymorphism	-
Q96M83	CCDC7_HUMAN	1117	G	A	Polymorphism	-
Q96M83	CCDC7_HUMAN	449	K	T	Polymorphism	-
Q96M83	CCDC7_HUMAN	148	K	Q	Polymorphism	-
Q96M83	CCDC7_HUMAN	1267	M	T	Polymorphism	-
Q96M83	CCDC7_HUMAN	1364	V	I	Polymorphism	-
Q96M86	DNHD1_HUMAN	4666	I	T	Polymorphism	-
Q96M86	DNHD1_HUMAN	418	H	Y	Polymorphism	-
Q96M86	DNHD1_HUMAN	317	D	N	Polymorphism	-
Q96M86	DNHD1_HUMAN	560	Q	E	Polymorphism	-
Q96M86	DNHD1_HUMAN	403	F	L	Polymorphism	-
Q96M86	DNHD1_HUMAN	240	V	E	Polymorphism	-
Q96M86	DNHD1_HUMAN	1358	R	C	Polymorphism	-
Q96M86	DNHD1_HUMAN	1896	K	N	Polymorphism	-
Q96M86	DNHD1_HUMAN	279	Q	P	Polymorphism	-
Q96M86	DNHD1_HUMAN	2041	F	L	Polymorphism	-
Q96M86	DNHD1_HUMAN	3830	R	H	Polymorphism	-
Q96M89	CC138_HUMAN	115	R	K	Polymorphism	-
Q96M89	CC138_HUMAN	99	D	Y	Polymorphism	-
Q96M91	CFA53_HUMAN	231	R	C	Polymorphism	-
Q96M91	CFA53_HUMAN	294	E	K	Polymorphism	-
Q96M91	CFA53_HUMAN	158	R	G	Unclassified	Heterotaxy, visceral, 6, autosomal (HTX6) [MIM:614779]
Q96M95	CCD42_HUMAN	75	R	C	Polymorphism	-
Q96M95	CCD42_HUMAN	51	T	P	Polymorphism	-
Q96M95	CCD42_HUMAN	144	A	T	Polymorphism	-
Q96M96	FGD4_HUMAN	298	M	R	Disease	Charcot-Marie-Tooth disease 4H (CMT4H) [MIM:609311]
Q96M96	FGD4_HUMAN	298	M	T	Disease	Charcot-Marie-Tooth disease 4H (CMT4H) [MIM:609311]
Q96MA6	KAD8_HUMAN	5	I	T	Polymorphism	-
Q96MA6	KAD8_HUMAN	130	D	G	Polymorphism	-
Q96MC2	DRC1_HUMAN	633	V	F	Polymorphism	-
Q96MC2	DRC1_HUMAN	734	V	M	Polymorphism	-
Q96MC2	DRC1_HUMAN	357	K	E	Polymorphism	-
Q96MC2	DRC1_HUMAN	702	S	I	Polymorphism	-
Q96MC2	DRC1_HUMAN	399	W	R	Polymorphism	-
Q96MC9	CA147_HUMAN	233	P	S	Polymorphism	-
Q96MC9	CA147_HUMAN	259	T	M	Polymorphism	-
Q96MC9	CA147_HUMAN	213	G	A	Polymorphism	-
Q96MD2	CL066_HUMAN	139	M	I	Polymorphism	-
Q96MD2	CL066_HUMAN	443	A	S	Polymorphism	-
Q96ME1	FXL18_HUMAN	552	N	K	Polymorphism	-
Q96MF2	STAC3_HUMAN	284	W	S	Disease	Myopathy, congenital, Bailey-Bloch (MYPBB) [MIM:255995]
Q96MF6	CQ10A_HUMAN	79	P	H	Polymorphism	-
Q96MF6	CQ10A_HUMAN	231	P	S	Polymorphism	-
Q96MF7	NSE2_HUMAN	27	L	F	Unclassified	A breast cancer sample
Q96MF7	NSE2_HUMAN	66	V	A	Polymorphism	-
Q96MG2	JSPR1_HUMAN	150	G	A	Polymorphism	-
Q96MG2	JSPR1_HUMAN	233	R	Q	Polymorphism	-
Q96MG2	JSPR1_HUMAN	108	P	L	Polymorphism	-
Q96MG2	JSPR1_HUMAN	92	V	A	Polymorphism	-
Q96MG7	NSE3_HUMAN	264	L	F	Disease	Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) [MIM:617241]
Q96MG7	NSE3_HUMAN	209	P	L	Disease	Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) [MIM:617241]
Q96MG8	PCMD1_HUMAN	312	N	I	Polymorphism	-
Q96MH7	CE034_HUMAN	266	S	R	Unclassified	A breast cancer sample
Q96MH7	CE034_HUMAN	32	T	S	Polymorphism	-
Q96MI9	CBPC4_HUMAN	481	S	P	Polymorphism	-
Q96MI9	CBPC4_HUMAN	1036	C	S	Disease	Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523]
Q96MI9	CBPC4_HUMAN	1056	Q	R	Polymorphism	-
Q96MI9	CBPC4_HUMAN	463	P	L	Polymorphism	-
Q96MK2	RIPR3_HUMAN	566	C	S	Polymorphism	-
Q96MK2	RIPR3_HUMAN	580	L	P	Polymorphism	-
Q96MK3	FA20A_HUMAN	331	G	D	Disease	Amelogenesis imperfecta 1G (AI1G) [MIM:204690]
Q96MK3	FA20A_HUMAN	403	D	N	Disease	Amelogenesis imperfecta 1G (AI1G) [MIM:204690]
Q96MK3	FA20A_HUMAN	332	N	K	Polymorphism	-
Q96MK3	FA20A_HUMAN	530	L	S	Polymorphism	-
Q96MK3	FA20A_HUMAN	173	L	R	Disease	Amelogenesis imperfecta 1G (AI1G) [MIM:204690]
Q96MM6	HS12B_HUMAN	270	R	H	Polymorphism	-
Q96MM6	HS12B_HUMAN	23	V	L	Polymorphism	-
Q96MM7	H6ST2_HUMAN	127	K	N	Polymorphism	-
Q96MN2	NALP4_HUMAN	383	E	D	Polymorphism	-
Q96MN2	NALP4_HUMAN	774	L	M	Polymorphism	-
Q96MN2	NALP4_HUMAN	925	Q	L	Polymorphism	-
Q96MN2	NALP4_HUMAN	144	A	T	Polymorphism	-
Q96MN2	NALP4_HUMAN	708	R	H	Polymorphism	-
Q96MN2	NALP4_HUMAN	390	P	Q	Polymorphism	-
Q96MN9	ZN488_HUMAN	249	P	S	Polymorphism	-
Q96MN9	ZN488_HUMAN	72	A	V	Polymorphism	-
Q96MN9	ZN488_HUMAN	106	P	L	Polymorphism	-
Q96MP5	ZSWM3_HUMAN	291	R	W	Polymorphism	-
Q96MP5	ZSWM3_HUMAN	259	V	A	Polymorphism	-
Q96MP8	KCTD7_HUMAN	94	R	W	Disease	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]
Q96MP8	KCTD7_HUMAN	184	R	C	Disease	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]
Q96MP8	KCTD7_HUMAN	108	L	M	Disease	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]
Q96MP8	KCTD7_HUMAN	84	R	W	Disease	-
Q96MP8	KCTD7_HUMAN	273	N	I	Disease	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]
Q96MP8	KCTD7_HUMAN	115	D	Y	Unclassified	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]
Q96MR6	CFA57_HUMAN	523	D	Y	Unclassified	-
Q96MR6	CFA57_HUMAN	183	A	S	Polymorphism	-
Q96MR6	CFA57_HUMAN	345	C	S	Polymorphism	-
Q96MR6	CFA57_HUMAN	241	N	D	Polymorphism	-
Q96MR9	ZN560_HUMAN	186	G	E	Unclassified	A colorectal cancer sample
Q96MR9	ZN560_HUMAN	630	Y	C	Polymorphism	-
Q96MS0	ROBO3_HUMAN	423	V	M	Polymorphism	-
Q96MS0	ROBO3_HUMAN	703	R	P	Disease	Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
Q96MS0	ROBO3_HUMAN	416	R	H	Polymorphism	-
Q96MS0	ROBO3_HUMAN	1369	Q	R	Polymorphism	-
Q96MS0	ROBO3_HUMAN	5	L	P	Disease	Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
Q96MS0	ROBO3_HUMAN	705	S	P	Disease	Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
Q96MS0	ROBO3_HUMAN	319	E	K	Disease	Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
Q96MS0	ROBO3_HUMAN	66	I	L	Disease	Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
Q96MS0	ROBO3_HUMAN	868	P	L	Polymorphism	-
Q96MS0	ROBO3_HUMAN	361	G	E	Disease	Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
Q96MT3	PRIC1_HUMAN	682	R	C	Polymorphism	-
Q96MT3	PRIC1_HUMAN	81	N	H	Polymorphism	-
Q96MT3	PRIC1_HUMAN	771	D	N	Polymorphism	-
Q96MT3	PRIC1_HUMAN	104	R	Q	Disease	Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]
Q96MT3	PRIC1_HUMAN	739	S	F	Polymorphism	-
Q96MT3	PRIC1_HUMAN	144	R	H	Disease	Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]
Q96MT3	PRIC1_HUMAN	121	V	I	Polymorphism	-
Q96MT3	PRIC1_HUMAN	275	T	M	Polymorphism	-
Q96MT3	PRIC1_HUMAN	124	A	T	Polymorphism	-
Q96MT3	PRIC1_HUMAN	799	S	C	Unclassified	-
Q96MT3	PRIC1_HUMAN	746	P	S	Polymorphism	-
Q96MT3	PRIC1_HUMAN	69	I	T	Polymorphism	-
Q96MT3	PRIC1_HUMAN	472	Y	H	Disease	Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]
Q96MT4	CF195_HUMAN	43	P	S	Polymorphism	-
Q96MT4	CF195_HUMAN	2	I	F	Polymorphism	-
Q96MT7	CFA44_HUMAN	284	K	N	Polymorphism	-
Q96MT7	CFA44_HUMAN	53	K	E	Polymorphism	-
Q96MT8	CEP63_HUMAN	651	S	L	Polymorphism	-
Q96MU5	CQ077_HUMAN	47	R	S	Polymorphism	-
Q96MU6	ZN778_HUMAN	683	N	D	Polymorphism	-
Q96MU7	YTDC1_HUMAN	183	H	R	Polymorphism	-
Q96MU8	KREM1_HUMAN	207	F	S	Disease	Ectodermal dysplasia 13, hair/tooth type (ECTD13) [MIM:617392]
Q96MW5	COG8_HUMAN	517	L	R	Polymorphism	-
Q96MX3	ZNF48_HUMAN	65	A	V	Polymorphism	-
Q96MX3	ZNF48_HUMAN	21	Q	R	Polymorphism	-
Q96MX3	ZNF48_HUMAN	224	I	V	Polymorphism	-
Q96MX6	WDR92_HUMAN	241	M	V	Polymorphism	-
Q96MY7	F161B_HUMAN	622	L	P	Polymorphism	-
Q96MY7	F161B_HUMAN	487	K	R	Polymorphism	-
Q96MY7	F161B_HUMAN	11	G	A	Polymorphism	-
Q96MZ0	GD1L1_HUMAN	141	R	W	Unclassified	A colorectal cancer sample
Q96MZ4	F218A_HUMAN	54	H	R	Polymorphism	-
Q96N06	SPT33_HUMAN	45	S	L	Polymorphism	-
Q96N11	CG026_HUMAN	245	R	C	Polymorphism	-
Q96N16	JKIP1_HUMAN	375	A	V	Unclassified	A colorectal cancer sample
Q96N16	JKIP1_HUMAN	251	K	R	Polymorphism	-
Q96N20	ZN75A_HUMAN	84	V	A	Polymorphism	-
Q96N20	ZN75A_HUMAN	228	Q	E	Unclassified	A breast cancer sample
Q96N22	ZN681_HUMAN	548	H	Q	Polymorphism	-
Q96N22	ZN681_HUMAN	367	R	K	Polymorphism	-
Q96N22	ZN681_HUMAN	295	L	S	Polymorphism	-
Q96N22	ZN681_HUMAN	84	D	H	Polymorphism	-
Q96N23	CFA54_HUMAN	558	T	A	Polymorphism	-
Q96N23	CFA54_HUMAN	562	L	F	Polymorphism	-
Q96N23	CFA54_HUMAN	11	P	S	Polymorphism	-
Q96N38	ZN714_HUMAN	472	I	V	Polymorphism	-
Q96N38	ZN714_HUMAN	331	K	R	Polymorphism	-
Q96N38	ZN714_HUMAN	473	I	V	Polymorphism	-
Q96N58	ZN578_HUMAN	238	E	K	Polymorphism	-
Q96N66	MBOA7_HUMAN	415	V	L	Polymorphism	-
Q96N66	MBOA7_HUMAN	261	F	L	Polymorphism	-
Q96N67	DOCK7_HUMAN	824	I	T	Polymorphism	-
Q96N76	HUTU_HUMAN	311	S	T	Polymorphism	-
Q96N76	HUTU_HUMAN	450	R	C	Disease	Urocanase deficiency (UROCD) [MIM:276880]
Q96N76	HUTU_HUMAN	70	L	P	Disease	Urocanase deficiency (UROCD) [MIM:276880]
Q96N76	HUTU_HUMAN	188	R	W	Polymorphism	-
Q96N76	HUTU_HUMAN	429	R	C	Polymorphism	-
Q96N77	ZN641_HUMAN	231	S	C	Polymorphism	-
Q96N77	ZN641_HUMAN	363	Q	P	Polymorphism	-
Q96N87	S6A18_HUMAN	79	G	S	Polymorphism	-
Q96N87	S6A18_HUMAN	4	A	D	Polymorphism	-
Q96N87	S6A18_HUMAN	496	G	R	Polymorphism	-
Q96N87	S6A18_HUMAN	12	C	S	Polymorphism	-
Q96N87	S6A18_HUMAN	478	P	L	Polymorphism	-
Q96N87	S6A18_HUMAN	32	T	I	Polymorphism	-
Q96N95	ZN396_HUMAN	211	H	L	Polymorphism	-
Q96N96	SPT13_HUMAN	89	R	W	Unclassified	-
Q96N96	SPT13_HUMAN	20	R	W	Polymorphism	-
Q96NA2	RILP_HUMAN	81	A	T	Polymorphism	-
Q96NA2	RILP_HUMAN	281	R	Q	Polymorphism	-
Q96NA8	TSNA1_HUMAN	55	R	P	Polymorphism	-
Q96NA8	TSNA1_HUMAN	268	V	I	Polymorphism	-
Q96NA8	TSNA1_HUMAN	18	F	L	Polymorphism	-
Q96NA8	TSNA1_HUMAN	118	T	A	Polymorphism	-
Q96NB3	ZN830_HUMAN	99	H	Q	Polymorphism	-
Q96NB3	ZN830_HUMAN	93	S	P	Polymorphism	-
Q96NB3	ZN830_HUMAN	154	S	T	Polymorphism	-
Q96NB3	ZN830_HUMAN	16	I	V	Polymorphism	-
Q96NB3	ZN830_HUMAN	135	F	L	Polymorphism	-
Q96ND0	F210A_HUMAN	140	V	E	Unclassified	A breast cancer sample
Q96ND0	F210A_HUMAN	167	E	K	Polymorphism	-
Q96ND0	F210A_HUMAN	39	Y	N	Polymorphism	-
Q96ND0	F210A_HUMAN	82	R	H	Unclassified	A breast cancer sample
Q96ND8	ZN583_HUMAN	324	F	I	Polymorphism	-
Q96NF6	CH049_HUMAN	26	R	G	Polymorphism	-
Q96NF6	CH049_HUMAN	95	R	G	Polymorphism	-
Q96NF6	CH049_HUMAN	81	I	V	Polymorphism	-
Q96NG3	TTC25_HUMAN	18	A	G	Polymorphism	-
Q96NG3	TTC25_HUMAN	4	P	S	Polymorphism	-
Q96NG8	ZN582_HUMAN	65	W	G	Unclassified	-
Q96NG8	ZN582_HUMAN	69	R	T	Polymorphism	-
Q96NG8	ZN582_HUMAN	345	G	E	Unclassified	-
Q96NH3	BROMI_HUMAN	375	T	K	Polymorphism	-
Q96NH3	BROMI_HUMAN	599	I	V	Polymorphism	-
Q96NH3	BROMI_HUMAN	280	I	V	Polymorphism	-
Q96NH3	BROMI_HUMAN	82	R	Q	Polymorphism	-
Q96NJ3	ZN285_HUMAN	208	N	S	Polymorphism	-
Q96NJ3	ZN285_HUMAN	536	R	G	Polymorphism	-
Q96NJ5	KLH32_HUMAN	146	D	G	Polymorphism	-
Q96NJ5	KLH32_HUMAN	129	N	S	Polymorphism	-
Q96NJ5	KLH32_HUMAN	5	R	C	Polymorphism	-
Q96NL0	RUN3B_HUMAN	47	L	M	Polymorphism	-
Q96NL0	RUN3B_HUMAN	440	L	P	Polymorphism	-
Q96NL0	RUN3B_HUMAN	206	E	G	Polymorphism	-
Q96NL3	ZN599_HUMAN	178	L	F	Polymorphism	-
Q96NL6	SCLT1_HUMAN	441	S	C	Polymorphism	-
Q96NL8	CH037_HUMAN	19	P	A	Polymorphism	-
Q96NL8	CH037_HUMAN	177	R	W	Disease	Cone-rod dystrophy 16 (CORD16) [MIM:614500]
Q96NL8	CH037_HUMAN	182	Q	R	Disease	Retinitis pigmentosa 64 (RP64) [MIM:614500]
Q96NL8	CH037_HUMAN	177	R	W	Disease	Bardet-Biedl syndrome 21 (BBS21) [MIM:617406]
Q96NM4	TOX2_HUMAN	223	V	A	Polymorphism	-
Q96NN9	AIFM3_HUMAN	508	S	T	Polymorphism	-
Q96NR2	MHAS1_HUMAN	121	I	V	Polymorphism	-
Q96NR3	PTHD1_HUMAN	82	R	H	Polymorphism	-
Q96NR3	PTHD1_HUMAN	251	P	L	Polymorphism	-
Q96NR3	PTHD1_HUMAN	51	S	N	Unclassified	-
Q96NR3	PTHD1_HUMAN	359	H	R	Polymorphism	-
Q96NR3	PTHD1_HUMAN	882	V	A	Polymorphism	-
Q96NR3	PTHD1_HUMAN	470	A	D	Polymorphism	-
Q96NR3	PTHD1_HUMAN	173	I	V	Polymorphism	-
Q96NR3	PTHD1_HUMAN	479	E	G	Polymorphism	-
Q96NR3	PTHD1_HUMAN	73	L	F	Polymorphism	-
Q96NR3	PTHD1_HUMAN	195	V	I	Polymorphism	-
Q96NR3	PTHD1_HUMAN	497	N	K	Polymorphism	-
Q96NR8	RDH12_HUMAN	155	T	I	Polymorphism	-
Q96NR8	RDH12_HUMAN	65	R	Q	Polymorphism	-
Q96NR8	RDH12_HUMAN	193	R	C	Unclassified	-
Q96NR8	RDH12_HUMAN	126	A	V	Disease	Retinitis pigmentosa 53 (RP53) [MIM:612712]
Q96NR8	RDH12_HUMAN	206	A	D	Unclassified	-
Q96NR8	RDH12_HUMAN	145	G	E	Polymorphism	-
Q96NR8	RDH12_HUMAN	76	G	R	Disease	Retinitis pigmentosa 53 (RP53) [MIM:612712]
Q96NR8	RDH12_HUMAN	234	R	H	Unclassified	-
Q96NR8	RDH12_HUMAN	55	T	M	Polymorphism	-
Q96NR8	RDH12_HUMAN	125	N	K	Unclassified	-
Q96NR8	RDH12_HUMAN	226	Y	C	Disease	Leber congenital amaurosis 13 (LCA13) [MIM:612712]
Q96NR8	RDH12_HUMAN	49	T	M	Disease	Leber congenital amaurosis 13 (LCA13) [MIM:612712]
Q96NR8	RDH12_HUMAN	274	L	P	Unclassified	-
Q96NR8	RDH12_HUMAN	175	S	P	Disease	Leber congenital amaurosis 13 (LCA13) [MIM:612712]
Q96NR8	RDH12_HUMAN	230	P	L	Unclassified	-
Q96NR8	RDH12_HUMAN	239	R	W	Polymorphism	-
Q96NR8	RDH12_HUMAN	230	P	A	Disease	Leber congenital amaurosis 13 (LCA13) [MIM:612712]
Q96NR8	RDH12_HUMAN	146	V	D	Unclassified	Retinitis pigmentosa 53 (RP53) [MIM:612712]
Q96NR8	RDH12_HUMAN	101	D	N	Polymorphism	-
Q96NR8	RDH12_HUMAN	206	A	V	Unclassified	-
Q96NR8	RDH12_HUMAN	51	I	N	Disease	Leber congenital amaurosis 13 (LCA13) [MIM:612712]
Q96NR8	RDH12_HUMAN	79	A	V	Polymorphism	-
Q96NR8	RDH12_HUMAN	99	L	I	Disease	Leber congenital amaurosis 13 (LCA13) [MIM:612712]
Q96NR8	RDH12_HUMAN	47	A	T	Polymorphism	-
Q96NR8	RDH12_HUMAN	161	R	Q	Polymorphism	-
Q96NR8	RDH12_HUMAN	151	H	N	Disease	Leber congenital amaurosis 13 (LCA13) [MIM:612712]
Q96NR8	RDH12_HUMAN	151	H	D	Disease	Leber congenital amaurosis 13 (LCA13) [MIM:612712]
Q96NR8	RDH12_HUMAN	285	C	Y	Polymorphism	-
Q96NS5	ASB16_HUMAN	240	T	I	Polymorphism	-
Q96NS5	ASB16_HUMAN	173	T	P	Unclassified	-
Q96NT0	CC115_HUMAN	31	L	S	Disease	Congenital disorder of glycosylation 2O (CDG2O) [MIM:616828]
Q96NT0	CC115_HUMAN	11	D	Y	Disease	Congenital disorder of glycosylation 2O (CDG2O) [MIM:616828]
Q96NT1	NP1L5_HUMAN	154	E	Q	Polymorphism	-
Q96NT5	PCFT_HUMAN	113	R	C	Disease	Hereditary folate malabsorption (HFM) [MIM:229050]
Q96NT5	PCFT_HUMAN	335	A	D	Disease	Hereditary folate malabsorption (HFM) [MIM:229050]
Q96NT5	PCFT_HUMAN	156	D	Y	Disease	Hereditary folate malabsorption (HFM) [MIM:229050]
Q96NT5	PCFT_HUMAN	425	P	R	Disease	Hereditary folate malabsorption (HFM) [MIM:229050]
Q96NT5	PCFT_HUMAN	295	T	A	Polymorphism	-
Q96NT5	PCFT_HUMAN	376	R	Q	Disease	Hereditary folate malabsorption (HFM) [MIM:229050]
Q96NT5	PCFT_HUMAN	318	S	R	Disease	Hereditary folate malabsorption (HFM) [MIM:229050]
Q96NT5	PCFT_HUMAN	113	R	S	Disease	Hereditary folate malabsorption (HFM) [MIM:229050]
Q96NT5	PCFT_HUMAN	338	G	R	Disease	Hereditary folate malabsorption (HFM) [MIM:229050]
Q96NT5	PCFT_HUMAN	147	G	R	Disease	Hereditary folate malabsorption (HFM) [MIM:229050]
Q96NT5	PCFT_HUMAN	376	R	W	Disease	Hereditary folate malabsorption (HFM) [MIM:229050]
Q96NU7	HUTI_HUMAN	3	S	G	Polymorphism	-
Q96NU7	HUTI_HUMAN	360	P	H	Polymorphism	-
Q96NW4	ANR27_HUMAN	657	S	G	Polymorphism	-
Q96NW4	ANR27_HUMAN	761	P	R	Polymorphism	-
Q96NW7	LRRC7_HUMAN	1054	H	Y	Polymorphism	-
Q96NW7	LRRC7_HUMAN	235	L	M	Unclassified	A breast cancer sample
Q96NX5	KCC1G_HUMAN	443	A	T	Unclassified	A breast infiltrating ductal carcinoma sample
Q96NX5	KCC1G_HUMAN	329	V	I	Polymorphism	-
Q96NX5	KCC1G_HUMAN	259	E	Q	Polymorphism	-
Q96NY7	CLIC6_HUMAN	632	D	G	Polymorphism	-
Q96NY8	NECT4_HUMAN	53	F	L	Polymorphism	-
Q96NY8	NECT4_HUMAN	185	T	M	Disease	Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) [MIM:613573]
Q96NY9	MUS81_HUMAN	37	R	H	Polymorphism	-
Q96NY9	MUS81_HUMAN	180	R	P	Polymorphism	-
Q96NY9	MUS81_HUMAN	189	L	F	Polymorphism	-
Q96NY9	MUS81_HUMAN	115	S	F	Polymorphism	-
Q96NY9	MUS81_HUMAN	350	R	W	Polymorphism	-
Q96NY9	MUS81_HUMAN	481	Q	H	Polymorphism	-
Q96NZ1	FOXN4_HUMAN	137	P	L	Polymorphism	-
Q96NZ9	PRAP1_HUMAN	81	G	S	Polymorphism	-
Q96NZ9	PRAP1_HUMAN	69	K	R	Polymorphism	-
Q96NZ9	PRAP1_HUMAN	54	E	G	Polymorphism	-
Q96NZ9	PRAP1_HUMAN	101	H	R	Polymorphism	-
Q96P09	BIRC8_HUMAN	196	H	Y	Polymorphism	-
Q96P09	BIRC8_HUMAN	225	A	T	Polymorphism	-
Q96P09	BIRC8_HUMAN	225	A	V	Polymorphism	-
Q96P09	BIRC8_HUMAN	156	A	T	Polymorphism	-
Q96P09	BIRC8_HUMAN	165	L	S	Polymorphism	-
Q96P11	NSUN5_HUMAN	183	P	S	Polymorphism	-
Q96P15	SPB11_HUMAN	293	I	T	Polymorphism	-
Q96P15	SPB11_HUMAN	181	I	T	Polymorphism	-
Q96P15	SPB11_HUMAN	188	R	W	Polymorphism	-
Q96P15	SPB11_HUMAN	354	I	T	Polymorphism	-
Q96P15	SPB11_HUMAN	303	P	S	Polymorphism	-
Q96P15	SPB11_HUMAN	51	A	E	Polymorphism	-
Q96P15	SPB11_HUMAN	148	M	T	Polymorphism	-
Q96P15	SPB11_HUMAN	181	I	A	Polymorphism	-
Q96P16	RPR1A_HUMAN	21	Q	H	Unclassified	A breast cancer sample
Q96P20	NLRP3_HUMAN	525	F	C	Disease	Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]
Q96P20	NLRP3_HUMAN	441	A	T	Disease	Muckle-Wells syndrome (MWS) [MIM:191900]
Q96P20	NLRP3_HUMAN	262	R	P	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	861	Y	C	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	308	Q	K	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	356	E	D	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	262	R	L	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	266	L	H	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	920	R	Q	Unclassified	Deafness, autosomal dominant, 34, with or without inflammation (DFNA34) [MIM:617772]
Q96P20	NLRP3_HUMAN	705	Q	K	Polymorphism	-
Q96P20	NLRP3_HUMAN	438	T	N	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	174	I	T	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	305	D	G	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	307	L	P	Disease	Muckle-Wells syndrome (MWS) [MIM:191900]
Q96P20	NLRP3_HUMAN	664	M	T	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	360	H	R	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	200	V	M	Disease	Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]
Q96P20	NLRP3_HUMAN	525	F	L	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	307	L	P	Disease	Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]
Q96P20	NLRP3_HUMAN	262	R	W	Disease	Muckle-Wells syndrome (MWS) [MIM:191900]
Q96P20	NLRP3_HUMAN	490	R	K	Disease	Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]
Q96P20	NLRP3_HUMAN	629	E	G	Disease	Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]
Q96P20	NLRP3_HUMAN	571	G	R	Disease	Muckle-Wells syndrome (MWS) [MIM:191900]
Q96P20	NLRP3_HUMAN	634	L	F	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	305	D	N	Disease	Muckle-Wells syndrome (MWS) [MIM:191900]
Q96P20	NLRP3_HUMAN	355	L	P	Disease	Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]
Q96P20	NLRP3_HUMAN	311	F	S	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	572	Y	C	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	407	T	P	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	441	A	V	Disease	Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]
Q96P20	NLRP3_HUMAN	262	R	W	Disease	Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]
Q96P20	NLRP3_HUMAN	305	D	N	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	575	F	S	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	350	T	M	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	200	V	M	Disease	Muckle-Wells syndrome (MWS) [MIM:191900]
Q96P20	NLRP3_HUMAN	438	T	I	Disease	Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q96P20	NLRP3_HUMAN	350	T	M	Disease	Muckle-Wells syndrome (MWS) [MIM:191900]
Q96P20	NLRP3_HUMAN	21	D	H	Disease	Keratoendothelitis fugax hereditaria (KEFH) [MIM:148200]
Q96P20	NLRP3_HUMAN	354	A	V	Disease	Muckle-Wells syndrome (MWS) [MIM:191900]
Q96P31	FCRL3_HUMAN	445	H	N	Unclassified	A breast cancer sample
Q96P31	FCRL3_HUMAN	307	L	F	Polymorphism	-
Q96P31	FCRL3_HUMAN	660	P	L	Polymorphism	-
Q96P31	FCRL3_HUMAN	721	N	S	Polymorphism	-
Q96P31	FCRL3_HUMAN	28	N	D	Polymorphism	-
Q96P44	COLA1_HUMAN	747	A	D	Polymorphism	-
Q96P44	COLA1_HUMAN	827	P	A	Polymorphism	-
Q96P44	COLA1_HUMAN	277	L	P	Polymorphism	-
Q96P44	COLA1_HUMAN	821	L	P	Polymorphism	-
Q96P44	COLA1_HUMAN	560	G	S	Polymorphism	-
Q96P44	COLA1_HUMAN	495	I	T	Polymorphism	-
Q96P44	COLA1_HUMAN	343	T	M	Polymorphism	-
Q96P48	ARAP1_HUMAN	358	R	Q	Polymorphism	-
Q96P48	ARAP1_HUMAN	1047	Q	E	Polymorphism	-
Q96P56	CTSR2_HUMAN	8	E	G	Polymorphism	-
Q96P56	CTSR2_HUMAN	57	V	I	Polymorphism	-
Q96P63	SPB12_HUMAN	289	N	T	Polymorphism	-
Q96P63	SPB12_HUMAN	227	K	E	Polymorphism	-
Q96P63	SPB12_HUMAN	338	N	S	Polymorphism	-
Q96P64	AGAP4_HUMAN	661	K	E	Polymorphism	-
Q96P65	QRFPR_HUMAN	149	H	Q	Polymorphism	-
Q96P65	QRFPR_HUMAN	344	L	S	Polymorphism	-
Q96P65	QRFPR_HUMAN	61	F	V	Polymorphism	-
Q96P66	GP101_HUMAN	376	L	P	Polymorphism	-
Q96P66	GP101_HUMAN	124	V	L	Polymorphism	-
Q96P66	GP101_HUMAN	308	E	D	Disease	Pituitary adenoma 2, growth hormone-secreting (PITA2) [MIM:300943]
Q96P69	GPR78_HUMAN	342	R	H	Polymorphism	-
Q96P69	GPR78_HUMAN	330	A	T	Polymorphism	-
Q96P69	GPR78_HUMAN	201	R	S	Polymorphism	-
Q96P71	NECA3_HUMAN	254	P	L	Polymorphism	-
Q96PB1	CASD1_HUMAN	386	R	S	Polymorphism	-
Q96PC2	IP6K3_HUMAN	60	R	W	Polymorphism	-
Q96PC2	IP6K3_HUMAN	378	Y	S	Polymorphism	-
Q96PC2	IP6K3_HUMAN	308	A	V	Polymorphism	-
Q96PC2	IP6K3_HUMAN	312	V	I	Polymorphism	-
Q96PC3	AP1S3_HUMAN	124	Q	E	Polymorphism	-
Q96PC3	AP1S3_HUMAN	32	T	I	Polymorphism	-
Q96PC3	AP1S3_HUMAN	33	R	W	Disease	Psoriasis 15, pustular (PSORS15) [MIM:616106]
Q96PC3	AP1S3_HUMAN	79	L	V	Polymorphism	-
Q96PC3	AP1S3_HUMAN	17	Q	K	Polymorphism	-
Q96PC3	AP1S3_HUMAN	83	I	T	Polymorphism	-
Q96PC3	AP1S3_HUMAN	4	F	C	Disease	Psoriasis 15, pustular (PSORS15) [MIM:616106]
Q96PC3	AP1S3_HUMAN	22	T	A	Polymorphism	-
Q96PC5	MIA2_HUMAN	968	E	Q	Polymorphism	-
Q96PC5	MIA2_HUMAN	813	K	N	Polymorphism	-
Q96PC5	MIA2_HUMAN	858	K	E	Polymorphism	-
Q96PC5	MIA2_HUMAN	437	D	H	Unclassified	A breast cancer sample
Q96PC5	MIA2_HUMAN	1307	I	V	Polymorphism	-
Q96PC5	MIA2_HUMAN	1346	G	R	Polymorphism	-
Q96PC5	MIA2_HUMAN	983	N	S	Polymorphism	-
Q96PD2	DCBD2_HUMAN	144	I	M	Polymorphism	-
Q96PD2	DCBD2_HUMAN	723	D	N	Polymorphism	-
Q96PD4	IL17F_HUMAN	95	S	L	Disease	Candidiasis, familial, 6 (CANDF6) [MIM:613956]
Q96PD4	IL17F_HUMAN	161	H	R	Polymorphism	-
Q96PD4	IL17F_HUMAN	126	E	G	Polymorphism	-
Q96PD4	IL17F_HUMAN	155	V	I	Polymorphism	-
Q96PD5	PGRP2_HUMAN	46	T	A	Polymorphism	-
Q96PD5	PGRP2_HUMAN	257	T	N	Polymorphism	-
Q96PD5	PGRP2_HUMAN	270	M	K	Polymorphism	-
Q96PD5	PGRP2_HUMAN	476	R	W	Polymorphism	-
Q96PD5	PGRP2_HUMAN	394	R	Q	Polymorphism	-
Q96PD5	PGRP2_HUMAN	99	R	Q	Polymorphism	-
Q96PD6	MOGT1_HUMAN	163	S	P	Polymorphism	-
Q96PD6	MOGT1_HUMAN	13	A	T	Polymorphism	-
Q96PD7	DGAT2_HUMAN	361	M	I	Polymorphism	-
Q96PD7	DGAT2_HUMAN	317	R	G	Polymorphism	-
Q96PD7	DGAT2_HUMAN	223	Y	H	Unclassified	-
Q96PE1	AGRA2_HUMAN	29	P	L	Unclassified	-
Q96PE1	AGRA2_HUMAN	375	T	K	Polymorphism	-
Q96PE2	ARHGH_HUMAN	1465	A	D	Polymorphism	-
Q96PE2	ARHGH_HUMAN	450	G	E	Polymorphism	-
Q96PE3	INP4A_HUMAN	604	T	A	Polymorphism	-
Q96PE6	ZIM3_HUMAN	69	L	M	Polymorphism	-
Q96PE6	ZIM3_HUMAN	157	N	D	Polymorphism	-
Q96PE6	ZIM3_HUMAN	7	R	K	Polymorphism	-
Q96PE6	ZIM3_HUMAN	379	I	V	Polymorphism	-
Q96PE6	ZIM3_HUMAN	28	E	K	Polymorphism	-
Q96PE6	ZIM3_HUMAN	205	G	R	Polymorphism	-
Q96PE7	MCEE_HUMAN	104	R	L	Polymorphism	-
Q96PE7	MCEE_HUMAN	76	A	V	Polymorphism	-
Q96PF2	TSSK2_HUMAN	245	C	S	Polymorphism	-
Q96PF2	TSSK2_HUMAN	244	E	K	Polymorphism	-
Q96PF2	TSSK2_HUMAN	197	Y	C	Polymorphism	-
Q96PF2	TSSK2_HUMAN	61	M	V	Polymorphism	-
Q96PF2	TSSK2_HUMAN	27	K	R	Polymorphism	-
Q96PF2	TSSK2_HUMAN	280	T	M	Polymorphism	-
Q96PG2	M4A10_HUMAN	219	P	L	Polymorphism	-
Q96PH1	NOX5_HUMAN	576	R	H	Polymorphism	-
Q96PH1	NOX5_HUMAN	759	R	G	Polymorphism	-
Q96PH6	DB118_HUMAN	56	I	V	Polymorphism	-
Q96PI1	SPRR4_HUMAN	45	P	S	Polymorphism	-
Q96PJ5	FCRL4_HUMAN	60	R	Q	Polymorphism	-
Q96PJ5	FCRL4_HUMAN	457	K	R	Polymorphism	-
Q96PJ5	FCRL4_HUMAN	493	Y	C	Polymorphism	-
Q96PJ5	FCRL4_HUMAN	255	N	S	Polymorphism	-
Q96PL1	SG3A2_HUMAN	33	K	N	Unclassified	A breast cancer sample
Q96PL5	ERMAP_HUMAN	35	G	S	Polymorphism	-
Q96PL5	ERMAP_HUMAN	259	C	R	Polymorphism	-
Q96PL5	ERMAP_HUMAN	26	H	Y	Polymorphism	-
Q96PL5	ERMAP_HUMAN	81	R	Q	Polymorphism	-
Q96PL5	ERMAP_HUMAN	60	P	A	Polymorphism	-
Q96PL5	ERMAP_HUMAN	4	A	V	Polymorphism	-
Q96PL5	ERMAP_HUMAN	47	E	K	Polymorphism	-
Q96PL5	ERMAP_HUMAN	57	G	R	Polymorphism	-
Q96PL5	ERMAP_HUMAN	263	G	E	Polymorphism	-
Q96PN6	ADCYA_HUMAN	697	I	V	Polymorphism	-
Q96PN6	ADCYA_HUMAN	234	T	M	Polymorphism	-
Q96PN7	TREF1_HUMAN	1187	D	N	Polymorphism	-
Q96PN7	TREF1_HUMAN	766	V	I	Polymorphism	-
Q96PN7	TREF1_HUMAN	1019	N	T	Polymorphism	-
Q96PN7	TREF1_HUMAN	834	C	S	Polymorphism	-
Q96PN7	TREF1_HUMAN	431	T	A	Polymorphism	-
Q96PN8	TSSK3_HUMAN	71	I	V	Polymorphism	-
Q96PN8	TSSK3_HUMAN	140	A	T	Polymorphism	-
Q96PN8	TSSK3_HUMAN	235	S	L	Polymorphism	-
Q96PP8	GBP5_HUMAN	35	T	M	Polymorphism	-
Q96PP8	GBP5_HUMAN	4	E	Q	Polymorphism	-
Q96PP9	GBP4_HUMAN	541	Y	N	Polymorphism	-
Q96PP9	GBP4_HUMAN	549	L	M	Polymorphism	-
Q96PP9	GBP4_HUMAN	125	K	E	Polymorphism	-
Q96PP9	GBP4_HUMAN	545	M	L	Polymorphism	-
Q96PP9	GBP4_HUMAN	545	M	I	Polymorphism	-
Q96PP9	GBP4_HUMAN	551	E	G	Polymorphism	-
Q96PP9	GBP4_HUMAN	379	I	V	Polymorphism	-
Q96PP9	GBP4_HUMAN	551	E	K	Polymorphism	-
Q96PP9	GBP4_HUMAN	546	E	K	Polymorphism	-
Q96PP9	GBP4_HUMAN	542	M	I	Polymorphism	-
Q96PQ0	SORC2_HUMAN	345	G	R	Polymorphism	-
Q96PQ0	SORC2_HUMAN	745	T	I	Polymorphism	-
Q96PQ0	SORC2_HUMAN	695	T	M	Polymorphism	-
Q96PQ1	SIG12_HUMAN	82	A	V	Polymorphism	-
Q96PQ1	SIG12_HUMAN	218	G	R	Polymorphism	-
Q96PQ1	SIG12_HUMAN	81	P	H	Polymorphism	-
Q96PQ1	SIG12_HUMAN	398	H	Y	Polymorphism	-
Q96PQ1	SIG12_HUMAN	217	H	Q	Polymorphism	-
Q96PQ1	SIG12_HUMAN	586	Y	C	Polymorphism	-
Q96PQ1	SIG12_HUMAN	478	T	M	Polymorphism	-
Q96PQ1	SIG12_HUMAN	494	Y	S	Polymorphism	-
Q96PQ1	SIG12_HUMAN	81	P	T	Polymorphism	-
Q96PQ1	SIG12_HUMAN	546	P	Q	Polymorphism	-
Q96PQ6	ZN317_HUMAN	19	Q	H	Polymorphism	-
Q96PQ7	KLHL5_HUMAN	508	G	S	Polymorphism	-
Q96PQ7	KLHL5_HUMAN	10	I	L	Polymorphism	-
Q96PS8	AQP10_HUMAN	15	R	Q	Polymorphism	-
Q96PS8	AQP10_HUMAN	123	H	Y	Polymorphism	-
Q96PT3	DUX5_HUMAN	60	A	V	Polymorphism	-
Q96PT3	DUX5_HUMAN	180	S	A	Polymorphism	-
Q96PT3	DUX5_HUMAN	118	P	L	Polymorphism	-
Q96PT3	DUX5_HUMAN	180	S	T	Polymorphism	-
Q96PT3	DUX5_HUMAN	119	Q	P	Polymorphism	-
Q96PU4	UHRF2_HUMAN	87	I	N	Unclassified	A colorectal cancer sample
Q96PU5	NED4L_HUMAN	497	S	R	Polymorphism	-
Q96PU5	NED4L_HUMAN	694	Q	H	Disease	Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201]
Q96PU5	NED4L_HUMAN	893	E	K	Disease	Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201]
Q96PU5	NED4L_HUMAN	355	P	L	Polymorphism	-
Q96PU5	NED4L_HUMAN	679	Y	C	Disease	Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201]
Q96PU5	NED4L_HUMAN	897	R	Q	Disease	Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201]
Q96PU8	QKI_HUMAN	336	R	Q	Unclassified	A colorectal cancer sample
Q96PV0	SYGP1_HUMAN	362	W	R	Disease	Mental retardation, autosomal dominant 5 (MRD5) [MIM:612621]
Q96PV0	SYGP1_HUMAN	562	P	L	Disease	Mental retardation, autosomal dominant 5 (MRD5) [MIM:612621]
Q96PV0	SYGP1_HUMAN	170	R	Q	Disease	-
Q96PV0	SYGP1_HUMAN	749	R	Q	Polymorphism	-
Q96PV0	SYGP1_HUMAN	195	A	P	Disease	-
Q96PV0	SYGP1_HUMAN	790	T	N	Polymorphism	-
Q96PV0	SYGP1_HUMAN	991	G	R	Polymorphism	-
Q96PV0	SYGP1_HUMAN	1310	T	M	Polymorphism	-
Q96PV0	SYGP1_HUMAN	1283	P	L	Polymorphism	-
Q96PV0	SYGP1_HUMAN	1115	I	T	Polymorphism	-
Q96PV0	SYGP1_HUMAN	201	D	E	Polymorphism	-
Q96PV4	PNMA5_HUMAN	349	R	W	Polymorphism	-
Q96PV4	PNMA5_HUMAN	107	N	H	Polymorphism	-
Q96PV6	LENG8_HUMAN	557	I	V	Polymorphism	-
Q96PV6	LENG8_HUMAN	279	R	P	Polymorphism	-
Q96PV7	F193B_HUMAN	816	S	P	Polymorphism	-
Q96PX1	RN157_HUMAN	208	G	R	Polymorphism	-
Q96PX1	RN157_HUMAN	596	E	V	Polymorphism	-
Q96PX1	RN157_HUMAN	80	P	H	Polymorphism	-
Q96PX8	SLIK1_HUMAN	584	R	K	Unclassified	Trichotillomania (TTM) [MIM:613229]
Q96PX8	SLIK1_HUMAN	418	T	S	Disease	-
Q96PX8	SLIK1_HUMAN	552	L	M	Polymorphism	-
Q96PX8	SLIK1_HUMAN	593	S	G	Unclassified	Trichotillomania (TTM) [MIM:613229]
Q96PX8	SLIK1_HUMAN	400	N	I	Disease	-
Q96PX9	PKH4B_HUMAN	72	A	T	Polymorphism	-
Q96PX9	PKH4B_HUMAN	220	R	H	Polymorphism	-
Q96PX9	PKH4B_HUMAN	669	T	P	Polymorphism	-
Q96PX9	PKH4B_HUMAN	37	V	A	Polymorphism	-
Q96PX9	PKH4B_HUMAN	1146	R	G	Polymorphism	-
Q96PX9	PKH4B_HUMAN	1076	R	Q	Polymorphism	-
Q96PX9	PKH4B_HUMAN	149	G	S	Polymorphism	-
Q96PX9	PKH4B_HUMAN	660	A	V	Polymorphism	-
Q96PY5	FMNL2_HUMAN	352	Y	C	Polymorphism	-
Q96PY5	FMNL2_HUMAN	504	M	T	Polymorphism	-
Q96PY6	NEK1_HUMAN	1180	D	N	Polymorphism	-
Q96PY6	NEK1_HUMAN	463	A	V	Polymorphism	-
Q96PY6	NEK1_HUMAN	598	A	T	Polymorphism	-
Q96PY6	NEK1_HUMAN	717	N	K	Polymorphism	-
Q96PY6	NEK1_HUMAN	25	E	K	Unclassified	A lung large cell carcinoma sample
Q96PY6	NEK1_HUMAN	724	E	G	Polymorphism	-
Q96PY6	NEK1_HUMAN	883	Q	E	Polymorphism	-
Q96PY6	NEK1_HUMAN	261	R	H	Disease	Amyotrophic lateral sclerosis 24 (ALS24) [MIM:617892]
Q96PY6	NEK1_HUMAN	253	L	S	Disease	Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520]
Q96PY6	NEK1_HUMAN	745	K	N	Polymorphism	-
Q96PY6	NEK1_HUMAN	355	R	G	Polymorphism	-
Q96PY6	NEK1_HUMAN	10	I	F	Polymorphism	-
Q96PY6	NEK1_HUMAN	294	A	P	Unclassified	A lung adenocarcinoma sample
Q96PY6	NEK1_HUMAN	145	G	R	Disease	Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520]
Q96PY6	NEK1_HUMAN	76	L	V	Polymorphism	-
Q96PZ2	F111A_HUMAN	528	D	G	Disease	Gracile bone dysplasia (GCLEB) [MIM:602361]
Q96PZ2	F111A_HUMAN	338	T	A	Disease	Gracile bone dysplasia (GCLEB) [MIM:602361]
Q96PZ2	F111A_HUMAN	569	R	H	Disease	Kenny-Caffey syndrome 2 (KCS2) [MIM:127000]
Q96PZ2	F111A_HUMAN	511	Y	H	Disease	Kenny-Caffey syndrome 2 (KCS2) [MIM:127000]
Q96PZ2	F111A_HUMAN	527	P	T	Disease	Gracile bone dysplasia (GCLEB) [MIM:602361]
Q96PZ7	CSMD1_HUMAN	3311	G	W	Polymorphism	-
Q96PZ7	CSMD1_HUMAN	3478	S	N	Polymorphism	-
Q96PZ7	CSMD1_HUMAN	2260	P	A	Polymorphism	-
Q96PZ7	CSMD1_HUMAN	3369	Q	H	Polymorphism	-
Q96PZ7	CSMD1_HUMAN	3539	Y	C	Polymorphism	-
Q96PZ7	CSMD1_HUMAN	2040	M	I	Polymorphism	-
Q96Q04	LMTK3_HUMAN	900	V	L	Polymorphism	-
Q96Q04	LMTK3_HUMAN	929	L	V	Polymorphism	-
Q96Q06	PLIN4_HUMAN	1124	A	T	Polymorphism	-
Q96Q06	PLIN4_HUMAN	860	K	N	Polymorphism	-
Q96Q06	PLIN4_HUMAN	124	V	A	Polymorphism	-
Q96Q06	PLIN4_HUMAN	421	T	A	Polymorphism	-
Q96Q06	PLIN4_HUMAN	826	A	V	Polymorphism	-
Q96Q06	PLIN4_HUMAN	659	S	G	Polymorphism	-
Q96Q06	PLIN4_HUMAN	761	K	N	Polymorphism	-
Q96Q06	PLIN4_HUMAN	826	A	G	Polymorphism	-
Q96Q06	PLIN4_HUMAN	802	M	T	Polymorphism	-
Q96Q06	PLIN4_HUMAN	826	A	E	Polymorphism	-
Q96Q06	PLIN4_HUMAN	1134	R	C	Polymorphism	-
Q96Q11	TRNT1_HUMAN	326	I	T	Disease	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084]
Q96Q11	TRNT1_HUMAN	23	P	L	Polymorphism	-
Q96Q11	TRNT1_HUMAN	416	K	E	Disease	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084]
Q96Q11	TRNT1_HUMAN	166	L	S	Disease	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084]
Q96Q11	TRNT1_HUMAN	190	R	I	Disease	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084]
Q96Q11	TRNT1_HUMAN	158	M	V	Disease	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084]
Q96Q11	TRNT1_HUMAN	223	I	T	Disease	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084]
Q96Q11	TRNT1_HUMAN	154	T	I	Disease	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084]
Q96Q15	SMG1_HUMAN	753	S	C	Polymorphism	-
Q96Q15	SMG1_HUMAN	167	A	V	Polymorphism	-
Q96Q15	SMG1_HUMAN	812	R	C	Polymorphism	-
Q96Q15	SMG1_HUMAN	3583	K	Q	Unclassified	A breast infiltrating ductal carcinoma sample
Q96Q15	SMG1_HUMAN	809	S	C	Polymorphism	-
Q96Q15	SMG1_HUMAN	588	A	S	Polymorphism	-
Q96Q15	SMG1_HUMAN	546	H	R	Polymorphism	-
Q96Q15	SMG1_HUMAN	126	R	C	Polymorphism	-
Q96Q15	SMG1_HUMAN	151	N	Y	Polymorphism	-
Q96Q15	SMG1_HUMAN	1103	N	H	Polymorphism	-
Q96Q15	SMG1_HUMAN	35	A	T	Polymorphism	-
Q96Q15	SMG1_HUMAN	144	S	C	Polymorphism	-
Q96Q15	SMG1_HUMAN	160	D	N	Polymorphism	-
Q96Q15	SMG1_HUMAN	1292	Q	P	Polymorphism	-
Q96Q15	SMG1_HUMAN	612	I	K	Polymorphism	-
Q96Q15	SMG1_HUMAN	829	V	I	Polymorphism	-
Q96Q15	SMG1_HUMAN	969	N	S	Polymorphism	-
Q96Q15	SMG1_HUMAN	1358	S	P	Polymorphism	-
Q96Q15	SMG1_HUMAN	952	A	G	Polymorphism	-
Q96Q15	SMG1_HUMAN	832	N	D	Polymorphism	-
Q96Q15	SMG1_HUMAN	2899	P	A	Polymorphism	-
Q96Q15	SMG1_HUMAN	1332	I	V	Polymorphism	-
Q96Q15	SMG1_HUMAN	2171	S	C	Unclassified	A breast pleomorphic lobular carcinoma sample
Q96Q15	SMG1_HUMAN	1016	F	L	Polymorphism	-
Q96Q15	SMG1_HUMAN	320	D	G	Polymorphism	-
Q96Q15	SMG1_HUMAN	3239	I	T	Unclassified	A breast infiltrating ductal carcinoma sample
Q96Q15	SMG1_HUMAN	2730	Q	E	Polymorphism	-
Q96Q15	SMG1_HUMAN	1418	R	T	Polymorphism	-
Q96Q15	SMG1_HUMAN	2258	G	S	Polymorphism	-
Q96Q15	SMG1_HUMAN	2345	M	K	Polymorphism	-
Q96Q15	SMG1_HUMAN	2889	G	S	Polymorphism	-
Q96Q15	SMG1_HUMAN	1029	R	Q	Polymorphism	-
Q96Q15	SMG1_HUMAN	465	G	S	Polymorphism	-
Q96Q15	SMG1_HUMAN	1072	T	S	Polymorphism	-
Q96Q15	SMG1_HUMAN	1275	P	R	Polymorphism	-
Q96Q27	ASB2_HUMAN	160	P	S	Polymorphism	-
Q96Q35	FACC1_HUMAN	43	V	L	Polymorphism	-
Q96Q40	CDK15_HUMAN	64	R	G	Polymorphism	-
Q96Q40	CDK15_HUMAN	276	E	D	Unclassified	A breast infiltrating ductal carcinoma sample
Q96Q40	CDK15_HUMAN	93	K	E	Unclassified	A renal clear cell carcinoma sample
Q96Q40	CDK15_HUMAN	255	T	I	Polymorphism	-
Q96Q40	CDK15_HUMAN	127	Q	R	Polymorphism	-
Q96Q42	ALS2_HUMAN	1406	R	K	Polymorphism	-
Q96Q42	ALS2_HUMAN	159	E	K	Polymorphism	-
Q96Q42	ALS2_HUMAN	368	V	M	Polymorphism	-
Q96Q42	ALS2_HUMAN	1255	S	F	Polymorphism	-
Q96Q42	ALS2_HUMAN	102	H	R	Polymorphism	-
Q96Q42	ALS2_HUMAN	94	I	V	Polymorphism	-
Q96Q45	TM237_HUMAN	155	D	A	Unclassified	-
Q96Q77	CIB3_HUMAN	139	G	E	Polymorphism	-
Q96Q80	DERL3_HUMAN	211	A	V	Polymorphism	-
Q96Q80	DERL3_HUMAN	149	F	L	Polymorphism	-
Q96Q83	ALKB3_HUMAN	228	D	E	Polymorphism	-
Q96Q83	ALKB3_HUMAN	164	R	C	Polymorphism	-
Q96Q89	KI20B_HUMAN	1148	A	V	Polymorphism	-
Q96Q89	KI20B_HUMAN	1127	E	Q	Polymorphism	-
Q96Q89	KI20B_HUMAN	1219	N	S	Polymorphism	-
Q96Q89	KI20B_HUMAN	1011	D	E	Polymorphism	-
Q96Q89	KI20B_HUMAN	1789	I	V	Polymorphism	-
Q96Q89	KI20B_HUMAN	1589	F	Y	Polymorphism	-
Q96Q89	KI20B_HUMAN	756	N	I	Polymorphism	-
Q96Q89	KI20B_HUMAN	50	A	G	Polymorphism	-
Q96Q89	KI20B_HUMAN	789	H	L	Polymorphism	-
Q96Q89	KI20B_HUMAN	490	E	D	Polymorphism	-
Q96Q89	KI20B_HUMAN	1177	C	R	Polymorphism	-
Q96QA5	GSDMA_HUMAN	128	V	L	Polymorphism	-
Q96QA5	GSDMA_HUMAN	130	E	K	Polymorphism	-
Q96QA5	GSDMA_HUMAN	18	R	Q	Polymorphism	-
Q96QA5	GSDMA_HUMAN	314	T	N	Polymorphism	-
Q96QB1	RHG07_HUMAN	712	N	S	Polymorphism	-
Q96QB1	RHG07_HUMAN	255	N	D	Polymorphism	-
Q96QB1	RHG07_HUMAN	260	T	I	Polymorphism	-
Q96QB1	RHG07_HUMAN	1199	E	V	Polymorphism	-
Q96QB1	RHG07_HUMAN	254	Q	H	Polymorphism	-
Q96QB1	RHG07_HUMAN	320	Q	H	Polymorphism	-
Q96QB1	RHG07_HUMAN	959	T	A	Polymorphism	-
Q96QB1	RHG07_HUMAN	1025	V	A	Polymorphism	-
Q96QB1	RHG07_HUMAN	791	V	M	Polymorphism	-
Q96QB1	RHG07_HUMAN	81	L	V	Polymorphism	-
Q96QB1	RHG07_HUMAN	1209	S	C	Polymorphism	-
Q96QB1	RHG07_HUMAN	998	H	Q	Polymorphism	-
Q96QB1	RHG07_HUMAN	27	R	C	Polymorphism	-
Q96QC0	PP1RA_HUMAN	173	R	P	Polymorphism	-
Q96QD5	DEPD7_HUMAN	464	T	I	Polymorphism	-
Q96QD5	DEPD7_HUMAN	192	A	T	Polymorphism	-
Q96QD8	S38A2_HUMAN	48	N	K	Polymorphism	-
Q96QD9	UIF_HUMAN	87	R	H	Polymorphism	-
Q96QE3	ATAD5_HUMAN	215	D	N	Polymorphism	-
Q96QE3	ATAD5_HUMAN	35	T	S	Polymorphism	-
Q96QE3	ATAD5_HUMAN	699	N	H	Polymorphism	-
Q96QE3	ATAD5_HUMAN	87	P	S	Polymorphism	-
Q96QE3	ATAD5_HUMAN	135	E	G	Polymorphism	-
Q96QE3	ATAD5_HUMAN	1419	Y	H	Polymorphism	-
Q96QE3	ATAD5_HUMAN	249	R	K	Polymorphism	-
Q96QE5	TEFM_HUMAN	348	I	V	Polymorphism	-
Q96QF7	ACRC_HUMAN	471	R	H	Polymorphism	-
Q96QF7	ACRC_HUMAN	662	T	I	Polymorphism	-
Q96QH2	PRAM_HUMAN	135	G	E	Polymorphism	-
Q96QH2	PRAM_HUMAN	76	V	F	Polymorphism	-
Q96QH2	PRAM_HUMAN	73	P	Q	Polymorphism	-
Q96QH2	PRAM_HUMAN	57	K	Q	Polymorphism	-
Q96QK1	VPS35_HUMAN	241	I	M	Polymorphism	-
Q96QK1	VPS35_HUMAN	57	M	I	Polymorphism	-
Q96QK1	VPS35_HUMAN	524	R	W	Polymorphism	-
Q96QK1	VPS35_HUMAN	51	G	S	Polymorphism	-
Q96QK1	VPS35_HUMAN	316	P	S	Polymorphism	-
Q96QK1	VPS35_HUMAN	82	T	R	Polymorphism	-
Q96QK1	VPS35_HUMAN	620	D	N	Disease	Parkinson disease 17 (PARK17) [MIM:614203]
Q96QK1	VPS35_HUMAN	774	L	M	Polymorphism	-
Q96QK1	VPS35_HUMAN	737	A	V	Polymorphism	-
Q96QK1	VPS35_HUMAN	469	Q	P	Unclassified	-
Q96QK1	VPS35_HUMAN	602	V	D	Polymorphism	-
Q96QP1	ALPK1_HUMAN	292	T	M	Polymorphism	-
Q96QP1	ALPK1_HUMAN	916	N	D	Polymorphism	-
Q96QP1	ALPK1_HUMAN	870	G	S	Polymorphism	-
Q96QP1	ALPK1_HUMAN	935	P	L	Polymorphism	-
Q96QP1	ALPK1_HUMAN	873	R	I	Polymorphism	-
Q96QP1	ALPK1_HUMAN	861	M	T	Polymorphism	-
Q96QP1	ALPK1_HUMAN	320	L	M	Polymorphism	-
Q96QP1	ALPK1_HUMAN	383	K	E	Polymorphism	-
Q96QP1	ALPK1_HUMAN	910	E	D	Polymorphism	-
Q96QP1	ALPK1_HUMAN	681	G	D	Polymorphism	-
Q96QP1	ALPK1_HUMAN	660	P	L	Polymorphism	-
Q96QP1	ALPK1_HUMAN	565	G	D	Polymorphism	-
Q96QP1	ALPK1_HUMAN	1084	R	Q	Polymorphism	-
Q96QP1	ALPK1_HUMAN	1117	L	P	Polymorphism	-
Q96QP1	ALPK1_HUMAN	732	M	I	Polymorphism	-
Q96QP1	ALPK1_HUMAN	1160	A	G	Polymorphism	-
Q96QP1	ALPK1_HUMAN	642	H	R	Polymorphism	-
Q96QP1	ALPK1_HUMAN	67	Q	R	Polymorphism	-
Q96QP1	ALPK1_HUMAN	1008	H	P	Polymorphism	-
Q96QP1	ALPK1_HUMAN	339	K	E	Unclassified	An ovarian mucinous carcinoma sample
Q96QP1	ALPK1_HUMAN	175	N	D	Polymorphism	-
Q96QS3	ARX_HUMAN	353	P	L	Disease	Epileptic encephalopathy, early infantile, 1 (EIEE1) [MIM:308350]
Q96QS3	ARX_HUMAN	332	R	P	Disease	Lissencephaly, X-linked 2 (LISX2) [MIM:300215]
Q96QS3	ARX_HUMAN	333	T	N	Disease	Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) [MIM:300004]
Q96QS3	ARX_HUMAN	343	L	Q	Disease	Lissencephaly, X-linked 2 (LISX2) [MIM:300215]
Q96QS3	ARX_HUMAN	332	R	H	Disease	Lissencephaly, X-linked 2 (LISX2) [MIM:300215]
Q96QS3	ARX_HUMAN	286	G	S	Disease	Mental retardation, X-linked, ARX-related (MRXARX) [MIM:300419]
Q96QS3	ARX_HUMAN	33	L	P	Disease	Mental retardation, X-linked, ARX-related (MRXARX) [MIM:300419]
Q96QS3	ARX_HUMAN	521	A	T	Disease	Lissencephaly, X-linked 2 (LISX2) [MIM:300215]
Q96QS3	ARX_HUMAN	353	P	R	Disease	Lissencephaly, X-linked 2 (LISX2) [MIM:300215]
Q96QS6	KPSH2_HUMAN	116	S	I	Unclassified	A lung adenocarcinoma sample
Q96QS6	KPSH2_HUMAN	176	A	S	Polymorphism	-
Q96QS6	KPSH2_HUMAN	225	T	A	Polymorphism	-
Q96QS6	KPSH2_HUMAN	211	G	R	Polymorphism	-
Q96QS6	KPSH2_HUMAN	212	K	I	Unclassified	A lung adenocarcinoma sample
Q96QS6	KPSH2_HUMAN	132	Q	R	Polymorphism	-
Q96QS6	KPSH2_HUMAN	266	S	R	Polymorphism	-
Q96QS6	KPSH2_HUMAN	336	I	V	Polymorphism	-
Q96QS6	KPSH2_HUMAN	72	G	D	Polymorphism	-
Q96QS6	KPSH2_HUMAN	148	R	Q	Polymorphism	-
Q96QS6	KPSH2_HUMAN	114	R	Q	Polymorphism	-
Q96QS6	KPSH2_HUMAN	79	R	K	Polymorphism	-
Q96QT4	TRPM7_HUMAN	1254	A	V	Polymorphism	-
Q96QT4	TRPM7_HUMAN	949	F	Y	Polymorphism	-
Q96QT4	TRPM7_HUMAN	830	M	V	Unclassified	A gastric adenocarcinoma sample
Q96QT4	TRPM7_HUMAN	1064	Q	R	Polymorphism	-
Q96QT4	TRPM7_HUMAN	1211	I	T	Polymorphism	-
Q96QT4	TRPM7_HUMAN	1482	T	I	Polymorphism	-
Q96QT4	TRPM7_HUMAN	1145	I	V	Polymorphism	-
Q96QT4	TRPM7_HUMAN	406	S	C	Unclassified	An ovarian serous carcinoma sample
Q96QT4	TRPM7_HUMAN	68	G	V	Polymorphism	-
Q96QT4	TRPM7_HUMAN	720	T	S	Unclassified	A breast infiltrating ductal carcinoma sample
Q96QT4	TRPM7_HUMAN	1306	D	E	Polymorphism	-
Q96QT4	TRPM7_HUMAN	459	I	T	Polymorphism	-
Q96QT4	TRPM7_HUMAN	1033	A	G	Polymorphism	-
Q96QT4	TRPM7_HUMAN	574	K	N	Polymorphism	-
Q96QT4	TRPM7_HUMAN	1444	R	K	Polymorphism	-
Q96QU1	PCD15_HUMAN	19	S	A	Polymorphism	-
Q96QU1	PCD15_HUMAN	435	D	A	Polymorphism	-
Q96QU1	PCD15_HUMAN	380	G	S	Polymorphism	-
Q96QU1	PCD15_HUMAN	178	D	G	Disease	Usher syndrome 1D/F (USH1DF) [MIM:601067]
Q96QU1	PCD15_HUMAN	134	R	Q	Disease	Usher syndrome 1F (USH1F) [MIM:602083]
Q96QU1	PCD15_HUMAN	174	N	S	Polymorphism	-
Q96QU1	PCD15_HUMAN	1342	Q	K	Disease	Usher syndrome 1F (USH1F) [MIM:602083]
Q96QU1	PCD15_HUMAN	262	G	D	Disease	Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]
Q96QU1	PCD15_HUMAN	134	R	G	Disease	Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]
Q96QU1	PCD15_HUMAN	929	R	Q	Polymorphism	-
Q96QU1	PCD15_HUMAN	1273	R	S	Polymorphism	-
Q96QU6	1A1L1_HUMAN	221	G	E	Unclassified	A breast cancer sample
Q96QU6	1A1L1_HUMAN	421	P	L	Polymorphism	-
Q96QU6	1A1L1_HUMAN	134	D	E	Polymorphism	-
Q96QU6	1A1L1_HUMAN	59	D	N	Polymorphism	-
Q96QU6	1A1L1_HUMAN	393	S	L	Unclassified	A breast cancer sample
Q96QU8	XPO6_HUMAN	1029	V	L	Polymorphism	-
Q96QV1	HHIP_HUMAN	341	V	I	Polymorphism	-
Q96QZ0	PANX3_HUMAN	208	T	A	Polymorphism	-
Q96QZ0	PANX3_HUMAN	95	G	R	Polymorphism	-
Q96R08	OR5BC_HUMAN	141	C	Y	Polymorphism	-
Q96R08	OR5BC_HUMAN	141	C	R	Polymorphism	-
Q96R09	OR5B2_HUMAN	208	V	A	Polymorphism	-
Q96R09	OR5B2_HUMAN	200	M	T	Polymorphism	-
Q96R28	OR2M2_HUMAN	237	A	T	Polymorphism	-
Q96R28	OR2M2_HUMAN	87	S	C	Polymorphism	-
Q96R28	OR2M2_HUMAN	220	R	G	Polymorphism	-
Q96R28	OR2M2_HUMAN	235	C	R	Polymorphism	-
Q96R30	OR2V2_HUMAN	34	A	V	Polymorphism	-
Q96R30	OR2V2_HUMAN	221	H	R	Polymorphism	-
Q96R47	O2A14_HUMAN	164	S	R	Polymorphism	-
Q96R47	O2A14_HUMAN	133	S	I	Polymorphism	-
Q96R48	OR2A5_HUMAN	126	I	V	Polymorphism	-
Q96R48	OR2A5_HUMAN	255	A	T	Polymorphism	-
Q96R48	OR2A5_HUMAN	202	A	S	Polymorphism	-
Q96R67	OR4CC_HUMAN	283	V	L	Polymorphism	-
Q96RA2	OR7D2_HUMAN	197	T	M	Polymorphism	-
Q96RB7	OR5MB_HUMAN	171	S	N	Polymorphism	-
Q96RB7	OR5MB_HUMAN	280	V	L	Polymorphism	-
Q96RC9	OR8B4_HUMAN	22	E	G	Polymorphism	-
Q96RC9	OR8B4_HUMAN	178	C	R	Polymorphism	-
Q96RC9	OR8B4_HUMAN	131	Y	H	Polymorphism	-
Q96RC9	OR8B4_HUMAN	140	C	F	Polymorphism	-
Q96RD0	OR8B2_HUMAN	20	H	R	Polymorphism	-
Q96RD0	OR8B2_HUMAN	27	L	F	Polymorphism	-
Q96RD0	OR8B2_HUMAN	164	L	F	Polymorphism	-
Q96RD0	OR8B2_HUMAN	273	S	F	Polymorphism	-
Q96RD1	OR6C1_HUMAN	246	V	I	Polymorphism	-
Q96RD1	OR6C1_HUMAN	130	C	Y	Polymorphism	-
Q96RD1	OR6C1_HUMAN	222	T	I	Polymorphism	-
Q96RD1	OR6C1_HUMAN	165	H	D	Polymorphism	-
Q96RD2	O52B2_HUMAN	105	F	Y	Polymorphism	-
Q96RD3	O52E6_HUMAN	133	W	R	Polymorphism	-
Q96RD3	O52E6_HUMAN	170	F	Y	Polymorphism	-
Q96RD3	O52E6_HUMAN	95	S	P	Polymorphism	-
Q96RD3	O52E6_HUMAN	159	I	V	Polymorphism	-
Q96RD3	O52E6_HUMAN	39	I	V	Polymorphism	-
Q96RD3	O52E6_HUMAN	199	M	R	Polymorphism	-
Q96RD3	O52E6_HUMAN	64	C	F	Polymorphism	-
Q96RD3	O52E6_HUMAN	48	F	L	Polymorphism	-
Q96RD6	PANX2_HUMAN	147	S	F	Unclassified	A breast cancer sample
Q96RD7	PANX1_HUMAN	272	I	V	Polymorphism	-
Q96RD7	PANX1_HUMAN	5	Q	H	Polymorphism	-
Q96RD9	FCRL5_HUMAN	427	N	K	Polymorphism	-
Q96RD9	FCRL5_HUMAN	269	V	I	Polymorphism	-
Q96RD9	FCRL5_HUMAN	687	S	C	Unclassified	A breast cancer sample
Q96RD9	FCRL5_HUMAN	418	G	D	Polymorphism	-
Q96RD9	FCRL5_HUMAN	466	V	I	Polymorphism	-
Q96RD9	FCRL5_HUMAN	457	Q	R	Polymorphism	-
Q96RD9	FCRL5_HUMAN	267	Y	H	Polymorphism	-
Q96RE7	NACC1_HUMAN	298	R	W	Disease	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM) [MIM:617393]
Q96RE9	ZN300_HUMAN	336	Q	H	Polymorphism	-
Q96RF0	SNX18_HUMAN	593	K	T	Polymorphism	-
Q96RF0	SNX18_HUMAN	571	E	D	Polymorphism	-
Q96RG2	PASK_HUMAN	1266	F	C	Polymorphism	-
Q96RG2	PASK_HUMAN	514	L	S	Polymorphism	-
Q96RG2	PASK_HUMAN	684	P	R	Polymorphism	-
Q96RG2	PASK_HUMAN	1210	V	M	Polymorphism	-
Q96RG2	PASK_HUMAN	796	E	K	Polymorphism	-
Q96RG2	PASK_HUMAN	11	E	K	Unclassified	A metastatic melanoma sample
Q96RG2	PASK_HUMAN	725	G	D	Polymorphism	-
Q96RG2	PASK_HUMAN	250	V	I	Polymorphism	-
Q96RG2	PASK_HUMAN	426	Q	R	Polymorphism	-
Q96RG2	PASK_HUMAN	937	R	H	Polymorphism	-
Q96RG2	PASK_HUMAN	844	P	Q	Polymorphism	-
Q96RG2	PASK_HUMAN	1301	P	S	Polymorphism	-
Q96RG2	PASK_HUMAN	512	T	A	Polymorphism	-
Q96RG2	PASK_HUMAN	694	V	M	Polymorphism	-
Q96RI0	PAR4_HUMAN	310	P	L	Polymorphism	-
Q96RI0	PAR4_HUMAN	120	A	T	Polymorphism	-
Q96RI0	PAR4_HUMAN	215	R	Q	Polymorphism	-
Q96RI0	PAR4_HUMAN	296	F	V	Polymorphism	-
Q96RI8	TAAR6_HUMAN	173	Y	C	Polymorphism	-
Q96RI8	TAAR6_HUMAN	265	V	I	Polymorphism	-
Q96RI8	TAAR6_HUMAN	165	G	S	Polymorphism	-
Q96RI8	TAAR6_HUMAN	291	C	Y	Polymorphism	-
Q96RI8	TAAR6_HUMAN	228	A	V	Polymorphism	-
Q96RI8	TAAR6_HUMAN	99	Y	C	Polymorphism	-
Q96RI8	TAAR6_HUMAN	326	V	I	Polymorphism	-
Q96RI8	TAAR6_HUMAN	37	I	T	Polymorphism	-
Q96RI9	TAAR9_HUMAN	278	A	T	Polymorphism	-
Q96RJ0	TAAR1_HUMAN	252	T	A	Polymorphism	-
Q96RJ0	TAAR1_HUMAN	23	R	C	Polymorphism	-
Q96RJ3	TR13C_HUMAN	159	H	Y	Polymorphism	-
Q96RJ3	TR13C_HUMAN	64	G	V	Polymorphism	-
Q96RJ6	FER3L_HUMAN	36	G	R	Unclassified	A colorectal cancer sample
Q96RK0	CIC_HUMAN	652	A	T	Unclassified	A breast cancer sample
Q96RK0	CIC_HUMAN	104	E	K	Unclassified	A breast cancer sample
Q96RK0	CIC_HUMAN	492	R	W	Unclassified	Mental retardation, autosomal dominant 45 (MRD45) [MIM:617600]
Q96RK0	CIC_HUMAN	982	S	G	Polymorphism	-
Q96RK4	BBS4_HUMAN	295	R	P	Disease	Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
Q96RK4	BBS4_HUMAN	488	T	K	Polymorphism	-
Q96RK4	BBS4_HUMAN	393	A	V	Polymorphism	-
Q96RK4	BBS4_HUMAN	472	M	V	Disease	Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
Q96RK4	BBS4_HUMAN	46	K	R	Polymorphism	-
Q96RK4	BBS4_HUMAN	327	L	P	Disease	Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
Q96RK4	BBS4_HUMAN	412	E	D	Polymorphism	-
Q96RK4	BBS4_HUMAN	364	A	E	Disease	Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
Q96RK4	BBS4_HUMAN	368	D	G	Disease	Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
Q96RK4	BBS4_HUMAN	61	E	K	Polymorphism	-
Q96RK4	BBS4_HUMAN	165	N	H	Disease	Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
Q96RK4	BBS4_HUMAN	354	I	T	Polymorphism	-
Q96RK4	BBS4_HUMAN	351	L	R	Disease	Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
Q96RK4	BBS4_HUMAN	503	P	L	Disease	Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
Q96RK4	BBS4_HUMAN	268	E	K	Polymorphism	-
Q96RK4	BBS4_HUMAN	457	S	I	Disease	Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
Q96RL1	UIMC1_HUMAN	15	R	W	Polymorphism	-
Q96RL1	UIMC1_HUMAN	353	M	T	Polymorphism	-
Q96RL1	UIMC1_HUMAN	435	P	L	Polymorphism	-
Q96RL1	UIMC1_HUMAN	596	G	E	Polymorphism	-
Q96RL1	UIMC1_HUMAN	511	C	R	Polymorphism	-
Q96RL7	VP13A_HUMAN	3172	P	L	Polymorphism	-
Q96RL7	VP13A_HUMAN	898	V	A	Polymorphism	-
Q96RL7	VP13A_HUMAN	565	F	L	Polymorphism	-
Q96RL7	VP13A_HUMAN	1452	S	P	Disease	Choreoacanthocytosis (CHAC) [MIM:200150]
Q96RL7	VP13A_HUMAN	2486	I	T	Polymorphism	-
Q96RL7	VP13A_HUMAN	161	R	H	Unclassified	A colorectal cancer sample
Q96RL7	VP13A_HUMAN	90	I	K	Disease	Choreoacanthocytosis (CHAC) [MIM:200150]
Q96RL7	VP13A_HUMAN	1095	A	P	Disease	Choreoacanthocytosis (CHAC) [MIM:200150]
Q96RL7	VP13A_HUMAN	2721	Y	C	Disease	Choreoacanthocytosis (CHAC) [MIM:200150]
Q96RL7	VP13A_HUMAN	1490	R	K	Polymorphism	-
Q96RL7	VP13A_HUMAN	2460	W	R	Disease	Choreoacanthocytosis (CHAC) [MIM:200150]
Q96RL7	VP13A_HUMAN	1587	Y	C	Polymorphism	-
Q96RL7	VP13A_HUMAN	1973	V	I	Polymorphism	-
Q96RN1	S26A8_HUMAN	230	S	N	Polymorphism	-
Q96RN1	S26A8_HUMAN	954	R	C	Disease	Spermatogenic failure 3 (SPGF3) [MIM:606766]
Q96RN1	S26A8_HUMAN	812	E	K	Disease	Spermatogenic failure 3 (SPGF3) [MIM:606766]
Q96RN1	S26A8_HUMAN	73	V	M	Polymorphism	-
Q96RN1	S26A8_HUMAN	148	I	V	Polymorphism	-
Q96RN1	S26A8_HUMAN	639	I	V	Polymorphism	-
Q96RN1	S26A8_HUMAN	87	R	Q	Disease	Spermatogenic failure 3 (SPGF3) [MIM:606766]
Q96RP7	G3ST4_HUMAN	353	R	Q	Polymorphism	-
Q96RP7	G3ST4_HUMAN	467	A	V	Polymorphism	-
Q96RP8	KCNA7_HUMAN	189	P	R	Polymorphism	-
Q96RP8	KCNA7_HUMAN	418	M	T	Polymorphism	-
Q96RP9	EFGM_HUMAN	496	M	R	Disease	Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060]
Q96RP9	EFGM_HUMAN	57	S	Y	Disease	Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060]
Q96RP9	EFGM_HUMAN	215	V	I	Polymorphism	-
Q96RP9	EFGM_HUMAN	174	N	S	Disease	Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060]
Q96RP9	EFGM_HUMAN	250	R	W	Disease	Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060]
Q96RQ3	MCCA_HUMAN	437	L	P	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	125	I	M	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	65	M	L	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	232	R	W	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	379	G	D	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	385	R	S	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	380	H	P	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	79	Y	C	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	123	Q	H	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	291	A	V	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	366	E	K	Unclassified	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	134	E	K	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	120	S	F	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	187	S	P	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	209	G	V	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	535	S	F	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	325	M	R	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	444	R	H	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	289	A	V	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	434	I	M	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	383	E	K	Unclassified	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	560	N	T	Polymorphism	-
Q96RQ3	MCCA_HUMAN	130	G	S	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	268	A	D	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	276	C	R	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	632	P	S	Polymorphism	-
Q96RQ3	MCCA_HUMAN	464	H	P	Polymorphism	-
Q96RQ3	MCCA_HUMAN	379	G	S	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	46	G	E	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	532	D	H	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	56	N	K	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	439	V	M	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	288	E	G	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	281	R	Q	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	160	M	R	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	372	Q	P	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	180	G	V	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ3	MCCA_HUMAN	460	I	M	Disease	3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
Q96RQ9	OXLA_HUMAN	501	A	S	Polymorphism	-
Q96RR1	PEO1_HUMAN	363	W	L	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	357	R	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	460	A	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	391	R	H	Disease	Perrault syndrome 5 (PRLTS5) [MIM:616138]
Q96RR1	PEO1_HUMAN	475	A	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	441	W	G	Disease	Perrault syndrome 5 (PRLTS5) [MIM:616138]
Q96RR1	PEO1_HUMAN	479	E	K	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	585	N	S	Disease	Perrault syndrome 5 (PRLTS5) [MIM:616138]
Q96RR1	PEO1_HUMAN	367	I	T	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	370	F	C	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	507	V	I	Disease	Perrault syndrome 5 (PRLTS5) [MIM:616138]
Q96RR1	PEO1_HUMAN	359	A	T	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	303	R	Q	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	474	W	S	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	318	A	T	Disease	Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245]
Q96RR1	PEO1_HUMAN	354	R	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	457	T	I	Disease	Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245]
Q96RR1	PEO1_HUMAN	381	L	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	319	K	E	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	303	R	W	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	360	L	G	Disease	Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245]
Q96RR1	PEO1_HUMAN	478	F	I	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	426	S	N	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	369	S	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	456	L	V	Disease	Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245]
Q96RR1	PEO1_HUMAN	370	F	L	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	458	Q	H	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	508	Y	C	Disease	Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245]
Q96RR1	PEO1_HUMAN	427	E	G	Polymorphism	-
Q96RR1	PEO1_HUMAN	334	R	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	315	W	S	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	634	N	K	Polymorphism	-
Q96RR1	PEO1_HUMAN	475	A	D	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	474	W	C	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	369	S	Y	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	362	A	P	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	319	K	T	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	348	G	R	Polymorphism	-
Q96RR1	PEO1_HUMAN	374	R	Q	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	334	R	Q	Polymorphism	-
Q96RR1	PEO1_HUMAN	368	V	I	Polymorphism	-
Q96RR1	PEO1_HUMAN	315	W	L	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR1	PEO1_HUMAN	335	P	L	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
Q96RR4	KKCC2_HUMAN	123	C	Y	Polymorphism	-
Q96RR4	KKCC2_HUMAN	363	R	C	Polymorphism	-
Q96RR4	KKCC2_HUMAN	492	R	H	Polymorphism	-
Q96RR4	KKCC2_HUMAN	182	A	T	Unclassified	A colorectal adenocarcinoma sample
Q96RR4	KKCC2_HUMAN	127	P	L	Unclassified	A lung neuroendocrine carcinoma sample
Q96RR4	KKCC2_HUMAN	10	S	N	Polymorphism	-
Q96RR4	KKCC2_HUMAN	85	T	S	Polymorphism	-
Q96RS0	TGS1_HUMAN	299	P	S	Polymorphism	-
Q96RS0	TGS1_HUMAN	754	F	C	Polymorphism	-
Q96RS0	TGS1_HUMAN	511	I	T	Polymorphism	-
Q96RS0	TGS1_HUMAN	576	V	I	Polymorphism	-
Q96RS0	TGS1_HUMAN	16	I	T	Polymorphism	-
Q96RS0	TGS1_HUMAN	160	I	V	Polymorphism	-
Q96RS0	TGS1_HUMAN	595	T	A	Polymorphism	-
Q96RS6	NUDC1_HUMAN	394	N	H	Polymorphism	-
Q96RS6	NUDC1_HUMAN	426	N	S	Polymorphism	-
Q96RS6	NUDC1_HUMAN	252	L	F	Polymorphism	-
Q96RS6	NUDC1_HUMAN	269	I	V	Polymorphism	-
Q96RT1	ERBIN_HUMAN	914	K	R	Polymorphism	-
Q96RT1	ERBIN_HUMAN	1112	S	L	Polymorphism	-
Q96RT1	ERBIN_HUMAN	313	A	V	Polymorphism	-
Q96RT1	ERBIN_HUMAN	274	S	L	Polymorphism	-
Q96RT1	ERBIN_HUMAN	1089	G	V	Polymorphism	-
Q96RT1	ERBIN_HUMAN	746	K	E	Polymorphism	-
Q96RT1	ERBIN_HUMAN	1207	K	E	Polymorphism	-
Q96RT6	CTGE2_HUMAN	682	I	V	Polymorphism	-
Q96RT7	GCP6_HUMAN	567	L	S	Polymorphism	-
Q96RT7	GCP6_HUMAN	884	A	V	Polymorphism	-
Q96RT7	GCP6_HUMAN	624	I	M	Polymorphism	-
Q96RT7	GCP6_HUMAN	104	L	P	Polymorphism	-
Q96RT7	GCP6_HUMAN	1232	V	M	Polymorphism	-
Q96RT7	GCP6_HUMAN	1621	V	L	Polymorphism	-
Q96RT7	GCP6_HUMAN	1364	S	C	Polymorphism	-
Q96RT7	GCP6_HUMAN	1377	T	A	Polymorphism	-
Q96RT8	GCP5_HUMAN	662	E	D	Polymorphism	-
Q96RU3	FNBP1_HUMAN	490	S	N	Polymorphism	-
Q96RU7	TRIB3_HUMAN	153	R	H	Polymorphism	-
Q96RU7	TRIB3_HUMAN	274	R	H	Polymorphism	-
Q96RU7	TRIB3_HUMAN	84	Q	R	Polymorphism	-
Q96RU7	TRIB3_HUMAN	347	E	K	Polymorphism	-
Q96RU7	TRIB3_HUMAN	60	T	I	Unclassified	A glioblastoma multiforme sample
Q96RU8	TRIB1_HUMAN	360	E	D	Polymorphism	-
Q96RU8	TRIB1_HUMAN	360	E	A	Polymorphism	-
Q96RU8	TRIB1_HUMAN	215	T	M	Polymorphism	-
Q96RU8	TRIB1_HUMAN	173	S	R	Polymorphism	-
Q96RU8	TRIB1_HUMAN	267	V	I	Polymorphism	-
Q96RU8	TRIB1_HUMAN	371	F	L	Unclassified	A lung large cell carcinoma sample
Q96RU8	TRIB1_HUMAN	298	R	C	Polymorphism	-
Q96RV3	PCX1_HUMAN	814	L	I	Polymorphism	-
Q96RV3	PCX1_HUMAN	594	A	T	Polymorphism	-
Q96RV3	PCX1_HUMAN	809	L	I	Polymorphism	-
Q96RW7	HMCN1_HUMAN	4437	Q	R	Polymorphism	-
Q96RW7	HMCN1_HUMAN	2327	M	I	Polymorphism	-
Q96RW7	HMCN1_HUMAN	4084	H	Y	Polymorphism	-
Q96RW7	HMCN1_HUMAN	5345	Q	R	Disease	Macular degeneration, age-related, 1 (ARMD1) [MIM:603075]
Q96RW7	HMCN1_HUMAN	1624	A	V	Polymorphism	-
Q96RW7	HMCN1_HUMAN	5087	D	V	Polymorphism	-
Q96RW7	HMCN1_HUMAN	1184	V	F	Polymorphism	-
Q96RW7	HMCN1_HUMAN	1056	T	A	Polymorphism	-
Q96RW7	HMCN1_HUMAN	4720	A	T	Polymorphism	-
Q96RW7	HMCN1_HUMAN	2893	E	G	Polymorphism	-
Q96RW7	HMCN1_HUMAN	2418	I	T	Polymorphism	-
Q96RY7	IF140_HUMAN	280	R	W	Disease	Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7	IF140_HUMAN	664	E	K	Unclassified	Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7	IF140_HUMAN	974	A	V	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	1276	G	R	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	1360	C	R	Disease	Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7	IF140_HUMAN	459	W	S	Polymorphism	-
Q96RY7	IF140_HUMAN	1399	L	P	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	279	R	P	Polymorphism	-
Q96RY7	IF140_HUMAN	341	A	T	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	514	L	H	Polymorphism	-
Q96RY7	IF140_HUMAN	440	L	P	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	939	S	P	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	484	T	M	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	311	Y	C	Disease	Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7	IF140_HUMAN	1353	P	R	Polymorphism	-
Q96RY7	IF140_HUMAN	110	R	H	Polymorphism	-
Q96RY7	IF140_HUMAN	522	G	E	Disease	Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7	IF140_HUMAN	165	D	A	Polymorphism	-
Q96RY7	IF140_HUMAN	664	E	K	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	161	P	T	Polymorphism	-
Q96RY7	IF140_HUMAN	267	E	G	Disease	Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7	IF140_HUMAN	243	E	G	Polymorphism	-
Q96RY7	IF140_HUMAN	233	I	M	Disease	Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7	IF140_HUMAN	787	D	G	Polymorphism	-
Q96RY7	IF140_HUMAN	670	P	S	Polymorphism	-
Q96RY7	IF140_HUMAN	212	G	R	Disease	Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7	IF140_HUMAN	790	E	K	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	451	A	V	Polymorphism	-
Q96RY7	IF140_HUMAN	871	R	C	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	663	C	W	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	576	R	Q	Disease	Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7	IF140_HUMAN	152	L	F	Disease	Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7	IF140_HUMAN	71	P	L	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	292	V	M	Disease	Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7	IF140_HUMAN	398	V	I	Polymorphism	-
Q96RY7	IF140_HUMAN	777	L	R	Polymorphism	-
Q96RY7	IF140_HUMAN	329	C	R	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	621	R	Q	Polymorphism	-
Q96RY7	IF140_HUMAN	333	C	Y	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	418	A	P	Unclassified	Retinitis pigmentosa 80 (RP80) [MIM:617781]
Q96RY7	IF140_HUMAN	561	S	N	Polymorphism	-
Q96RY7	IF140_HUMAN	1070	A	V	Polymorphism	-
Q96RY7	IF140_HUMAN	280	R	Q	Polymorphism	-
Q96S06	LMF1_HUMAN	562	P	R	Polymorphism	-
Q96S06	LMF1_HUMAN	164	V	A	Polymorphism	-
Q96S06	LMF1_HUMAN	364	R	Q	Polymorphism	-
Q96S06	LMF1_HUMAN	203	S	P	Polymorphism	-
Q96S07	PRR25_HUMAN	249	P	L	Polymorphism	-
Q96S07	PRR25_HUMAN	92	T	S	Polymorphism	-
Q96S19	MTL26_HUMAN	136	L	P	Polymorphism	-
Q96S37	S22AC_HUMAN	298	E	D	Disease	Hypouricemia renal 1 (RHUC1) [MIM:220150]
Q96S37	S22AC_HUMAN	164	G	S	Disease	Hypouricemia renal 1 (RHUC1) [MIM:220150]
Q96S37	S22AC_HUMAN	138	V	M	Disease	Hypouricemia renal 1 (RHUC1) [MIM:220150]
Q96S37	S22AC_HUMAN	366	G	R	Disease	Hypouricemia renal 1 (RHUC1) [MIM:220150]
Q96S37	S22AC_HUMAN	477	R	H	Disease	Hypouricemia renal 1 (RHUC1) [MIM:220150]
Q96S37	S22AC_HUMAN	290	G	C	Unclassified	-
Q96S37	S22AC_HUMAN	297	Q	E	Unclassified	-
Q96S37	S22AC_HUMAN	382	Q	L	Disease	Hypouricemia renal 1 (RHUC1) [MIM:220150]
Q96S37	S22AC_HUMAN	92	R	C	Polymorphism	-
Q96S37	S22AC_HUMAN	418	L	R	Disease	Hypouricemia renal 1 (RHUC1) [MIM:220150]
Q96S37	S22AC_HUMAN	217	T	M	Disease	Hypouricemia renal 1 (RHUC1) [MIM:220150]
Q96S37	S22AC_HUMAN	305	I	S	Unclassified	-
Q96S37	S22AC_HUMAN	312	Q	L	Polymorphism	-
Q96S37	S22AC_HUMAN	90	R	H	Disease	Hypouricemia renal 1 (RHUC1) [MIM:220150]
Q96S37	S22AC_HUMAN	226	A	V	Polymorphism	-
Q96S37	S22AC_HUMAN	284	R	G	Unclassified	-
Q96S37	S22AC_HUMAN	65	G	W	Polymorphism	-
Q96S37	S22AC_HUMAN	430	M	T	Disease	Hypouricemia renal 1 (RHUC1) [MIM:220150]
Q96S38	KS6C1_HUMAN	1022	E	K	Unclassified	A breast infiltrating ductal carcinoma sample
Q96S38	KS6C1_HUMAN	319	P	L	Polymorphism	-
Q96S38	KS6C1_HUMAN	561	P	R	Polymorphism	-
Q96S38	KS6C1_HUMAN	546	A	P	Polymorphism	-
Q96S38	KS6C1_HUMAN	575	N	S	Polymorphism	-
Q96S38	KS6C1_HUMAN	554	L	I	Unclassified	A lung neuroendocrine carcinoma sample
Q96S38	KS6C1_HUMAN	42	P	T	Polymorphism	-
Q96S38	KS6C1_HUMAN	424	P	L	Polymorphism	-
Q96S38	KS6C1_HUMAN	1003	C	Y	Unclassified	A lung adenocarcinoma sample
Q96S38	KS6C1_HUMAN	96	E	K	Polymorphism	-
Q96S38	KS6C1_HUMAN	853	L	F	Polymorphism	-
Q96S38	KS6C1_HUMAN	663	G	A	Unclassified	An ovarian mucinous carcinoma sample
Q96S42	NODAL_HUMAN	183	R	Q	Disease	Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]
Q96S42	NODAL_HUMAN	275	R	C	Disease	Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]
Q96S42	NODAL_HUMAN	165	H	R	Polymorphism	-
Q96S42	NODAL_HUMAN	284	V	F	Disease	Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]
Q96S42	NODAL_HUMAN	279	E	K	Unclassified	A colorectal cancer sample
Q96S42	NODAL_HUMAN	203	E	K	Disease	Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]
Q96S42	NODAL_HUMAN	260	G	R	Disease	Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]
Q96S44	PRPK_HUMAN	145	T	A	Polymorphism	-
Q96S44	PRPK_HUMAN	25	A	T	Polymorphism	-
Q96S44	PRPK_HUMAN	42	G	D	Disease	Galloway-Mowat syndrome 4 (GAMOS4) [MIM:617730]
Q96S44	PRPK_HUMAN	123	R	Q	Polymorphism	-
Q96S44	PRPK_HUMAN	129	T	A	Polymorphism	-
Q96S44	PRPK_HUMAN	81	T	R	Disease	Galloway-Mowat syndrome 4 (GAMOS4) [MIM:617730]
Q96S44	PRPK_HUMAN	243	R	L	Disease	Galloway-Mowat syndrome 4 (GAMOS4) [MIM:617730]
Q96S52	PIGS_HUMAN	253	R	H	Polymorphism	-
Q96S52	PIGS_HUMAN	159	M	I	Unclassified	A breast cancer sample
Q96S52	PIGS_HUMAN	34	L	P	Disease	Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18) [MIM:618143]
Q96S52	PIGS_HUMAN	308	E	G	Disease	Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18) [MIM:618143]
Q96S53	TESK2_HUMAN	11	G	A	Unclassified	A breast infiltrating ductal carcinoma sample
Q96S65	CSRN1_HUMAN	453	V	I	Polymorphism	-
Q96S66	CLCC1_HUMAN	368	S	R	Polymorphism	-
Q96S79	RSLAB_HUMAN	52	V	M	Unclassified	A breast cancer sample
Q96S96	PEBP4_HUMAN	125	K	E	Polymorphism	-
Q96S96	PEBP4_HUMAN	211	E	G	Polymorphism	-
Q96SA4	SERC2_HUMAN	303	G	S	Polymorphism	-
Q96SB3	NEB2_HUMAN	201	A	T	Polymorphism	-
Q96SB4	SRPK1_HUMAN	72	I	T	Polymorphism	-
Q96SB8	SMC6_HUMAN	464	R	G	Polymorphism	-
Q96SB8	SMC6_HUMAN	928	K	Q	Polymorphism	-
Q96SB8	SMC6_HUMAN	691	A	T	Polymorphism	-
Q96SB8	SMC6_HUMAN	1046	I	M	Polymorphism	-
Q96SB8	SMC6_HUMAN	292	A	V	Unclassified	A breast cancer sample
Q96SD1	DCR1C_HUMAN	118	G	V	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]
Q96SD1	DCR1C_HUMAN	171	P	R	Polymorphism	-
Q96SD1	DCR1C_HUMAN	243	H	R	Polymorphism	-
Q96SD1	DCR1C_HUMAN	320	S	C	Polymorphism	-
Q96SD1	DCR1C_HUMAN	329	L	M	Polymorphism	-
Q96SD1	DCR1C_HUMAN	140	A	V	Polymorphism	-
Q96SD1	DCR1C_HUMAN	153	G	R	Polymorphism	-
Q96SD1	DCR1C_HUMAN	35	H	D	Disease	Omenn syndrome (OS) [MIM:603554]
Q96SD1	DCR1C_HUMAN	135	G	E	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]
Q96SE0	ABHD1_HUMAN	371	W	C	Polymorphism	-
Q96SE0	ABHD1_HUMAN	137	D	E	Polymorphism	-
Q96SE0	ABHD1_HUMAN	54	P	Q	Polymorphism	-
Q96SE7	ZN347_HUMAN	117	M	V	Polymorphism	-
Q96SE7	ZN347_HUMAN	264	N	D	Polymorphism	-
Q96SF2	TCPQM_HUMAN	320	W	R	Polymorphism	-
Q96SF7	TBX15_HUMAN	156	H	N	Polymorphism	-
Q96SI1	KCD15_HUMAN	64	G	S	Polymorphism	-
Q96SI9	STRBP_HUMAN	280	G	R	Unclassified	A breast cancer sample
Q96SJ8	TSN18_HUMAN	133	V	I	Polymorphism	-
Q96SK2	TM209_HUMAN	469	P	R	Polymorphism	-
Q96SK2	TM209_HUMAN	505	H	R	Polymorphism	-
Q96SK3	ZN607_HUMAN	375	S	T	Polymorphism	-
Q96SK3	ZN607_HUMAN	653	A	P	Polymorphism	-
Q96SK3	ZN607_HUMAN	433	R	H	Polymorphism	-
Q96SK3	ZN607_HUMAN	2	S	A	Polymorphism	-
Q96SK3	ZN607_HUMAN	123	F	L	Polymorphism	-
Q96SK3	ZN607_HUMAN	531	K	R	Polymorphism	-
Q96SK3	ZN607_HUMAN	70	R	H	Polymorphism	-
Q96SL8	FIZ1_HUMAN	391	T	A	Polymorphism	-
Q96SN7	ORAI2_HUMAN	15	A	P	Polymorphism	-
Q96SN8	CK5P2_HUMAN	289	E	Q	Polymorphism	-
Q96SN8	CK5P2_HUMAN	1045	R	T	Polymorphism	-
Q96SN8	CK5P2_HUMAN	183	A	P	Polymorphism	-
Q96SN8	CK5P2_HUMAN	1607	R	S	Polymorphism	-
Q96SN8	CK5P2_HUMAN	1540	V	L	Polymorphism	-
Q96SN8	CK5P2_HUMAN	1330	N	I	Polymorphism	-
Q96SQ7	ATOH8_HUMAN	150	L	P	Polymorphism	-
Q96SQ9	CP2S1_HUMAN	466	P	L	Polymorphism	-
Q96SR6	ZN382_HUMAN	168	E	G	Polymorphism	-
Q96ST2	IWS1_HUMAN	425	V	I	Polymorphism	-
Q96ST2	IWS1_HUMAN	390	A	V	Polymorphism	-
Q96ST3	SIN3A_HUMAN	1156	M	L	Polymorphism	-
Q96ST8	CEP89_HUMAN	398	V	A	Polymorphism	-
Q96ST8	CEP89_HUMAN	194	R	W	Polymorphism	-
Q96SU4	OSBL9_HUMAN	266	P	L	Polymorphism	-
Q96SW2	CRBN_HUMAN	391	C	R	Disease	Mental retardation, autosomal recessive 2A (MRT2A) [MIM:607417]
Q96SZ5	AEDO_HUMAN	266	P	S	Polymorphism	-
Q96SZ5	AEDO_HUMAN	39	P	A	Polymorphism	-
Q96SZ5	AEDO_HUMAN	25	G	W	Polymorphism	-
Q96T17	MA7D2_HUMAN	182	N	S	Polymorphism	-
Q96T17	MA7D2_HUMAN	32	A	P	Unclassified	A breast cancer sample
Q96T21	SEBP2_HUMAN	428	Q	E	Polymorphism	-
Q96T21	SEBP2_HUMAN	540	R	Q	Disease	Abnormal thyroid hormone metabolism (ATHYHM) [MIM:609698]
Q96T23	RSF1_HUMAN	304	E	D	Polymorphism	-
Q96T23	RSF1_HUMAN	475	S	P	Polymorphism	-
Q96T25	ZIC5_HUMAN	610	S	F	Polymorphism	-
Q96T51	RUFY1_HUMAN	298	H	Q	Polymorphism	-
Q96T51	RUFY1_HUMAN	267	C	F	Unclassified	A breast cancer sample
Q96T53	MBOA4_HUMAN	46	T	A	Polymorphism	-
Q96T53	MBOA4_HUMAN	231	G	E	Polymorphism	-
Q96T54	KCNKH_HUMAN	253	M	L	Polymorphism	-
Q96T54	KCNKH_HUMAN	21	S	G	Polymorphism	-
Q96T54	KCNKH_HUMAN	296	R	Q	Polymorphism	-
Q96T55	KCNKG_HUMAN	275	A	G	Polymorphism	-
Q96T55	KCNKG_HUMAN	301	P	H	Polymorphism	-
Q96T55	KCNKG_HUMAN	215	F	L	Polymorphism	-
Q96T58	MINT_HUMAN	1091	L	P	Polymorphism	-
Q96T58	MINT_HUMAN	1488	R	I	Unclassified	A breast cancer sample
Q96T58	MINT_HUMAN	1363	D	E	Polymorphism	-
Q96T58	MINT_HUMAN	990	D	H	Unclassified	A breast cancer sample
Q96T58	MINT_HUMAN	2360	N	D	Polymorphism	-
Q96T58	MINT_HUMAN	970	A	V	Polymorphism	-
Q96T59	CDRTF_HUMAN	24	R	Q	Polymorphism	-
Q96T60	PNKP_HUMAN	478	V	G	Polymorphism	-
Q96T60	PNKP_HUMAN	196	Y	N	Polymorphism	-
Q96T60	PNKP_HUMAN	180	R	S	Polymorphism	-
Q96T60	PNKP_HUMAN	176	L	F	Disease	Microcephaly, seizures, and developmental delay (MCSZ) [MIM:613402]
Q96T60	PNKP_HUMAN	20	P	S	Polymorphism	-
Q96T60	PNKP_HUMAN	462	R	P	Disease	Microcephaly, seizures, and developmental delay (MCSZ) [MIM:613402]
Q96T60	PNKP_HUMAN	375	G	W	Disease	Ataxia-oculomotor apraxia 4 (AOA4) [MIM:616267]
Q96T60	PNKP_HUMAN	326	E	K	Disease	Microcephaly, seizures, and developmental delay (MCSZ) [MIM:613402]
Q96T60	PNKP_HUMAN	63	A	V	Polymorphism	-
Q96T68	SETB2_HUMAN	473	V	M	Polymorphism	-
Q96T68	SETB2_HUMAN	117	E	G	Polymorphism	-
Q96T76	MMS19_HUMAN	526	V	I	Polymorphism	-
Q96T76	MMS19_HUMAN	434	Q	E	Polymorphism	-
Q96T76	MMS19_HUMAN	98	R	W	Polymorphism	-
Q96T76	MMS19_HUMAN	365	M	V	Polymorphism	-
Q96T76	MMS19_HUMAN	983	R	H	Polymorphism	-
Q96T76	MMS19_HUMAN	558	A	V	Polymorphism	-
Q96T76	MMS19_HUMAN	68	A	G	Polymorphism	-
Q96T76	MMS19_HUMAN	197	V	I	Polymorphism	-
Q96T76	MMS19_HUMAN	409	Q	P	Polymorphism	-
Q96T76	MMS19_HUMAN	790	G	D	Polymorphism	-
Q96T76	MMS19_HUMAN	306	R	H	Polymorphism	-
Q96T88	UHRF1_HUMAN	638	A	T	Polymorphism	-
Q96T88	UHRF1_HUMAN	713	L	F	Polymorphism	-
Q96T88	UHRF1_HUMAN	642	T	M	Polymorphism	-
Q96T88	UHRF1_HUMAN	240	D	H	Polymorphism	-
Q96T88	UHRF1_HUMAN	379	E	K	Polymorphism	-
Q96T92	INSM2_HUMAN	206	D	G	Polymorphism	-
Q96TA2	YMEL1_HUMAN	206	R	W	Disease	Optic atrophy 11 (OPA11) [MIM:617302]
Q96TC7	RMD3_HUMAN	33	Q	H	Polymorphism	-
Q99062	CSF3R_HUMAN	320	D	N	Polymorphism	-
Q99062	CSF3R_HUMAN	229	P	H	Disease	-
Q99062	CSF3R_HUMAN	440	R	Q	Polymorphism	-
Q99062	CSF3R_HUMAN	562	Y	H	Polymorphism	-
Q99062	CSF3R_HUMAN	405	E	K	Polymorphism	-
Q99062	CSF3R_HUMAN	231	M	T	Polymorphism	-
Q99062	CSF3R_HUMAN	583	R	C	Polymorphism	-
Q99062	CSF3R_HUMAN	510	D	H	Polymorphism	-
Q99062	CSF3R_HUMAN	640	T	N	Disease	Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830]
Q99062	CSF3R_HUMAN	346	Q	R	Polymorphism	-
Q99062	CSF3R_HUMAN	308	R	C	Disease	Neutropenia, severe congenital 7, autosomal recessive (SCN7) [MIM:617014]
Q99081	HTF4_HUMAN	614	Q	E	Disease	Craniosynostosis 3 (CRS3) [MIM:615314]
Q99081	HTF4_HUMAN	300	G	S	Polymorphism	-
Q99081	HTF4_HUMAN	600	L	P	Disease	Craniosynostosis 3 (CRS3) [MIM:615314]
Q99081	HTF4_HUMAN	483	L	R	Disease	Craniosynostosis 3 (CRS3) [MIM:615314]
Q99102	MUC4_HUMAN	585	S	A	Polymorphism	-
Q99102	MUC4_HUMAN	37	G	D	Polymorphism	-
Q99102	MUC4_HUMAN	1205	A	T	Polymorphism	-
Q99102	MUC4_HUMAN	161	T	A	Polymorphism	-
Q99102	MUC4_HUMAN	41	A	P	Polymorphism	-
Q99102	MUC4_HUMAN	721	A	T	Polymorphism	-
Q99102	MUC4_HUMAN	1081	G	D	Polymorphism	-
Q99102	MUC4_HUMAN	1578	A	S	Polymorphism	-
Q99217	AMELX_HUMAN	56	P	T	Disease	Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
Q99217	AMELX_HUMAN	37	T	I	Disease	Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
Q99217	AMELX_HUMAN	4	W	S	Disease	Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
Q99250	SCN2A_HUMAN	575	A	V	Polymorphism	-
Q99250	SCN2A_HUMAN	1902	R	T	Unclassified	-
Q99250	SCN2A_HUMAN	1563	L	V	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	212	N	D	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1744	G	R	Disease	-
Q99250	SCN2A_HUMAN	1473	I	M	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1882	R	L	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	211	G	D	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1629	R	L	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	12	D	N	Disease	-
Q99250	SCN2A_HUMAN	236	T	S	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	208	V	E	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	1211	E	K	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1918	R	H	Polymorphism	-
Q99250	SCN2A_HUMAN	220	R	G	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	263	A	V	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1321	E	K	Unclassified	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	674	T	K	Disease	-
Q99250	SCN2A_HUMAN	1479	Q	P	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	649	D	N	Unclassified	-
Q99250	SCN2A_HUMAN	1344	C	Y	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1623	T	N	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	896	A	V	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1316	A	V	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1634	G	D	Unclassified	-
Q99250	SCN2A_HUMAN	908	K	E	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	385	F	Y	Polymorphism	-
Q99250	SCN2A_HUMAN	873	I	M	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1260	K	Q	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1260	K	E	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1531	Q	K	Unclassified	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	322	D	N	Unclassified	-
Q99250	SCN2A_HUMAN	19	R	K	Polymorphism	-
Q99250	SCN2A_HUMAN	251	V	I	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1312	R	T	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1882	R	Q	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1650	L	P	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	467	A	T	Disease	-
Q99250	SCN2A_HUMAN	261	V	M	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	1330	L	F	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	1829	L	F	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	524	R	Q	Polymorphism	-
Q99250	SCN2A_HUMAN	987	S	I	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	172	I	V	Unclassified	-
Q99250	SCN2A_HUMAN	191	W	G	Disease	-
Q99250	SCN2A_HUMAN	1853	H	R	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	252	M	V	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	1338	M	T	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1422	K	E	Disease	-
Q99250	SCN2A_HUMAN	328	F	V	Unclassified	-
Q99250	SCN2A_HUMAN	1596	I	S	Unclassified	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	1522	G	A	Unclassified	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	424	V	M	Disease	-
Q99250	SCN2A_HUMAN	773	T	I	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	928	F	C	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	213	V	D	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1548	M	T	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	892	V	I	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	999	E	V	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	223	R	Q	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	1660	L	W	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1589	Y	C	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	1593	G	R	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	240	A	S	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	1001	N	K	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	191	W	C	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	263	A	T	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1882	R	G	Disease	-
Q99250	SCN2A_HUMAN	430	E	Q	Unclassified	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	1641	K	N	Unclassified	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	1372	G	R	Unclassified	-
Q99250	SCN2A_HUMAN	1420	T	M	Disease	-
Q99250	SCN2A_HUMAN	1003	L	I	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	188	R	W	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	136	M	I	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	379	R	H	Disease	-
Q99250	SCN2A_HUMAN	999	E	K	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1282	V	F	Unclassified	-
Q99250	SCN2A_HUMAN	1559	M	V	Unclassified	-
Q99250	SCN2A_HUMAN	1460	G	R	Disease	-
Q99250	SCN2A_HUMAN	976	N	K	Unclassified	-
Q99250	SCN2A_HUMAN	1634	G	V	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1319	R	Q	Disease	Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
Q99250	SCN2A_HUMAN	169	E	G	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	82	D	G	Disease	-
Q99250	SCN2A_HUMAN	1326	V	L	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	853	R	Q	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	218	T	K	Unclassified	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	905	K	N	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1386	C	R	Disease	-
Q99250	SCN2A_HUMAN	132	N	K	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	937	R	C	Disease	-
Q99250	SCN2A_HUMAN	1336	S	Y	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1128	M	T	Unclassified	-
Q99250	SCN2A_HUMAN	1823	D	A	Unclassified	-
Q99250	SCN2A_HUMAN	856	R	L	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	876	N	T	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	937	R	H	Disease	-
Q99250	SCN2A_HUMAN	850	R	P	Unclassified	-
Q99250	SCN2A_HUMAN	1323	M	V	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1326	V	D	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	1342	L	P	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	430	E	G	Disease	Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]
Q99250	SCN2A_HUMAN	908	K	R	Unclassified	-
Q99259	DCE1_HUMAN	532	R	Q	Polymorphism	-
Q99259	DCE1_HUMAN	228	I	L	Polymorphism	-
Q99259	DCE1_HUMAN	474	V	G	Polymorphism	-
Q99259	DCE1_HUMAN	565	F	L	Polymorphism	-
Q99259	DCE1_HUMAN	12	S	C	Disease	Cerebral palsy, spastic quadriplegic 1 (CPSQ1) [MIM:603513]
Q99424	ACOX2_HUMAN	225	R	W	Disease	Congenital bile acid synthesis defect 6 (CBAS6) [MIM:617308]
Q99435	NELL2_HUMAN	347	N	D	Polymorphism	-
Q99435	NELL2_HUMAN	631	P	L	Polymorphism	-
Q99435	NELL2_HUMAN	5	V	I	Polymorphism	-
Q99436	PSB7_HUMAN	39	V	A	Polymorphism	-
Q99437	VATO_HUMAN	155	V	M	Unclassified	A breast cancer sample
Q99440	CD006_HUMAN	15	N	K	Polymorphism	-
Q99445	GML_HUMAN	54	R	C	Polymorphism	-
Q99453	PHX2B_HUMAN	197	G	D	Polymorphism	-
Q99453	PHX2B_HUMAN	141	R	G	Polymorphism	-
Q99453	PHX2B_HUMAN	141	R	Q	Disease	Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
Q99453	PHX2B_HUMAN	143	Q	R	Disease	Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
Q99453	PHX2B_HUMAN	100	R	L	Polymorphism	-
Q99456	K1C12_HUMAN	143	V	L	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	429	Y	C	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	429	Y	D	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	135	R	S	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	140	L	Q	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	135	R	I	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	135	R	T	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	129	M	V	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	135	R	G	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	132	L	P	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	433	L	R	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	129	M	T	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	20	R	W	Polymorphism	-
Q99456	K1C12_HUMAN	426	I	S	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	137	A	P	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	15	P	S	Polymorphism	-
Q99456	K1C12_HUMAN	140	L	R	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	130	Q	P	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99456	K1C12_HUMAN	430	R	P	Disease	Corneal dystrophy, Meesmann (MECD) [MIM:122100]
Q99457	NP1L3_HUMAN	224	P	A	Polymorphism	-
Q99459	CDC5L_HUMAN	459	Y	C	Polymorphism	-
Q99466	NOTC4_HUMAN	1346	R	P	Polymorphism	-
Q99466	NOTC4_HUMAN	206	P	L	Polymorphism	-
Q99466	NOTC4_HUMAN	942	G	R	Polymorphism	-
Q99466	NOTC4_HUMAN	284	Q	H	Polymorphism	-
Q99466	NOTC4_HUMAN	534	G	S	Polymorphism	-
Q99466	NOTC4_HUMAN	809	S	I	Polymorphism	-
Q99466	NOTC4_HUMAN	320	T	A	Polymorphism	-
Q99466	NOTC4_HUMAN	317	E	Q	Polymorphism	-
Q99466	NOTC4_HUMAN	117	K	Q	Polymorphism	-
Q99466	NOTC4_HUMAN	851	K	R	Polymorphism	-
Q99466	NOTC4_HUMAN	272	D	G	Polymorphism	-
Q99466	NOTC4_HUMAN	204	P	L	Polymorphism	-
Q99466	NOTC4_HUMAN	244	S	L	Polymorphism	-
Q99467	CD180_HUMAN	53	N	K	Polymorphism	-
Q99467	CD180_HUMAN	20	V	L	Polymorphism	-
Q99467	CD180_HUMAN	648	F	L	Polymorphism	-
Q99467	CD180_HUMAN	430	T	A	Polymorphism	-
Q99467	CD180_HUMAN	99	S	R	Polymorphism	-
Q99467	CD180_HUMAN	259	D	N	Polymorphism	-
Q99467	CD180_HUMAN	356	V	M	Polymorphism	-
Q99469	STAC_HUMAN	262	N	S	Polymorphism	-
Q99470	SDF2_HUMAN	15	A	T	Polymorphism	-
Q99489	OXDD_HUMAN	255	L	R	Polymorphism	-
Q99489	OXDD_HUMAN	136	F	L	Unclassified	A breast cancer sample
Q99489	OXDD_HUMAN	230	H	Y	Polymorphism	-
Q99489	OXDD_HUMAN	189	Q	E	Polymorphism	-
Q99490	AGAP2_HUMAN	816	D	Y	Unclassified	A breast cancer sample
Q99490	AGAP2_HUMAN	1022	S	P	Unclassified	A glioblastoma cell line
Q99490	AGAP2_HUMAN	1124	G	V	Polymorphism	-
Q99490	AGAP2_HUMAN	339	T	A	Unclassified	A breast cancer sample
Q99490	AGAP2_HUMAN	507	G	S	Polymorphism	-
Q99490	AGAP2_HUMAN	767	E	V	Unclassified	A glioblastoma cell line
Q99490	AGAP2_HUMAN	947	V	M	Unclassified	A sarcoma cell line
Q99490	AGAP2_HUMAN	455	V	A	Unclassified	A glioblastoma cell line
Q99490	AGAP2_HUMAN	568	T	I	Unclassified	-
Q99490	AGAP2_HUMAN	518	R	G	Unclassified	A sarcoma cell line
Q99490	AGAP2_HUMAN	939	N	D	Unclassified	A glioblastoma cell line
Q99490	AGAP2_HUMAN	651	A	V	Unclassified	A glioblastoma cell line
Q99497	PARK7_HUMAN	171	A	S	Polymorphism	-
Q99497	PARK7_HUMAN	26	M	I	Disease	Parkinson disease 7 (PARK7) [MIM:606324]
Q99497	PARK7_HUMAN	166	L	P	Disease	Parkinson disease 7 (PARK7) [MIM:606324]
Q99497	PARK7_HUMAN	39	A	S	Disease	-
Q99497	PARK7_HUMAN	98	R	Q	Polymorphism	-
Q99497	PARK7_HUMAN	150	G	S	Polymorphism	-
Q99497	PARK7_HUMAN	64	E	D	Disease	Parkinson disease 7 (PARK7) [MIM:606324]
Q99497	PARK7_HUMAN	163	E	K	Polymorphism	-
Q99497	PARK7_HUMAN	104	A	T	Disease	Parkinson disease 7 (PARK7) [MIM:606324]
Q99497	PARK7_HUMAN	149	D	A	Disease	Parkinson disease 7 (PARK7) [MIM:606324]
Q99500	S1PR3_HUMAN	243	R	Q	Polymorphism	-
Q99501	GA2L1_HUMAN	490	S	G	Polymorphism	-
Q99502	EYA1_HUMAN	547	R	G	Disease	Anterior segment anomalies with or without cataract (ASA) [MIM:602588]
Q99502	EYA1_HUMAN	426	G	S	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99502	EYA1_HUMAN	440	R	Q	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99502	EYA1_HUMAN	583	L	P	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99502	EYA1_HUMAN	20	P	A	Polymorphism	-
Q99502	EYA1_HUMAN	505	L	R	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99502	EYA1_HUMAN	514	L	P	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99502	EYA1_HUMAN	429	D	G	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99502	EYA1_HUMAN	242	S	G	Disease	Branchiootic syndrome 1 (BOS1) [MIM:602588]
Q99502	EYA1_HUMAN	487	S	P	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99502	EYA1_HUMAN	41	E	K	Polymorphism	-
Q99502	EYA1_HUMAN	140	G	S	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99502	EYA1_HUMAN	95	P	S	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99502	EYA1_HUMAN	569	M	T	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99502	EYA1_HUMAN	363	E	K	Disease	Anterior segment anomalies with or without cataract (ASA) [MIM:602588]
Q99502	EYA1_HUMAN	363	E	V	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99502	EYA1_HUMAN	527	Y	C	Disease	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]
Q99518	FMO2_HUMAN	413	N	K	Polymorphism	-
Q99518	FMO2_HUMAN	81	F	S	Polymorphism	-
Q99518	FMO2_HUMAN	36	D	G	Polymorphism	-
Q99518	FMO2_HUMAN	182	F	S	Polymorphism	-
Q99518	FMO2_HUMAN	238	R	Q	Polymorphism	-
Q99518	FMO2_HUMAN	195	S	L	Polymorphism	-
Q99518	FMO2_HUMAN	391	R	T	Polymorphism	-
Q99518	FMO2_HUMAN	69	F	Y	Polymorphism	-
Q99518	FMO2_HUMAN	314	E	G	Polymorphism	-
Q99518	FMO2_HUMAN	59	V	I	Polymorphism	-
Q99519	NEUR1_HUMAN	240	W	R	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	328	G	S	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	231	L	H	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	298	A	V	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	363	L	P	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	219	G	A	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	341	R	G	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	260	F	Y	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	217	V	A	Polymorphism	-
Q99519	NEUR1_HUMAN	222	T	M	Polymorphism	-
Q99519	NEUR1_HUMAN	90	L	F	Polymorphism	-
Q99519	NEUR1_HUMAN	208	R	Q	Polymorphism	-
Q99519	NEUR1_HUMAN	227	G	R	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	210	P	A	Polymorphism	-
Q99519	NEUR1_HUMAN	294	R	S	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	80	P	L	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	335	P	Q	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	243	G	R	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	270	L	P	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	182	S	G	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	370	Y	C	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	270	L	F	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	217	V	M	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	252	G	S	Polymorphism	-
Q99519	NEUR1_HUMAN	68	G	V	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	91	L	R	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	234	D	N	Polymorphism	-
Q99519	NEUR1_HUMAN	357	R	Q	Polymorphism	-
Q99519	NEUR1_HUMAN	248	G	S	Polymorphism	-
Q99519	NEUR1_HUMAN	179	V	A	Polymorphism	-
Q99519	NEUR1_HUMAN	316	P	S	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	54	V	M	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	225	R	P	Disease	Sialidosis (SIALIDOSIS) [MIM:256550]
Q99519	NEUR1_HUMAN	279	A	T	Polymorphism	-
Q99519	NEUR1_HUMAN	88	G	A	Polymorphism	-
Q99519	NEUR1_HUMAN	351	S	R	Polymorphism	-
Q99523	SORT_HUMAN	358	D	Y	Polymorphism	-
Q99527	GPER1_HUMAN	16	P	L	Polymorphism	-
Q99538	LGMN_HUMAN	18	V	I	Polymorphism	-
Q99541	PLIN2_HUMAN	251	S	P	Polymorphism	-
Q99542	MMP19_HUMAN	103	R	C	Polymorphism	-
Q99542	MMP19_HUMAN	488	P	T	Polymorphism	-
Q99542	MMP19_HUMAN	245	P	S	Polymorphism	-
Q99542	MMP19_HUMAN	491	T	M	Polymorphism	-
Q99547	MPH6_HUMAN	58	I	V	Polymorphism	-
Q99550	MPP9_HUMAN	277	G	S	Polymorphism	-
Q99550	MPP9_HUMAN	1078	A	D	Polymorphism	-
Q99551	MTEF1_HUMAN	231	A	T	Polymorphism	-
Q99551	MTEF1_HUMAN	294	A	T	Polymorphism	-
Q99558	M3K14_HUMAN	928	P	H	Polymorphism	-
Q99558	M3K14_HUMAN	852	T	I	Unclassified	An ovarian mucinous carcinoma sample
Q99558	M3K14_HUMAN	140	S	N	Polymorphism	-
Q99558	M3K14_HUMAN	255	T	M	Polymorphism	-
Q99558	M3K14_HUMAN	764	T	A	Polymorphism	-
Q99558	M3K14_HUMAN	674	H	Y	Polymorphism	-
Q99558	M3K14_HUMAN	514	G	K	Unclassified	A lung neuroendocrine carcinoma sample
Q99567	NUP88_HUMAN	289	N	S	Polymorphism	-
Q99570	PI3R4_HUMAN	273	F	L	Polymorphism	-
Q99570	PI3R4_HUMAN	699	L	V	Polymorphism	-
Q99570	PI3R4_HUMAN	936	R	Q	Unclassified	A breast cancer sample
Q99570	PI3R4_HUMAN	388	T	I	Polymorphism	-
Q99570	PI3R4_HUMAN	393	D	N	Polymorphism	-
Q99570	PI3R4_HUMAN	347	R	W	Polymorphism	-
Q99570	PI3R4_HUMAN	1043	G	V	Polymorphism	-
Q99570	PI3R4_HUMAN	342	R	H	Polymorphism	-
Q99571	P2RX4_HUMAN	135	G	S	Polymorphism	-
Q99571	P2RX4_HUMAN	6	A	S	Polymorphism	-
Q99571	P2RX4_HUMAN	242	S	G	Polymorphism	-
Q99571	P2RX4_HUMAN	3	G	C	Polymorphism	-
Q99571	P2RX4_HUMAN	315	Y	C	Polymorphism	-
Q99572	P2RX7_HUMAN	544	R	Q	Polymorphism	-
Q99572	P2RX7_HUMAN	433	A	V	Polymorphism	-
Q99572	P2RX7_HUMAN	205	T	M	Polymorphism	-
Q99572	P2RX7_HUMAN	535	A	V	Polymorphism	-
Q99572	P2RX7_HUMAN	568	I	N	Polymorphism	-
Q99572	P2RX7_HUMAN	496	E	A	Polymorphism	-
Q99572	P2RX7_HUMAN	148	Q	R	Polymorphism	-
Q99572	P2RX7_HUMAN	521	H	Q	Polymorphism	-
Q99572	P2RX7_HUMAN	522	V	I	Polymorphism	-
Q99572	P2RX7_HUMAN	361	N	S	Polymorphism	-
Q99572	P2RX7_HUMAN	430	P	R	Polymorphism	-
Q99572	P2RX7_HUMAN	578	R	Q	Polymorphism	-
Q99572	P2RX7_HUMAN	125	R	L	Polymorphism	-
Q99572	P2RX7_HUMAN	460	Q	R	Polymorphism	-
Q99572	P2RX7_HUMAN	276	R	H	Polymorphism	-
Q99572	P2RX7_HUMAN	357	T	S	Polymorphism	-
Q99572	P2RX7_HUMAN	270	R	H	Polymorphism	-
Q99572	P2RX7_HUMAN	117	R	W	Polymorphism	-
Q99572	P2RX7_HUMAN	76	V	A	Polymorphism	-
Q99572	P2RX7_HUMAN	150	G	R	Polymorphism	-
Q99572	P2RX7_HUMAN	264	R	H	Polymorphism	-
Q99572	P2RX7_HUMAN	348	A	T	Polymorphism	-
Q99572	P2RX7_HUMAN	25	N	S	Unclassified	A colorectal cancer sample
Q99572	P2RX7_HUMAN	288	Y	H	Polymorphism	-
Q99572	P2RX7_HUMAN	574	R	L	Unclassified	A colorectal cancer sample
Q99572	P2RX7_HUMAN	270	R	C	Polymorphism	-
Q99572	P2RX7_HUMAN	307	R	Q	Polymorphism	-
Q99572	P2RX7_HUMAN	155	Y	H	Polymorphism	-
Q99574	NEUS_HUMAN	52	S	R	Disease	Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) [MIM:604218]
Q99574	NEUS_HUMAN	49	S	P	Disease	Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) [MIM:604218]
Q99575	POP1_HUMAN	583	G	E	Disease	Anauxetic dysplasia 2 (ANXD2) [MIM:617396]
Q99575	POP1_HUMAN	511	D	Y	Disease	Anauxetic dysplasia 2 (ANXD2) [MIM:617396]
Q99575	POP1_HUMAN	582	P	S	Disease	Anauxetic dysplasia 2 (ANXD2) [MIM:617396]
Q99575	POP1_HUMAN	522	K	N	Polymorphism	-
Q99575	POP1_HUMAN	994	L	V	Polymorphism	-
Q99575	POP1_HUMAN	127	S	L	Polymorphism	-
Q99575	POP1_HUMAN	675	E	Q	Unclassified	A breast cancer sample
Q99575	POP1_HUMAN	460	E	A	Polymorphism	-
Q99583	MNT_HUMAN	109	A	T	Polymorphism	-
Q99590	SCAFB_HUMAN	657	F	Y	Polymorphism	-
Q99590	SCAFB_HUMAN	1261	V	L	Polymorphism	-
Q99592	ZBT18_HUMAN	132	E	G	Polymorphism	-
Q99593	TBX5_HUMAN	54	I	T	Disease	Holt-Oram syndrome (HOS) [MIM:142900]
Q99593	TBX5_HUMAN	80	G	R	Disease	Holt-Oram syndrome (HOS) [MIM:142900]
Q99593	TBX5_HUMAN	237	R	W	Disease	Holt-Oram syndrome (HOS) [MIM:142900]
Q99593	TBX5_HUMAN	143	A	T	Disease	-
Q99593	TBX5_HUMAN	49	Q	K	Disease	Holt-Oram syndrome (HOS) [MIM:142900]
Q99593	TBX5_HUMAN	132	P	S	Disease	-
Q99593	TBX5_HUMAN	170	H	D	Disease	-
Q99593	TBX5_HUMAN	154	S	A	Disease	-
Q99593	TBX5_HUMAN	237	R	Q	Disease	Holt-Oram syndrome (HOS) [MIM:142900]
Q99594	TEAD3_HUMAN	254	T	M	Polymorphism	-
Q99595	TI17A_HUMAN	113	V	I	Polymorphism	-
Q99608	NECD_HUMAN	318	V	A	Polymorphism	-
Q99611	SPS2_HUMAN	269	P	A	Polymorphism	-
Q99612	KLF6_HUMAN	64	W	R	Polymorphism	-
Q99612	KLF6_HUMAN	116	S	P	Polymorphism	-
Q99612	KLF6_HUMAN	172	P	T	Unclassified	-
Q99612	KLF6_HUMAN	155	S	R	Polymorphism	-
Q99612	KLF6_HUMAN	123	A	D	Polymorphism	-
Q99612	KLF6_HUMAN	198	R	K	Unclassified	-
Q99612	KLF6_HUMAN	180	S	L	Polymorphism	-
Q99612	KLF6_HUMAN	169	L	P	Polymorphism	-
Q99614	TTC1_HUMAN	290	N	S	Polymorphism	-
Q99616	CCL13_HUMAN	5	A	S	Polymorphism	-
Q99616	CCL13_HUMAN	29	N	S	Polymorphism	-
Q99622	C10_HUMAN	51	L	Q	Disease	Temtamy syndrome (TEMTYS) [MIM:218340]
Q99626	CDX2_HUMAN	293	P	S	Polymorphism	-
Q99638	RAD9A_HUMAN	239	H	R	Polymorphism	-
Q99638	RAD9A_HUMAN	3	C	F	Polymorphism	-
Q99638	RAD9A_HUMAN	71	L	Q	Polymorphism	-
Q99638	RAD9A_HUMAN	307	M	T	Polymorphism	-
Q99638	RAD9A_HUMAN	100	S	A	Polymorphism	-
Q99640	PMYT1_HUMAN	103	E	Q	Polymorphism	-
Q99640	PMYT1_HUMAN	445	V	A	Polymorphism	-
Q99640	PMYT1_HUMAN	351	E	K	Polymorphism	-
Q99640	PMYT1_HUMAN	417	P	R	Polymorphism	-
Q99640	PMYT1_HUMAN	246	R	H	Polymorphism	-
Q99640	PMYT1_HUMAN	140	R	C	Polymorphism	-
Q99645	EPYC_HUMAN	150	S	C	Polymorphism	-
Q99650	OSMR_HUMAN	210	G	W	Polymorphism	-
Q99650	OSMR_HUMAN	647	D	V	Disease	Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]
Q99650	OSMR_HUMAN	187	H	Q	Polymorphism	-
Q99650	OSMR_HUMAN	936	P	S	Polymorphism	-
Q99650	OSMR_HUMAN	697	K	T	Disease	Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]
Q99650	OSMR_HUMAN	553	D	N	Polymorphism	-
Q99650	OSMR_HUMAN	959	P	R	Polymorphism	-
Q99650	OSMR_HUMAN	527	E	K	Polymorphism	-
Q99650	OSMR_HUMAN	618	G	A	Disease	Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]
Q99650	OSMR_HUMAN	694	P	L	Disease	Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]
Q99650	OSMR_HUMAN	691	I	T	Disease	Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]
Q99661	KIF2C_HUMAN	449	I	L	Polymorphism	-
Q99665	I12R2_HUMAN	313	R	G	Polymorphism	-
Q99665	I12R2_HUMAN	420	G	R	Polymorphism	-
Q99665	I12R2_HUMAN	625	A	V	Polymorphism	-
Q99665	I12R2_HUMAN	420	G	S	Polymorphism	-
Q99665	I12R2_HUMAN	808	L	R	Polymorphism	-
Q99665	I12R2_HUMAN	13	M	V	Polymorphism	-
Q99665	I12R2_HUMAN	426	Q	H	Polymorphism	-
Q99665	I12R2_HUMAN	201	T	I	Polymorphism	-
Q99665	I12R2_HUMAN	720	H	R	Polymorphism	-
Q99665	I12R2_HUMAN	149	R	Q	Polymorphism	-
Q99665	I12R2_HUMAN	465	G	D	Polymorphism	-
Q99665	I12R2_HUMAN	185	I	V	Polymorphism	-
Q99674	CGRE1_HUMAN	243	G	E	Polymorphism	-
Q99674	CGRE1_HUMAN	232	K	N	Polymorphism	-
Q99674	CGRE1_HUMAN	232	K	E	Polymorphism	-
Q99674	CGRE1_HUMAN	116	I	M	Polymorphism	-
Q99674	CGRE1_HUMAN	212	A	V	Polymorphism	-
Q99674	CGRE1_HUMAN	226	E	G	Polymorphism	-
Q99675	CGRF1_HUMAN	117	C	Y	Polymorphism	-
Q99676	ZN184_HUMAN	27	A	S	Polymorphism	-
Q99678	GPR20_HUMAN	230	H	R	Polymorphism	-
Q99678	GPR20_HUMAN	260	R	C	Polymorphism	-
Q99678	GPR20_HUMAN	313	G	S	Polymorphism	-
Q99683	M3K5_HUMAN	1315	D	N	Polymorphism	-
Q99683	M3K5_HUMAN	1006	G	R	Polymorphism	-
Q99683	M3K5_HUMAN	1250	I	V	Polymorphism	-
Q99683	M3K5_HUMAN	1214	I	T	Polymorphism	-
Q99683	M3K5_HUMAN	1314	T	I	Polymorphism	-
Q99684	GFI1_HUMAN	36	S	N	Polymorphism	-
Q99684	GFI1_HUMAN	382	N	S	Disease	Neutropenia, severe congenital 2, autosomal dominant (SCN2) [MIM:613107]
Q99684	GFI1_HUMAN	403	K	R	Disease	Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847]
Q99689	FEZ1_HUMAN	123	D	E	Polymorphism	-
Q99697	PITX2_HUMAN	114	T	P	Disease	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697	PITX2_HUMAN	110	P	R	Disease	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697	PITX2_HUMAN	137	R	P	Disease	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697	PITX2_HUMAN	154	N	T	Disease	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697	PITX2_HUMAN	129	V	L	Disease	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697	PITX2_HUMAN	134	K	E	Disease	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697	PITX2_HUMAN	108	R	H	Disease	Ring dermoid of cornea (RDC) [MIM:180550]
Q99697	PITX2_HUMAN	110	P	L	Disease	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697	PITX2_HUMAN	151	L	V	Disease	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697	PITX2_HUMAN	130	R	W	Disease	Anterior segment dysgenesis 4 (ASGD4) [MIM:137600]
Q99697	PITX2_HUMAN	136	R	C	Disease	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697	PITX2_HUMAN	115	R	H	Disease	Anterior segment dysgenesis 4 (ASGD4) [MIM:137600]
Q99697	PITX2_HUMAN	100	L	Q	Disease	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99698	LYST_HUMAN	1563	R	H	Disease	Chediak-Higashi syndrome (CHS) [MIM:214500]
Q99698	LYST_HUMAN	2598	F	Y	Polymorphism	-
Q99698	LYST_HUMAN	2936	V	I	Polymorphism	-
Q99698	LYST_HUMAN	1999	V	D	Disease	Chediak-Higashi syndrome (CHS) [MIM:214500]
Q99698	LYST_HUMAN	1949	Q	H	Polymorphism	-
Q99698	LYST_HUMAN	123	H	R	Polymorphism	-
Q99698	LYST_HUMAN	2116	T	M	Polymorphism	-
Q99698	LYST_HUMAN	192	L	V	Polymorphism	-
Q99698	LYST_HUMAN	1397	F	V	Disease	Chediak-Higashi syndrome (CHS) [MIM:214500]
Q99698	LYST_HUMAN	1017	S	N	Polymorphism	-
Q99698	LYST_HUMAN	702	E	G	Polymorphism	-
Q99698	LYST_HUMAN	2804	G	D	Polymorphism	-
Q99700	ATX2_HUMAN	248	S	N	Polymorphism	-
Q99700	ATX2_HUMAN	107	L	V	Polymorphism	-
Q99705	MCHR1_HUMAN	317	R	Q	Polymorphism	-
Q99705	MCHR1_HUMAN	210	R	H	Polymorphism	-
Q99705	MCHR1_HUMAN	250	Y	H	Polymorphism	-
Q99705	MCHR1_HUMAN	305	T	M	Polymorphism	-
Q99705	MCHR1_HUMAN	411	T	M	Polymorphism	-
Q99705	MCHR1_HUMAN	103	G	R	Polymorphism	-
Q99705	MCHR1_HUMAN	25	T	M	Polymorphism	-
Q99705	MCHR1_HUMAN	377	P	S	Polymorphism	-
Q99705	MCHR1_HUMAN	32	N	D	Polymorphism	-
Q99705	MCHR1_HUMAN	28	D	V	Polymorphism	-
Q99705	MCHR1_HUMAN	34	G	R	Polymorphism	-
Q99706	KI2L4_HUMAN	87	V	L	Polymorphism	-
Q99706	KI2L4_HUMAN	271	D	N	Polymorphism	-
Q99706	KI2L4_HUMAN	371	N	H	Polymorphism	-
Q99706	KI2L4_HUMAN	53	Y	C	Polymorphism	-
Q99706	KI2L4_HUMAN	209	P	A	Polymorphism	-
Q99706	KI2L4_HUMAN	138	A	T	Polymorphism	-
Q99707	METH_HUMAN	919	D	G	Polymorphism	-
Q99707	METH_HUMAN	314	D	N	Polymorphism	-
Q99707	METH_HUMAN	255	C	Y	Polymorphism	-
Q99707	METH_HUMAN	1173	P	L	Disease	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940]
Q99707	METH_HUMAN	61	R	K	Polymorphism	-
Q99707	METH_HUMAN	52	R	Q	Polymorphism	-
Q99707	METH_HUMAN	920	H	D	Disease	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940]
Q99708	CTIP_HUMAN	387	H	Y	Polymorphism	-
Q99708	CTIP_HUMAN	357	K	N	Polymorphism	-
Q99708	CTIP_HUMAN	100	R	W	Disease	Seckel syndrome 2 (SCKL2) [MIM:606744]
Q99712	KCJ15_HUMAN	71	A	T	Unclassified	A breast cancer sample
Q99712	KCJ15_HUMAN	30	M	L	Polymorphism	-
Q99712	KCJ15_HUMAN	98	G	D	Polymorphism	-
Q99714	HCD2_HUMAN	130	R	C	Disease	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99714	HCD2_HUMAN	86	D	G	Disease	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99714	HCD2_HUMAN	210	P	S	Disease	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99714	HCD2_HUMAN	212	K	E	Disease	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99714	HCD2_HUMAN	226	R	Q	Disease	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99714	HCD2_HUMAN	122	L	V	Disease	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99714	HCD2_HUMAN	165	Q	H	Disease	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99714	HCD2_HUMAN	12	V	L	Disease	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99714	HCD2_HUMAN	176	V	M	Disease	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99714	HCD2_HUMAN	247	N	S	Disease	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99714	HCD2_HUMAN	65	V	A	Unclassified	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99714	HCD2_HUMAN	249	E	Q	Disease	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
Q99715	COCA1_HUMAN	3058	G	S	Polymorphism	-
Q99715	COCA1_HUMAN	461	A	P	Polymorphism	-
Q99715	COCA1_HUMAN	2596	I	V	Polymorphism	-
Q99715	COCA1_HUMAN	3048	Q	H	Polymorphism	-
Q99715	COCA1_HUMAN	2160	E	V	Polymorphism	-
Q99715	COCA1_HUMAN	2786	G	D	Disease	Bethlem myopathy 2 (BTHLM2) [MIM:616471]
Q99715	COCA1_HUMAN	2334	I	T	Disease	Bethlem myopathy 2 (BTHLM2) [MIM:616471]
Q99715	COCA1_HUMAN	1738	I	T	Polymorphism	-
Q99715	COCA1_HUMAN	2021	R	Q	Polymorphism	-
Q99715	COCA1_HUMAN	1965	R	C	Unclassified	Bethlem myopathy 2 (BTHLM2) [MIM:616471]
Q99720	SGMR1_HUMAN	65	L	Q	Unclassified	Distal spinal muscular atrophy, autosomal recessive, 2 (DSMA2) [MIM:605726]
Q99720	SGMR1_HUMAN	2	Q	P	Polymorphism	-
Q99720	SGMR1_HUMAN	102	E	Q	Disease	Amyotrophic lateral sclerosis 16, juvenile (ALS16) [MIM:614373]
Q99720	SGMR1_HUMAN	211	R	Q	Polymorphism	-
Q99726	ZNT3_HUMAN	298	R	C	Polymorphism	-
Q99728	BARD1_HUMAN	695	V	L	Unclassified	A breast cancer sample
Q99728	BARD1_HUMAN	186	S	G	Polymorphism	-
Q99728	BARD1_HUMAN	761	S	N	Unclassified	An uterine cancer sample
Q99728	BARD1_HUMAN	24	P	S	Polymorphism	-
Q99728	BARD1_HUMAN	241	S	C	Polymorphism	-
Q99728	BARD1_HUMAN	658	R	C	Polymorphism	-
Q99728	BARD1_HUMAN	728	S	F	Polymorphism	-
Q99728	BARD1_HUMAN	645	C	R	Polymorphism	-
Q99728	BARD1_HUMAN	153	K	E	Polymorphism	-
Q99728	BARD1_HUMAN	564	Q	H	Unclassified	An ovarian clear cell adenocarcinoma
Q99728	BARD1_HUMAN	378	R	S	Polymorphism	-
Q99728	BARD1_HUMAN	557	C	S	Polymorphism	-
Q99728	BARD1_HUMAN	507	V	M	Polymorphism	-
Q99732	LITAF_HUMAN	115	T	N	Disease	Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]
Q99732	LITAF_HUMAN	49	T	M	Disease	Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]
Q99732	LITAF_HUMAN	122	L	V	Disease	Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]
Q99732	LITAF_HUMAN	23	Y	H	Unclassified	One EMPD primary tumor
Q99732	LITAF_HUMAN	92	I	V	Polymorphism	-
Q99732	LITAF_HUMAN	116	W	G	Disease	Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]
Q99732	LITAF_HUMAN	112	G	S	Disease	Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]
Q99735	MGST2_HUMAN	101	A	V	Polymorphism	-
Q99741	CDC6_HUMAN	441	V	I	Polymorphism	-
Q99741	CDC6_HUMAN	378	R	H	Polymorphism	-
Q99741	CDC6_HUMAN	238	T	A	Polymorphism	-
Q99741	CDC6_HUMAN	323	T	R	Disease	Meier-Gorlin syndrome 5 (MGORS5) [MIM:613805]
Q99741	CDC6_HUMAN	295	D	N	Polymorphism	-
Q99741	CDC6_HUMAN	299	T	M	Polymorphism	-
Q99743	NPAS2_HUMAN	471	S	L	Polymorphism	-
Q99743	NPAS2_HUMAN	394	T	A	Polymorphism	-
Q99747	SNAG_HUMAN	281	K	N	Polymorphism	-
Q99747	SNAG_HUMAN	92	P	S	Polymorphism	-
Q99748	NRTN_HUMAN	96	A	S	Polymorphism	-
Q99758	ABCA3_HUMAN	1553	L	P	Disease	Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
Q99758	ABCA3_HUMAN	290	L	M	Unclassified	A breast cancer sample
Q99758	ABCA3_HUMAN	766	P	S	Polymorphism	-
Q99758	ABCA3_HUMAN	568	N	D	Disease	Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
Q99758	ABCA3_HUMAN	801	E	D	Unclassified	A breast cancer sample
Q99758	ABCA3_HUMAN	140	N	H	Polymorphism	-
Q99758	ABCA3_HUMAN	1591	Q	P	Disease	Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
Q99758	ABCA3_HUMAN	1069	H	Q	Unclassified	A breast cancer sample
Q99758	ABCA3_HUMAN	101	L	P	Disease	Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
Q99759	M3K3_HUMAN	325	A	G	Polymorphism	-
Q99759	M3K3_HUMAN	435	A	G	Polymorphism	-
Q99759	M3K3_HUMAN	281	V	M	Polymorphism	-
Q99766	ATP5S_HUMAN	18	P	L	Polymorphism	-
Q99767	APBA2_HUMAN	311	L	P	Polymorphism	-
Q99795	GPA33_HUMAN	165	K	N	Polymorphism	-
Q99795	GPA33_HUMAN	20	D	N	Polymorphism	-
Q99797	MIPEP_HUMAN	488	S	G	Polymorphism	-
Q99797	MIPEP_HUMAN	343	K	E	Disease	Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228]
Q99797	MIPEP_HUMAN	512	H	D	Unclassified	Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228]
Q99797	MIPEP_HUMAN	306	L	F	Disease	Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228]
Q99797	MIPEP_HUMAN	71	L	Q	Disease	Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228]
Q99797	MIPEP_HUMAN	582	L	R	Unclassified	Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228]
Q99797	MIPEP_HUMAN	453	R	H	Polymorphism	-
Q99797	MIPEP_HUMAN	137	A	V	Polymorphism	-
Q99797	MIPEP_HUMAN	340	R	Q	Polymorphism	-
Q99798	ACON_HUMAN	697	T	N	Unclassified	A breast cancer sample
Q99798	ACON_HUMAN	74	L	V	Disease	Optic atrophy 9 (OPA9) [MIM:616289]
Q99798	ACON_HUMAN	661	G	R	Disease	Optic atrophy 9 (OPA9) [MIM:616289]
Q99798	ACON_HUMAN	259	G	D	Disease	Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
Q99798	ACON_HUMAN	736	K	N	Disease	Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
Q99798	ACON_HUMAN	112	S	R	Disease	Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
Q99798	ACON_HUMAN	768	A	S	Polymorphism	-
Q99801	NKX31_HUMAN	52	R	C	Polymorphism	-
Q99807	COQ7_HUMAN	141	V	E	Disease	Coenzyme Q10 deficiency, primary, 8 (COQ10D8) [MIM:616733]
Q99807	COQ7_HUMAN	103	T	M	Polymorphism	-
Q99808	S29A1_HUMAN	391	E	K	Polymorphism	-
Q99808	S29A1_HUMAN	216	I	T	Polymorphism	-
Q99808	S29A1_HUMAN	455	I	V	Unclassified	A colorectal cancer sample
Q99808	S29A1_HUMAN	293	A	T	Unclassified	A colorectal cancer sample
Q99814	EPAS1_HUMAN	537	G	W	Disease	Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q99814	EPAS1_HUMAN	537	G	R	Disease	Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q99814	EPAS1_HUMAN	766	T	P	Polymorphism	-
Q99814	EPAS1_HUMAN	535	M	V	Disease	Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q99814	EPAS1_HUMAN	785	P	T	Polymorphism	-
Q99814	EPAS1_HUMAN	535	M	T	Disease	Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q99814	EPAS1_HUMAN	534	P	L	Disease	Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q99814	EPAS1_HUMAN	540	F	L	Disease	Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q99816	TS101_HUMAN	167	M	I	Polymorphism	-
Q99828	CIB1_HUMAN	44	S	T	Polymorphism	-
Q99828	CIB1_HUMAN	106	I	T	Polymorphism	-
Q99829	CPNE1_HUMAN	347	P	R	Polymorphism	-
Q99829	CPNE1_HUMAN	211	Q	R	Polymorphism	-
Q99829	CPNE1_HUMAN	535	P	L	Polymorphism	-
Q99832	TCPH_HUMAN	259	T	A	Polymorphism	-
Q99835	SMO_HUMAN	473	D	H	Polymorphism	-
Q99835	SMO_HUMAN	412	L	F	Disease	Curry-Jones syndrome (CRJS) [MIM:601707]
Q99835	SMO_HUMAN	562	R	Q	Unclassified	Basal cell carcinoma samples
Q99835	SMO_HUMAN	535	W	L	Unclassified	Basal cell carcinoma
Q99836	MYD88_HUMAN	136	S	I	Unclassified	-
Q99836	MYD88_HUMAN	178	M	I	Unclassified	-
Q99836	MYD88_HUMAN	205	W	R	Unclassified	-
Q99836	MYD88_HUMAN	196	R	C	Disease	MYD88 deficiency (MYD88D) [MIM:612260]
Q99836	MYD88_HUMAN	230	S	N	Unclassified	-
Q99836	MYD88_HUMAN	39	V	M	Unclassified	-
Q99836	MYD88_HUMAN	98	R	C	Unclassified	-
Q99836	MYD88_HUMAN	209	S	R	Unclassified	-
Q99836	MYD88_HUMAN	93	L	P	Disease	MYD88 deficiency (MYD88D) [MIM:612260]
Q99836	MYD88_HUMAN	204	V	F	Unclassified	-
Q99836	MYD88_HUMAN	219	M	T	Unclassified	-
Q99836	MYD88_HUMAN	252	L	P	Unclassified	-
Q99836	MYD88_HUMAN	207	I	T	Unclassified	-
Q99836	MYD88_HUMAN	281	T	P	Unclassified	-
Q99836	MYD88_HUMAN	206	S	C	Unclassified	-
Q99836	MYD88_HUMAN	34	S	Y	Polymorphism	-
Q99836	MYD88_HUMAN	136	S	G	Unclassified	-
Q99848	EBP2_HUMAN	223	R	H	Polymorphism	-
Q99856	ARI3A_HUMAN	320	K	E	Polymorphism	-
Q99856	ARI3A_HUMAN	556	G	S	Polymorphism	-
Q99856	ARI3A_HUMAN	36	P	H	Polymorphism	-
Q99873	ANM1_HUMAN	88	K	M	Polymorphism	-
Q99873	ANM1_HUMAN	168	L	F	Polymorphism	-
Q99879	H2B1M_HUMAN	110	H	Y	Unclassified	A colorectal cancer sample
Q99880	H2B1L_HUMAN	4	L	P	Polymorphism	-
Q99884	SC6A7_HUMAN	345	L	V	Polymorphism	-
Q99895	CTRC_HUMAN	35	D	H	Polymorphism	-
Q99895	CTRC_HUMAN	73	A	T	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
Q99895	CTRC_HUMAN	172	K	E	Polymorphism	-
Q99895	CTRC_HUMAN	80	R	W	Polymorphism	-
Q99895	CTRC_HUMAN	239	S	C	Unclassified	-
Q99895	CTRC_HUMAN	48	Q	R	Polymorphism	-
Q99895	CTRC_HUMAN	217	G	R	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
Q99895	CTRC_HUMAN	218	G	S	Polymorphism	-
Q99895	CTRC_HUMAN	217	G	S	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
Q99895	CTRC_HUMAN	209	I	M	Polymorphism	-
Q99895	CTRC_HUMAN	235	V	I	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
Q99895	CTRC_HUMAN	250	V	E	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
Q99895	CTRC_HUMAN	239	S	A	Unclassified	-
Q99895	CTRC_HUMAN	263	N	S	Unclassified	-
Q99895	CTRC_HUMAN	37	R	Q	Polymorphism	-
Q99895	CTRC_HUMAN	246	R	C	Polymorphism	-
Q99895	CTRC_HUMAN	151	K	N	Unclassified	-
Q99895	CTRC_HUMAN	247	K	E	Unclassified	-
Q99895	CTRC_HUMAN	257	A	T	Unclassified	-
Q99895	CTRC_HUMAN	249	P	L	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
Q99895	CTRC_HUMAN	220	L	R	Unclassified	-
Q99895	CTRC_HUMAN	29	R	Q	Unclassified	-
Q99895	CTRC_HUMAN	225	E	A	Polymorphism	-
Q99895	CTRC_HUMAN	200	M	V	Unclassified	-
Q99895	CTRC_HUMAN	35	D	Y	Unclassified	-
Q99895	CTRC_HUMAN	178	Q	R	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
Q99895	CTRC_HUMAN	155	C	Y	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
Q99895	CTRC_HUMAN	61	G	R	Unclassified	-
Q99895	CTRC_HUMAN	18	G	R	Unclassified	-
Q99895	CTRC_HUMAN	35	D	N	Polymorphism	-
Q99895	CTRC_HUMAN	225	E	K	Unclassified	-
Q99895	CTRC_HUMAN	254	R	Q	Unclassified	-
Q99895	CTRC_HUMAN	227	G	S	Polymorphism	-
Q99895	CTRC_HUMAN	32	G	V	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
Q99895	CTRC_HUMAN	254	R	W	Disease	Pancreatitis, hereditary (PCTT) [MIM:167800]
Q99895	CTRC_HUMAN	162	R	H	Unclassified	-
Q99895	CTRC_HUMAN	260	D	N	Polymorphism	-
Q99928	GBRG3_HUMAN	352	T	A	Unclassified	-
Q99932	SPAG8_HUMAN	226	P	L	Polymorphism	-
Q99932	SPAG8_HUMAN	69	A	T	Polymorphism	-
Q99943	PLCA_HUMAN	30	P	S	Polymorphism	-
Q99944	EGFL8_HUMAN	277	G	C	Polymorphism	-
Q99944	EGFL8_HUMAN	204	A	E	Polymorphism	-
Q99944	EGFL8_HUMAN	86	R	K	Polymorphism	-
Q99946	PRRT1_HUMAN	94	A	T	Unclassified	A breast cancer sample
Q99952	PTN18_HUMAN	193	M	V	Polymorphism	-
Q99954	SMR3A_HUMAN	132	P	L	Polymorphism	-
Q99954	SMR3A_HUMAN	42	C	R	Polymorphism	-
Q99954	SMR3A_HUMAN	28	G	R	Polymorphism	-
Q99958	FOXC2_HUMAN	125	S	L	Disease	Lymphedema-distichiasis syndrome (LPHDST) [MIM:153400]
Q99958	FOXC2_HUMAN	191	S	F	Polymorphism	-
Q99959	PKP2_HUMAN	112	K	N	Polymorphism	-
Q99959	PKP2_HUMAN	59	Q	L	Unclassified	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99959	PKP2_HUMAN	372	A	P	Polymorphism	-
Q99959	PKP2_HUMAN	787	L	F	Disease	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99959	PKP2_HUMAN	26	D	N	Polymorphism	-
Q99959	PKP2_HUMAN	526	T	M	Polymorphism	-
Q99959	PKP2_HUMAN	631	Y	C	Disease	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99959	PKP2_HUMAN	489	G	R	Unclassified	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99959	PKP2_HUMAN	169	S	G	Disease	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99959	PKP2_HUMAN	76	N	S	Polymorphism	-
Q99959	PKP2_HUMAN	424	F	S	Disease	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99959	PKP2_HUMAN	140	S	F	Polymorphism	-
Q99959	PKP2_HUMAN	531	I	S	Polymorphism	-
Q99959	PKP2_HUMAN	58	E	D	Polymorphism	-
Q99959	PKP2_HUMAN	137	E	K	Disease	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99959	PKP2_HUMAN	673	G	V	Unclassified	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99959	PKP2_HUMAN	615	S	F	Disease	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99959	PKP2_HUMAN	276	P	S	Polymorphism	-
Q99959	PKP2_HUMAN	195	A	V	Polymorphism	-
Q99959	PKP2_HUMAN	490	R	W	Polymorphism	-
Q99959	PKP2_HUMAN	587	V	I	Polymorphism	-
Q99959	PKP2_HUMAN	796	C	R	Disease	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99959	PKP2_HUMAN	366	L	P	Polymorphism	-
Q99959	PKP2_HUMAN	338	T	A	Polymorphism	-
Q99959	PKP2_HUMAN	654	K	Q	Disease	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99959	PKP2_HUMAN	70	S	I	Polymorphism	-
Q99959	PKP2_HUMAN	62	Q	K	Unclassified	Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
Q99965	ADAM2_HUMAN	10	G	W	Polymorphism	-
Q99966	CITE1_HUMAN	96	H	Q	Polymorphism	-
Q99972	MYOC_HUMAN	337	Q	E	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	380	D	A	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	189	R	Q	Polymorphism	-
Q99972	MYOC_HUMAN	323	E	K	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	342	R	K	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	480	N	K	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	361	P	S	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	380	D	G	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	293	T	K	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	499	I	F	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	380	D	H	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	360	I	N	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	73	N	S	Polymorphism	-
Q99972	MYOC_HUMAN	4	F	S	Polymorphism	-
Q99972	MYOC_HUMAN	363	A	T	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	274	P	R	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	82	R	H	Polymorphism	-
Q99972	MYOC_HUMAN	345	I	M	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	12	G	R	Polymorphism	-
Q99972	MYOC_HUMAN	422	R	C	Polymorphism	-
Q99972	MYOC_HUMAN	402	V	I	Polymorphism	-
Q99972	MYOC_HUMAN	352	E	K	Unclassified	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	341	S	P	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	203	S	F	Polymorphism	-
Q99972	MYOC_HUMAN	82	R	C	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	433	C	R	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	19	Q	H	Polymorphism	-
Q99972	MYOC_HUMAN	426	V	F	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	300	E	K	Unclassified	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	481	P	L	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	445	A	V	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	450	N	D	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	448	T	P	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	471	Y	C	Unclassified	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	414	E	K	Polymorphism	-
Q99972	MYOC_HUMAN	9	C	S	Polymorphism	-
Q99972	MYOC_HUMAN	393	S	R	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	76	R	K	Polymorphism	-
Q99972	MYOC_HUMAN	437	Y	H	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	369	F	L	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	425	S	P	Unclassified	-
Q99972	MYOC_HUMAN	377	T	K	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	215	L	P	Polymorphism	-
Q99972	MYOC_HUMAN	423	K	E	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	77	D	E	Polymorphism	-
Q99972	MYOC_HUMAN	25	C	R	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	499	I	S	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	353	T	I	Unclassified	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	286	W	R	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	377	T	M	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	329	V	M	Polymorphism	-
Q99972	MYOC_HUMAN	473	Y	C	Unclassified	-
Q99972	MYOC_HUMAN	470	R	C	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	367	G	R	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	48	Q	H	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
Q99972	MYOC_HUMAN	370	P	L	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	272	R	G	Unclassified	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	500	K	R	Polymorphism	-
Q99972	MYOC_HUMAN	57	N	S	Polymorphism	-
Q99972	MYOC_HUMAN	337	Q	R	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	393	S	N	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	398	K	R	Polymorphism	-
Q99972	MYOC_HUMAN	438	T	I	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	208	D	E	Unclassified	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	244	G	V	Unclassified	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	422	R	H	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	246	G	R	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	53	V	A	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	158	R	Q	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	261	E	K	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	477	I	N	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	470	R	H	Polymorphism	-
Q99972	MYOC_HUMAN	252	G	R	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	434	G	S	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	380	D	N	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	502	S	P	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	126	R	W	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	427	A	T	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	364	G	V	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	57	N	D	Polymorphism	-
Q99972	MYOC_HUMAN	477	I	S	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	251	V	A	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	245	C	Y	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	16	P	L	Polymorphism	-
Q99972	MYOC_HUMAN	17	A	S	Polymorphism	-
Q99972	MYOC_HUMAN	465	I	M	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	399	G	V	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	481	P	T	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99972	MYOC_HUMAN	95	L	P	Polymorphism	-
Q99972	MYOC_HUMAN	495	V	I	Polymorphism	-
Q99972	MYOC_HUMAN	48	Q	H	Disease	Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
Q99973	TEP1_HUMAN	1351	R	Q	Polymorphism	-
Q99973	TEP1_HUMAN	1468	C	Y	Polymorphism	-
Q99973	TEP1_HUMAN	1772	R	Q	Polymorphism	-
Q99973	TEP1_HUMAN	434	K	N	Polymorphism	-
Q99973	TEP1_HUMAN	1408	G	R	Polymorphism	-
Q99973	TEP1_HUMAN	2310	A	S	Polymorphism	-
Q99973	TEP1_HUMAN	2486	I	M	Polymorphism	-
Q99973	TEP1_HUMAN	116	S	P	Polymorphism	-
Q99973	TEP1_HUMAN	933	R	H	Polymorphism	-
Q99973	TEP1_HUMAN	1661	R	Q	Polymorphism	-
Q99973	TEP1_HUMAN	553	A	G	Polymorphism	-
Q99973	TEP1_HUMAN	368	K	R	Polymorphism	-
Q99973	TEP1_HUMAN	1195	S	P	Polymorphism	-
Q99973	TEP1_HUMAN	1155	R	Q	Polymorphism	-
Q99973	TEP1_HUMAN	2562	H	R	Polymorphism	-
Q99973	TEP1_HUMAN	1055	R	C	Polymorphism	-
Q99973	TEP1_HUMAN	1447	S	T	Polymorphism	-
Q99973	TEP1_HUMAN	510	S	L	Polymorphism	-
Q99973	TEP1_HUMAN	2214	V	I	Polymorphism	-
Q99973	TEP1_HUMAN	137	T	M	Polymorphism	-
Q99973	TEP1_HUMAN	307	N	K	Polymorphism	-
Q99983	OMD_HUMAN	282	I	T	Polymorphism	-
Q99983	OMD_HUMAN	353	C	W	Polymorphism	-
Q99983	OMD_HUMAN	200	D	G	Polymorphism	-
Q99983	OMD_HUMAN	221	S	N	Polymorphism	-
Q99983	OMD_HUMAN	212	E	G	Polymorphism	-
Q99985	SEM3C_HUMAN	337	V	M	Polymorphism	-
Q99985	SEM3C_HUMAN	302	F	S	Polymorphism	-
Q99988	GDF15_HUMAN	48	S	T	Polymorphism	-
Q99988	GDF15_HUMAN	9	V	L	Polymorphism	-
Q99988	GDF15_HUMAN	202	H	D	Polymorphism	-
Q99990	VGLL1_HUMAN	59	T	I	Polymorphism	-
Q99996	AKAP9_HUMAN	2409	M	I	Unclassified	A colorectal cancer sample
Q99996	AKAP9_HUMAN	3297	E	Q	Unclassified	A breast cancer sample
Q99996	AKAP9_HUMAN	3444	Q	R	Polymorphism	-
Q99996	AKAP9_HUMAN	1570	S	L	Disease	Long QT syndrome 11 (LQT11) [MIM:611820]
Q99996	AKAP9_HUMAN	463	M	I	Polymorphism	-
Q99996	AKAP9_HUMAN	3614	M	V	Polymorphism	-
Q99996	AKAP9_HUMAN	2792	N	S	Polymorphism	-
Q99996	AKAP9_HUMAN	2979	P	S	Polymorphism	-
Q99996	AKAP9_HUMAN	2484	K	R	Polymorphism	-
Q99999	G3ST1_HUMAN	29	V	M	Polymorphism	-
Q9BPU9	B9D2_HUMAN	74	P	S	Unclassified	Joubert syndrome 34 (JBTS34) [MIM:614175]
Q9BPU9	B9D2_HUMAN	155	G	S	Unclassified	Joubert syndrome 34 (JBTS34) [MIM:614175]
Q9BPU9	B9D2_HUMAN	36	L	P	Unclassified	Joubert syndrome 34 (JBTS34) [MIM:614175]
Q9BPU9	B9D2_HUMAN	11	I	M	Polymorphism	-
Q9BPU9	B9D2_HUMAN	101	S	R	Disease	Meckel syndrome 10 (MKS10) [MIM:614175]
Q9BPV8	P2Y13_HUMAN	179	T	M	Polymorphism	-
Q9BPW4	APOL4_HUMAN	319	A	E	Polymorphism	-
Q9BPW4	APOL4_HUMAN	326	S	L	Polymorphism	-
Q9BPW4	APOL4_HUMAN	223	R	H	Polymorphism	-
Q9BPW4	APOL4_HUMAN	12	V	L	Polymorphism	-
Q9BPW4	APOL4_HUMAN	9	I	V	Polymorphism	-
Q9BPW4	APOL4_HUMAN	159	M	V	Polymorphism	-
Q9BPW8	NIPS1_HUMAN	245	E	K	Polymorphism	-
Q9BPW9	DHRS9_HUMAN	286	D	H	Polymorphism	-
Q9BPX1	DHB14_HUMAN	31	N	D	Polymorphism	-
Q9BPX1	DHB14_HUMAN	130	R	W	Polymorphism	-
Q9BPX3	CND3_HUMAN	64	A	P	Polymorphism	-
Q9BPX3	CND3_HUMAN	581	M	I	Polymorphism	-
Q9BPX3	CND3_HUMAN	265	M	T	Unclassified	A colorectal cancer sample
Q9BPX7	CG025_HUMAN	265	G	E	Polymorphism	-
Q9BQ04	RBM4B_HUMAN	93	E	V	Polymorphism	-
Q9BQ08	RETNB_HUMAN	20	P	L	Polymorphism	-
Q9BQ16	TICN3_HUMAN	112	I	V	Polymorphism	-
Q9BQ31	KCNS3_HUMAN	225	V	L	Polymorphism	-
Q9BQ31	KCNS3_HUMAN	450	T	A	Polymorphism	-
Q9BQ50	TREX2_HUMAN	180	R	C	Polymorphism	-
Q9BQ51	PD1L2_HUMAN	229	F	S	Polymorphism	-
Q9BQ51	PD1L2_HUMAN	241	I	T	Polymorphism	-
Q9BQ51	PD1L2_HUMAN	58	S	T	Polymorphism	-
Q9BQ52	RNZ2_HUMAN	436	D	N	Polymorphism	-
Q9BQ52	RNZ2_HUMAN	541	A	T	Disease	Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
Q9BQ52	RNZ2_HUMAN	52	S	F	Polymorphism	-
Q9BQ52	RNZ2_HUMAN	627	S	L	Polymorphism	-
Q9BQ52	RNZ2_HUMAN	211	R	Q	Disease	Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
Q9BQ52	RNZ2_HUMAN	520	T	I	Disease	Combined oxidative phosphorylation deficiency 17 (COXPD17) [MIM:615440]
Q9BQ52	RNZ2_HUMAN	423	L	F	Disease	Combined oxidative phosphorylation deficiency 17 (COXPD17) [MIM:615440]
Q9BQ52	RNZ2_HUMAN	781	R	H	Disease	Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
Q9BQ52	RNZ2_HUMAN	622	E	V	Disease	Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
Q9BQ52	RNZ2_HUMAN	154	F	L	Disease	Combined oxidative phosphorylation deficiency 17 (COXPD17) [MIM:615440]
Q9BQ52	RNZ2_HUMAN	487	G	R	Disease	Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
Q9BQ52	RNZ2_HUMAN	806	G	R	Disease	Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
Q9BQ52	RNZ2_HUMAN	217	S	L	Disease	Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
Q9BQ65	USB1_HUMAN	115	R	K	Polymorphism	-
Q9BQ65	USB1_HUMAN	250	Q	E	Polymorphism	-
Q9BQ67	GRWD1_HUMAN	319	R	Q	Polymorphism	-
Q9BQ75	CMS1_HUMAN	166	V	I	Polymorphism	-
Q9BQ75	CMS1_HUMAN	138	E	G	Polymorphism	-
Q9BQ89	F110A_HUMAN	284	L	I	Polymorphism	-
Q9BQ95	ECSIT_HUMAN	278	R	C	Polymorphism	-
Q9BQ95	ECSIT_HUMAN	406	G	R	Polymorphism	-
Q9BQA1	MEP50_HUMAN	48	S	I	Polymorphism	-
Q9BQA5	HINFP_HUMAN	493	A	V	Polymorphism	-
Q9BQA5	HINFP_HUMAN	4	P	S	Polymorphism	-
Q9BQA5	HINFP_HUMAN	78	S	C	Polymorphism	-
Q9BQA5	HINFP_HUMAN	352	K	R	Polymorphism	-
Q9BQB4	SOST_HUMAN	167	C	R	Disease	Sclerosteosis 1 (SOST1) [MIM:269500]
Q9BQB4	SOST_HUMAN	21	V	M	Disease	Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860]
Q9BQB4	SOST_HUMAN	21	V	L	Disease	Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860]
Q9BQB6	VKOR1_HUMAN	71	G	A	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	128	L	R	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	26	A	T	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	66	V	G	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	123	I	N	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	36	D	Y	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	52	S	W	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	98	R	W	Disease	Combined deficiency of vitamin K-dependent clotting factors 2 (VKCFD2) [MIM:607473]
Q9BQB6	VKOR1_HUMAN	36	D	G	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	56	S	F	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	77	N	Y	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	139	Y	H	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	77	N	S	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	58	R	G	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	29	V	L	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	66	V	M	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	59	W	L	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	59	W	C	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQB6	VKOR1_HUMAN	45	V	A	Disease	Coumarin resistance (CMRES) [MIM:122700]
Q9BQD3	KXDL1_HUMAN	157	P	A	Polymorphism	-
Q9BQE5	APOL2_HUMAN	182	R	C	Polymorphism	-
Q9BQE5	APOL2_HUMAN	245	I	V	Polymorphism	-
Q9BQF6	SENP7_HUMAN	612	Q	H	Polymorphism	-
Q9BQF6	SENP7_HUMAN	79	K	Q	Polymorphism	-
Q9BQG0	MBB1A_HUMAN	1208	M	L	Polymorphism	-
Q9BQG0	MBB1A_HUMAN	8	Q	E	Polymorphism	-
Q9BQG0	MBB1A_HUMAN	958	H	P	Polymorphism	-
Q9BQG0	MBB1A_HUMAN	680	H	Y	Polymorphism	-
Q9BQG1	SYT3_HUMAN	474	S	F	Unclassified	A breast cancer sample
Q9BQG2	NUD12_HUMAN	235	I	V	Polymorphism	-
Q9BQG2	NUD12_HUMAN	129	K	E	Polymorphism	-
Q9BQI3	E2AK1_HUMAN	132	K	T	Polymorphism	-
Q9BQI3	E2AK1_HUMAN	117	R	T	Polymorphism	-
Q9BQI3	E2AK1_HUMAN	558	K	R	Polymorphism	-
Q9BQI3	E2AK1_HUMAN	292	F	L	Polymorphism	-
Q9BQI3	E2AK1_HUMAN	145	R	H	Polymorphism	-
Q9BQI3	E2AK1_HUMAN	139	P	S	Polymorphism	-
Q9BQI3	E2AK1_HUMAN	134	R	K	Polymorphism	-
Q9BQI3	E2AK1_HUMAN	202	G	S	Unclassified	A lung adenocarcinoma sample
Q9BQI3	E2AK1_HUMAN	319	L	H	Polymorphism	-
Q9BQI5	SGIP1_HUMAN	161	P	Q	Polymorphism	-
Q9BQI5	SGIP1_HUMAN	575	K	E	Polymorphism	-
Q9BQI5	SGIP1_HUMAN	131	K	R	Polymorphism	-
Q9BQI5	SGIP1_HUMAN	112	E	Q	Polymorphism	-
Q9BQI6	SLF1_HUMAN	288	S	R	Polymorphism	-
Q9BQI7	PSD2_HUMAN	363	G	R	Polymorphism	-
Q9BQI7	PSD2_HUMAN	31	R	Q	Polymorphism	-
Q9BQI7	PSD2_HUMAN	51	R	M	Polymorphism	-
Q9BQK8	LPIN3_HUMAN	679	Q	H	Polymorphism	-
Q9BQL6	FERM1_HUMAN	526	R	K	Polymorphism	-
Q9BQL6	FERM1_HUMAN	241	V	A	Polymorphism	-
Q9BQL6	FERM1_HUMAN	160	I	T	Polymorphism	-
Q9BQL6	FERM1_HUMAN	559	W	R	Disease	Kindler syndrome (KNDLRS) [MIM:173650]
Q9BQL6	FERM1_HUMAN	534	A	T	Polymorphism	-
Q9BQL6	FERM1_HUMAN	400	S	P	Disease	Kindler syndrome (KNDLRS) [MIM:173650]
Q9BQM9	CT144_HUMAN	62	Q	R	Polymorphism	-
Q9BQN1	FA83C_HUMAN	134	E	K	Polymorphism	-
Q9BQN1	FA83C_HUMAN	645	R	C	Polymorphism	-
Q9BQN1	FA83C_HUMAN	621	R	Q	Polymorphism	-
Q9BQN1	FA83C_HUMAN	600	Y	H	Polymorphism	-
Q9BQP7	MGME1_HUMAN	233	Y	C	Disease	Mitochondrial DNA depletion syndrome 11 (MTDPS11) [MIM:615084]
Q9BQP7	MGME1_HUMAN	15	S	C	Polymorphism	-
Q9BQP9	BPIA3_HUMAN	41	A	E	Polymorphism	-
Q9BQP9	BPIA3_HUMAN	136	V	I	Polymorphism	-
Q9BQQ3	GORS1_HUMAN	425	T	M	Polymorphism	-
Q9BQS6	HSPB9_HUMAN	2	Q	P	Polymorphism	-
Q9BQS7	HEPH_HUMAN	595	A	T	Polymorphism	-
Q9BQS8	FYCO1_HUMAN	1001	N	D	Polymorphism	-
Q9BQS8	FYCO1_HUMAN	679	A	V	Polymorphism	-
Q9BQS8	FYCO1_HUMAN	447	R	C	Polymorphism	-
Q9BQS8	FYCO1_HUMAN	250	R	Q	Polymorphism	-
Q9BQS8	FYCO1_HUMAN	994	E	K	Polymorphism	-
Q9BQS8	FYCO1_HUMAN	321	G	A	Polymorphism	-
Q9BQS8	FYCO1_HUMAN	282	R	H	Polymorphism	-
Q9BQS8	FYCO1_HUMAN	381	T	M	Polymorphism	-
Q9BQS8	FYCO1_HUMAN	1376	L	P	Disease	Cataract 18 (CTRCT18) [MIM:610019]
Q9BQT8	ODC_HUMAN	299	W	C	Polymorphism	-
Q9BQT9	CSTN3_HUMAN	874	H	Y	Unclassified	A colorectal cancer sample
Q9BQT9	CSTN3_HUMAN	209	S	G	Polymorphism	-
Q9BQY4	RHXF2_HUMAN	68	G	R	Unclassified	-
Q9BQY4	RHXF2_HUMAN	235	D	G	Unclassified	-
Q9BQY4	RHXF2_HUMAN	176	L	F	Unclassified	-
Q9BQY4	RHXF2_HUMAN	227	G	R	Unclassified	-
Q9BR09	NEUL2_HUMAN	211	E	K	Polymorphism	-
Q9BR10	SPT25_HUMAN	94	P	L	Polymorphism	-
Q9BR11	ZSWM1_HUMAN	101	R	Q	Polymorphism	-
Q9BR26	OCSTP_HUMAN	565	P	S	Polymorphism	-
Q9BR39	JPH2_HUMAN	101	S	R	Disease	Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]
Q9BR39	JPH2_HUMAN	141	Y	H	Disease	Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]
Q9BR39	JPH2_HUMAN	436	R	C	Polymorphism	-
Q9BR39	JPH2_HUMAN	169	E	K	Disease	-
Q9BR39	JPH2_HUMAN	161	T	K	Disease	Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]
Q9BR39	JPH2_HUMAN	165	S	F	Disease	Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]
Q9BR39	JPH2_HUMAN	505	G	S	Polymorphism	-
Q9BR39	JPH2_HUMAN	405	A	S	Unclassified	Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]
Q9BR39	JPH2_HUMAN	396	A	T	Polymorphism	-
Q9BR39	JPH2_HUMAN	85	E	K	Disease	-
Q9BR76	COR1B_HUMAN	476	R	L	Polymorphism	-
Q9BR76	COR1B_HUMAN	411	V	M	Unclassified	A colorectal cancer sample
Q9BR77	CCD77_HUMAN	335	M	T	Polymorphism	-
Q9BR77	CCD77_HUMAN	25	S	R	Polymorphism	-
Q9BR84	ZN559_HUMAN	251	T	N	Polymorphism	-
Q9BRB3	PIGQ_HUMAN	592	C	R	Polymorphism	-
Q9BRB3	PIGQ_HUMAN	14	T	A	Polymorphism	-
Q9BRB3	PIGQ_HUMAN	668	C	Y	Polymorphism	-
Q9BRB3	PIGQ_HUMAN	668	C	R	Polymorphism	-
Q9BRD0	BUD13_HUMAN	148	P	L	Polymorphism	-
Q9BRD0	BUD13_HUMAN	120	R	C	Polymorphism	-
Q9BRD0	BUD13_HUMAN	388	S	C	Polymorphism	-
Q9BRD0	BUD13_HUMAN	242	R	I	Polymorphism	-
Q9BRF8	CPPED_HUMAN	241	K	R	Polymorphism	-
Q9BRF8	CPPED_HUMAN	290	H	P	Polymorphism	-
Q9BRF8	CPPED_HUMAN	86	V	I	Polymorphism	-
Q9BRF8	CPPED_HUMAN	19	A	D	Polymorphism	-
Q9BRG1	VPS25_HUMAN	76	I	V	Polymorphism	-
Q9BRG2	SH23A_HUMAN	265	E	G	Unclassified	A breast cancer sample
Q9BRG2	SH23A_HUMAN	223	D	G	Polymorphism	-
Q9BRG2	SH23A_HUMAN	32	N	D	Polymorphism	-
Q9BRI3	ZNT2_HUMAN	87	G	R	Disease	Zinc deficiency, transient neonatal (TNZD) [MIM:608118]
Q9BRI3	ZNT2_HUMAN	54	H	R	Disease	Zinc deficiency, transient neonatal (TNZD) [MIM:608118]
Q9BRJ2	RM45_HUMAN	298	G	V	Polymorphism	-
Q9BRJ9	MESP1_HUMAN	53	A	P	Polymorphism	-
Q9BRK0	REEP2_HUMAN	72	F	Y	Disease	Spastic paraplegia 72 (SPG72) [MIM:615625]
Q9BRK0	REEP2_HUMAN	36	V	E	Disease	Spastic paraplegia 72 (SPG72) [MIM:615625]
Q9BRK3	MXRA8_HUMAN	396	D	N	Polymorphism	-
Q9BRK4	LZTS2_HUMAN	299	R	W	Polymorphism	-
Q9BRK4	LZTS2_HUMAN	291	G	R	Unclassified	A breast cancer sample
Q9BRK4	LZTS2_HUMAN	121	R	H	Unclassified	A colorectal cancer sample
Q9BRK5	CAB45_HUMAN	50	N	D	Polymorphism	-
Q9BRK5	CAB45_HUMAN	148	A	T	Unclassified	A colorectal cancer sample
Q9BRP4	PAAF1_HUMAN	53	A	V	Polymorphism	-
Q9BRP4	PAAF1_HUMAN	139	C	S	Polymorphism	-
Q9BRP4	PAAF1_HUMAN	209	A	G	Polymorphism	-
Q9BRP7	FDXA1_HUMAN	87	I	N	Polymorphism	-
Q9BRP7	FDXA1_HUMAN	475	T	P	Polymorphism	-
Q9BRP7	FDXA1_HUMAN	28	T	A	Polymorphism	-
Q9BRP8	PYM1_HUMAN	66	E	Q	Polymorphism	-
Q9BRQ3	NUD22_HUMAN	263	L	P	Polymorphism	-
Q9BRQ3	NUD22_HUMAN	129	T	R	Polymorphism	-
Q9BRQ3	NUD22_HUMAN	36	G	C	Polymorphism	-
Q9BRQ3	NUD22_HUMAN	260	Q	R	Polymorphism	-
Q9BRQ4	CF300_HUMAN	259	H	R	Disease	Ciliary dyskinesia, primary, 38 (CILD38) [MIM:618063]
Q9BRQ6	MIC25_HUMAN	95	A	S	Polymorphism	-
Q9BRQ8	AIFM2_HUMAN	135	M	T	Polymorphism	-
Q9BRQ8	AIFM2_HUMAN	288	D	N	Polymorphism	-
Q9BRR0	ZKSC3_HUMAN	34	F	L	Polymorphism	-
Q9BRR0	ZKSC3_HUMAN	200	K	E	Polymorphism	-
Q9BRR0	ZKSC3_HUMAN	246	H	Q	Polymorphism	-
Q9BRR0	ZKSC3_HUMAN	200	K	A	Polymorphism	-
Q9BRR0	ZKSC3_HUMAN	189	V	M	Polymorphism	-
Q9BRR0	ZKSC3_HUMAN	3	R	T	Polymorphism	-
Q9BRR0	ZKSC3_HUMAN	200	K	T	Polymorphism	-
Q9BRR0	ZKSC3_HUMAN	33	G	V	Polymorphism	-
Q9BRR6	ADPGK_HUMAN	184	K	R	Polymorphism	-
Q9BRR8	GPTC1_HUMAN	631	D	E	Polymorphism	-
Q9BRR8	GPTC1_HUMAN	476	L	P	Polymorphism	-
Q9BRR8	GPTC1_HUMAN	520	L	S	Polymorphism	-
Q9BRR8	GPTC1_HUMAN	909	E	K	Polymorphism	-
Q9BRR8	GPTC1_HUMAN	724	H	R	Polymorphism	-
Q9BRR8	GPTC1_HUMAN	728	L	S	Polymorphism	-
Q9BRR9	RHG09_HUMAN	137	R	C	Polymorphism	-
Q9BRR9	RHG09_HUMAN	370	S	A	Polymorphism	-
Q9BRR9	RHG09_HUMAN	50	R	G	Polymorphism	-
Q9BRS2	RIOK1_HUMAN	375	V	I	Polymorphism	-
Q9BRT8	CBWD1_HUMAN	8	A	V	Polymorphism	-
Q9BRU9	UTP23_HUMAN	170	H	R	Polymorphism	-
Q9BRU9	UTP23_HUMAN	215	P	L	Polymorphism	-
Q9BRU9	UTP23_HUMAN	195	K	Q	Polymorphism	-
Q9BRX2	PELO_HUMAN	221	L	M	Polymorphism	-
Q9BRX9	WDR83_HUMAN	304	R	Q	Polymorphism	-
Q9BRX9	WDR83_HUMAN	278	G	S	Polymorphism	-
Q9BRY0	S39A3_HUMAN	100	F	L	Polymorphism	-
Q9BRY0	S39A3_HUMAN	257	P	L	Polymorphism	-
Q9BS31	ZN649_HUMAN	352	G	D	Polymorphism	-
Q9BS31	ZN649_HUMAN	469	A	T	Polymorphism	-
Q9BS40	LXN_HUMAN	53	H	R	Polymorphism	-
Q9BS40	LXN_HUMAN	134	T	M	Polymorphism	-
Q9BS86	ZPBP1_HUMAN	17	R	P	Polymorphism	-
Q9BS86	ZPBP1_HUMAN	25	R	P	Polymorphism	-
Q9BS86	ZPBP1_HUMAN	252	N	S	Unclassified	-
Q9BS86	ZPBP1_HUMAN	217	H	L	Unclassified	-
Q9BS86	ZPBP1_HUMAN	287	I	T	Unclassified	-
Q9BS86	ZPBP1_HUMAN	184	S	G	Unclassified	-
Q9BS86	ZPBP1_HUMAN	225	G	S	Unclassified	-
Q9BS91	S35A5_HUMAN	247	N	I	Polymorphism	-
Q9BS92	NPS3B_HUMAN	154	K	E	Polymorphism	-
Q9BS92	NPS3B_HUMAN	94	A	P	Polymorphism	-
Q9BS92	NPS3B_HUMAN	159	A	G	Polymorphism	-
Q9BSA4	TTYH2_HUMAN	11	P	H	Polymorphism	-
Q9BSA4	TTYH2_HUMAN	262	A	T	Polymorphism	-
Q9BSA4	TTYH2_HUMAN	265	S	A	Polymorphism	-
Q9BSA4	TTYH2_HUMAN	85	H	D	Polymorphism	-
Q9BSA4	TTYH2_HUMAN	409	A	E	Polymorphism	-
Q9BSA4	TTYH2_HUMAN	419	T	I	Polymorphism	-
Q9BSA4	TTYH2_HUMAN	423	D	E	Polymorphism	-
Q9BSA9	TM175_HUMAN	65	Q	P	Polymorphism	-
Q9BSA9	TM175_HUMAN	393	M	T	Polymorphism	-
Q9BSC4	NOL10_HUMAN	635	D	N	Polymorphism	-
Q9BSD7	NTPCR_HUMAN	106	G	E	Polymorphism	-
Q9BSE2	TMM79_HUMAN	147	V	M	Polymorphism	-
Q9BSE4	HERP2_HUMAN	200	H	L	Polymorphism	-
Q9BSE4	HERP2_HUMAN	108	A	T	Polymorphism	-
Q9BSE5	SPEB_HUMAN	140	R	Q	Polymorphism	-
Q9BSE5	SPEB_HUMAN	105	G	R	Polymorphism	-
Q9BSF0	SMAKA_HUMAN	56	T	I	Polymorphism	-
Q9BSF8	BTBDA_HUMAN	145	T	A	Polymorphism	-
Q9BSG5	RTBDN_HUMAN	198	G	A	Polymorphism	-
Q9BSH4	TACO1_HUMAN	145	G	S	Polymorphism	-
Q9BSH5	HDHD3_HUMAN	146	G	E	Polymorphism	-
Q9BSI4	TINF2_HUMAN	282	R	S	Disease	Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990]
Q9BSI4	TINF2_HUMAN	280	K	E	Disease	Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990]
Q9BSI4	TINF2_HUMAN	237	G	D	Polymorphism	-
Q9BSI4	TINF2_HUMAN	282	R	H	Disease	Dyskeratosis congenita, autosomal dominant, 5 (DKCA5) [MIM:268130]
Q9BSI4	TINF2_HUMAN	282	R	H	Disease	Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990]
Q9BSI4	TINF2_HUMAN	241	P	S	Polymorphism	-
Q9BSI4	TINF2_HUMAN	43	A	T	Polymorphism	-
Q9BSJ2	GCP2_HUMAN	809	A	T	Polymorphism	-
Q9BSJ2	GCP2_HUMAN	193	I	T	Polymorphism	-
Q9BSJ2	GCP2_HUMAN	111	A	T	Polymorphism	-
Q9BSJ5	CQ080_HUMAN	396	C	R	Polymorphism	-
Q9BSJ5	CQ080_HUMAN	356	F	L	Polymorphism	-
Q9BSJ5	CQ080_HUMAN	322	K	Q	Polymorphism	-
Q9BSJ5	CQ080_HUMAN	420	Q	H	Polymorphism	-
Q9BSJ5	CQ080_HUMAN	522	A	T	Polymorphism	-
Q9BSJ5	CQ080_HUMAN	226	G	S	Polymorphism	-
Q9BSJ5	CQ080_HUMAN	395	H	N	Polymorphism	-
Q9BSJ6	PIMRE_HUMAN	199	S	C	Polymorphism	-
Q9BSJ8	ESYT1_HUMAN	764	R	C	Polymorphism	-
Q9BSK1	ZN577_HUMAN	246	K	E	Polymorphism	-
Q9BSK1	ZN577_HUMAN	375	T	I	Polymorphism	-
Q9BSK1	ZN577_HUMAN	346	R	C	Polymorphism	-
Q9BSK1	ZN577_HUMAN	234	R	K	Polymorphism	-
Q9BSK1	ZN577_HUMAN	84	A	V	Polymorphism	-
Q9BSK1	ZN577_HUMAN	357	R	S	Polymorphism	-
Q9BSK1	ZN577_HUMAN	123	R	C	Polymorphism	-
Q9BSK1	ZN577_HUMAN	373	E	K	Polymorphism	-
Q9BSK2	S2533_HUMAN	242	L	I	Polymorphism	-
Q9BSK4	FEM1A_HUMAN	500	H	Y	Unclassified	-
Q9BSL1	UBAC1_HUMAN	374	E	D	Polymorphism	-
Q9BSN7	TM204_HUMAN	57	G	A	Polymorphism	-
Q9BSQ5	CCM2_HUMAN	215	Q	H	Disease	Cerebral cavernous malformations 2 (CCM2) [MIM:603284]
Q9BSQ5	CCM2_HUMAN	120	V	I	Polymorphism	-
Q9BSQ5	CCM2_HUMAN	53	V	I	Polymorphism	-
Q9BSQ5	CCM2_HUMAN	289	S	N	Polymorphism	-
Q9BSQ5	CCM2_HUMAN	198	L	R	Disease	Cerebral cavernous malformations 2 (CCM2) [MIM:603284]
Q9BSQ5	CCM2_HUMAN	229	L	Q	Disease	Cerebral cavernous malformations 2 (CCM2) [MIM:603284]
Q9BSU3	NAA11_HUMAN	6	A	T	Polymorphism	-
Q9BSU3	NAA11_HUMAN	19	L	F	Polymorphism	-
Q9BSV6	SEN34_HUMAN	58	R	W	Disease	Pontocerebellar hypoplasia 2C (PCH2C) [MIM:612390]
Q9BSV6	SEN34_HUMAN	112	L	V	Polymorphism	-
Q9BSW2	EFC4B_HUMAN	212	H	Q	Polymorphism	-
Q9BSW2	EFC4B_HUMAN	128	A	V	Polymorphism	-
Q9BSW2	EFC4B_HUMAN	136	H	P	Polymorphism	-
Q9BSW2	EFC4B_HUMAN	98	A	T	Polymorphism	-
Q9BSW2	EFC4B_HUMAN	7	R	G	Polymorphism	-
Q9BSW2	EFC4B_HUMAN	154	E	K	Polymorphism	-
Q9BT04	FUZZY_HUMAN	34	A	S	Polymorphism	-
Q9BT04	FUZZY_HUMAN	400	T	I	Polymorphism	-
Q9BT04	FUZZY_HUMAN	175	G	D	Polymorphism	-
Q9BT09	CNPY3_HUMAN	125	G	R	Unclassified	Epileptic encephalopathy, early infantile, 60 (EIEE60) [MIM:617929]
Q9BT09	CNPY3_HUMAN	145	M	I	Polymorphism	-
Q9BT09	CNPY3_HUMAN	231	S	I	Polymorphism	-
Q9BT17	MTG1_HUMAN	293	I	V	Polymorphism	-
Q9BT22	ALG1_HUMAN	50	Q	R	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	74	H	L	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	209	I	S	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	367	H	Q	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	455	Q	R	Polymorphism	-
Q9BT22	ALG1_HUMAN	438	R	W	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	114	L	F	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	366	L	Q	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	363	G	A	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	359	S	L	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	98	P	L	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	388	P	S	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	267	S	N	Polymorphism	-
Q9BT22	ALG1_HUMAN	353	Y	D	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	281	V	F	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	289	D	G	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	382	M	K	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	88	L	V	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	276	R	W	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	360	A	V	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	258	S	L	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	291	D	V	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	358	G	R	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	429	D	E	Polymorphism	-
Q9BT22	ALG1_HUMAN	71	S	F	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	384	G	R	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	325	L	M	Polymorphism	-
Q9BT22	ALG1_HUMAN	342	Q	P	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22	ALG1_HUMAN	150	S	R	Disease	Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT25	HAUS8_HUMAN	83	G	R	Polymorphism	-
Q9BT30	ALKB7_HUMAN	191	R	Q	Polymorphism	-
Q9BT40	INP5K_HUMAN	363	I	T	Disease	Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
Q9BT40	INP5K_HUMAN	269	D	N	Disease	Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
Q9BT40	INP5K_HUMAN	315	S	F	Unclassified	A breast cancer sample
Q9BT40	INP5K_HUMAN	140	G	S	Disease	Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
Q9BT40	INP5K_HUMAN	23	V	M	Disease	Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
Q9BT40	INP5K_HUMAN	300	Y	C	Disease	Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
Q9BT40	INP5K_HUMAN	50	I	T	Disease	Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
Q9BT40	INP5K_HUMAN	93	M	V	Disease	Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
Q9BT49	THAP7_HUMAN	115	A	P	Polymorphism	-
Q9BT76	UPK3B_HUMAN	319	W	R	Polymorphism	-
Q9BT76	UPK3B_HUMAN	293	Q	R	Polymorphism	-
Q9BT88	SYT11_HUMAN	48	Q	H	Polymorphism	-
Q9BT88	SYT11_HUMAN	231	G	V	Polymorphism	-
Q9BT92	TCHP_HUMAN	93	E	K	Unclassified	A pancreatic carcinoma sample
Q9BT92	TCHP_HUMAN	127	K	R	Polymorphism	-
Q9BT92	TCHP_HUMAN	417	E	K	Polymorphism	-
Q9BT92	TCHP_HUMAN	44	S	P	Unclassified	A gastric carcinoma sample
Q9BTA9	WAC_HUMAN	475	S	L	Unclassified	A colorectal cancer sample
Q9BTA9	WAC_HUMAN	309	T	A	Polymorphism	-
Q9BTA9	WAC_HUMAN	531	T	S	Polymorphism	-
Q9BTA9	WAC_HUMAN	242	S	R	Polymorphism	-
Q9BTC0	DIDO1_HUMAN	544	M	T	Polymorphism	-
Q9BTC0	DIDO1_HUMAN	276	P	L	Polymorphism	-
Q9BTC0	DIDO1_HUMAN	13	P	L	Polymorphism	-
Q9BTC0	DIDO1_HUMAN	556	A	T	Polymorphism	-
Q9BTC0	DIDO1_HUMAN	1708	S	C	Polymorphism	-
Q9BTC0	DIDO1_HUMAN	1220	P	Q	Polymorphism	-
Q9BTC0	DIDO1_HUMAN	793	A	G	Polymorphism	-
Q9BTE0	NAT9_HUMAN	56	C	R	Polymorphism	-
Q9BTL4	IER2_HUMAN	133	A	V	Polymorphism	-
Q9BTN0	LRFN3_HUMAN	14	A	V	Polymorphism	-
Q9BTP7	FAP24_HUMAN	192	I	T	Polymorphism	-
Q9BTP7	FAP24_HUMAN	158	S	L	Polymorphism	-
Q9BTP7	FAP24_HUMAN	126	S	F	Polymorphism	-
Q9BTT6	LRRC1_HUMAN	193	I	V	Polymorphism	-
Q9BTV4	TMM43_HUMAN	318	A	V	Polymorphism	-
Q9BTV4	TMM43_HUMAN	168	K	N	Polymorphism	-
Q9BTV4	TMM43_HUMAN	91	I	V	Disease	Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]
Q9BTV4	TMM43_HUMAN	85	E	K	Disease	Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]
Q9BTV4	TMM43_HUMAN	358	S	L	Disease	Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400]
Q9BTV4	TMM43_HUMAN	179	M	T	Polymorphism	-
Q9BTV4	TMM43_HUMAN	233	Y	C	Polymorphism	-
Q9BTV5	FSD1_HUMAN	232	L	V	Polymorphism	-
Q9BTV6	DPH7_HUMAN	158	G	R	Polymorphism	-
Q9BTV7	CABL2_HUMAN	428	T	K	Polymorphism	-
Q9BTW9	TBCD_HUMAN	772	R	C	Disease	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	475	A	T	Disease	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	374	T	M	Disease	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	1185	L	P	Polymorphism	-
Q9BTW9	TBCD_HUMAN	377	R	Q	Disease	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	387	M	R	Disease	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	1105	V	M	Unclassified	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	1122	P	L	Disease	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	586	A	V	Disease	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	617	M	T	Polymorphism	-
Q9BTW9	TBCD_HUMAN	994	T	M	Unclassified	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	229	L	R	Disease	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	626	A	T	Disease	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	937	P	R	Disease	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	921	A	T	Disease	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
Q9BTW9	TBCD_HUMAN	923	S	N	Polymorphism	-
Q9BTW9	TBCD_HUMAN	943	G	V	Polymorphism	-
Q9BTX1	NDC1_HUMAN	154	G	D	Polymorphism	-
Q9BTX3	TM208_HUMAN	102	L	P	Polymorphism	-
Q9BTX3	TM208_HUMAN	82	D	Y	Polymorphism	-
Q9BTX7	TTPAL_HUMAN	278	A	G	Polymorphism	-
Q9BTY2	FUCO2_HUMAN	371	H	Y	Polymorphism	-
Q9BTY2	FUCO2_HUMAN	233	A	E	Polymorphism	-
Q9BTY2	FUCO2_HUMAN	356	M	V	Polymorphism	-
Q9BTZ2	DHRS4_HUMAN	202	P	S	Polymorphism	-
Q9BTZ2	DHRS4_HUMAN	31	A	T	Polymorphism	-
Q9BU02	THTPA_HUMAN	176	H	R	Polymorphism	-
Q9BU19	ZN692_HUMAN	230	P	R	Polymorphism	-
Q9BU20	CPLN2_HUMAN	86	E	G	Polymorphism	-
Q9BU20	CPLN2_HUMAN	161	I	L	Polymorphism	-
Q9BU23	LMF2_HUMAN	68	P	L	Unclassified	A breast cancer sample
Q9BU23	LMF2_HUMAN	479	T	M	Polymorphism	-
Q9BU40	CRDL1_HUMAN	260	C	F	Disease	Megalocornea 1, X-linked (MGC1) [MIM:309300]
Q9BU61	NDUF3_HUMAN	165	A	V	Disease	Mitochondrial complex I deficiency, nuclear type 18 (MC1DN18) [MIM:618240]
Q9BU61	NDUF3_HUMAN	122	R	P	Disease	Mitochondrial complex I deficiency, nuclear type 18 (MC1DN18) [MIM:618240]
Q9BU61	NDUF3_HUMAN	77	G	R	Disease	Mitochondrial complex I deficiency, nuclear type 18 (MC1DN18) [MIM:618240]
Q9BU64	CENPO_HUMAN	34	Q	R	Polymorphism	-
Q9BU70	TRMO_HUMAN	7	S	P	Polymorphism	-
Q9BU70	TRMO_HUMAN	252	V	A	Polymorphism	-
Q9BU70	TRMO_HUMAN	324	V	M	Polymorphism	-
Q9BUA3	SPNDC_HUMAN	58	E	Q	Polymorphism	-
Q9BUA6	MYL10_HUMAN	46	M	T	Polymorphism	-
Q9BUB4	ADAT1_HUMAN	203	T	N	Polymorphism	-
Q9BUB4	ADAT1_HUMAN	167	H	N	Polymorphism	-
Q9BUB4	ADAT1_HUMAN	242	T	P	Polymorphism	-
Q9BUB4	ADAT1_HUMAN	226	I	V	Polymorphism	-
Q9BUB5	MKNK1_HUMAN	158	L	V	Polymorphism	-
Q9BUB5	MKNK1_HUMAN	308	D	N	Polymorphism	-
Q9BUB5	MKNK1_HUMAN	49	K	Q	Polymorphism	-
Q9BUB5	MKNK1_HUMAN	446	R	Q	Polymorphism	-
Q9BUB7	TMM70_HUMAN	228	N	K	Polymorphism	-
Q9BUB7	TMM70_HUMAN	34	A	P	Polymorphism	-
Q9BUB7	TMM70_HUMAN	210	T	P	Disease	Mitochondrial complex V deficiency, nuclear type 2 (MC5DN2) [MIM:614052]
Q9BUB7	TMM70_HUMAN	250	T	A	Polymorphism	-
Q9BUB7	TMM70_HUMAN	259	D	E	Polymorphism	-
Q9BUD6	SPON2_HUMAN	38	R	G	Polymorphism	-
Q9BUD6	SPON2_HUMAN	40	L	P	Polymorphism	-
Q9BUD6	SPON2_HUMAN	122	E	A	Polymorphism	-
Q9BUD6	SPON2_HUMAN	242	V	L	Polymorphism	-
Q9BUE6	ISCA1_HUMAN	87	E	K	Unclassified	Multiple mitochondrial dysfunctions syndrome 5 (MMDS5) [MIM:617613]
Q9BUF5	TBB6_HUMAN	394	F	S	Disease	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction (FPVEPD) [MIM:617732]
Q9BUG6	ZSA5A_HUMAN	337	G	V	Polymorphism	-
Q9BUG6	ZSA5A_HUMAN	146	E	Q	Unclassified	A colorectal cancer sample
Q9BUI4	RPC3_HUMAN	243	H	R	Polymorphism	-
Q9BUJ0	ABHEA_HUMAN	61	C	W	Polymorphism	-
Q9BUJ0	ABHEA_HUMAN	32	R	Q	Polymorphism	-
Q9BUJ2	HNRL1_HUMAN	91	G	C	Polymorphism	-
Q9BUK6	MSTO1_HUMAN	376	F	L	Unclassified	Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675]
Q9BUK6	MSTO1_HUMAN	324	T	I	Unclassified	Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675]
Q9BUK6	MSTO1_HUMAN	8	V	M	Disease	Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675]
Q9BUK6	MSTO1_HUMAN	345	R	C	Unclassified	Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675]
Q9BUL8	PDC10_HUMAN	102	D	A	Polymorphism	-
Q9BUM1	G6PC3_HUMAN	161	R	Q	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	253	R	H	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	253	R	C	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	260	G	R	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	116	M	K	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	116	M	V	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	118	T	R	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	189	R	Q	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	44	P	L	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	116	M	I	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	116	M	T	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	216	T	I	Polymorphism	-
Q9BUM1	G6PC3_HUMAN	262	G	R	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	59	W	R	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	208	L	R	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	116	M	V	Disease	Dursun syndrome (DURSS) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	185	L	P	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	139	S	I	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	260	G	D	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	154	L	P	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	44	P	S	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUM1	G6PC3_HUMAN	325	L	R	Disease	Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
Q9BUN5	CC28B_HUMAN	25	R	W	Polymorphism	-
Q9BUN8	DERL1_HUMAN	171	I	V	Polymorphism	-
Q9BUP0	EFHD1_HUMAN	186	K	R	Polymorphism	-
Q9BUP3	HTAI2_HUMAN	116	A	T	Unclassified	A hepatocellular carcinoma sample
Q9BUP3	HTAI2_HUMAN	144	L	I	Unclassified	A hepatocellular carcinoma sample
Q9BUP3	HTAI2_HUMAN	108	D	Y	Unclassified	A hepatocellular carcinoma sample
Q9BUP3	HTAI2_HUMAN	106	R	S	Unclassified	A hepatocellular carcinoma sample
Q9BUP3	HTAI2_HUMAN	197	S	R	Polymorphism	-
Q9BUP3	HTAI2_HUMAN	134	G	V	Unclassified	A hepatocellular carcinoma sample
Q9BUR4	TCAB1_HUMAN	68	R	G	Polymorphism	-
Q9BUR4	TCAB1_HUMAN	11	P	S	Polymorphism	-
Q9BUR4	TCAB1_HUMAN	136	P	R	Polymorphism	-
Q9BUR4	TCAB1_HUMAN	398	R	W	Disease	Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988]
Q9BUR4	TCAB1_HUMAN	494	E	Q	Polymorphism	-
Q9BUR4	TCAB1_HUMAN	522	A	G	Polymorphism	-
Q9BUR4	TCAB1_HUMAN	164	F	L	Disease	Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988]
Q9BUR4	TCAB1_HUMAN	435	G	R	Disease	Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988]
Q9BUR4	TCAB1_HUMAN	187	N	T	Polymorphism	-
Q9BUR4	TCAB1_HUMAN	376	H	Y	Disease	Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988]
Q9BUT1	BDH2_HUMAN	70	N	S	Polymorphism	-
Q9BUU2	MET22_HUMAN	366	A	T	Polymorphism	-
Q9BUU2	MET22_HUMAN	59	W	S	Polymorphism	-
Q9BUU2	MET22_HUMAN	219	A	T	Polymorphism	-
Q9BUU2	MET22_HUMAN	375	E	K	Polymorphism	-
Q9BUV0	RSRP1_HUMAN	239	E	G	Polymorphism	-
Q9BUV0	RSRP1_HUMAN	147	Y	H	Polymorphism	-
Q9BUY5	ZN426_HUMAN	4	A	V	Polymorphism	-
Q9BUY5	ZN426_HUMAN	219	T	A	Polymorphism	-
Q9BUY7	EFC11_HUMAN	45	T	A	Polymorphism	-
Q9BUY7	EFC11_HUMAN	31	D	G	Polymorphism	-
Q9BUY7	EFC11_HUMAN	15	A	V	Polymorphism	-
Q9BUZ4	TRAF4_HUMAN	173	A	T	Polymorphism	-
Q9BUZ4	TRAF4_HUMAN	178	R	G	Polymorphism	-
Q9BV10	ALG12_HUMAN	67	T	M	Disease	Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
Q9BV10	ALG12_HUMAN	158	L	P	Disease	Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
Q9BV10	ALG12_HUMAN	146	R	Q	Disease	Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
Q9BV10	ALG12_HUMAN	101	G	R	Disease	Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
Q9BV10	ALG12_HUMAN	142	F	V	Disease	Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
Q9BV10	ALG12_HUMAN	393	I	V	Polymorphism	-
Q9BV19	CA050_HUMAN	178	T	M	Polymorphism	-
Q9BV20	MTNA_HUMAN	235	M	V	Polymorphism	-
Q9BV20	MTNA_HUMAN	319	G	A	Polymorphism	-
Q9BV23	ABHD6_HUMAN	206	T	P	Polymorphism	-
Q9BV23	ABHD6_HUMAN	231	G	V	Polymorphism	-
Q9BV23	ABHD6_HUMAN	204	P	L	Polymorphism	-
Q9BV23	ABHD6_HUMAN	148	S	C	Polymorphism	-
Q9BV23	ABHD6_HUMAN	113	R	H	Polymorphism	-
Q9BV29	CCD32_HUMAN	2	K	I	Polymorphism	-
Q9BV36	MELPH_HUMAN	374	V	A	Polymorphism	-
Q9BV36	MELPH_HUMAN	153	L	P	Polymorphism	-
Q9BV36	MELPH_HUMAN	35	R	W	Disease	Griscelli syndrome 3 (GS3) [MIM:609227]
Q9BV36	MELPH_HUMAN	139	R	W	Polymorphism	-
Q9BV36	MELPH_HUMAN	163	D	N	Polymorphism	-
Q9BV36	MELPH_HUMAN	289	T	I	Polymorphism	-
Q9BV36	MELPH_HUMAN	172	G	D	Polymorphism	-
Q9BV36	MELPH_HUMAN	347	H	R	Polymorphism	-
Q9BV36	MELPH_HUMAN	451	P	S	Polymorphism	-
Q9BV38	WDR18_HUMAN	172	A	T	Polymorphism	-
Q9BV38	WDR18_HUMAN	264	V	I	Polymorphism	-
Q9BV38	WDR18_HUMAN	213	L	F	Polymorphism	-
Q9BV44	THUM3_HUMAN	459	R	Q	Polymorphism	-
Q9BV68	RN126_HUMAN	68	V	M	Polymorphism	-
Q9BV73	CP250_HUMAN	995	Q	H	Polymorphism	-
Q9BV73	CP250_HUMAN	609	A	V	Unclassified	-
Q9BV73	CP250_HUMAN	1441	R	Q	Polymorphism	-
Q9BV73	CP250_HUMAN	1072	Q	E	Polymorphism	-
Q9BV79	MECR_HUMAN	232	G	E	Disease	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282]
Q9BV79	MECR_HUMAN	258	R	L	Polymorphism	-
Q9BV79	MECR_HUMAN	258	R	W	Disease	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282]
Q9BV79	MECR_HUMAN	227	R	K	Polymorphism	-
Q9BV79	MECR_HUMAN	285	Y	C	Disease	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282]
Q9BV79	MECR_HUMAN	96	F	L	Polymorphism	-
Q9BV87	CNPD1_HUMAN	344	R	T	Polymorphism	-
Q9BV87	CNPD1_HUMAN	292	L	P	Polymorphism	-
Q9BV87	CNPD1_HUMAN	366	P	L	Polymorphism	-
Q9BV87	CNPD1_HUMAN	383	L	P	Polymorphism	-
Q9BV87	CNPD1_HUMAN	262	I	T	Polymorphism	-
Q9BV94	EDEM2_HUMAN	556	L	F	Polymorphism	-
Q9BV94	EDEM2_HUMAN	456	A	T	Polymorphism	-
Q9BV94	EDEM2_HUMAN	510	R	Q	Polymorphism	-
Q9BV99	LRC61_HUMAN	143	N	S	Polymorphism	-
Q9BVA0	KTNB1_HUMAN	535	S	L	Disease	Lissencephaly 6, with microcephaly (LIS6) [MIM:616212]
Q9BVA0	KTNB1_HUMAN	540	L	R	Disease	Lissencephaly 6, with microcephaly (LIS6) [MIM:616212]
Q9BVA0	KTNB1_HUMAN	181	M	V	Polymorphism	-
Q9BVA0	KTNB1_HUMAN	33	G	W	Disease	Lissencephaly 6, with microcephaly (LIS6) [MIM:616212]
Q9BVA1	TBB2B_HUMAN	201	C	S	Polymorphism	-
Q9BVA1	TBB2B_HUMAN	417	D	N	Disease	Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]
Q9BVA1	TBB2B_HUMAN	172	S	P	Disease	Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]
Q9BVA1	TBB2B_HUMAN	210	I	T	Disease	Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]
Q9BVA1	TBB2B_HUMAN	228	L	P	Disease	Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]
Q9BVA1	TBB2B_HUMAN	256	N	S	Disease	Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]
Q9BVA1	TBB2B_HUMAN	421	E	K	Disease	Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]
Q9BVA1	TBB2B_HUMAN	265	F	L	Disease	Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]
Q9BVA1	TBB2B_HUMAN	239	C	F	Disease	Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]
Q9BVA1	TBB2B_HUMAN	312	T	M	Disease	Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]
Q9BVA1	TBB2B_HUMAN	390	R	Q	Disease	-
Q9BVA1	TBB2B_HUMAN	117	L	P	Disease	Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]
Q9BVC3	DCC1_HUMAN	376	H	R	Polymorphism	-
Q9BVC5	ASHWN_HUMAN	185	G	D	Polymorphism	-
Q9BVG8	KIFC3_HUMAN	391	G	V	Polymorphism	-
Q9BVI0	PHF20_HUMAN	605	V	M	Polymorphism	-
Q9BVJ6	UT14A_HUMAN	487	V	A	Polymorphism	-
Q9BVJ6	UT14A_HUMAN	771	D	G	Polymorphism	-
Q9BVJ7	DUS23_HUMAN	124	E	V	Polymorphism	-
Q9BVJ7	DUS23_HUMAN	131	G	S	Polymorphism	-
Q9BVK2	ALG8_HUMAN	275	G	D	Disease	Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]
Q9BVK2	ALG8_HUMAN	439	I	T	Polymorphism	-
Q9BVK2	ALG8_HUMAN	47	T	P	Disease	Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]
Q9BVK2	ALG8_HUMAN	222	N	S	Polymorphism	-
Q9BVK6	TMED9_HUMAN	16	T	S	Polymorphism	-
Q9BVK8	TM147_HUMAN	132	Y	H	Polymorphism	-
Q9BVL2	NUP58_HUMAN	166	S	P	Polymorphism	-
Q9BVL2	NUP58_HUMAN	34	A	T	Polymorphism	-
Q9BVL4	SELO_HUMAN	3	V	A	Polymorphism	-
Q9BVL4	SELO_HUMAN	167	T	N	Polymorphism	-
Q9BVL4	SELO_HUMAN	638	E	K	Polymorphism	-
Q9BVL4	SELO_HUMAN	630	E	K	Polymorphism	-
Q9BVM2	DPCD_HUMAN	156	L	S	Polymorphism	-
Q9BVM2	DPCD_HUMAN	56	S	R	Polymorphism	-
Q9BVN2	RUSC1_HUMAN	362	S	F	Polymorphism	-
Q9BVN2	RUSC1_HUMAN	493	V	A	Polymorphism	-
Q9BVP2	GNL3_HUMAN	367	V	M	Polymorphism	-
Q9BVP2	GNL3_HUMAN	39	R	Q	Polymorphism	-
Q9BVQ7	SPA5L_HUMAN	252	R	Q	Polymorphism	-
Q9BVQ7	SPA5L_HUMAN	592	N	D	Polymorphism	-
Q9BVQ7	SPA5L_HUMAN	119	R	P	Polymorphism	-
Q9BVR0	HRC23_HUMAN	759	L	P	Polymorphism	-
Q9BVR0	HRC23_HUMAN	1119	R	I	Polymorphism	-
Q9BVS4	RIOK2_HUMAN	409	E	D	Polymorphism	-
Q9BVS4	RIOK2_HUMAN	96	S	C	Polymorphism	-
Q9BVS4	RIOK2_HUMAN	155	R	H	Polymorphism	-
Q9BVS4	RIOK2_HUMAN	144	H	Y	Polymorphism	-
Q9BVS4	RIOK2_HUMAN	244	M	V	Polymorphism	-
Q9BVS4	RIOK2_HUMAN	349	G	R	Polymorphism	-
Q9BVS4	RIOK2_HUMAN	507	R	H	Polymorphism	-
Q9BVS4	RIOK2_HUMAN	144	H	R	Polymorphism	-
Q9BVS4	RIOK2_HUMAN	397	N	S	Polymorphism	-
Q9BVS4	RIOK2_HUMAN	175	V	I	Polymorphism	-
Q9BVS4	RIOK2_HUMAN	216	I	T	Unclassified	A renal clear cell carcinoma sample
Q9BVV6	TALD3_HUMAN	566	D	V	Disease	Joubert syndrome 23 (JBTS23) [MIM:616490]
Q9BVV6	TALD3_HUMAN	828	L	P	Polymorphism	-
Q9BVV6	TALD3_HUMAN	403	R	K	Unclassified	Joubert syndrome 23 (JBTS23) [MIM:616490]
Q9BVV7	TIM21_HUMAN	79	G	S	Polymorphism	-
Q9BVW5	TIPIN_HUMAN	267	A	S	Polymorphism	-
Q9BVW5	TIPIN_HUMAN	270	N	D	Polymorphism	-
Q9BVW5	TIPIN_HUMAN	260	L	P	Polymorphism	-
Q9BVW5	TIPIN_HUMAN	53	R	P	Polymorphism	-
Q9BVW5	TIPIN_HUMAN	270	N	S	Polymorphism	-
Q9BVW5	TIPIN_HUMAN	111	A	G	Polymorphism	-
Q9BVX2	T106C_HUMAN	103	V	F	Polymorphism	-
Q9BVX2	T106C_HUMAN	175	S	F	Polymorphism	-
Q9BW04	SARG_HUMAN	258	R	G	Polymorphism	-
Q9BW04	SARG_HUMAN	87	P	S	Polymorphism	-
Q9BW04	SARG_HUMAN	434	N	S	Polymorphism	-
Q9BW04	SARG_HUMAN	444	S	P	Polymorphism	-
Q9BW04	SARG_HUMAN	107	T	A	Polymorphism	-
Q9BW04	SARG_HUMAN	514	F	S	Polymorphism	-
Q9BW04	SARG_HUMAN	157	N	T	Polymorphism	-
Q9BW11	MAD3_HUMAN	114	Q	H	Polymorphism	-
Q9BW19	KIFC1_HUMAN	219	R	Q	Polymorphism	-
Q9BW27	NUP85_HUMAN	645	R	W	Disease	Nephrotic syndrome 17 (NPHS17) [MIM:618176]
Q9BW27	NUP85_HUMAN	581	A	P	Disease	Nephrotic syndrome 17 (NPHS17) [MIM:618176]
Q9BW27	NUP85_HUMAN	477	A	V	Unclassified	Nephrotic syndrome 17 (NPHS17) [MIM:618176]
Q9BW66	CINP_HUMAN	177	D	N	Unclassified	A colorectal cancer sample
Q9BW66	CINP_HUMAN	164	R	H	Polymorphism	-
Q9BW71	HIRP3_HUMAN	496	A	V	Polymorphism	-
Q9BW71	HIRP3_HUMAN	521	G	W	Polymorphism	-
Q9BW83	IFT27_HUMAN	100	C	Y	Disease	Bardet-Biedl syndrome 19 (BBS19) [MIM:615996]
Q9BW92	SYTM_HUMAN	282	P	L	Disease	Combined oxidative phosphorylation deficiency 21 (COXPD21) [MIM:615918]
Q9BWD1	THIC_HUMAN	211	K	R	Polymorphism	-
Q9BWD3	RTL8A_HUMAN	48	S	C	Polymorphism	-
Q9BWE0	REPI1_HUMAN	14	L	P	Polymorphism	-
Q9BWE0	REPI1_HUMAN	92	R	H	Polymorphism	-
Q9BWE0	REPI1_HUMAN	49	G	R	Polymorphism	-
Q9BWE0	REPI1_HUMAN	88	P	S	Polymorphism	-
Q9BWE0	REPI1_HUMAN	97	A	V	Polymorphism	-
Q9BWF2	TRAIP_HUMAN	18	R	C	Disease	Seckel syndrome 9 (SCKL9) [MIM:616777]
Q9BWH6	RPAP1_HUMAN	429	R	Q	Polymorphism	-
Q9BWH6	RPAP1_HUMAN	506	E	K	Polymorphism	-
Q9BWH6	RPAP1_HUMAN	525	R	Q	Unclassified	A colorectal cancer sample
Q9BWH6	RPAP1_HUMAN	582	R	G	Polymorphism	-
Q9BWH6	RPAP1_HUMAN	1108	R	G	Polymorphism	-
Q9BWH6	RPAP1_HUMAN	165	K	M	Polymorphism	-
Q9BWH6	RPAP1_HUMAN	825	Q	E	Polymorphism	-
Q9BWK5	CYREN_HUMAN	82	P	L	Unclassified	A colorectal cancer sample
Q9BWN1	PRR14_HUMAN	359	P	L	Polymorphism	-
Q9BWP8	COL11_HUMAN	166	A	T	Unclassified	3MC syndrome 2 (3MC2) [MIM:265050]
Q9BWP8	COL11_HUMAN	219	H	R	Polymorphism	-
Q9BWP8	COL11_HUMAN	169	S	P	Disease	3MC syndrome 2 (3MC2) [MIM:265050]
Q9BWP8	COL11_HUMAN	204	G	S	Disease	3MC syndrome 2 (3MC2) [MIM:265050]
Q9BWS9	CHID1_HUMAN	331	R	Q	Polymorphism	-
Q9BWS9	CHID1_HUMAN	338	A	V	Polymorphism	-
Q9BWT1	CDCA7_HUMAN	274	R	H	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910]
Q9BWT1	CDCA7_HUMAN	274	R	C	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910]
Q9BWT1	CDCA7_HUMAN	294	G	V	Unclassified	Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910]
Q9BWT1	CDCA7_HUMAN	304	R	H	Unclassified	Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910]
Q9BWT7	CAR10_HUMAN	289	R	Q	Polymorphism	-
Q9BWU0	NADAP_HUMAN	139	P	T	Polymorphism	-
Q9BWU0	NADAP_HUMAN	181	R	C	Polymorphism	-
Q9BWV1	BOC_HUMAN	713	V	M	Unclassified	A breast cancer sample
Q9BWV1	BOC_HUMAN	915	Q	H	Polymorphism	-
Q9BWV1	BOC_HUMAN	883	K	N	Polymorphism	-
Q9BWV2	SPAT9_HUMAN	209	K	E	Polymorphism	-
Q9BWV7	TTLL2_HUMAN	63	P	S	Polymorphism	-
Q9BWV7	TTLL2_HUMAN	441	K	T	Polymorphism	-
Q9BWV7	TTLL2_HUMAN	356	I	V	Polymorphism	-
Q9BWV7	TTLL2_HUMAN	559	V	I	Polymorphism	-
Q9BWV7	TTLL2_HUMAN	127	T	A	Polymorphism	-
Q9BWV7	TTLL2_HUMAN	202	L	P	Polymorphism	-
Q9BWV7	TTLL2_HUMAN	425	R	G	Polymorphism	-
Q9BWV7	TTLL2_HUMAN	529	Q	H	Polymorphism	-
Q9BWV7	TTLL2_HUMAN	445	G	S	Polymorphism	-
Q9BWV7	TTLL2_HUMAN	3	G	R	Polymorphism	-
Q9BWW7	SCRT1_HUMAN	133	S	A	Polymorphism	-
Q9BWW8	APOL6_HUMAN	173	N	K	Polymorphism	-
Q9BWW9	APOL5_HUMAN	272	T	M	Polymorphism	-
Q9BWW9	APOL5_HUMAN	323	T	M	Polymorphism	-
Q9BWW9	APOL5_HUMAN	406	S	C	Polymorphism	-
Q9BWW9	APOL5_HUMAN	81	E	K	Polymorphism	-
Q9BWX1	PHF7_HUMAN	369	K	N	Unclassified	A breast cancer sample
Q9BWX5	GATA5_HUMAN	252	T	P	Disease	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	132	R	G	Unclassified	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	200	W	G	Disease	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	240	G	D	Disease	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	190	V	A	Unclassified	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	187	R	G	Disease	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	67	T	P	Polymorphism	-
Q9BWX5	GATA5_HUMAN	218	K	T	Unclassified	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	199	L	V	Disease	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	142	Y	H	Unclassified	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	266	A	P	Unclassified	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	207	H	R	Disease	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	274	H	R	Unclassified	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	166	G	S	Polymorphism	-
Q9BWX5	GATA5_HUMAN	184	G	V	Unclassified	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	19	S	W	Polymorphism	-
Q9BWX5	GATA5_HUMAN	138	Y	F	Disease	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	203	D	E	Unclassified	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	16	Y	D	Disease	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	210	C	G	Disease	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	223	N	H	Unclassified	Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
Q9BWX5	GATA5_HUMAN	3	Q	R	Polymorphism	-
Q9BX26	SYCP2_HUMAN	751	T	I	Polymorphism	-
Q9BX26	SYCP2_HUMAN	1155	V	A	Polymorphism	-
Q9BX26	SYCP2_HUMAN	353	T	K	Polymorphism	-
Q9BX26	SYCP2_HUMAN	523	P	L	Polymorphism	-
Q9BX59	TPSNR_HUMAN	165	T	A	Polymorphism	-
Q9BX59	TPSNR_HUMAN	334	T	M	Polymorphism	-
Q9BX59	TPSNR_HUMAN	42	A	V	Polymorphism	-
Q9BX59	TPSNR_HUMAN	146	M	V	Polymorphism	-
Q9BX59	TPSNR_HUMAN	169	A	V	Polymorphism	-
Q9BX59	TPSNR_HUMAN	151	G	R	Polymorphism	-
Q9BX63	FANCJ_HUMAN	264	R	W	Polymorphism	-
Q9BX63	FANCJ_HUMAN	193	V	I	Polymorphism	-
Q9BX63	FANCJ_HUMAN	707	R	C	Disease	Fanconi anemia complementation group J (FANCJ) [MIM:609054]
Q9BX63	FANCJ_HUMAN	935	V	G	Polymorphism	-
Q9BX63	FANCJ_HUMAN	540	Q	L	Polymorphism	-
Q9BX63	FANCJ_HUMAN	173	R	C	Polymorphism	-
Q9BX63	FANCJ_HUMAN	1148	D	E	Polymorphism	-
Q9BX63	FANCJ_HUMAN	832	C	Y	Polymorphism	-
Q9BX63	FANCJ_HUMAN	47	P	A	Disease	Breast cancer (BC) [MIM:114480]
Q9BX63	FANCJ_HUMAN	195	L	P	Polymorphism	-
Q9BX63	FANCJ_HUMAN	647	W	C	Disease	Fanconi anemia complementation group J (FANCJ) [MIM:609054]
Q9BX63	FANCJ_HUMAN	633	I	M	Polymorphism	-
Q9BX63	FANCJ_HUMAN	531	F	V	Polymorphism	-
Q9BX63	FANCJ_HUMAN	419	R	W	Polymorphism	-
Q9BX63	FANCJ_HUMAN	1034	P	L	Unclassified	A patient with ovarian cancer
Q9BX63	FANCJ_HUMAN	255	Q	H	Disease	Fanconi anemia complementation group J (FANCJ) [MIM:609054]
Q9BX63	FANCJ_HUMAN	299	M	I	Disease	Breast cancer (BC) [MIM:114480]
Q9BX63	FANCJ_HUMAN	349	A	P	Disease	Fanconi anemia complementation group J (FANCJ) [MIM:609054]
Q9BX63	FANCJ_HUMAN	919	S	P	Polymorphism	-
Q9BX66	SRBS1_HUMAN	237	T	A	Polymorphism	-
Q9BX66	SRBS1_HUMAN	61	L	P	Polymorphism	-
Q9BX66	SRBS1_HUMAN	485	Y	C	Polymorphism	-
Q9BX66	SRBS1_HUMAN	175	G	V	Polymorphism	-
Q9BX66	SRBS1_HUMAN	74	R	W	Polymorphism	-
Q9BX66	SRBS1_HUMAN	195	T	A	Unclassified	A breast cancer sample
Q9BX67	JAM3_HUMAN	219	C	Y	Disease	Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730]
Q9BX67	JAM3_HUMAN	116	E	K	Disease	Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730]
Q9BX69	CARD6_HUMAN	93	R	K	Polymorphism	-
Q9BX69	CARD6_HUMAN	575	A	D	Polymorphism	-
Q9BX69	CARD6_HUMAN	576	I	V	Polymorphism	-
Q9BX69	CARD6_HUMAN	395	M	K	Polymorphism	-
Q9BX69	CARD6_HUMAN	86	S	L	Polymorphism	-
Q9BX69	CARD6_HUMAN	426	D	V	Polymorphism	-
Q9BX79	STRA6_HUMAN	293	P	L	Disease	Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186]
Q9BX79	STRA6_HUMAN	339	G	S	Polymorphism	-
Q9BX79	STRA6_HUMAN	638	R	P	Polymorphism	-
Q9BX79	STRA6_HUMAN	321	T	P	Disease	Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186]
Q9BX79	STRA6_HUMAN	438	Q	R	Polymorphism	-
Q9BX79	STRA6_HUMAN	90	P	L	Disease	Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186]
Q9BX79	STRA6_HUMAN	304	G	K	Disease	Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186]
Q9BX79	STRA6_HUMAN	517	L	F	Polymorphism	-
Q9BX79	STRA6_HUMAN	644	T	M	Disease	Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186]
Q9BX79	STRA6_HUMAN	527	M	I	Polymorphism	-
Q9BX79	STRA6_HUMAN	217	G	E	Polymorphism	-
Q9BX79	STRA6_HUMAN	655	R	C	Disease	Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186]
Q9BX82	ZN471_HUMAN	192	M	I	Polymorphism	-
Q9BX82	ZN471_HUMAN	309	Q	R	Polymorphism	-
Q9BX82	ZN471_HUMAN	406	G	D	Polymorphism	-
Q9BX82	ZN471_HUMAN	556	S	C	Polymorphism	-
Q9BX82	ZN471_HUMAN	361	F	C	Unclassified	A colorectal cancer sample
Q9BX84	TRPM6_HUMAN	1393	V	I	Polymorphism	-
Q9BX84	TRPM6_HUMAN	948	F	L	Polymorphism	-
Q9BX84	TRPM6_HUMAN	75	G	V	Unclassified	A lung adenocarcinoma sample
Q9BX84	TRPM6_HUMAN	1274	Q	R	Polymorphism	-
Q9BX84	TRPM6_HUMAN	1673	L	S	Polymorphism	-
Q9BX84	TRPM6_HUMAN	1584	K	E	Polymorphism	-
Q9BX84	TRPM6_HUMAN	708	L	P	Disease	Hypomagnesemia 1 (HOMG1) [MIM:602014]
Q9BX84	TRPM6_HUMAN	872	E	G	Disease	Hypomagnesemia 1 (HOMG1) [MIM:602014]
Q9BX84	TRPM6_HUMAN	1071	N	D	Polymorphism	-
Q9BX84	TRPM6_HUMAN	1663	Q	R	Polymorphism	-
Q9BX84	TRPM6_HUMAN	141	S	L	Disease	Hypomagnesemia 1 (HOMG1) [MIM:602014]
Q9BX84	TRPM6_HUMAN	1754	S	N	Disease	Hypomagnesemia 1 (HOMG1) [MIM:602014]
Q9BX84	TRPM6_HUMAN	1143	L	P	Disease	Hypomagnesemia 1 (HOMG1) [MIM:602014]
Q9BX84	TRPM6_HUMAN	1724	T	I	Polymorphism	-
Q9BX84	TRPM6_HUMAN	338	M	I	Polymorphism	-
Q9BX84	TRPM6_HUMAN	1007	W	C	Unclassified	A lung large cell carcinoma sample
Q9BX84	TRPM6_HUMAN	1053	Y	C	Disease	Hypomagnesemia 1 (HOMG1) [MIM:602014]
Q9BX84	TRPM6_HUMAN	1243	H	R	Polymorphism	-
Q9BX97	PLVAP_HUMAN	34	L	P	Disease	Diarrhea 10, protein-losing enteropathy type (DIAR10) [MIM:618183]
Q9BXA7	TSSK1_HUMAN	233	V	L	Polymorphism	-
Q9BXA7	TSSK1_HUMAN	293	G	E	Polymorphism	-
Q9BXA7	TSSK1_HUMAN	50	A	T	Polymorphism	-
Q9BXA7	TSSK1_HUMAN	83	H	Y	Polymorphism	-
Q9BXA7	TSSK1_HUMAN	288	G	W	Polymorphism	-
Q9BXA7	TSSK1_HUMAN	237	R	C	Polymorphism	-
Q9BXA9	SALL3_HUMAN	593	L	V	Polymorphism	-
Q9BXA9	SALL3_HUMAN	143	R	H	Unclassified	A colorectal cancer sample
Q9BXA9	SALL3_HUMAN	533	T	A	Polymorphism	-
Q9BXB1	LGR4_HUMAN	233	N	S	Polymorphism	-
Q9BXB1	LGR4_HUMAN	480	A	V	Polymorphism	-
Q9BXB1	LGR4_HUMAN	844	D	G	Polymorphism	-
Q9BXB1	LGR4_HUMAN	215	S	G	Polymorphism	-
Q9BXB1	LGR4_HUMAN	684	R	G	Polymorphism	-
Q9BXB1	LGR4_HUMAN	709	T	M	Polymorphism	-
Q9BXB4	OSB11_HUMAN	184	S	L	Unclassified	A breast cancer sample
Q9BXB5	OSB10_HUMAN	254	N	D	Polymorphism	-
Q9BXB7	SPT16_HUMAN	564	Q	R	Polymorphism	-
Q9BXB7	SPT16_HUMAN	286	M	V	Polymorphism	-
Q9BXB7	SPT16_HUMAN	509	A	V	Polymorphism	-
Q9BXB7	SPT16_HUMAN	147	G	E	Polymorphism	-
Q9BXB7	SPT16_HUMAN	526	M	T	Polymorphism	-
Q9BXB7	SPT16_HUMAN	133	M	V	Polymorphism	-
Q9BXB7	SPT16_HUMAN	78	E	K	Polymorphism	-
Q9BXB7	SPT16_HUMAN	283	R	Q	Disease	Spermatogenic failure 6 (SPGF6) [MIM:102530]
Q9BXB7	SPT16_HUMAN	423	V	M	Polymorphism	-
Q9BXB7	SPT16_HUMAN	90	E	G	Polymorphism	-
Q9BXB7	SPT16_HUMAN	50	N	S	Polymorphism	-
Q9BXC0	HCAR1_HUMAN	43	H	Q	Polymorphism	-
Q9BXC0	HCAR1_HUMAN	253	D	E	Polymorphism	-
Q9BXC0	HCAR1_HUMAN	253	D	H	Polymorphism	-
Q9BXC1	GP174_HUMAN	162	S	P	Polymorphism	-
Q9BXC9	BBS2_HUMAN	136	A	P	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	629	E	K	Polymorphism	-
Q9BXC9	BBS2_HUMAN	81	G	C	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	315	R	Q	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	134	P	R	Disease	Retinitis pigmentosa 74 (RP74) [MIM:616562]
Q9BXC9	BBS2_HUMAN	307	C	W	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	317	Y	C	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	104	D	A	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	315	R	W	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	125	L	R	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	643	R	H	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	632	R	P	Disease	Retinitis pigmentosa 74 (RP74) [MIM:616562]
Q9BXC9	BBS2_HUMAN	70	N	S	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	75	V	G	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	104	D	A	Disease	Retinitis pigmentosa 74 (RP74) [MIM:616562]
Q9BXC9	BBS2_HUMAN	349	L	W	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	558	T	I	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	122	A	V	Polymorphism	-
Q9BXC9	BBS2_HUMAN	123	I	V	Polymorphism	-
Q9BXC9	BBS2_HUMAN	632	R	P	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	23	R	P	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	139	G	V	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	174	D	E	Disease	Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
Q9BXC9	BBS2_HUMAN	33	A	D	Disease	Retinitis pigmentosa 74 (RP74) [MIM:616562]
Q9BXC9	BBS2_HUMAN	504	A	V	Polymorphism	-
Q9BXF3	CECR2_HUMAN	293	R	H	Polymorphism	-
Q9BXF3	CECR2_HUMAN	674	P	L	Polymorphism	-
Q9BXF9	TEKT3_HUMAN	410	E	D	Polymorphism	-
Q9BXF9	TEKT3_HUMAN	296	V	A	Polymorphism	-
Q9BXF9	TEKT3_HUMAN	282	G	A	Polymorphism	-
Q9BXF9	TEKT3_HUMAN	3	R	H	Polymorphism	-
Q9BXG8	SPZ1_HUMAN	302	E	K	Polymorphism	-
Q9BXG8	SPZ1_HUMAN	17	V	L	Polymorphism	-
Q9BXI2	ORNT2_HUMAN	226	V	I	Polymorphism	-
Q9BXI2	ORNT2_HUMAN	159	G	C	Polymorphism	-
Q9BXI2	ORNT2_HUMAN	181	V	G	Polymorphism	-
Q9BXI6	TB10A_HUMAN	411	R	H	Polymorphism	-
Q9BXI9	C1QT6_HUMAN	138	P	L	Polymorphism	-
Q9BXI9	C1QT6_HUMAN	226	R	H	Polymorphism	-
Q9BXI9	C1QT6_HUMAN	55	G	D	Polymorphism	-
Q9BXI9	C1QT6_HUMAN	21	G	V	Polymorphism	-
Q9BXI9	C1QT6_HUMAN	42	P	R	Polymorphism	-
Q9BXJ0	C1QT5_HUMAN	163	S	R	Disease	Late-onset retinal degeneration (LORD) [MIM:605670]
Q9BXJ0	C1QT5_HUMAN	44	Q	R	Polymorphism	-
Q9BXJ1	C1QT1_HUMAN	241	R	Q	Polymorphism	-
Q9BXJ3	C1QT4_HUMAN	198	H	Q	Unclassified	-
Q9BXJ3	C1QT4_HUMAN	301	G	D	Unclassified	-
Q9BXJ7	AMNLS_HUMAN	234	C	F	Disease	Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]
Q9BXJ7	AMNLS_HUMAN	41	T	I	Disease	Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]
Q9BXJ7	AMNLS_HUMAN	69	M	K	Disease	Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]
Q9BXJ8	T120A_HUMAN	201	T	A	Polymorphism	-
Q9BXJ8	T120A_HUMAN	86	Q	R	Polymorphism	-
Q9BXJ9	NAA15_HUMAN	450	K	E	Unclassified	Mental retardation, autosomal dominant 50 (MRD50) [MIM:617787]
Q9BXJ9	NAA15_HUMAN	112	D	N	Unclassified	Mental retardation, autosomal dominant 50 (MRD50) [MIM:617787]
Q9BXJ9	NAA15_HUMAN	475	A	V	Unclassified	Mental retardation, autosomal dominant 50 (MRD50) [MIM:617787]
Q9BXK5	B2L13_HUMAN	55	I	V	Polymorphism	-
Q9BXK5	B2L13_HUMAN	46	I	R	Polymorphism	-
Q9BXK5	B2L13_HUMAN	46	I	T	Polymorphism	-
Q9BXK5	B2L13_HUMAN	360	P	S	Polymorphism	-
Q9BXL6	CAR14_HUMAN	883	R	H	Polymorphism	-
Q9BXL6	CAR14_HUMAN	547	R	S	Polymorphism	-
Q9BXL6	CAR14_HUMAN	142	E	G	Disease	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	639	A	G	Unclassified	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	151	R	Q	Unclassified	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	209	L	P	Unclassified	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	585	V	I	Polymorphism	-
Q9BXL6	CAR14_HUMAN	127	C	S	Disease	Pityriasis rubra pilaris (PRP) [MIM:173200]
Q9BXL6	CAR14_HUMAN	602	S	L	Unclassified	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	338	M	V	Unclassified	-
Q9BXL6	CAR14_HUMAN	38	R	C	Polymorphism	-
Q9BXL6	CAR14_HUMAN	216	A	T	Unclassified	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	151	R	W	Unclassified	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	420	T	A	Unclassified	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	820	R	W	Polymorphism	-
Q9BXL6	CAR14_HUMAN	150	L	R	Disease	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	714	G	S	Polymorphism	-
Q9BXL6	CAR14_HUMAN	197	E	K	Disease	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	117	G	S	Disease	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	973	D	E	Polymorphism	-
Q9BXL6	CAR14_HUMAN	357	L	P	Polymorphism	-
Q9BXL6	CAR14_HUMAN	350	L	P	Polymorphism	-
Q9BXL6	CAR14_HUMAN	962	R	Q	Polymorphism	-
Q9BXL6	CAR14_HUMAN	218	R	C	Unclassified	-
Q9BXL6	CAR14_HUMAN	200	S	N	Polymorphism	-
Q9BXL6	CAR14_HUMAN	179	R	H	Polymorphism	-
Q9BXL6	CAR14_HUMAN	191	V	L	Polymorphism	-
Q9BXL6	CAR14_HUMAN	136	Q	L	Disease	Pityriasis rubra pilaris (PRP) [MIM:173200]
Q9BXL6	CAR14_HUMAN	69	R	W	Disease	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	682	R	W	Polymorphism	-
Q9BXL6	CAR14_HUMAN	62	R	Q	Polymorphism	-
Q9BXL6	CAR14_HUMAN	138	E	A	Disease	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	142	E	K	Disease	Psoriasis 2 (PSORS2) [MIM:602723]
Q9BXL6	CAR14_HUMAN	117	G	S	Disease	Pityriasis rubra pilaris (PRP) [MIM:173200]
Q9BXL6	CAR14_HUMAN	171	H	N	Polymorphism	-
Q9BXL6	CAR14_HUMAN	285	D	G	Polymorphism	-
Q9BXL6	CAR14_HUMAN	176	D	H	Polymorphism	-
Q9BXL6	CAR14_HUMAN	156	L	P	Disease	Pityriasis rubra pilaris (PRP) [MIM:173200]
Q9BXL6	CAR14_HUMAN	593	I	N	Polymorphism	-
Q9BXL7	CAR11_HUMAN	194	L	P	Disease	Immunodeficiency 11B with atopic dermatitis (IMD11B) [MIM:617638]
Q9BXL7	CAR11_HUMAN	694	S	L	Polymorphism	-
Q9BXL7	CAR11_HUMAN	670	T	M	Polymorphism	-
Q9BXL7	CAR11_HUMAN	123	G	S	Disease	B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452]
Q9BXL7	CAR11_HUMAN	57	E	D	Disease	Immunodeficiency 11B with atopic dermatitis (IMD11B) [MIM:617638]
Q9BXL7	CAR11_HUMAN	975	R	W	Disease	Immunodeficiency 11B with atopic dermatitis (IMD11B) [MIM:617638]
Q9BXL7	CAR11_HUMAN	134	E	G	Disease	B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452]
Q9BXM0	PRAX_HUMAN	921	I	M	Polymorphism	-
Q9BXM0	PRAX_HUMAN	1259	E	K	Polymorphism	-
Q9BXM0	PRAX_HUMAN	1083	P	R	Polymorphism	-
Q9BXM0	PRAX_HUMAN	525	V	A	Polymorphism	-
Q9BXM0	PRAX_HUMAN	935	K	E	Polymorphism	-
Q9BXM0	PRAX_HUMAN	1335	R	Q	Unclassified	-
Q9BXM0	PRAX_HUMAN	882	V	A	Polymorphism	-
Q9BXM0	PRAX_HUMAN	1411	R	C	Polymorphism	-
Q9BXM0	PRAX_HUMAN	651	D	N	Disease	Charcot-Marie-Tooth disease 4F (CMT4F) [MIM:614895]
Q9BXM0	PRAX_HUMAN	406	A	T	Polymorphism	-
Q9BXM0	PRAX_HUMAN	495	E	Q	Polymorphism	-
Q9BXM0	PRAX_HUMAN	1132	G	R	Polymorphism	-
Q9BXM7	PINK1_HUMAN	235	N	I	Polymorphism	-
Q9BXM7	PINK1_HUMAN	313	T	M	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	240	E	K	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	124	A	V	Polymorphism	-
Q9BXM7	PINK1_HUMAN	98	R	W	Polymorphism	-
Q9BXM7	PINK1_HUMAN	67	L	F	Polymorphism	-
Q9BXM7	PINK1_HUMAN	196	P	L	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	263	R	G	Polymorphism	-
Q9BXM7	PINK1_HUMAN	477	S	T	Polymorphism	-
Q9BXM7	PINK1_HUMAN	296	P	L	Polymorphism	-
Q9BXM7	PINK1_HUMAN	147	R	H	Unclassified	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	145	T	M	Polymorphism	-
Q9BXM7	PINK1_HUMAN	257	T	I	Polymorphism	-
Q9BXM7	PINK1_HUMAN	271	H	Q	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	280	A	T	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	318	M	L	Polymorphism	-
Q9BXM7	PINK1_HUMAN	92	C	F	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	209	P	L	Polymorphism	-
Q9BXM7	PINK1_HUMAN	341	M	I	Polymorphism	-
Q9BXM7	PINK1_HUMAN	377	C	F	Polymorphism	-
Q9BXM7	PINK1_HUMAN	383	A	T	Polymorphism	-
Q9BXM7	PINK1_HUMAN	68	R	P	Polymorphism	-
Q9BXM7	PINK1_HUMAN	111	I	S	Polymorphism	-
Q9BXM7	PINK1_HUMAN	279	R	H	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	196	P	S	Polymorphism	-
Q9BXM7	PINK1_HUMAN	217	A	D	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	451	N	S	Polymorphism	-
Q9BXM7	PINK1_HUMAN	317	V	I	Polymorphism	-
Q9BXM7	PINK1_HUMAN	347	L	P	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	417	E	G	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	339	A	T	Polymorphism	-
Q9BXM7	PINK1_HUMAN	521	N	T	Polymorphism	-
Q9BXM7	PINK1_HUMAN	305	P	L	Polymorphism	-
Q9BXM7	PINK1_HUMAN	186	K	N	Polymorphism	-
Q9BXM7	PINK1_HUMAN	369	L	P	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	115	Q	L	Polymorphism	-
Q9BXM7	PINK1_HUMAN	386	G	A	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	215	P	L	Unclassified	A glioblastoma multiforme sample
Q9BXM7	PINK1_HUMAN	168	A	P	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	148	L	W	Polymorphism	-
Q9BXM7	PINK1_HUMAN	425	P	S	Polymorphism	-
Q9BXM7	PINK1_HUMAN	362	D	H	Polymorphism	-
Q9BXM7	PINK1_HUMAN	575	C	R	Unclassified	-
Q9BXM7	PINK1_HUMAN	464	R	H	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	322	P	L	Polymorphism	-
Q9BXM7	PINK1_HUMAN	340	A	T	Polymorphism	-
Q9BXM7	PINK1_HUMAN	309	G	D	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	231	E	G	Polymorphism	-
Q9BXM7	PINK1_HUMAN	399	P	L	Disease	-
Q9BXM7	PINK1_HUMAN	409	G	V	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	126	Q	P	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	388	C	R	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	170	V	G	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	501	R	P	Polymorphism	-
Q9BXM7	PINK1_HUMAN	125	C	G	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	476	E	K	Polymorphism	-
Q9BXM7	PINK1_HUMAN	525	D	N	Polymorphism	-
Q9BXM7	PINK1_HUMAN	411	G	S	Polymorphism	-
Q9BXM7	PINK1_HUMAN	461	L	S	Polymorphism	-
Q9BXM7	PINK1_HUMAN	395	G	V	Polymorphism	-
Q9BXM7	PINK1_HUMAN	431	Y	H	Polymorphism	-
Q9BXM7	PINK1_HUMAN	268	L	V	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	407	R	Q	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	489	L	P	Disease	Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7	PINK1_HUMAN	442	I	T	Polymorphism	-
Q9BXM7	PINK1_HUMAN	276	R	Q	Polymorphism	-
Q9BXM7	PINK1_HUMAN	537	A	T	Polymorphism	-
Q9BXN2	CLC7A_HUMAN	223	I	S	Polymorphism	-
Q9BXN6	SPNXD_HUMAN	68	V	L	Polymorphism	-
Q9BXP8	PAPP2_HUMAN	1657	P	R	Polymorphism	-
Q9BXP8	PAPP2_HUMAN	171	T	S	Polymorphism	-
Q9BXR5	TLR10_HUMAN	326	M	T	Polymorphism	-
Q9BXR5	TLR10_HUMAN	799	R	P	Polymorphism	-
Q9BXR5	TLR10_HUMAN	167	L	P	Polymorphism	-
Q9BXR5	TLR10_HUMAN	163	A	S	Polymorphism	-
Q9BXR5	TLR10_HUMAN	469	R	G	Polymorphism	-
Q9BXR5	TLR10_HUMAN	381	G	D	Polymorphism	-
Q9BXR5	TLR10_HUMAN	369	I	L	Polymorphism	-
Q9BXR5	TLR10_HUMAN	241	N	H	Polymorphism	-
Q9BXR5	TLR10_HUMAN	736	Y	C	Polymorphism	-
Q9BXR5	TLR10_HUMAN	799	R	L	Polymorphism	-
Q9BXR5	TLR10_HUMAN	473	I	T	Polymorphism	-
Q9BXR5	TLR10_HUMAN	298	V	I	Polymorphism	-
Q9BXR5	TLR10_HUMAN	775	I	V	Polymorphism	-
Q9BXR5	TLR10_HUMAN	525	R	W	Polymorphism	-
Q9BXR5	TLR10_HUMAN	775	I	F	Polymorphism	-
Q9BXR5	TLR10_HUMAN	775	I	L	Polymorphism	-
Q9BXR5	TLR10_HUMAN	799	R	Q	Polymorphism	-
Q9BXR6	FHR5_HUMAN	356	R	H	Polymorphism	-
Q9BXR6	FHR5_HUMAN	216	N	S	Unclassified	A breast cancer sample
Q9BXR6	FHR5_HUMAN	46	P	S	Polymorphism	-
Q9BXR6	FHR5_HUMAN	529	L	R	Polymorphism	-
Q9BXR6	FHR5_HUMAN	436	W	C	Polymorphism	-
Q9BXR6	FHR5_HUMAN	195	S	T	Polymorphism	-
Q9BXR6	FHR5_HUMAN	521	L	I	Polymorphism	-
Q9BXR6	FHR5_HUMAN	379	V	L	Polymorphism	-
Q9BXR6	FHR5_HUMAN	105	L	R	Polymorphism	-
Q9BXR6	FHR5_HUMAN	277	Y	N	Polymorphism	-
Q9BXS0	COPA1_HUMAN	382	G	R	Disease	Fibrosis of extraocular muscles, congenital, 5 (CFEOM5) [MIM:616219]
Q9BXS4	TMM59_HUMAN	46	A	V	Polymorphism	-
Q9BXS5	AP1M1_HUMAN	303	R	Q	Unclassified	A breast cancer sample
Q9BXS6	NUSAP_HUMAN	33	T	A	Polymorphism	-
Q9BXS6	NUSAP_HUMAN	33	T	N	Polymorphism	-
Q9BXS9	S26A6_HUMAN	206	V	M	Polymorphism	-
Q9BXT2	CCG6_HUMAN	252	C	S	Polymorphism	-
Q9BXT4	TDRD1_HUMAN	1138	Y	C	Polymorphism	-
Q9BXT4	TDRD1_HUMAN	864	V	L	Polymorphism	-
Q9BXT5	TEX15_HUMAN	1311	N	S	Polymorphism	-
Q9BXT5	TEX15_HUMAN	1439	K	R	Polymorphism	-
Q9BXT5	TEX15_HUMAN	2138	D	N	Polymorphism	-
Q9BXT5	TEX15_HUMAN	1035	I	V	Polymorphism	-
Q9BXT5	TEX15_HUMAN	104	C	R	Polymorphism	-
Q9BXT5	TEX15_HUMAN	1337	L	V	Polymorphism	-
Q9BXT5	TEX15_HUMAN	383	P	L	Polymorphism	-
Q9BXT6	M10L1_HUMAN	18	T	S	Polymorphism	-
Q9BXT6	M10L1_HUMAN	454	I	L	Polymorphism	-
Q9BXT6	M10L1_HUMAN	820	Q	R	Polymorphism	-
Q9BXT6	M10L1_HUMAN	1179	A	E	Polymorphism	-
Q9BXT6	M10L1_HUMAN	650	V	I	Polymorphism	-
Q9BXT6	M10L1_HUMAN	57	M	L	Polymorphism	-
Q9BXT6	M10L1_HUMAN	182	R	C	Polymorphism	-
Q9BXT6	M10L1_HUMAN	683	S	G	Polymorphism	-
Q9BXT8	RNF17_HUMAN	501	S	G	Polymorphism	-
Q9BXT8	RNF17_HUMAN	667	H	R	Polymorphism	-
Q9BXT8	RNF17_HUMAN	1380	E	K	Polymorphism	-
Q9BXT8	RNF17_HUMAN	467	G	S	Polymorphism	-
Q9BXT8	RNF17_HUMAN	573	A	P	Polymorphism	-
Q9BXT8	RNF17_HUMAN	1110	N	K	Polymorphism	-
Q9BXT8	RNF17_HUMAN	346	K	N	Polymorphism	-
Q9BXU1	STK31_HUMAN	860	V	L	Unclassified	A lung small cell carcinoma sample
Q9BXU1	STK31_HUMAN	623	S	I	Polymorphism	-
Q9BXU1	STK31_HUMAN	268	K	N	Polymorphism	-
Q9BXU1	STK31_HUMAN	600	A	T	Polymorphism	-
Q9BXU1	STK31_HUMAN	71	Q	H	Polymorphism	-
Q9BXU1	STK31_HUMAN	393	A	T	Polymorphism	-
Q9BXU1	STK31_HUMAN	125	S	F	Polymorphism	-
Q9BXU1	STK31_HUMAN	684	H	R	Polymorphism	-
Q9BXU1	STK31_HUMAN	410	G	E	Polymorphism	-
Q9BXU1	STK31_HUMAN	1010	T	S	Polymorphism	-
Q9BXU1	STK31_HUMAN	362	T	P	Polymorphism	-
Q9BXU1	STK31_HUMAN	621	N	K	Polymorphism	-
Q9BXU1	STK31_HUMAN	684	H	Y	Unclassified	A lung neuroendocrine carcinoma sample
Q9BXU1	STK31_HUMAN	277	I	K	Polymorphism	-
Q9BXU1	STK31_HUMAN	385	R	C	Polymorphism	-
Q9BXU1	STK31_HUMAN	1009	K	T	Polymorphism	-
Q9BXU1	STK31_HUMAN	1000	T	M	Polymorphism	-
Q9BXU1	STK31_HUMAN	709	E	K	Polymorphism	-
Q9BXU1	STK31_HUMAN	489	A	P	Polymorphism	-
Q9BXU1	STK31_HUMAN	261	E	K	Polymorphism	-
Q9BXU7	UBP26_HUMAN	517	L	F	Polymorphism	-
Q9BXU7	UBP26_HUMAN	364	L	F	Polymorphism	-
Q9BXU7	UBP26_HUMAN	475	H	Y	Polymorphism	-
Q9BXU7	UBP26_HUMAN	165	L	S	Polymorphism	-
Q9BXU7	UBP26_HUMAN	579	M	I	Polymorphism	-
Q9BXU8	FHL17_HUMAN	138	Y	H	Polymorphism	-
Q9BXU8	FHL17_HUMAN	120	Q	H	Polymorphism	-
Q9BXW6	OSBL1_HUMAN	810	S	P	Polymorphism	-
Q9BXW7	HDHD5_HUMAN	179	T	M	Polymorphism	-
Q9BXW7	HDHD5_HUMAN	369	R	S	Polymorphism	-
Q9BXW7	HDHD5_HUMAN	416	R	C	Polymorphism	-
Q9BXW9	FACD2_HUMAN	33	K	R	Polymorphism	-
Q9BXW9	FACD2_HUMAN	302	R	W	Disease	Fanconi anemia complementation group D2 (FANCD2) [MIM:227646]
Q9BXW9	FACD2_HUMAN	328	R	Q	Polymorphism	-
Q9BXW9	FACD2_HUMAN	61	T	M	Polymorphism	-
Q9BXW9	FACD2_HUMAN	901	G	V	Polymorphism	-
Q9BXW9	FACD2_HUMAN	126	S	G	Disease	Fanconi anemia complementation group D2 (FANCD2) [MIM:227646]
Q9BXW9	FACD2_HUMAN	623	Q	P	Polymorphism	-
Q9BXW9	FACD2_HUMAN	65	Q	H	Polymorphism	-
Q9BXW9	FACD2_HUMAN	714	P	L	Polymorphism	-
Q9BXW9	FACD2_HUMAN	446	L	V	Polymorphism	-
Q9BXW9	FACD2_HUMAN	1236	R	H	Disease	Fanconi anemia complementation group D2 (FANCD2) [MIM:227646]
Q9BXW9	FACD2_HUMAN	456	L	R	Polymorphism	-
Q9BXW9	FACD2_HUMAN	172	I	M	Polymorphism	-
Q9BXW9	FACD2_HUMAN	865	K	R	Polymorphism	-
Q9BXW9	FACD2_HUMAN	193	T	A	Polymorphism	-
Q9BXX0	EMIL2_HUMAN	259	M	V	Polymorphism	-
Q9BXX0	EMIL2_HUMAN	215	A	T	Polymorphism	-
Q9BXX0	EMIL2_HUMAN	903	P	S	Polymorphism	-
Q9BXX2	AN30B_HUMAN	375	V	M	Polymorphism	-
Q9BXX2	AN30B_HUMAN	477	F	L	Polymorphism	-
Q9BXX3	AN30A_HUMAN	985	R	C	Polymorphism	-
Q9BXX3	AN30A_HUMAN	227	Q	E	Unclassified	A breast cancer sample
Q9BXX3	AN30A_HUMAN	611	T	A	Polymorphism	-
Q9BXX3	AN30A_HUMAN	917	K	N	Polymorphism	-
Q9BXY0	MAK16_HUMAN	277	Q	R	Polymorphism	-
Q9BXY5	CAYP2_HUMAN	125	L	F	Polymorphism	-
Q9BY07	S4A5_HUMAN	251	S	N	Polymorphism	-
Q9BY07	S4A5_HUMAN	253	H	Y	Polymorphism	-
Q9BY10	TSCOT_HUMAN	366	A	V	Polymorphism	-
Q9BY11	PACN1_HUMAN	334	A	V	Polymorphism	-
Q9BY12	SCAPE_HUMAN	1219	S	N	Unclassified	Intellectual developmental disorder and retinitis pigmentosa (IDDRP) [MIM:618195]
Q9BY12	SCAPE_HUMAN	1140	A	T	Polymorphism	-
Q9BY12	SCAPE_HUMAN	1089	P	T	Polymorphism	-
Q9BY12	SCAPE_HUMAN	1139	A	T	Polymorphism	-
Q9BY14	TX101_HUMAN	99	G	V	Polymorphism	-
Q9BY15	AGRE3_HUMAN	236	A	V	Polymorphism	-
Q9BY15	AGRE3_HUMAN	385	R	Q	Polymorphism	-
Q9BY15	AGRE3_HUMAN	127	E	Q	Polymorphism	-
Q9BY19	M4A8_HUMAN	95	V	L	Polymorphism	-
Q9BY21	GPR87_HUMAN	191	D	Y	Unclassified	A colorectal cancer sample
Q9BY21	GPR87_HUMAN	205	T	M	Polymorphism	-
Q9BY27	DGC6L_HUMAN	115	V	L	Polymorphism	-
Q9BY27	DGC6L_HUMAN	195	N	K	Polymorphism	-
Q9BY32	ITPA_HUMAN	178	R	C	Unclassified	Epileptic encephalopathy, early infantile, 35 (EIEE35) [MIM:616647]
Q9BY32	ITPA_HUMAN	32	P	T	Disease	Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850]
Q9BY41	HDAC8_HUMAN	320	G	R	Disease	Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882]
Q9BY41	HDAC8_HUMAN	311	T	M	Disease	Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882]
Q9BY41	HDAC8_HUMAN	180	H	R	Disease	Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882]
Q9BY41	HDAC8_HUMAN	334	H	R	Disease	Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882]
Q9BY42	RTF2_HUMAN	171	M	V	Polymorphism	-
Q9BY42	RTF2_HUMAN	159	T	A	Polymorphism	-
Q9BY43	CHM4A_HUMAN	153	G	R	Polymorphism	-
Q9BY44	EIF2A_HUMAN	97	T	S	Polymorphism	-
Q9BY44	EIF2A_HUMAN	582	E	K	Polymorphism	-
Q9BY49	PECR_HUMAN	297	F	L	Polymorphism	-
Q9BY49	PECR_HUMAN	149	E	K	Polymorphism	-
Q9BY64	UDB28_HUMAN	447	I	R	Polymorphism	-
Q9BY64	UDB28_HUMAN	365	L	H	Polymorphism	-
Q9BY64	UDB28_HUMAN	458	H	D	Polymorphism	-
Q9BY66	KDM5D_HUMAN	1186	V	L	Polymorphism	-
Q9BY67	CADM1_HUMAN	285	D	E	Polymorphism	-
Q9BY76	ANGL4_HUMAN	230	R	C	Polymorphism	-
Q9BY76	ANGL4_HUMAN	278	R	Q	Polymorphism	-
Q9BY76	ANGL4_HUMAN	251	P	T	Polymorphism	-
Q9BY76	ANGL4_HUMAN	5	P	L	Polymorphism	-
Q9BY76	ANGL4_HUMAN	291	V	M	Polymorphism	-
Q9BY76	ANGL4_HUMAN	338	D	E	Polymorphism	-
Q9BY76	ANGL4_HUMAN	296	E	V	Polymorphism	-
Q9BY76	ANGL4_HUMAN	196	E	K	Polymorphism	-
Q9BY76	ANGL4_HUMAN	72	R	L	Polymorphism	-
Q9BY76	ANGL4_HUMAN	233	G	R	Polymorphism	-
Q9BY76	ANGL4_HUMAN	167	E	K	Polymorphism	-
Q9BY76	ANGL4_HUMAN	266	T	M	Polymorphism	-
Q9BY76	ANGL4_HUMAN	361	G	S	Polymorphism	-
Q9BY76	ANGL4_HUMAN	308	V	M	Polymorphism	-
Q9BY76	ANGL4_HUMAN	190	E	Q	Polymorphism	-
Q9BY76	ANGL4_HUMAN	307	P	S	Polymorphism	-
Q9BY76	ANGL4_HUMAN	41	M	I	Polymorphism	-
Q9BY76	ANGL4_HUMAN	174	P	S	Polymorphism	-
Q9BY76	ANGL4_HUMAN	77	G	R	Polymorphism	-
Q9BY76	ANGL4_HUMAN	371	R	Q	Polymorphism	-
Q9BY76	ANGL4_HUMAN	384	R	W	Polymorphism	-
Q9BY76	ANGL4_HUMAN	361	G	R	Polymorphism	-
Q9BY76	ANGL4_HUMAN	336	R	C	Polymorphism	-
Q9BY76	ANGL4_HUMAN	237	F	V	Polymorphism	-
Q9BY76	ANGL4_HUMAN	40	E	K	Polymorphism	-
Q9BY76	ANGL4_HUMAN	349	W	C	Polymorphism	-
Q9BY76	ANGL4_HUMAN	293	L	M	Polymorphism	-
Q9BY76	ANGL4_HUMAN	67	S	R	Polymorphism	-
Q9BY79	MFRP_HUMAN	259	S	D	Unclassified	-
Q9BY79	MFRP_HUMAN	539	R	C	Unclassified	-
Q9BY79	MFRP_HUMAN	54	R	G	Polymorphism	-
Q9BY79	MFRP_HUMAN	514	Q	H	Polymorphism	-
Q9BY79	MFRP_HUMAN	119	I	V	Polymorphism	-
Q9BY79	MFRP_HUMAN	517	R	W	Unclassified	-
Q9BY79	MFRP_HUMAN	222	P	T	Unclassified	-
Q9BY79	MFRP_HUMAN	449	G	S	Polymorphism	-
Q9BY79	MFRP_HUMAN	136	V	M	Polymorphism	-
Q9BY79	MFRP_HUMAN	182	I	T	Disease	Nanophthalmos 2 (NNO2) [MIM:609549]
Q9BY84	DUS16_HUMAN	366	V	M	Polymorphism	-
Q9BY84	DUS16_HUMAN	23	T	M	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	1566	S	G	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	224	A	T	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	1443	M	T	Unclassified	-
Q9BYB0	SHAN3_HUMAN	1298	R	K	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	1557	G	S	Unclassified	-
Q9BYB0	SHAN3_HUMAN	1654	P	T	Unclassified	-
Q9BYB0	SHAN3_HUMAN	1546	I	V	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	1645	P	T	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	1406	L	V	Unclassified	-
Q9BYB0	SHAN3_HUMAN	245	I	T	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	1452	A	S	Disease	Phelan-McDermid syndrome (PHMDS) [MIM:606232]
Q9BYB0	SHAN3_HUMAN	1134	P	H	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	1263	P	L	Unclassified	-
Q9BYB0	SHAN3_HUMAN	198	A	G	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	1333	V	G	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	12	R	C	Unclassified	-
Q9BYB0	SHAN3_HUMAN	300	R	C	Unclassified	-
Q9BYB0	SHAN3_HUMAN	321	Q	R	Unclassified	-
Q9BYB0	SHAN3_HUMAN	536	R	W	Disease	Schizophrenia 15 (SCZD15) [MIM:613950]
Q9BYB0	SHAN3_HUMAN	952	S	T	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	1173	A	T	Unclassified	-
Q9BYB0	SHAN3_HUMAN	720	A	T	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	1231	R	H	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	341	S	L	Unclassified	-
Q9BYB0	SHAN3_HUMAN	970	A	S	Unclassified	-
Q9BYB0	SHAN3_HUMAN	1011	G	V	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	493	H	Q	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	963	A	G	Polymorphism	-
Q9BYB0	SHAN3_HUMAN	141	P	A	Disease	Phelan-McDermid syndrome (PHMDS) [MIM:606232]
Q9BYB0	SHAN3_HUMAN	1010	G	V	Polymorphism	-
Q9BYB4	GNB1L_HUMAN	239	W	G	Polymorphism	-
Q9BYB4	GNB1L_HUMAN	37	R	H	Polymorphism	-
Q9BYB4	GNB1L_HUMAN	30	E	K	Polymorphism	-
Q9BYB4	GNB1L_HUMAN	296	A	T	Unclassified	A breast cancer sample
Q9BYC2	SCOT2_HUMAN	285	L	R	Polymorphism	-
Q9BYC2	SCOT2_HUMAN	250	E	D	Polymorphism	-
Q9BYC5	FUT8_HUMAN	267	T	K	Polymorphism	-
Q9BYC5	FUT8_HUMAN	101	K	Q	Polymorphism	-
Q9BYC5	FUT8_HUMAN	337	R	G	Disease	Congenital disorder of glycosylation with defective fucosylation 1 (CDGF1) [MIM:618005]
Q9BYD2	RM09_HUMAN	210	E	A	Polymorphism	-
Q9BYD2	RM09_HUMAN	67	E	G	Polymorphism	-
Q9BYD6	RM01_HUMAN	177	F	S	Polymorphism	-
Q9BYD6	RM01_HUMAN	47	T	K	Polymorphism	-
Q9BYD9	ACTT3_HUMAN	234	E	K	Polymorphism	-
Q9BYE0	HES7_HUMAN	186	D	Y	Disease	Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686]
Q9BYE0	HES7_HUMAN	25	R	W	Disease	Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686]
Q9BYE0	HES7_HUMAN	58	I	V	Disease	Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686]
Q9BYE3	LCE3D_HUMAN	81	G	V	Polymorphism	-
Q9BYE3	LCE3D_HUMAN	43	G	V	Polymorphism	-
Q9BYE9	CDHR2_HUMAN	107	Q	H	Polymorphism	-
Q9BYE9	CDHR2_HUMAN	948	V	M	Polymorphism	-
Q9BYE9	CDHR2_HUMAN	1004	P	L	Polymorphism	-
Q9BYE9	CDHR2_HUMAN	901	T	M	Polymorphism	-
Q9BYE9	CDHR2_HUMAN	424	V	A	Polymorphism	-
Q9BYE9	CDHR2_HUMAN	415	A	G	Polymorphism	-
Q9BYE9	CDHR2_HUMAN	1128	T	M	Polymorphism	-
Q9BYE9	CDHR2_HUMAN	1164	L	M	Polymorphism	-
Q9BYE9	CDHR2_HUMAN	766	L	P	Polymorphism	-
Q9BYF1	ACE2_HUMAN	26	K	R	Polymorphism	-
Q9BYF1	ACE2_HUMAN	638	N	S	Polymorphism	-
Q9BYG3	MK67I_HUMAN	144	P	Q	Polymorphism	-
Q9BYG7	MSTRO_HUMAN	134	T	A	Polymorphism	-
Q9BYG7	MSTRO_HUMAN	39	R	S	Polymorphism	-
Q9BYG8	GSDMC_HUMAN	150	R	K	Polymorphism	-
Q9BYG8	GSDMC_HUMAN	475	M	T	Polymorphism	-
Q9BYG8	GSDMC_HUMAN	23	P	S	Polymorphism	-
Q9BYH1	SE6L1_HUMAN	185	W	L	Polymorphism	-
Q9BYH1	SE6L1_HUMAN	430	M	I	Polymorphism	-
Q9BYH1	SE6L1_HUMAN	52	P	L	Polymorphism	-
Q9BYH1	SE6L1_HUMAN	671	Q	H	Polymorphism	-
Q9BYH8	IKBZ_HUMAN	307	T	S	Polymorphism	-
Q9BYI3	HYCCI_HUMAN	57	C	R	Disease	Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532]
Q9BYI3	HYCCI_HUMAN	217	R	Q	Polymorphism	-
Q9BYI3	HYCCI_HUMAN	53	L	P	Disease	Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532]
Q9BYJ0	FGFP2_HUMAN	84	F	L	Polymorphism	-
Q9BYJ0	FGFP2_HUMAN	90	P	S	Polymorphism	-
Q9BYJ0	FGFP2_HUMAN	28	S	N	Polymorphism	-
Q9BYJ1	LOXE3_HUMAN	237	L	M	Disease	Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
Q9BYJ1	LOXE3_HUMAN	500	V	F	Disease	Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
Q9BYJ1	LOXE3_HUMAN	396	R	S	Disease	Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
Q9BYJ1	LOXE3_HUMAN	427	L	P	Disease	Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
Q9BYJ1	LOXE3_HUMAN	281	G	V	Disease	Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
Q9BYJ1	LOXE3_HUMAN	630	P	L	Disease	Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
Q9BYJ4	TRI34_HUMAN	276	T	S	Polymorphism	-
Q9BYJ4	TRI34_HUMAN	282	D	H	Polymorphism	-
Q9BYJ4	TRI34_HUMAN	404	N	K	Polymorphism	-
Q9BYK8	HELZ2_HUMAN	2016	P	L	Polymorphism	-
Q9BYK8	HELZ2_HUMAN	1381	R	K	Polymorphism	-
Q9BYK8	HELZ2_HUMAN	2170	T	M	Polymorphism	-
Q9BYK8	HELZ2_HUMAN	1889	T	A	Polymorphism	-
Q9BYK8	HELZ2_HUMAN	788	S	N	Polymorphism	-
Q9BYK8	HELZ2_HUMAN	1123	H	R	Polymorphism	-
Q9BYK8	HELZ2_HUMAN	1152	S	L	Polymorphism	-
Q9BYK8	HELZ2_HUMAN	1308	V	L	Polymorphism	-
Q9BYK8	HELZ2_HUMAN	2049	Q	E	Polymorphism	-
Q9BYK8	HELZ2_HUMAN	1821	L	R	Polymorphism	-
Q9BYM8	HOIL1_HUMAN	387	N	S	Disease	Polyglucosan body myopathy 1 with or without immunodeficiency (PGBM1) [MIM:615895]
Q9BYM8	HOIL1_HUMAN	18	A	P	Disease	Polyglucosan body myopathy 1 with or without immunodeficiency (PGBM1) [MIM:615895]
Q9BYP7	WNK3_HUMAN	704	Q	H	Polymorphism	-
Q9BYP7	WNK3_HUMAN	1169	K	E	Polymorphism	-
Q9BYP7	WNK3_HUMAN	998	A	T	Polymorphism	-
Q9BYP7	WNK3_HUMAN	1634	S	P	Unclassified	A renal clear cell carcinoma sample
Q9BYP7	WNK3_HUMAN	1375	T	I	Polymorphism	-
Q9BYP7	WNK3_HUMAN	854	S	C	Unclassified	A lung squamous cell carcinoma sample
Q9BYP7	WNK3_HUMAN	1533	L	F	Unclassified	A lung large cell carcinoma sample
Q9BYP9	KRA99_HUMAN	36	P	S	Polymorphism	-
Q9BYP9	KRA99_HUMAN	56	C	S	Polymorphism	-
Q9BYQ2	KRA94_HUMAN	146	S	Y	Polymorphism	-
Q9BYQ4	KRA92_HUMAN	36	P	S	Polymorphism	-
Q9BYQ4	KRA92_HUMAN	56	C	S	Polymorphism	-
Q9BYQ7	KRA41_HUMAN	66	H	R	Polymorphism	-
Q9BYQ7	KRA41_HUMAN	134	A	T	Polymorphism	-
Q9BYQ7	KRA41_HUMAN	115	S	R	Polymorphism	-
Q9BYR0	KRA47_HUMAN	68	T	S	Polymorphism	-
Q9BYR0	KRA47_HUMAN	16	S	G	Polymorphism	-
Q9BYR0	KRA47_HUMAN	18	D	V	Polymorphism	-
Q9BYR0	KRA47_HUMAN	168	S	C	Polymorphism	-
Q9BYR2	KRA45_HUMAN	125	C	Y	Polymorphism	-
Q9BYR2	KRA45_HUMAN	6	C	R	Polymorphism	-
Q9BYR2	KRA45_HUMAN	22	R	C	Polymorphism	-
Q9BYR2	KRA45_HUMAN	67	R	H	Polymorphism	-
Q9BYR3	KRA44_HUMAN	35	C	S	Polymorphism	-
Q9BYR3	KRA44_HUMAN	154	R	S	Polymorphism	-
Q9BYR3	KRA44_HUMAN	25	Y	C	Polymorphism	-
Q9BYR4	KRA43_HUMAN	122	P	S	Polymorphism	-
Q9BYR4	KRA43_HUMAN	152	P	S	Polymorphism	-
Q9BYR5	KRA42_HUMAN	95	Y	C	Polymorphism	-
Q9BYR7	KRA32_HUMAN	27	R	C	Polymorphism	-
Q9BYR7	KRA32_HUMAN	46	I	T	Polymorphism	-
Q9BYR7	KRA32_HUMAN	8	S	G	Polymorphism	-
Q9BYS8	LRRC2_HUMAN	32	V	A	Polymorphism	-
Q9BYS8	LRRC2_HUMAN	145	A	E	Polymorphism	-
Q9BYS8	LRRC2_HUMAN	83	T	A	Polymorphism	-
Q9BYT1	S17A9_HUMAN	228	N	S	Polymorphism	-
Q9BYT1	S17A9_HUMAN	397	T	M	Polymorphism	-
Q9BYT1	S17A9_HUMAN	311	R	Q	Disease	Porokeratosis 8, disseminated superficial actinic type (POROK8) [MIM:616063]
Q9BYT1	S17A9_HUMAN	9	R	C	Disease	Porokeratosis 8, disseminated superficial actinic type (POROK8) [MIM:616063]
Q9BYT3	STK33_HUMAN	458	A	E	Polymorphism	-
Q9BYT3	STK33_HUMAN	436	D	E	Polymorphism	-
Q9BYT3	STK33_HUMAN	437	A	T	Polymorphism	-
Q9BYT3	STK33_HUMAN	98	E	D	Polymorphism	-
Q9BYT3	STK33_HUMAN	60	K	E	Polymorphism	-
Q9BYT3	STK33_HUMAN	160	L	V	Unclassified	A lung large cell carcinoma sample
Q9BYT8	NEUL_HUMAN	417	S	G	Polymorphism	-
Q9BYT8	NEUL_HUMAN	79	G	S	Polymorphism	-
Q9BYT8	NEUL_HUMAN	372	K	R	Polymorphism	-
Q9BYT8	NEUL_HUMAN	704	P	S	Polymorphism	-
Q9BYT8	NEUL_HUMAN	323	S	G	Polymorphism	-
Q9BYT9	ANO3_HUMAN	490	W	C	Disease	Dystonia 24 (DYT24) [MIM:615034]
Q9BYT9	ANO3_HUMAN	685	S	G	Disease	Dystonia 24 (DYT24) [MIM:615034]
Q9BYT9	ANO3_HUMAN	781	L	V	Polymorphism	-
Q9BYT9	ANO3_HUMAN	862	K	N	Disease	Dystonia 24 (DYT24) [MIM:615034]
Q9BYT9	ANO3_HUMAN	494	R	W	Disease	Dystonia 24 (DYT24) [MIM:615034]
Q9BYU1	PBX4_HUMAN	169	V	I	Polymorphism	-
Q9BYU1	PBX4_HUMAN	283	T	M	Unclassified	A colorectal cancer sample
Q9BYU1	PBX4_HUMAN	177	M	V	Polymorphism	-
Q9BYV1	AGT2_HUMAN	102	S	N	Polymorphism	-
Q9BYV1	AGT2_HUMAN	132	G	R	Polymorphism	-
Q9BYV1	AGT2_HUMAN	492	P	R	Polymorphism	-
Q9BYV1	AGT2_HUMAN	212	T	I	Polymorphism	-
Q9BYV1	AGT2_HUMAN	498	V	L	Polymorphism	-
Q9BYV1	AGT2_HUMAN	102	S	I	Polymorphism	-
Q9BYV1	AGT2_HUMAN	102	S	T	Polymorphism	-
Q9BYV1	AGT2_HUMAN	140	V	I	Polymorphism	-
Q9BYV6	TRI55_HUMAN	343	K	R	Polymorphism	-
Q9BYV6	TRI55_HUMAN	50	C	Y	Unclassified	-
Q9BYV6	TRI55_HUMAN	257	N	K	Polymorphism	-
Q9BYV6	TRI55_HUMAN	392	P	T	Unclassified	-
Q9BYV6	TRI55_HUMAN	258	V	I	Polymorphism	-
Q9BYV6	TRI55_HUMAN	488	A	T	Polymorphism	-
Q9BYV6	TRI55_HUMAN	506	T	S	Unclassified	-
Q9BYV6	TRI55_HUMAN	458	P	L	Polymorphism	-
Q9BYV6	TRI55_HUMAN	241	L	M	Unclassified	-
Q9BYV6	TRI55_HUMAN	452	K	N	Unclassified	-
Q9BYV6	TRI55_HUMAN	54	I	V	Polymorphism	-
Q9BYV6	TRI55_HUMAN	336	E	Q	Polymorphism	-
Q9BYV6	TRI55_HUMAN	252	S	F	Polymorphism	-
Q9BYV6	TRI55_HUMAN	79	P	A	Unclassified	-
Q9BYV6	TRI55_HUMAN	418	T	I	Polymorphism	-
Q9BYV7	BCDO2_HUMAN	231	L	P	Polymorphism	-
Q9BYV7	BCDO2_HUMAN	289	G	E	Polymorphism	-
Q9BYV7	BCDO2_HUMAN	548	I	L	Polymorphism	-
Q9BYV8	CEP41_HUMAN	240	C	G	Unclassified	-
Q9BYV8	CEP41_HUMAN	179	R	H	Disease	-
Q9BYV8	CEP41_HUMAN	36	M	T	Disease	-
Q9BYV8	CEP41_HUMAN	360	R	C	Disease	-
Q9BYV8	CEP41_HUMAN	89	Q	E	Unclassified	-
Q9BYV8	CEP41_HUMAN	206	P	A	Unclassified	-
Q9BYV9	BACH2_HUMAN	418	A	T	Polymorphism	-
Q9BYW1	GTR11_HUMAN	469	K	E	Polymorphism	-
Q9BYW1	GTR11_HUMAN	232	R	Q	Polymorphism	-
Q9BYW1	GTR11_HUMAN	420	I	F	Polymorphism	-
Q9BYW1	GTR11_HUMAN	60	D	N	Polymorphism	-
Q9BYW1	GTR11_HUMAN	301	R	Q	Polymorphism	-
Q9BYW2	SETD2_HUMAN	470	S	P	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	499	T	A	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	2122	R	W	Unclassified	Leukemia, acute myelogenous (AML) [MIM:601626]
Q9BYW2	SETD2_HUMAN	226	P	S	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	267	V	I	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1915	V	A	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	800	S	N	Unclassified	Leukemia, acute myelogenous (AML) [MIM:601626]
Q9BYW2	SETD2_HUMAN	1815	L	W	Unclassified	Luscan-Lumish syndrome (LLS) [MIM:616831]
Q9BYW2	SETD2_HUMAN	2505	F	L	Unclassified	Leukemia, acute myelogenous (AML) [MIM:601626]
Q9BYW2	SETD2_HUMAN	1654	K	Q	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	2361	P	S	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1076	S	P	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1351	D	G	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1733	N	D	Disease	Renal cell carcinoma (RCC) [MIM:144700]
Q9BYW2	SETD2_HUMAN	1453	D	N	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1920	E	V	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1171	T	A	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1804	L	S	Unclassified	Leukemia, acute myelogenous (AML) [MIM:601626]
Q9BYW2	SETD2_HUMAN	1609	L	P	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1365	G	E	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	488	Y	C	Unclassified	-
Q9BYW2	SETD2_HUMAN	1769	S	P	Disease	Renal cell carcinoma (RCC) [MIM:144700]
Q9BYW2	SETD2_HUMAN	2	K	R	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1663	T	M	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1397	D	G	Unclassified	Leukemia, acute myelogenous (AML) [MIM:601626]
Q9BYW2	SETD2_HUMAN	1821	L	P	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	19	E	G	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1493	D	N	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	2214	T	A	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	902	E	Q	Polymorphism	-
Q9BYW2	SETD2_HUMAN	768	V	L	Polymorphism	-
Q9BYW2	SETD2_HUMAN	1962	P	L	Polymorphism	-
Q9BYW2	SETD2_HUMAN	761	M	I	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYW2	SETD2_HUMAN	1868	A	D	Polymorphism	-
Q9BYW2	SETD2_HUMAN	1093	S	G	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
Q9BYX2	TBD2A_HUMAN	241	P	T	Polymorphism	-
Q9BYX2	TBD2A_HUMAN	253	L	S	Polymorphism	-
Q9BYX2	TBD2A_HUMAN	261	G	V	Polymorphism	-
Q9BYX4	IFIH1_HUMAN	337	R	G	Disease	Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846]
Q9BYX4	IFIH1_HUMAN	393	D	V	Disease	Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846]
Q9BYX4	IFIH1_HUMAN	946	A	T	Polymorphism	-
Q9BYX4	IFIH1_HUMAN	460	H	R	Polymorphism	-
Q9BYX4	IFIH1_HUMAN	779	R	C	Disease	Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846]
Q9BYX4	IFIH1_HUMAN	779	R	H	Disease	Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846]
Q9BYX4	IFIH1_HUMAN	372	L	F	Disease	Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846]
Q9BYX4	IFIH1_HUMAN	843	H	R	Polymorphism	-
Q9BYX4	IFIH1_HUMAN	452	A	T	Disease	Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846]
Q9BYX4	IFIH1_HUMAN	822	R	Q	Disease	Singleton-Merten syndrome 1 (SGMRT1) [MIM:182250]
Q9BYX4	IFIH1_HUMAN	495	G	R	Disease	Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846]
Q9BYX4	IFIH1_HUMAN	720	R	Q	Disease	Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846]
Q9BYZ2	LDH6B_HUMAN	30	P	L	Polymorphism	-
Q9BYZ2	LDH6B_HUMAN	326	I	T	Polymorphism	-
Q9BYZ2	LDH6B_HUMAN	14	V	M	Polymorphism	-
Q9BYZ2	LDH6B_HUMAN	259	P	S	Polymorphism	-
Q9BYZ6	RHBT2_HUMAN	489	R	Q	Disease	Epileptic encephalopathy, early infantile, 64 (EIEE64) [MIM:618004]
Q9BYZ6	RHBT2_HUMAN	452	A	G	Disease	Epileptic encephalopathy, early infantile, 64 (EIEE64) [MIM:618004]
Q9BYZ6	RHBT2_HUMAN	489	R	W	Disease	Epileptic encephalopathy, early infantile, 64 (EIEE64) [MIM:618004]
Q9BYZ6	RHBT2_HUMAN	461	R	H	Disease	Epileptic encephalopathy, early infantile, 64 (EIEE64) [MIM:618004]
Q9BYZ6	RHBT2_HUMAN	488	N	D	Disease	Epileptic encephalopathy, early infantile, 64 (EIEE64) [MIM:618004]
Q9BYZ6	RHBT2_HUMAN	485	R	C	Disease	Epileptic encephalopathy, early infantile, 64 (EIEE64) [MIM:618004]
Q9BYZ8	REG4_HUMAN	135	N	H	Polymorphism	-
Q9BZ11	ADA33_HUMAN	178	T	A	Polymorphism	-
Q9BZ11	ADA33_HUMAN	774	P	S	Polymorphism	-
Q9BZ11	ADA33_HUMAN	305	A	V	Unclassified	A cutaneous metastatic melanoma sample
Q9BZ11	ADA33_HUMAN	336	P	S	Polymorphism	-
Q9BZ11	ADA33_HUMAN	739	C	G	Polymorphism	-
Q9BZ11	ADA33_HUMAN	109	N	S	Polymorphism	-
Q9BZ11	ADA33_HUMAN	365	A	S	Polymorphism	-
Q9BZ11	ADA33_HUMAN	515	W	R	Polymorphism	-
Q9BZ11	ADA33_HUMAN	710	V	I	Polymorphism	-
Q9BZ11	ADA33_HUMAN	441	D	E	Polymorphism	-
Q9BZ11	ADA33_HUMAN	764	M	T	Polymorphism	-
Q9BZ11	ADA33_HUMAN	742	D	Y	Polymorphism	-
Q9BZ11	ADA33_HUMAN	612	L	H	Polymorphism	-
Q9BZ11	ADA33_HUMAN	272	T	M	Polymorphism	-
Q9BZ11	ADA33_HUMAN	316	V	I	Polymorphism	-
Q9BZ19	ANR60_HUMAN	295	R	C	Polymorphism	-
Q9BZ23	PANK2_HUMAN	232	D	G	Unclassified	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	377	F	S	Unclassified	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	497	I	T	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	404	N	I	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	563	L	P	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	447	D	N	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	286	R	C	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	234	T	A	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	570	P	L	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	327	T	I	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	357	R	Q	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	489	L	P	Unclassified	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	111	L	Q	Polymorphism	-
Q9BZ23	PANK2_HUMAN	521	G	R	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	219	G	V	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	501	I	T	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	555	G	S	Unclassified	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	278	R	L	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	398	A	T	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	528	T	M	Unclassified	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	509	A	V	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	428	C	Y	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	126	G	A	Polymorphism	-
Q9BZ23	PANK2_HUMAN	511	N	D	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	413	L	P	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	249	R	P	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	134	E	G	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	351	S	P	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	282	L	V	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	471	S	N	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	355	N	S	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	322	E	G	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	532	R	W	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	278	R	C	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	500	N	I	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	264	R	W	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ23	PANK2_HUMAN	94	R	P	Polymorphism	-
Q9BZ23	PANK2_HUMAN	322	E	D	Disease	Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]
Q9BZ29	DOCK9_HUMAN	455	A	T	Polymorphism	-
Q9BZ29	DOCK9_HUMAN	1416	K	E	Polymorphism	-
Q9BZ71	PITM3_HUMAN	80	A	T	Polymorphism	-
Q9BZ71	PITM3_HUMAN	17	P	S	Polymorphism	-
Q9BZ71	PITM3_HUMAN	626	Q	H	Disease	Cone-rod dystrophy 5 (CORD5) [MIM:600977]
Q9BZ72	PITM2_HUMAN	9	P	L	Polymorphism	-
Q9BZ72	PITM2_HUMAN	661	L	M	Polymorphism	-
Q9BZ76	CNTP3_HUMAN	628	A	S	Polymorphism	-
Q9BZ76	CNTP3_HUMAN	845	R	H	Polymorphism	-
Q9BZ95	NSD3_HUMAN	186	T	M	Polymorphism	-
Q9BZ95	NSD3_HUMAN	383	R	P	Polymorphism	-
Q9BZA7	PC11X_HUMAN	1018	R	Q	Polymorphism	-
Q9BZA7	PC11X_HUMAN	42	D	G	Unclassified	A colorectal cancer sample
Q9BZA8	PC11Y_HUMAN	1012	N	K	Polymorphism	-
Q9BZA8	PC11Y_HUMAN	917	V	F	Polymorphism	-
Q9BZA8	PC11Y_HUMAN	1320	A	T	Polymorphism	-
Q9BZB8	CPEB1_HUMAN	233	M	I	Polymorphism	-
Q9BZC1	CELF4_HUMAN	388	G	S	Polymorphism	-
Q9BZC7	ABCA2_HUMAN	583	P	H	Polymorphism	-
Q9BZC7	ABCA2_HUMAN	674	F	V	Polymorphism	-
Q9BZD2	S29A3_HUMAN	427	G	S	Disease	Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]
Q9BZD2	S29A3_HUMAN	437	G	R	Disease	Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]
Q9BZD2	S29A3_HUMAN	116	M	R	Disease	Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]
Q9BZD2	S29A3_HUMAN	363	R	W	Disease	Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]
Q9BZD2	S29A3_HUMAN	158	S	F	Polymorphism	-
Q9BZD2	S29A3_HUMAN	326	I	V	Polymorphism	-
Q9BZD2	S29A3_HUMAN	452	V	E	Polymorphism	-
Q9BZD2	S29A3_HUMAN	281	L	P	Polymorphism	-
Q9BZD2	S29A3_HUMAN	407	V	M	Polymorphism	-
Q9BZD2	S29A3_HUMAN	134	R	C	Disease	Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]
Q9BZD2	S29A3_HUMAN	449	T	R	Disease	Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]
Q9BZD2	S29A3_HUMAN	239	V	I	Polymorphism	-
Q9BZD2	S29A3_HUMAN	363	R	Q	Disease	Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]
Q9BZD2	S29A3_HUMAN	163	G	V	Polymorphism	-
Q9BZD2	S29A3_HUMAN	18	R	G	Polymorphism	-
Q9BZD2	S29A3_HUMAN	184	S	R	Disease	Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]
Q9BZD3	GCOM2_HUMAN	176	R	H	Unclassified	An acute myeloid leukemia sample
Q9BZD4	NUF2_HUMAN	239	S	R	Polymorphism	-
Q9BZD4	NUF2_HUMAN	229	S	L	Polymorphism	-
Q9BZD6	TMG4_HUMAN	176	P	Q	Polymorphism	-
Q9BZD6	TMG4_HUMAN	143	C	R	Polymorphism	-
Q9BZD6	TMG4_HUMAN	33	E	K	Polymorphism	-
Q9BZD7	TMG3_HUMAN	153	N	S	Polymorphism	-
Q9BZE0	GLIS2_HUMAN	492	T	A	Polymorphism	-
Q9BZE1	RM37_HUMAN	322	L	V	Polymorphism	-
Q9BZE1	RM37_HUMAN	366	C	S	Polymorphism	-
Q9BZE2	PUS3_HUMAN	46	A	S	Polymorphism	-
Q9BZE2	PUS3_HUMAN	3	Y	D	Polymorphism	-
Q9BZE2	PUS3_HUMAN	460	E	D	Polymorphism	-
Q9BZE4	NOG1_HUMAN	525	R	H	Polymorphism	-
Q9BZE7	EVG1_HUMAN	136	M	L	Polymorphism	-
Q9BZE9	ASPC1_HUMAN	252	L	Q	Polymorphism	-
Q9BZE9	ASPC1_HUMAN	318	V	M	Polymorphism	-
Q9BZE9	ASPC1_HUMAN	487	D	E	Polymorphism	-
Q9BZF2	OSBL7_HUMAN	156	T	I	Polymorphism	-
Q9BZF2	OSBL7_HUMAN	169	A	E	Polymorphism	-
Q9BZF2	OSBL7_HUMAN	148	M	I	Polymorphism	-
Q9BZF3	OSBL6_HUMAN	53	R	Q	Polymorphism	-
Q9BZF3	OSBL6_HUMAN	58	P	L	Polymorphism	-
Q9BZF9	UACA_HUMAN	814	I	T	Polymorphism	-
Q9BZG1	RAB34_HUMAN	197	V	L	Polymorphism	-
Q9BZG2	PPAT_HUMAN	128	A	P	Unclassified	Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
Q9BZG2	PPAT_HUMAN	238	S	L	Disease	Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
Q9BZG2	PPAT_HUMAN	111	R	C	Disease	Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
Q9BZG2	PPAT_HUMAN	76	R	C	Disease	Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
Q9BZG2	PPAT_HUMAN	133	E	K	Unclassified	Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
Q9BZG8	DPH1_HUMAN	234	L	P	Disease	Developmental delay with short stature, dysmorphic features, and sparse hair (DEDSSH) [MIM:616901]
Q9BZG8	DPH1_HUMAN	6	M	K	Disease	Developmental delay with short stature, dysmorphic features, and sparse hair (DEDSSH) [MIM:616901]
Q9BZG8	DPH1_HUMAN	51	I	M	Polymorphism	-
Q9BZG8	DPH1_HUMAN	389	S	R	Unclassified	Ovarian cancer
Q9BZG8	DPH1_HUMAN	7	A	V	Unclassified	Ovarian cancer
Q9BZG8	DPH1_HUMAN	226	K	R	Polymorphism	-
Q9BZG8	DPH1_HUMAN	34	A	D	Unclassified	Ovarian cancer
Q9BZG8	DPH1_HUMAN	335	L	V	Unclassified	Ovarian cancer
Q9BZH6	WDR11_HUMAN	978	K	Q	Polymorphism	-
Q9BZH6	WDR11_HUMAN	435	A	T	Disease	Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
Q9BZH6	WDR11_HUMAN	448	R	Q	Disease	Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
Q9BZH6	WDR11_HUMAN	537	P	L	Disease	Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
Q9BZH6	WDR11_HUMAN	395	R	W	Disease	Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
Q9BZH6	WDR11_HUMAN	690	H	Q	Disease	Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
Q9BZH6	WDR11_HUMAN	1150	F	L	Disease	Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
Q9BZI7	REN3B_HUMAN	160	Y	D	Disease	Mental retardation, X-linked, syndromic, 14 (MRXS14) [MIM:300676]
Q9BZJ0	CRNL1_HUMAN	843	V	I	Polymorphism	-
Q9BZJ0	CRNL1_HUMAN	35	G	R	Polymorphism	-
Q9BZJ0	CRNL1_HUMAN	51	F	L	Polymorphism	-
Q9BZJ0	CRNL1_HUMAN	158	T	A	Polymorphism	-
Q9BZJ0	CRNL1_HUMAN	111	Q	H	Polymorphism	-
Q9BZJ3	TRYD_HUMAN	25	V	A	Polymorphism	-
Q9BZJ3	TRYD_HUMAN	22	P	R	Polymorphism	-
Q9BZJ3	TRYD_HUMAN	83	V	M	Polymorphism	-
Q9BZJ4	S2539_HUMAN	247	F	L	Polymorphism	-
Q9BZJ6	GPR63_HUMAN	21	V	M	Polymorphism	-
Q9BZJ7	GPR62_HUMAN	151	T	P	Polymorphism	-
Q9BZJ7	GPR62_HUMAN	313	V	L	Polymorphism	-
Q9BZJ7	GPR62_HUMAN	216	H	R	Polymorphism	-
Q9BZK7	TBL1R_HUMAN	282	L	P	Disease	Mental retardation, autosomal dominant 41 (MRD41) [MIM:616944]
Q9BZK7	TBL1R_HUMAN	407	N	S	Unclassified	-
Q9BZK7	TBL1R_HUMAN	405	G	E	Unclassified	-
Q9BZK7	TBL1R_HUMAN	116	A	S	Polymorphism	-
Q9BZK7	TBL1R_HUMAN	446	Y	C	Disease	Pierpont syndrome (PRPTS) [MIM:602342]
Q9BZK7	TBL1R_HUMAN	70	G	D	Disease	Mental retardation, autosomal dominant 41 (MRD41) [MIM:616944]
Q9BZK7	TBL1R_HUMAN	245	Y	C	Disease	Mental retardation, autosomal dominant 41 (MRD41) [MIM:616944]
Q9BZL4	PP12C_HUMAN	419	R	C	Polymorphism	-
Q9BZL6	KPCD2_HUMAN	604	S	G	Polymorphism	-
Q9BZL6	KPCD2_HUMAN	835	A	V	Polymorphism	-
Q9BZL6	KPCD2_HUMAN	496	A	V	Polymorphism	-
Q9BZL6	KPCD2_HUMAN	848	G	E	Unclassified	A lung adenocarcinoma sample
Q9BZL6	KPCD2_HUMAN	773	W	R	Polymorphism	-
Q9BZL6	KPCD2_HUMAN	324	V	M	Polymorphism	-
Q9BZL6	KPCD2_HUMAN	870	G	E	Unclassified	A gastric adenocarcinoma sample
Q9BZM3	GSX2_HUMAN	107	G	S	Polymorphism	-
Q9BZM6	ULBP1_HUMAN	101	L	I	Polymorphism	-
Q9BZP6	CHIA_HUMAN	45	N	D	Polymorphism	-
Q9BZP6	CHIA_HUMAN	432	V	G	Polymorphism	-
Q9BZP6	CHIA_HUMAN	61	R	M	Polymorphism	-
Q9BZP6	CHIA_HUMAN	125	K	R	Polymorphism	-
Q9BZP6	CHIA_HUMAN	339	I	V	Polymorphism	-
Q9BZP6	CHIA_HUMAN	102	G	R	Polymorphism	-
Q9BZP6	CHIA_HUMAN	47	D	N	Polymorphism	-
Q9BZP6	CHIA_HUMAN	324	V	G	Polymorphism	-
Q9BZP6	CHIA_HUMAN	377	F	L	Polymorphism	-
Q9BZP6	CHIA_HUMAN	354	F	S	Polymorphism	-
Q9BZQ2	SHP1L_HUMAN	491	V	M	Polymorphism	-
Q9BZQ6	EDEM3_HUMAN	820	I	S	Polymorphism	-
Q9BZQ8	NIBA1_HUMAN	633	S	L	Polymorphism	-
Q9BZQ8	NIBA1_HUMAN	830	G	S	Polymorphism	-
Q9BZQ8	NIBA1_HUMAN	720	V	M	Polymorphism	-
Q9BZQ8	NIBA1_HUMAN	692	D	N	Polymorphism	-
Q9BZR6	RTN4R_HUMAN	68	R	H	Polymorphism	-
Q9BZR6	RTN4R_HUMAN	53	V	M	Polymorphism	-
Q9BZR6	RTN4R_HUMAN	227	R	C	Unclassified	Schizophrenia (SCZD) [MIM:181500]
Q9BZR6	RTN4R_HUMAN	292	R	H	Disease	Schizophrenia (SCZD) [MIM:181500]
Q9BZR6	RTN4R_HUMAN	141	G	S	Polymorphism	-
Q9BZR6	RTN4R_HUMAN	363	V	M	Polymorphism	-
Q9BZR6	RTN4R_HUMAN	227	R	H	Polymorphism	-
Q9BZR6	RTN4R_HUMAN	399	R	W	Unclassified	Schizophrenia (SCZD) [MIM:181500]
Q9BZR6	RTN4R_HUMAN	119	R	W	Disease	Schizophrenia (SCZD) [MIM:181500]
Q9BZR6	RTN4R_HUMAN	377	R	Q	Disease	Schizophrenia (SCZD) [MIM:181500]
Q9BZR6	RTN4R_HUMAN	259	D	N	Polymorphism	-
Q9BZR6	RTN4R_HUMAN	314	G	S	Polymorphism	-
Q9BZR6	RTN4R_HUMAN	329	P	L	Polymorphism	-
Q9BZR6	RTN4R_HUMAN	377	R	W	Disease	Schizophrenia (SCZD) [MIM:181500]
Q9BZR6	RTN4R_HUMAN	196	R	H	Disease	Schizophrenia (SCZD) [MIM:181500]
Q9BZR6	RTN4R_HUMAN	263	V	M	Polymorphism	-
Q9BZS1	FOXP3_HUMAN	373	F	A	Disease	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
Q9BZS1	FOXP3_HUMAN	339	P	A	Disease	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
Q9BZS1	FOXP3_HUMAN	347	R	H	Disease	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
Q9BZS1	FOXP3_HUMAN	242	L	P	Disease	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
Q9BZS1	FOXP3_HUMAN	363	I	V	Disease	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
Q9BZS1	FOXP3_HUMAN	371	F	C	Disease	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
Q9BZS1	FOXP3_HUMAN	384	A	T	Disease	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
Q9BZS1	FOXP3_HUMAN	397	R	W	Disease	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
Q9BZS1	FOXP3_HUMAN	324	F	L	Disease	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
Q9BZS1	FOXP3_HUMAN	374	F	C	Disease	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
Q9BZV1	UBXN6_HUMAN	425	P	L	Polymorphism	-
Q9BZV1	UBXN6_HUMAN	31	A	T	Polymorphism	-
Q9BZV2	S19A3_HUMAN	422	T	A	Disease	Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM:607483]
Q9BZV2	S19A3_HUMAN	23	G	V	Disease	Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM:607483]
Q9BZV2	S19A3_HUMAN	174	V	I	Polymorphism	-
Q9BZV2	S19A3_HUMAN	350	V	A	Polymorphism	-
Q9BZV3	IMPG2_HUMAN	674	T	I	Polymorphism	-
Q9BZV3	IMPG2_HUMAN	344	K	N	Polymorphism	-
Q9BZV3	IMPG2_HUMAN	1013	P	L	Polymorphism	-
Q9BZV3	IMPG2_HUMAN	124	F	L	Disease	Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152]
Q9BZV3	IMPG2_HUMAN	1077	C	F	Disease	Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152]
Q9BZW2	S13A1_HUMAN	277	R	H	Polymorphism	-
Q9BZW2	S13A1_HUMAN	240	T	M	Polymorphism	-
Q9BZW2	S13A1_HUMAN	392	I	T	Polymorphism	-
Q9BZW2	S13A1_HUMAN	42	F	L	Polymorphism	-
Q9BZW2	S13A1_HUMAN	174	N	S	Polymorphism	-
Q9BZW2	S13A1_HUMAN	332	V	A	Polymorphism	-
Q9BZW2	S13A1_HUMAN	157	Q	E	Polymorphism	-
Q9BZW2	S13A1_HUMAN	205	Y	C	Polymorphism	-
Q9BZW2	S13A1_HUMAN	44	V	I	Polymorphism	-
Q9BZW4	TM6S2_HUMAN	167	E	K	Polymorphism	-
Q9BZW5	TM6S1_HUMAN	17	I	T	Polymorphism	-
Q9BZW5	TM6S1_HUMAN	59	P	S	Polymorphism	-
Q9BZW8	CD244_HUMAN	323	S	F	Polymorphism	-
Q9BZW8	CD244_HUMAN	89	N	D	Polymorphism	-
Q9BZY9	TRI31_HUMAN	232	V	I	Polymorphism	-
Q9BZY9	TRI31_HUMAN	235	L	P	Polymorphism	-
Q9BZY9	TRI31_HUMAN	118	R	C	Polymorphism	-
Q9BZY9	TRI31_HUMAN	421	E	K	Polymorphism	-
Q9BZY9	TRI31_HUMAN	17	P	R	Polymorphism	-
Q9BZZ2	SN_HUMAN	919	H	P	Polymorphism	-
Q9BZZ2	SN_HUMAN	974	A	V	Polymorphism	-
Q9BZZ2	SN_HUMAN	141	V	L	Polymorphism	-
Q9BZZ2	SN_HUMAN	221	V	M	Polymorphism	-
Q9BZZ2	SN_HUMAN	1335	S	Y	Polymorphism	-
Q9BZZ2	SN_HUMAN	464	R	H	Polymorphism	-
Q9BZZ2	SN_HUMAN	1519	A	P	Polymorphism	-
Q9BZZ2	SN_HUMAN	239	K	R	Polymorphism	-
Q9BZZ2	SN_HUMAN	1487	R	W	Polymorphism	-
Q9BZZ5	API5_HUMAN	493	G	S	Polymorphism	-
Q9BZZ5	API5_HUMAN	300	M	V	Polymorphism	-
Q9BZZ5	API5_HUMAN	276	P	S	Polymorphism	-
Q9C000	NLRP1_HUMAN	1059	V	M	Polymorphism	-
Q9C000	NLRP1_HUMAN	1366	R	C	Polymorphism	-
Q9C000	NLRP1_HUMAN	1184	M	V	Polymorphism	-
Q9C000	NLRP1_HUMAN	155	L	H	Disease	Vitiligo-associated multiple autoimmune disease 1 (VAMAS1) [MIM:606579]
Q9C000	NLRP1_HUMAN	726	R	W	Unclassified	Autoinflammation with arthritis and dyskeratosis (AIADK) [MIM:617388]
Q9C000	NLRP1_HUMAN	404	R	Q	Polymorphism	-
Q9C000	NLRP1_HUMAN	1241	V	L	Polymorphism	-
Q9C000	NLRP1_HUMAN	1214	P	R	Unclassified	Autoinflammation with arthritis and dyskeratosis (AIADK) [MIM:617388]
Q9C000	NLRP1_HUMAN	246	T	S	Polymorphism	-
Q9C000	NLRP1_HUMAN	1069	H	Y	Polymorphism	-
Q9C000	NLRP1_HUMAN	1119	M	V	Polymorphism	-
Q9C000	NLRP1_HUMAN	77	M	T	Disease	Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225]
Q9C000	NLRP1_HUMAN	878	T	M	Polymorphism	-
Q9C000	NLRP1_HUMAN	54	A	T	Disease	Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225]
Q9C000	NLRP1_HUMAN	66	A	V	Disease	Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225]
Q9C004	SPY4_HUMAN	218	S	Y	Disease	Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
Q9C004	SPY4_HUMAN	77	T	M	Disease	Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
Q9C004	SPY4_HUMAN	82	D	N	Disease	Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
Q9C004	SPY4_HUMAN	186	C	Y	Disease	Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
Q9C004	SPY4_HUMAN	154	K	R	Disease	Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
Q9C004	SPY4_HUMAN	258	V	M	Disease	Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
Q9C004	SPY4_HUMAN	281	V	I	Disease	Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
Q9C009	FOXQ1_HUMAN	61	Q	P	Polymorphism	-
Q9C009	FOXQ1_HUMAN	60	T	P	Polymorphism	-
Q9C019	TRI15_HUMAN	324	S	N	Polymorphism	-
Q9C019	TRI15_HUMAN	84	E	Q	Polymorphism	-
Q9C019	TRI15_HUMAN	29	I	V	Polymorphism	-
Q9C019	TRI15_HUMAN	42	A	T	Polymorphism	-
Q9C019	TRI15_HUMAN	235	L	V	Polymorphism	-
Q9C026	TRIM9_HUMAN	653	L	F	Polymorphism	-
Q9C029	TRIM7_HUMAN	363	G	S	Polymorphism	-
Q9C029	TRIM7_HUMAN	258	V	A	Polymorphism	-
Q9C029	TRIM7_HUMAN	18	A	S	Polymorphism	-
Q9C029	TRIM7_HUMAN	73	P	S	Polymorphism	-
Q9C029	TRIM7_HUMAN	95	Q	E	Polymorphism	-
Q9C030	TRIM6_HUMAN	154	E	K	Polymorphism	-
Q9C035	TRIM5_HUMAN	31	G	S	Polymorphism	-
Q9C035	TRIM5_HUMAN	249	G	D	Polymorphism	-
Q9C035	TRIM5_HUMAN	419	H	Y	Polymorphism	-
Q9C035	TRIM5_HUMAN	112	V	F	Polymorphism	-
Q9C035	TRIM5_HUMAN	136	R	Q	Polymorphism	-
Q9C035	TRIM5_HUMAN	43	H	Y	Polymorphism	-
Q9C035	TRIM5_HUMAN	58	C	Y	Polymorphism	-
Q9C035	TRIM5_HUMAN	467	C	S	Polymorphism	-
Q9C035	TRIM5_HUMAN	110	G	E	Polymorphism	-
Q9C035	TRIM5_HUMAN	479	P	L	Polymorphism	-
Q9C037	TRIM4_HUMAN	367	P	S	Polymorphism	-
Q9C037	TRIM4_HUMAN	474	S	C	Polymorphism	-
Q9C040	TRIM2_HUMAN	227	E	V	Disease	Charcot-Marie-Tooth disease 2R (CMT2R) [MIM:615490]
Q9C056	NKX62_HUMAN	163	L	V	Unclassified	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (SPAX8) [MIM:617560]
Q9C056	NKX62_HUMAN	209	V	A	Polymorphism	-
Q9C075	K1C23_HUMAN	303	T	A	Polymorphism	-
Q9C075	K1C23_HUMAN	393	S	F	Polymorphism	-
Q9C086	IN80B_HUMAN	152	W	G	Polymorphism	-
Q9C091	GRB1L_HUMAN	1655	I	T	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1664	Y	C	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	605	S	R	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1536	H	R	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1502	M	T	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	273	G	V	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	751	R	C	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1775	D	N	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	241	R	Q	Polymorphism	-
Q9C091	GRB1L_HUMAN	1509	D	V	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1690	V	M	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	328	R	Q	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	192	R	L	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	497	A	G	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	716	L	F	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1066	R	P	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1884	R	H	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1615	V	I	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1793	L	R	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1576	A	V	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1558	R	S	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	926	A	V	Polymorphism	-
Q9C091	GRB1L_HUMAN	751	R	H	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1549	V	A	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	1567	L	P	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	128	R	H	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C091	GRB1L_HUMAN	761	E	Q	Disease	Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]
Q9C093	SPEF2_HUMAN	500	D	N	Polymorphism	-
Q9C093	SPEF2_HUMAN	934	A	P	Polymorphism	-
Q9C093	SPEF2_HUMAN	655	E	G	Polymorphism	-
Q9C093	SPEF2_HUMAN	1482	K	N	Polymorphism	-
Q9C093	SPEF2_HUMAN	904	A	V	Polymorphism	-
Q9C093	SPEF2_HUMAN	616	N	K	Polymorphism	-
Q9C093	SPEF2_HUMAN	74	G	S	Polymorphism	-
Q9C093	SPEF2_HUMAN	447	R	Q	Polymorphism	-
Q9C093	SPEF2_HUMAN	71	N	H	Polymorphism	-
Q9C093	SPEF2_HUMAN	366	R	K	Polymorphism	-
Q9C098	DCLK3_HUMAN	633	E	D	Polymorphism	-
Q9C098	DCLK3_HUMAN	24	R	Q	Polymorphism	-
Q9C098	DCLK3_HUMAN	554	R	C	Unclassified	A lung squamous cell carcinoma sample
Q9C098	DCLK3_HUMAN	472	S	N	Unclassified	A lung large cell carcinoma sample
Q9C098	DCLK3_HUMAN	108	P	L	Unclassified	A breast infiltrating ductal carcinoma sample
Q9C098	DCLK3_HUMAN	570	G	R	Unclassified	A renal clear cell carcinoma sample
Q9C098	DCLK3_HUMAN	422	E	K	Unclassified	A colorectal adenocarcinoma sample
Q9C098	DCLK3_HUMAN	596	V	A	Unclassified	A colorectal adenocarcinoma sample
Q9C099	LRCC1_HUMAN	69	H	Q	Polymorphism	-
Q9C099	LRCC1_HUMAN	210	T	A	Polymorphism	-
Q9C099	LRCC1_HUMAN	613	K	N	Polymorphism	-
Q9C0A0	CNTP4_HUMAN	786	Q	R	Polymorphism	-
Q9C0A0	CNTP4_HUMAN	1155	D	E	Polymorphism	-
Q9C0A0	CNTP4_HUMAN	1300	N	S	Polymorphism	-
Q9C0A0	CNTP4_HUMAN	276	L	V	Polymorphism	-
Q9C0A0	CNTP4_HUMAN	513	Q	H	Polymorphism	-
Q9C0A1	ZFHX2_HUMAN	1913	R	K	Disease	Marsili syndrome (MARSIS) [MIM:147430]
Q9C0A6	SETD5_HUMAN	175	S	G	Disease	Mental retardation, autosomal dominant 23 (MRD23) [MIM:615761]
Q9C0A6	SETD5_HUMAN	119	R	I	Polymorphism	-
Q9C0A6	SETD5_HUMAN	1308	T	I	Polymorphism	-
Q9C0A6	SETD5_HUMAN	77	R	H	Polymorphism	-
Q9C0A6	SETD5_HUMAN	1137	M	V	Polymorphism	-
Q9C0A6	SETD5_HUMAN	1071	Y	C	Unclassified	Mental retardation, autosomal dominant 23 (MRD23) [MIM:615761]
Q9C0B1	FTO_HUMAN	319	S	F	Disease	Growth retardation, developmental delay, and facial dysmorphism (GDFD) [MIM:612938]
Q9C0B1	FTO_HUMAN	316	R	Q	Disease	Growth retardation, developmental delay, and facial dysmorphism (GDFD) [MIM:612938]
Q9C0B1	FTO_HUMAN	322	R	Q	Disease	Growth retardation, developmental delay, and facial dysmorphism (GDFD) [MIM:612938]
Q9C0B1	FTO_HUMAN	405	A	V	Polymorphism	-
Q9C0B1	FTO_HUMAN	271	H	P	Unclassified	-
Q9C0B2	CFA74_HUMAN	628	G	C	Polymorphism	-
Q9C0B2	CFA74_HUMAN	50	S	I	Polymorphism	-
Q9C0B2	CFA74_HUMAN	363	I	V	Polymorphism	-
Q9C0B6	BRNP2_HUMAN	390	L	V	Polymorphism	-
Q9C0B6	BRNP2_HUMAN	71	Y	C	Polymorphism	-
Q9C0B9	ZCHC2_HUMAN	941	T	A	Polymorphism	-
Q9C0C2	TB182_HUMAN	322	T	S	Polymorphism	-
Q9C0C2	TB182_HUMAN	714	S	N	Polymorphism	-
Q9C0C6	CIPC_HUMAN	31	L	F	Polymorphism	-
Q9C0C6	CIPC_HUMAN	203	T	A	Polymorphism	-
Q9C0C9	UBE2O_HUMAN	1207	G	S	Polymorphism	-
Q9C0D0	PHAR1_HUMAN	500	L	P	Disease	Epileptic encephalopathy, early infantile, 70 (EIEE70) [MIM:618298]
Q9C0D0	PHAR1_HUMAN	479	N	I	Disease	Epileptic encephalopathy, early infantile, 70 (EIEE70) [MIM:618298]
Q9C0D0	PHAR1_HUMAN	247	I	M	Polymorphism	-
Q9C0D0	PHAR1_HUMAN	521	R	C	Disease	Epileptic encephalopathy, early infantile, 70 (EIEE70) [MIM:618298]
Q9C0D2	CE295_HUMAN	1026	E	K	Polymorphism	-
Q9C0D2	CE295_HUMAN	80	Q	K	Polymorphism	-
Q9C0D2	CE295_HUMAN	499	A	E	Polymorphism	-
Q9C0D2	CE295_HUMAN	1459	L	R	Polymorphism	-
Q9C0D2	CE295_HUMAN	208	R	Q	Polymorphism	-
Q9C0D2	CE295_HUMAN	1441	G	E	Polymorphism	-
Q9C0D2	CE295_HUMAN	1270	A	G	Polymorphism	-
Q9C0D4	Z518B_HUMAN	105	S	P	Polymorphism	-
Q9C0D4	Z518B_HUMAN	92	G	S	Polymorphism	-
Q9C0D4	Z518B_HUMAN	523	S	N	Polymorphism	-
Q9C0D5	TANC1_HUMAN	1511	G	S	Polymorphism	-
Q9C0D5	TANC1_HUMAN	1573	T	A	Polymorphism	-
Q9C0D5	TANC1_HUMAN	30	P	S	Polymorphism	-
Q9C0D5	TANC1_HUMAN	251	N	S	Polymorphism	-
Q9C0D6	FHDC1_HUMAN	639	R	C	Polymorphism	-
Q9C0D6	FHDC1_HUMAN	297	L	F	Polymorphism	-
Q9C0E2	XPO4_HUMAN	149	N	S	Polymorphism	-
Q9C0E2	XPO4_HUMAN	451	T	A	Polymorphism	-
Q9C0F0	ASXL3_HUMAN	1415	M	R	Polymorphism	-
Q9C0F0	ASXL3_HUMAN	1652	V	M	Polymorphism	-
Q9C0F0	ASXL3_HUMAN	1708	M	V	Polymorphism	-
Q9C0F0	ASXL3_HUMAN	954	N	S	Polymorphism	-
Q9C0F1	CEP44_HUMAN	147	G	S	Polymorphism	-
Q9C0F3	ZN436_HUMAN	196	C	G	Unclassified	A breast cancer sample
Q9C0G0	ZN407_HUMAN	512	G	R	Polymorphism	-
Q9C0G0	ZN407_HUMAN	1259	S	L	Polymorphism	-
Q9C0G0	ZN407_HUMAN	972	N	T	Polymorphism	-
Q9C0G0	ZN407_HUMAN	69	N	S	Polymorphism	-
Q9C0G0	ZN407_HUMAN	1913	A	T	Polymorphism	-
Q9C0G6	DYH6_HUMAN	3471	H	Q	Unclassified	-
Q9C0I3	CCSE1_HUMAN	382	G	S	Polymorphism	-
Q9C0I9	LRC27_HUMAN	195	R	C	Polymorphism	-
Q9C0J1	B3GN4_HUMAN	6	P	A	Polymorphism	-
Q9C0J1	B3GN4_HUMAN	87	L	P	Polymorphism	-
Q9C0J1	B3GN4_HUMAN	83	S	T	Polymorphism	-
Q9C0J8	WDR33_HUMAN	711	P	R	Polymorphism	-
Q9C0J8	WDR33_HUMAN	33	A	S	Polymorphism	-
Q9C0J9	BHE41_HUMAN	384	P	R	Polymorphism	-
Q9C0K0	BC11B_HUMAN	229	P	S	Polymorphism	-
Q9C0K0	BC11B_HUMAN	441	N	K	Disease	Immunodeficiency 49 (IMD49) [MIM:617237]
Q9C0K0	BC11B_HUMAN	807	N	K	Disease	Immunodeficiency 49 (IMD49) [MIM:617237]
Q9C0K0	BC11B_HUMAN	331	S	P	Unclassified	A colorectal cancer sample
Q9C0K0	BC11B_HUMAN	32	E	V	Unclassified	-
Q9C0K1	S39A8_HUMAN	33	V	M	Disease	Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721]
Q9C0K1	S39A8_HUMAN	391	A	T	Polymorphism	-
Q9C0K1	S39A8_HUMAN	38	G	R	Disease	Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721]
Q9C0K1	S39A8_HUMAN	335	S	T	Disease	Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721]
Q9C0K1	S39A8_HUMAN	204	G	C	Disease	Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721]
Q9C0K1	S39A8_HUMAN	340	I	N	Disease	Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721]
Q9C0K7	STRAB_HUMAN	386	P	L	Polymorphism	-
Q9C0K7	STRAB_HUMAN	155	G	E	Unclassified	A metastatic melanoma sample
Q9GIY3	2B1E_HUMAN	114	V	A	Polymorphism	-
Q9GIY3	2B1E_HUMAN	55	F	Y	Polymorphism	-
Q9GIY3	2B1E_HUMAN	106	T	N	Polymorphism	-
Q9GIY3	2B1E_HUMAN	74	G	R	Polymorphism	-
Q9GIY3	2B1E_HUMAN	66	F	Y	Polymorphism	-
Q9GIY3	2B1E_HUMAN	102	A	G	Polymorphism	-
Q9GIY3	2B1E_HUMAN	99	R	Q	Polymorphism	-
Q9GIY3	2B1E_HUMAN	102	A	S	Polymorphism	-
Q9GIY3	2B1E_HUMAN	40	S	V	Polymorphism	-
Q9GIY3	2B1E_HUMAN	86	A	S	Polymorphism	-
Q9GIY3	2B1E_HUMAN	103	E	L	Polymorphism	-
Q9GIY3	2B1E_HUMAN	87	A	E	Polymorphism	-
Q9GIY3	2B1E_HUMAN	76	Y	F	Polymorphism	-
Q9GIY3	2B1E_HUMAN	40	S	P	Polymorphism	-
Q9GIY3	2B1E_HUMAN	100	R	A	Polymorphism	-
Q9GIY3	2B1E_HUMAN	39	Y	Q	Polymorphism	-
Q9GIY3	2B1E_HUMAN	100	R	K	Polymorphism	-
Q9GIY3	2B1E_HUMAN	103	E	R	Polymorphism	-
Q9GIY3	2B1E_HUMAN	103	E	A	Polymorphism	-
Q9GIY3	2B1E_HUMAN	110	H	Y	Polymorphism	-
Q9GIY3	2B1E_HUMAN	89	H	Y	Polymorphism	-
Q9GIY3	2B1E_HUMAN	39	Y	L	Polymorphism	-
Q9GIY3	2B1E_HUMAN	66	F	N	Polymorphism	-
Q9GIY3	2B1E_HUMAN	61	H	Y	Polymorphism	-
Q9GIY3	2B1E_HUMAN	86	A	T	Polymorphism	-
Q9GIY3	2B1E_HUMAN	42	S	G	Polymorphism	-
Q9GIY3	2B1E_HUMAN	89	H	S	Polymorphism	-
Q9GIY3	2B1E_HUMAN	40	S	R	Polymorphism	-
Q9GIY3	2B1E_HUMAN	99	R	D	Polymorphism	-
Q9GIY3	2B1E_HUMAN	86	A	V	Polymorphism	-
Q9GIY3	2B1E_HUMAN	86	A	D	Polymorphism	-
Q9GIY3	2B1E_HUMAN	100	R	E	Polymorphism	-
Q9GIY3	2B1E_HUMAN	106	T	A	Polymorphism	-
Q9GIY3	2B1E_HUMAN	45	H	Y	Polymorphism	-
Q9GIY3	2B1E_HUMAN	115	V	G	Polymorphism	-
Q9GIY3	2B1E_HUMAN	96	L	F	Polymorphism	-
Q9GIY3	2B1E_HUMAN	59	Y	H	Polymorphism	-
Q9GIY3	2B1E_HUMAN	67	V	L	Polymorphism	-
Q9GIY3	2B1E_HUMAN	42	S	H	Polymorphism	-
Q9GIY3	2B1E_HUMAN	54	R	Q	Polymorphism	-
Q9GIY3	2B1E_HUMAN	96	L	I	Polymorphism	-
Q9GIY3	2B1E_HUMAN	80	T	R	Polymorphism	-
Q9GIY3	2B1E_HUMAN	141	Y	H	Polymorphism	-
Q9GIY3	2B1E_HUMAN	57	D	E	Polymorphism	-
Q9GIY3	2B1E_HUMAN	56	L	M	Polymorphism	-
Q9GIY3	2B1E_HUMAN	45	H	Q	Polymorphism	-
Q9GIY3	2B1E_HUMAN	41	T	K	Polymorphism	-
Q9GIY3	2B1E_HUMAN	115	V	M	Polymorphism	-
Q9GZK3	OR2B2_HUMAN	300	A	S	Polymorphism	-
Q9GZK3	OR2B2_HUMAN	183	A	P	Polymorphism	-
Q9GZK3	OR2B2_HUMAN	234	Q	R	Polymorphism	-
Q9GZK4	OR2H1_HUMAN	223	V	M	Polymorphism	-
Q9GZK4	OR2H1_HUMAN	63	D	N	Polymorphism	-
Q9GZK6	OR2J1_HUMAN	14	L	I	Polymorphism	-
Q9GZK7	O11A1_HUMAN	165	A	T	Polymorphism	-
Q9GZK7	O11A1_HUMAN	121	Y	C	Polymorphism	-
Q9GZL7	WDR12_HUMAN	72	M	V	Polymorphism	-
Q9GZL7	WDR12_HUMAN	75	I	V	Polymorphism	-
Q9GZL7	WDR12_HUMAN	89	Y	C	Polymorphism	-
Q9GZL7	WDR12_HUMAN	286	E	G	Polymorphism	-
Q9GZM3	RPB1B_HUMAN	28	K	N	Polymorphism	-
Q9GZM5	YIPF3_HUMAN	5	A	V	Polymorphism	-
Q9GZM6	OR8D2_HUMAN	122	R	H	Polymorphism	-
Q9GZM6	OR8D2_HUMAN	263	P	L	Polymorphism	-
Q9GZM7	TINAL_HUMAN	69	A	S	Polymorphism	-
Q9GZN0	GPR88_HUMAN	318	Q	H	Polymorphism	-
Q9GZN0	GPR88_HUMAN	190	V	I	Polymorphism	-
Q9GZN6	S6A16_HUMAN	108	S	R	Polymorphism	-
Q9GZN6	S6A16_HUMAN	236	E	K	Unclassified	-
Q9GZN7	ROGDI_HUMAN	59	E	K	Polymorphism	-
Q9GZP0	PDGFD_HUMAN	190	I	V	Polymorphism	-
Q9GZP0	PDGFD_HUMAN	202	D	Y	Unclassified	A colorectal cancer sample
Q9GZP1	NRSN2_HUMAN	41	L	V	Polymorphism	-
Q9GZP1	NRSN2_HUMAN	160	E	Q	Polymorphism	-
Q9GZP1	NRSN2_HUMAN	65	S	C	Polymorphism	-
Q9GZP7	VN1R1_HUMAN	241	S	F	Polymorphism	-
Q9GZP7	VN1R1_HUMAN	269	A	D	Polymorphism	-
Q9GZP7	VN1R1_HUMAN	139	I	T	Polymorphism	-
Q9GZP7	VN1R1_HUMAN	103	I	M	Polymorphism	-
Q9GZQ3	COMD5_HUMAN	6	A	T	Polymorphism	-
Q9GZQ3	COMD5_HUMAN	69	Q	H	Polymorphism	-
Q9GZQ4	NMUR2_HUMAN	315	F	L	Polymorphism	-
Q9GZQ4	NMUR2_HUMAN	298	S	T	Polymorphism	-
Q9GZQ4	NMUR2_HUMAN	388	M	V	Polymorphism	-
Q9GZQ4	NMUR2_HUMAN	395	A	T	Polymorphism	-
Q9GZQ4	NMUR2_HUMAN	383	P	L	Polymorphism	-
Q9GZQ6	NPFF1_HUMAN	145	I	L	Polymorphism	-
Q9GZR1	SENP6_HUMAN	820	A	V	Polymorphism	-
Q9GZR1	SENP6_HUMAN	121	T	M	Polymorphism	-
Q9GZR1	SENP6_HUMAN	717	R	P	Polymorphism	-
Q9GZR1	SENP6_HUMAN	637	E	K	Polymorphism	-
Q9GZR1	SENP6_HUMAN	1106	Y	C	Polymorphism	-
Q9GZR2	REXO4_HUMAN	283	T	A	Polymorphism	-
Q9GZR2	REXO4_HUMAN	141	R	K	Polymorphism	-
Q9GZR5	ELOV4_HUMAN	168	L	F	Disease	Spinocerebellar ataxia 34 (SCA34) [MIM:133190]
Q9GZR5	ELOV4_HUMAN	299	M	V	Polymorphism	-
Q9GZR5	ELOV4_HUMAN	267	I	T	Polymorphism	-
Q9GZR7	DDX24_HUMAN	316	E	K	Polymorphism	-
Q9GZS0	DNAI2_HUMAN	495	V	I	Polymorphism	-
Q9GZS0	DNAI2_HUMAN	558	A	T	Polymorphism	-
Q9GZS1	RPA49_HUMAN	192	D	H	Polymorphism	-
Q9GZS1	RPA49_HUMAN	383	R	K	Polymorphism	-
Q9GZS1	RPA49_HUMAN	356	V	M	Polymorphism	-
Q9GZS9	CHST5_HUMAN	311	A	T	Polymorphism	-
Q9GZS9	CHST5_HUMAN	318	T	M	Polymorphism	-
Q9GZT5	WN10A_HUMAN	171	R	C	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	379	R	C	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	357	T	I	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	277	W	C	Disease	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	128	R	Q	Disease	Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]
Q9GZT5	WN10A_HUMAN	217	D	N	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	228	F	I	Disease	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	266	G	S	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	131	A	T	Disease	Schopf-Schulz-Passarge syndrome (SSPS) [MIM:224750]
Q9GZT5	WN10A_HUMAN	95	E	K	Disease	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	128	R	Q	Disease	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	266	G	C	Disease	Schopf-Schulz-Passarge syndrome (SSPS) [MIM:224750]
Q9GZT5	WN10A_HUMAN	213	G	S	Unclassified	Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]
Q9GZT5	WN10A_HUMAN	228	F	I	Disease	Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]
Q9GZT5	WN10A_HUMAN	126	G	S	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	223	R	C	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	131	A	V	Disease	Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]
Q9GZT5	WN10A_HUMAN	302	P	T	Polymorphism	-
Q9GZT5	WN10A_HUMAN	145	V	M	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	306	N	K	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	356	G	C	Unclassified	Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]
Q9GZT5	WN10A_HUMAN	143	H	Y	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	360	R	C	Disease	-
Q9GZT5	WN10A_HUMAN	163	R	W	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	113	R	C	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	70	R	W	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT5	WN10A_HUMAN	213	G	S	Unclassified	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
Q9GZT6	CC90B_HUMAN	10	F	L	Polymorphism	-
Q9GZT8	NIF3L_HUMAN	324	T	I	Polymorphism	-
Q9GZT9	EGLN1_HUMAN	317	P	R	Disease	Erythrocytosis, familial, 3 (ECYT3) [MIM:609820]
Q9GZT9	EGLN1_HUMAN	371	R	H	Disease	Erythrocytosis, familial, 3 (ECYT3) [MIM:609820]
Q9GZT9	EGLN1_HUMAN	4	D	E	Polymorphism	-
Q9GZT9	EGLN1_HUMAN	127	C	S	Polymorphism	-
Q9GZU0	CF062_HUMAN	116	W	C	Polymorphism	-
Q9GZU0	CF062_HUMAN	140	R	S	Polymorphism	-
Q9GZU1	MCLN1_HUMAN	447	L	P	Disease	Mucolipidosis 4 (ML4) [MIM:252650]
Q9GZU1	MCLN1_HUMAN	403	R	C	Disease	Mucolipidosis 4 (ML4) [MIM:252650]
Q9GZU1	MCLN1_HUMAN	106	L	P	Disease	Mucolipidosis 4 (ML4) [MIM:252650]
Q9GZU1	MCLN1_HUMAN	331	V	L	Unclassified	A breast cancer sample
Q9GZU1	MCLN1_HUMAN	362	D	Y	Disease	Mucolipidosis 4 (ML4) [MIM:252650]
Q9GZU1	MCLN1_HUMAN	465	F	L	Disease	Mucolipidosis 4 (ML4) [MIM:252650]
Q9GZU1	MCLN1_HUMAN	446	V	L	Disease	Mucolipidosis 4 (ML4) [MIM:252650]
Q9GZU1	MCLN1_HUMAN	232	T	P	Disease	Mucolipidosis 4 (ML4) [MIM:252650]
Q9GZU2	PEG3_HUMAN	983	D	G	Polymorphism	-
Q9GZU2	PEG3_HUMAN	839	V	L	Polymorphism	-
Q9GZU2	PEG3_HUMAN	1456	A	V	Polymorphism	-
Q9GZU2	PEG3_HUMAN	947	N	S	Polymorphism	-
Q9GZU2	PEG3_HUMAN	594	R	H	Unclassified	A colorectal cancer sample
Q9GZU2	PEG3_HUMAN	624	E	G	Polymorphism	-
Q9GZU2	PEG3_HUMAN	235	A	T	Polymorphism	-
Q9GZU2	PEG3_HUMAN	1576	R	L	Polymorphism	-
Q9GZU2	PEG3_HUMAN	1576	R	H	Polymorphism	-
Q9GZU5	NYX_HUMAN	406	A	G	Polymorphism	-
Q9GZU5	NYX_HUMAN	213	L	Q	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	370	G	V	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	298	F	S	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	232	L	P	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	307	L	P	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	175	P	R	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	347	L	P	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	143	A	P	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	285	L	P	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	184	L	P	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	216	N	S	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	264	N	K	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	312	N	S	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	151	P	L	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	31	C	S	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5	NYX_HUMAN	187	A	K	Disease	Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU7	CTDS1_HUMAN	56	A	T	Polymorphism	-
Q9GZV1	ANKR2_HUMAN	62	A	T	Polymorphism	-
Q9GZV3	SC5A7_HUMAN	105	P	S	Disease	Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
Q9GZV3	SC5A7_HUMAN	89	I	V	Polymorphism	-
Q9GZV3	SC5A7_HUMAN	65	G	E	Disease	Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
Q9GZV3	SC5A7_HUMAN	418	F	V	Unclassified	Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
Q9GZV3	SC5A7_HUMAN	361	R	Q	Disease	Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
Q9GZV3	SC5A7_HUMAN	344	V	L	Unclassified	Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
Q9GZV3	SC5A7_HUMAN	111	Y	H	Disease	Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
Q9GZV3	SC5A7_HUMAN	291	I	T	Unclassified	Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
Q9GZV3	SC5A7_HUMAN	48	D	G	Disease	Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
Q9GZV3	SC5A7_HUMAN	175	Y	C	Unclassified	Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
Q9GZV3	SC5A7_HUMAN	446	R	G	Disease	Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
Q9GZV4	IF5A2_HUMAN	42	E	D	Polymorphism	-
Q9GZV8	PRD14_HUMAN	244	K	E	Polymorphism	-
Q9GZV9	FGF23_HUMAN	179	R	Q	Disease	Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100]
Q9GZV9	FGF23_HUMAN	176	R	Q	Disease	Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100]
Q9GZV9	FGF23_HUMAN	239	T	M	Polymorphism	-
Q9GZV9	FGF23_HUMAN	96	M	T	Disease	Tumoral calcinosis, hyperphosphatemic, familial, 2 (HFTC2) [MIM:617993]
Q9GZV9	FGF23_HUMAN	157	F	L	Disease	Tumoral calcinosis, hyperphosphatemic, familial, 2 (HFTC2) [MIM:617993]
Q9GZV9	FGF23_HUMAN	129	S	F	Disease	Tumoral calcinosis, hyperphosphatemic, familial, 2 (HFTC2) [MIM:617993]
Q9GZV9	FGF23_HUMAN	71	S	G	Disease	Tumoral calcinosis, hyperphosphatemic, familial, 2 (HFTC2) [MIM:617993]
Q9GZV9	FGF23_HUMAN	179	R	W	Disease	Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100]
Q9GZV9	FGF23_HUMAN	195	P	S	Polymorphism	-
Q9GZW5	SCND2_HUMAN	110	P	T	Polymorphism	-
Q9GZW5	SCND2_HUMAN	185	A	T	Polymorphism	-
Q9GZW8	MS4A7_HUMAN	34	E	K	Polymorphism	-
Q9GZW8	MS4A7_HUMAN	157	S	F	Polymorphism	-
Q9GZW8	MS4A7_HUMAN	112	P	H	Polymorphism	-
Q9GZX3	CHST6_HUMAN	198	V	E	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	102	C	Y	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	308	H	Y	Unclassified	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	204	P	Q	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	122	Q	P	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	70	M	L	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	72	P	S	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	177	R	H	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	200	L	R	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	174	K	R	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	221	D	Y	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	97	R	P	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	76	V	M	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	107	F	S	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	166	R	P	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	128	A	V	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	203	D	E	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	93	R	H	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	22	L	R	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	118	S	F	Unclassified	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	102	C	G	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	152	L	P	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	131	S	P	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	268	Y	C	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	66	V	L	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	206	A	T	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	162	R	G	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	121	F	L	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	15	L	P	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	205	R	L	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	98	S	W	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	59	L	P	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	358	Y	D	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	276	L	P	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	52	G	D	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	68	Y	H	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	110	Y	C	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	369	N	D	Polymorphism	-
Q9GZX3	CHST6_HUMAN	186	P	R	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	51	S	L	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	61	N	T	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	211	R	W	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	274	E	K	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	42	H	Y	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	104	M	V	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	358	Y	H	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	206	A	V	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	53	S	L	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	202	R	S	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	211	R	Q	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	249	H	P	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	205	R	Q	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	50	R	C	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	31	P	S	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	205	R	W	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	210	S	F	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	217	A	T	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	127	R	C	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	221	D	E	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX3	CHST6_HUMAN	177	R	G	Disease	Macular dystrophy, corneal (MCD) [MIM:217800]
Q9GZX5	ZN350_HUMAN	501	R	S	Polymorphism	-
Q9GZX5	ZN350_HUMAN	69	I	T	Polymorphism	-
Q9GZX5	ZN350_HUMAN	66	L	P	Polymorphism	-
Q9GZX5	ZN350_HUMAN	524	V	I	Polymorphism	-
Q9GZX5	ZN350_HUMAN	406	E	K	Polymorphism	-
Q9GZX5	ZN350_HUMAN	472	S	P	Polymorphism	-
Q9GZX5	ZN350_HUMAN	132	R	C	Polymorphism	-
Q9GZX5	ZN350_HUMAN	37	M	I	Polymorphism	-
Q9GZX6	IL22_HUMAN	158	S	G	Polymorphism	-
Q9GZX7	AICDA_HUMAN	56	H	Y	Unclassified	Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7	AICDA_HUMAN	80	W	R	Disease	Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7	AICDA_HUMAN	106	L	P	Disease	Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7	AICDA_HUMAN	24	R	W	Disease	Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7	AICDA_HUMAN	151	F	S	Disease	Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7	AICDA_HUMAN	25	R	C	Polymorphism	-
Q9GZX7	AICDA_HUMAN	130	H	P	Disease	Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7	AICDA_HUMAN	174	R	S	Unclassified	Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7	AICDA_HUMAN	31	Y	H	Disease	Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7	AICDA_HUMAN	139	M	V	Disease	Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7	AICDA_HUMAN	15	F	L	Disease	Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7	AICDA_HUMAN	87	C	R	Unclassified	Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZY1	PBOV1_HUMAN	73	I	T	Polymorphism	-
Q9GZY8	MFF_HUMAN	7	S	C	Polymorphism	-
Q9GZY8	MFF_HUMAN	7	S	I	Polymorphism	-
Q9GZY8	MFF_HUMAN	29	E	K	Unclassified	A colorectal cancer sample
Q9GZZ0	HXD1_HUMAN	296	A	T	Polymorphism	-
Q9GZZ6	ACH10_HUMAN	355	E	A	Polymorphism	-
Q9GZZ9	UBA5_HUMAN	260	V	M	Disease	Epileptic encephalopathy, early infantile, 44 (EIEE44) [MIM:617132]
Q9GZZ9	UBA5_HUMAN	389	D	Y	Disease	Epileptic encephalopathy, early infantile, 44 (EIEE44) [MIM:617132]
Q9GZZ9	UBA5_HUMAN	310	K	E	Disease	Spinocerebellar ataxia, autosomal recessive, 24 (SCAR24) [MIM:617133]
Q9GZZ9	UBA5_HUMAN	57	M	V	Disease	Epileptic encephalopathy, early infantile, 44 (EIEE44) [MIM:617132]
Q9GZZ9	UBA5_HUMAN	55	R	H	Disease	Epileptic encephalopathy, early infantile, 44 (EIEE44) [MIM:617132]
Q9GZZ9	UBA5_HUMAN	371	A	T	Disease	Epileptic encephalopathy, early infantile, 44 (EIEE44) [MIM:617132]
Q9GZZ9	UBA5_HUMAN	168	G	E	Disease	Epileptic encephalopathy, early infantile, 44 (EIEE44) [MIM:617132]
Q9H000	MKRN2_HUMAN	388	R	Q	Polymorphism	-
Q9H008	LHPP_HUMAN	94	Q	R	Polymorphism	-
Q9H009	NACA2_HUMAN	64	V	I	Polymorphism	-
Q9H013	ADA19_HUMAN	4	G	S	Polymorphism	-
Q9H013	ADA19_HUMAN	609	H	Q	Unclassified	A pancreatic ductal adenocarcinoma sample
Q9H013	ADA19_HUMAN	298	A	T	Unclassified	A colorectal cancer sample
Q9H013	ADA19_HUMAN	133	R	Q	Unclassified	A colorectal cancer sample
Q9H015	S22A4_HUMAN	503	L	F	Polymorphism	-
Q9H015	S22A4_HUMAN	462	G	E	Polymorphism	-
Q9H015	S22A4_HUMAN	306	I	T	Polymorphism	-
Q9H019	MFR1L_HUMAN	58	P	S	Polymorphism	-
Q9H040	SPRTN_HUMAN	296	P	L	Polymorphism	-
Q9H040	SPRTN_HUMAN	117	Y	C	Disease	Ruijs-Aalfs syndrome (RJALS) [MIM:616200]
Q9H061	T126A_HUMAN	64	R	H	Polymorphism	-
Q9H063	MAF1_HUMAN	236	G	R	Polymorphism	-
Q9H069	DRC3_HUMAN	159	R	Q	Polymorphism	-
Q9H069	DRC3_HUMAN	364	A	V	Polymorphism	-
Q9H069	DRC3_HUMAN	191	R	W	Polymorphism	-
Q9H078	CLPB_HUMAN	268	T	M	Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [MIM:616271]
Q9H078	CLPB_HUMAN	682	I	N	Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [MIM:616271]
Q9H078	CLPB_HUMAN	591	A	V	Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [MIM:616271]
Q9H078	CLPB_HUMAN	501	E	K	Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [MIM:616271]
Q9H078	CLPB_HUMAN	617	Y	C	Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [MIM:616271]
Q9H078	CLPB_HUMAN	295	R	T	Polymorphism	-
Q9H078	CLPB_HUMAN	411	M	I	Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [MIM:616271]
Q9H078	CLPB_HUMAN	272	Y	C	Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [MIM:616271]
Q9H078	CLPB_HUMAN	646	G	V	Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [MIM:616271]
Q9H078	CLPB_HUMAN	486	C	R	Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [MIM:616271]
Q9H078	CLPB_HUMAN	408	R	G	Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [MIM:616271]
Q9H078	CLPB_HUMAN	567	Y	C	Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [MIM:616271]
Q9H081	MIS12_HUMAN	21	M	V	Polymorphism	-
Q9H082	RB33B_HUMAN	148	N	K	Disease	Smith-McCort dysplasia 2 (SMC2) [MIM:615222]
Q9H082	RB33B_HUMAN	46	K	Q	Disease	Smith-McCort dysplasia 2 (SMC2) [MIM:615222]
Q9H089	LSG1_HUMAN	92	L	P	Polymorphism	-
Q9H089	LSG1_HUMAN	267	K	E	Polymorphism	-
Q9H091	ZMY15_HUMAN	401	R	H	Polymorphism	-
Q9H093	NUAK2_HUMAN	503	K	R	Unclassified	An ovarian Endometrioid carcinoma sample
Q9H093	NUAK2_HUMAN	516	A	V	Polymorphism	-
Q9H093	NUAK2_HUMAN	341	R	L	Polymorphism	-
Q9H093	NUAK2_HUMAN	541	G	E	Unclassified	A breast pleomorphic lobular carcinoma sample
Q9H093	NUAK2_HUMAN	309	T	S	Polymorphism	-
Q9H094	NBPF3_HUMAN	444	D	E	Polymorphism	-
Q9H094	NBPF3_HUMAN	114	Y	C	Polymorphism	-
Q9H094	NBPF3_HUMAN	459	L	V	Polymorphism	-
Q9H094	NBPF3_HUMAN	198	R	Q	Polymorphism	-
Q9H095	DRC9_HUMAN	112	A	D	Polymorphism	-
Q9H0A0	NAT10_HUMAN	983	A	T	Polymorphism	-
Q9H0A0	NAT10_HUMAN	461	Y	H	Polymorphism	-
Q9H0A6	RNF32_HUMAN	288	R	Q	Polymorphism	-
Q9H0A6	RNF32_HUMAN	291	H	Q	Polymorphism	-
Q9H0A6	RNF32_HUMAN	307	R	C	Polymorphism	-
Q9H0A9	SPC1L_HUMAN	113	P	L	Polymorphism	-
Q9H0A9	SPC1L_HUMAN	298	S	N	Polymorphism	-
Q9H0B3	IQCN_HUMAN	823	P	R	Polymorphism	-
Q9H0B3	IQCN_HUMAN	524	T	A	Polymorphism	-
Q9H0B3	IQCN_HUMAN	614	A	V	Polymorphism	-
Q9H0B3	IQCN_HUMAN	197	C	R	Polymorphism	-
Q9H0B3	IQCN_HUMAN	50	A	V	Polymorphism	-
Q9H0B3	IQCN_HUMAN	285	S	T	Polymorphism	-
Q9H0B3	IQCN_HUMAN	44	L	P	Polymorphism	-
Q9H0B3	IQCN_HUMAN	610	T	P	Polymorphism	-
Q9H0B3	IQCN_HUMAN	648	Y	F	Polymorphism	-
Q9H0B3	IQCN_HUMAN	235	L	V	Polymorphism	-
Q9H0B3	IQCN_HUMAN	835	P	L	Polymorphism	-
Q9H0B3	IQCN_HUMAN	359	M	T	Polymorphism	-
Q9H0B3	IQCN_HUMAN	908	P	H	Polymorphism	-
Q9H0B6	KLC2_HUMAN	517	P	S	Polymorphism	-
Q9H0B8	CRLD2_HUMAN	105	S	G	Polymorphism	-
Q9H0B8	CRLD2_HUMAN	322	T	S	Polymorphism	-
Q9H0B8	CRLD2_HUMAN	137	D	G	Polymorphism	-
Q9H0C1	ZMY12_HUMAN	316	F	L	Polymorphism	-
Q9H0C2	ADT4_HUMAN	303	K	E	Polymorphism	-
Q9H0C3	TM117_HUMAN	90	R	H	Polymorphism	-
Q9H0C8	ILKAP_HUMAN	66	I	M	Polymorphism	-
Q9H0D2	ZN541_HUMAN	712	S	L	Unclassified	A breast cancer sample
Q9H0D2	ZN541_HUMAN	791	K	E	Polymorphism	-
Q9H0D2	ZN541_HUMAN	795	T	S	Polymorphism	-
Q9H0D2	ZN541_HUMAN	486	P	S	Polymorphism	-
Q9H0D6	XRN2_HUMAN	743	R	M	Polymorphism	-
Q9H0D6	XRN2_HUMAN	925	R	C	Polymorphism	-
Q9H0E2	TOLIP_HUMAN	161	D	N	Polymorphism	-
Q9H0E2	TOLIP_HUMAN	222	A	S	Polymorphism	-
Q9H0E7	UBP44_HUMAN	348	R	G	Polymorphism	-
Q9H0E7	UBP44_HUMAN	91	T	A	Polymorphism	-
Q9H0E7	UBP44_HUMAN	316	E	Q	Polymorphism	-
Q9H0E9	BRD8_HUMAN	1198	Q	R	Polymorphism	-
Q9H0E9	BRD8_HUMAN	896	L	P	Polymorphism	-
Q9H0E9	BRD8_HUMAN	490	T	M	Polymorphism	-
Q9H0F5	RNF38_HUMAN	206	A	T	Polymorphism	-
Q9H0F6	SHRPN_HUMAN	311	P	R	Polymorphism	-
Q9H0F6	SHRPN_HUMAN	294	P	S	Polymorphism	-
Q9H0F6	SHRPN_HUMAN	282	S	T	Polymorphism	-
Q9H0F7	ARL6_HUMAN	31	T	R	Disease	Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]
Q9H0F7	ARL6_HUMAN	31	T	M	Disease	Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]
Q9H0F7	ARL6_HUMAN	89	A	V	Disease	Retinitis pigmentosa 55 (RP55) [MIM:613575]
Q9H0F7	ARL6_HUMAN	169	G	A	Disease	Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]
Q9H0F7	ARL6_HUMAN	170	L	W	Disease	Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]
Q9H0F7	ARL6_HUMAN	94	I	T	Disease	Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]
Q9H0G5	NSRP1_HUMAN	86	K	T	Polymorphism	-
Q9H0H0	INT2_HUMAN	768	N	H	Polymorphism	-
Q9H0H3	KLH25_HUMAN	257	M	L	Polymorphism	-
Q9H0H3	KLH25_HUMAN	250	V	I	Polymorphism	-
Q9H0I3	CC113_HUMAN	4	D	E	Polymorphism	-
Q9H0I3	CC113_HUMAN	6	S	T	Polymorphism	-
Q9H0I9	TKTL2_HUMAN	442	R	Q	Polymorphism	-
Q9H0I9	TKTL2_HUMAN	590	Q	H	Polymorphism	-
Q9H0J4	QRIC2_HUMAN	630	I	V	Polymorphism	-
Q9H0J4	QRIC2_HUMAN	630	I	T	Polymorphism	-
Q9H0J4	QRIC2_HUMAN	681	V	D	Polymorphism	-
Q9H0J4	QRIC2_HUMAN	1036	E	Q	Polymorphism	-
Q9H0J4	QRIC2_HUMAN	974	H	R	Polymorphism	-
Q9H0J4	QRIC2_HUMAN	202	L	S	Polymorphism	-
Q9H0J4	QRIC2_HUMAN	906	H	Y	Polymorphism	-
Q9H0J9	PAR12_HUMAN	463	V	M	Polymorphism	-
Q9H0J9	PAR12_HUMAN	293	V	I	Polymorphism	-
Q9H0J9	PAR12_HUMAN	620	A	V	Polymorphism	-
Q9H0K1	SIK2_HUMAN	829	P	S	Polymorphism	-
Q9H0K1	SIK2_HUMAN	825	P	L	Polymorphism	-
Q9H0K1	SIK2_HUMAN	828	P	L	Polymorphism	-
Q9H0K1	SIK2_HUMAN	458	T	I	Polymorphism	-
Q9H0K1	SIK2_HUMAN	809	R	Q	Polymorphism	-
Q9H0K4	RSH6A_HUMAN	50	A	V	Polymorphism	-
Q9H0K6	PUS7L_HUMAN	343	I	V	Polymorphism	-
Q9H0K6	PUS7L_HUMAN	264	K	E	Polymorphism	-
Q9H0K6	PUS7L_HUMAN	92	I	M	Polymorphism	-
Q9H0M4	ZCPW1_HUMAN	153	T	A	Polymorphism	-
Q9H0M4	ZCPW1_HUMAN	365	E	K	Polymorphism	-
Q9H0M5	ZN700_HUMAN	321	L	V	Polymorphism	-
Q9H0M5	ZN700_HUMAN	269	E	G	Polymorphism	-
Q9H0N0	RAB6C_HUMAN	159	A	T	Polymorphism	-
Q9H0P0	5NT3A_HUMAN	297	I	T	Disease	P5N deficiency (P5ND) [MIM:266120]
Q9H0P0	5NT3A_HUMAN	229	N	S	Disease	P5N deficiency (P5ND) [MIM:266120]
Q9H0P0	5NT3A_HUMAN	181	L	P	Disease	P5N deficiency (P5ND) [MIM:266120]
Q9H0P0	5NT3A_HUMAN	137	D	V	Disease	P5N deficiency (P5ND) [MIM:266120]
Q9H0P0	5NT3A_HUMAN	113	C	R	Disease	P5N deficiency (P5ND) [MIM:266120]
Q9H0P0	5NT3A_HUMAN	280	G	R	Disease	P5N deficiency (P5ND) [MIM:266120]
Q9H0P0	5NT3A_HUMAN	207	G	R	Disease	P5N deficiency (P5ND) [MIM:266120]
Q9H0P0	5NT3A_HUMAN	95	R	G	Disease	P5N deficiency (P5ND) [MIM:266120]
Q9H0R1	AP5M1_HUMAN	379	E	D	Polymorphism	-
Q9H0R1	AP5M1_HUMAN	226	G	R	Polymorphism	-
Q9H0R4	HDHD2_HUMAN	85	R	Q	Polymorphism	-
Q9H0R5	GBP3_HUMAN	225	R	W	Polymorphism	-
Q9H0R5	GBP3_HUMAN	491	C	R	Polymorphism	-
Q9H0R5	GBP3_HUMAN	347	T	S	Polymorphism	-
Q9H0R5	GBP3_HUMAN	221	R	Q	Polymorphism	-
Q9H0R5	GBP3_HUMAN	558	V	A	Polymorphism	-
Q9H0R5	GBP3_HUMAN	469	V	M	Polymorphism	-
Q9H0R6	GATA_HUMAN	117	G	E	Disease	-
Q9H0R6	GATA_HUMAN	133	G	V	Disease	-
Q9H0R6	GATA_HUMAN	11	A	V	Polymorphism	-
Q9H0R6	GATA_HUMAN	263	N	S	Polymorphism	-
Q9H0T7	RAB17_HUMAN	184	S	G	Polymorphism	-
Q9H0T7	RAB17_HUMAN	191	L	P	Polymorphism	-
Q9H0T7	RAB17_HUMAN	19	V	A	Polymorphism	-
Q9H0U3	MAGT1_HUMAN	311	V	G	Unclassified	-
Q9H0U6	RM18_HUMAN	6	R	Q	Polymorphism	-
Q9H0U9	TSYL1_HUMAN	74	A	P	Polymorphism	-
Q9H0U9	TSYL1_HUMAN	181	A	T	Polymorphism	-
Q9H0U9	TSYL1_HUMAN	62	P	S	Polymorphism	-
Q9H0V9	LMA2L_HUMAN	53	R	Q	Disease	Mental retardation, autosomal recessive 52 (MRT52) [MIM:616887]
Q9H0W5	CCDC8_HUMAN	296	G	R	Polymorphism	-
Q9H0W5	CCDC8_HUMAN	383	H	Y	Polymorphism	-
Q9H0W5	CCDC8_HUMAN	507	K	N	Polymorphism	-
Q9H0W7	THAP2_HUMAN	170	T	M	Polymorphism	-
Q9H0X9	OSBL5_HUMAN	774	A	T	Polymorphism	-
Q9H0X9	OSBL5_HUMAN	90	T	I	Polymorphism	-
Q9H0Y0	ATG10_HUMAN	212	T	M	Polymorphism	-
Q9H0Y0	ATG10_HUMAN	220	P	H	Polymorphism	-
Q9H0Y0	ATG10_HUMAN	62	S	P	Polymorphism	-
Q9H0Z9	RBM38_HUMAN	226	V	L	Polymorphism	-
Q9H0Z9	RBM38_HUMAN	178	A	V	Polymorphism	-
Q9H0Z9	RBM38_HUMAN	200	A	D	Polymorphism	-
Q9H0Z9	RBM38_HUMAN	212	P	H	Polymorphism	-
Q9H106	SIRPD_HUMAN	55	N	D	Polymorphism	-
Q9H114	CSTL1_HUMAN	96	T	M	Polymorphism	-
Q9H114	CSTL1_HUMAN	66	R	K	Polymorphism	-
Q9H114	CSTL1_HUMAN	59	T	A	Polymorphism	-
Q9H114	CSTL1_HUMAN	88	W	R	Polymorphism	-
Q9H114	CSTL1_HUMAN	62	Y	F	Polymorphism	-
Q9H115	SNAB_HUMAN	61	A	T	Polymorphism	-
Q9H116	GZF1_HUMAN	318	K	N	Polymorphism	-
Q9H116	GZF1_HUMAN	275	Q	P	Polymorphism	-
Q9H116	GZF1_HUMAN	275	Q	L	Polymorphism	-
Q9H116	GZF1_HUMAN	275	Q	R	Polymorphism	-
Q9H116	GZF1_HUMAN	190	N	S	Polymorphism	-
Q9H116	GZF1_HUMAN	97	A	V	Unclassified	-
Q9H116	GZF1_HUMAN	667	D	N	Polymorphism	-
Q9H147	TDIF1_HUMAN	183	A	T	Polymorphism	-
Q9H156	SLIK2_HUMAN	549	S	F	Unclassified	-
Q9H156	SLIK2_HUMAN	601	S	P	Polymorphism	-
Q9H156	SLIK2_HUMAN	89	V	M	Unclassified	-
Q9H158	PCDC1_HUMAN	498	L	V	Polymorphism	-
Q9H161	ALX4_HUMAN	218	R	Q	Disease	Parietal foramina 2 (PFM2) [MIM:609597]
Q9H161	ALX4_HUMAN	306	P	L	Polymorphism	-
Q9H161	ALX4_HUMAN	257	R	T	Polymorphism	-
Q9H161	ALX4_HUMAN	211	K	E	Disease	Craniosynostosis 5 (CRS5) [MIM:615529]
Q9H161	ALX4_HUMAN	102	P	S	Polymorphism	-
Q9H161	ALX4_HUMAN	7	V	F	Disease	Craniosynostosis 5 (CRS5) [MIM:615529]
Q9H161	ALX4_HUMAN	272	R	P	Disease	Parietal foramina 2 (PFM2) [MIM:609597]
Q9H161	ALX4_HUMAN	35	R	T	Polymorphism	-
Q9H165	BC11A_HUMAN	142	S	F	Unclassified	A breast cancer sample
Q9H165	BC11A_HUMAN	66	H	Q	Disease	Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101]
Q9H165	BC11A_HUMAN	47	T	P	Disease	Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101]
Q9H165	BC11A_HUMAN	48	C	F	Disease	Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101]
Q9H171	ZBP1_HUMAN	17	R	I	Polymorphism	-
Q9H171	ZBP1_HUMAN	166	R	H	Polymorphism	-
Q9H171	ZBP1_HUMAN	88	E	K	Polymorphism	-
Q9H171	ZBP1_HUMAN	70	G	R	Polymorphism	-
Q9H171	ZBP1_HUMAN	154	D	H	Polymorphism	-
Q9H171	ZBP1_HUMAN	332	A	V	Polymorphism	-
Q9H171	ZBP1_HUMAN	53	K	R	Polymorphism	-
Q9H171	ZBP1_HUMAN	258	Q	R	Polymorphism	-
Q9H172	ABCG4_HUMAN	352	P	L	Polymorphism	-
Q9H173	SIL1_HUMAN	80	Q	R	Polymorphism	-
Q9H175	CSRN2_HUMAN	436	T	M	Polymorphism	-
Q9H190	SDCB2_HUMAN	191	R	Q	Unclassified	A colorectal cancer sample
Q9H190	SDCB2_HUMAN	182	V	M	Polymorphism	-
Q9H190	SDCB2_HUMAN	223	R	C	Polymorphism	-
Q9H190	SDCB2_HUMAN	242	G	R	Polymorphism	-
Q9H195	MUC3B_HUMAN	1034	A	V	Polymorphism	-
Q9H195	MUC3B_HUMAN	1213	H	Y	Polymorphism	-
Q9H1B5	XYLT2_HUMAN	115	P	L	Polymorphism	-
Q9H1B5	XYLT2_HUMAN	60	G	R	Polymorphism	-
Q9H1B5	XYLT2_HUMAN	801	T	R	Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]
Q9H1B5	XYLT2_HUMAN	418	P	L	Polymorphism	-
Q9H1B5	XYLT2_HUMAN	305	R	T	Polymorphism	-
Q9H1B5	XYLT2_HUMAN	56	D	N	Polymorphism	-
Q9H1B7	I2BPL_HUMAN	418	K	N	Disease	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) [MIM:618088]
Q9H1B7	I2BPL_HUMAN	372	P	R	Unclassified	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) [MIM:618088]
Q9H1B7	I2BPL_HUMAN	195	G	V	Unclassified	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) [MIM:618088]
Q9H1C3	GL8D2_HUMAN	37	A	T	Polymorphism	-
Q9H1C4	UN93B_HUMAN	436	Y	C	Polymorphism	-
Q9H1C7	CYTM1_HUMAN	90	C	S	Polymorphism	-
Q9H1D0	TRPV6_HUMAN	212	C	Y	Disease	Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188]
Q9H1D0	TRPV6_HUMAN	451	G	E	Disease	Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188]
Q9H1D0	TRPV6_HUMAN	399	R	Q	Polymorphism	-
Q9H1D0	TRPV6_HUMAN	197	C	R	Polymorphism	-
Q9H1D0	TRPV6_HUMAN	223	I	T	Disease	Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188]
Q9H1D0	TRPV6_HUMAN	418	M	V	Polymorphism	-
Q9H1D0	TRPV6_HUMAN	428	G	R	Disease	Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188]
Q9H1D0	TRPV6_HUMAN	483	R	W	Disease	Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188]
Q9H1D0	TRPV6_HUMAN	18	A	S	Polymorphism	-
Q9H1D0	TRPV6_HUMAN	721	M	T	Polymorphism	-
Q9H1D0	TRPV6_HUMAN	425	R	Q	Disease	Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188]
Q9H1E1	RNAS7_HUMAN	103	A	P	Polymorphism	-
Q9H1E1	RNAS7_HUMAN	116	H	Y	Polymorphism	-
Q9H1E3	NUCKS_HUMAN	137	L	P	Polymorphism	-
Q9H1E3	NUCKS_HUMAN	119	E	G	Polymorphism	-
Q9H1E5	TMX4_HUMAN	303	G	R	Polymorphism	-
Q9H1E5	TMX4_HUMAN	215	Y	C	Polymorphism	-
Q9H1H1	GTSFL_HUMAN	56	L	V	Polymorphism	-
Q9H1H9	KI13A_HUMAN	1600	F	S	Polymorphism	-
Q9H1H9	KI13A_HUMAN	1415	M	V	Polymorphism	-
Q9H1I8	ASCC2_HUMAN	423	P	S	Polymorphism	-
Q9H1I8	ASCC2_HUMAN	407	D	H	Polymorphism	-
Q9H1I8	ASCC2_HUMAN	509	R	Q	Polymorphism	-
Q9H1I8	ASCC2_HUMAN	639	R	L	Polymorphism	-
Q9H1I8	ASCC2_HUMAN	123	V	I	Polymorphism	-
Q9H1I8	ASCC2_HUMAN	96	R	C	Polymorphism	-
Q9H1I8	ASCC2_HUMAN	546	D	G	Polymorphism	-
Q9H1I8	ASCC2_HUMAN	588	E	K	Polymorphism	-
Q9H1J1	REN3A_HUMAN	64	R	K	Polymorphism	-
Q9H1K0	RBNS5_HUMAN	591	L	P	Polymorphism	-
Q9H1K0	RBNS5_HUMAN	641	T	A	Polymorphism	-
Q9H1K0	RBNS5_HUMAN	722	M	I	Polymorphism	-
Q9H1K0	RBNS5_HUMAN	425	G	R	Unclassified	-
Q9H1K1	ISCU_HUMAN	12	A	V	Polymorphism	-
Q9H1L0	MI1HG_HUMAN	27	V	A	Polymorphism	-
Q9H1M0	N62CL_HUMAN	177	I	T	Polymorphism	-
Q9H1M0	N62CL_HUMAN	54	F	L	Polymorphism	-
Q9H1M3	DB129_HUMAN	149	T	S	Polymorphism	-
Q9H1M4	DB127_HUMAN	71	R	S	Polymorphism	-
Q9H1M4	DB127_HUMAN	31	G	R	Polymorphism	-
Q9H1P6	CT085_HUMAN	34	R	Q	Polymorphism	-
Q9H1P6	CT085_HUMAN	99	I	V	Polymorphism	-
Q9H1P6	CT085_HUMAN	26	R	H	Polymorphism	-
Q9H1Q7	PED1A_HUMAN	22	Q	H	Polymorphism	-
Q9H1R3	MYLK2_HUMAN	95	A	E	Disease	Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]
Q9H1R3	MYLK2_HUMAN	87	A	V	Disease	Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]
Q9H1R3	MYLK2_HUMAN	324	K	N	Polymorphism	-
Q9H1R3	MYLK2_HUMAN	142	G	V	Polymorphism	-
Q9H1R3	MYLK2_HUMAN	144	P	A	Polymorphism	-
Q9H1R3	MYLK2_HUMAN	117	A	V	Unclassified	A lung neuroendocrine carcinoma sample
Q9H1U9	S2551_HUMAN	205	T	M	Unclassified	A breast cancer sample
Q9H1V8	S6A17_HUMAN	633	P	R	Disease	Mental retardation, autosomal recessive 48 (MRT48) [MIM:616269]
Q9H1V8	S6A17_HUMAN	57	A	T	Polymorphism	-
Q9H1V8	S6A17_HUMAN	162	G	R	Disease	Mental retardation, autosomal recessive 48 (MRT48) [MIM:616269]
Q9H1X1	RSPH9_HUMAN	261	V	I	Polymorphism	-
Q9H1Y0	ATG5_HUMAN	58	K	M	Unclassified	A colorectal cancer sample
Q9H1Y0	ATG5_HUMAN	122	E	D	Disease	Spinocerebellar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584]
Q9H1Y3	OPN3_HUMAN	183	V	I	Polymorphism	-
Q9H1Y3	OPN3_HUMAN	167	A	V	Polymorphism	-
Q9H1Z4	WDR13_HUMAN	325	H	R	Polymorphism	-
Q9H1Z8	AUGN_HUMAN	52	A	T	Polymorphism	-
Q9H1Z9	TSN10_HUMAN	218	Y	H	Polymorphism	-
Q9H1Z9	TSN10_HUMAN	187	R	H	Polymorphism	-
Q9H201	EPN3_HUMAN	544	P	T	Polymorphism	-
Q9H205	O2AG1_HUMAN	299	R	G	Polymorphism	-
Q9H205	O2AG1_HUMAN	187	V	L	Polymorphism	-
Q9H205	O2AG1_HUMAN	299	R	W	Polymorphism	-
Q9H207	O10A5_HUMAN	41	K	M	Polymorphism	-
Q9H208	O10A2_HUMAN	258	K	T	Polymorphism	-
Q9H208	O10A2_HUMAN	134	A	T	Polymorphism	-
Q9H208	O10A2_HUMAN	207	H	R	Polymorphism	-
Q9H208	O10A2_HUMAN	240	I	T	Polymorphism	-
Q9H208	O10A2_HUMAN	43	H	R	Polymorphism	-
Q9H209	O10A4_HUMAN	206	L	P	Polymorphism	-
Q9H209	O10A4_HUMAN	221	R	H	Polymorphism	-
Q9H209	O10A4_HUMAN	262	R	Q	Polymorphism	-
Q9H209	O10A4_HUMAN	246	L	F	Polymorphism	-
Q9H210	OR2D2_HUMAN	163	I	M	Polymorphism	-
Q9H210	OR2D2_HUMAN	148	S	P	Polymorphism	-
Q9H210	OR2D2_HUMAN	84	H	Y	Polymorphism	-
Q9H210	OR2D2_HUMAN	220	R	G	Polymorphism	-
Q9H210	OR2D2_HUMAN	202	M	T	Polymorphism	-
Q9H210	OR2D2_HUMAN	163	I	T	Polymorphism	-
Q9H211	CDT1_HUMAN	234	C	R	Polymorphism	-
Q9H211	CDT1_HUMAN	468	E	K	Disease	Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
Q9H211	CDT1_HUMAN	172	R	C	Polymorphism	-
Q9H211	CDT1_HUMAN	66	A	T	Disease	Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
Q9H211	CDT1_HUMAN	262	T	A	Polymorphism	-
Q9H211	CDT1_HUMAN	462	R	Q	Disease	Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
Q9H211	CDT1_HUMAN	456	E	A	Polymorphism	-
Q9H211	CDT1_HUMAN	537	A	V	Polymorphism	-
Q9H211	CDT1_HUMAN	453	R	W	Disease	Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
Q9H211	CDT1_HUMAN	117	Q	H	Disease	Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
Q9H211	CDT1_HUMAN	135	A	V	Polymorphism	-
Q9H221	ABCG8_HUMAN	575	G	R	Polymorphism	-
Q9H221	ABCG8_HUMAN	632	V	A	Polymorphism	-
Q9H221	ABCG8_HUMAN	231	P	T	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H221	ABCG8_HUMAN	19	D	H	Polymorphism	-
Q9H221	ABCG8_HUMAN	596	L	R	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H221	ABCG8_HUMAN	259	A	V	Polymorphism	-
Q9H221	ABCG8_HUMAN	574	G	R	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H221	ABCG8_HUMAN	238	E	K	Unclassified	Sitosterolemia (STSL) [MIM:210250]
Q9H221	ABCG8_HUMAN	210	V	M	Polymorphism	-
Q9H221	ABCG8_HUMAN	54	Y	C	Polymorphism	-
Q9H221	ABCG8_HUMAN	405	R	H	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H221	ABCG8_HUMAN	184	R	H	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H221	ABCG8_HUMAN	400	T	K	Polymorphism	-
Q9H221	ABCG8_HUMAN	655	M	V	Polymorphism	-
Q9H221	ABCG8_HUMAN	263	R	Q	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H221	ABCG8_HUMAN	641	Y	F	Polymorphism	-
Q9H221	ABCG8_HUMAN	572	L	P	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H221	ABCG8_HUMAN	543	R	S	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H221	ABCG8_HUMAN	501	L	P	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H221	ABCG8_HUMAN	574	G	E	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H222	ABCG5_HUMAN	419	R	H	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H222	ABCG5_HUMAN	419	R	P	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H222	ABCG5_HUMAN	517	T	S	Polymorphism	-
Q9H222	ABCG5_HUMAN	437	N	K	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H222	ABCG5_HUMAN	389	R	H	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H222	ABCG5_HUMAN	523	I	V	Polymorphism	-
Q9H222	ABCG5_HUMAN	604	Q	E	Polymorphism	-
Q9H222	ABCG5_HUMAN	50	R	C	Polymorphism	-
Q9H222	ABCG5_HUMAN	550	R	S	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H222	ABCG5_HUMAN	600	C	Y	Polymorphism	-
Q9H222	ABCG5_HUMAN	146	E	Q	Disease	Sitosterolemia (STSL) [MIM:210250]
Q9H222	ABCG5_HUMAN	622	M	V	Polymorphism	-
Q9H223	EHD4_HUMAN	154	V	I	Polymorphism	-
Q9H227	GBA3_HUMAN	172	M	I	Polymorphism	-
Q9H227	GBA3_HUMAN	354	C	R	Polymorphism	-
Q9H227	GBA3_HUMAN	106	D	N	Polymorphism	-
Q9H227	GBA3_HUMAN	213	R	P	Polymorphism	-
Q9H228	S1PR5_HUMAN	318	L	Q	Polymorphism	-
Q9H237	PORCN_HUMAN	331	L	R	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	168	G	R	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	228	R	C	Unclassified	-
Q9H237	PORCN_HUMAN	361	E	V	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	341	H	L	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	365	R	G	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	385	C	Y	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	439	W	R	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	60	G	R	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	136	S	F	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	252	H	Y	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	258	V	E	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	365	R	Q	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	385	C	R	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	374	A	P	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H237	PORCN_HUMAN	297	S	L	Disease	Focal dermal hypoplasia (FODH) [MIM:305600]
Q9H244	P2Y12_HUMAN	187	H	Q	Disease	Bleeding disorder, platelet-type 8 (BDPLT8) [MIM:609821]
Q9H244	P2Y12_HUMAN	265	R	W	Disease	Bleeding disorder, platelet-type 8 (BDPLT8) [MIM:609821]
Q9H244	P2Y12_HUMAN	330	E	G	Polymorphism	-
Q9H244	P2Y12_HUMAN	256	R	Q	Disease	Bleeding disorder, platelet-type 8 (BDPLT8) [MIM:609821]
Q9H251	CAD23_HUMAN	2954	D	N	Polymorphism	-
Q9H251	CAD23_HUMAN	240	P	L	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	187	V	I	Polymorphism	-
Q9H251	CAD23_HUMAN	3059	P	T	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	755	H	Y	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	960	E	K	Polymorphism	-
Q9H251	CAD23_HUMAN	452	N	S	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	3175	R	H	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1090	V	I	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	301	R	Q	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	424	V	M	Polymorphism	-
Q9H251	CAD23_HUMAN	3062	M	T	Polymorphism	-
Q9H251	CAD23_HUMAN	746	V	I	Polymorphism	-
Q9H251	CAD23_HUMAN	2227	Q	P	Polymorphism	-
Q9H251	CAD23_HUMAN	1443	A	G	Polymorphism	-
Q9H251	CAD23_HUMAN	2962	N	S	Polymorphism	-
Q9H251	CAD23_HUMAN	944	S	G	Polymorphism	-
Q9H251	CAD23_HUMAN	1574	M	T	Polymorphism	-
Q9H251	CAD23_HUMAN	2380	P	L	Polymorphism	-
Q9H251	CAD23_HUMAN	1098	N	S	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1282	N	S	Polymorphism	-
Q9H251	CAD23_HUMAN	2956	R	C	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	2029	R	W	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	3138	R	W	Unclassified	Pituitary adenoma 5, multiple types (PITA5) [MIM:617540]
Q9H251	CAD23_HUMAN	1588	R	W	Polymorphism	-
Q9H251	CAD23_HUMAN	2358	R	Q	Polymorphism	-
Q9H251	CAD23_HUMAN	2531	M	V	Polymorphism	-
Q9H251	CAD23_HUMAN	480	L	Q	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	3125	F	L	Polymorphism	-
Q9H251	CAD23_HUMAN	1236	R	Q	Polymorphism	-
Q9H251	CAD23_HUMAN	2950	I	N	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	1415	S	I	Polymorphism	-
Q9H251	CAD23_HUMAN	1118	G	S	Polymorphism	-
Q9H251	CAD23_HUMAN	2588	E	Q	Polymorphism	-
Q9H251	CAD23_HUMAN	2669	I	V	Polymorphism	-
Q9H251	CAD23_HUMAN	2171	R	C	Polymorphism	-
Q9H251	CAD23_HUMAN	1806	D	E	Polymorphism	-
Q9H251	CAD23_HUMAN	1209	T	A	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1379	R	L	Disease	Pituitary adenoma 5, multiple types (PITA5) [MIM:617540]
Q9H251	CAD23_HUMAN	2833	R	G	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1507	R	Q	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	2912	G	S	Polymorphism	-
Q9H251	CAD23_HUMAN	2125	I	M	Polymorphism	-
Q9H251	CAD23_HUMAN	956	E	K	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	1876	S	N	Polymorphism	-
Q9H251	CAD23_HUMAN	2376	D	N	Polymorphism	-
Q9H251	CAD23_HUMAN	2933	V	E	Polymorphism	-
Q9H251	CAD23_HUMAN	1716	Q	P	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	803	V	I	Polymorphism	-
Q9H251	CAD23_HUMAN	3175	R	C	Polymorphism	-
Q9H251	CAD23_HUMAN	342	N	S	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	2115	R	H	Unclassified	Pituitary adenoma 5, multiple types (PITA5) [MIM:617540]
Q9H251	CAD23_HUMAN	496	S	N	Polymorphism	-
Q9H251	CAD23_HUMAN	990	D	N	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	192	E	Q	Polymorphism	-
Q9H251	CAD23_HUMAN	2473	L	P	Polymorphism	-
Q9H251	CAD23_HUMAN	1912	R	W	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1807	V	M	Polymorphism	-
Q9H251	CAD23_HUMAN	1908	V	I	Polymorphism	-
Q9H251	CAD23_HUMAN	1010	R	H	Polymorphism	-
Q9H251	CAD23_HUMAN	964	R	Q	Polymorphism	-
Q9H251	CAD23_HUMAN	2130	A	V	Polymorphism	-
Q9H251	CAD23_HUMAN	1335	V	A	Polymorphism	-
Q9H251	CAD23_HUMAN	428	D	N	Polymorphism	-
Q9H251	CAD23_HUMAN	366	A	T	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	2853	A	Q	Unclassified	-
Q9H251	CAD23_HUMAN	490	G	A	Polymorphism	-
Q9H251	CAD23_HUMAN	484	A	P	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	3189	R	W	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	3	R	C	Polymorphism	-
Q9H251	CAD23_HUMAN	1930	D	N	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	3189	R	W	Disease	Usher syndrome 1D/F (USH1DF) [MIM:601067]
Q9H251	CAD23_HUMAN	1711	V	I	Polymorphism	-
Q9H251	CAD23_HUMAN	2287	N	K	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	2771	G	S	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	2801	F	V	Polymorphism	-
Q9H251	CAD23_HUMAN	160	D	N	Polymorphism	-
Q9H251	CAD23_HUMAN	2530	T	I	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1671	T	S	Polymorphism	-
Q9H251	CAD23_HUMAN	1437	R	Q	Polymorphism	-
Q9H251	CAD23_HUMAN	2376	D	V	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1368	T	M	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	1575	A	T	Polymorphism	-
Q9H251	CAD23_HUMAN	3296	D	N	Unclassified	Pituitary adenoma 5, multiple types (PITA5) [MIM:617540]
Q9H251	CAD23_HUMAN	1788	P	L	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1496	Q	H	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	2517	S	G	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1626	D	A	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	361	A	S	Polymorphism	-
Q9H251	CAD23_HUMAN	1060	R	W	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	2968	V	A	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1206	P	R	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	247	E	K	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1675	V	I	Polymorphism	-
Q9H251	CAD23_HUMAN	3080	A	T	Polymorphism	-
Q9H251	CAD23_HUMAN	3245	S	F	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	2066	R	Q	Polymorphism	-
Q9H251	CAD23_HUMAN	1186	G	D	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	1620	V	M	Polymorphism	-
Q9H251	CAD23_HUMAN	2438	E	K	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	1586	A	P	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	2283	V	I	Polymorphism	-
Q9H251	CAD23_HUMAN	1888	F	S	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	582	R	Q	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	2744	G	S	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	2148	D	N	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	2465	R	W	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	1520	I	M	Polymorphism	-
Q9H251	CAD23_HUMAN	1887	T	I	Polymorphism	-
Q9H251	CAD23_HUMAN	1595	E	K	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	1222	A	T	Polymorphism	-
Q9H251	CAD23_HUMAN	1351	N	D	Polymorphism	-
Q9H251	CAD23_HUMAN	1417	R	W	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	2017	G	S	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251	CAD23_HUMAN	1341	D	N	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	124	D	G	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	2489	R	H	Polymorphism	-
Q9H251	CAD23_HUMAN	2045	D	N	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	1846	D	N	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	2608	R	H	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	2202	D	N	Disease	Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251	CAD23_HUMAN	1804	R	Q	Polymorphism	-
Q9H251	CAD23_HUMAN	2044	E	K	Polymorphism	-
Q9H251	CAD23_HUMAN	1349	R	C	Polymorphism	-
Q9H251	CAD23_HUMAN	1999	T	S	Polymorphism	-
Q9H251	CAD23_HUMAN	1746	R	Q	Disease	Usher syndrome 1D (USH1D) [MIM:601067]
Q9H252	KCNH6_HUMAN	165	G	R	Polymorphism	-
Q9H252	KCNH6_HUMAN	925	T	M	Polymorphism	-
Q9H254	SPTN4_HUMAN	1331	G	S	Polymorphism	-
Q9H257	CARD9_HUMAN	373	R	P	Disease	Candidiasis, familial, 2 (CANDF2) [MIM:212050]
Q9H257	CARD9_HUMAN	72	G	S	Disease	Candidiasis, familial, 2 (CANDF2) [MIM:212050]
Q9H257	CARD9_HUMAN	12	S	N	Polymorphism	-
Q9H257	CARD9_HUMAN	101	R	C	Disease	Candidiasis, familial, 2 (CANDF2) [MIM:212050]
Q9H267	VP33B_HUMAN	513	F	S	Polymorphism	-
Q9H267	VP33B_HUMAN	514	G	S	Polymorphism	-
Q9H267	VP33B_HUMAN	243	S	F	Disease	Arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) [MIM:208085]
Q9H267	VP33B_HUMAN	30	L	P	Disease	Arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) [MIM:208085]
Q9H269	VPS16_HUMAN	52	N	K	Disease	-
Q9H269	VPS16_HUMAN	637	S	I	Polymorphism	-
Q9H270	VPS11_HUMAN	846	C	G	Disease	Leukodystrophy, hypomyelinating, 12 (HLD12) [MIM:616683]
Q9H270	VPS11_HUMAN	770	V	I	Polymorphism	-
Q9H295	DCSTP_HUMAN	349	D	G	Polymorphism	-
Q9H2A2	AL8A1_HUMAN	402	F	S	Polymorphism	-
Q9H2A7	CXL16_HUMAN	123	I	T	Polymorphism	-
Q9H2A7	CXL16_HUMAN	181	A	V	Polymorphism	-
Q9H2A9	CHST8_HUMAN	247	R	H	Unclassified	A colorectal cancer sample
Q9H2A9	CHST8_HUMAN	77	R	W	Disease	Peeling skin syndrome 3 (PSS3) [MIM:616265]
Q9H2B2	SYT4_HUMAN	142	S	N	Polymorphism	-
Q9H2B4	S26A1_HUMAN	185	T	M	Disease	Nephrolithiasis, calcium oxalate (CAON) [MIM:167030]
Q9H2B4	S26A1_HUMAN	56	A	T	Unclassified	Nephrolithiasis, calcium oxalate (CAON) [MIM:167030]
Q9H2B4	S26A1_HUMAN	358	S	L	Disease	Nephrolithiasis, calcium oxalate (CAON) [MIM:167030]
Q9H2B4	S26A1_HUMAN	556	Q	R	Polymorphism	-
Q9H2C0	GAN_HUMAN	79	S	L	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	102	I	T	Disease	-
Q9H2C0	GAN_HUMAN	545	R	C	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	438	V	I	Disease	-
Q9H2C0	GAN_HUMAN	52	S	G	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	86	I	F	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	486	E	K	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	423	I	T	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	570	C	Y	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	269	R	Q	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	82	V	F	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	138	R	H	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	309	L	R	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	15	R	S	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	315	P	L	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	474	G	R	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	368	G	R	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	545	R	H	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	51	A	P	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	89	Y	C	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C0	GAN_HUMAN	195	V	F	Disease	Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
Q9H2C2	ARV1_HUMAN	101	G	E	Polymorphism	-
Q9H2C2	ARV1_HUMAN	189	G	R	Disease	Epileptic encephalopathy, early infantile, 38 (EIEE38) [MIM:617020]
Q9H2C8	O51V1_HUMAN	233	S	L	Polymorphism	-
Q9H2C8	O51V1_HUMAN	211	L	V	Polymorphism	-
Q9H2D1	MFTC_HUMAN	147	R	H	Disease	Exercise intolerance, riboflavin-responsive (RREI) [MIM:616839]
Q9H2D1	MFTC_HUMAN	117	R	H	Polymorphism	-
Q9H2D6	TARA_HUMAN	217	S	N	Polymorphism	-
Q9H2D6	TARA_HUMAN	1187	F	L	Polymorphism	-
Q9H2D6	TARA_HUMAN	1019	G	R	Disease	Deafness, autosomal recessive, 28 (DFNB28) [MIM:609823]
Q9H2D6	TARA_HUMAN	1377	W	R	Polymorphism	-
Q9H2D6	TARA_HUMAN	817	T	S	Polymorphism	-
Q9H2D6	TARA_HUMAN	863	N	K	Polymorphism	-
Q9H2D6	TARA_HUMAN	493	S	N	Polymorphism	-
Q9H2D6	TARA_HUMAN	1372	E	D	Polymorphism	-
Q9H2D6	TARA_HUMAN	1300	H	R	Polymorphism	-
Q9H2E6	SEM6A_HUMAN	518	Y	H	Polymorphism	-
Q9H2E6	SEM6A_HUMAN	567	D	E	Polymorphism	-
Q9H2E6	SEM6A_HUMAN	559	R	H	Polymorphism	-
Q9H2F3	3BHS7_HUMAN	147	E	K	Disease	Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]
Q9H2F3	3BHS7_HUMAN	250	T	A	Polymorphism	-
Q9H2F3	3BHS7_HUMAN	347	L	P	Polymorphism	-
Q9H2F3	3BHS7_HUMAN	19	G	S	Disease	Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]
Q9H2F5	EPC1_HUMAN	123	V	L	Polymorphism	-
Q9H2F9	CCD68_HUMAN	249	V	A	Polymorphism	-
Q9H2G2	SLK_HUMAN	666	G	E	Polymorphism	-
Q9H2G2	SLK_HUMAN	604	E	Q	Unclassified	An ovarian serous carcinoma sample
Q9H2G2	SLK_HUMAN	552	C	Y	Polymorphism	-
Q9H2G2	SLK_HUMAN	679	I	T	Polymorphism	-
Q9H2G2	SLK_HUMAN	658	A	G	Polymorphism	-
Q9H2G2	SLK_HUMAN	697	T	I	Polymorphism	-
Q9H2G2	SLK_HUMAN	405	Q	K	Unclassified	A lung adenocarcinoma sample
Q9H2G2	SLK_HUMAN	683	K	N	Polymorphism	-
Q9H2G4	TSYL2_HUMAN	262	I	M	Unclassified	-
Q9H2G9	GO45_HUMAN	196	R	Q	Polymorphism	-
Q9H2G9	GO45_HUMAN	40	Q	R	Polymorphism	-
Q9H2H8	PPIL3_HUMAN	146	D	E	Polymorphism	-
Q9H2I8	LRMDA_HUMAN	153	S	F	Polymorphism	-
Q9H2J7	S6A15_HUMAN	603	I	M	Polymorphism	-
Q9H2J7	S6A15_HUMAN	400	A	V	Polymorphism	-
Q9H2K0	IF3M_HUMAN	68	T	I	Polymorphism	-
Q9H2K0	IF3M_HUMAN	243	F	L	Polymorphism	-
Q9H2K8	TAOK3_HUMAN	727	C	Y	Polymorphism	-
Q9H2K8	TAOK3_HUMAN	20	P	T	Unclassified	A lung adenocarcinoma sample
Q9H2K8	TAOK3_HUMAN	392	S	Y	Unclassified	A lung small cell carcinoma sample
Q9H2K8	TAOK3_HUMAN	47	S	N	Polymorphism	-
Q9H2L4	TMM60_HUMAN	42	V	G	Polymorphism	-
Q9H2L5	RASF4_HUMAN	88	R	G	Polymorphism	-
Q9H2L5	RASF4_HUMAN	10	H	Y	Polymorphism	-
Q9H2M9	RBGPR_HUMAN	1052	G	C	Disease	Martsolf syndrome (MARTS) [MIM:212720]
Q9H2M9	RBGPR_HUMAN	863	T	A	Polymorphism	-
Q9H2M9	RBGPR_HUMAN	1092	S	T	Polymorphism	-
Q9H2P0	ADNP_HUMAN	1094	G	V	Unclassified	-
Q9H2R5	KLK15_HUMAN	137	A	T	Unclassified	A breast cancer sample
Q9H2R5	KLK15_HUMAN	134	P	L	Polymorphism	-
Q9H2S5	RNF39_HUMAN	268	D	N	Polymorphism	-
Q9H2S5	RNF39_HUMAN	304	A	E	Polymorphism	-
Q9H2S5	RNF39_HUMAN	203	S	P	Polymorphism	-
Q9H2S5	RNF39_HUMAN	245	A	T	Polymorphism	-
Q9H2U1	DHX36_HUMAN	416	S	C	Polymorphism	-
Q9H2U1	DHX36_HUMAN	583	I	N	Polymorphism	-
Q9H2U1	DHX36_HUMAN	151	E	K	Polymorphism	-
Q9H2U2	IPYR2_HUMAN	167	P	L	Disease	Sudden cardiac failure, infantile (SCFI) [MIM:617222]
Q9H2U2	IPYR2_HUMAN	61	S	P	Disease	Sudden cardiac failure, infantile (SCFI) [MIM:617222]
Q9H2U2	IPYR2_HUMAN	282	K	N	Polymorphism	-
Q9H2U2	IPYR2_HUMAN	294	Q	P	Disease	Sudden cardiac failure, infantile (SCFI) [MIM:617222]
Q9H2U2	IPYR2_HUMAN	172	E	K	Disease	Sudden cardiac failure, alcohol-induced (SCFAI) [MIM:617223]
Q9H2U2	IPYR2_HUMAN	172	E	K	Disease	Sudden cardiac failure, infantile (SCFI) [MIM:617222]
Q9H2U2	IPYR2_HUMAN	228	P	L	Disease	Sudden cardiac failure, alcohol-induced (SCFAI) [MIM:617223]
Q9H2U2	IPYR2_HUMAN	127	R	L	Disease	Sudden cardiac failure, infantile (SCFI) [MIM:617222]
Q9H2U2	IPYR2_HUMAN	94	M	V	Disease	Sudden cardiac failure, infantile (SCFI) [MIM:617222]
Q9H2U2	IPYR2_HUMAN	106	M	I	Disease	Sudden cardiac failure, infantile (SCFI) [MIM:617222]
Q9H2U9	ADAM7_HUMAN	14	P	S	Unclassified	A cutaneous metastatic melanoma sample
Q9H2U9	ADAM7_HUMAN	173	L	P	Unclassified	-
Q9H2U9	ADAM7_HUMAN	593	F	L	Unclassified	-
Q9H2U9	ADAM7_HUMAN	639	E	K	Unclassified	A cutaneous metastatic melanoma sample
Q9H2U9	ADAM7_HUMAN	735	L	P	Polymorphism	-
Q9H2U9	ADAM7_HUMAN	359	M	I	Unclassified	A cutaneous metastatic melanoma sample
Q9H2U9	ADAM7_HUMAN	302	G	E	Unclassified	A cutaneous metastatic melanoma sample
Q9H2U9	ADAM7_HUMAN	533	G	E	Unclassified	A cutaneous metastatic melanoma sample
Q9H2U9	ADAM7_HUMAN	638	N	H	Polymorphism	-
Q9H2U9	ADAM7_HUMAN	703	S	N	Unclassified	A cutaneous metastatic melanoma sample
Q9H2U9	ADAM7_HUMAN	180	V	A	Unclassified	A cutaneous metastatic melanoma sample
Q9H2U9	ADAM7_HUMAN	244	V	M	Polymorphism	-
Q9H2U9	ADAM7_HUMAN	36	P	S	Unclassified	A cutaneous metastatic melanoma sample
Q9H2U9	ADAM7_HUMAN	25	E	Q	Polymorphism	-
Q9H2U9	ADAM7_HUMAN	570	L	V	Polymorphism	-
Q9H2U9	ADAM7_HUMAN	31	R	C	Unclassified	A cutaneous metastatic melanoma sample
Q9H2U9	ADAM7_HUMAN	106	H	Y	Unclassified	A cutaneous metastatic melanoma sample
Q9H2U9	ADAM7_HUMAN	205	I	V	Polymorphism	-
Q9H2U9	ADAM7_HUMAN	243	H	Y	Unclassified	A cutaneous metastatic melanoma sample
Q9H2U9	ADAM7_HUMAN	453	I	T	Polymorphism	-
Q9H2V7	SPNS1_HUMAN	230	A	P	Polymorphism	-
Q9H2W1	M4A6A_HUMAN	185	T	S	Polymorphism	-
Q9H2W1	M4A6A_HUMAN	183	A	S	Polymorphism	-
Q9H2W6	RM46_HUMAN	106	H	Y	Polymorphism	-
Q9H2X0	CHRD_HUMAN	630	M	L	Polymorphism	-
Q9H2X0	CHRD_HUMAN	94	P	S	Polymorphism	-
Q9H2X3	CLC4M_HUMAN	251	Y	C	Polymorphism	-
Q9H2X3	CLC4M_HUMAN	291	D	N	Polymorphism	-
Q9H2X3	CLC4M_HUMAN	205	Y	C	Polymorphism	-
Q9H2X3	CLC4M_HUMAN	164	R	Q	Polymorphism	-
Q9H2X6	HIPK2_HUMAN	792	R	Q	Polymorphism	-
Q9H2X6	HIPK2_HUMAN	1027	R	Q	Polymorphism	-
Q9H2X9	S12A5_HUMAN	847	G	D	Unclassified	A colorectal cancer sample
Q9H2X9	S12A5_HUMAN	426	L	P	Disease	Epileptic encephalopathy, early infantile, 34 (EIEE34) [MIM:616645]
Q9H2X9	S12A5_HUMAN	975	R	H	Disease	Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685]
Q9H2X9	S12A5_HUMAN	311	L	H	Disease	Epileptic encephalopathy, early infantile, 34 (EIEE34) [MIM:616645]
Q9H2X9	S12A5_HUMAN	551	G	D	Disease	Epileptic encephalopathy, early infantile, 34 (EIEE34) [MIM:616645]
Q9H2X9	S12A5_HUMAN	1100	P	L	Polymorphism	-
Q9H2X9	S12A5_HUMAN	407	P	A	Polymorphism	-
Q9H2X9	S12A5_HUMAN	1071	R	W	Polymorphism	-
Q9H2X9	S12A5_HUMAN	1072	R	C	Disease	Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685]
Q9H2Y7	ZN106_HUMAN	646	I	T	Polymorphism	-
Q9H2Y7	ZN106_HUMAN	103	W	R	Polymorphism	-
Q9H2Y7	ZN106_HUMAN	1162	P	T	Polymorphism	-
Q9H2Y7	ZN106_HUMAN	656	M	V	Polymorphism	-
Q9H2Y9	SO5A1_HUMAN	33	L	F	Polymorphism	-
Q9H300	PARL_HUMAN	262	V	L	Polymorphism	-
Q9H300	PARL_HUMAN	137	A	G	Polymorphism	-
Q9H306	MMP27_HUMAN	447	D	N	Polymorphism	-
Q9H306	MMP27_HUMAN	304	W	L	Polymorphism	-
Q9H306	MMP27_HUMAN	30	M	V	Polymorphism	-
Q9H306	MMP27_HUMAN	266	E	V	Polymorphism	-
Q9H306	MMP27_HUMAN	24	T	M	Polymorphism	-
Q9H306	MMP27_HUMAN	477	I	V	Polymorphism	-
Q9H306	MMP27_HUMAN	22	R	W	Polymorphism	-
Q9H307	PININ_HUMAN	671	S	G	Polymorphism	-
Q9H310	RHBG_HUMAN	339	C	R	Polymorphism	-
Q9H310	RHBG_HUMAN	315	G	R	Polymorphism	-
Q9H310	RHBG_HUMAN	143	V	D	Polymorphism	-
Q9H310	RHBG_HUMAN	76	G	D	Polymorphism	-
Q9H320	VCX1_HUMAN	70	A	G	Polymorphism	-
Q9H320	VCX1_HUMAN	194	P	L	Polymorphism	-
Q9H321	VCX3B_HUMAN	15	K	T	Polymorphism	-
Q9H322	VCX2_HUMAN	104	L	P	Polymorphism	-
Q9H322	VCX2_HUMAN	110	V	L	Polymorphism	-
Q9H322	VCX2_HUMAN	138	T	S	Polymorphism	-
Q9H322	VCX2_HUMAN	70	A	G	Polymorphism	-
Q9H324	ATS10_HUMAN	134	T	S	Polymorphism	-
Q9H324	ATS10_HUMAN	25	A	T	Disease	Weill-Marchesani syndrome 1 (WMS1) [MIM:277600]
Q9H324	ATS10_HUMAN	119	R	Q	Polymorphism	-
Q9H329	E41LB_HUMAN	816	N	T	Polymorphism	-
Q9H330	TM245_HUMAN	314	A	T	Polymorphism	-
Q9H330	TM245_HUMAN	787	T	A	Polymorphism	-
Q9H330	TM245_HUMAN	9	D	E	Polymorphism	-
Q9H334	FOXP1_HUMAN	597	N	T	Polymorphism	-
Q9H334	FOXP1_HUMAN	107	I	T	Polymorphism	-
Q9H334	FOXP1_HUMAN	101	M	V	Polymorphism	-
Q9H334	FOXP1_HUMAN	570	N	S	Polymorphism	-
Q9H334	FOXP1_HUMAN	215	P	A	Polymorphism	-
Q9H334	FOXP1_HUMAN	261	S	P	Polymorphism	-
Q9H334	FOXP1_HUMAN	390	T	S	Polymorphism	-
Q9H334	FOXP1_HUMAN	5	S	P	Polymorphism	-
Q9H334	FOXP1_HUMAN	465	R	G	Disease	Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670]
Q9H334	FOXP1_HUMAN	613	T	N	Polymorphism	-
Q9H334	FOXP1_HUMAN	445	V	M	Polymorphism	-
Q9H334	FOXP1_HUMAN	534	W	R	Disease	Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670]
Q9H334	FOXP1_HUMAN	514	R	C	Disease	Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670]
Q9H336	CRLD1_HUMAN	286	A	S	Polymorphism	-
Q9H339	O51B5_HUMAN	160	P	L	Polymorphism	-
Q9H339	O51B5_HUMAN	154	V	I	Polymorphism	-
Q9H339	O51B5_HUMAN	5	G	S	Polymorphism	-
Q9H339	O51B5_HUMAN	220	L	F	Polymorphism	-
Q9H339	O51B5_HUMAN	88	R	G	Polymorphism	-
Q9H339	O51B5_HUMAN	102	I	T	Polymorphism	-
Q9H339	O51B5_HUMAN	78	T	K	Polymorphism	-
Q9H340	O51B6_HUMAN	275	S	R	Polymorphism	-
Q9H340	O51B6_HUMAN	123	T	A	Polymorphism	-
Q9H340	O51B6_HUMAN	5	K	T	Polymorphism	-
Q9H340	O51B6_HUMAN	254	V	L	Polymorphism	-
Q9H340	O51B6_HUMAN	40	N	S	Polymorphism	-
Q9H340	O51B6_HUMAN	145	R	G	Polymorphism	-
Q9H340	O51B6_HUMAN	90	I	T	Polymorphism	-
Q9H340	O51B6_HUMAN	125	R	H	Polymorphism	-
Q9H340	O51B6_HUMAN	169	S	A	Polymorphism	-
Q9H340	O51B6_HUMAN	131	T	I	Polymorphism	-
Q9H340	O51B6_HUMAN	192	F	L	Polymorphism	-
Q9H340	O51B6_HUMAN	172	L	F	Polymorphism	-
Q9H340	O51B6_HUMAN	126	S	N	Polymorphism	-
Q9H341	O51M1_HUMAN	257	L	R	Polymorphism	-
Q9H341	O51M1_HUMAN	102	H	Q	Polymorphism	-
Q9H341	O51M1_HUMAN	256	P	H	Polymorphism	-
Q9H341	O51M1_HUMAN	204	I	T	Polymorphism	-
Q9H341	O51M1_HUMAN	135	L	F	Polymorphism	-
Q9H341	O51M1_HUMAN	318	F	L	Polymorphism	-
Q9H342	O51J1_HUMAN	100	C	Y	Polymorphism	-
Q9H343	O51I1_HUMAN	252	A	S	Polymorphism	-
Q9H343	O51I1_HUMAN	124	R	H	Polymorphism	-
Q9H343	O51I1_HUMAN	164	V	L	Polymorphism	-
Q9H344	O51I2_HUMAN	151	R	P	Polymorphism	-
Q9H344	O51I2_HUMAN	122	R	C	Polymorphism	-
Q9H344	O51I2_HUMAN	263	R	H	Polymorphism	-
Q9H344	O51I2_HUMAN	134	T	A	Polymorphism	-
Q9H346	O52D1_HUMAN	221	Y	F	Polymorphism	-
Q9H346	O52D1_HUMAN	251	I	T	Polymorphism	-
Q9H346	O52D1_HUMAN	304	R	W	Polymorphism	-
Q9H346	O52D1_HUMAN	213	D	E	Polymorphism	-
Q9H346	O52D1_HUMAN	154	R	C	Polymorphism	-
Q9H347	UBQL3_HUMAN	255	C	R	Polymorphism	-
Q9H347	UBQL3_HUMAN	624	R	Q	Polymorphism	-
Q9H347	UBQL3_HUMAN	285	N	D	Polymorphism	-
Q9H347	UBQL3_HUMAN	546	M	T	Polymorphism	-
Q9H347	UBQL3_HUMAN	287	T	A	Polymorphism	-
Q9H347	UBQL3_HUMAN	290	T	S	Polymorphism	-
Q9H3D4	P63_HUMAN	351	D	G	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	343	R	Q	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	318	R	H	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	580	S	P	Disease	Rapp-Hodgkin syndrome (RHS) [MIM:129400]
Q9H3D4	P63_HUMAN	337	R	Q	Disease	Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]
Q9H3D4	P63_HUMAN	319	R	C	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	233	K	E	Disease	Split-hand/foot malformation 4 (SHFM4) [MIM:605289]
Q9H3D4	P63_HUMAN	266	R	Q	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	279	P	H	Unclassified	Colon cancer
Q9H3D4	P63_HUMAN	560	S	A	Unclassified	Ovarian cancer
Q9H3D4	P63_HUMAN	603	D	H	Polymorphism	-
Q9H3D4	P63_HUMAN	243	R	W	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	204	Q	L	Unclassified	Cervical cancer
Q9H3D4	P63_HUMAN	319	R	H	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	318	R	Q	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	129	S	L	Polymorphism	-
Q9H3D4	P63_HUMAN	343	R	W	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	345	C	R	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	352	R	G	Disease	Orofacial cleft 8 (OFC8) [MIM:618149]
Q9H3D4	P63_HUMAN	184	S	L	Unclassified	Neck cancer
Q9H3D4	P63_HUMAN	347	C	S	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	311	S	N	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	319	R	S	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	319	R	H	Disease	Split-hand/foot malformation 4 (SHFM4) [MIM:605289]
Q9H3D4	P63_HUMAN	308	C	Y	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	318	R	H	Disease	Rapp-Hodgkin syndrome (RHS) [MIM:129400]
Q9H3D4	P63_HUMAN	351	D	H	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	187	A	P	Unclassified	Lung carcinoma
Q9H3D4	P63_HUMAN	549	I	T	Disease	Rapp-Hodgkin syndrome (RHS) [MIM:129400]
Q9H3D4	P63_HUMAN	232	K	E	Disease	Split-hand/foot malformation 4 (SHFM4) [MIM:605289]
Q9H3D4	P63_HUMAN	318	R	C	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	553	L	F	Disease	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]
Q9H3D4	P63_HUMAN	348	P	S	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3D4	P63_HUMAN	561	C	G	Disease	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]
Q9H3D4	P63_HUMAN	243	R	Q	Disease	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
Q9H3E2	SNX25_HUMAN	318	E	K	Polymorphism	-
Q9H3E2	SNX25_HUMAN	586	I	V	Polymorphism	-
Q9H3E2	SNX25_HUMAN	725	T	I	Polymorphism	-
Q9H3G5	CPVL_HUMAN	11	S	L	Polymorphism	-
Q9H3G5	CPVL_HUMAN	25	R	H	Polymorphism	-
Q9H3G5	CPVL_HUMAN	435	A	V	Polymorphism	-
Q9H3G5	CPVL_HUMAN	398	R	H	Polymorphism	-
Q9H3H1	MOD5_HUMAN	323	R	Q	Disease	Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873]
Q9H3H1	MOD5_HUMAN	286	K	E	Unclassified	Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873]
Q9H3H1	MOD5_HUMAN	283	I	S	Unclassified	Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873]
Q9H3H1	MOD5_HUMAN	202	F	L	Polymorphism	-
Q9H3H1	MOD5_HUMAN	419	H	P	Unclassified	Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873]
Q9H3H3	CK068_HUMAN	195	Q	R	Polymorphism	-
Q9H3H5	GPT_HUMAN	192	G	S	Disease	Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
Q9H3H5	GPT_HUMAN	264	V	G	Disease	Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
Q9H3H5	GPT_HUMAN	120	L	M	Disease	Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
Q9H3H5	GPT_HUMAN	393	I	V	Polymorphism	-
Q9H3H5	GPT_HUMAN	160	G	S	Disease	Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
Q9H3H5	GPT_HUMAN	117	V	I	Disease	Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
Q9H3H5	GPT_HUMAN	9	M	I	Unclassified	A breast cancer sample
Q9H3H5	GPT_HUMAN	170	Y	C	Disease	Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093]
Q9H3H5	GPT_HUMAN	108	M	I	Disease	Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
Q9H3H9	TCAL2_HUMAN	68	G	A	Polymorphism	-
Q9H3H9	TCAL2_HUMAN	19	D	G	Polymorphism	-
Q9H3J6	CL065_HUMAN	134	A	T	Polymorphism	-
Q9H3L0	MMAD_HUMAN	182	T	N	Disease	Methylmalonic aciduria and homocystinuria, cblD type (MAHCD) [MIM:277410]
Q9H3L0	MMAD_HUMAN	259	L	P	Disease	Methylmalonic aciduria and homocystinuria, cblD type (MAHCD) [MIM:277410]
Q9H3L0	MMAD_HUMAN	249	Y	C	Disease	Methylmalonic aciduria and homocystinuria, cblD type (MAHCD) [MIM:277410]
Q9H3M7	TXNIP_HUMAN	177	R	Q	Polymorphism	-
Q9H3M9	ATX3L_HUMAN	266	L	F	Polymorphism	-
Q9H3M9	ATX3L_HUMAN	332	G	D	Polymorphism	-
Q9H3N8	HRH4_HUMAN	138	A	V	Polymorphism	-
Q9H3N8	HRH4_HUMAN	206	H	R	Polymorphism	-
Q9H3P2	NELFA_HUMAN	335	S	A	Polymorphism	-
Q9H3P7	GCP60_HUMAN	187	E	D	Polymorphism	-
Q9H3Q3	G3ST2_HUMAN	4	M	L	Polymorphism	-
Q9H3R0	KDM4C_HUMAN	492	S	T	Polymorphism	-
Q9H3R0	KDM4C_HUMAN	1039	V	I	Polymorphism	-
Q9H3R0	KDM4C_HUMAN	396	D	N	Polymorphism	-
Q9H3R0	KDM4C_HUMAN	697	N	S	Polymorphism	-
Q9H3R0	KDM4C_HUMAN	767	Q	E	Polymorphism	-
Q9H3R0	KDM4C_HUMAN	206	E	D	Polymorphism	-
Q9H3R0	KDM4C_HUMAN	772	K	R	Polymorphism	-
Q9H3R1	NDST4_HUMAN	12	R	Q	Polymorphism	-
Q9H3R2	MUC13_HUMAN	18	A	V	Polymorphism	-
Q9H3R2	MUC13_HUMAN	364	S	G	Polymorphism	-
Q9H3R2	MUC13_HUMAN	503	R	S	Polymorphism	-
Q9H3R2	MUC13_HUMAN	100	I	T	Polymorphism	-
Q9H3R5	CENPH_HUMAN	2	E	K	Unclassified	A colorectal cancer sample
Q9H3S1	SEM4A_HUMAN	350	F	C	Disease	Cone-rod dystrophy 10 (CORD10) [MIM:610283]
Q9H3S1	SEM4A_HUMAN	345	D	H	Disease	Retinitis pigmentosa 35 (RP35) [MIM:610282]
Q9H3S1	SEM4A_HUMAN	345	D	H	Disease	Cone-rod dystrophy 10 (CORD10) [MIM:610283]
Q9H3S1	SEM4A_HUMAN	350	F	C	Disease	Retinitis pigmentosa 35 (RP35) [MIM:610282]
Q9H3S1	SEM4A_HUMAN	510	R	Q	Polymorphism	-
Q9H3S1	SEM4A_HUMAN	713	R	Q	Polymorphism	-
Q9H3S3	TMPS5_HUMAN	46	R	Q	Polymorphism	-
Q9H3S3	TMPS5_HUMAN	337	P	S	Polymorphism	-
Q9H3S3	TMPS5_HUMAN	369	F	L	Polymorphism	-
Q9H3S3	TMPS5_HUMAN	249	A	V	Polymorphism	-
Q9H3S3	TMPS5_HUMAN	31	D	V	Unclassified	-
Q9H3S3	TMPS5_HUMAN	317	A	S	Unclassified	-
Q9H3S3	TMPS5_HUMAN	125	V	M	Polymorphism	-
Q9H3S4	TPK1_HUMAN	219	N	S	Disease	Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458]
Q9H3S4	TPK1_HUMAN	40	L	P	Disease	Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458]
Q9H3S4	TPK1_HUMAN	50	N	H	Disease	Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458]
Q9H3S5	PIGM_HUMAN	365	F	L	Polymorphism	-
Q9H3S7	PTN23_HUMAN	944	A	T	Polymorphism	-
Q9H3S7	PTN23_HUMAN	1099	P	S	Unclassified	A lung cancer cell line
Q9H3T2	SEM6C_HUMAN	455	T	P	Polymorphism	-
Q9H3U1	UN45A_HUMAN	796	T	M	Polymorphism	-
Q9H3U5	MFSD1_HUMAN	271	I	T	Polymorphism	-
Q9H3U5	MFSD1_HUMAN	24	P	S	Polymorphism	-
Q9H3U5	MFSD1_HUMAN	168	K	E	Polymorphism	-
Q9H3U5	MFSD1_HUMAN	220	I	V	Polymorphism	-
Q9H3V2	MS4A5_HUMAN	123	L	R	Unclassified	A colorectal cancer sample
Q9H3W5	LRRN3_HUMAN	24	D	G	Polymorphism	-
Q9H3Y0	CRSPL_HUMAN	68	D	N	Polymorphism	-
Q9H3Y0	CRSPL_HUMAN	15	F	C	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	255	V	M	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	377	D	E	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	397	A	V	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	88	I	V	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	73	R	C	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	452	P	L	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	457	V	L	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	301	V	L	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	325	P	L	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	218	P	L	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	465	S	T	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	453	A	T	Polymorphism	-
Q9H3Y6	SRMS_HUMAN	75	G	R	Polymorphism	-
Q9H3Z4	DNJC5_HUMAN	115	L	R	Disease	Ceroid lipofuscinosis, neuronal, 4B (CLN4B) [MIM:162350]
Q9H3Z7	ABHGB_HUMAN	10	L	Q	Polymorphism	-
Q9H400	LIME1_HUMAN	211	P	L	Polymorphism	-
Q9H422	HIPK3_HUMAN	500	S	N	Polymorphism	-
Q9H422	HIPK3_HUMAN	170	G	E	Polymorphism	-
Q9H422	HIPK3_HUMAN	729	P	L	Polymorphism	-
Q9H422	HIPK3_HUMAN	191	C	R	Polymorphism	-
Q9H422	HIPK3_HUMAN	474	V	I	Polymorphism	-
Q9H422	HIPK3_HUMAN	142	Q	R	Polymorphism	-
Q9H425	CA198_HUMAN	306	K	R	Polymorphism	-
Q9H425	CA198_HUMAN	274	A	S	Polymorphism	-
Q9H427	KCNKF_HUMAN	323	P	L	Polymorphism	-
Q9H427	KCNKF_HUMAN	260	P	T	Polymorphism	-
Q9H427	KCNKF_HUMAN	95	G	E	Polymorphism	-
Q9H427	KCNKF_HUMAN	261	P	H	Polymorphism	-
Q9H444	CHM4B_HUMAN	129	D	V	Disease	Cataract 31, multiple types (CTRCT31) [MIM:605387]
Q9H444	CHM4B_HUMAN	161	E	K	Disease	Cataract 31, multiple types (CTRCT31) [MIM:605387]
Q9H488	OFUT1_HUMAN	322	L	F	Polymorphism	-
Q9H488	OFUT1_HUMAN	348	D	N	Polymorphism	-
Q9H489	TSY26_HUMAN	246	P	H	Polymorphism	-
Q9H497	TOR3A_HUMAN	13	F	L	Polymorphism	-
Q9H4A3	WNK1_HUMAN	1546	A	V	Polymorphism	-
Q9H4A3	WNK1_HUMAN	823	H	R	Polymorphism	-
Q9H4A3	WNK1_HUMAN	2380	R	W	Polymorphism	-
Q9H4A3	WNK1_HUMAN	419	E	Q	Unclassified	A breast pleomorphic lobular carcinoma sample
Q9H4A3	WNK1_HUMAN	527	D	G	Polymorphism	-
Q9H4A3	WNK1_HUMAN	2362	F	L	Unclassified	A lung adenocarcinoma sample
Q9H4A3	WNK1_HUMAN	1506	C	S	Polymorphism	-
Q9H4A3	WNK1_HUMAN	2190	S	C	Unclassified	A breast pleomorphic lobular carcinoma sample
Q9H4A3	WNK1_HUMAN	1799	Q	E	Unclassified	Breast cancer samples
Q9H4A3	WNK1_HUMAN	665	T	I	Polymorphism	-
Q9H4A3	WNK1_HUMAN	1808	M	I	Polymorphism	-
Q9H4A3	WNK1_HUMAN	509	I	T	Polymorphism	-
Q9H4A3	WNK1_HUMAN	1199	E	G	Unclassified	A colorectal cancer sample
Q9H4A3	WNK1_HUMAN	149	A	V	Polymorphism	-
Q9H4A3	WNK1_HUMAN	1957	R	H	Polymorphism	-
Q9H4A3	WNK1_HUMAN	1823	P	L	Polymorphism	-
Q9H4A3	WNK1_HUMAN	674	T	A	Polymorphism	-
Q9H4A3	WNK1_HUMAN	141	A	T	Polymorphism	-
Q9H4A3	WNK1_HUMAN	1056	T	P	Polymorphism	-
Q9H4A4	AMPB_HUMAN	579	V	I	Polymorphism	-
Q9H4A9	DPEP2_HUMAN	468	H	D	Polymorphism	-
Q9H4A9	DPEP2_HUMAN	201	R	P	Polymorphism	-
Q9H4B0	OSGP2_HUMAN	229	A	P	Polymorphism	-
Q9H4B4	PLK3_HUMAN	483	R	C	Polymorphism	-
Q9H4B4	PLK3_HUMAN	61	T	S	Polymorphism	-
Q9H4B4	PLK3_HUMAN	283	L	F	Polymorphism	-
Q9H4B4	PLK3_HUMAN	618	S	P	Polymorphism	-
Q9H4B4	PLK3_HUMAN	491	D	N	Polymorphism	-
Q9H4B4	PLK3_HUMAN	68	L	F	Polymorphism	-
Q9H4B4	PLK3_HUMAN	498	S	L	Polymorphism	-
Q9H4B6	SAV1_HUMAN	185	A	D	Unclassified	A colon cancer cell line
Q9H4B7	TBB1_HUMAN	307	R	H	Polymorphism	-
Q9H4B7	TBB1_HUMAN	43	Q	P	Polymorphism	-
Q9H4B7	TBB1_HUMAN	43	Q	H	Polymorphism	-
Q9H4B7	TBB1_HUMAN	318	R	W	Disease	Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1) [MIM:613112]
Q9H4B7	TBB1_HUMAN	274	T	M	Polymorphism	-
Q9H4D0	CSTN2_HUMAN	366	V	I	Polymorphism	-
Q9H4D0	CSTN2_HUMAN	193	S	I	Unclassified	A colorectal cancer sample
Q9H4D0	CSTN2_HUMAN	765	R	Q	Unclassified	A colorectal cancer sample
Q9H4D0	CSTN2_HUMAN	331	I	T	Polymorphism	-
Q9H4D5	NXF3_HUMAN	186	N	I	Polymorphism	-
Q9H4E7	DEFI6_HUMAN	287	N	T	Polymorphism	-
Q9H4E7	DEFI6_HUMAN	578	R	H	Polymorphism	-
Q9H4F8	SMOC1_HUMAN	82	V	M	Polymorphism	-
Q9H4F8	SMOC1_HUMAN	278	R	C	Disease	Ophthalmoacromelic syndrome (OAS) [MIM:206920]
Q9H4F8	SMOC1_HUMAN	286	R	H	Disease	Ophthalmoacromelic syndrome (OAS) [MIM:206920]
Q9H4F8	SMOC1_HUMAN	283	T	N	Disease	Ophthalmoacromelic syndrome (OAS) [MIM:206920]
Q9H4G0	E41L1_HUMAN	854	P	S	Disease	Mental retardation, autosomal dominant 11 (MRD11) [MIM:614257]
Q9H4G1	CST9L_HUMAN	109	H	P	Polymorphism	-
Q9H4I0	RD21L_HUMAN	152	I	L	Polymorphism	-
Q9H4I0	RD21L_HUMAN	90	C	R	Polymorphism	-
Q9H4I0	RD21L_HUMAN	423	H	P	Polymorphism	-
Q9H4I2	ZHX3_HUMAN	310	N	S	Polymorphism	-
Q9H4I8	SEHL2_HUMAN	306	C	R	Polymorphism	-
Q9H4I8	SEHL2_HUMAN	46	S	N	Polymorphism	-
Q9H4I8	SEHL2_HUMAN	3	E	K	Polymorphism	-
Q9H4I9	EMRE_HUMAN	46	R	G	Polymorphism	-
Q9H4K1	RIBC2_HUMAN	262	R	Q	Polymorphism	-
Q9H4K1	RIBC2_HUMAN	195	F	L	Polymorphism	-
Q9H4K1	RIBC2_HUMAN	180	R	C	Polymorphism	-
Q9H4K7	MTG2_HUMAN	337	A	V	Polymorphism	-
Q9H4K7	MTG2_HUMAN	47	G	S	Polymorphism	-
Q9H4K7	MTG2_HUMAN	93	H	R	Polymorphism	-
Q9H4L4	SENP3_HUMAN	515	W	R	Polymorphism	-
Q9H4L5	OSBL3_HUMAN	354	M	V	Polymorphism	-
Q9H4L7	SMRCD_HUMAN	140	R	C	Polymorphism	-
Q9H4L7	SMRCD_HUMAN	301	V	A	Polymorphism	-
Q9H4L7	SMRCD_HUMAN	135	L	F	Polymorphism	-
Q9H4L7	SMRCD_HUMAN	245	S	Y	Polymorphism	-
Q9H4L7	SMRCD_HUMAN	351	P	Q	Polymorphism	-
Q9H4L7	SMRCD_HUMAN	66	S	F	Polymorphism	-
Q9H4L7	SMRCD_HUMAN	972	V	A	Polymorphism	-
Q9H4L7	SMRCD_HUMAN	247	S	N	Polymorphism	-
Q9H4M7	PKHA4_HUMAN	742	G	V	Polymorphism	-
Q9H4M7	PKHA4_HUMAN	37	I	V	Polymorphism	-
Q9H4M7	PKHA4_HUMAN	597	R	Q	Polymorphism	-
Q9H4M7	PKHA4_HUMAN	714	T	A	Polymorphism	-
Q9H4Q4	PRD12_HUMAN	31	D	Y	Disease	Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
Q9H4Q4	PRD12_HUMAN	160	W	C	Disease	Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
Q9H4Q4	PRD12_HUMAN	172	E	D	Disease	Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
Q9H4Q4	PRD12_HUMAN	289	H	L	Disease	Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
Q9H4Q4	PRD12_HUMAN	102	I	N	Disease	Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
Q9H4Q4	PRD12_HUMAN	168	R	C	Disease	Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
Q9H4T2	ZSC16_HUMAN	137	R	Q	Unclassified	A colorectal cancer sample
Q9H4W6	COE3_HUMAN	163	R	Q	Disease	Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
Q9H4W6	COE3_HUMAN	66	N	D	Disease	Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
Q9H4W6	COE3_HUMAN	193	K	N	Disease	Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
Q9H4W6	COE3_HUMAN	163	R	P	Disease	Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
Q9H4W6	COE3_HUMAN	209	R	W	Disease	Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
Q9H4W6	COE3_HUMAN	163	R	L	Disease	Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
Q9H4W6	COE3_HUMAN	141	Y	C	Disease	Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
Q9H4W6	COE3_HUMAN	171	G	D	Disease	Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
Q9H4W6	COE3_HUMAN	177	P	L	Disease	Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
Q9H4Y5	GSTO2_HUMAN	130	C	Y	Polymorphism	-
Q9H4Y5	GSTO2_HUMAN	142	N	D	Polymorphism	-
Q9H4Z2	ZN335_HUMAN	65	R	C	Polymorphism	-
Q9H4Z2	ZN335_HUMAN	101	G	S	Polymorphism	-
Q9H4Z2	ZN335_HUMAN	603	Y	H	Polymorphism	-
Q9H4Z2	ZN335_HUMAN	294	S	T	Polymorphism	-
Q9H4Z2	ZN335_HUMAN	1111	R	H	Disease	Microcephaly 10, primary, autosomal recessive (MCPH10) [MIM:615095]
Q9H501	ESF1_HUMAN	386	P	L	Polymorphism	-
Q9H501	ESF1_HUMAN	824	I	L	Polymorphism	-
Q9H501	ESF1_HUMAN	550	I	T	Polymorphism	-
Q9H503	BAFL_HUMAN	3	N	D	Polymorphism	-
Q9H503	BAFL_HUMAN	78	T	S	Polymorphism	-
Q9H511	KLH31_HUMAN	11	N	S	Polymorphism	-
Q9H511	KLH31_HUMAN	156	V	I	Polymorphism	-
Q9H511	KLH31_HUMAN	508	A	T	Polymorphism	-
Q9H553	ALG2_HUMAN	11	S	P	Polymorphism	-
Q9H553	ALG2_HUMAN	68	V	G	Disease	Myasthenic syndrome, congenital, 14 (CMS14) [MIM:616228]
Q9H553	ALG2_HUMAN	367	V	A	Polymorphism	-
Q9H568	ACTL8_HUMAN	245	R	C	Polymorphism	-
Q9H568	ACTL8_HUMAN	3	A	S	Polymorphism	-
Q9H582	ZN644_HUMAN	699	C	Y	Disease	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	956	T	S	Unclassified	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	242	T	M	Unclassified	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	851	D	H	Unclassified	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	587	I	V	Disease	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	706	H	Y	Polymorphism	-
Q9H582	ZN644_HUMAN	707	K	E	Polymorphism	-
Q9H582	ZN644_HUMAN	556	M	V	Polymorphism	-
Q9H582	ZN644_HUMAN	672	S	G	Disease	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	1278	E	G	Unclassified	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	794	A	V	Polymorphism	-
Q9H582	ZN644_HUMAN	1100	R	H	Polymorphism	-
Q9H582	ZN644_HUMAN	550	A	T	Polymorphism	-
Q9H582	ZN644_HUMAN	680	R	G	Disease	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	401	T	A	Unclassified	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	1089	Y	C	Unclassified	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	53	E	Q	Unclassified	A breast cancer sample
Q9H582	ZN644_HUMAN	305	E	K	Unclassified	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	274	E	V	Unclassified	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	683	R	T	Unclassified	Myopia 21, autosomal dominant (MYP21) [MIM:614167]
Q9H582	ZN644_HUMAN	369	K	M	Polymorphism	-
Q9H583	HEAT1_HUMAN	1694	N	S	Polymorphism	-
Q9H583	HEAT1_HUMAN	1433	Y	C	Polymorphism	-
Q9H583	HEAT1_HUMAN	1654	R	H	Polymorphism	-
Q9H583	HEAT1_HUMAN	1854	V	A	Polymorphism	-
Q9H583	HEAT1_HUMAN	1559	S	N	Polymorphism	-
Q9H583	HEAT1_HUMAN	1967	N	D	Polymorphism	-
Q9H583	HEAT1_HUMAN	2077	S	L	Polymorphism	-
Q9H583	HEAT1_HUMAN	957	D	G	Polymorphism	-
Q9H583	HEAT1_HUMAN	607	M	V	Polymorphism	-
Q9H583	HEAT1_HUMAN	2017	E	G	Polymorphism	-
Q9H583	HEAT1_HUMAN	348	H	R	Polymorphism	-
Q9H596	DUS21_HUMAN	167	R	C	Unclassified	A colorectal cancer sample
Q9H596	DUS21_HUMAN	186	M	T	Polymorphism	-
Q9H598	VIAAT_HUMAN	423	S	G	Polymorphism	-
Q9H5F2	CK001_HUMAN	40	V	A	Polymorphism	-
Q9H5F2	CK001_HUMAN	49	K	Q	Polymorphism	-
Q9H5F2	CK001_HUMAN	85	Q	H	Polymorphism	-
Q9H5H4	ZN768_HUMAN	488	A	S	Polymorphism	-
Q9H5H4	ZN768_HUMAN	181	E	D	Polymorphism	-
Q9H5I1	SUV92_HUMAN	383	D	H	Unclassified	A breast cancer sample
Q9H5I5	PIEZ2_HUMAN	2718	R	L	Disease	Arthrogryposis, distal, 5 (DA5) [MIM:108145]
Q9H5I5	PIEZ2_HUMAN	712	M	V	Disease	Arthrogryposis, distal, 5 (DA5) [MIM:108145]
Q9H5I5	PIEZ2_HUMAN	2718	R	P	Disease	Arthrogryposis, distal, 5 (DA5) [MIM:108145]
Q9H5I5	PIEZ2_HUMAN	802	I	F	Disease	Arthrogryposis, distal, 5 (DA5) [MIM:108145]
Q9H5I5	PIEZ2_HUMAN	2739	S	P	Disease	Arthrogryposis, distal, 5 (DA5) [MIM:108145]
Q9H5I5	PIEZ2_HUMAN	2686	R	C	Disease	Marden-Walker syndrome (MWKS) [MIM:248700]
Q9H5I5	PIEZ2_HUMAN	1685	R	P	Disease	Arthrogryposis, distal, with impaired proprioception and touch (DAIPT) [MIM:617146]
Q9H5I5	PIEZ2_HUMAN	1354	V	I	Polymorphism	-
Q9H5I5	PIEZ2_HUMAN	2686	R	H	Disease	Arthrogryposis, distal, 3 (DA3) [MIM:114300]
Q9H5I5	PIEZ2_HUMAN	2463	V	I	Polymorphism	-
Q9H5J0	ZBTB3_HUMAN	574	I	M	Polymorphism	-
Q9H5J0	ZBTB3_HUMAN	455	S	F	Unclassified	A breast cancer sample
Q9H5J0	ZBTB3_HUMAN	424	H	L	Unclassified	A breast cancer sample
Q9H5K3	SG196_HUMAN	258	Q	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249]
Q9H5K3	SG196_HUMAN	301	M	T	Polymorphism	-
Q9H5K3	SG196_HUMAN	140	Y	F	Polymorphism	-
Q9H5K3	SG196_HUMAN	302	V	D	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249]
Q9H5K3	SG196_HUMAN	137	L	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249]
Q9H5K3	SG196_HUMAN	48	S	P	Polymorphism	-
Q9H5K3	SG196_HUMAN	254	V	M	Polymorphism	-
Q9H5K3	SG196_HUMAN	342	M	I	Unclassified	A lung small cell carcinoma sample
Q9H5L6	THAP9_HUMAN	299	L	F	Polymorphism	-
Q9H5L6	THAP9_HUMAN	812	N	D	Polymorphism	-
Q9H5L6	THAP9_HUMAN	833	V	I	Polymorphism	-
Q9H5L6	THAP9_HUMAN	284	M	I	Polymorphism	-
Q9H5P4	PDZD7_HUMAN	66	R	L	Unclassified	Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003]
Q9H5P4	PDZD7_HUMAN	228	G	R	Disease	Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003]
Q9H5P4	PDZD7_HUMAN	285	M	R	Disease	Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003]
Q9H5P4	PDZD7_HUMAN	103	G	R	Disease	Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003]
Q9H5Q4	TFB2M_HUMAN	64	A	T	Polymorphism	-
Q9H5Q4	TFB2M_HUMAN	48	S	F	Polymorphism	-
Q9H5Q4	TFB2M_HUMAN	264	H	Y	Polymorphism	-
Q9H5Q4	TFB2M_HUMAN	156	P	L	Polymorphism	-
Q9H5U6	ZCHC4_HUMAN	396	L	H	Polymorphism	-
Q9H5U6	ZCHC4_HUMAN	382	P	L	Polymorphism	-
Q9H5V8	CDCP1_HUMAN	673	A	V	Polymorphism	-
Q9H5V8	CDCP1_HUMAN	525	Q	R	Polymorphism	-
Q9H5V8	CDCP1_HUMAN	709	D	G	Polymorphism	-
Q9H5Y7	SLIK6_HUMAN	315	P	R	Polymorphism	-
Q9H5Y7	SLIK6_HUMAN	25	L	F	Polymorphism	-
Q9H5Y7	SLIK6_HUMAN	414	Q	R	Polymorphism	-
Q9H5Z1	DHX35_HUMAN	189	I	T	Polymorphism	-
Q9H5Z1	DHX35_HUMAN	703	P	L	Polymorphism	-
Q9H5Z6	F124B_HUMAN	257	I	T	Polymorphism	-
Q9H607	OCEL1_HUMAN	42	R	L	Polymorphism	-
Q9H607	OCEL1_HUMAN	109	A	G	Polymorphism	-
Q9H609	ZN576_HUMAN	81	P	L	Polymorphism	-
Q9H611	PIF1_HUMAN	640	I	N	Polymorphism	-
Q9H628	RERGL_HUMAN	163	M	V	Polymorphism	-
Q9H633	RPP21_HUMAN	149	Q	K	Polymorphism	-
Q9H633	RPP21_HUMAN	77	Q	H	Polymorphism	-
Q9H649	NSUN3_HUMAN	295	A	V	Polymorphism	-
Q9H665	IGFR1_HUMAN	189	W	R	Polymorphism	-
Q9H668	STN1_HUMAN	151	T	A	Polymorphism	-
Q9H668	STN1_HUMAN	135	R	T	Disease	Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) [MIM:617341]
Q9H668	STN1_HUMAN	157	D	Y	Disease	Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) [MIM:617341]
Q9H668	STN1_HUMAN	248	S	C	Polymorphism	-
Q9H694	BICC1_HUMAN	945	N	S	Polymorphism	-
Q9H694	BICC1_HUMAN	932	E	G	Disease	Renal dysplasia, cystic (CYSRD) [MIM:601331]
Q9H694	BICC1_HUMAN	943	S	P	Polymorphism	-
Q9H694	BICC1_HUMAN	711	N	T	Polymorphism	-
Q9H694	BICC1_HUMAN	8	G	D	Polymorphism	-
Q9H694	BICC1_HUMAN	270	M	V	Unclassified	-
Q9H6A0	DEN2D_HUMAN	282	S	N	Polymorphism	-
Q9H6A9	PCX3_HUMAN	564	G	S	Polymorphism	-
Q9H6A9	PCX3_HUMAN	458	S	C	Polymorphism	-
Q9H6A9	PCX3_HUMAN	258	Q	R	Polymorphism	-
Q9H6A9	PCX3_HUMAN	1822	H	Q	Polymorphism	-
Q9H6A9	PCX3_HUMAN	813	K	N	Polymorphism	-
Q9H6B1	Z385D_HUMAN	387	H	Q	Unclassified	A colorectal cancer sample
Q9H6B1	Z385D_HUMAN	386	A	T	Unclassified	A colorectal cancer sample
Q9H6B4	CLMP_HUMAN	124	V	D	Disease	Congenital short bowel syndrome (CSBS) [MIM:615237]
Q9H6B4	CLMP_HUMAN	69	R	H	Polymorphism	-
Q9H6E5	STPAP_HUMAN	442	L	F	Polymorphism	-
Q9H6F5	CCD86_HUMAN	153	Q	H	Polymorphism	-
Q9H6I2	SOX17_HUMAN	259	Y	N	Disease	Vesicoureteral reflux 3 (VUR3) [MIM:613674]
Q9H6I2	SOX17_HUMAN	178	G	C	Disease	Vesicoureteral reflux 3 (VUR3) [MIM:613674]
Q9H6I2	SOX17_HUMAN	33	A	D	Polymorphism	-
Q9H6K4	OPA3_HUMAN	105	Q	E	Disease	Optic atrophy 3 (OPA3) [MIM:165300]
Q9H6K4	OPA3_HUMAN	93	G	S	Disease	Optic atrophy 3 (OPA3) [MIM:165300]
Q9H6L2	TM231_HUMAN	272	Q	P	Disease	Meckel syndrome 11 (MKS11) [MIM:615397]
Q9H6L2	TM231_HUMAN	209	D	N	Disease	Joubert syndrome 20 (JBTS20) [MIM:614970]
Q9H6L2	TM231_HUMAN	6	L	V	Polymorphism	-
Q9H6L5	RETR1_HUMAN	379	Q	E	Polymorphism	-
Q9H6L5	RETR1_HUMAN	216	G	R	Unclassified	-
Q9H6Q3	SLAP2_HUMAN	210	V	M	Polymorphism	-
Q9H6Q4	CIAO3_HUMAN	38	V	M	Polymorphism	-
Q9H6Q4	CIAO3_HUMAN	444	H	R	Polymorphism	-
Q9H6R0	DHX33_HUMAN	483	H	D	Polymorphism	-
Q9H6R0	DHX33_HUMAN	118	R	C	Polymorphism	-
Q9H6R4	NOL6_HUMAN	723	R	W	Polymorphism	-
Q9H6R4	NOL6_HUMAN	52	P	S	Polymorphism	-
Q9H6R6	ZDHC6_HUMAN	41	D	N	Polymorphism	-
Q9H6R7	WDCP_HUMAN	454	P	S	Unclassified	A breast cancer sample
Q9H6R7	WDCP_HUMAN	102	T	M	Polymorphism	-
Q9H6S0	YTDC2_HUMAN	1409	L	Q	Polymorphism	-
Q9H6S0	YTDC2_HUMAN	652	S	N	Polymorphism	-
Q9H6T0	ESRP2_HUMAN	111	S	L	Polymorphism	-
Q9H6T0	ESRP2_HUMAN	627	P	S	Polymorphism	-
Q9H6T0	ESRP2_HUMAN	528	A	V	Polymorphism	-
Q9H6T3	RPAP3_HUMAN	564	D	Y	Polymorphism	-
Q9H6U6	BCAS3_HUMAN	87	N	S	Polymorphism	-
Q9H6U6	BCAS3_HUMAN	106	I	V	Polymorphism	-
Q9H6U8	ALG9_HUMAN	528	I	S	Polymorphism	-
Q9H6U8	ALG9_HUMAN	289	V	I	Polymorphism	-
Q9H6U8	ALG9_HUMAN	255	S	L	Polymorphism	-
Q9H6U8	ALG9_HUMAN	232	A	P	Polymorphism	-
Q9H6U8	ALG9_HUMAN	506	P	L	Polymorphism	-
Q9H6U8	ALG9_HUMAN	287	Y	C	Disease	Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776]
Q9H6U8	ALG9_HUMAN	523	E	K	Disease	Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776]
Q9H6W3	RIOX1_HUMAN	17	K	R	Polymorphism	-
Q9H6W3	RIOX1_HUMAN	364	V	A	Polymorphism	-
Q9H6W3	RIOX1_HUMAN	239	Q	H	Polymorphism	-
Q9H6W3	RIOX1_HUMAN	218	F	S	Polymorphism	-
Q9H6X2	ANTR1_HUMAN	7	R	K	Polymorphism	-
Q9H6X2	ANTR1_HUMAN	326	A	T	Polymorphism	-
Q9H6Y2	WDR55_HUMAN	210	S	F	Polymorphism	-
Q9H6Y2	WDR55_HUMAN	50	R	C	Polymorphism	-
Q9H6Y2	WDR55_HUMAN	151	C	R	Polymorphism	-
Q9H6Y2	WDR55_HUMAN	235	Y	C	Polymorphism	-
Q9H6Y5	MAGIX_HUMAN	173	L	V	Polymorphism	-
Q9H6Y5	MAGIX_HUMAN	112	R	H	Polymorphism	-
Q9H6Y5	MAGIX_HUMAN	323	L	F	Polymorphism	-
Q9H6Y5	MAGIX_HUMAN	53	R	H	Polymorphism	-
Q9H6Y7	RN167_HUMAN	121	N	K	Polymorphism	-
Q9H6Z4	RANB3_HUMAN	314	A	V	Polymorphism	-
Q9H6Z9	EGLN3_HUMAN	234	S	T	Polymorphism	-
Q9H6Z9	EGLN3_HUMAN	136	V	L	Polymorphism	-
Q9H706	GARE1_HUMAN	243	T	N	Polymorphism	-
Q9H706	GARE1_HUMAN	580	V	I	Polymorphism	-
Q9H706	GARE1_HUMAN	720	T	M	Polymorphism	-
Q9H706	GARE1_HUMAN	291	K	R	Polymorphism	-
Q9H706	GARE1_HUMAN	490	A	V	Polymorphism	-
Q9H707	ZN552_HUMAN	242	W	C	Polymorphism	-
Q9H714	PACER_HUMAN	152	G	R	Polymorphism	-
Q9H720	PG2IP_HUMAN	2	P	T	Polymorphism	-
Q9H720	PG2IP_HUMAN	689	H	N	Polymorphism	-
Q9H741	CL049_HUMAN	55	Q	R	Polymorphism	-
Q9H772	GREM2_HUMAN	13	A	V	Disease	Tooth agenesis, selective, 9 (STHAG9) [MIM:617275]
Q9H772	GREM2_HUMAN	136	E	D	Disease	Tooth agenesis, selective, 9 (STHAG9) [MIM:617275]
Q9H772	GREM2_HUMAN	76	Q	E	Disease	Tooth agenesis, selective, 9 (STHAG9) [MIM:617275]
Q9H772	GREM2_HUMAN	131	V	I	Polymorphism	-
Q9H777	RNZ1_HUMAN	355	M	V	Polymorphism	-
Q9H788	SH24A_HUMAN	216	E	G	Polymorphism	-
Q9H788	SH24A_HUMAN	263	G	A	Polymorphism	-
Q9H788	SH24A_HUMAN	275	S	N	Polymorphism	-
Q9H788	SH24A_HUMAN	209	E	G	Polymorphism	-
Q9H790	EXO5_HUMAN	172	G	V	Polymorphism	-
Q9H790	EXO5_HUMAN	115	D	N	Polymorphism	-
Q9H792	PEAK1_HUMAN	440	S	P	Polymorphism	-
Q9H792	PEAK1_HUMAN	1077	T	P	Polymorphism	-
Q9H792	PEAK1_HUMAN	611	H	Q	Unclassified	A bladder carcinoma NOS sample
Q9H792	PEAK1_HUMAN	1408	P	Q	Polymorphism	-
Q9H792	PEAK1_HUMAN	1071	R	K	Polymorphism	-
Q9H792	PEAK1_HUMAN	1542	S	T	Polymorphism	-
Q9H792	PEAK1_HUMAN	792	S	I	Polymorphism	-
Q9H792	PEAK1_HUMAN	1035	S	F	Unclassified	A metastatic melanoma sample
Q9H792	PEAK1_HUMAN	836	D	E	Polymorphism	-
Q9H792	PEAK1_HUMAN	1145	P	L	Unclassified	A metastatic melanoma sample
Q9H792	PEAK1_HUMAN	1699	R	G	Polymorphism	-
Q9H792	PEAK1_HUMAN	240	V	I	Polymorphism	-
Q9H792	PEAK1_HUMAN	213	G	R	Polymorphism	-
Q9H799	CPLN1_HUMAN	1200	A	V	Unclassified	Orofaciodigital syndrome 6 (OFD6) [MIM:277170]
Q9H799	CPLN1_HUMAN	1196	L	R	Polymorphism	-
Q9H799	CPLN1_HUMAN	2750	P	S	Polymorphism	-
Q9H799	CPLN1_HUMAN	2143	I	V	Polymorphism	-
Q9H799	CPLN1_HUMAN	875	S	F	Polymorphism	-
Q9H799	CPLN1_HUMAN	1193	R	C	Disease	Orofaciodigital syndrome 6 (OFD6) [MIM:277170]
Q9H799	CPLN1_HUMAN	1345	Q	R	Disease	Orofaciodigital syndrome 6 (OFD6) [MIM:277170]
Q9H799	CPLN1_HUMAN	2592	P	L	Polymorphism	-
Q9H799	CPLN1_HUMAN	1184	R	C	Disease	Orofaciodigital syndrome 6 (OFD6) [MIM:277170]
Q9H799	CPLN1_HUMAN	1772	S	G	Polymorphism	-
Q9H799	CPLN1_HUMAN	1336	R	W	Disease	Joubert syndrome 17 (JBTS17) [MIM:614615]
Q9H799	CPLN1_HUMAN	3062	G	R	Polymorphism	-
Q9H799	CPLN1_HUMAN	322	W	G	Polymorphism	-
Q9H799	CPLN1_HUMAN	1287	D	H	Disease	Orofaciodigital syndrome 6 (OFD6) [MIM:277170]
Q9H799	CPLN1_HUMAN	1794	P	L	Polymorphism	-
Q9H799	CPLN1_HUMAN	2033	F	C	Polymorphism	-
Q9H799	CPLN1_HUMAN	1437	I	T	Polymorphism	-
Q9H799	CPLN1_HUMAN	2033	F	S	Polymorphism	-
Q9H799	CPLN1_HUMAN	1127	S	L	Disease	Orofaciodigital syndrome 6 (OFD6) [MIM:277170]
Q9H799	CPLN1_HUMAN	2837	V	L	Disease	Orofaciodigital syndrome 6 (OFD6) [MIM:277170]
Q9H7B2	RPF2_HUMAN	41	A	G	Polymorphism	-
Q9H7B2	RPF2_HUMAN	60	G	S	Polymorphism	-
Q9H7B7	CG069_HUMAN	32	K	E	Polymorphism	-
Q9H7C9	AAMDC_HUMAN	92	V	M	Polymorphism	-
Q9H7D0	DOCK5_HUMAN	250	Q	R	Polymorphism	-
Q9H7D0	DOCK5_HUMAN	1023	Q	R	Polymorphism	-
Q9H7D0	DOCK5_HUMAN	1285	K	R	Polymorphism	-
Q9H7D0	DOCK5_HUMAN	1836	E	K	Polymorphism	-
Q9H7D7	WDR26_HUMAN	284	D	N	Unclassified	Skraban-Deardorff syndrome (SKDEAS) [MIM:617616]
Q9H7D7	WDR26_HUMAN	172	W	R	Unclassified	Skraban-Deardorff syndrome (SKDEAS) [MIM:617616]
Q9H7D7	WDR26_HUMAN	254	S	R	Unclassified	Skraban-Deardorff syndrome (SKDEAS) [MIM:617616]
Q9H7D7	WDR26_HUMAN	215	L	P	Unclassified	Skraban-Deardorff syndrome (SKDEAS) [MIM:617616]
Q9H7H0	MET17_HUMAN	346	A	P	Polymorphism	-
Q9H7H0	MET17_HUMAN	173	A	S	Polymorphism	-
Q9H7H0	MET17_HUMAN	289	G	A	Polymorphism	-
Q9H7M9	VISTA_HUMAN	187	D	E	Polymorphism	-
Q9H7N4	SFR19_HUMAN	1146	M	T	Polymorphism	-
Q9H7N4	SFR19_HUMAN	895	T	A	Polymorphism	-
Q9H7P9	PKHG2_HUMAN	647	R	H	Polymorphism	-
Q9H7P9	PKHG2_HUMAN	622	I	V	Polymorphism	-
Q9H7P9	PKHG2_HUMAN	1329	P	A	Polymorphism	-
Q9H7P9	PKHG2_HUMAN	992	R	K	Polymorphism	-
Q9H7P9	PKHG2_HUMAN	540	T	I	Polymorphism	-
Q9H7P9	PKHG2_HUMAN	1302	A	T	Polymorphism	-
Q9H7P9	PKHG2_HUMAN	204	R	W	Disease	Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) [MIM:616763]
Q9H7R0	ZN442_HUMAN	152	P	S	Unclassified	A colorectal cancer sample
Q9H7R0	ZN442_HUMAN	422	G	R	Polymorphism	-
Q9H7R0	ZN442_HUMAN	243	C	S	Unclassified	A colorectal cancer sample
Q9H7R0	ZN442_HUMAN	93	I	V	Polymorphism	-
Q9H7R0	ZN442_HUMAN	590	H	L	Unclassified	-
Q9H7R0	ZN442_HUMAN	110	P	T	Polymorphism	-
Q9H7R0	ZN442_HUMAN	443	R	C	Polymorphism	-
Q9H7R5	ZN665_HUMAN	647	V	I	Polymorphism	-
Q9H7R5	ZN665_HUMAN	84	V	A	Polymorphism	-
Q9H7R5	ZN665_HUMAN	157	H	R	Polymorphism	-
Q9H7T0	CTSRB_HUMAN	318	F	Y	Polymorphism	-
Q9H7T9	AUNIP_HUMAN	82	K	T	Polymorphism	-
Q9H7U1	CCSE2_HUMAN	755	C	Y	Polymorphism	-
Q9H7U1	CCSE2_HUMAN	821	P	S	Polymorphism	-
Q9H7U1	CCSE2_HUMAN	84	N	S	Polymorphism	-
Q9H7U1	CCSE2_HUMAN	819	S	P	Polymorphism	-
Q9H7V2	SYNG1_HUMAN	54	G	R	Polymorphism	-
Q9H7X0	NAA60_HUMAN	218	H	Q	Polymorphism	-
Q9H7Y0	DIK2B_HUMAN	128	R	K	Polymorphism	-
Q9H7Y0	DIK2B_HUMAN	146	R	Q	Polymorphism	-
Q9H7Z3	NRDE2_HUMAN	32	C	F	Polymorphism	-
Q9H7Z3	NRDE2_HUMAN	928	E	K	Polymorphism	-
Q9H7Z3	NRDE2_HUMAN	1118	N	S	Polymorphism	-
Q9H7Z7	PGES2_HUMAN	298	R	H	Polymorphism	-
Q9H808	TLE6_HUMAN	510	S	Y	Disease	Preimplantation embryonic lethality 1 (PREMBL1) [MIM:616814]
Q9H813	PACC1_HUMAN	336	K	N	Unclassified	A breast cancer sample
Q9H814	PHAX_HUMAN	82	R	C	Polymorphism	-
Q9H816	DCR1B_HUMAN	462	D	N	Polymorphism	-
Q9H816	DCR1B_HUMAN	46	R	L	Polymorphism	-
Q9H816	DCR1B_HUMAN	510	N	Y	Polymorphism	-
Q9H816	DCR1B_HUMAN	61	H	Y	Polymorphism	-
Q9H845	ACAD9_HUMAN	518	R	H	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	234	S	F	Unclassified	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	469	R	W	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	606	L	H	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	384	V	M	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	532	R	W	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	303	G	S	Unclassified	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	417	R	C	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	413	E	K	Unclassified	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	193	R	W	Unclassified	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	414	R	C	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	271	C	G	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	127	R	K	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	220	A	V	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	477	R	Q	Polymorphism	-
Q9H845	ACAD9_HUMAN	266	R	Q	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	326	A	T	Unclassified	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H845	ACAD9_HUMAN	44	F	I	Disease	Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
Q9H857	NT5D2_HUMAN	91	S	R	Polymorphism	-
Q9H867	MT21D_HUMAN	63	A	D	Polymorphism	-
Q9H869	YYAP1_HUMAN	786	E	Q	Polymorphism	-
Q9H869	YYAP1_HUMAN	412	G	S	Polymorphism	-
Q9H875	PKRI1_HUMAN	106	D	Y	Polymorphism	-
Q9H875	PKRI1_HUMAN	7	S	A	Polymorphism	-
Q9H892	TTC12_HUMAN	73	M	L	Polymorphism	-
Q9H892	TTC12_HUMAN	563	V	A	Polymorphism	-
Q9H892	TTC12_HUMAN	468	M	L	Polymorphism	-
Q9H898	ZMAT4_HUMAN	201	T	A	Polymorphism	-
Q9H8E8	CSR2B_HUMAN	442	R	T	Polymorphism	-
Q9H8E8	CSR2B_HUMAN	400	V	G	Polymorphism	-
Q9H8E8	CSR2B_HUMAN	214	P	L	Polymorphism	-
Q9H8E8	CSR2B_HUMAN	600	P	R	Polymorphism	-
Q9H8E8	CSR2B_HUMAN	738	A	S	Polymorphism	-
Q9H8G2	CAAP1_HUMAN	233	V	M	Polymorphism	-
Q9H8H0	NOL11_HUMAN	115	V	A	Polymorphism	-
Q9H8H2	DDX31_HUMAN	843	R	Q	Polymorphism	-
Q9H8H2	DDX31_HUMAN	153	E	K	Polymorphism	-
Q9H8H2	DDX31_HUMAN	799	I	V	Polymorphism	-
Q9H8H2	DDX31_HUMAN	687	R	Q	Polymorphism	-
Q9H8H3	MET7A_HUMAN	134	A	T	Polymorphism	-
Q9H8J5	MANS1_HUMAN	141	L	V	Polymorphism	-
Q9H8J5	MANS1_HUMAN	375	N	Y	Polymorphism	-
Q9H8J5	MANS1_HUMAN	55	V	I	Polymorphism	-
Q9H8J5	MANS1_HUMAN	165	D	N	Polymorphism	-
Q9H8L6	MMRN2_HUMAN	731	H	D	Polymorphism	-
Q9H8L6	MMRN2_HUMAN	910	V	L	Polymorphism	-
Q9H8L6	MMRN2_HUMAN	831	S	R	Polymorphism	-
Q9H8L6	MMRN2_HUMAN	49	G	S	Polymorphism	-
Q9H8L6	MMRN2_HUMAN	448	V	M	Unclassified	A colorectal cancer sample
Q9H8M1	CQ10B_HUMAN	48	L	F	Polymorphism	-
Q9H8M2	BRD9_HUMAN	170	A	T	Polymorphism	-
Q9H8M2	BRD9_HUMAN	389	A	T	Polymorphism	-
Q9H8M2	BRD9_HUMAN	266	A	T	Polymorphism	-
Q9H8M5	CNNM2_HUMAN	330	L	F	Disease	Hypomagnesemia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418]
Q9H8M5	CNNM2_HUMAN	122	E	K	Disease	Hypomagnesemia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418]
Q9H8M5	CNNM2_HUMAN	269	S	W	Disease	Hypomagnesemia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418]
Q9H8M5	CNNM2_HUMAN	357	E	K	Disease	Hypomagnesemia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418]
Q9H8M5	CNNM2_HUMAN	38	R	Q	Polymorphism	-
Q9H8M5	CNNM2_HUMAN	568	T	I	Disease	Hypomagnesemia 6 (HOMG6) [MIM:613882]
Q9H8M9	EVA1A_HUMAN	150	R	H	Polymorphism	-
Q9H8V3	ECT2_HUMAN	833	T	P	Unclassified	A breast cancer sample
Q9H8V3	ECT2_HUMAN	15	S	T	Polymorphism	-
Q9H8W5	TRI45_HUMAN	375	C	Y	Polymorphism	-
Q9H8W5	TRI45_HUMAN	413	R	Q	Polymorphism	-
Q9H8W5	TRI45_HUMAN	496	M	T	Polymorphism	-
Q9H8W5	TRI45_HUMAN	353	R	Q	Polymorphism	-
Q9H8X2	IPPK_HUMAN	277	R	W	Polymorphism	-
Q9H8X2	IPPK_HUMAN	376	L	F	Polymorphism	-
Q9H8X3	CF208_HUMAN	119	K	R	Polymorphism	-
Q9H8X3	CF208_HUMAN	27	S	C	Polymorphism	-
Q9H8X3	CF208_HUMAN	91	W	R	Polymorphism	-
Q9H8X9	ZDH11_HUMAN	341	R	Q	Polymorphism	-
Q9H8X9	ZDH11_HUMAN	325	L	S	Polymorphism	-
Q9H8X9	ZDH11_HUMAN	372	R	H	Polymorphism	-
Q9H8Y1	VRTN_HUMAN	133	V	M	Unclassified	A colorectal cancer sample
Q9H8Y1	VRTN_HUMAN	53	L	F	Polymorphism	-
Q9H8Y5	ANKZ1_HUMAN	638	Q	P	Polymorphism	-
Q9H8Y5	ANKZ1_HUMAN	585	R	Q	Unclassified	-
Q9H8Y5	ANKZ1_HUMAN	676	P	L	Polymorphism	-
Q9H8Y5	ANKZ1_HUMAN	569	R	W	Polymorphism	-
Q9H8Y5	ANKZ1_HUMAN	152	E	K	Unclassified	-
Q9H8Y8	GORS2_HUMAN	432	S	F	Polymorphism	-
Q9H900	ZWILC_HUMAN	344	S	G	Polymorphism	-
Q9H902	REEP1_HUMAN	107	L	P	Disease	Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
Q9H902	REEP1_HUMAN	19	P	L	Disease	Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
Q9H902	REEP1_HUMAN	23	S	F	Disease	Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
Q9H902	REEP1_HUMAN	20	A	E	Disease	Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
Q9H902	REEP1_HUMAN	56	D	N	Unclassified	Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
Q9H902	REEP1_HUMAN	19	P	R	Disease	Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
Q9H902	REEP1_HUMAN	42	W	R	Disease	Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
Q9H902	REEP1_HUMAN	55	T	K	Unclassified	Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
Q9H930	SP14L_HUMAN	88	M	T	Polymorphism	-
Q9H930	SP14L_HUMAN	377	P	S	Polymorphism	-
Q9H930	SP14L_HUMAN	225	T	M	Polymorphism	-
Q9H936	GHC1_HUMAN	206	P	L	Disease	Epileptic encephalopathy, early infantile, 3 (EIEE3) [MIM:609304]
Q9H939	PPIP2_HUMAN	322	N	D	Polymorphism	-
Q9H939	PPIP2_HUMAN	322	N	S	Polymorphism	-
Q9H967	WDR76_HUMAN	614	S	G	Polymorphism	-
Q9H967	WDR76_HUMAN	153	S	A	Polymorphism	-
Q9H972	CN093_HUMAN	190	A	V	Polymorphism	-
Q9H981	ARP8_HUMAN	56	T	I	Polymorphism	-
Q9H987	SYP2L_HUMAN	833	S	Y	Polymorphism	-
Q9H987	SYP2L_HUMAN	707	P	L	Polymorphism	-
Q9H987	SYP2L_HUMAN	508	P	H	Polymorphism	-
Q9H992	MARH7_HUMAN	100	T	S	Polymorphism	-
Q9H992	MARH7_HUMAN	193	T	I	Polymorphism	-
Q9H992	MARH7_HUMAN	379	G	S	Polymorphism	-
Q9H993	ARMT1_HUMAN	161	H	P	Polymorphism	-
Q9H993	ARMT1_HUMAN	150	G	E	Polymorphism	-
Q9H993	ARMT1_HUMAN	73	K	N	Polymorphism	-
Q9H993	ARMT1_HUMAN	154	S	A	Polymorphism	-
Q9H993	ARMT1_HUMAN	264	I	V	Polymorphism	-
Q9H993	ARMT1_HUMAN	77	P	R	Polymorphism	-
Q9H993	ARMT1_HUMAN	317	A	T	Polymorphism	-
Q9H9A5	CNO10_HUMAN	736	P	S	Polymorphism	-
Q9H9A5	CNO10_HUMAN	348	T	S	Polymorphism	-
Q9H9A6	LRC40_HUMAN	53	Q	P	Polymorphism	-
Q9H9A6	LRC40_HUMAN	500	I	V	Polymorphism	-
Q9H9A7	RMI1_HUMAN	100	Y	H	Polymorphism	-
Q9H9A7	RMI1_HUMAN	455	N	S	Polymorphism	-
Q9H9B1	EHMT1_HUMAN	1173	Y	F	Unclassified	A breast cancer sample
Q9H9B1	EHMT1_HUMAN	43	A	V	Unclassified	A breast cancer sample
Q9H9B1	EHMT1_HUMAN	1075	C	Y	Disease	Kleefstra syndrome 1 (KLEFS1) [MIM:610253]
Q9H9B1	EHMT1_HUMAN	388	A	T	Polymorphism	-
Q9H9B4	SFXN1_HUMAN	26	N	S	Polymorphism	-
Q9H9B4	SFXN1_HUMAN	266	P	S	Polymorphism	-
Q9H9D4	ZN408_HUMAN	541	R	C	Disease	Retinitis pigmentosa 72 (RP72) [MIM:616469]
Q9H9D4	ZN408_HUMAN	126	S	N	Unclassified	Vitreoretinopathy, exudative 6 (EVR6) [MIM:616468]
Q9H9D4	ZN408_HUMAN	492	G	R	Polymorphism	-
Q9H9D4	ZN408_HUMAN	583	Q	K	Polymorphism	-
Q9H9D4	ZN408_HUMAN	337	R	P	Polymorphism	-
Q9H9D4	ZN408_HUMAN	455	H	Y	Disease	Vitreoretinopathy, exudative 6 (EVR6) [MIM:616468]
Q9H9E3	COG4_HUMAN	512	G	R	Disease	Saul-Wilson syndrome (SWILS) [MIM:618150]
Q9H9E3	COG4_HUMAN	729	R	W	Disease	Congenital disorder of glycosylation 2J (CDG2J) [MIM:613489]
Q9H9E3	COG4_HUMAN	158	T	I	Polymorphism	-
Q9H9F9	ARP5_HUMAN	580	P	L	Polymorphism	-
Q9H9F9	ARP5_HUMAN	461	I	L	Polymorphism	-
Q9H9F9	ARP5_HUMAN	483	I	V	Polymorphism	-
Q9H9F9	ARP5_HUMAN	298	R	L	Polymorphism	-
Q9H9J2	RM44_HUMAN	156	L	R	Disease	Combined oxidative phosphorylation deficiency 16 (COXPD16) [MIM:615395]
Q9H9J2	RM44_HUMAN	138	T	I	Polymorphism	-
Q9H9J4	UBP42_HUMAN	1030	L	P	Polymorphism	-
Q9H9L3	I20L2_HUMAN	130	N	S	Polymorphism	-
Q9H9L4	KANL2_HUMAN	445	P	T	Polymorphism	-
Q9H9L4	KANL2_HUMAN	313	N	S	Polymorphism	-
Q9H9P8	L2HDH_HUMAN	57	G	R	Disease	L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9P8	L2HDH_HUMAN	98	H	Y	Disease	L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9P8	L2HDH_HUMAN	55	G	D	Disease	L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9P8	L2HDH_HUMAN	81	K	E	Disease	L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9P8	L2HDH_HUMAN	434	H	P	Disease	L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9P8	L2HDH_HUMAN	178	Y	F	Polymorphism	-
Q9H9P8	L2HDH_HUMAN	33	R	S	Polymorphism	-
Q9H9P8	L2HDH_HUMAN	176	E	D	Disease	L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9P8	L2HDH_HUMAN	18	L	R	Polymorphism	-
Q9H9P8	L2HDH_HUMAN	302	P	L	Disease	L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9P8	L2HDH_HUMAN	98	H	R	Disease	L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9Q4	NHEJ1_HUMAN	89	H	R	Polymorphism	-
Q9H9Q4	NHEJ1_HUMAN	14	A	T	Polymorphism	-
Q9H9Q4	NHEJ1_HUMAN	57	R	G	Disease	Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]
Q9H9Q4	NHEJ1_HUMAN	123	C	R	Disease	Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]
Q9H9Q4	NHEJ1_HUMAN	256	Q	L	Polymorphism	-
Q9H9S0	NANOG_HUMAN	82	K	N	Polymorphism	-
Q9H9S5	FKRP_HUMAN	405	V	L	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	316	P	S	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	79	V	M	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	143	R	S	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	339	R	H	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	309	Y	C	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	307	Y	N	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	293	T	I	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	358	P	L	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	360	D	N	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	300	V	M	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	221	S	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	114	A	G	Unclassified	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	318	C	Y	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153]
Q9H9S5	FKRP_HUMAN	462	P	S	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	315	P	T	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	134	R	W	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	455	A	D	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	312	R	C	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	217	P	T	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	307	Y	N	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153]
Q9H9S5	FKRP_HUMAN	463	N	D	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	160	V	F	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	276	L	I	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	314	T	M	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	300	V	A	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	316	P	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	328	Y	S	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	448	P	L	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	465	Y	S	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	182	Y	C	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	401	D	N	Disease	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
Q9H9S5	FKRP_HUMAN	54	R	W	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	339	R	L	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9S5	FKRP_HUMAN	316	P	R	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]
Q9H9V9	JMJD4_HUMAN	11	A	V	Polymorphism	-
Q9H9V9	JMJD4_HUMAN	16	G	C	Polymorphism	-
Q9H9V9	JMJD4_HUMAN	65	D	E	Polymorphism	-
Q9H9V9	JMJD4_HUMAN	461	A	V	Polymorphism	-
Q9H9Y2	RPF1_HUMAN	223	M	I	Polymorphism	-
Q9H9Y2	RPF1_HUMAN	9	S	G	Polymorphism	-
Q9H9Y4	GPN2_HUMAN	264	R	G	Polymorphism	-
Q9H9Y4	GPN2_HUMAN	227	Q	R	Polymorphism	-
Q9H9Y6	RPA2_HUMAN	295	S	L	Polymorphism	-
Q9H9Y6	RPA2_HUMAN	887	H	R	Polymorphism	-
Q9HA64	KT3K_HUMAN	57	A	V	Polymorphism	-
Q9HA65	TBC17_HUMAN	99	L	P	Polymorphism	-
Q9HA65	TBC17_HUMAN	84	D	G	Polymorphism	-
Q9HA72	CAHM2_HUMAN	194	V	M	Polymorphism	-
Q9HA72	CAHM2_HUMAN	136	V	G	Polymorphism	-
Q9HA77	SYCM_HUMAN	555	Q	P	Polymorphism	-
Q9HA77	SYCM_HUMAN	251	P	L	Disease	Combined oxidative phosphorylation deficiency 27 (COXPD27) [MIM:616672]
Q9HA77	SYCM_HUMAN	440	E	K	Polymorphism	-
Q9HA82	CERS4_HUMAN	353	A	V	Polymorphism	-
Q9HA82	CERS4_HUMAN	119	R	Q	Polymorphism	-
Q9HA82	CERS4_HUMAN	366	A	T	Polymorphism	-
Q9HA82	CERS4_HUMAN	301	G	S	Polymorphism	-
Q9HA82	CERS4_HUMAN	379	R	Q	Polymorphism	-
Q9HA90	EFCC1_HUMAN	528	R	Q	Polymorphism	-
Q9HA92	RSAD1_HUMAN	119	A	T	Polymorphism	-
Q9HA92	RSAD1_HUMAN	126	L	S	Polymorphism	-
Q9HA92	RSAD1_HUMAN	354	E	Q	Polymorphism	-
Q9HAB3	S52A2_HUMAN	123	L	P	Disease	Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
Q9HAB3	S52A2_HUMAN	339	L	P	Disease	Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
Q9HAB3	S52A2_HUMAN	419	G	S	Disease	Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
Q9HAB3	S52A2_HUMAN	306	G	R	Disease	Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
Q9HAB3	S52A2_HUMAN	31	W	S	Disease	Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
Q9HAB3	S52A2_HUMAN	284	A	D	Disease	Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
Q9HAB3	S52A2_HUMAN	52	S	F	Disease	Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
Q9HAB3	S52A2_HUMAN	141	P	T	Disease	Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
Q9HAB3	S52A2_HUMAN	312	L	P	Disease	Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
Q9HAB3	S52A2_HUMAN	305	Y	C	Disease	Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
Q9HAC7	SUCHY_HUMAN	336	R	W	Disease	Glutaric aciduria 3 (GA3) [MIM:231690]
Q9HAD4	WDR41_HUMAN	329	V	I	Polymorphism	-
Q9HAD4	WDR41_HUMAN	260	R	C	Polymorphism	-
Q9HAD4	WDR41_HUMAN	61	G	D	Polymorphism	-
Q9HAH1	ZN556_HUMAN	146	R	L	Polymorphism	-
Q9HAH1	ZN556_HUMAN	353	A	T	Polymorphism	-
Q9HAH1	ZN556_HUMAN	428	E	K	Polymorphism	-
Q9HAH1	ZN556_HUMAN	137	R	C	Polymorphism	-
Q9HAK2	COE2_HUMAN	559	G	S	Polymorphism	-
Q9HAN9	NMNA1_HUMAN	153	L	P	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	178	V	M	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	13	A	T	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	98	V	G	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	72	L	H	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	9	V	M	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	153	L	V	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	239	L	S	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	181	Y	C	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	33	D	G	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	35	M	T	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	147	A	P	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	251	H	P	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	66	R	W	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	207	R	W	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	20	I	N	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	184	I	M	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	156	G	R	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	273	N	D	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	237	R	L	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	237	R	C	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	69	M	V	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	257	E	K	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	151	V	F	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	54	A	V	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	67	V	F	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	217	I	N	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAN9	NMNA1_HUMAN	173	D	G	Disease	Leber congenital amaurosis 9 (LCA9) [MIM:608553]
Q9HAP2	MLXIP_HUMAN	396	E	G	Polymorphism	-
Q9HAP2	MLXIP_HUMAN	539	V	L	Polymorphism	-
Q9HAQ2	KIF9_HUMAN	96	G	A	Polymorphism	-
Q9HAQ2	KIF9_HUMAN	638	R	W	Polymorphism	-
Q9HAQ2	KIF9_HUMAN	78	V	I	Polymorphism	-
Q9HAR2	AGRL3_HUMAN	247	A	S	Polymorphism	-
Q9HAR2	AGRL3_HUMAN	465	R	Q	Polymorphism	-
Q9HAR2	AGRL3_HUMAN	770	T	M	Polymorphism	-
Q9HAR2	AGRL3_HUMAN	915	L	V	Polymorphism	-
Q9HAS3	S28A3_HUMAN	418	L	I	Polymorphism	-
Q9HAS3	S28A3_HUMAN	5	S	N	Polymorphism	-
Q9HAS3	S28A3_HUMAN	221	P	Q	Polymorphism	-
Q9HAS3	S28A3_HUMAN	367	G	R	Polymorphism	-
Q9HAS3	S28A3_HUMAN	328	I	V	Polymorphism	-
Q9HAS3	S28A3_HUMAN	62	D	H	Polymorphism	-
Q9HAS3	S28A3_HUMAN	349	R	Q	Polymorphism	-
Q9HAS3	S28A3_HUMAN	602	C	R	Unclassified	-
Q9HAS3	S28A3_HUMAN	366	A	T	Polymorphism	-
Q9HAS3	S28A3_HUMAN	67	R	K	Polymorphism	-
Q9HAS3	S28A3_HUMAN	585	R	H	Polymorphism	-
Q9HAS3	S28A3_HUMAN	513	Y	F	Polymorphism	-
Q9HAS3	S28A3_HUMAN	131	L	F	Polymorphism	-
Q9HAS3	S28A3_HUMAN	113	Y	C	Polymorphism	-
Q9HAS3	S28A3_HUMAN	4	R	K	Polymorphism	-
Q9HAT1	LMA1L_HUMAN	105	R	Q	Polymorphism	-
Q9HAT1	LMA1L_HUMAN	517	R	S	Polymorphism	-
Q9HAT2	SIAE_HUMAN	309	Q	P	Disease	Autoimmune disease 6 (AIS6) [MIM:613551]
Q9HAT2	SIAE_HUMAN	266	C	G	Disease	Autoimmune disease 6 (AIS6) [MIM:613551]
Q9HAT2	SIAE_HUMAN	400	K	N	Polymorphism	-
Q9HAT2	SIAE_HUMAN	3	A	G	Polymorphism	-
Q9HAT2	SIAE_HUMAN	62	R	H	Polymorphism	-
Q9HAT2	SIAE_HUMAN	467	A	V	Polymorphism	-
Q9HAT2	SIAE_HUMAN	314	R	H	Polymorphism	-
Q9HAT2	SIAE_HUMAN	33	N	S	Polymorphism	-
Q9HAT2	SIAE_HUMAN	404	F	S	Disease	Autoimmune disease 6 (AIS6) [MIM:613551]
Q9HAT2	SIAE_HUMAN	447	H	R	Polymorphism	-
Q9HAT2	SIAE_HUMAN	462	Q	R	Polymorphism	-
Q9HAT2	SIAE_HUMAN	212	G	R	Disease	Autoimmune disease 6 (AIS6) [MIM:613551]
Q9HAT2	SIAE_HUMAN	71	K	R	Polymorphism	-
Q9HAT2	SIAE_HUMAN	393	R	H	Disease	Autoimmune disease 6 (AIS6) [MIM:613551]
Q9HAT2	SIAE_HUMAN	196	C	F	Disease	Autoimmune disease 6 (AIS6) [MIM:613551]
Q9HAT2	SIAE_HUMAN	349	Y	C	Disease	Autoimmune disease 6 (AIS6) [MIM:613551]
Q9HAT2	SIAE_HUMAN	64	G	S	Polymorphism	-
Q9HAT2	SIAE_HUMAN	230	R	W	Disease	Autoimmune disease 6 (AIS6) [MIM:613551]
Q9HAT2	SIAE_HUMAN	312	T	M	Polymorphism	-
Q9HAT2	SIAE_HUMAN	89	M	V	Polymorphism	-
Q9HAT2	SIAE_HUMAN	479	R	C	Disease	Autoimmune disease 6 (AIS6) [MIM:613551]
Q9HAT2	SIAE_HUMAN	456	M	I	Unclassified	-
Q9HAT2	SIAE_HUMAN	161	Q	K	Polymorphism	-
Q9HAU5	RENT2_HUMAN	496	N	S	Polymorphism	-
Q9HAU8	RNPL1_HUMAN	478	V	M	Unclassified	A colorectal cancer sample
Q9HAV0	GBB4_HUMAN	89	K	E	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185]
Q9HAV0	GBB4_HUMAN	53	G	D	Disease	Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185]
Q9HAV4	XPO5_HUMAN	241	S	N	Polymorphism	-
Q9HAV4	XPO5_HUMAN	552	V	I	Unclassified	-
Q9HAV4	XPO5_HUMAN	610	K	N	Polymorphism	-
Q9HAV5	TNR27_HUMAN	57	R	K	Polymorphism	-
Q9HAV5	TNR27_HUMAN	129	T	A	Polymorphism	-
Q9HAW4	CLSPN_HUMAN	1280	S	L	Polymorphism	-
Q9HAW4	CLSPN_HUMAN	439	H	R	Unclassified	A breast cancer sample
Q9HAW4	CLSPN_HUMAN	525	N	S	Polymorphism	-
Q9HAW4	CLSPN_HUMAN	892	P	T	Polymorphism	-
Q9HAW7	UD17_HUMAN	131	R	K	Polymorphism	-
Q9HAW7	UD17_HUMAN	131	R	Q	Polymorphism	-
Q9HAW7	UD17_HUMAN	129	N	K	Polymorphism	-
Q9HAW7	UD17_HUMAN	208	W	R	Polymorphism	-
Q9HAW8	UD110_HUMAN	59	M	I	Polymorphism	-
Q9HAW8	UD110_HUMAN	139	E	K	Polymorphism	-
Q9HAW8	UD110_HUMAN	244	L	I	Polymorphism	-
Q9HAW8	UD110_HUMAN	202	T	I	Polymorphism	-
Q9HAW9	UD18_HUMAN	173	A	G	Polymorphism	-
Q9HAW9	UD18_HUMAN	144	A	V	Polymorphism	-
Q9HAW9	UD18_HUMAN	212	M	L	Polymorphism	-
Q9HAW9	UD18_HUMAN	173	A	V	Polymorphism	-
Q9HAW9	UD18_HUMAN	277	C	Y	Polymorphism	-
Q9HAW9	UD18_HUMAN	202	T	A	Polymorphism	-
Q9HAW9	UD18_HUMAN	53	H	N	Polymorphism	-
Q9HAW9	UD18_HUMAN	132	K	R	Polymorphism	-
Q9HAW9	UD18_HUMAN	154	G	A	Polymorphism	-
Q9HAW9	UD18_HUMAN	231	A	T	Polymorphism	-
Q9HAY2	MAGF1_HUMAN	93	K	R	Polymorphism	-
Q9HAY6	BCDO1_HUMAN	170	T	M	Disease	Hypercarotenemia and vitamin A deficiency, autosomal dominant (HCVAD) [MIM:115300]
Q9HAY6	BCDO1_HUMAN	379	A	V	Polymorphism	-
Q9HAY6	BCDO1_HUMAN	267	R	S	Polymorphism	-
Q9HAZ1	CLK4_HUMAN	363	I	V	Polymorphism	-
Q9HAZ1	CLK4_HUMAN	352	L	F	Polymorphism	-
Q9HAZ2	PRD16_HUMAN	1101	V	M	Polymorphism	-
Q9HAZ2	PRD16_HUMAN	816	N	S	Disease	Left ventricular non-compaction 8 (LVNC8) [MIM:615373]
Q9HAZ2	PRD16_HUMAN	271	E	K	Unclassified	Cardiomyopathy, dilated 1LL (CMD1LL) [MIM:615373]
Q9HAZ2	PRD16_HUMAN	291	P	L	Unclassified	Cardiomyopathy, dilated 1LL (CMD1LL) [MIM:615373]
Q9HAZ2	PRD16_HUMAN	533	S	P	Polymorphism	-
Q9HAZ2	PRD16_HUMAN	633	P	L	Polymorphism	-
Q9HAZ2	PRD16_HUMAN	887	L	P	Unclassified	Cardiomyopathy, dilated 1LL (CMD1LL) [MIM:615373]
Q9HB07	MYG1_HUMAN	349	T	I	Polymorphism	-
Q9HB09	B2L12_HUMAN	47	G	V	Polymorphism	-
Q9HB14	KCNKD_HUMAN	389	G	A	Polymorphism	-
Q9HB14	KCNKD_HUMAN	305	G	R	Polymorphism	-
Q9HB19	PKHA2_HUMAN	186	I	N	Polymorphism	-
Q9HB21	PKHA1_HUMAN	320	T	A	Polymorphism	-
Q9HB29	ILRL2_HUMAN	550	L	P	Polymorphism	-
Q9HB29	ILRL2_HUMAN	352	V	I	Polymorphism	-
Q9HB29	ILRL2_HUMAN	237	I	T	Polymorphism	-
Q9HB31	SEBOX_HUMAN	207	L	S	Polymorphism	-
Q9HB40	RISC_HUMAN	241	V	I	Polymorphism	-
Q9HB40	RISC_HUMAN	3	L	V	Polymorphism	-
Q9HB55	CP343_HUMAN	145	M	I	Polymorphism	-
Q9HB55	CP343_HUMAN	340	P	A	Polymorphism	-
Q9HB55	CP343_HUMAN	27	T	A	Polymorphism	-
Q9HB55	CP343_HUMAN	275	M	I	Polymorphism	-
Q9HB58	SP110_HUMAN	112	W	R	Polymorphism	-
Q9HB58	SP110_HUMAN	8	M	T	Unclassified	A breast cancer sample
Q9HB58	SP110_HUMAN	367	T	M	Polymorphism	-
Q9HB58	SP110_HUMAN	683	G	S	Unclassified	A breast cancer sample
Q9HB58	SP110_HUMAN	299	G	R	Polymorphism	-
Q9HB58	SP110_HUMAN	173	S	L	Polymorphism	-
Q9HB58	SP110_HUMAN	212	E	G	Polymorphism	-
Q9HB58	SP110_HUMAN	579	M	I	Polymorphism	-
Q9HB58	SP110_HUMAN	210	S	A	Polymorphism	-
Q9HB58	SP110_HUMAN	523	M	T	Polymorphism	-
Q9HB58	SP110_HUMAN	425	L	S	Polymorphism	-
Q9HB58	SP110_HUMAN	267	E	G	Polymorphism	-
Q9HB58	SP110_HUMAN	206	A	V	Polymorphism	-
Q9HB58	SP110_HUMAN	207	E	K	Polymorphism	-
Q9HB58	SP110_HUMAN	249	M	V	Polymorphism	-
Q9HB58	SP110_HUMAN	128	A	V	Polymorphism	-
Q9HB63	NET4_HUMAN	205	Y	H	Polymorphism	-
Q9HB65	ELL3_HUMAN	11	Q	E	Polymorphism	-
Q9HB65	ELL3_HUMAN	140	W	R	Polymorphism	-
Q9HB75	PIDD1_HUMAN	331	Q	R	Polymorphism	-
Q9HB90	RRAGC_HUMAN	75	S	Y	Unclassified	-
Q9HB96	FANCE_HUMAN	89	R	L	Polymorphism	-
Q9HB96	FANCE_HUMAN	502	A	T	Polymorphism	-
Q9HB96	FANCE_HUMAN	204	S	L	Polymorphism	-
Q9HB96	FANCE_HUMAN	184	P	Q	Unclassified	Fanconi anemia complementation group E (FANCE) [MIM:600901]
Q9HB96	FANCE_HUMAN	340	G	R	Polymorphism	-
Q9HB96	FANCE_HUMAN	343	R	Q	Polymorphism	-
Q9HBA0	TRPV4_HUMAN	596	L	P	Disease	Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
Q9HBA0	TRPV4_HUMAN	316	R	H	Disease	Charcot-Marie-Tooth disease 2C (CMT2C) [MIM:606071]
Q9HBA0	TRPV4_HUMAN	542	S	Y	Disease	Charcot-Marie-Tooth disease 2C (CMT2C) [MIM:606071]
Q9HBA0	TRPV4_HUMAN	271	R	P	Disease	Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835]
Q9HBA0	TRPV4_HUMAN	600	G	W	Disease	Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
Q9HBA0	TRPV4_HUMAN	799	P	L	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	777	C	Y	Disease	Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
Q9HBA0	TRPV4_HUMAN	278	E	K	Disease	Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
Q9HBA0	TRPV4_HUMAN	295	T	A	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	602	Y	C	Polymorphism	-
Q9HBA0	TRPV4_HUMAN	97	P	R	Disease	Neuronopathy, distal hereditary motor, 8 (HMN8) [MIM:600175]
Q9HBA0	TRPV4_HUMAN	604	I	M	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	331	I	F	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	183	E	K	Polymorphism	-
Q9HBA0	TRPV4_HUMAN	617	F	L	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	89	T	I	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	592	F	L	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	315	R	W	Disease	Charcot-Marie-Tooth disease 2C (CMT2C) [MIM:606071]
Q9HBA0	TRPV4_HUMAN	342	V	F	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	799	P	S	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	232	R	C	Disease	Neuronopathy, distal hereditary motor, 8 (HMN8) [MIM:600175]
Q9HBA0	TRPV4_HUMAN	716	A	S	Disease	Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
Q9HBA0	TRPV4_HUMAN	197	K	R	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	331	I	T	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	270	G	V	Disease	Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835]
Q9HBA0	TRPV4_HUMAN	625	M	I	Disease	Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
Q9HBA0	TRPV4_HUMAN	199	L	F	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	19	P	S	Polymorphism	-
Q9HBA0	TRPV4_HUMAN	273	F	L	Disease	Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835]
Q9HBA0	TRPV4_HUMAN	618	L	P	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	799	P	A	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	269	R	H	Disease	Charcot-Marie-Tooth disease 2C (CMT2C) [MIM:606071]
Q9HBA0	TRPV4_HUMAN	799	P	R	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	775	R	K	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	269	R	H	Disease	Neuronopathy, distal hereditary motor, 8 (HMN8) [MIM:600175]
Q9HBA0	TRPV4_HUMAN	709	L	M	Disease	Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
Q9HBA0	TRPV4_HUMAN	594	R	H	Disease	Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
Q9HBA0	TRPV4_HUMAN	316	R	C	Disease	Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405]
Q9HBA0	TRPV4_HUMAN	797	E	K	Disease	Metatropic dysplasia (MTD) [MIM:156530]
Q9HBA0	TRPV4_HUMAN	797	E	K	Disease	Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
Q9HBA0	TRPV4_HUMAN	316	R	C	Disease	Charcot-Marie-Tooth disease 2C (CMT2C) [MIM:606071]
Q9HBA0	TRPV4_HUMAN	616	R	Q	Disease	Brachyolmia 3 (BCYM3) [MIM:113500]
Q9HBA0	TRPV4_HUMAN	269	R	C	Disease	Charcot-Marie-Tooth disease 2C (CMT2C) [MIM:606071]
Q9HBA0	TRPV4_HUMAN	594	R	H	Disease	Parastremmatic dwarfism (PSTD) [MIM:168400]
Q9HBA0	TRPV4_HUMAN	232	R	C	Disease	Charcot-Marie-Tooth disease 2C (CMT2C) [MIM:606071]
Q9HBA0	TRPV4_HUMAN	620	V	I	Disease	Brachyolmia 3 (BCYM3) [MIM:113500]
Q9HBA0	TRPV4_HUMAN	333	D	G	Disease	Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
Q9HBA9	FOH1B_HUMAN	151	N	K	Polymorphism	-
Q9HBB8	CDHR5_HUMAN	357	R	S	Polymorphism	-
Q9HBB8	CDHR5_HUMAN	702	C	S	Polymorphism	-
Q9HBB8	CDHR5_HUMAN	521	P	S	Polymorphism	-
Q9HBB8	CDHR5_HUMAN	389	D	N	Polymorphism	-
Q9HBB8	CDHR5_HUMAN	165	Q	P	Polymorphism	-
Q9HBE1	PATZ1_HUMAN	685	E	D	Polymorphism	-
Q9HBE4	IL21_HUMAN	56	L	P	Disease	Immunodeficiency, common variable, 11 (CVID11) [MIM:615767]
Q9HBE5	IL21R_HUMAN	191	R	C	Polymorphism	-
Q9HBE5	IL21R_HUMAN	484	G	S	Polymorphism	-
Q9HBE5	IL21R_HUMAN	201	R	L	Disease	Immunodeficiency 56 (IMD56) [MIM:615207]
Q9HBE5	IL21R_HUMAN	318	S	R	Polymorphism	-
Q9HBF5	ST20_HUMAN	57	P	L	Polymorphism	-
Q9HBG4	VPP4_HUMAN	175	G	D	Disease	Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
Q9HBG4	VPP4_HUMAN	524	P	L	Disease	Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
Q9HBG4	VPP4_HUMAN	554	F	L	Polymorphism	-
Q9HBG4	VPP4_HUMAN	580	M	T	Disease	Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
Q9HBG4	VPP4_HUMAN	820	G	R	Disease	Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
Q9HBG4	VPP4_HUMAN	449	R	H	Disease	Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
Q9HBG4	VPP4_HUMAN	807	R	Q	Disease	Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
Q9HBG4	VPP4_HUMAN	2	V	A	Polymorphism	-
Q9HBG4	VPP4_HUMAN	604	H	Q	Polymorphism	-
Q9HBG6	IF122_HUMAN	7	W	C	Disease	Cranioectodermal dysplasia 1 (CED1) [MIM:218330]
Q9HBG6	IF122_HUMAN	495	G	R	Disease	Cranioectodermal dysplasia 1 (CED1) [MIM:218330]
Q9HBG6	IF122_HUMAN	712	L	P	Unclassified	Cranioectodermal dysplasia 1 (CED1) [MIM:218330]
Q9HBG6	IF122_HUMAN	570	F	C	Unclassified	Cranioectodermal dysplasia 1 (CED1) [MIM:218330]
Q9HBG6	IF122_HUMAN	572	G	V	Disease	Cranioectodermal dysplasia 1 (CED1) [MIM:218330]
Q9HBG6	IF122_HUMAN	391	V	L	Unclassified	Cranioectodermal dysplasia 1 (CED1) [MIM:218330]
Q9HBG6	IF122_HUMAN	322	S	F	Disease	Cranioectodermal dysplasia 1 (CED1) [MIM:218330]
Q9HBG6	IF122_HUMAN	502	V	G	Disease	Cranioectodermal dysplasia 1 (CED1) [MIM:218330]
Q9HBG7	LY9_HUMAN	602	M	V	Polymorphism	-
Q9HBH1	DEFM_HUMAN	11	W	R	Polymorphism	-
Q9HBH7	BEX1_HUMAN	11	S	N	Polymorphism	-
Q9HBH7	BEX1_HUMAN	13	S	I	Polymorphism	-
Q9HBH7	BEX1_HUMAN	14	M	V	Polymorphism	-
Q9HBH7	BEX1_HUMAN	66	M	I	Polymorphism	-
Q9HBH7	BEX1_HUMAN	17	A	V	Polymorphism	-
Q9HBH7	BEX1_HUMAN	9	V	L	Polymorphism	-
Q9HBH7	BEX1_HUMAN	40	A	V	Polymorphism	-
Q9HBH9	MKNK2_HUMAN	428	R	Q	Polymorphism	-
Q9HBH9	MKNK2_HUMAN	73	D	N	Polymorphism	-
Q9HBH9	MKNK2_HUMAN	10	Q	K	Polymorphism	-
Q9HBI1	PARVB_HUMAN	52	P	R	Polymorphism	-
Q9HBI1	PARVB_HUMAN	58	V	A	Polymorphism	-
Q9HBI6	CP4FB_HUMAN	446	D	N	Polymorphism	-
Q9HBI6	CP4FB_HUMAN	146	R	C	Polymorphism	-
Q9HBI6	CP4FB_HUMAN	276	C	R	Polymorphism	-
Q9HBJ7	UBP29_HUMAN	586	E	K	Polymorphism	-
Q9HBJ7	UBP29_HUMAN	368	N	S	Polymorphism	-
Q9HBK9	AS3MT_HUMAN	306	T	I	Polymorphism	-
Q9HBK9	AS3MT_HUMAN	173	R	W	Polymorphism	-
Q9HBK9	AS3MT_HUMAN	287	M	T	Polymorphism	-
Q9HBL0	TENS1_HUMAN	528	T	I	Polymorphism	-
Q9HBL0	TENS1_HUMAN	1604	V	I	Polymorphism	-
Q9HBL0	TENS1_HUMAN	1197	W	R	Polymorphism	-
Q9HBL0	TENS1_HUMAN	311	I	M	Polymorphism	-
Q9HBL0	TENS1_HUMAN	466	R	C	Polymorphism	-
Q9HBL0	TENS1_HUMAN	1093	F	L	Unclassified	A breast cancer sample
Q9HBL0	TENS1_HUMAN	1004	R	W	Polymorphism	-
Q9HBL6	LRTM1_HUMAN	43	E	K	Polymorphism	-
Q9HBL6	LRTM1_HUMAN	117	L	V	Polymorphism	-
Q9HBL8	NMRL1_HUMAN	23	T	I	Polymorphism	-
Q9HBL8	NMRL1_HUMAN	252	P	L	Polymorphism	-
Q9HBM0	VEZA_HUMAN	612	V	M	Polymorphism	-
Q9HBM0	VEZA_HUMAN	162	T	A	Polymorphism	-
Q9HBM0	VEZA_HUMAN	496	V	I	Polymorphism	-
Q9HBM0	VEZA_HUMAN	762	G	D	Polymorphism	-
Q9HBM0	VEZA_HUMAN	668	S	A	Polymorphism	-
Q9HBQ8	GGA2B_HUMAN	110	A	V	Polymorphism	-
Q9HBR0	S38AA_HUMAN	559	K	R	Polymorphism	-
Q9HBR0	S38AA_HUMAN	831	A	G	Polymorphism	-
Q9HBT6	CAD20_HUMAN	416	P	T	Unclassified	A breast cancer sample
Q9HBT6	CAD20_HUMAN	371	Q	R	Polymorphism	-
Q9HBT6	CAD20_HUMAN	746	Q	H	Unclassified	A breast cancer sample
Q9HBT6	CAD20_HUMAN	391	P	L	Polymorphism	-
Q9HBT6	CAD20_HUMAN	328	P	H	Polymorphism	-
Q9HBT6	CAD20_HUMAN	228	M	I	Unclassified	A breast cancer sample
Q9HBT7	ZN287_HUMAN	274	K	T	Polymorphism	-
Q9HBT8	Z286A_HUMAN	90	Y	H	Polymorphism	-
Q9HBU1	BARX1_HUMAN	48	A	T	Polymorphism	-
Q9HBU9	POPD2_HUMAN	29	V	I	Polymorphism	-
Q9HBV1	POPD3_HUMAN	106	R	Q	Polymorphism	-
Q9HBV2	SACA1_HUMAN	237	L	S	Polymorphism	-
Q9HBW1	LRRC4_HUMAN	579	T	A	Unclassified	A colorectal cancer sample
Q9HBW9	AGRL4_HUMAN	300	V	L	Polymorphism	-
Q9HBW9	AGRL4_HUMAN	620	A	G	Polymorphism	-
Q9HBW9	AGRL4_HUMAN	599	H	Q	Polymorphism	-
Q9HBX3	SNIT1_HUMAN	24	T	A	Polymorphism	-
Q9HBX8	LGR6_HUMAN	267	N	K	Polymorphism	-
Q9HBX8	LGR6_HUMAN	592	V	A	Polymorphism	-
Q9HBX8	LGR6_HUMAN	516	A	S	Polymorphism	-
Q9HBX8	LGR6_HUMAN	725	G	C	Unclassified	A colorectal cancer sample
Q9HBX8	LGR6_HUMAN	928	P	H	Unclassified	A colorectal cancer sample
Q9HBY0	NOX3_HUMAN	171	T	K	Polymorphism	-
Q9HBY8	SGK2_HUMAN	12	S	T	Polymorphism	-
Q9HBY8	SGK2_HUMAN	349	H	Y	Polymorphism	-
Q9HBY8	SGK2_HUMAN	259	E	K	Unclassified	A lung adenocarcinoma sample
Q9HBZ2	ARNT2_HUMAN	46	R	W	Polymorphism	-
Q9HBZ2	ARNT2_HUMAN	679	G	S	Polymorphism	-
Q9HBZ2	ARNT2_HUMAN	107	R	H	Polymorphism	-
Q9HBZ2	ARNT2_HUMAN	402	R	Q	Polymorphism	-
Q9HBZ2	ARNT2_HUMAN	410	W	R	Polymorphism	-
Q9HC07	TM165_HUMAN	126	R	H	Disease	Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727]
Q9HC07	TM165_HUMAN	304	G	R	Disease	Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727]
Q9HC07	TM165_HUMAN	126	R	C	Disease	Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727]
Q9HC10	OTOF_HUMAN	1547	I	V	Unclassified	A breast cancer sample
Q9HC10	OTOF_HUMAN	1323	E	K	Unclassified	A breast cancer sample
Q9HC10	OTOF_HUMAN	1688	T	K	Polymorphism	-
Q9HC10	OTOF_HUMAN	1625	V	M	Polymorphism	-
Q9HC10	OTOF_HUMAN	1886	V	A	Polymorphism	-
Q9HC10	OTOF_HUMAN	964	A	E	Disease	Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
Q9HC10	OTOF_HUMAN	82	R	C	Polymorphism	-
Q9HC10	OTOF_HUMAN	1888	G	D	Polymorphism	-
Q9HC10	OTOF_HUMAN	1083	A	P	Polymorphism	-
Q9HC10	OTOF_HUMAN	1646	P	S	Polymorphism	-
Q9HC10	OTOF_HUMAN	1825	P	A	Disease	Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
Q9HC10	OTOF_HUMAN	1322	D	E	Polymorphism	-
Q9HC10	OTOF_HUMAN	1138	L	P	Disease	Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
Q9HC10	OTOF_HUMAN	1157	R	Q	Disease	Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
Q9HC10	OTOF_HUMAN	1680	R	H	Polymorphism	-
Q9HC10	OTOF_HUMAN	53	A	V	Polymorphism	-
Q9HC10	OTOF_HUMAN	1987	P	R	Disease	Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
Q9HC10	OTOF_HUMAN	1795	F	C	Disease	Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
Q9HC10	OTOF_HUMAN	818	R	W	Polymorphism	-
Q9HC10	OTOF_HUMAN	515	I	T	Disease	Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
Q9HC10	OTOF_HUMAN	1236	R	Q	Polymorphism	-
Q9HC10	OTOF_HUMAN	822	R	W	Polymorphism	-
Q9HC10	OTOF_HUMAN	794	R	H	Disease	Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
Q9HC10	OTOF_HUMAN	1011	L	P	Disease	Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
Q9HC10	OTOF_HUMAN	515	I	T	Disease	Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
Q9HC10	OTOF_HUMAN	1011	L	P	Disease	Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
Q9HC10	OTOF_HUMAN	490	P	Q	Disease	Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
Q9HC10	OTOF_HUMAN	773	R	S	Polymorphism	-
Q9HC10	OTOF_HUMAN	1939	R	Q	Disease	Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
Q9HC10	OTOF_HUMAN	575	V	M	Polymorphism	-
Q9HC10	OTOF_HUMAN	255	Q	H	Disease	Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
Q9HC16	ABC3G_HUMAN	275	Q	E	Polymorphism	-
Q9HC16	ABC3G_HUMAN	186	H	R	Polymorphism	-
Q9HC16	ABC3G_HUMAN	256	R	H	Polymorphism	-
Q9HC21	TPC_HUMAN	125	G	S	Disease	Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) [MIM:613710]
Q9HC21	TPC_HUMAN	177	G	A	Disease	Microcephaly, Amish type (MCPHA) [MIM:607196]
Q9HC23	PROK2_HUMAN	46	C	Y	Disease	Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
Q9HC23	PROK2_HUMAN	73	R	C	Disease	Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
Q9HC23	PROK2_HUMAN	24	A	P	Disease	Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
Q9HC23	PROK2_HUMAN	50	I	M	Disease	Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
Q9HC23	PROK2_HUMAN	34	C	Y	Disease	Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
Q9HC23	PROK2_HUMAN	32	G	R	Disease	Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
Q9HC24	LFG4_HUMAN	2	A	V	Polymorphism	-
Q9HC24	LFG4_HUMAN	88	I	T	Polymorphism	-
Q9HC29	NOD2_HUMAN	790	R	W	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	113	D	N	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	235	R	C	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	713	R	H	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	760	R	C	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	301	A	V	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	311	R	W	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	463	P	A	Polymorphism	-
Q9HC29	NOD2_HUMAN	908	G	R	Disease	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	725	A	G	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	157	W	R	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	793	V	M	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	758	A	V	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	414	N	S	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	348	L	V	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	481	G	D	Unclassified	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	357	D	A	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	843	E	K	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	382	D	E	Disease	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	294	T	S	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	605	T	N	Disease	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	248	L	R	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	363	I	F	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	955	V	I	Polymorphism	-
Q9HC29	NOD2_HUMAN	755	A	V	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	471	R	C	Polymorphism	-
Q9HC29	NOD2_HUMAN	852	N	S	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	612	A	T	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	464	G	W	Polymorphism	-
Q9HC29	NOD2_HUMAN	924	G	D	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	432	A	V	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	383	E	G	Unclassified	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	431	S	L	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	140	A	T	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	918	A	D	Polymorphism	-
Q9HC29	NOD2_HUMAN	825	N	K	Polymorphism	-
Q9HC29	NOD2_HUMAN	289	N	S	Polymorphism	-
Q9HC29	NOD2_HUMAN	373	R	C	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	352	H	R	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	550	L	V	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	391	R	C	Polymorphism	-
Q9HC29	NOD2_HUMAN	863	M	V	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	702	R	W	Disease	Yao syndrome (YAOS) [MIM:617321]
Q9HC29	NOD2_HUMAN	790	R	Q	Polymorphism	-
Q9HC29	NOD2_HUMAN	885	A	T	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	383	E	K	Disease	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	268	P	S	Polymorphism	-
Q9HC29	NOD2_HUMAN	684	R	W	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	849	A	V	Polymorphism	-
Q9HC29	NOD2_HUMAN	908	G	R	Disease	Yao syndrome (YAOS) [MIM:617321]
Q9HC29	NOD2_HUMAN	507	P	S	Disease	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	703	R	C	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	469	L	F	Disease	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	791	R	W	Polymorphism	-
Q9HC29	NOD2_HUMAN	853	N	S	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	291	D	N	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	605	T	P	Disease	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	81	L	V	Polymorphism	-
Q9HC29	NOD2_HUMAN	778	E	K	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	334	R	Q	Disease	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	441	E	K	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	334	R	W	Disease	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	612	A	V	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	612	A	T	Unclassified	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	713	R	C	Unclassified	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	189	T	M	Polymorphism	-
Q9HC29	NOD2_HUMAN	490	W	L	Unclassified	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	496	H	L	Disease	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	513	M	T	Disease	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	587	R	C	Unclassified	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	495	C	Y	Unclassified	Blau syndrome (BLAUS) [MIM:186580]
Q9HC29	NOD2_HUMAN	702	R	W	Disease	Inflammatory bowel disease 1 (IBD1) [MIM:266600]
Q9HC29	NOD2_HUMAN	670	N	K	Disease	Blau syndrome (BLAUS) [MIM:186580]
Q9HC35	EMAL4_HUMAN	978	S	L	Polymorphism	-
Q9HC35	EMAL4_HUMAN	398	K	R	Polymorphism	-
Q9HC35	EMAL4_HUMAN	382	I	V	Polymorphism	-
Q9HC35	EMAL4_HUMAN	283	K	E	Polymorphism	-
Q9HC36	MRM3_HUMAN	45	G	E	Polymorphism	-
Q9HC36	MRM3_HUMAN	326	E	Q	Polymorphism	-
Q9HC36	MRM3_HUMAN	8	A	S	Polymorphism	-
Q9HC36	MRM3_HUMAN	185	I	V	Polymorphism	-
Q9HC38	GLOD4_HUMAN	282	M	I	Polymorphism	-
Q9HC44	GPBL1_HUMAN	192	P	S	Polymorphism	-
Q9HC44	GPBL1_HUMAN	439	R	H	Polymorphism	-
Q9HC52	CBX8_HUMAN	317	G	V	Polymorphism	-
Q9HC57	WFDC1_HUMAN	217	K	R	Polymorphism	-
Q9HC57	WFDC1_HUMAN	196	L	V	Polymorphism	-
Q9HC57	WFDC1_HUMAN	138	V	M	Unclassified	A breast cancer sample
Q9HC58	NCKX3_HUMAN	271	G	S	Polymorphism	-
Q9HC58	NCKX3_HUMAN	168	V	I	Polymorphism	-
Q9HC58	NCKX3_HUMAN	55	V	I	Polymorphism	-
Q9HC58	NCKX3_HUMAN	49	L	P	Polymorphism	-
Q9HC62	SENP2_HUMAN	301	T	K	Polymorphism	-
Q9HC77	CENPJ_HUMAN	55	P	A	Polymorphism	-
Q9HC77	CENPJ_HUMAN	85	P	T	Polymorphism	-
Q9HC77	CENPJ_HUMAN	879	S	A	Polymorphism	-
Q9HC77	CENPJ_HUMAN	1235	E	V	Disease	Microcephaly 6, primary, autosomal recessive (MCPH6) [MIM:608393]
Q9HC77	CENPJ_HUMAN	63	D	H	Polymorphism	-
Q9HC77	CENPJ_HUMAN	21	M	V	Polymorphism	-
Q9HC77	CENPJ_HUMAN	151	E	G	Polymorphism	-
Q9HC78	ZBT20_HUMAN	590	K	Q	Disease	Primrose syndrome (PRIMS) [MIM:259050]
Q9HC78	ZBT20_HUMAN	621	L	F	Disease	Primrose syndrome (PRIMS) [MIM:259050]
Q9HC78	ZBT20_HUMAN	596	H	R	Disease	Primrose syndrome (PRIMS) [MIM:259050]
Q9HC78	ZBT20_HUMAN	602	G	A	Disease	Primrose syndrome (PRIMS) [MIM:259050]
Q9HC84	MUC5B_HUMAN	1805	G	S	Polymorphism	-
Q9HC84	MUC5B_HUMAN	1401	R	H	Polymorphism	-
Q9HC84	MUC5B_HUMAN	4882	T	A	Polymorphism	-
Q9HC84	MUC5B_HUMAN	1889	P	L	Polymorphism	-
Q9HC84	MUC5B_HUMAN	2027	A	T	Polymorphism	-
Q9HC84	MUC5B_HUMAN	34	E	G	Polymorphism	-
Q9HC84	MUC5B_HUMAN	4706	T	P	Polymorphism	-
Q9HC84	MUC5B_HUMAN	2559	T	M	Polymorphism	-
Q9HC84	MUC5B_HUMAN	1360	T	M	Polymorphism	-
Q9HC84	MUC5B_HUMAN	51	R	W	Polymorphism	-
Q9HC84	MUC5B_HUMAN	4440	P	L	Polymorphism	-
Q9HC84	MUC5B_HUMAN	5196	S	T	Polymorphism	-
Q9HC84	MUC5B_HUMAN	3468	R	P	Polymorphism	-
Q9HC84	MUC5B_HUMAN	2425	M	T	Polymorphism	-
Q9HC84	MUC5B_HUMAN	3816	T	M	Polymorphism	-
Q9HC84	MUC5B_HUMAN	2238	L	P	Polymorphism	-
Q9HC84	MUC5B_HUMAN	3284	T	A	Polymorphism	-
Q9HC84	MUC5B_HUMAN	2194	M	T	Polymorphism	-
Q9HC84	MUC5B_HUMAN	2025	A	T	Polymorphism	-
Q9HC84	MUC5B_HUMAN	4712	T	M	Polymorphism	-
Q9HC84	MUC5B_HUMAN	4867	A	T	Polymorphism	-
Q9HC84	MUC5B_HUMAN	3072	F	S	Polymorphism	-
Q9HC84	MUC5B_HUMAN	4404	A	G	Polymorphism	-
Q9HC96	CAN10_HUMAN	276	E	G	Unclassified	A colorectal cancer sample
Q9HC96	CAN10_HUMAN	202	R	H	Polymorphism	-
Q9HC96	CAN10_HUMAN	504	T	A	Polymorphism	-
Q9HC96	CAN10_HUMAN	341	A	V	Polymorphism	-
Q9HC96	CAN10_HUMAN	200	P	T	Polymorphism	-
Q9HC96	CAN10_HUMAN	613	S	N	Polymorphism	-
Q9HC96	CAN10_HUMAN	529	A	S	Polymorphism	-
Q9HC96	CAN10_HUMAN	666	I	V	Polymorphism	-
Q9HC97	GPR35_HUMAN	76	V	M	Polymorphism	-
Q9HC97	GPR35_HUMAN	108	T	M	Polymorphism	-
Q9HC97	GPR35_HUMAN	29	V	I	Polymorphism	-
Q9HC97	GPR35_HUMAN	294	S	R	Polymorphism	-
Q9HC97	GPR35_HUMAN	25	A	T	Polymorphism	-
Q9HC97	GPR35_HUMAN	125	R	S	Polymorphism	-
Q9HC97	GPR35_HUMAN	253	T	M	Polymorphism	-
Q9HCC0	MCCB_HUMAN	99	E	Q	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	190	H	Y	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	352	G	R	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	169	Y	D	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	339	V	M	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	220	G	E	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	152	K	T	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	218	A	T	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	193	R	C	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	475	G	R	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	155	R	Q	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	190	H	R	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	39	S	F	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	280	D	Y	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	167	C	R	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	340	D	V	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	173	S	L	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	268	R	T	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	523	S	G	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	224	P	L	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	441	I	T	Unclassified	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	355	L	F	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	477	Q	R	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	319	G	R	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	310	P	R	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	520	Y	S	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	375	V	F	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	139	T	I	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	318	Y	C	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	193	R	H	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	555	K	E	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	456	A	V	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	461	F	V	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	478	A	G	Polymorphism	-
Q9HCC0	MCCB_HUMAN	403	N	T	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	163	N	D	Unclassified	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	266	H	L	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	216	C	W	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	237	G	D	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	155	R	W	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	68	G	V	Unclassified	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	282	H	R	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	393	Q	P	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	517	G	R	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	214	G	A	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	218	A	V	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	146	Y	N	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	200	I	N	Unclassified	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	524	A	T	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	437	I	V	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	410	G	R	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	459	P	S	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	101	S	F	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	230	N	D	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	105	G	R	Unclassified	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	131	C	F	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	387	F	V	Unclassified	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	434	V	L	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC0	MCCB_HUMAN	410	G	D	Disease	3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
Q9HCC9	LST2_HUMAN	603	S	N	Polymorphism	-
Q9HCC9	LST2_HUMAN	672	S	P	Polymorphism	-
Q9HCD5	NCOA5_HUMAN	326	E	G	Polymorphism	-
Q9HCD6	TANC2_HUMAN	760	R	C	Polymorphism	-
Q9HCD6	TANC2_HUMAN	1280	G	V	Unclassified	-
Q9HCE0	EPG5_HUMAN	1058	V	A	Polymorphism	-
Q9HCE0	EPG5_HUMAN	2038	C	R	Unclassified	Vici syndrome (VICIS) [MIM:242840]
Q9HCE0	EPG5_HUMAN	784	Q	P	Unclassified	Vici syndrome (VICIS) [MIM:242840]
Q9HCE0	EPG5_HUMAN	844	E	D	Polymorphism	-
Q9HCE0	EPG5_HUMAN	2414	E	K	Unclassified	Vici syndrome (VICIS) [MIM:242840]
Q9HCE0	EPG5_HUMAN	1336	G	E	Unclassified	Vici syndrome (VICIS) [MIM:242840]
Q9HCE0	EPG5_HUMAN	457	L	P	Unclassified	Vici syndrome (VICIS) [MIM:242840]
Q9HCE0	EPG5_HUMAN	1864	S	N	Polymorphism	-
Q9HCE0	EPG5_HUMAN	182	K	E	Polymorphism	-
Q9HCE0	EPG5_HUMAN	2056	R	W	Unclassified	A breast cancer sample
Q9HCE0	EPG5_HUMAN	336	Q	R	Disease	Vici syndrome (VICIS) [MIM:242840]
Q9HCE0	EPG5_HUMAN	1985	R	Q	Polymorphism	-
Q9HCE0	EPG5_HUMAN	2092	L	P	Unclassified	Vici syndrome (VICIS) [MIM:242840]
Q9HCE0	EPG5_HUMAN	1511	A	V	Polymorphism	-
Q9HCE0	EPG5_HUMAN	1827	P	A	Disease	Vici syndrome (VICIS) [MIM:242840]
Q9HCE0	EPG5_HUMAN	1131	I	V	Polymorphism	-
Q9HCE0	EPG5_HUMAN	1865	C	Y	Unclassified	A breast cancer sample
Q9HCE0	EPG5_HUMAN	1511	A	T	Unclassified	A breast cancer sample
Q9HCE3	ZN532_HUMAN	822	S	L	Unclassified	A breast cancer sample
Q9HCE3	ZN532_HUMAN	761	E	D	Polymorphism	-
Q9HCE6	ARGAL_HUMAN	47	S	N	Polymorphism	-
Q9HCE6	ARGAL_HUMAN	991	R	W	Polymorphism	-
Q9HCE6	ARGAL_HUMAN	69	D	N	Polymorphism	-
Q9HCE6	ARGAL_HUMAN	1219	I	V	Polymorphism	-
Q9HCE6	ARGAL_HUMAN	96	A	V	Unclassified	A colorectal cancer sample
Q9HCE7	SMUF1_HUMAN	466	S	Y	Polymorphism	-
Q9HCF6	TRPM3_HUMAN	1732	N	T	Polymorphism	-
Q9HCF6	TRPM3_HUMAN	1695	R	Q	Polymorphism	-
Q9HCF6	TRPM3_HUMAN	1653	T	I	Polymorphism	-
Q9HCF6	TRPM3_HUMAN	1717	R	K	Polymorphism	-
Q9HCG1	ZN160_HUMAN	82	P	R	Polymorphism	-
Q9HCG1	ZN160_HUMAN	7	R	Q	Polymorphism	-
Q9HCG7	GBA2_HUMAN	630	R	W	Disease	Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]
Q9HCG7	GBA2_HUMAN	873	R	H	Disease	Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]
Q9HCG7	GBA2_HUMAN	594	D	H	Disease	Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]
Q9HCG8	CWC22_HUMAN	741	D	V	Polymorphism	-
Q9HCG8	CWC22_HUMAN	794	R	Q	Polymorphism	-
Q9HCG8	CWC22_HUMAN	656	A	V	Polymorphism	-
Q9HCH3	CPNE5_HUMAN	33	N	S	Polymorphism	-
Q9HCH3	CPNE5_HUMAN	582	R	H	Polymorphism	-
Q9HCI5	MAGE1_HUMAN	339	E	D	Polymorphism	-
Q9HCI5	MAGE1_HUMAN	305	S	C	Polymorphism	-
Q9HCI5	MAGE1_HUMAN	640	Y	F	Unclassified	A breast cancer sample
Q9HCI5	MAGE1_HUMAN	664	T	N	Unclassified	A breast cancer sample
Q9HCI6	K1586_HUMAN	81	V	M	Polymorphism	-
Q9HCI6	K1586_HUMAN	75	F	L	Polymorphism	-
Q9HCJ0	TNR6C_HUMAN	820	P	R	Polymorphism	-
Q9HCJ1	ANKH_HUMAN	5	P	T	Disease	Chondrocalcinosis 2 (CCAL2) [MIM:118600]
Q9HCJ1	ANKH_HUMAN	331	C	R	Disease	Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]
Q9HCJ1	ANKH_HUMAN	48	M	T	Disease	Chondrocalcinosis 2 (CCAL2) [MIM:118600]
Q9HCJ1	ANKH_HUMAN	5	P	L	Disease	Chondrocalcinosis 2 (CCAL2) [MIM:118600]
Q9HCJ1	ANKH_HUMAN	389	G	R	Disease	Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]
Q9HCJ1	ANKH_HUMAN	292	W	R	Disease	Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]
Q9HCJ5	ZSWM6_HUMAN	763	S	R	Polymorphism	-
Q9HCJ5	ZSWM6_HUMAN	1163	R	W	Disease	Acromelic frontonasal dysostosis (AFND) [MIM:603671]
Q9HCK0	ZBT26_HUMAN	236	H	R	Polymorphism	-
Q9HCK1	ZDBF2_HUMAN	160	R	K	Polymorphism	-
Q9HCK4	ROBO2_HUMAN	1236	A	T	Disease	Vesicoureteral reflux 2 (VUR2) [MIM:610878]
Q9HCK4	ROBO2_HUMAN	945	I	T	Disease	Vesicoureteral reflux 2 (VUR2) [MIM:610878]
Q9HCK8	CHD8_HUMAN	744	V	I	Unclassified	Autism 18 (AUTS18) [MIM:615032]
Q9HCL2	GPAT1_HUMAN	43	I	V	Polymorphism	-
Q9HCL2	GPAT1_HUMAN	386	I	T	Polymorphism	-
Q9HCL2	GPAT1_HUMAN	4	S	Y	Polymorphism	-
Q9HCL2	GPAT1_HUMAN	131	E	G	Polymorphism	-
Q9HCM1	RESF1_HUMAN	352	S	G	Polymorphism	-
Q9HCM1	RESF1_HUMAN	106	H	Q	Polymorphism	-
Q9HCM1	RESF1_HUMAN	202	I	V	Polymorphism	-
Q9HCM1	RESF1_HUMAN	250	L	P	Polymorphism	-
Q9HCM1	RESF1_HUMAN	59	I	V	Polymorphism	-
Q9HCM1	RESF1_HUMAN	518	S	P	Polymorphism	-
Q9HCM1	RESF1_HUMAN	433	S	T	Polymorphism	-
Q9HCM1	RESF1_HUMAN	1226	V	I	Polymorphism	-
Q9HCM1	RESF1_HUMAN	1208	S	C	Polymorphism	-
Q9HCM1	RESF1_HUMAN	954	F	S	Polymorphism	-
Q9HCM1	RESF1_HUMAN	346	S	N	Polymorphism	-
Q9HCM1	RESF1_HUMAN	1479	M	T	Polymorphism	-
Q9HCM1	RESF1_HUMAN	1338	T	A	Polymorphism	-
Q9HCM1	RESF1_HUMAN	309	R	Q	Polymorphism	-
Q9HCM1	RESF1_HUMAN	147	P	S	Polymorphism	-
Q9HCM1	RESF1_HUMAN	1010	T	K	Polymorphism	-
Q9HCM3	K1549_HUMAN	851	V	G	Polymorphism	-
Q9HCM3	K1549_HUMAN	652	P	L	Polymorphism	-
Q9HCM3	K1549_HUMAN	448	A	P	Polymorphism	-
Q9HCM4	E41L5_HUMAN	462	A	T	Polymorphism	-
Q9HCM4	E41L5_HUMAN	334	H	Y	Polymorphism	-
Q9HCM7	FBSL_HUMAN	367	L	P	Polymorphism	-
Q9HCN2	TPIP1_HUMAN	7	A	V	Polymorphism	-
Q9HCN3	TMM8A_HUMAN	567	R	W	Polymorphism	-
Q9HCN3	TMM8A_HUMAN	136	T	A	Polymorphism	-
Q9HCN3	TMM8A_HUMAN	310	I	V	Polymorphism	-
Q9HCN6	GPVI_HUMAN	249	A	T	Polymorphism	-
Q9HCN6	GPVI_HUMAN	219	P	S	Polymorphism	-
Q9HCN6	GPVI_HUMAN	335	R	G	Polymorphism	-
Q9HCN6	GPVI_HUMAN	175	S	N	Disease	Bleeding disorder, platelet-type 11 (BDPLT11) [MIM:614201]
Q9HCN6	GPVI_HUMAN	322	N	H	Polymorphism	-
Q9HCN6	GPVI_HUMAN	317	L	Q	Polymorphism	-
Q9HCN6	GPVI_HUMAN	58	R	C	Disease	Bleeding disorder, platelet-type 11 (BDPLT11) [MIM:614201]
Q9HCN6	GPVI_HUMAN	237	E	K	Polymorphism	-
Q9HCP0	KC1G1_HUMAN	329	V	I	Polymorphism	-
Q9HCP0	KC1G1_HUMAN	206	R	K	Polymorphism	-
Q9HCP0	KC1G1_HUMAN	230	R	W	Disease	-
Q9HCP6	HHATL_HUMAN	403	M	V	Polymorphism	-
Q9HCQ7	NPVF_HUMAN	42	D	G	Polymorphism	-
Q9HCQ7	NPVF_HUMAN	32	I	M	Polymorphism	-
Q9HCQ7	NPVF_HUMAN	121	V	M	Polymorphism	-
Q9HCR9	PDE11_HUMAN	804	R	H	Polymorphism	-
Q9HCR9	PDE11_HUMAN	867	R	G	Polymorphism	-
Q9HCS2	CP4FC_HUMAN	76	N	D	Polymorphism	-
Q9HCS2	CP4FC_HUMAN	522	S	G	Polymorphism	-
Q9HCS2	CP4FC_HUMAN	90	V	I	Polymorphism	-
Q9HCS2	CP4FC_HUMAN	13	P	L	Polymorphism	-
Q9HCS2	CP4FC_HUMAN	16	T	M	Polymorphism	-
Q9HCS2	CP4FC_HUMAN	188	R	C	Polymorphism	-
Q9HCS4	TF7L1_HUMAN	147	T	N	Unclassified	A breast cancer sample
Q9HCS4	TF7L1_HUMAN	533	G	R	Polymorphism	-
Q9HCS5	E41LA_HUMAN	132	V	I	Polymorphism	-
Q9HCS7	SYF1_HUMAN	702	A	T	Polymorphism	-
Q9HCS7	SYF1_HUMAN	454	R	Q	Polymorphism	-
Q9HCS7	SYF1_HUMAN	126	V	I	Polymorphism	-
Q9HCU0	CD248_HUMAN	6	L	F	Unclassified	A colorectal cancer sample
Q9HCU0	CD248_HUMAN	457	H	R	Polymorphism	-
Q9HCU4	CELR2_HUMAN	1639	Y	H	Polymorphism	-
Q9HCU4	CELR2_HUMAN	1066	R	Q	Polymorphism	-
Q9HCU4	CELR2_HUMAN	1992	G	R	Polymorphism	-
Q9HCU4	CELR2_HUMAN	2387	T	A	Polymorphism	-
Q9HCU8	DPOD4_HUMAN	39	R	P	Polymorphism	-
Q9HCU8	DPOD4_HUMAN	59	G	R	Polymorphism	-
Q9HCX3	ZN304_HUMAN	121	L	P	Polymorphism	-
Q9HCX3	ZN304_HUMAN	367	K	E	Polymorphism	-
Q9HCZ1	ZN334_HUMAN	547	N	S	Polymorphism	-
Q9HD15	SRA1_HUMAN	32	Q	E	Polymorphism	-
Q9HD23	MRS2_HUMAN	35	P	S	Polymorphism	-
Q9HD23	MRS2_HUMAN	412	P	S	Polymorphism	-
Q9HD33	RM47_HUMAN	10	C	G	Polymorphism	-
Q9HD33	RM47_HUMAN	213	R	H	Polymorphism	-
Q9HD34	LYRM4_HUMAN	11	S	A	Polymorphism	-
Q9HD34	LYRM4_HUMAN	68	R	L	Disease	Combined oxidative phosphorylation deficiency 19 (COXPD19) [MIM:615595]
Q9HD36	B2L10_HUMAN	21	L	R	Polymorphism	-
Q9HD40	SPCS_HUMAN	239	A	T	Disease	Pontocerebellar hypoplasia 2D (PCH2D) [MIM:613811]
Q9HD40	SPCS_HUMAN	325	T	S	Disease	Pontocerebellar hypoplasia 2D (PCH2D) [MIM:613811]
Q9HD40	SPCS_HUMAN	334	Y	C	Disease	Pontocerebellar hypoplasia 2D (PCH2D) [MIM:613811]
Q9HD43	PTPRH_HUMAN	232	D	N	Polymorphism	-
Q9HD43	PTPRH_HUMAN	823	E	K	Polymorphism	-
Q9HD43	PTPRH_HUMAN	831	G	D	Polymorphism	-
Q9HD43	PTPRH_HUMAN	348	H	Y	Polymorphism	-
Q9HD43	PTPRH_HUMAN	1076	I	V	Polymorphism	-
Q9HD43	PTPRH_HUMAN	243	V	I	Polymorphism	-
Q9HD43	PTPRH_HUMAN	781	K	N	Polymorphism	-
Q9HD43	PTPRH_HUMAN	543	L	F	Polymorphism	-
Q9HD47	MOG1_HUMAN	83	E	D	Unclassified	-
Q9HD67	MYO10_HUMAN	700	R	Q	Polymorphism	-
Q9HD67	MYO10_HUMAN	324	R	W	Polymorphism	-
Q9HD67	MYO10_HUMAN	148	H	Y	Polymorphism	-
Q9HD67	MYO10_HUMAN	273	E	D	Polymorphism	-
Q9HD67	MYO10_HUMAN	1663	S	T	Polymorphism	-
Q9HD67	MYO10_HUMAN	32	V	I	Polymorphism	-
Q9HD90	NDF4_HUMAN	68	K	T	Polymorphism	-
Q9HDC5	JPH1_HUMAN	624	D	H	Polymorphism	-
Q9HDC5	JPH1_HUMAN	507	T	M	Polymorphism	-
Q9HDC9	APMAP_HUMAN	374	R	W	Polymorphism	-
Q9HDC9	APMAP_HUMAN	65	I	V	Polymorphism	-
Q9HDC9	APMAP_HUMAN	282	R	Q	Polymorphism	-
Q9N2K0	ENH1_HUMAN	150	F	L	Polymorphism	-
Q9N2K0	ENH1_HUMAN	81	V	L	Polymorphism	-
Q9NNW7	TRXR2_HUMAN	370	I	T	Polymorphism	-
Q9NNW7	TRXR2_HUMAN	14	R	L	Polymorphism	-
Q9NNW7	TRXR2_HUMAN	299	S	R	Polymorphism	-
Q9NNW7	TRXR2_HUMAN	66	A	S	Polymorphism	-
Q9NNX1	TUFT1_HUMAN	18	Q	R	Polymorphism	-
Q9NNX1	TUFT1_HUMAN	296	K	R	Polymorphism	-
Q9NNX6	CD209_HUMAN	242	L	V	Polymorphism	-
Q9NNX6	CD209_HUMAN	214	E	D	Polymorphism	-
Q9NNX6	CD209_HUMAN	382	A	S	Polymorphism	-
Q9NNX6	CD209_HUMAN	168	E	D	Polymorphism	-
Q9NNZ6	PRM3_HUMAN	100	Q	R	Polymorphism	-
Q9NP31	SH22A_HUMAN	272	R	C	Polymorphism	-
Q9NP31	SH22A_HUMAN	52	N	S	Polymorphism	-
Q9NP50	SHCAF_HUMAN	117	R	H	Polymorphism	-
Q9NP58	ABCB6_HUMAN	811	L	V	Disease	Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]
Q9NP58	ABCB6_HUMAN	648	R	Q	Polymorphism	-
Q9NP58	ABCB6_HUMAN	170	S	G	Disease	Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
Q9NP58	ABCB6_HUMAN	723	R	Q	Disease	Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
Q9NP58	ABCB6_HUMAN	555	Q	K	Disease	Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
Q9NP58	ABCB6_HUMAN	69	R	G	Unclassified	A breast cancer sample
Q9NP58	ABCB6_HUMAN	424	Y	H	Disease	Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
Q9NP58	ABCB6_HUMAN	375	R	Q	Disease	Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
Q9NP58	ABCB6_HUMAN	343	R	Q	Polymorphism	-
Q9NP58	ABCB6_HUMAN	293	L	V	Polymorphism	-
Q9NP58	ABCB6_HUMAN	322	S	R	Disease	Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
Q9NP58	ABCB6_HUMAN	356	L	P	Disease	Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
Q9NP58	ABCB6_HUMAN	57	A	T	Unclassified	Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]
Q9NP58	ABCB6_HUMAN	375	R	W	Disease	Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
Q9NP58	ABCB6_HUMAN	453	A	V	Disease	Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
Q9NP58	ABCB6_HUMAN	579	G	E	Disease	Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
Q9NP59	S40A1_HUMAN	270	D	V	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP59	S40A1_HUMAN	248	Q	H	Polymorphism	-
Q9NP59	S40A1_HUMAN	267	G	D	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP59	S40A1_HUMAN	490	G	D	Polymorphism	-
Q9NP59	S40A1_HUMAN	181	D	V	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP59	S40A1_HUMAN	77	A	D	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP59	S40A1_HUMAN	561	R	G	Polymorphism	-
Q9NP59	S40A1_HUMAN	64	Y	N	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP59	S40A1_HUMAN	80	G	S	Polymorphism	-
Q9NP59	S40A1_HUMAN	443	P	L	Polymorphism	-
Q9NP59	S40A1_HUMAN	182	Q	H	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP59	S40A1_HUMAN	326	C	Y	Unclassified	-
Q9NP59	S40A1_HUMAN	174	N	I	Polymorphism	-
Q9NP59	S40A1_HUMAN	157	D	G	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP59	S40A1_HUMAN	432	M	V	Polymorphism	-
Q9NP59	S40A1_HUMAN	144	N	T	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP59	S40A1_HUMAN	144	N	H	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP59	S40A1_HUMAN	323	G	V	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP59	S40A1_HUMAN	80	G	V	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP59	S40A1_HUMAN	144	N	D	Disease	Hemochromatosis 4 (HFE4) [MIM:606069]
Q9NP60	IRPL2_HUMAN	606	F	L	Unclassified	A breast cancer sample
Q9NP61	ARFG3_HUMAN	290	E	G	Unclassified	A breast cancer sample
Q9NP61	ARFG3_HUMAN	231	S	G	Polymorphism	-
Q9NP61	ARFG3_HUMAN	355	S	R	Polymorphism	-
Q9NP61	ARFG3_HUMAN	482	A	T	Polymorphism	-
Q9NP61	ARFG3_HUMAN	468	Q	H	Polymorphism	-
Q9NP61	ARFG3_HUMAN	490	Q	R	Polymorphism	-
Q9NP61	ARFG3_HUMAN	370	S	G	Polymorphism	-
Q9NP70	AMBN_HUMAN	11	M	T	Unclassified	-
Q9NP70	AMBN_HUMAN	439	H	R	Polymorphism	-
Q9NP70	AMBN_HUMAN	354	L	P	Polymorphism	-
Q9NP70	AMBN_HUMAN	255	A	V	Polymorphism	-
Q9NP71	MLXPL_HUMAN	244	D	E	Polymorphism	-
Q9NP71	MLXPL_HUMAN	241	Q	H	Polymorphism	-
Q9NP72	RAB18_HUMAN	24	L	Q	Disease	Warburg micro syndrome 3 (WARBM3) [MIM:614222]
Q9NP72	RAB18_HUMAN	198	A	T	Polymorphism	-
Q9NP72	RAB18_HUMAN	113	N	S	Polymorphism	-
Q9NP73	ALG13_HUMAN	107	N	S	Disease	Epileptic encephalopathy, early infantile, 36 (EIEE36) [MIM:300884]
Q9NP73	ALG13_HUMAN	94	K	E	Disease	Epileptic encephalopathy, early infantile, 36 (EIEE36) [MIM:300884]
Q9NP74	PALMD_HUMAN	229	N	S	Polymorphism	-
Q9NP74	PALMD_HUMAN	73	H	Q	Polymorphism	-
Q9NP74	PALMD_HUMAN	459	E	D	Polymorphism	-
Q9NP78	ABCB9_HUMAN	121	V	M	Polymorphism	-
Q9NP79	VTA1_HUMAN	239	I	M	Polymorphism	-
Q9NP81	SYSM_HUMAN	83	S	L	Polymorphism	-
Q9NP81	SYSM_HUMAN	35	T	A	Polymorphism	-
Q9NP81	SYSM_HUMAN	390	D	G	Disease	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome (HUPRAS) [MIM:613845]
Q9NP85	PODO_HUMAN	107	L	P	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	122	W	S	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	168	R	H	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	237	E	Q	Polymorphism	-
Q9NP85	PODO_HUMAN	187	M	I	Unclassified	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	183	D	Y	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	175	P	V	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	260	V	E	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	238	R	S	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	97	G	S	Unclassified	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	118	P	L	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	168	R	S	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	29	A	T	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	229	R	Q	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	291	R	W	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	290	V	M	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	296	E	K	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	264	E	Q	Polymorphism	-
Q9NP85	PODO_HUMAN	309	A	V	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	208	A	T	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	92	G	C	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	160	D	G	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	34	G	E	Polymorphism	-
Q9NP85	PODO_HUMAN	221	T	I	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	168	R	C	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	281	E	K	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	333	E	G	Unclassified	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	211	S	A	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	281	E	A	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	116	T	P	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	18	R	T	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	192	I	V	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	126	K	N	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	180	V	M	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	242	A	V	Polymorphism	-
Q9NP85	PODO_HUMAN	61	A	V	Polymorphism	-
Q9NP85	PODO_HUMAN	20	P	L	Polymorphism	-
Q9NP85	PODO_HUMAN	138	R	Q	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	172	L	V	Unclassified	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	142	L	P	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	328	Q	R	Unclassified	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	228	H	D	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	30	E	Q	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	3	R	G	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	284	A	V	Unclassified	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	229	R	L	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	315	T	I	Unclassified	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	213	A	T	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	39	Q	L	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	44	E	A	Polymorphism	-
Q9NP85	PODO_HUMAN	267	D	N	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	122	W	L	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	297	A	V	Polymorphism	-
Q9NP85	PODO_HUMAN	322	R	Q	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	341	P	S	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	218	V	G	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	89	P	T	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	276	H	L	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	28	K	M	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	124	C	W	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	310	E	V	Unclassified	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	370	V	G	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	268	V	L	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	139	L	R	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	310	E	K	Unclassified	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	30	E	K	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	115	M	T	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP85	PODO_HUMAN	26	R	M	Disease	Nephrotic syndrome 2 (NPHS2) [MIM:600995]
Q9NP86	CABP5_HUMAN	128	V	A	Polymorphism	-
Q9NP86	CABP5_HUMAN	147	I	S	Polymorphism	-
Q9NP86	CABP5_HUMAN	65	T	R	Polymorphism	-
Q9NP86	CABP5_HUMAN	140	E	K	Polymorphism	-
Q9NP86	CABP5_HUMAN	80	L	P	Polymorphism	-
Q9NP87	DPOLM_HUMAN	246	V	F	Polymorphism	-
Q9NP87	DPOLM_HUMAN	107	E	D	Polymorphism	-
Q9NP87	DPOLM_HUMAN	220	G	A	Polymorphism	-
Q9NP87	DPOLM_HUMAN	484	L	F	Polymorphism	-
Q9NP91	S6A20_HUMAN	9	A	G	Polymorphism	-
Q9NP91	S6A20_HUMAN	199	T	M	Polymorphism	-
Q9NP92	RT30_HUMAN	102	A	V	Polymorphism	-
Q9NP92	RT30_HUMAN	33	C	S	Polymorphism	-
Q9NP94	S39A2_HUMAN	154	H	Y	Polymorphism	-
Q9NP94	S39A2_HUMAN	129	G	E	Polymorphism	-
Q9NP94	S39A2_HUMAN	115	F	L	Polymorphism	-
Q9NP94	S39A2_HUMAN	48	L	P	Polymorphism	-
Q9NP94	S39A2_HUMAN	80	M	V	Polymorphism	-
Q9NP95	FGF20_HUMAN	175	P	A	Polymorphism	-
Q9NP95	FGF20_HUMAN	206	D	N	Polymorphism	-
Q9NP95	FGF20_HUMAN	116	G	R	Polymorphism	-
Q9NP97	DLRB1_HUMAN	71	I	F	Polymorphism	-
Q9NP97	DLRB1_HUMAN	13	S	R	Polymorphism	-
Q9NP99	TREM1_HUMAN	135	K	T	Polymorphism	-
Q9NP99	TREM1_HUMAN	97	R	S	Unclassified	A breast cancer sample
Q9NP99	TREM1_HUMAN	25	T	S	Polymorphism	-
Q9NP99	TREM1_HUMAN	214	F	L	Polymorphism	-
Q9NPA1	KCMB3_HUMAN	165	N	S	Polymorphism	-
Q9NPA1	KCMB3_HUMAN	75	L	V	Polymorphism	-
Q9NPA1	KCMB3_HUMAN	53	A	T	Polymorphism	-
Q9NPA1	KCMB3_HUMAN	230	M	T	Polymorphism	-
Q9NPA1	KCMB3_HUMAN	44	D	G	Polymorphism	-
Q9NPB3	CABP2_HUMAN	94	R	Q	Polymorphism	-
Q9NPB6	PAR6A_HUMAN	286	V	I	Polymorphism	-
Q9NPB8	GPCP1_HUMAN	273	T	I	Polymorphism	-
Q9NPC2	KCNK9_HUMAN	236	G	R	Disease	Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292]
Q9NPC4	A4GAT_HUMAN	187	G	D	Polymorphism	-
Q9NPC4	A4GAT_HUMAN	183	M	K	Polymorphism	-
Q9NPC4	A4GAT_HUMAN	37	M	V	Polymorphism	-
Q9NPC4	A4GAT_HUMAN	163	Q	R	Polymorphism	-
Q9NPC4	A4GAT_HUMAN	251	P	L	Polymorphism	-
Q9NPC4	A4GAT_HUMAN	211	Q	E	Polymorphism	-
Q9NPC6	MYOZ2_HUMAN	246	I	M	Disease	Cardiomyopathy, familial hypertrophic 16 (CMH16) [MIM:613838]
Q9NPC6	MYOZ2_HUMAN	48	S	P	Disease	Cardiomyopathy, familial hypertrophic 16 (CMH16) [MIM:613838]
Q9NPC8	SIX2_HUMAN	241	P	L	Polymorphism	-
Q9NPC8	SIX2_HUMAN	43	L	F	Polymorphism	-
Q9NPC8	SIX2_HUMAN	276	D	N	Polymorphism	-
Q9NPD5	SO1B3_HUMAN	256	G	A	Polymorphism	-
Q9NPD5	SO1B3_HUMAN	647	M	L	Unclassified	A colorectal cancer sample
Q9NPD5	SO1B3_HUMAN	560	V	A	Polymorphism	-
Q9NPD5	SO1B3_HUMAN	233	M	I	Polymorphism	-
Q9NPD5	SO1B3_HUMAN	112	S	A	Polymorphism	-
Q9NPD5	SO1B3_HUMAN	292	I	M	Unclassified	A colorectal cancer sample
Q9NPD8	UBE2T_HUMAN	2	Q	E	Disease	Fanconi anemia complementation group T (FANCT) [MIM:616435]
Q9NPE2	NGRN_HUMAN	174	L	F	Polymorphism	-
Q9NPE2	NGRN_HUMAN	267	D	G	Polymorphism	-
Q9NPE3	NOP10_HUMAN	34	R	W	Disease	Dyskeratosis congenita, autosomal recessive, 1 (DKCB1) [MIM:224230]
Q9NPF0	CD320_HUMAN	142	S	G	Polymorphism	-
Q9NPF0	CD320_HUMAN	220	G	R	Polymorphism	-
Q9NPF0	CD320_HUMAN	8	Q	R	Polymorphism	-
Q9NPF4	OSGEP_HUMAN	280	R	H	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	280	R	L	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	139	I	T	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	107	V	M	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	247	R	Q	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	325	R	W	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	325	R	Q	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	78	K	E	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	110	C	R	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	280	R	C	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	198	K	R	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	14	I	F	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	177	G	A	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPF4	OSGEP_HUMAN	111	I	T	Disease	Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]
Q9NPG1	FZD3_HUMAN	4	T	S	Polymorphism	-
Q9NPG1	FZD3_HUMAN	545	I	V	Polymorphism	-
Q9NPG1	FZD3_HUMAN	199	L	M	Polymorphism	-
Q9NPG3	UBN1_HUMAN	435	Y	C	Polymorphism	-
Q9NPG4	PCD12_HUMAN	332	I	N	Unclassified	Microcephaly, seizures, spasticity, and brain calcifications (MISSBC) [MIM:251280]
Q9NPG4	PCD12_HUMAN	55	R	G	Polymorphism	-
Q9NPG4	PCD12_HUMAN	640	S	N	Polymorphism	-
Q9NPG4	PCD12_HUMAN	385	H	N	Polymorphism	-
Q9NPG4	PCD12_HUMAN	147	S	I	Unclassified	Microcephaly, seizures, spasticity, and brain calcifications (MISSBC) [MIM:251280]
Q9NPG4	PCD12_HUMAN	1091	G	S	Unclassified	Microcephaly, seizures, spasticity, and brain calcifications (MISSBC) [MIM:251280]
Q9NPG8	ZDHC4_HUMAN	53	V	M	Polymorphism	-
Q9NPG8	ZDHC4_HUMAN	104	P	S	Unclassified	A breast cancer sample
Q9NPH0	PPA6_HUMAN	316	M	V	Polymorphism	-
Q9NPH3	IL1AP_HUMAN	473	V	M	Polymorphism	-
Q9NPH5	NOX4_HUMAN	315	M	I	Polymorphism	-
Q9NPH6	OBP2B_HUMAN	167	V	I	Polymorphism	-
Q9NPI0	TM138_HUMAN	126	A	T	Disease	Joubert syndrome 16 (JBTS16) [MIM:614465]
Q9NPI0	TM138_HUMAN	96	H	R	Disease	Joubert syndrome 16 (JBTS16) [MIM:614465]
Q9NPI0	TM138_HUMAN	130	Y	C	Disease	Joubert syndrome 16 (JBTS16) [MIM:614465]
Q9NPI0	TM138_HUMAN	127	A	V	Disease	Joubert syndrome 16 (JBTS16) [MIM:614465]
Q9NPI5	NRK2_HUMAN	178	E	K	Polymorphism	-
Q9NPI8	FANCF_HUMAN	295	V	I	Polymorphism	-
Q9NPI8	FANCF_HUMAN	320	P	L	Polymorphism	-
Q9NPI9	KCJ16_HUMAN	11	I	V	Polymorphism	-
Q9NPJ1	MKKS_HUMAN	242	A	S	Unclassified	McKusick-Kaufman syndrome (MKKS) [MIM:236700]
Q9NPJ1	MKKS_HUMAN	532	G	V	Polymorphism	-
Q9NPJ1	MKKS_HUMAN	237	T	A	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	52	G	D	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	518	R	H	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	286	D	A	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	339	I	V	Polymorphism	-
Q9NPJ1	MKKS_HUMAN	517	R	C	Polymorphism	-
Q9NPJ1	MKKS_HUMAN	181	A	P	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	84	H	Y	Disease	McKusick-Kaufman syndrome (MKKS) [MIM:236700]
Q9NPJ1	MKKS_HUMAN	236	S	P	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	49	G	V	Polymorphism	-
Q9NPJ1	MKKS_HUMAN	242	A	S	Unclassified	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	155	R	L	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	395	H	R	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	37	Y	C	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	299	P	L	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	277	L	P	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	511	S	A	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	32	I	M	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	99	C	R	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	492	D	N	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	345	G	E	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	460	S	P	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	37	Y	C	Disease	McKusick-Kaufman syndrome (MKKS) [MIM:236700]
Q9NPJ1	MKKS_HUMAN	41	G	R	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	488	A	T	Polymorphism	-
Q9NPJ1	MKKS_HUMAN	237	T	P	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	57	T	A	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	499	C	S	Disease	Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
Q9NPJ1	MKKS_HUMAN	325	T	P	Polymorphism	-
Q9NPL8	TIDC1_HUMAN	217	V	I	Polymorphism	-
Q9NPL8	TIDC1_HUMAN	76	N	D	Polymorphism	-
Q9NPP4	NLRC4_HUMAN	443	H	P	Disease	Familial cold autoinflammatory syndrome 4 (FCAS4) [MIM:616115]
Q9NPP4	NLRC4_HUMAN	341	V	A	Disease	Autoinflammation with infantile enterocolitis (AIFEC) [MIM:616050]
Q9NPP4	NLRC4_HUMAN	337	T	S	Disease	Autoinflammation with infantile enterocolitis (AIFEC) [MIM:616050]
Q9NPR2	SEM4B_HUMAN	797	S	A	Polymorphism	-
Q9NPR9	GP108_HUMAN	79	L	P	Polymorphism	-
Q9NPR9	GP108_HUMAN	36	Q	R	Polymorphism	-
Q9NPY3	C1QR1_HUMAN	318	V	A	Polymorphism	-
Q9NPY3	C1QR1_HUMAN	220	A	V	Unclassified	A colorectal cancer sample
Q9NPY3	C1QR1_HUMAN	541	P	S	Polymorphism	-
Q9NQ11	AT132_HUMAN	1059	L	R	Disease	Kufor-Rakeb syndrome (KRS) [MIM:606693]
Q9NQ11	AT132_HUMAN	877	G	R	Disease	Kufor-Rakeb syndrome (KRS) [MIM:606693]
Q9NQ11	AT132_HUMAN	504	G	R	Disease	Kufor-Rakeb syndrome (KRS) [MIM:606693]
Q9NQ11	AT132_HUMAN	776	V	I	Polymorphism	-
Q9NQ11	AT132_HUMAN	946	I	F	Polymorphism	-
Q9NQ11	AT132_HUMAN	522	G	V	Unclassified	Kufor-Rakeb syndrome (KRS) [MIM:606693]
Q9NQ11	AT132_HUMAN	854	M	R	Disease	Kufor-Rakeb syndrome (KRS) [MIM:606693]
Q9NQ11	AT132_HUMAN	182	F	L	Disease	Kufor-Rakeb syndrome (KRS) [MIM:606693]
Q9NQ11	AT132_HUMAN	294	R	Q	Polymorphism	-
Q9NQ11	AT132_HUMAN	762	R	W	Polymorphism	-
Q9NQ11	AT132_HUMAN	389	P	L	Polymorphism	-
Q9NQ11	AT132_HUMAN	533	G	R	Disease	Kufor-Rakeb syndrome (KRS) [MIM:606693]
Q9NQ11	AT132_HUMAN	12	T	M	Disease	Kufor-Rakeb syndrome (KRS) [MIM:606693]
Q9NQ11	AT132_HUMAN	517	T	I	Disease	Spastic paraplegia 78, autosomal recessive (SPG78) [MIM:617225]
Q9NQ11	AT132_HUMAN	578	V	G	Polymorphism	-
Q9NQ11	AT132_HUMAN	49	G	S	Polymorphism	-
Q9NQ11	AT132_HUMAN	746	A	T	Disease	Kufor-Rakeb syndrome (KRS) [MIM:606693]
Q9NQ25	SLAF7_HUMAN	175	H	Y	Polymorphism	-
Q9NQ25	SLAF7_HUMAN	302	T	M	Polymorphism	-
Q9NQ31	AKIP1_HUMAN	132	I	T	Polymorphism	-
Q9NQ31	AKIP1_HUMAN	23	R	K	Polymorphism	-
Q9NQ32	CK016_HUMAN	210	V	L	Polymorphism	-
Q9NQ32	CK016_HUMAN	144	P	L	Polymorphism	-
Q9NQ33	ASCL3_HUMAN	54	R	L	Polymorphism	-
Q9NQ36	SCUB2_HUMAN	843	P	R	Polymorphism	-
Q9NQ36	SCUB2_HUMAN	752	V	G	Polymorphism	-
Q9NQ36	SCUB2_HUMAN	791	T	S	Polymorphism	-
Q9NQ36	SCUB2_HUMAN	591	T	M	Polymorphism	-
Q9NQ36	SCUB2_HUMAN	712	Q	H	Polymorphism	-
Q9NQ38	ISK5_HUMAN	368	S	N	Polymorphism	-
Q9NQ38	ISK5_HUMAN	267	Q	R	Polymorphism	-
Q9NQ38	ISK5_HUMAN	972	H	R	Polymorphism	-
Q9NQ38	ISK5_HUMAN	969	K	E	Polymorphism	-
Q9NQ38	ISK5_HUMAN	395	V	M	Polymorphism	-
Q9NQ38	ISK5_HUMAN	588	I	M	Polymorphism	-
Q9NQ38	ISK5_HUMAN	386	D	N	Polymorphism	-
Q9NQ38	ISK5_HUMAN	420	K	E	Polymorphism	-
Q9NQ38	ISK5_HUMAN	711	R	Q	Polymorphism	-
Q9NQ38	ISK5_HUMAN	335	A	V	Polymorphism	-
Q9NQ38	ISK5_HUMAN	441	R	H	Polymorphism	-
Q9NQ38	ISK5_HUMAN	825	E	D	Polymorphism	-
Q9NQ38	ISK5_HUMAN	887	S	R	Polymorphism	-
Q9NQ40	S52A3_HUMAN	267	P	L	Polymorphism	-
Q9NQ40	S52A3_HUMAN	303	I	V	Polymorphism	-
Q9NQ40	S52A3_HUMAN	278	T	M	Polymorphism	-
Q9NQ40	S52A3_HUMAN	266	R	W	Unclassified	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	36	E	K	Disease	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	330	G	V	Unclassified	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	58	V	D	Disease	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	132	R	W	Disease	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	375	G	D	Unclassified	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	174	D	G	Polymorphism	-
Q9NQ40	S52A3_HUMAN	74	I	M	Polymorphism	-
Q9NQ40	S52A3_HUMAN	312	A	V	Unclassified	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	457	F	L	Disease	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	319	P	S	Unclassified	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	413	V	A	Disease	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	71	E	K	Disease	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	224	F	L	Disease	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	350	L	M	Polymorphism	-
Q9NQ40	S52A3_HUMAN	21	N	S	Disease	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	17	W	R	Disease	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	28	P	T	Disease	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ40	S52A3_HUMAN	411	S	R	Polymorphism	-
Q9NQ40	S52A3_HUMAN	220	P	H	Unclassified	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
Q9NQ48	LZTL1_HUMAN	251	Q	R	Polymorphism	-
Q9NQ48	LZTL1_HUMAN	87	L	P	Disease	Bardet-Biedl syndrome 17 (BBS17) [MIM:615994]
Q9NQ48	LZTL1_HUMAN	246	D	N	Polymorphism	-
Q9NQ48	LZTL1_HUMAN	152	K	E	Polymorphism	-
Q9NQ50	RM40_HUMAN	11	L	P	Polymorphism	-
Q9NQ50	RM40_HUMAN	129	R	H	Polymorphism	-
Q9NQ55	SSF1_HUMAN	358	G	V	Polymorphism	-
Q9NQ55	SSF1_HUMAN	408	Q	R	Polymorphism	-
Q9NQ60	EQTN_HUMAN	101	N	D	Polymorphism	-
Q9NQ60	EQTN_HUMAN	274	T	K	Polymorphism	-
Q9NQ60	EQTN_HUMAN	110	I	T	Polymorphism	-
Q9NQ66	PLCB1_HUMAN	854	E	K	Polymorphism	-
Q9NQ66	PLCB1_HUMAN	907	A	P	Unclassified	A breast cancer sample
Q9NQ75	CASS4_HUMAN	780	Q	H	Polymorphism	-
Q9NQ75	CASS4_HUMAN	660	P	S	Polymorphism	-
Q9NQ75	CASS4_HUMAN	629	T	N	Polymorphism	-
Q9NQ75	CASS4_HUMAN	491	R	K	Polymorphism	-
Q9NQ76	MEPE_HUMAN	330	V	I	Polymorphism	-
Q9NQ79	CRAC1_HUMAN	569	V	M	Polymorphism	-
Q9NQ79	CRAC1_HUMAN	658	E	K	Polymorphism	-
Q9NQ79	CRAC1_HUMAN	253	A	T	Polymorphism	-
Q9NQ86	TRI36_HUMAN	725	Q	E	Polymorphism	-
Q9NQ86	TRI36_HUMAN	518	D	N	Disease	Anencephaly (ANPH) [MIM:206500]
Q9NQ86	TRI36_HUMAN	678	D	N	Polymorphism	-
Q9NQ86	TRI36_HUMAN	428	K	R	Polymorphism	-
Q9NQ86	TRI36_HUMAN	456	N	S	Polymorphism	-
Q9NQ87	HEYL_HUMAN	47	H	R	Polymorphism	-
Q9NQ89	CL004_HUMAN	328	L	P	Disease	Mental retardation, autosomal recessive 66 (MRT66) [MIM:618221]
Q9NQ90	ANO2_HUMAN	147	P	S	Polymorphism	-
Q9NQ90	ANO2_HUMAN	505	S	A	Polymorphism	-
Q9NQ90	ANO2_HUMAN	112	V	A	Polymorphism	-
Q9NQ90	ANO2_HUMAN	401	M	I	Polymorphism	-
Q9NQ92	COPRS_HUMAN	43	S	G	Polymorphism	-
Q9NQ94	A1CF_HUMAN	555	V	M	Polymorphism	-
Q9NQ94	A1CF_HUMAN	558	A	S	Polymorphism	-
Q9NQA5	TRPV5_HUMAN	712	L	F	Polymorphism	-
Q9NQA5	TRPV5_HUMAN	8	A	V	Polymorphism	-
Q9NQA5	TRPV5_HUMAN	154	R	H	Polymorphism	-
Q9NQA5	TRPV5_HUMAN	563	A	T	Polymorphism	-
Q9NQB0	TF7L2_HUMAN	346	K	N	Polymorphism	-
Q9NQB0	TF7L2_HUMAN	465	R	C	Unclassified	A colorectal cancer sample
Q9NQC1	JADE2_HUMAN	581	R	G	Polymorphism	-
Q9NQC3	RTN4_HUMAN	357	D	V	Polymorphism	-
Q9NQC3	RTN4_HUMAN	899	E	Q	Polymorphism	-
Q9NQC3	RTN4_HUMAN	920	S	C	Polymorphism	-
Q9NQC3	RTN4_HUMAN	429	L	V	Unclassified	A colorectal cancer sample
Q9NQC7	CYLD_HUMAN	747	E	G	Disease	Multiple familial trichoepithelioma 1 (MFT1) [MIM:601606]
Q9NQC7	CYLD_HUMAN	747	E	G	Disease	Brooke-Spiegler syndrome (BRSS) [MIM:605041]
Q9NQC8	IFT46_HUMAN	9	C	Y	Polymorphism	-
Q9NQE7	TSSP_HUMAN	204	A	G	Polymorphism	-
Q9NQE7	TSSP_HUMAN	104	S	I	Polymorphism	-
Q9NQE9	HINT3_HUMAN	36	G	A	Polymorphism	-
Q9NQF3	SERHL_HUMAN	3	E	K	Polymorphism	-
Q9NQG6	MID51_HUMAN	264	D	N	Polymorphism	-
Q9NQG6	MID51_HUMAN	78	G	R	Polymorphism	-
Q9NQG6	MID51_HUMAN	169	R	W	Polymorphism	-
Q9NQG6	MID51_HUMAN	89	T	M	Polymorphism	-
Q9NQG7	HPS4_HUMAN	625	Q	H	Polymorphism	-
Q9NQG7	HPS4_HUMAN	552	V	M	Polymorphism	-
Q9NQG7	HPS4_HUMAN	229	E	G	Polymorphism	-
Q9NQG7	HPS4_HUMAN	443	L	V	Polymorphism	-
Q9NQG7	HPS4_HUMAN	606	H	Y	Polymorphism	-
Q9NQH7	XPP3_HUMAN	453	G	C	Disease	Nephronophthisis-like nephropathy 1 (NPHPL1) [MIM:613159]
Q9NQH7	XPP3_HUMAN	450	I	L	Polymorphism	-
Q9NQI0	DDX4_HUMAN	148	G	D	Polymorphism	-
Q9NQI0	DDX4_HUMAN	287	I	V	Polymorphism	-
Q9NQL9	DMRT3_HUMAN	261	N	T	Polymorphism	-
Q9NQL9	DMRT3_HUMAN	356	G	V	Polymorphism	-
Q9NQL9	DMRT3_HUMAN	164	A	T	Polymorphism	-
Q9NQN1	OR2S1_HUMAN	17	R	G	Polymorphism	-
Q9NQN1	OR2S1_HUMAN	161	T	A	Polymorphism	-
Q9NQN1	OR2S1_HUMAN	287	V	A	Polymorphism	-
Q9NQN1	OR2S1_HUMAN	143	M	V	Polymorphism	-
Q9NQN1	OR2S1_HUMAN	123	R	H	Polymorphism	-
Q9NQN1	OR2S1_HUMAN	89	P	S	Polymorphism	-
Q9NQN1	OR2S1_HUMAN	30	V	M	Polymorphism	-
Q9NQR4	NIT2_HUMAN	231	V	A	Polymorphism	-
Q9NQR9	G6PC2_HUMAN	171	I	V	Polymorphism	-
Q9NQR9	G6PC2_HUMAN	219	V	L	Polymorphism	-
Q9NQR9	G6PC2_HUMAN	324	S	P	Polymorphism	-
Q9NQR9	G6PC2_HUMAN	207	Y	S	Polymorphism	-
Q9NQR9	G6PC2_HUMAN	340	P	L	Polymorphism	-
Q9NQR9	G6PC2_HUMAN	342	S	C	Polymorphism	-
Q9NQS1	AVEN_HUMAN	228	Q	R	Polymorphism	-
Q9NQS3	NECT3_HUMAN	432	R	L	Polymorphism	-
Q9NQS5	GPR84_HUMAN	37	G	D	Polymorphism	-
Q9NQS5	GPR84_HUMAN	367	P	R	Polymorphism	-
Q9NQS7	INCE_HUMAN	506	M	T	Polymorphism	-
Q9NQS7	INCE_HUMAN	137	A	V	Polymorphism	-
Q9NQS7	INCE_HUMAN	100	R	H	Polymorphism	-
Q9NQS7	INCE_HUMAN	2	G	V	Polymorphism	-
Q9NQS7	INCE_HUMAN	644	E	D	Polymorphism	-
Q9NQT4	EXOS5_HUMAN	33	C	W	Polymorphism	-
Q9NQT4	EXOS5_HUMAN	5	T	M	Polymorphism	-
Q9NQT5	EXOS3_HUMAN	225	Y	H	Polymorphism	-
Q9NQT5	EXOS3_HUMAN	139	A	P	Disease	Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]
Q9NQT5	EXOS3_HUMAN	132	D	A	Disease	Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]
Q9NQT5	EXOS3_HUMAN	238	W	R	Disease	Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]
Q9NQT5	EXOS3_HUMAN	80	V	F	Polymorphism	-
Q9NQT5	EXOS3_HUMAN	31	G	A	Disease	Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]
Q9NQT6	FSCN3_HUMAN	24	A	S	Polymorphism	-
Q9NQT6	FSCN3_HUMAN	428	H	L	Polymorphism	-
Q9NQT8	KI13B_HUMAN	1471	V	I	Polymorphism	-
Q9NQU5	PAK6_HUMAN	151	T	I	Polymorphism	-
Q9NQU5	PAK6_HUMAN	376	A	V	Polymorphism	-
Q9NQU5	PAK6_HUMAN	103	R	C	Polymorphism	-
Q9NQU5	PAK6_HUMAN	184	E	K	Polymorphism	-
Q9NQU5	PAK6_HUMAN	210	T	M	Polymorphism	-
Q9NQU5	PAK6_HUMAN	514	L	R	Unclassified	A lung small cell carcinoma sample
Q9NQU5	PAK6_HUMAN	215	H	R	Polymorphism	-
Q9NQU5	PAK6_HUMAN	475	E	K	Polymorphism	-
Q9NQU5	PAK6_HUMAN	3	R	H	Unclassified	A colorectal cancer sample
Q9NQU5	PAK6_HUMAN	337	P	L	Polymorphism	-
Q9NQU5	PAK6_HUMAN	208	P	T	Polymorphism	-
Q9NQU5	PAK6_HUMAN	76	M	V	Polymorphism	-
Q9NQU5	PAK6_HUMAN	205	G	E	Polymorphism	-
Q9NQV5	PRD11_HUMAN	200	K	E	Unclassified	A patient with diffuse large B-cell lymphoma
Q9NQV5	PRD11_HUMAN	285	R	S	Unclassified	A patient with diffuse large B-cell lymphoma
Q9NQV6	PRD10_HUMAN	573	T	A	Polymorphism	-
Q9NQV6	PRD10_HUMAN	22	A	T	Polymorphism	-
Q9NQV7	PRDM9_HUMAN	335	Y	H	Polymorphism	-
Q9NQV8	PRDM8_HUMAN	261	F	L	Disease	Epilepsy, progressive myoclonic 10 (EPM10) [MIM:616640]
Q9NQW1	SC31B_HUMAN	129	L	F	Polymorphism	-
Q9NQW1	SC31B_HUMAN	100	Y	C	Polymorphism	-
Q9NQW1	SC31B_HUMAN	372	P	S	Polymorphism	-
Q9NQW1	SC31B_HUMAN	478	R	T	Polymorphism	-
Q9NQW1	SC31B_HUMAN	89	V	A	Polymorphism	-
Q9NQW1	SC31B_HUMAN	332	S	A	Polymorphism	-
Q9NQW1	SC31B_HUMAN	1169	A	S	Polymorphism	-
Q9NQW1	SC31B_HUMAN	433	R	Q	Polymorphism	-
Q9NQW1	SC31B_HUMAN	527	S	R	Polymorphism	-
Q9NQW5	PRDM7_HUMAN	435	N	K	Polymorphism	-
Q9NQW5	PRDM7_HUMAN	90	D	E	Polymorphism	-
Q9NQW5	PRDM7_HUMAN	131	R	K	Polymorphism	-
Q9NQW6	ANLN_HUMAN	65	S	W	Polymorphism	-
Q9NQW6	ANLN_HUMAN	618	G	C	Disease	Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032]
Q9NQW6	ANLN_HUMAN	185	R	K	Polymorphism	-
Q9NQW6	ANLN_HUMAN	431	R	C	Disease	Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032]
Q9NQW8	CNGB3_HUMAN	750	P	S	Polymorphism	-
Q9NQW8	CNGB3_HUMAN	513	D	Y	Unclassified	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	203	R	Q	Unclassified	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	466	M	T	Unclassified	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	27	N	S	Polymorphism	-
Q9NQW8	CNGB3_HUMAN	558	G	C	Disease	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	25	R	H	Polymorphism	-
Q9NQW8	CNGB3_HUMAN	107	G	R	Unclassified	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	672	T	P	Unclassified	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	435	S	F	Disease	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	525	F	N	Disease	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	148	K	E	Disease	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	298	T	P	Polymorphism	-
Q9NQW8	CNGB3_HUMAN	156	S	F	Disease	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	755	E	G	Polymorphism	-
Q9NQW8	CNGB3_HUMAN	595	L	F	Disease	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	309	P	L	Disease	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	469	Y	D	Disease	Stargardt disease 1 (STGD1) [MIM:248200]
Q9NQW8	CNGB3_HUMAN	234	C	W	Polymorphism	-
Q9NQW8	CNGB3_HUMAN	403	R	Q	Unclassified	-
Q9NQW8	CNGB3_HUMAN	199	E	K	Unclassified	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQW8	CNGB3_HUMAN	307	I	V	Polymorphism	-
Q9NQW8	CNGB3_HUMAN	494	D	N	Unclassified	Achromatopsia 3 (ACHM3) [MIM:262300]
Q9NQX0	PRDM6_HUMAN	263	C	S	Unclassified	Patent ductus arteriosus 3 (PDA3) [MIM:617039]
Q9NQX0	PRDM6_HUMAN	462	Q	R	Disease	Patent ductus arteriosus 3 (PDA3) [MIM:617039]
Q9NQX0	PRDM6_HUMAN	549	R	Q	Disease	Patent ductus arteriosus 3 (PDA3) [MIM:617039]
Q9NQX1	PRDM5_HUMAN	107	Y	C	Disease	Brittle cornea syndrome 2 (BCS2) [MIM:614170]
Q9NQX3	GEPH_HUMAN	580	D	A	Disease	Molybdenum cofactor deficiency, complementation group C (MOCODC) [MIM:615501]
Q9NQX3	GEPH_HUMAN	375	G	D	Disease	Molybdenum cofactor deficiency, complementation group C (MOCODC) [MIM:615501]
Q9NQX3	GEPH_HUMAN	10	N	Y	Unclassified	-
Q9NQX4	MYO5C_HUMAN	172	R	C	Polymorphism	-
Q9NQX4	MYO5C_HUMAN	634	L	S	Polymorphism	-
Q9NQX4	MYO5C_HUMAN	522	L	P	Polymorphism	-
Q9NQX4	MYO5C_HUMAN	1396	P	L	Polymorphism	-
Q9NQX4	MYO5C_HUMAN	1075	E	K	Polymorphism	-
Q9NQX7	ITM2C_HUMAN	53	G	S	Polymorphism	-
Q9NQZ2	SAS10_HUMAN	23	T	M	Polymorphism	-
Q9NQZ5	STAR7_HUMAN	140	R	P	Polymorphism	-
Q9NQZ6	ZC4H2_HUMAN	63	V	L	Disease	Wieacker-Wolf syndrome (WRWF) [MIM:314580]
Q9NQZ6	ZC4H2_HUMAN	198	R	Q	Disease	Wieacker-Wolf syndrome (WRWF) [MIM:314580]
Q9NQZ6	ZC4H2_HUMAN	213	R	W	Disease	Wieacker-Wolf syndrome (WRWF) [MIM:314580]
Q9NQZ6	ZC4H2_HUMAN	201	P	S	Disease	Wieacker-Wolf syndrome (WRWF) [MIM:314580]
Q9NQZ6	ZC4H2_HUMAN	66	L	H	Disease	Wieacker-Wolf syndrome (WRWF) [MIM:314580]
Q9NQZ6	ZC4H2_HUMAN	18	R	K	Disease	Wieacker-Wolf syndrome (WRWF) [MIM:314580]
Q9NQZ7	ENTP7_HUMAN	276	V	A	Polymorphism	-
Q9NQZ8	ZNF71_HUMAN	27	R	G	Polymorphism	-
Q9NQZ8	ZNF71_HUMAN	105	V	I	Polymorphism	-
Q9NQZ8	ZNF71_HUMAN	121	P	L	Polymorphism	-
Q9NR00	TCIM_HUMAN	10	V	I	Polymorphism	-
Q9NR12	PDLI7_HUMAN	326	A	T	Polymorphism	-
Q9NR12	PDLI7_HUMAN	450	K	N	Unclassified	A breast cancer sample
Q9NR16	C163B_HUMAN	582	G	A	Polymorphism	-
Q9NR16	C163B_HUMAN	578	D	N	Polymorphism	-
Q9NR16	C163B_HUMAN	1055	G	S	Polymorphism	-
Q9NR16	C163B_HUMAN	1108	M	T	Polymorphism	-
Q9NR16	C163B_HUMAN	523	L	M	Polymorphism	-
Q9NR20	DYRK4_HUMAN	189	N	S	Polymorphism	-
Q9NR20	DYRK4_HUMAN	454	D	V	Polymorphism	-
Q9NR20	DYRK4_HUMAN	95	V	I	Polymorphism	-
Q9NR20	DYRK4_HUMAN	70	A	S	Polymorphism	-
Q9NR20	DYRK4_HUMAN	61	A	T	Polymorphism	-
Q9NR23	GDF3_HUMAN	266	R	C	Disease	Klippel-Feil syndrome 3, autosomal dominant (KFS3) [MIM:613702]
Q9NR23	GDF3_HUMAN	305	L	P	Disease	Microphthalmia, isolated, 7 (MCOP7) [MIM:613704]
Q9NR23	GDF3_HUMAN	328	V	L	Polymorphism	-
Q9NR23	GDF3_HUMAN	195	R	Q	Disease	Microphthalmia, isolated, 7 (MCOP7) [MIM:613704]
Q9NR23	GDF3_HUMAN	266	R	C	Disease	Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]
Q9NR23	GDF3_HUMAN	274	R	W	Disease	Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]
Q9NR23	GDF3_HUMAN	213	G	R	Polymorphism	-
Q9NR28	DBLOH_HUMAN	126	S	L	Disease	Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152]
Q9NR30	DDX21_HUMAN	27	T	I	Polymorphism	-
Q9NR33	DPOE4_HUMAN	17	G	V	Polymorphism	-
Q9NR45	SIAS_HUMAN	237	R	C	Disease	Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
Q9NR45	SIAS_HUMAN	68	E	D	Polymorphism	-
Q9NR45	SIAS_HUMAN	151	R	H	Disease	Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
Q9NR45	SIAS_HUMAN	133	G	V	Disease	Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
Q9NR45	SIAS_HUMAN	188	Y	H	Disease	Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
Q9NR45	SIAS_HUMAN	29	H	N	Disease	Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
Q9NR45	SIAS_HUMAN	189	P	L	Disease	Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
Q9NR46	SHLB2_HUMAN	319	P	L	Polymorphism	-
Q9NR46	SHLB2_HUMAN	305	A	V	Polymorphism	-
Q9NR48	ASH1L_HUMAN	724	A	S	Unclassified	Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796]
Q9NR48	ASH1L_HUMAN	2396	R	H	Unclassified	Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796]
Q9NR48	ASH1L_HUMAN	1416	S	P	Polymorphism	-
Q9NR48	ASH1L_HUMAN	1775	C	W	Unclassified	Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796]
Q9NR48	ASH1L_HUMAN	1771	T	A	Polymorphism	-
Q9NR48	ASH1L_HUMAN	2791	A	P	Disease	Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796]
Q9NR48	ASH1L_HUMAN	1276	Y	H	Unclassified	Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796]
Q9NR48	ASH1L_HUMAN	2853	D	G	Unclassified	Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796]
Q9NR48	ASH1L_HUMAN	972	K	R	Unclassified	Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796]
Q9NR48	ASH1L_HUMAN	277	S	G	Polymorphism	-
Q9NR48	ASH1L_HUMAN	2085	V	I	Unclassified	Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796]
Q9NR50	EI2BG_HUMAN	27	L	Q	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9NR50	EI2BG_HUMAN	288	D	E	Polymorphism	-
Q9NR50	EI2BG_HUMAN	225	R	Q	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9NR50	EI2BG_HUMAN	47	G	E	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9NR50	EI2BG_HUMAN	87	A	V	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9NR50	EI2BG_HUMAN	346	I	T	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9NR55	BATF3_HUMAN	11	V	I	Polymorphism	-
Q9NR56	MBNL1_HUMAN	338	P	S	Unclassified	Dystrophia myotonica 1 (DM1) [MIM:160900]
Q9NR56	MBNL1_HUMAN	32	T	M	Unclassified	Dystrophia myotonica 1 (DM1) [MIM:160900]
Q9NR61	DLL4_HUMAN	390	C	Y	Disease	Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
Q9NR61	DLL4_HUMAN	121	A	P	Disease	Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
Q9NR61	DLL4_HUMAN	455	C	W	Disease	Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
Q9NR61	DLL4_HUMAN	390	C	R	Disease	Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
Q9NR61	DLL4_HUMAN	195	F	L	Disease	Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
Q9NR61	DLL4_HUMAN	186	R	C	Disease	Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
Q9NR61	DLL4_HUMAN	267	P	T	Disease	Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
Q9NR63	CP26B_HUMAN	64	H	R	Polymorphism	-
Q9NR63	CP26B_HUMAN	363	R	L	Disease	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]
Q9NR63	CP26B_HUMAN	146	S	P	Disease	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]
Q9NR63	CP26B_HUMAN	420	A	G	Polymorphism	-
Q9NR63	CP26B_HUMAN	227	D	N	Polymorphism	-
Q9NR63	CP26B_HUMAN	185	A	V	Polymorphism	-
Q9NR63	CP26B_HUMAN	479	V	I	Polymorphism	-
Q9NR63	CP26B_HUMAN	264	L	S	Polymorphism	-
Q9NR63	CP26B_HUMAN	380	E	K	Polymorphism	-
Q9NR63	CP26B_HUMAN	191	R	H	Polymorphism	-
Q9NR63	CP26B_HUMAN	473	R	C	Polymorphism	-
Q9NR63	CP26B_HUMAN	181	V	M	Polymorphism	-
Q9NR71	ASAH2_HUMAN	346	A	S	Polymorphism	-
Q9NR71	ASAH2_HUMAN	51	T	A	Polymorphism	-
Q9NR80	ARHG4_HUMAN	441	T	R	Unclassified	A breast cancer sample
Q9NR80	ARHG4_HUMAN	100	K	R	Unclassified	A breast cancer sample
Q9NR80	ARHG4_HUMAN	33	D	H	Polymorphism	-
Q9NR81	ARHG3_HUMAN	335	L	V	Polymorphism	-
Q9NR81	ARHG3_HUMAN	13	K	R	Polymorphism	-
Q9NR82	KCNQ5_HUMAN	429	S	I	Disease	Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601]
Q9NR82	KCNQ5_HUMAN	369	P	R	Disease	Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601]
Q9NR82	KCNQ5_HUMAN	191	W	G	Unclassified	A colorectal cancer sample
Q9NR82	KCNQ5_HUMAN	145	V	G	Disease	Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601]
Q9NR82	KCNQ5_HUMAN	244	R	C	Unclassified	A colorectal cancer sample
Q9NR82	KCNQ5_HUMAN	341	L	I	Disease	Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601]
Q9NR83	S2A4R_HUMAN	233	E	D	Polymorphism	-
Q9NR96	TLR9_HUMAN	79	H	Q	Polymorphism	-
Q9NR96	TLR9_HUMAN	863	R	Q	Polymorphism	-
Q9NR96	TLR9_HUMAN	933	T	M	Unclassified	A colorectal cancer sample
Q9NR96	TLR9_HUMAN	901	R	H	Unclassified	A colorectal cancer sample
Q9NR96	TLR9_HUMAN	882	A	T	Polymorphism	-
Q9NR96	TLR9_HUMAN	5	R	C	Polymorphism	-
Q9NR97	TLR8_HUMAN	10	M	V	Polymorphism	-
Q9NR97	TLR8_HUMAN	715	R	Q	Polymorphism	-
Q9NR99	MXRA5_HUMAN	1128	A	V	Polymorphism	-
Q9NR99	MXRA5_HUMAN	2678	H	R	Unclassified	Lung cancer (LNCR) [MIM:211980]
Q9NR99	MXRA5_HUMAN	2716	E	A	Unclassified	Lung cancer (LNCR) [MIM:211980]
Q9NR99	MXRA5_HUMAN	2426	E	D	Polymorphism	-
Q9NR99	MXRA5_HUMAN	2349	R	W	Unclassified	Lung cancer (LNCR) [MIM:211980]
Q9NR99	MXRA5_HUMAN	1665	P	S	Polymorphism	-
Q9NR99	MXRA5_HUMAN	2300	R	H	Unclassified	Lung cancer (LNCR) [MIM:211980]
Q9NR99	MXRA5_HUMAN	2000	G	S	Polymorphism	-
Q9NR99	MXRA5_HUMAN	2531	L	V	Polymorphism	-
Q9NR99	MXRA5_HUMAN	1394	G	D	Polymorphism	-
Q9NR99	MXRA5_HUMAN	1163	R	H	Polymorphism	-
Q9NR99	MXRA5_HUMAN	862	S	N	Disease	Lung cancer (LNCR) [MIM:211980]
Q9NR99	MXRA5_HUMAN	824	I	V	Polymorphism	-
Q9NR99	MXRA5_HUMAN	1028	V	F	Unclassified	Lung cancer (LNCR) [MIM:211980]
Q9NR99	MXRA5_HUMAN	98	A	D	Unclassified	Lung cancer (LNCR) [MIM:211980]
Q9NR99	MXRA5_HUMAN	2663	G	W	Polymorphism	-
Q9NR99	MXRA5_HUMAN	764	V	L	Polymorphism	-
Q9NR99	MXRA5_HUMAN	481	P	H	Unclassified	Lung cancer (LNCR) [MIM:211980]
Q9NR99	MXRA5_HUMAN	611	W	C	Unclassified	Lung cancer (LNCR) [MIM:211980]
Q9NR99	MXRA5_HUMAN	1484	T	A	Polymorphism	-
Q9NR99	MXRA5_HUMAN	1491	P	A	Unclassified	Lung cancer (LNCR) [MIM:211980]
Q9NR99	MXRA5_HUMAN	2763	A	G	Unclassified	Lung cancer (LNCR) [MIM:211980]
Q9NRA0	SPHK2_HUMAN	652	R	Q	Polymorphism	-
Q9NRA2	S17A5_HUMAN	334	P	R	Disease	Infantile sialic acid storage disorder (ISSD) [MIM:269920]
Q9NRA2	S17A5_HUMAN	296	V	I	Polymorphism	-
Q9NRA2	S17A5_HUMAN	183	H	R	Disease	Infantile sialic acid storage disorder (ISSD) [MIM:269920]
Q9NRA2	S17A5_HUMAN	371	G	V	Disease	Infantile sialic acid storage disorder (ISSD) [MIM:269920]
Q9NRA2	S17A5_HUMAN	136	K	E	Disease	Salla disease (SD) [MIM:604369]
Q9NRA2	S17A5_HUMAN	39	R	C	Disease	Salla disease (SD) [MIM:604369]
Q9NRB3	CHSTC_HUMAN	109	R	S	Polymorphism	-
Q9NRB3	CHSTC_HUMAN	52	P	H	Polymorphism	-
Q9NRB3	CHSTC_HUMAN	61	T	S	Polymorphism	-
Q9NRB3	CHSTC_HUMAN	145	A	P	Polymorphism	-
Q9NRB3	CHSTC_HUMAN	94	P	L	Polymorphism	-
Q9NRC1	ST7_HUMAN	186	A	T	Polymorphism	-
Q9NRC1	ST7_HUMAN	361	I	V	Polymorphism	-
Q9NRC6	SPTN5_HUMAN	1367	R	T	Polymorphism	-
Q9NRC6	SPTN5_HUMAN	2862	Q	R	Polymorphism	-
Q9NRC6	SPTN5_HUMAN	3275	A	G	Polymorphism	-
Q9NRC6	SPTN5_HUMAN	1345	R	H	Polymorphism	-
Q9NRC9	OTOR_HUMAN	31	L	P	Polymorphism	-
Q9NRD0	FBX8_HUMAN	269	L	I	Unclassified	A breast cancer sample
Q9NRD0	FBX8_HUMAN	156	Y	H	Polymorphism	-
Q9NRD0	FBX8_HUMAN	51	I	M	Polymorphism	-
Q9NRD1	FBX6_HUMAN	201	P	T	Polymorphism	-
Q9NRD1	FBX6_HUMAN	60	R	Q	Polymorphism	-
Q9NRD8	DUOX2_HUMAN	138	P	L	Polymorphism	-
Q9NRD8	DUOX2_HUMAN	1211	R	C	Unclassified	-
Q9NRD8	DUOX2_HUMAN	1492	R	C	Unclassified	-
Q9NRD8	DUOX2_HUMAN	1518	G	S	Disease	Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
Q9NRD8	DUOX2_HUMAN	36	Q	H	Disease	Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
Q9NRD8	DUOX2_HUMAN	376	R	W	Disease	Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
Q9NRD8	DUOX2_HUMAN	1067	S	L	Polymorphism	-
Q9NRD8	DUOX2_HUMAN	678	H	R	Polymorphism	-
Q9NRD9	DUOX1_HUMAN	1026	C	R	Polymorphism	-
Q9NRD9	DUOX1_HUMAN	1178	L	F	Polymorphism	-
Q9NRD9	DUOX1_HUMAN	962	I	T	Polymorphism	-
Q9NRE1	MMP26_HUMAN	43	K	E	Polymorphism	-
Q9NRE1	MMP26_HUMAN	260	I	M	Polymorphism	-
Q9NRE2	TSH2_HUMAN	681	A	T	Polymorphism	-
Q9NRE2	TSH2_HUMAN	113	R	S	Polymorphism	-
Q9NRF2	SH2B1_HUMAN	484	T	A	Polymorphism	-
Q9NRF2	SH2B1_HUMAN	541	V	A	Polymorphism	-
Q9NRF9	DPOE3_HUMAN	83	T	A	Polymorphism	-
Q9NRF9	DPOE3_HUMAN	126	D	A	Polymorphism	-
Q9NRF9	DPOE3_HUMAN	135	E	D	Polymorphism	-
Q9NRG0	CHRC1_HUMAN	55	C	Y	Polymorphism	-
Q9NRG0	CHRC1_HUMAN	126	H	R	Polymorphism	-
Q9NRG4	SMYD2_HUMAN	165	G	E	Polymorphism	-
Q9NRG4	SMYD2_HUMAN	430	I	M	Polymorphism	-
Q9NRG7	D39U1_HUMAN	270	Q	R	Polymorphism	-
Q9NRG7	D39U1_HUMAN	232	L	F	Polymorphism	-
Q9NRG7	D39U1_HUMAN	79	I	L	Polymorphism	-
Q9NRG7	D39U1_HUMAN	181	G	V	Polymorphism	-
Q9NRG9	AAAS_HUMAN	160	H	R	Disease	Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
Q9NRG9	AAAS_HUMAN	15	Q	K	Disease	Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
Q9NRG9	AAAS_HUMAN	108	K	M	Polymorphism	-
Q9NRG9	AAAS_HUMAN	263	S	P	Disease	Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
Q9NRH1	YAE1_HUMAN	68	K	E	Polymorphism	-
Q9NRH2	SNRK_HUMAN	391	P	S	Polymorphism	-
Q9NRH2	SNRK_HUMAN	765	I	M	Unclassified	A breast pleomorphic lobular carcinoma sample
Q9NRH2	SNRK_HUMAN	260	L	S	Polymorphism	-
Q9NRH2	SNRK_HUMAN	611	G	S	Unclassified	An ovarian mucinous carcinoma sample
Q9NRH2	SNRK_HUMAN	748	P	L	Unclassified	An ovarian serous carcinoma sample
Q9NRH3	TBG2_HUMAN	413	M	V	Polymorphism	-
Q9NRI5	DISC1_HUMAN	328	T	N	Polymorphism	-
Q9NRI5	DISC1_HUMAN	5	G	V	Polymorphism	-
Q9NRI5	DISC1_HUMAN	607	L	F	Polymorphism	-
Q9NRI5	DISC1_HUMAN	531	G	R	Polymorphism	-
Q9NRI5	DISC1_HUMAN	704	S	C	Polymorphism	-
Q9NRI5	DISC1_HUMAN	264	R	Q	Polymorphism	-
Q9NRI5	DISC1_HUMAN	116	A	V	Polymorphism	-
Q9NRI5	DISC1_HUMAN	330	L	F	Polymorphism	-
Q9NRJ1	MOST1_HUMAN	57	T	I	Polymorphism	-
Q9NRJ1	MOST1_HUMAN	49	K	R	Polymorphism	-
Q9NRJ1	MOST1_HUMAN	19	T	M	Polymorphism	-
Q9NRJ4	TULP4_HUMAN	1084	V	I	Polymorphism	-
Q9NRJ4	TULP4_HUMAN	522	S	N	Polymorphism	-
Q9NRJ4	TULP4_HUMAN	199	R	S	Polymorphism	-
Q9NRJ4	TULP4_HUMAN	1281	P	T	Polymorphism	-
Q9NRJ4	TULP4_HUMAN	979	D	N	Polymorphism	-
Q9NRJ4	TULP4_HUMAN	214	G	S	Polymorphism	-
Q9NRJ7	PCDBG_HUMAN	347	V	L	Polymorphism	-
Q9NRJ7	PCDBG_HUMAN	525	R	Q	Polymorphism	-
Q9NRJ7	PCDBG_HUMAN	532	S	G	Polymorphism	-
Q9NRJ7	PCDBG_HUMAN	508	A	T	Polymorphism	-
Q9NRJ7	PCDBG_HUMAN	91	D	E	Polymorphism	-
Q9NRK6	ABCBA_HUMAN	545	D	N	Polymorphism	-
Q9NRK6	ABCBA_HUMAN	471	R	T	Unclassified	A breast cancer sample
Q9NRK6	ABCBA_HUMAN	150	A	S	Polymorphism	-
Q9NRK6	ABCBA_HUMAN	242	R	G	Polymorphism	-
Q9NRL2	BAZ1A_HUMAN	1366	N	K	Polymorphism	-
Q9NRL2	BAZ1A_HUMAN	344	D	E	Polymorphism	-
Q9NRL3	STRN4_HUMAN	568	V	I	Polymorphism	-
Q9NRM0	GTR9_HUMAN	294	R	H	Polymorphism	-
Q9NRM0	GTR9_HUMAN	380	R	W	Disease	Hypouricemia renal 2 (RHUC2) [MIM:612076]
Q9NRM0	GTR9_HUMAN	350	P	L	Polymorphism	-
Q9NRM0	GTR9_HUMAN	275	T	M	Polymorphism	-
Q9NRM0	GTR9_HUMAN	282	V	I	Polymorphism	-
Q9NRM0	GTR9_HUMAN	25	G	R	Polymorphism	-
Q9NRM0	GTR9_HUMAN	75	L	R	Disease	Hypouricemia renal 2 (RHUC2) [MIM:612076]
Q9NRM0	GTR9_HUMAN	171	R	C	Disease	Hypouricemia renal 2 (RHUC2) [MIM:612076]
Q9NRM0	GTR9_HUMAN	22	S	N	Polymorphism	-
Q9NRM0	GTR9_HUMAN	281	D	H	Polymorphism	-
Q9NRM0	GTR9_HUMAN	216	G	R	Polymorphism	-
Q9NRM0	GTR9_HUMAN	191	E	D	Polymorphism	-
Q9NRM0	GTR9_HUMAN	198	R	C	Disease	Hypouricemia renal 2 (RHUC2) [MIM:612076]
Q9NRM0	GTR9_HUMAN	125	T	M	Disease	Hypouricemia renal 2 (RHUC2) [MIM:612076]
Q9NRM0	GTR9_HUMAN	300	R	H	Polymorphism	-
Q9NRM0	GTR9_HUMAN	169	V	M	Polymorphism	-
Q9NRM1	ENAM_HUMAN	576	F	L	Polymorphism	-
Q9NRM1	ENAM_HUMAN	648	I	T	Polymorphism	-
Q9NRM1	ENAM_HUMAN	767	D	G	Polymorphism	-
Q9NRM1	ENAM_HUMAN	763	R	Q	Polymorphism	-
Q9NRM1	ENAM_HUMAN	724	P	L	Polymorphism	-
Q9NRM1	ENAM_HUMAN	216	S	L	Disease	Amelogenesis imperfecta 1C (AI1C) [MIM:204650]
Q9NRM1	ENAM_HUMAN	216	S	L	Disease	Amelogenesis imperfecta 1B (AI1B) [MIM:104500]
Q9NRM2	ZN277_HUMAN	364	V	M	Polymorphism	-
Q9NRM2	ZN277_HUMAN	332	I	L	Unclassified	A breast cancer sample
Q9NRM2	ZN277_HUMAN	445	L	F	Unclassified	A breast cancer sample
Q9NRM2	ZN277_HUMAN	174	V	I	Polymorphism	-
Q9NRM6	I17RB_HUMAN	177	G	R	Polymorphism	-
Q9NRM6	I17RB_HUMAN	278	F	L	Polymorphism	-
Q9NRM6	I17RB_HUMAN	499	C	R	Polymorphism	-
Q9NRM6	I17RB_HUMAN	458	N	S	Polymorphism	-
Q9NRM6	I17RB_HUMAN	209	A	V	Polymorphism	-
Q9NRM6	I17RB_HUMAN	451	I	T	Polymorphism	-
Q9NRM6	I17RB_HUMAN	232	R	Q	Polymorphism	-
Q9NRM7	LATS2_HUMAN	91	S	L	Polymorphism	-
Q9NRM7	LATS2_HUMAN	324	A	V	Polymorphism	-
Q9NRM7	LATS2_HUMAN	40	G	E	Unclassified	A lung adenocarcinoma sample
Q9NRM7	LATS2_HUMAN	1025	L	P	Polymorphism	-
Q9NRM7	LATS2_HUMAN	1014	A	G	Polymorphism	-
Q9NRM7	LATS2_HUMAN	363	G	S	Polymorphism	-
Q9NRM7	LATS2_HUMAN	799	I	V	Polymorphism	-
Q9NRN9	METL5_HUMAN	202	V	G	Polymorphism	-
Q9NRP0	OSTC_HUMAN	9	F	L	Unclassified	A breast cancer sample
Q9NRP2	COXM2_HUMAN	11	T	S	Polymorphism	-
Q9NRP7	STK36_HUMAN	672	L	P	Polymorphism	-
Q9NRP7	STK36_HUMAN	583	R	Q	Polymorphism	-
Q9NRP7	STK36_HUMAN	816	T	A	Polymorphism	-
Q9NRP7	STK36_HUMAN	1004	V	I	Polymorphism	-
Q9NRP7	STK36_HUMAN	1111	Y	C	Polymorphism	-
Q9NRP7	STK36_HUMAN	840	L	V	Polymorphism	-
Q9NRP7	STK36_HUMAN	476	F	S	Polymorphism	-
Q9NRP7	STK36_HUMAN	1185	P	S	Unclassified	-
Q9NRP7	STK36_HUMAN	1112	R	Q	Polymorphism	-
Q9NRP7	STK36_HUMAN	1313	H	P	Polymorphism	-
Q9NRP7	STK36_HUMAN	240	R	W	Polymorphism	-
Q9NRP7	STK36_HUMAN	462	L	V	Polymorphism	-
Q9NRP7	STK36_HUMAN	477	R	W	Polymorphism	-
Q9NRP7	STK36_HUMAN	638	Q	P	Polymorphism	-
Q9NRP7	STK36_HUMAN	660	S	C	Unclassified	A breast pleomorphic lobular carcinoma sample
Q9NRP7	STK36_HUMAN	329	D	N	Polymorphism	-
Q9NRP7	STK36_HUMAN	839	R	Q	Polymorphism	-
Q9NRP7	STK36_HUMAN	767	S	Y	Unclassified	An ovarian papillary serous adenocarcinoma sample
Q9NRP7	STK36_HUMAN	463	K	N	Polymorphism	-
Q9NRP7	STK36_HUMAN	1003	G	D	Polymorphism	-
Q9NRP7	STK36_HUMAN	1138	Q	K	Unclassified	An ovarian serous carcinoma sample
Q9NRP7	STK36_HUMAN	90	I	M	Polymorphism	-
Q9NRP7	STK36_HUMAN	295	K	R	Polymorphism	-
Q9NRP7	STK36_HUMAN	767	S	T	Polymorphism	-
Q9NRQ2	PLS4_HUMAN	34	N	S	Polymorphism	-
Q9NRQ2	PLS4_HUMAN	155	I	V	Polymorphism	-
Q9NRR1	CYTL1_HUMAN	136	R	C	Polymorphism	-
Q9NRR1	CYTL1_HUMAN	51	S	L	Polymorphism	-
Q9NRR2	TRYG1_HUMAN	204	L	I	Polymorphism	-
Q9NRR2	TRYG1_HUMAN	160	W	S	Polymorphism	-
Q9NRR2	TRYG1_HUMAN	132	S	T	Polymorphism	-
Q9NRR2	TRYG1_HUMAN	239	T	I	Polymorphism	-
Q9NRR2	TRYG1_HUMAN	60	M	V	Polymorphism	-
Q9NRR2	TRYG1_HUMAN	288	L	F	Polymorphism	-
Q9NRR2	TRYG1_HUMAN	126	I	M	Polymorphism	-
Q9NRR4	RNC_HUMAN	67	P	T	Polymorphism	-
Q9NRR4	RNC_HUMAN	321	S	L	Polymorphism	-
Q9NRR5	UBQL4_HUMAN	90	D	A	Disease	Amyotrophic lateral sclerosis (ALS) [MIM:105400]
Q9NRR5	UBQL4_HUMAN	495	I	M	Polymorphism	-
Q9NRR6	INP5E_HUMAN	515	R	W	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	435	R	Q	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	303	V	M	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	286	G	R	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	585	R	C	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	522	G	A	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	512	R	W	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	641	C	R	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	563	R	H	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	534	Y	D	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	426	T	N	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	201	I	M	Polymorphism	-
Q9NRR6	INP5E_HUMAN	621	R	Q	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	345	R	S	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	474	W	R	Unclassified	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	378	R	C	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRR6	INP5E_HUMAN	580	K	E	Disease	Joubert syndrome 1 (JBTS1) [MIM:213300]
Q9NRS4	TMPS4_HUMAN	208	V	G	Polymorphism	-
Q9NRS4	TMPS4_HUMAN	198	K	E	Polymorphism	-
Q9NRS4	TMPS4_HUMAN	177	R	Q	Polymorphism	-
Q9NRS6	SNX15_HUMAN	334	R	C	Polymorphism	-
Q9NRU3	CNNM1_HUMAN	819	R	Q	Polymorphism	-
Q9NRV9	HEBP1_HUMAN	183	E	D	Polymorphism	-
Q9NRW4	DUS22_HUMAN	119	R	H	Polymorphism	-
Q9NRW7	VPS45_HUMAN	224	T	N	Disease	Neutropenia, severe congenital 5, autosomal recessive (SCN5) [MIM:615285]
Q9NRW7	VPS45_HUMAN	238	E	K	Disease	Neutropenia, severe congenital 5, autosomal recessive (SCN5) [MIM:615285]
Q9NRX1	PNO1_HUMAN	71	G	A	Polymorphism	-
Q9NRX1	PNO1_HUMAN	11	R	G	Polymorphism	-
Q9NRX5	SERC1_HUMAN	225	S	G	Polymorphism	-
Q9NRX5	SERC1_HUMAN	199	L	V	Polymorphism	-
Q9NRX5	SERC1_HUMAN	216	F	V	Polymorphism	-
Q9NRY6	PLS3_HUMAN	293	V	I	Polymorphism	-
Q9NRZ9	HELLS_HUMAN	699	Q	R	Unclassified	Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4) [MIM:616911]
Q9NRZ9	HELLS_HUMAN	616	H	R	Unclassified	-
Q9NS15	LTBP3_HUMAN	696	S	C	Unclassified	Geleophysic dysplasia 3 (GPHYSD3) [MIM:617809]
Q9NS18	GLRX2_HUMAN	95	K	E	Polymorphism	-
Q9NS23	RASF1_HUMAN	329	Y	C	Polymorphism	-
Q9NS23	RASF1_HUMAN	319	H	R	Polymorphism	-
Q9NS23	RASF1_HUMAN	133	D	E	Polymorphism	-
Q9NS23	RASF1_HUMAN	137	A	S	Polymorphism	-
Q9NS23	RASF1_HUMAN	21	K	Q	Polymorphism	-
Q9NS23	RASF1_HUMAN	135	S	F	Polymorphism	-
Q9NS23	RASF1_HUMAN	53	R	C	Polymorphism	-
Q9NS25	SPNXB_HUMAN	74	L	V	Polymorphism	-
Q9NS39	RED2_HUMAN	512	V	I	Unclassified	A colorectal cancer sample
Q9NS39	RED2_HUMAN	210	T	M	Unclassified	A colorectal cancer sample
Q9NS39	RED2_HUMAN	626	A	T	Polymorphism	-
Q9NS39	RED2_HUMAN	44	A	T	Polymorphism	-
Q9NS40	KCNH7_HUMAN	958	G	A	Polymorphism	-
Q9NS56	TOPRS_HUMAN	812	P	R	Polymorphism	-
Q9NS56	TOPRS_HUMAN	154	A	T	Polymorphism	-
Q9NS56	TOPRS_HUMAN	517	E	K	Polymorphism	-
Q9NS56	TOPRS_HUMAN	749	N	D	Polymorphism	-
Q9NS62	THSD1_HUMAN	768	K	R	Polymorphism	-
Q9NS62	THSD1_HUMAN	125	V	G	Polymorphism	-
Q9NS62	THSD1_HUMAN	224	R	G	Polymorphism	-
Q9NS62	THSD1_HUMAN	491	D	H	Polymorphism	-
Q9NS68	TNR19_HUMAN	405	V	I	Polymorphism	-
Q9NS68	TNR19_HUMAN	159	A	V	Polymorphism	-
Q9NS68	TNR19_HUMAN	31	S	T	Polymorphism	-
Q9NS71	GKN1_HUMAN	118	K	T	Unclassified	A breast cancer sample
Q9NS73	MBIP1_HUMAN	7	L	H	Polymorphism	-
Q9NS73	MBIP1_HUMAN	22	R	S	Polymorphism	-
Q9NS82	AAA1_HUMAN	112	E	D	Polymorphism	-
Q9NS82	AAA1_HUMAN	413	R	Q	Polymorphism	-
Q9NS86	LANC2_HUMAN	74	I	V	Polymorphism	-
Q9NS86	LANC2_HUMAN	56	T	P	Polymorphism	-
Q9NS87	KIF15_HUMAN	1206	L	M	Polymorphism	-
Q9NS87	KIF15_HUMAN	211	A	V	Polymorphism	-
Q9NS87	KIF15_HUMAN	996	T	S	Polymorphism	-
Q9NS87	KIF15_HUMAN	1272	E	D	Polymorphism	-
Q9NS91	RAD18_HUMAN	302	R	Q	Polymorphism	-
Q9NS91	RAD18_HUMAN	307	I	V	Polymorphism	-
Q9NS91	RAD18_HUMAN	6	E	A	Polymorphism	-
Q9NS93	TM7S3_HUMAN	248	P	L	Polymorphism	-
Q9NS93	TM7S3_HUMAN	179	P	R	Polymorphism	-
Q9NS98	SEM3G_HUMAN	180	S	N	Polymorphism	-
Q9NS98	SEM3G_HUMAN	332	V	I	Polymorphism	-
Q9NS98	SEM3G_HUMAN	232	I	T	Polymorphism	-
Q9NSA0	S22AB_HUMAN	155	V	G	Polymorphism	-
Q9NSA1	FGF21_HUMAN	141	G	S	Polymorphism	-
Q9NSA1	FGF21_HUMAN	174	L	P	Polymorphism	-
Q9NSB2	KRT84_HUMAN	446	C	R	Polymorphism	-
Q9NSB2	KRT84_HUMAN	184	R	Q	Polymorphism	-
Q9NSB2	KRT84_HUMAN	198	S	N	Polymorphism	-
Q9NSB2	KRT84_HUMAN	497	G	R	Polymorphism	-
Q9NSB2	KRT84_HUMAN	206	I	V	Polymorphism	-
Q9NSB4	KRT82_HUMAN	452	E	D	Polymorphism	-
Q9NSB4	KRT82_HUMAN	458	T	M	Polymorphism	-
Q9NSB4	KRT82_HUMAN	219	E	Q	Polymorphism	-
Q9NSB8	HOME2_HUMAN	239	I	S	Polymorphism	-
Q9NSB8	HOME2_HUMAN	219	R	H	Polymorphism	-
Q9NSB8	HOME2_HUMAN	196	R	P	Disease	Deafness, autosomal dominant, 68 (DFNA68) [MIM:616707]
Q9NSC2	SALL1_HUMAN	1265	G	E	Polymorphism	-
Q9NSC2	SALL1_HUMAN	159	S	G	Polymorphism	-
Q9NSC5	HOME3_HUMAN	342	S	R	Polymorphism	-
Q9NSC7	SIA7A_HUMAN	80	V	A	Polymorphism	-
Q9NSC7	SIA7A_HUMAN	424	I	V	Polymorphism	-
Q9NSD5	S6A13_HUMAN	426	V	I	Polymorphism	-
Q9NSD9	SYFB_HUMAN	461	T	P	Disease	Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658]
Q9NSD9	SYFB_HUMAN	305	R	Q	Disease	Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658]
Q9NSD9	SYFB_HUMAN	76	C	R	Disease	Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658]
Q9NSD9	SYFB_HUMAN	585	V	I	Polymorphism	-
Q9NSD9	SYFB_HUMAN	285	E	K	Disease	Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658]
Q9NSD9	SYFB_HUMAN	401	R	Q	Disease	Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658]
Q9NSD9	SYFB_HUMAN	252	F	S	Disease	Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658]
Q9NSD9	SYFB_HUMAN	262	K	E	Disease	Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658]
Q9NSD9	SYFB_HUMAN	256	T	M	Disease	Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658]
Q9NSE4	SYIM_HUMAN	708	E	K	Unclassified	-
Q9NSE4	SYIM_HUMAN	522	I	V	Polymorphism	-
Q9NSE4	SYIM_HUMAN	909	P	L	Disease	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007]
Q9NSE4	SYIM_HUMAN	14	A	V	Polymorphism	-
Q9NSG2	CA112_HUMAN	481	A	S	Polymorphism	-
Q9NSI2	F207A_HUMAN	212	V	L	Polymorphism	-
Q9NSI5	IGSF5_HUMAN	350	D	E	Polymorphism	-
Q9NSI5	IGSF5_HUMAN	170	R	W	Polymorphism	-
Q9NSI5	IGSF5_HUMAN	156	N	K	Polymorphism	-
Q9NSI5	IGSF5_HUMAN	49	R	T	Polymorphism	-
Q9NSI6	BRWD1_HUMAN	1699	L	P	Polymorphism	-
Q9NSI6	BRWD1_HUMAN	2156	K	R	Polymorphism	-
Q9NSI6	BRWD1_HUMAN	1511	S	P	Polymorphism	-
Q9NSI6	BRWD1_HUMAN	83	Q	E	Polymorphism	-
Q9NSI8	SAMN1_HUMAN	63	G	A	Polymorphism	-
Q9NSK0	KLC4_HUMAN	72	R	H	Polymorphism	-
Q9NSK7	CS012_HUMAN	53	G	R	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	134	A	P	Unclassified	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	58	G	S	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	63	A	P	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	98	R	S	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	63	A	P	Disease	Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043]
Q9NSK7	CS012_HUMAN	96	Q	P	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	121	L	Q	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	48	A	P	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	65	G	V	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	69	G	R	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	149	Q	R	Polymorphism	-
Q9NSK7	CS012_HUMAN	11	T	M	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	83	P	L	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	142	K	E	Unclassified	-
Q9NSK7	CS012_HUMAN	60	P	L	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	39	S	F	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	65	G	E	Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7	CS012_HUMAN	142	K	T	Polymorphism	-
Q9NST1	PLPL3_HUMAN	76	A	T	Unclassified	Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282]
Q9NST1	PLPL3_HUMAN	216	T	P	Polymorphism	-
Q9NST1	PLPL3_HUMAN	99	C	G	Polymorphism	-
Q9NST1	PLPL3_HUMAN	148	I	M	Polymorphism	-
Q9NST1	PLPL3_HUMAN	434	K	E	Polymorphism	-
Q9NST1	PLPL3_HUMAN	453	S	I	Polymorphism	-
Q9NST1	PLPL3_HUMAN	104	A	V	Unclassified	Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282]
Q9NST1	PLPL3_HUMAN	200	T	M	Unclassified	Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282]
Q9NST1	PLPL3_HUMAN	115	G	C	Polymorphism	-
Q9NSU2	TREX1_HUMAN	303	T	P	Disease	Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750]
Q9NSU2	TREX1_HUMAN	200	D	H	Disease	Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750]
Q9NSU2	TREX1_HUMAN	200	D	N	Disease	Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750]
Q9NSU2	TREX1_HUMAN	240	R	S	Disease	Systemic lupus erythematosus (SLE) [MIM:152700]
Q9NSU2	TREX1_HUMAN	227	G	S	Disease	Systemic lupus erythematosus (SLE) [MIM:152700]
Q9NSU2	TREX1_HUMAN	198	E	K	Disease	Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750]
Q9NSU2	TREX1_HUMAN	247	A	P	Disease	Systemic lupus erythematosus (SLE) [MIM:152700]
Q9NSU2	TREX1_HUMAN	122	V	A	Disease	Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750]
Q9NSU2	TREX1_HUMAN	114	R	H	Disease	Systemic lupus erythematosus (SLE) [MIM:152700]
Q9NSU2	TREX1_HUMAN	18	D	N	Disease	Chilblain lupus 1 (CHBL1) [MIM:610448]
Q9NSU2	TREX1_HUMAN	158	A	V	Disease	Systemic lupus erythematosus (SLE) [MIM:152700]
Q9NSU2	TREX1_HUMAN	18	D	N	Disease	Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750]
Q9NSU2	TREX1_HUMAN	200	D	H	Disease	Systemic lupus erythematosus (SLE) [MIM:152700]
Q9NSU2	TREX1_HUMAN	305	Y	C	Disease	Systemic lupus erythematosus (SLE) [MIM:152700]
Q9NSU2	TREX1_HUMAN	266	E	G	Polymorphism	-
Q9NSU2	TREX1_HUMAN	114	R	H	Disease	Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750]
Q9NSU2	TREX1_HUMAN	306	G	A	Disease	Systemic lupus erythematosus (SLE) [MIM:152700]
Q9NSU2	TREX1_HUMAN	201	V	D	Disease	Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750]
Q9NSU2	TREX1_HUMAN	290	P	L	Disease	Systemic lupus erythematosus (SLE) [MIM:152700]
Q9NSV4	DIAP3_HUMAN	1041	E	G	Polymorphism	-
Q9NSV4	DIAP3_HUMAN	363	N	S	Polymorphism	-
Q9NSV4	DIAP3_HUMAN	773	F	L	Polymorphism	-
Q9NSY1	BMP2K_HUMAN	1002	T	S	Polymorphism	-
Q9NSY1	BMP2K_HUMAN	288	R	H	Polymorphism	-
Q9NSY1	BMP2K_HUMAN	486	Q	H	Polymorphism	-
Q9NSY1	BMP2K_HUMAN	68	V	M	Unclassified	A lung squamous cell carcinoma sample
Q9NSY1	BMP2K_HUMAN	405	G	S	Polymorphism	-
Q9NSY1	BMP2K_HUMAN	212	D	V	Polymorphism	-
Q9NSY2	STAR5_HUMAN	74	G	S	Polymorphism	-
Q9NT22	EMIL3_HUMAN	532	S	N	Polymorphism	-
Q9NT68	TEN2_HUMAN	728	N	S	Polymorphism	-
Q9NT68	TEN2_HUMAN	1719	V	F	Polymorphism	-
Q9NTG1	PKDRE_HUMAN	1411	N	D	Polymorphism	-
Q9NTG1	PKDRE_HUMAN	528	R	Q	Polymorphism	-
Q9NTG1	PKDRE_HUMAN	1875	T	I	Unclassified	A breast cancer sample
Q9NTG1	PKDRE_HUMAN	1528	I	M	Polymorphism	-
Q9NTG1	PKDRE_HUMAN	992	T	P	Polymorphism	-
Q9NTG1	PKDRE_HUMAN	993	V	A	Polymorphism	-
Q9NTG1	PKDRE_HUMAN	1147	I	M	Polymorphism	-
Q9NTG1	PKDRE_HUMAN	669	A	G	Unclassified	A breast cancer sample
Q9NTG1	PKDRE_HUMAN	1729	V	I	Polymorphism	-
Q9NTG1	PKDRE_HUMAN	1091	N	S	Polymorphism	-
Q9NTG1	PKDRE_HUMAN	914	L	P	Polymorphism	-
Q9NTG1	PKDRE_HUMAN	26	V	A	Polymorphism	-
Q9NTG7	SIR3_HUMAN	369	G	S	Polymorphism	-
Q9NTG7	SIR3_HUMAN	208	V	I	Polymorphism	-
Q9NTG7	SIR3_HUMAN	80	R	W	Polymorphism	-
Q9NTI2	AT8A2_HUMAN	1069	A	T	Polymorphism	-
Q9NTI2	AT8A2_HUMAN	376	I	M	Disease	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4) [MIM:615268]
Q9NTJ3	SMC4_HUMAN	415	E	D	Polymorphism	-
Q9NTJ3	SMC4_HUMAN	356	N	S	Polymorphism	-
Q9NTJ3	SMC4_HUMAN	181	S	R	Polymorphism	-
Q9NTJ4	MA2C1_HUMAN	818	R	H	Polymorphism	-
Q9NTJ4	MA2C1_HUMAN	960	V	I	Polymorphism	-
Q9NTJ4	MA2C1_HUMAN	323	R	C	Polymorphism	-
Q9NTJ4	MA2C1_HUMAN	950	V	M	Polymorphism	-
Q9NTJ4	MA2C1_HUMAN	975	R	K	Polymorphism	-
Q9NTJ5	SAC1_HUMAN	434	Y	F	Polymorphism	-
Q9NTK1	DEPP1_HUMAN	44	I	M	Polymorphism	-
Q9NTK5	OLA1_HUMAN	168	E	Q	Unclassified	A breast cancer sample
Q9NTM9	CUTC_HUMAN	77	P	L	Unclassified	A breast cancer sample
Q9NTN3	S35D1_HUMAN	82	A	T	Polymorphism	-
Q9NTQ9	CXB4_HUMAN	12	G	D	Disease	Erythrokeratodermia variabilis et progressiva 2 (EKVP2) [MIM:617524]
Q9NTQ9	CXB4_HUMAN	160	R	C	Polymorphism	-
Q9NTQ9	CXB4_HUMAN	124	R	Q	Polymorphism	-
Q9NTQ9	CXB4_HUMAN	22	R	H	Disease	Erythrokeratodermia variabilis et progressiva 2 (EKVP2) [MIM:617524]
Q9NTQ9	CXB4_HUMAN	137	F	L	Disease	Erythrokeratodermia variabilis et progressiva 2 (EKVP2) [MIM:617524]
Q9NTQ9	CXB4_HUMAN	204	E	A	Polymorphism	-
Q9NTQ9	CXB4_HUMAN	103	R	C	Polymorphism	-
Q9NTQ9	CXB4_HUMAN	189	F	Y	Disease	Erythrokeratodermia variabilis et progressiva 2 (EKVP2) [MIM:617524]
Q9NTQ9	CXB4_HUMAN	169	C	W	Polymorphism	-
Q9NTQ9	CXB4_HUMAN	85	T	P	Disease	Erythrokeratodermia variabilis et progressiva 2 (EKVP2) [MIM:617524]
Q9NTU4	CTSRZ_HUMAN	68	P	L	Polymorphism	-
Q9NTW7	ZF64B_HUMAN	139	P	L	Polymorphism	-
Q9NTW7	ZF64B_HUMAN	609	K	N	Unclassified	A breast cancer sample
Q9NTW7	ZF64B_HUMAN	68	Q	P	Polymorphism	-
Q9NTW7	ZF64B_HUMAN	593	D	E	Unclassified	A breast cancer sample
Q9NTX7	RN146_HUMAN	25	C	R	Polymorphism	-
Q9NTX9	F217B_HUMAN	380	Y	C	Polymorphism	-
Q9NTX9	F217B_HUMAN	95	S	G	Unclassified	A breast cancer sample
Q9NTZ6	RBM12_HUMAN	572	N	S	Polymorphism	-
Q9NTZ6	RBM12_HUMAN	921	P	L	Polymorphism	-
Q9NU02	ANKE1_HUMAN	74	P	T	Polymorphism	-
Q9NU02	ANKE1_HUMAN	742	R	Q	Polymorphism	-
Q9NU02	ANKE1_HUMAN	412	G	E	Polymorphism	-
Q9NU02	ANKE1_HUMAN	324	L	Q	Polymorphism	-
Q9NU02	ANKE1_HUMAN	694	K	N	Unclassified	A breast cancer sample
Q9NU22	MDN1_HUMAN	4044	A	S	Polymorphism	-
Q9NU22	MDN1_HUMAN	660	I	V	Polymorphism	-
Q9NU22	MDN1_HUMAN	3004	E	K	Polymorphism	-
Q9NU22	MDN1_HUMAN	4783	D	E	Polymorphism	-
Q9NU22	MDN1_HUMAN	1929	H	D	Polymorphism	-
Q9NU22	MDN1_HUMAN	3986	R	L	Polymorphism	-
Q9NU22	MDN1_HUMAN	1044	A	V	Polymorphism	-
Q9NU22	MDN1_HUMAN	4720	I	T	Polymorphism	-
Q9NU22	MDN1_HUMAN	3794	A	G	Polymorphism	-
Q9NU22	MDN1_HUMAN	3423	H	Y	Polymorphism	-
Q9NU22	MDN1_HUMAN	1559	S	N	Polymorphism	-
Q9NU22	MDN1_HUMAN	4167	A	T	Polymorphism	-
Q9NU22	MDN1_HUMAN	2972	H	P	Polymorphism	-
Q9NU22	MDN1_HUMAN	440	F	V	Polymorphism	-
Q9NU22	MDN1_HUMAN	5251	N	K	Polymorphism	-
Q9NU23	LYRM2_HUMAN	46	K	E	Polymorphism	-
Q9NU23	LYRM2_HUMAN	60	T	P	Polymorphism	-
Q9NU23	LYRM2_HUMAN	34	R	W	Polymorphism	-
Q9NU39	FX4L1_HUMAN	29	V	I	Polymorphism	-
Q9NU63	ZFP57_HUMAN	193	H	N	Disease	Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410]
Q9NU63	ZFP57_HUMAN	114	N	S	Polymorphism	-
Q9NU63	ZFP57_HUMAN	284	D	V	Polymorphism	-
Q9NU63	ZFP57_HUMAN	374	H	D	Disease	Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410]
Q9NU63	ZFP57_HUMAN	166	R	H	Disease	Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410]
Q9NUA8	ZBT40_HUMAN	267	M	I	Polymorphism	-
Q9NUA8	ZBT40_HUMAN	225	A	T	Polymorphism	-
Q9NUA8	ZBT40_HUMAN	997	V	M	Polymorphism	-
Q9NUA8	ZBT40_HUMAN	595	Y	C	Polymorphism	-
Q9NUB1	ACS2L_HUMAN	488	V	M	Polymorphism	-
Q9NUD7	CT096_HUMAN	305	I	F	Polymorphism	-
Q9NUD9	PIGV_HUMAN	341	A	V	Disease	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
Q9NUD9	PIGV_HUMAN	385	H	P	Disease	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
Q9NUD9	PIGV_HUMAN	256	Q	K	Disease	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
Q9NUD9	PIGV_HUMAN	341	A	E	Disease	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
Q9NUJ1	ABHDA_HUMAN	251	I	V	Polymorphism	-
Q9NUJ3	T11L1_HUMAN	178	K	R	Polymorphism	-
Q9NUJ3	T11L1_HUMAN	109	H	Q	Polymorphism	-
Q9NUL3	STAU2_HUMAN	198	V	M	Polymorphism	-
Q9NUL7	DDX28_HUMAN	4	T	A	Polymorphism	-
Q9NUM3	S39A9_HUMAN	285	R	C	Polymorphism	-
Q9NUM3	S39A9_HUMAN	64	E	D	Polymorphism	-
Q9NUM3	S39A9_HUMAN	221	M	T	Polymorphism	-
Q9NUM4	T106B_HUMAN	185	T	S	Polymorphism	-
Q9NUM4	T106B_HUMAN	252	D	N	Disease	Leukodystrophy, hypomyelinating, 16 (HLD16) [MIM:617964]
Q9NUN5	LMBD1_HUMAN	144	T	A	Polymorphism	-
Q9NUN5	LMBD1_HUMAN	469	D	E	Polymorphism	-
Q9NUN5	LMBD1_HUMAN	395	I	V	Polymorphism	-
Q9NUN7	ACER3_HUMAN	33	E	G	Disease	Leukodystrophy, progressive, early childhood-onset (PLDECO) [MIM:617762]
Q9NUP7	TRM13_HUMAN	48	A	V	Polymorphism	-
Q9NUQ2	PLCE_HUMAN	77	Y	C	Polymorphism	-
Q9NUQ3	TXLNG_HUMAN	246	I	V	Polymorphism	-
Q9NUQ7	UFSP2_HUMAN	290	Y	H	Disease	Beukes familial hip dysplasia (BFHD) [MIM:142669]
Q9NUQ7	UFSP2_HUMAN	426	D	A	Disease	Spondyloepimetaphyseal dysplasia, Di Rocco type (SEMDDR) [MIM:617974]
Q9NUQ7	UFSP2_HUMAN	83	N	T	Polymorphism	-
Q9NUQ8	ABCF3_HUMAN	503	P	L	Polymorphism	-
Q9NUQ8	ABCF3_HUMAN	510	R	H	Polymorphism	-
Q9NUQ9	FA49B_HUMAN	169	N	K	Polymorphism	-
Q9NUR3	TM74B_HUMAN	33	L	M	Polymorphism	-
Q9NUT2	ABCB8_HUMAN	165	I	T	Unclassified	A breast cancer sample
Q9NUT2	ABCB8_HUMAN	690	A	G	Unclassified	A breast cancer sample
Q9NUT2	ABCB8_HUMAN	152	V	I	Polymorphism	-
Q9NUU6	OTULL_HUMAN	319	F	L	Polymorphism	-
Q9NUV7	SPTC3_HUMAN	140	L	V	Polymorphism	-
Q9NUV9	GIMA4_HUMAN	128	E	D	Polymorphism	-
Q9NUW8	TYDP1_HUMAN	566	P	L	Polymorphism	-
Q9NUW8	TYDP1_HUMAN	304	R	Q	Polymorphism	-
Q9NUW8	TYDP1_HUMAN	101	P	L	Polymorphism	-
Q9NUW8	TYDP1_HUMAN	134	A	T	Polymorphism	-
Q9NUW8	TYDP1_HUMAN	493	H	R	Disease	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 (SCAN1) [MIM:607250]
Q9NUW8	TYDP1_HUMAN	569	T	A	Polymorphism	-
Q9NUW8	TYDP1_HUMAN	187	D	G	Polymorphism	-
Q9NUW8	TYDP1_HUMAN	95	E	D	Polymorphism	-
Q9NUX5	POTE1_HUMAN	529	V	M	Polymorphism	-
Q9NUX5	POTE1_HUMAN	137	R	H	Disease	Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
Q9NUX5	POTE1_HUMAN	623	Q	H	Disease	Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
Q9NUX5	POTE1_HUMAN	95	G	C	Disease	Glioma 9 (GLM9) [MIM:616568]
Q9NUX5	POTE1_HUMAN	532	A	P	Disease	Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
Q9NUX5	POTE1_HUMAN	89	Y	C	Disease	Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
Q9NUX5	POTE1_HUMAN	94	Q	E	Disease	Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
Q9NUX5	POTE1_HUMAN	273	R	L	Disease	Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
Q9NUX5	POTE1_HUMAN	270	S	N	Disease	Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
Q9NUX5	POTE1_HUMAN	224	D	N	Disease	Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
Q9NUY8	TBC23_HUMAN	518	R	Q	Unclassified	Pontocerebellar hypoplasia 11 (PCH11) [MIM:617695]
Q9NUZ1	ACOXL_HUMAN	535	P	L	Polymorphism	-
Q9NUZ1	ACOXL_HUMAN	255	T	M	Polymorphism	-
Q9NV06	DCA13_HUMAN	42	I	V	Polymorphism	-
Q9NV06	DCA13_HUMAN	70	N	S	Polymorphism	-
Q9NV12	TM140_HUMAN	7	R	Q	Polymorphism	-
Q9NV12	TM140_HUMAN	11	Q	E	Polymorphism	-
Q9NV12	TM140_HUMAN	112	A	E	Unclassified	A colorectal cancer sample
Q9NV12	TM140_HUMAN	29	F	L	Polymorphism	-
Q9NV12	TM140_HUMAN	6	P	S	Polymorphism	-
Q9NV35	NUD15_HUMAN	139	R	H	Polymorphism	-
Q9NV35	NUD15_HUMAN	18	V	I	Polymorphism	-
Q9NV35	NUD15_HUMAN	139	R	C	Polymorphism	-
Q9NV39	PRR34_HUMAN	28	P	L	Polymorphism	-
Q9NV39	PRR34_HUMAN	137	Q	R	Polymorphism	-
Q9NV44	CU077_HUMAN	2	E	G	Polymorphism	-
Q9NV58	RN19A_HUMAN	835	Q	H	Polymorphism	-
Q9NV64	TM39A_HUMAN	247	S	L	Unclassified	A breast cancer sample
Q9NV64	TM39A_HUMAN	487	A	T	Polymorphism	-
Q9NV66	TYW1_HUMAN	632	H	R	Polymorphism	-
Q9NV66	TYW1_HUMAN	462	G	V	Polymorphism	-
Q9NV66	TYW1_HUMAN	671	D	N	Polymorphism	-
Q9NV72	ZN701_HUMAN	185	L	V	Polymorphism	-
Q9NV72	ZN701_HUMAN	495	R	H	Polymorphism	-
Q9NV72	ZN701_HUMAN	70	L	P	Polymorphism	-
Q9NV72	ZN701_HUMAN	337	T	K	Polymorphism	-
Q9NV72	ZN701_HUMAN	182	T	I	Polymorphism	-
Q9NV72	ZN701_HUMAN	306	D	E	Polymorphism	-
Q9NV72	ZN701_HUMAN	521	R	C	Polymorphism	-
Q9NV92	NFIP2_HUMAN	124	P	S	Polymorphism	-
Q9NV92	NFIP2_HUMAN	136	A	V	Polymorphism	-
Q9NVA1	UQCC1_HUMAN	85	P	L	Polymorphism	-
Q9NVA1	UQCC1_HUMAN	44	W	S	Unclassified	A breast cancer sample
Q9NVA1	UQCC1_HUMAN	51	R	Q	Polymorphism	-
Q9NVC3	S38A7_HUMAN	78	T	I	Polymorphism	-
Q9NVC3	S38A7_HUMAN	46	L	P	Polymorphism	-
Q9NVC6	MED17_HUMAN	371	L	P	Disease	Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA) [MIM:613668]
Q9NVC6	MED17_HUMAN	69	E	D	Polymorphism	-
Q9NVC6	MED17_HUMAN	357	F	L	Polymorphism	-
Q9NVD3	SETD4_HUMAN	387	I	V	Polymorphism	-
Q9NVD3	SETD4_HUMAN	420	E	G	Unclassified	A colorectal cancer sample
Q9NVE4	CCD87_HUMAN	217	F	L	Polymorphism	-
Q9NVE4	CCD87_HUMAN	156	A	T	Polymorphism	-
Q9NVE5	UBP40_HUMAN	1025	T	M	Polymorphism	-
Q9NVE5	UBP40_HUMAN	666	V	A	Polymorphism	-
Q9NVE5	UBP40_HUMAN	1111	R	C	Polymorphism	-
Q9NVE7	PANK4_HUMAN	547	A	V	Polymorphism	-
Q9NVE7	PANK4_HUMAN	684	Q	R	Polymorphism	-
Q9NVE7	PANK4_HUMAN	475	E	K	Unclassified	A colorectal cancer sample
Q9NVF7	FBX28_HUMAN	345	P	H	Unclassified	-
Q9NVF9	EKI2_HUMAN	227	R	Q	Polymorphism	-
Q9NVG8	TBC13_HUMAN	190	V	A	Polymorphism	-
Q9NVH0	EXD2_HUMAN	231	D	N	Polymorphism	-
Q9NVH0	EXD2_HUMAN	518	Q	H	Polymorphism	-
Q9NVH1	DJC11_HUMAN	267	V	M	Polymorphism	-
Q9NVH1	DJC11_HUMAN	290	T	A	Polymorphism	-
Q9NVH1	DJC11_HUMAN	290	T	S	Polymorphism	-
Q9NVH2	INT7_HUMAN	425	H	R	Polymorphism	-
Q9NVH6	TMLH_HUMAN	369	E	D	Unclassified	Autism, X-linked 6 (AUTSX6) [MIM:300872]
Q9NVH6	TMLH_HUMAN	244	D	H	Disease	Autism, X-linked 6 (AUTSX6) [MIM:300872]
Q9NVI1	FANCI_HUMAN	858	H	Y	Disease	Fanconi anemia complementation group I (FANCI) [MIM:609053]
Q9NVI1	FANCI_HUMAN	55	P	L	Unclassified	Fanconi anemia complementation group I (FANCI) [MIM:609053]
Q9NVI1	FANCI_HUMAN	742	C	S	Polymorphism	-
Q9NVI1	FANCI_HUMAN	686	Q	K	Polymorphism	-
Q9NVI1	FANCI_HUMAN	86	A	V	Polymorphism	-
Q9NVI1	FANCI_HUMAN	1285	R	Q	Disease	Fanconi anemia complementation group I (FANCI) [MIM:609053]
Q9NVI7	ATD3A_HUMAN	101	S	N	Polymorphism	-
Q9NVI7	ATD3A_HUMAN	15	G	D	Polymorphism	-
Q9NVL1	FA86C_HUMAN	30	R	P	Polymorphism	-
Q9NVL1	FA86C_HUMAN	135	P	L	Polymorphism	-
Q9NVL1	FA86C_HUMAN	70	V	A	Polymorphism	-
Q9NVL1	FA86C_HUMAN	7	A	S	Polymorphism	-
Q9NVL8	CC198_HUMAN	235	Y	C	Polymorphism	-
Q9NVM4	ANM7_HUMAN	32	R	T	Disease	Short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) [MIM:617157]
Q9NVM4	ANM7_HUMAN	387	R	G	Disease	Short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) [MIM:617157]
Q9NVM4	ANM7_HUMAN	494	W	R	Disease	Short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) [MIM:617157]
Q9NVM9	INT13_HUMAN	66	M	T	Polymorphism	-
Q9NVM9	INT13_HUMAN	227	S	P	Unclassified	A colorectal cancer sample
Q9NVN8	GNL3L_HUMAN	320	R	H	Polymorphism	-
Q9NVP1	DDX18_HUMAN	41	G	R	Unclassified	A breast cancer sample
Q9NVP1	DDX18_HUMAN	647	K	R	Polymorphism	-
Q9NVP1	DDX18_HUMAN	94	T	S	Polymorphism	-
Q9NVQ4	FAIM1_HUMAN	127	L	S	Polymorphism	-
Q9NVQ4	FAIM1_HUMAN	117	A	T	Polymorphism	-
Q9NVR5	KTU_HUMAN	768	D	G	Polymorphism	-
Q9NVR5	KTU_HUMAN	62	E	D	Polymorphism	-
Q9NVR7	TBCC1_HUMAN	149	K	R	Polymorphism	-
Q9NVS9	PNPO_HUMAN	229	R	Q	Disease	Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090]
Q9NVS9	PNPO_HUMAN	225	R	H	Disease	Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090]
Q9NVS9	PNPO_HUMAN	229	R	W	Disease	Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090]
Q9NVS9	PNPO_HUMAN	50	E	K	Polymorphism	-
Q9NVS9	PNPO_HUMAN	116	R	Q	Polymorphism	-
Q9NVU0	RPC5_HUMAN	46	S	A	Polymorphism	-
Q9NVU7	SDA1_HUMAN	490	A	D	Polymorphism	-
Q9NVU7	SDA1_HUMAN	258	K	Q	Polymorphism	-
Q9NVU7	SDA1_HUMAN	575	S	C	Polymorphism	-
Q9NVU7	SDA1_HUMAN	660	V	I	Polymorphism	-
Q9NVV0	TM38B_HUMAN	254	C	S	Polymorphism	-
Q9NVV2	CS073_HUMAN	106	S	G	Polymorphism	-
Q9NVV4	PAPD1_HUMAN	221	Y	H	Polymorphism	-
Q9NVV4	PAPD1_HUMAN	419	C	R	Polymorphism	-
Q9NVV4	PAPD1_HUMAN	162	R	C	Polymorphism	-
Q9NVV4	PAPD1_HUMAN	478	N	D	Disease	Spastic ataxia 4, autosomal recessive (SPAX4) [MIM:613672]
Q9NVV4	PAPD1_HUMAN	546	S	N	Polymorphism	-
Q9NVV5	AIG1_HUMAN	151	Q	E	Polymorphism	-
Q9NVV9	THAP1_HUMAN	83	C	R	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	75	N	I	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	174	E	G	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	180	L	S	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	54	C	F	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	72	L	R	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	81	F	L	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	170	C	R	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	6	S	F	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	57	H	N	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	17	D	G	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	24	K	E	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	23	H	P	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	26	P	R	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	149	I	T	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	80	I	V	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	8	Y	C	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	29	R	P	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	192	D	N	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	177	L	P	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	21	S	C	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	29	R	Q	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	143	M	V	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	30	P	R	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	166	A	T	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	9	G	C	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	13	R	H	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	16	K	E	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	132	F	S	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	56	E	G	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	32	L	H	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	7	A	D	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	150	H	P	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	187	Q	K	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	6	S	P	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	59	T	I	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	169	R	Q	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	137	Y	C	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	26	P	L	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	39	A	T	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	136	N	K	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	21	S	T	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	136	N	S	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	89	K	R	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVV9	THAP1_HUMAN	12	N	K	Disease	Dystonia 6, torsion (DYT6) [MIM:602629]
Q9NVW2	RNF12_HUMAN	387	R	C	Disease	Tonne-Kalscheuer syndrome (TOKAS) [MIM:300978]
Q9NVW2	RNF12_HUMAN	590	H	P	Polymorphism	-
Q9NVW2	RNF12_HUMAN	599	R	C	Disease	Tonne-Kalscheuer syndrome (TOKAS) [MIM:300978]
Q9NVW2	RNF12_HUMAN	587	P	R	Disease	Tonne-Kalscheuer syndrome (TOKAS) [MIM:300978]
Q9NVW2	RNF12_HUMAN	356	Y	C	Disease	Tonne-Kalscheuer syndrome (TOKAS) [MIM:300978]
Q9NVX0	HAUS2_HUMAN	76	T	P	Polymorphism	-
Q9NVX2	NLE1_HUMAN	319	Q	K	Unclassified	A breast cancer sample
Q9NVX2	NLE1_HUMAN	6	P	A	Polymorphism	-
Q9NVX2	NLE1_HUMAN	406	Y	H	Polymorphism	-
Q9NVX2	NLE1_HUMAN	434	S	N	Polymorphism	-
Q9NVX2	NLE1_HUMAN	169	R	K	Polymorphism	-
Q9NVX7	KBTB4_HUMAN	330	D	N	Polymorphism	-
Q9NVZ3	NECP2_HUMAN	149	D	A	Polymorphism	-
Q9NW07	ZN358_HUMAN	32	N	S	Polymorphism	-
Q9NW08	RPC2_HUMAN	926	D	E	Disease	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
Q9NW08	RPC2_HUMAN	740	T	A	Polymorphism	-
Q9NW08	RPC2_HUMAN	442	R	C	Disease	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
Q9NW08	RPC2_HUMAN	527	C	R	Disease	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
Q9NW08	RPC2_HUMAN	104	L	F	Disease	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
Q9NW08	RPC2_HUMAN	523	V	E	Disease	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
Q9NW08	RPC2_HUMAN	768	R	H	Disease	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
Q9NW08	RPC2_HUMAN	268	S	G	Disease	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
Q9NW08	RPC2_HUMAN	503	T	K	Disease	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
Q9NW13	RBM28_HUMAN	351	L	P	Disease	Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) [MIM:612079]
Q9NW13	RBM28_HUMAN	253	E	Q	Polymorphism	-
Q9NW15	ANO10_HUMAN	561	T	M	Polymorphism	-
Q9NW15	ANO10_HUMAN	510	L	R	Disease	Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10) [MIM:613728]
Q9NW15	ANO10_HUMAN	462	R	Q	Polymorphism	-
Q9NW15	ANO10_HUMAN	583	V	A	Polymorphism	-
Q9NW38	FANCL_HUMAN	144	S	F	Polymorphism	-
Q9NW81	DMAC2_HUMAN	9	R	C	Polymorphism	-
Q9NW81	DMAC2_HUMAN	230	E	K	Polymorphism	-
Q9NW81	DMAC2_HUMAN	34	N	S	Polymorphism	-
Q9NW81	DMAC2_HUMAN	23	H	R	Polymorphism	-
Q9NW81	DMAC2_HUMAN	159	C	S	Polymorphism	-
Q9NW97	TMM51_HUMAN	92	R	Q	Polymorphism	-
Q9NW97	TMM51_HUMAN	34	V	A	Polymorphism	-
Q9NWF4	S52A1_HUMAN	386	L	V	Polymorphism	-
Q9NWF4	S52A1_HUMAN	296	V	M	Polymorphism	-
Q9NWF4	S52A1_HUMAN	70	Q	R	Polymorphism	-
Q9NWF4	S52A1_HUMAN	271	A	V	Polymorphism	-
Q9NWF9	RN216_HUMAN	660	R	C	Disease	Gordon Holmes syndrome (GDHS) [MIM:212840]
Q9NWF9	RN216_HUMAN	694	R	C	Disease	Gordon Holmes syndrome (GDHS) [MIM:212840]
Q9NWH7	SPAT6_HUMAN	478	C	Y	Polymorphism	-
Q9NWH7	SPAT6_HUMAN	478	C	S	Polymorphism	-
Q9NWH7	SPAT6_HUMAN	478	C	F	Polymorphism	-
Q9NWH7	SPAT6_HUMAN	333	R	W	Polymorphism	-
Q9NWH9	SLTM_HUMAN	235	V	L	Polymorphism	-
Q9NWK9	BCD1_HUMAN	455	L	H	Unclassified	A colorectal cancer sample
Q9NWK9	BCD1_HUMAN	9	G	R	Polymorphism	-
Q9NWL6	ASND1_HUMAN	190	G	R	Polymorphism	-
Q9NWL6	ASND1_HUMAN	434	M	T	Polymorphism	-
Q9NWM0	SMOX_HUMAN	522	H	Y	Polymorphism	-
Q9NWM0	SMOX_HUMAN	301	R	P	Polymorphism	-
Q9NWM0	SMOX_HUMAN	340	Q	K	Unclassified	A breast cancer sample
Q9NWM3	CUED1_HUMAN	316	R	Q	Polymorphism	-
Q9NWM3	CUED1_HUMAN	205	P	S	Polymorphism	-
Q9NWM3	CUED1_HUMAN	169	R	H	Polymorphism	-
Q9NWN3	FBX34_HUMAN	704	G	V	Polymorphism	-
Q9NWN3	FBX34_HUMAN	533	L	P	Polymorphism	-
Q9NWN3	FBX34_HUMAN	470	I	N	Polymorphism	-
Q9NWN3	FBX34_HUMAN	432	V	A	Polymorphism	-
Q9NWQ4	GPT2L_HUMAN	132	V	E	Polymorphism	-
Q9NWQ9	CN119_HUMAN	16	L	V	Polymorphism	-
Q9NWR8	MCUB_HUMAN	255	I	V	Polymorphism	-
Q9NWR8	MCUB_HUMAN	63	I	N	Polymorphism	-
Q9NWR8	MCUB_HUMAN	253	Y	F	Polymorphism	-
Q9NWS0	PIHD1_HUMAN	224	V	I	Polymorphism	-
Q9NWS0	PIHD1_HUMAN	10	G	E	Polymorphism	-
Q9NWS0	PIHD1_HUMAN	9	M	L	Polymorphism	-
Q9NWS0	PIHD1_HUMAN	287	P	L	Polymorphism	-
Q9NWS0	PIHD1_HUMAN	230	D	E	Polymorphism	-
Q9NWS1	PARI_HUMAN	400	V	M	Polymorphism	-
Q9NWS6	F118A_HUMAN	129	V	L	Polymorphism	-
Q9NWS6	F118A_HUMAN	239	R	H	Polymorphism	-
Q9NWS8	RMND1_HUMAN	42	S	I	Polymorphism	-
Q9NWS8	RMND1_HUMAN	417	R	Q	Disease	Combined oxidative phosphorylation deficiency 11 (COXPD11) [MIM:614922]
Q9NWS8	RMND1_HUMAN	132	T	M	Polymorphism	-
Q9NWS8	RMND1_HUMAN	47	R	H	Polymorphism	-
Q9NWS9	ZN446_HUMAN	387	R	H	Polymorphism	-
Q9NWS9	ZN446_HUMAN	192	N	H	Polymorphism	-
Q9NWS9	ZN446_HUMAN	300	P	S	Polymorphism	-
Q9NWT6	HIF1N_HUMAN	41	P	A	Polymorphism	-
Q9NWT8	AKIP_HUMAN	107	Q	H	Polymorphism	-
Q9NWU1	OXSM_HUMAN	106	F	I	Unclassified	A breast cancer sample
Q9NWU5	RM22_HUMAN	154	G	S	Polymorphism	-
Q9NWW0	HPIP_HUMAN	92	P	Q	Polymorphism	-
Q9NWW5	CLN6_HUMAN	149	R	H	Disease	Ceroid lipofuscinosis, neuronal, 4A (CLN4A) [MIM:204300]
Q9NWW5	CLN6_HUMAN	12	A	T	Polymorphism	-
Q9NWW5	CLN6_HUMAN	299	P	L	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	34	A	T	Polymorphism	-
Q9NWW5	CLN6_HUMAN	159	P	L	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	241	M	T	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	221	Y	C	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	149	R	C	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	238	F	T	Disease	Ceroid lipofuscinosis, neuronal, 4A (CLN4A) [MIM:204300]
Q9NWW5	CLN6_HUMAN	297	P	T	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	103	R	Q	Disease	Ceroid lipofuscinosis, neuronal, 4A (CLN4A) [MIM:204300]
Q9NWW5	CLN6_HUMAN	123	G	D	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	169	L	P	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	62	R	H	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	6	R	T	Disease	Ceroid lipofuscinosis, neuronal, 4A (CLN4A) [MIM:204300]
Q9NWW5	CLN6_HUMAN	308	S	T	Polymorphism	-
Q9NWW5	CLN6_HUMAN	186	F	S	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	47	L	F	Disease	Ceroid lipofuscinosis, neuronal, 4A (CLN4A) [MIM:204300]
Q9NWW5	CLN6_HUMAN	221	Y	S	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	67	L	P	Disease	Ceroid lipofuscinosis, neuronal, 4A (CLN4A) [MIM:204300]
Q9NWW5	CLN6_HUMAN	90	N	K	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	17	G	S	Unclassified	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	104	S	F	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	77	N	K	Disease	Ceroid lipofuscinosis, neuronal, 4A (CLN4A) [MIM:204300]
Q9NWW5	CLN6_HUMAN	234	F	L	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	252	R	H	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	259	G	S	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW5	CLN6_HUMAN	72	E	Q	Polymorphism	-
Q9NWW5	CLN6_HUMAN	300	W	R	Disease	Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]
Q9NWW7	CB042_HUMAN	314	Q	P	Polymorphism	-
Q9NWX6	THG1_HUMAN	232	L	P	Polymorphism	-
Q9NWY4	HPF1_HUMAN	174	R	K	Polymorphism	-
Q9NWY4	HPF1_HUMAN	331	E	D	Polymorphism	-
Q9NWZ3	IRAK4_HUMAN	355	M	V	Polymorphism	-
Q9NWZ3	IRAK4_HUMAN	5	I	V	Polymorphism	-
Q9NWZ3	IRAK4_HUMAN	390	H	R	Polymorphism	-
Q9NWZ3	IRAK4_HUMAN	39	I	V	Polymorphism	-
Q9NWZ3	IRAK4_HUMAN	428	A	T	Polymorphism	-
Q9NWZ3	IRAK4_HUMAN	12	R	C	Disease	IRAK4 deficiency (IRAK4D) [MIM:607676]
Q9NWZ3	IRAK4_HUMAN	298	G	D	Disease	IRAK4 deficiency (IRAK4D) [MIM:607676]
Q9NWZ3	IRAK4_HUMAN	26	I	T	Polymorphism	-
Q9NWZ3	IRAK4_HUMAN	391	R	H	Polymorphism	-
Q9NWZ3	IRAK4_HUMAN	20	R	W	Polymorphism	-
Q9NWZ3	IRAK4_HUMAN	98	S	R	Polymorphism	-
Q9NWZ8	GEMI8_HUMAN	195	E	V	Polymorphism	-
Q9NX00	TM160_HUMAN	120	G	S	Polymorphism	-
Q9NX02	NALP2_HUMAN	516	T	A	Polymorphism	-
Q9NX02	NALP2_HUMAN	884	G	R	Polymorphism	-
Q9NX02	NALP2_HUMAN	221	T	M	Polymorphism	-
Q9NX02	NALP2_HUMAN	1052	A	E	Polymorphism	-
Q9NX02	NALP2_HUMAN	522	E	G	Polymorphism	-
Q9NX02	NALP2_HUMAN	529	T	A	Polymorphism	-
Q9NX02	NALP2_HUMAN	302	E	Q	Polymorphism	-
Q9NX02	NALP2_HUMAN	364	R	K	Polymorphism	-
Q9NX05	F120C_HUMAN	934	M	I	Polymorphism	-
Q9NX05	F120C_HUMAN	82	I	T	Polymorphism	-
Q9NX08	COMD8_HUMAN	17	A	P	Polymorphism	-
Q9NX14	NDUBB_HUMAN	121	E	K	Disease	Mitochondrial complex I deficiency, nuclear type 30 (MC1DN30) [MIM:301021]
Q9NX18	SDHF2_HUMAN	78	G	R	Disease	Paragangliomas 2 (PGL2) [MIM:601650]
Q9NX20	RM16_HUMAN	199	R	Q	Polymorphism	-
Q9NX20	RM16_HUMAN	29	G	S	Polymorphism	-
Q9NX20	RM16_HUMAN	207	R	C	Polymorphism	-
Q9NX24	NHP2_HUMAN	118	A	T	Polymorphism	-
Q9NX24	NHP2_HUMAN	126	V	M	Disease	Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987]
Q9NX24	NHP2_HUMAN	139	Y	H	Disease	Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987]
Q9NX31	OSER1_HUMAN	74	V	G	Polymorphism	-
Q9NX45	SOLH2_HUMAN	339	A	T	Polymorphism	-
Q9NX45	SOLH2_HUMAN	14	S	L	Polymorphism	-
Q9NX46	ARHL2_HUMAN	34	D	N	Unclassified	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
Q9NX46	ARHL2_HUMAN	79	T	P	Disease	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
Q9NX46	ARHL2_HUMAN	209	E	K	Polymorphism	-
Q9NX46	ARHL2_HUMAN	177	S	L	Unclassified	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
Q9NX46	ARHL2_HUMAN	335	V	G	Disease	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
Q9NX52	RHBL2_HUMAN	273	L	M	Polymorphism	-
Q9NX55	HYPK_HUMAN	105	S	P	Polymorphism	-
Q9NX57	RAB20_HUMAN	134	N	S	Polymorphism	-
Q9NX58	LYAR_HUMAN	151	D	Y	Polymorphism	-
Q9NX58	LYAR_HUMAN	265	H	R	Polymorphism	-
Q9NX61	T161A_HUMAN	85	E	V	Unclassified	A breast cancer sample
Q9NX62	IMPA3_HUMAN	177	D	N	Disease	Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078]
Q9NX62	IMPA3_HUMAN	183	T	P	Disease	Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078]
Q9NX65	ZSC32_HUMAN	332	Y	H	Polymorphism	-
Q9NX65	ZSC32_HUMAN	266	A	V	Polymorphism	-
Q9NX76	CKLF6_HUMAN	91	T	A	Polymorphism	-
Q9NX78	TM260_HUMAN	565	S	N	Polymorphism	-
Q9NX78	TM260_HUMAN	245	A	S	Polymorphism	-
Q9NX94	WBP1L_HUMAN	320	A	S	Polymorphism	-
Q9NX94	WBP1L_HUMAN	302	S	P	Polymorphism	-
Q9NXA8	SIR5_HUMAN	305	E	G	Polymorphism	-
Q9NXA8	SIR5_HUMAN	285	F	L	Polymorphism	-
Q9NXB0	MKS1_HUMAN	39	L	F	Polymorphism	-
Q9NXB0	MKS1_HUMAN	166	R	W	Unclassified	Meckel syndrome 1 (MKS1) [MIM:249000]
Q9NXB0	MKS1_HUMAN	317	G	E	Unclassified	Meckel syndrome 1 (MKS1) [MIM:249000]
Q9NXB0	MKS1_HUMAN	450	I	T	Polymorphism	-
Q9NXB0	MKS1_HUMAN	403	S	L	Unclassified	Meckel syndrome 1 (MKS1) [MIM:249000]
Q9NXB0	MKS1_HUMAN	123	R	Q	Polymorphism	-
Q9NXB0	MKS1_HUMAN	492	C	W	Disease	Bardet-Biedl syndrome 13 (BBS13) [MIM:615990]
Q9NXB0	MKS1_HUMAN	80	W	C	Unclassified	-
Q9NXB0	MKS1_HUMAN	19	D	Y	Disease	Meckel syndrome 1 (MKS1) [MIM:249000]
Q9NXB0	MKS1_HUMAN	421	P	S	Unclassified	Meckel syndrome 1 (MKS1) [MIM:249000]
Q9NXB0	MKS1_HUMAN	286	D	G	Polymorphism	-
Q9NXB9	ELOV2_HUMAN	225	V	M	Polymorphism	-
Q9NXB9	ELOV2_HUMAN	216	T	A	Polymorphism	-
Q9NXD2	MTMRA_HUMAN	648	R	H	Polymorphism	-
Q9NXF7	DCA16_HUMAN	129	T	I	Polymorphism	-
Q9NXF7	DCA16_HUMAN	45	N	S	Polymorphism	-
Q9NXF8	ZDHC7_HUMAN	201	V	I	Polymorphism	-
Q9NXF8	ZDHC7_HUMAN	44	D	N	Unclassified	A colorectal cancer sample
Q9NXG0	CNTLN_HUMAN	695	T	I	Polymorphism	-
Q9NXG0	CNTLN_HUMAN	562	R	C	Polymorphism	-
Q9NXG0	CNTLN_HUMAN	284	T	A	Polymorphism	-
Q9NXG0	CNTLN_HUMAN	1376	T	A	Polymorphism	-
Q9NXG0	CNTLN_HUMAN	291	E	D	Polymorphism	-
Q9NXG2	THUM1_HUMAN	311	E	D	Polymorphism	-
Q9NXI6	RN186_HUMAN	23	A	T	Polymorphism	-
Q9NXI6	RN186_HUMAN	208	P	T	Polymorphism	-
Q9NXJ0	M4A12_HUMAN	10	A	D	Polymorphism	-
Q9NXK6	PAQR5_HUMAN	24	I	T	Polymorphism	-
Q9NXK8	FXL12_HUMAN	63	L	H	Unclassified	-
Q9NXL2	ARH38_HUMAN	67	K	N	Unclassified	A breast cancer sample
Q9NXL2	ARH38_HUMAN	88	M	V	Polymorphism	-
Q9NXL6	SIDT1_HUMAN	78	V	M	Polymorphism	-
Q9NXL6	SIDT1_HUMAN	363	T	I	Polymorphism	-
Q9NXL6	SIDT1_HUMAN	3	G	S	Polymorphism	-
Q9NXN4	GDAP2_HUMAN	312	Q	P	Polymorphism	-
Q9NXN4	GDAP2_HUMAN	106	G	S	Polymorphism	-
Q9NXN4	GDAP2_HUMAN	489	T	A	Polymorphism	-
Q9NXN4	GDAP2_HUMAN	95	P	R	Polymorphism	-
Q9NXP7	GIN1_HUMAN	22	G	C	Polymorphism	-
Q9NXP7	GIN1_HUMAN	239	T	M	Polymorphism	-
Q9NXR5	ANR10_HUMAN	320	P	L	Polymorphism	-
Q9NXR8	ING3_HUMAN	20	D	G	Disease	Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]
Q9NXS2	QPCTL_HUMAN	214	P	L	Polymorphism	-
Q9NXS3	KLH28_HUMAN	349	I	V	Polymorphism	-
Q9NXW2	DJB12_HUMAN	304	E	K	Polymorphism	-
Q9NXW9	ALKB4_HUMAN	247	A	V	Polymorphism	-
Q9NXX6	NSE4A_HUMAN	72	S	T	Polymorphism	-
Q9NXZ1	SAGE1_HUMAN	741	N	K	Polymorphism	-
Q9NXZ1	SAGE1_HUMAN	805	L	S	Polymorphism	-
Q9NXZ2	DDX43_HUMAN	625	K	E	Polymorphism	-
Q9NXZ2	DDX43_HUMAN	629	Q	R	Polymorphism	-
Q9NY15	STAB1_HUMAN	2506	M	T	Polymorphism	-
Q9NY15	STAB1_HUMAN	2282	I	V	Polymorphism	-
Q9NY15	STAB1_HUMAN	1833	A	P	Polymorphism	-
Q9NY15	STAB1_HUMAN	1127	G	R	Polymorphism	-
Q9NY15	STAB1_HUMAN	672	L	M	Polymorphism	-
Q9NY15	STAB1_HUMAN	912	M	V	Polymorphism	-
Q9NY25	CLC5A_HUMAN	141	R	H	Polymorphism	-
Q9NY27	PP4R2_HUMAN	174	P	L	Polymorphism	-
Q9NY27	PP4R2_HUMAN	282	S	C	Polymorphism	-
Q9NY28	GALT8_HUMAN	515	V	F	Polymorphism	-
Q9NY28	GALT8_HUMAN	53	Y	D	Polymorphism	-
Q9NY28	GALT8_HUMAN	267	E	G	Polymorphism	-
Q9NY28	GALT8_HUMAN	312	F	S	Polymorphism	-
Q9NY28	GALT8_HUMAN	611	V	M	Polymorphism	-
Q9NY28	GALT8_HUMAN	53	Y	N	Polymorphism	-
Q9NY28	GALT8_HUMAN	337	A	V	Polymorphism	-
Q9NY28	GALT8_HUMAN	234	E	K	Polymorphism	-
Q9NY28	GALT8_HUMAN	438	D	G	Polymorphism	-
Q9NY28	GALT8_HUMAN	630	D	G	Polymorphism	-
Q9NY33	DPP3_HUMAN	76	R	H	Polymorphism	-
Q9NY33	DPP3_HUMAN	678	R	H	Polymorphism	-
Q9NY33	DPP3_HUMAN	690	E	K	Polymorphism	-
Q9NY33	DPP3_HUMAN	145	Q	H	Polymorphism	-
Q9NY46	SCN3A_HUMAN	875	I	T	Disease	Epileptic encephalopathy, early infantile, 62 (EIEE62) [MIM:617938]
Q9NY46	SCN3A_HUMAN	1333	P	L	Disease	Epileptic encephalopathy, early infantile, 62 (EIEE62) [MIM:617938]
Q9NY46	SCN3A_HUMAN	1160	E	K	Disease	Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935]
Q9NY46	SCN3A_HUMAN	1084	V	I	Polymorphism	-
Q9NY46	SCN3A_HUMAN	815	D	N	Unclassified	Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935]
Q9NY46	SCN3A_HUMAN	1769	V	A	Disease	Epileptic encephalopathy, early infantile, 62 (EIEE62) [MIM:617938]
Q9NY46	SCN3A_HUMAN	1799	K	Q	Unclassified	Epileptic encephalopathy, early infantile, 62 (EIEE62) [MIM:617938]
Q9NY46	SCN3A_HUMAN	606	S	T	Polymorphism	-
Q9NY46	SCN3A_HUMAN	1642	R	C	Unclassified	Epileptic encephalopathy, early infantile, 62 (EIEE62) [MIM:617938]
Q9NY46	SCN3A_HUMAN	1107	V	A	Polymorphism	-
Q9NY46	SCN3A_HUMAN	357	R	Q	Disease	Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935]
Q9NY46	SCN3A_HUMAN	247	L	P	Disease	Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935]
Q9NY46	SCN3A_HUMAN	1803	D	N	Polymorphism	-
Q9NY46	SCN3A_HUMAN	1813	L	S	Polymorphism	-
Q9NY46	SCN3A_HUMAN	1372	M	V	Unclassified	Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935]
Q9NY47	CA2D2_HUMAN	138	A	V	Polymorphism	-
Q9NY47	CA2D2_HUMAN	334	E	K	Polymorphism	-
Q9NY56	OBP2A_HUMAN	61	N	K	Polymorphism	-
Q9NY56	OBP2A_HUMAN	133	P	S	Polymorphism	-
Q9NY56	OBP2A_HUMAN	159	M	T	Polymorphism	-
Q9NY56	OBP2A_HUMAN	130	G	A	Polymorphism	-
Q9NY57	ST32B_HUMAN	198	R	G	Polymorphism	-
Q9NY57	ST32B_HUMAN	35	G	E	Unclassified	A metastatic melanoma sample
Q9NY57	ST32B_HUMAN	342	K	T	Polymorphism	-
Q9NY57	ST32B_HUMAN	310	D	V	Polymorphism	-
Q9NY57	ST32B_HUMAN	244	R	H	Polymorphism	-
Q9NY64	GTR8_HUMAN	253	I	T	Polymorphism	-
Q9NY65	TBA8_HUMAN	128	A	V	Polymorphism	-
Q9NY65	TBA8_HUMAN	301	Q	R	Polymorphism	-
Q9NY72	SCN3B_HUMAN	97	S	N	Polymorphism	-
Q9NY72	SCN3B_HUMAN	89	Q	L	Unclassified	A colorectal cancer sample
Q9NY72	SCN3B_HUMAN	6	R	K	Disease	Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120]
Q9NY72	SCN3B_HUMAN	130	A	V	Disease	Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120]
Q9NY72	SCN3B_HUMAN	161	M	T	Disease	Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120]
Q9NY72	SCN3B_HUMAN	10	L	P	Unclassified	-
Q9NY72	SCN3B_HUMAN	54	V	G	Unclassified	-
Q9NY72	SCN3B_HUMAN	195	A	T	Unclassified	A colorectal cancer sample
Q9NY74	ETAA1_HUMAN	50	E	D	Unclassified	A colorectal cancer sample
Q9NY74	ETAA1_HUMAN	771	P	S	Polymorphism	-
Q9NY74	ETAA1_HUMAN	221	M	T	Polymorphism	-
Q9NY74	ETAA1_HUMAN	389	S	N	Polymorphism	-
Q9NY74	ETAA1_HUMAN	715	P	L	Polymorphism	-
Q9NY84	VNN3_HUMAN	222	V	A	Polymorphism	-
Q9NY84	VNN3_HUMAN	33	H	R	Polymorphism	-
Q9NY84	VNN3_HUMAN	89	T	A	Polymorphism	-
Q9NY84	VNN3_HUMAN	91	E	K	Polymorphism	-
Q9NY87	SPNXC_HUMAN	59	V	F	Polymorphism	-
Q9NY91	SC5A4_HUMAN	4	T	M	Polymorphism	-
Q9NY91	SC5A4_HUMAN	46	A	T	Polymorphism	-
Q9NY99	SNTG2_HUMAN	391	I	V	Polymorphism	-
Q9NY99	SNTG2_HUMAN	200	S	L	Polymorphism	-
Q9NY99	SNTG2_HUMAN	168	S	Y	Polymorphism	-
Q9NYA3	GOG6A_HUMAN	200	W	R	Polymorphism	-
Q9NYA4	MTMR4_HUMAN	297	V	G	Polymorphism	-
Q9NYA4	MTMR4_HUMAN	280	S	G	Polymorphism	-
Q9NYA4	MTMR4_HUMAN	170	L	V	Polymorphism	-
Q9NYB0	TE2IP_HUMAN	324	K	E	Polymorphism	-
Q9NYC9	DYH9_HUMAN	1881	K	E	Disease	Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300]
Q9NYC9	DYH9_HUMAN	4462	W	R	Polymorphism	-
Q9NYC9	DYH9_HUMAN	1674	G	R	Unclassified	Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300]
Q9NYC9	DYH9_HUMAN	2965	R	H	Disease	Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300]
Q9NYC9	DYH9_HUMAN	2961	K	R	Polymorphism	-
Q9NYC9	DYH9_HUMAN	3664	T	N	Unclassified	A breast cancer sample
Q9NYC9	DYH9_HUMAN	4443	R	C	Polymorphism	-
Q9NYC9	DYH9_HUMAN	2653	D	H	Unclassified	A breast cancer sample
Q9NYC9	DYH9_HUMAN	2087	M	V	Polymorphism	-
Q9NYC9	DYH9_HUMAN	771	R	L	Unclassified	A breast cancer sample
Q9NYC9	DYH9_HUMAN	4036	D	N	Polymorphism	-
Q9NYC9	DYH9_HUMAN	3726	R	W	Polymorphism	-
Q9NYC9	DYH9_HUMAN	3398	R	L	Disease	Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300]
Q9NYC9	DYH9_HUMAN	2195	N	S	Polymorphism	-
Q9NYC9	DYH9_HUMAN	4374	M	I	Polymorphism	-
Q9NYC9	DYH9_HUMAN	1221	T	A	Polymorphism	-
Q9NYC9	DYH9_HUMAN	2968	K	N	Polymorphism	-
Q9NYC9	DYH9_HUMAN	151	R	H	Polymorphism	-
Q9NYC9	DYH9_HUMAN	842	R	W	Polymorphism	-
Q9NYC9	DYH9_HUMAN	3726	R	Q	Polymorphism	-
Q9NYC9	DYH9_HUMAN	2438	Q	H	Polymorphism	-
Q9NYC9	DYH9_HUMAN	445	Q	R	Polymorphism	-
Q9NYC9	DYH9_HUMAN	1158	R	W	Polymorphism	-
Q9NYC9	DYH9_HUMAN	4123	D	N	Disease	Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300]
Q9NYF0	DACT1_HUMAN	142	D	G	Unclassified	-
Q9NYF0	DACT1_HUMAN	628	S	A	Polymorphism	-
Q9NYF0	DACT1_HUMAN	464	A	V	Polymorphism	-
Q9NYF0	DACT1_HUMAN	682	S	L	Unclassified	A colorectal cancer sample
Q9NYF0	DACT1_HUMAN	702	V	G	Unclassified	-
Q9NYF0	DACT1_HUMAN	800	D	G	Polymorphism	-
Q9NYF0	DACT1_HUMAN	124	G	C	Unclassified	A colorectal cancer sample
Q9NYF0	DACT1_HUMAN	45	R	W	Unclassified	Neural tube defects (NTD) [MIM:182940]
Q9NYF0	DACT1_HUMAN	356	N	K	Disease	Neural tube defects (NTD) [MIM:182940]
Q9NYF0	DACT1_HUMAN	697	G	S	Polymorphism	-
Q9NYF0	DACT1_HUMAN	446	D	N	Polymorphism	-
Q9NYF0	DACT1_HUMAN	808	T	K	Unclassified	-
Q9NYF3	FA53C_HUMAN	21	R	C	Polymorphism	-
Q9NYF5	FA13B_HUMAN	802	M	V	Polymorphism	-
Q9NYF8	BCLF1_HUMAN	461	L	H	Polymorphism	-
Q9NYF8	BCLF1_HUMAN	629	N	S	Polymorphism	-
Q9NYF8	BCLF1_HUMAN	875	R	C	Polymorphism	-
Q9NYF8	BCLF1_HUMAN	459	Y	D	Polymorphism	-
Q9NYF8	BCLF1_HUMAN	209	S	C	Polymorphism	-
Q9NYF8	BCLF1_HUMAN	66	G	A	Polymorphism	-
Q9NYG8	KCNK4_HUMAN	328	P	L	Polymorphism	-
Q9NYH9	UTP6_HUMAN	134	L	V	Polymorphism	-
Q9NYH9	UTP6_HUMAN	69	Q	R	Polymorphism	-
Q9NYH9	UTP6_HUMAN	35	K	R	Polymorphism	-
Q9NYI0	PSD3_HUMAN	186	T	M	Polymorphism	-
Q9NYI0	PSD3_HUMAN	186	T	P	Polymorphism	-
Q9NYI0	PSD3_HUMAN	293	P	L	Polymorphism	-
Q9NYJ7	DLL3_HUMAN	142	L	Q	Polymorphism	-
Q9NYJ7	DLL3_HUMAN	385	G	D	Disease	Spondylocostal dysostosis 1, autosomal recessive (SCDO1) [MIM:277300]
Q9NYJ7	DLL3_HUMAN	115	A	T	Polymorphism	-
Q9NYJ7	DLL3_HUMAN	172	F	C	Polymorphism	-
Q9NYJ7	DLL3_HUMAN	218	L	P	Polymorphism	-
Q9NYJ8	TAB2_HUMAN	230	Q	K	Disease	Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980]
Q9NYJ8	TAB2_HUMAN	569	E	K	Unclassified	-
Q9NYJ8	TAB2_HUMAN	208	P	S	Disease	Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980]
Q9NYK1	TLR7_HUMAN	448	A	V	Polymorphism	-
Q9NYK1	TLR7_HUMAN	11	Q	L	Polymorphism	-
Q9NYK5	RM39_HUMAN	31	S	P	Polymorphism	-
Q9NYK6	EURL_HUMAN	117	Q	R	Polymorphism	-
Q9NYK6	EURL_HUMAN	195	Q	H	Polymorphism	-
Q9NYK6	EURL_HUMAN	217	Y	H	Polymorphism	-
Q9NYK6	EURL_HUMAN	115	N	K	Polymorphism	-
Q9NYK6	EURL_HUMAN	136	D	E	Polymorphism	-
Q9NYL2	M3K20_HUMAN	773	Y	H	Polymorphism	-
Q9NYL2	M3K20_HUMAN	281	A	V	Polymorphism	-
Q9NYL2	M3K20_HUMAN	281	A	T	Unclassified	-
Q9NYL2	M3K20_HUMAN	580	R	W	Polymorphism	-
Q9NYL2	M3K20_HUMAN	531	S	L	Polymorphism	-
Q9NYL2	M3K20_HUMAN	740	P	T	Polymorphism	-
Q9NYL2	M3K20_HUMAN	784	K	T	Polymorphism	-
Q9NYL2	M3K20_HUMAN	267	T	M	Polymorphism	-
Q9NYL2	M3K20_HUMAN	368	F	C	Disease	Split-foot malformation with mesoaxial polydactyly (SFMMP) [MIM:616890]
Q9NYL5	CP39A_HUMAN	324	N	K	Polymorphism	-
Q9NYL5	CP39A_HUMAN	23	R	P	Polymorphism	-
Q9NYL5	CP39A_HUMAN	288	Y	H	Polymorphism	-
Q9NYL5	CP39A_HUMAN	103	R	H	Polymorphism	-
Q9NYM4	GPR83_HUMAN	374	P	Q	Polymorphism	-
Q9NYP3	DONS_HUMAN	282	Y	C	Disease	Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604]
Q9NYP3	DONS_HUMAN	28	S	R	Polymorphism	-
Q9NYP3	DONS_HUMAN	489	K	T	Unclassified	Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604]
Q9NYP3	DONS_HUMAN	278	C	R	Disease	Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604]
Q9NYP3	DONS_HUMAN	446	M	T	Disease	Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604]
Q9NYP3	DONS_HUMAN	433	P	S	Disease	Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604]
Q9NYP3	DONS_HUMAN	292	F	L	Disease	Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604]
Q9NYP3	DONS_HUMAN	504	E	K	Disease	Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604]
Q9NYP7	ELOV5_HUMAN	230	G	V	Disease	Spinocerebellar ataxia 38 (SCA38) [MIM:615957]
Q9NYP7	ELOV5_HUMAN	72	L	V	Disease	Spinocerebellar ataxia 38 (SCA38) [MIM:615957]
Q9NYQ3	HAOX2_HUMAN	15	E	K	Polymorphism	-
Q9NYQ3	HAOX2_HUMAN	221	L	M	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	773	A	V	Disease	Neural tube defects (NTD) [MIM:182940]
Q9NYQ6	CELR1_HUMAN	2948	G	S	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	2983	P	A	Disease	Neural tube defects (NTD) [MIM:182940]
Q9NYQ6	CELR1_HUMAN	2107	I	V	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	2903	E	Q	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	664	S	W	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	2964	S	L	Disease	Neural tube defects (NTD) [MIM:182940]
Q9NYQ6	CELR1_HUMAN	1894	Y	H	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	2438	R	Q	Disease	Neural tube defects (NTD) [MIM:182940]
Q9NYQ6	CELR1_HUMAN	587	I	V	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	1126	C	R	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	2739	N	T	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	1995	L	P	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	2219	R	H	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	2797	C	S	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	2312	R	P	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	1994	L	P	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	2268	T	A	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	1242	V	I	Polymorphism	-
Q9NYQ6	CELR1_HUMAN	2045	T	M	Polymorphism	-
Q9NYQ7	CELR3_HUMAN	805	S	T	Polymorphism	-
Q9NYQ7	CELR3_HUMAN	1758	Q	R	Polymorphism	-
Q9NYQ7	CELR3_HUMAN	157	A	P	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	1462	V	M	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	248	P	S	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	1295	L	P	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	3649	R	Q	Unclassified	Spinocerebellar ataxia 45 (SCA45) [MIM:617769]
Q9NYQ8	FAT2_HUMAN	3664	A	G	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	1515	G	S	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	992	R	Q	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	2054	G	A	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	3514	L	S	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	4117	P	L	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	1571	G	S	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	2428	F	S	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	3586	K	N	Unclassified	Spinocerebellar ataxia 45 (SCA45) [MIM:617769]
Q9NYQ8	FAT2_HUMAN	3631	M	I	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	1004	G	S	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	1895	R	W	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	3953	Q	H	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	574	R	C	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	3318	R	W	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	3318	R	Q	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	2907	A	T	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	201	G	A	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	1164	P	L	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	1181	Y	H	Polymorphism	-
Q9NYQ8	FAT2_HUMAN	686	F	S	Polymorphism	-
Q9NYR8	RDH8_HUMAN	136	H	Q	Polymorphism	-
Q9NYR8	RDH8_HUMAN	202	M	T	Polymorphism	-
Q9NYT0	PLEK2_HUMAN	80	T	M	Polymorphism	-
Q9NYU1	UGGG2_HUMAN	1285	Y	F	Polymorphism	-
Q9NYU1	UGGG2_HUMAN	323	A	T	Polymorphism	-
Q9NYU1	UGGG2_HUMAN	924	F	I	Polymorphism	-
Q9NYU1	UGGG2_HUMAN	328	S	A	Polymorphism	-
Q9NYU1	UGGG2_HUMAN	1274	F	L	Polymorphism	-
Q9NYU1	UGGG2_HUMAN	865	K	R	Polymorphism	-
Q9NYU1	UGGG2_HUMAN	821	A	T	Polymorphism	-
Q9NYU1	UGGG2_HUMAN	994	M	L	Polymorphism	-
Q9NYV4	CDK12_HUMAN	1189	L	Q	Polymorphism	-
Q9NYV4	CDK12_HUMAN	912	R	H	Unclassified	A colorectal adenocarcinoma sample
Q9NYV4	CDK12_HUMAN	1275	P	L	Polymorphism	-
Q9NYV4	CDK12_HUMAN	530	P	A	Polymorphism	-
Q9NYV6	RRN3_HUMAN	348	I	M	Polymorphism	-
Q9NYV7	T2R16_HUMAN	172	N	K	Polymorphism	-
Q9NYV7	T2R16_HUMAN	216	N	D	Polymorphism	-
Q9NYV7	T2R16_HUMAN	101	V	M	Polymorphism	-
Q9NYV7	T2R16_HUMAN	114	I	V	Polymorphism	-
Q9NYV7	T2R16_HUMAN	240	F	V	Polymorphism	-
Q9NYV7	T2R16_HUMAN	116	L	P	Polymorphism	-
Q9NYV7	T2R16_HUMAN	161	P	S	Polymorphism	-
Q9NYV7	T2R16_HUMAN	221	A	V	Polymorphism	-
Q9NYV7	T2R16_HUMAN	222	R	H	Polymorphism	-
Q9NYV7	T2R16_HUMAN	235	V	M	Polymorphism	-
Q9NYV7	T2R16_HUMAN	177	Q	P	Polymorphism	-
Q9NYV8	T2R14_HUMAN	201	L	F	Polymorphism	-
Q9NYV8	T2R14_HUMAN	86	T	A	Polymorphism	-
Q9NYV9	T2R13_HUMAN	149	N	S	Unclassified	A breast cancer sample
Q9NYV9	T2R13_HUMAN	259	N	S	Polymorphism	-
Q9NYW0	T2R10_HUMAN	156	T	M	Polymorphism	-
Q9NYW1	TA2R9_HUMAN	187	V	A	Polymorphism	-
Q9NYW1	TA2R9_HUMAN	170	K	Q	Polymorphism	-
Q9NYW1	TA2R9_HUMAN	238	L	V	Polymorphism	-
Q9NYW2	TA2R8_HUMAN	308	M	V	Polymorphism	-
Q9NYW3	TA2R7_HUMAN	263	T	S	Polymorphism	-
Q9NYW3	TA2R7_HUMAN	263	T	M	Polymorphism	-
Q9NYW3	TA2R7_HUMAN	304	M	I	Polymorphism	-
Q9NYW4	TA2R5_HUMAN	167	Y	C	Polymorphism	-
Q9NYW4	TA2R5_HUMAN	20	G	S	Polymorphism	-
Q9NYW4	TA2R5_HUMAN	213	R	Q	Polymorphism	-
Q9NYW4	TA2R5_HUMAN	26	S	I	Polymorphism	-
Q9NYW4	TA2R5_HUMAN	294	R	L	Polymorphism	-
Q9NYW4	TA2R5_HUMAN	113	P	L	Polymorphism	-
Q9NYW5	TA2R4_HUMAN	74	T	M	Polymorphism	-
Q9NYW5	TA2R4_HUMAN	7	F	S	Polymorphism	-
Q9NYW5	TA2R4_HUMAN	62	F	L	Polymorphism	-
Q9NYW5	TA2R4_HUMAN	171	S	N	Polymorphism	-
Q9NYW5	TA2R4_HUMAN	191	I	V	Polymorphism	-
Q9NYW5	TA2R4_HUMAN	3	R	Q	Polymorphism	-
Q9NYW5	TA2R4_HUMAN	96	V	L	Polymorphism	-
Q9NYW7	TA2R1_HUMAN	141	C	Y	Polymorphism	-
Q9NYW7	TA2R1_HUMAN	206	R	W	Polymorphism	-
Q9NYW7	TA2R1_HUMAN	111	R	H	Polymorphism	-
Q9NYW8	RBAK_HUMAN	229	G	E	Polymorphism	-
Q9NYY1	IL20_HUMAN	107	R	Q	Polymorphism	-
Q9NYY3	PLK2_HUMAN	487	P	L	Polymorphism	-
Q9NYY3	PLK2_HUMAN	436	E	K	Polymorphism	-
Q9NYY3	PLK2_HUMAN	92	G	S	Unclassified	A lung adenocarcinoma sample
Q9NYY3	PLK2_HUMAN	14	S	T	Unclassified	An ovarian Endometrioid carcinoma sample
Q9NYY8	FAKD2_HUMAN	15	S	N	Polymorphism	-
Q9NYY8	FAKD2_HUMAN	445	V	E	Polymorphism	-
Q9NYZ1	TV23B_HUMAN	55	G	E	Polymorphism	-
Q9NYZ2	MFRN1_HUMAN	96	R	Q	Polymorphism	-
Q9NYZ2	MFRN1_HUMAN	87	I	V	Polymorphism	-
Q9NYZ3	GTSE1_HUMAN	470	S	L	Polymorphism	-
Q9NYZ3	GTSE1_HUMAN	463	D	E	Polymorphism	-
Q9NYZ3	GTSE1_HUMAN	181	T	A	Polymorphism	-
Q9NYZ3	GTSE1_HUMAN	200	A	V	Polymorphism	-
Q9NYZ3	GTSE1_HUMAN	274	A	T	Polymorphism	-
Q9NYZ3	GTSE1_HUMAN	635	A	T	Polymorphism	-
Q9NYZ3	GTSE1_HUMAN	506	W	R	Polymorphism	-
Q9NYZ3	GTSE1_HUMAN	303	S	N	Polymorphism	-
Q9NYZ3	GTSE1_HUMAN	322	S	N	Polymorphism	-
Q9NYZ4	SIGL8_HUMAN	282	V	L	Unclassified	-
Q9NYZ4	SIGL8_HUMAN	170	S	P	Polymorphism	-
Q9NYZ4	SIGL8_HUMAN	388	R	G	Polymorphism	-
Q9NZ01	TECR_HUMAN	182	P	L	Disease	Mental retardation, autosomal recessive 14 (MRT14) [MIM:614020]
Q9NZ08	ERAP1_HUMAN	725	R	Q	Polymorphism	-
Q9NZ08	ERAP1_HUMAN	346	G	D	Polymorphism	-
Q9NZ08	ERAP1_HUMAN	730	Q	E	Polymorphism	-
Q9NZ08	ERAP1_HUMAN	349	M	V	Polymorphism	-
Q9NZ08	ERAP1_HUMAN	575	D	N	Polymorphism	-
Q9NZ08	ERAP1_HUMAN	276	I	M	Polymorphism	-
Q9NZ08	ERAP1_HUMAN	56	E	K	Polymorphism	-
Q9NZ08	ERAP1_HUMAN	575	D	G	Polymorphism	-
Q9NZ08	ERAP1_HUMAN	528	K	R	Polymorphism	-
Q9NZ08	ERAP1_HUMAN	127	R	P	Polymorphism	-
Q9NZ09	UBAP1_HUMAN	357	N	K	Polymorphism	-
Q9NZ20	PA2G3_HUMAN	378	R	Q	Polymorphism	-
Q9NZ20	PA2G3_HUMAN	157	L	V	Polymorphism	-
Q9NZ20	PA2G3_HUMAN	116	E	Q	Polymorphism	-
Q9NZ20	PA2G3_HUMAN	322	S	R	Polymorphism	-
Q9NZ20	PA2G3_HUMAN	307	H	Y	Polymorphism	-
Q9NZ20	PA2G3_HUMAN	70	S	A	Polymorphism	-
Q9NZ43	USE1_HUMAN	154	L	S	Polymorphism	-
Q9NZ52	GGA3_HUMAN	132	K	R	Polymorphism	-
Q9NZ52	GGA3_HUMAN	574	P	L	Unclassified	A breast cancer sample
Q9NZ52	GGA3_HUMAN	321	S	G	Polymorphism	-
Q9NZ53	PDXL2_HUMAN	456	V	A	Polymorphism	-
Q9NZ56	FMN2_HUMAN	1468	R	H	Polymorphism	-
Q9NZ56	FMN2_HUMAN	1148	R	G	Polymorphism	-
Q9NZ56	FMN2_HUMAN	1291	R	G	Polymorphism	-
Q9NZ63	TLS1_HUMAN	70	Q	H	Polymorphism	-
Q9NZ71	RTEL1_HUMAN	829	Q	P	Polymorphism	-
Q9NZ71	RTEL1_HUMAN	492	M	I	Disease	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
Q9NZ71	RTEL1_HUMAN	124	N	S	Polymorphism	-
Q9NZ71	RTEL1_HUMAN	591	E	D	Disease	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
Q9NZ71	RTEL1_HUMAN	745	V	M	Disease	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
Q9NZ71	RTEL1_HUMAN	964	F	L	Disease	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
Q9NZ71	RTEL1_HUMAN	621	A	T	Disease	Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) [MIM:615190]
Q9NZ71	RTEL1_HUMAN	739	G	V	Disease	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
Q9NZ71	RTEL1_HUMAN	897	K	E	Disease	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
Q9NZ71	RTEL1_HUMAN	710	L	R	Disease	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
Q9NZ71	RTEL1_HUMAN	699	I	M	Disease	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
Q9NZ71	RTEL1_HUMAN	849	G	D	Polymorphism	-
Q9NZ71	RTEL1_HUMAN	1059	A	T	Polymorphism	-
Q9NZ71	RTEL1_HUMAN	484	P	L	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3 (PFBMFT3) [MIM:616373]
Q9NZ71	RTEL1_HUMAN	929	A	T	Polymorphism	-
Q9NZ71	RTEL1_HUMAN	684	R	Q	Polymorphism	-
Q9NZ71	RTEL1_HUMAN	1034	P	H	Polymorphism	-
Q9NZ71	RTEL1_HUMAN	1124	H	P	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3 (PFBMFT3) [MIM:616373]
Q9NZ71	RTEL1_HUMAN	957	R	W	Disease	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
Q9NZ71	RTEL1_HUMAN	251	E	K	Disease	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]
Q9NZ71	RTEL1_HUMAN	647	P	L	Disease	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3 (PFBMFT3) [MIM:616373]
Q9NZ71	RTEL1_HUMAN	1042	Q	H	Polymorphism	-
Q9NZ94	NLGN3_HUMAN	778	G	S	Polymorphism	-
Q9NZ94	NLGN3_HUMAN	451	R	C	Disease	Autism, X-linked 1 (AUTSX1) [MIM:300425]
Q9NZ94	NLGN3_HUMAN	718	L	I	Polymorphism	-
Q9NZ94	NLGN3_HUMAN	451	R	C	Disease	Asperger syndrome, X-linked, 1 (ASPGX1) [MIM:300494]
Q9NZ94	NLGN3_HUMAN	751	G	W	Polymorphism	-
Q9NZ94	NLGN3_HUMAN	92	S	Y	Polymorphism	-
Q9NZA1	CLIC5_HUMAN	114	T	A	Polymorphism	-
Q9NZA1	CLIC5_HUMAN	257	P	H	Polymorphism	-
Q9NZB2	F120A_HUMAN	327	Y	H	Polymorphism	-
Q9NZB8	MOCS1_HUMAN	319	R	Q	Disease	Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]
Q9NZB8	MOCS1_HUMAN	123	R	W	Disease	Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]
Q9NZB8	MOCS1_HUMAN	390	P	H	Polymorphism	-
Q9NZB8	MOCS1_HUMAN	84	C	F	Disease	Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]
Q9NZB8	MOCS1_HUMAN	452	R	L	Polymorphism	-
Q9NZB8	MOCS1_HUMAN	127	G	D	Disease	Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]
Q9NZB8	MOCS1_HUMAN	73	R	W	Disease	Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]
Q9NZB8	MOCS1_HUMAN	324	G	E	Disease	Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]
Q9NZB8	MOCS1_HUMAN	324	G	R	Disease	Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]
Q9NZB8	MOCS1_HUMAN	80	C	G	Disease	Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]
Q9NZB8	MOCS1_HUMAN	126	G	D	Disease	Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]
Q9NZB8	MOCS1_HUMAN	67	R	W	Disease	Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]
Q9NZC2	TREM2_HUMAN	47	R	H	Unclassified	-
Q9NZC2	TREM2_HUMAN	162	S	R	Polymorphism	-
Q9NZC2	TREM2_HUMAN	151	E	K	Unclassified	-
Q9NZC2	TREM2_HUMAN	38	Y	C	Polymorphism	-
Q9NZC2	TREM2_HUMAN	130	A	S	Polymorphism	-
Q9NZC2	TREM2_HUMAN	87	D	N	Polymorphism	-
Q9NZC2	TREM2_HUMAN	66	T	M	Polymorphism	-
Q9NZC2	TREM2_HUMAN	136	R	W	Polymorphism	-
Q9NZC2	TREM2_HUMAN	223	T	I	Polymorphism	-
Q9NZC2	TREM2_HUMAN	62	R	H	Polymorphism	-
Q9NZC2	TREM2_HUMAN	136	R	Q	Polymorphism	-
Q9NZC2	TREM2_HUMAN	31	S	F	Unclassified	-
Q9NZC2	TREM2_HUMAN	211	L	P	Polymorphism	-
Q9NZC2	TREM2_HUMAN	47	R	C	Unclassified	-
Q9NZC2	TREM2_HUMAN	157	H	Y	Polymorphism	-
Q9NZC2	TREM2_HUMAN	96	T	K	Polymorphism	-
Q9NZC2	TREM2_HUMAN	192	A	T	Polymorphism	-
Q9NZC2	TREM2_HUMAN	28	A	V	Unclassified	-
Q9NZC2	TREM2_HUMAN	186	K	N	Unclassified	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (PLOSL2) [MIM:618193]
Q9NZC2	TREM2_HUMAN	27	V	M	Unclassified	-
Q9NZC2	TREM2_HUMAN	96	T	R	Polymorphism	-
Q9NZC2	TREM2_HUMAN	126	V	G	Disease	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (PLOSL2) [MIM:618193]
Q9NZC2	TREM2_HUMAN	134	D	G	Unclassified	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (PLOSL2) [MIM:618193]
Q9NZC3	GDE1_HUMAN	328	E	K	Polymorphism	-
Q9NZC3	GDE1_HUMAN	218	R	Q	Polymorphism	-
Q9NZC4	EHF_HUMAN	96	A	V	Polymorphism	-
Q9NZC7	WWOX_HUMAN	272	L	F	Polymorphism	-
Q9NZC7	WWOX_HUMAN	282	P	A	Polymorphism	-
Q9NZC7	WWOX_HUMAN	291	L	P	Polymorphism	-
Q9NZC7	WWOX_HUMAN	216	L	V	Polymorphism	-
Q9NZC7	WWOX_HUMAN	47	P	T	Disease	Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322]
Q9NZC7	WWOX_HUMAN	47	P	R	Disease	Epileptic encephalopathy, early infantile, 28 (EIEE28) [MIM:616211]
Q9NZC7	WWOX_HUMAN	120	R	W	Unclassified	A histiocytic lymphoma cell line
Q9NZC7	WWOX_HUMAN	98	P	L	Polymorphism	-
Q9NZC7	WWOX_HUMAN	372	G	R	Disease	Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322]
Q9NZC7	WWOX_HUMAN	120	R	W	Unclassified	A primary colorectal tumor
Q9NZC7	WWOX_HUMAN	111	T	S	Unclassified	A Burkitt lymphoma cell line
Q9NZC7	WWOX_HUMAN	314	R	H	Unclassified	A cervical carcinoma cell line
Q9NZC7	WWOX_HUMAN	179	A	T	Polymorphism	-
Q9NZC9	SMAL1_HUMAN	649	D	N	Polymorphism	-
Q9NZC9	SMAL1_HUMAN	647	K	T	Disease	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9NZC9	SMAL1_HUMAN	645	R	C	Disease	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9NZC9	SMAL1_HUMAN	764	R	Q	Disease	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9NZC9	SMAL1_HUMAN	579	S	L	Disease	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9NZC9	SMAL1_HUMAN	424	D	V	Polymorphism	-
Q9NZC9	SMAL1_HUMAN	315	S	R	Polymorphism	-
Q9NZC9	SMAL1_HUMAN	207	I	F	Polymorphism	-
Q9NZC9	SMAL1_HUMAN	820	R	H	Disease	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9NZC9	SMAL1_HUMAN	377	E	Q	Polymorphism	-
Q9NZC9	SMAL1_HUMAN	586	R	W	Disease	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9NZC9	SMAL1_HUMAN	22	A	G	Polymorphism	-
Q9NZC9	SMAL1_HUMAN	468	A	P	Disease	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9NZC9	SMAL1_HUMAN	647	K	Q	Disease	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9NZC9	SMAL1_HUMAN	43	A	T	Polymorphism	-
Q9NZC9	SMAL1_HUMAN	114	R	H	Polymorphism	-
Q9NZC9	SMAL1_HUMAN	548	I	N	Disease	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9NZC9	SMAL1_HUMAN	644	R	W	Disease	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9NZC9	SMAL1_HUMAN	742	T	M	Polymorphism	-
Q9NZC9	SMAL1_HUMAN	432	L	V	Unclassified	A breast cancer sample
Q9NZC9	SMAL1_HUMAN	705	T	I	Disease	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9NZD1	GPC5D_HUMAN	18	A	D	Polymorphism	-
Q9NZD4	AHSP_HUMAN	100	P	T	Polymorphism	-
Q9NZE8	RM35_HUMAN	180	Y	C	Polymorphism	-
Q9NZE8	RM35_HUMAN	19	P	S	Polymorphism	-
Q9NZE8	RM35_HUMAN	29	R	H	Polymorphism	-
Q9NZE8	RM35_HUMAN	81	P	L	Polymorphism	-
Q9NZE8	RM35_HUMAN	24	A	T	Polymorphism	-
Q9NZE8	RM35_HUMAN	80	A	P	Polymorphism	-
Q9NZH5	PTTG2_HUMAN	44	R	P	Polymorphism	-
Q9NZH6	IL37_HUMAN	42	T	A	Polymorphism	-
Q9NZH6	IL37_HUMAN	54	N	S	Polymorphism	-
Q9NZH6	IL37_HUMAN	164	W	R	Polymorphism	-
Q9NZH6	IL37_HUMAN	108	P	L	Polymorphism	-
Q9NZH6	IL37_HUMAN	50	P	R	Polymorphism	-
Q9NZH6	IL37_HUMAN	31	G	V	Polymorphism	-
Q9NZH6	IL37_HUMAN	152	R	W	Polymorphism	-
Q9NZH6	IL37_HUMAN	218	D	N	Polymorphism	-
Q9NZH7	IL36B_HUMAN	36	R	C	Polymorphism	-
Q9NZH8	IL36G_HUMAN	69	Q	K	Polymorphism	-
Q9NZI5	GRHL1_HUMAN	191	N	S	Polymorphism	-
Q9NZI5	GRHL1_HUMAN	397	V	I	Polymorphism	-
Q9NZI7	UBIP1_HUMAN	212	T	A	Polymorphism	-
Q9NZI7	UBIP1_HUMAN	109	N	S	Polymorphism	-
Q9NZJ0	DTL_HUMAN	436	A	V	Polymorphism	-
Q9NZJ0	DTL_HUMAN	425	S	N	Polymorphism	-
Q9NZJ0	DTL_HUMAN	694	K	T	Polymorphism	-
Q9NZJ4	SACS_HUMAN	2798	P	Q	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	232	N	K	Polymorphism	-
Q9NZJ4	SACS_HUMAN	2958	K	R	Polymorphism	-
Q9NZJ4	SACS_HUMAN	2017	K	N	Polymorphism	-
Q9NZJ4	SACS_HUMAN	1054	F	S	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	4074	A	P	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	3702	T	A	Disease	-
Q9NZJ4	SACS_HUMAN	3653	F	S	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	1587	H	R	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	802	L	P	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	1946	W	R	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	1311	M	K	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	3248	W	R	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	4343	E	K	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	3369	V	A	Polymorphism	-
Q9NZJ4	SACS_HUMAN	2703	R	C	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	4217	N	D	Polymorphism	-
Q9NZJ4	SACS_HUMAN	308	L	F	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	556	L	P	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	3481	L	P	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	4331	R	Q	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	3678	P	A	Polymorphism	-
Q9NZJ4	SACS_HUMAN	991	C	R	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	4549	N	D	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	1575	R	P	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	4508	K	T	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	201	T	K	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	694	A	T	Polymorphism	-
Q9NZJ4	SACS_HUMAN	3645	L	P	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	3652	P	T	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	168	D	Y	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	3636	R	Q	Disease	Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
Q9NZJ4	SACS_HUMAN	1795	M	I	Unclassified	A colorectal cancer sample
Q9NZJ5	E2AK3_HUMAN	716	P	L	Polymorphism	-
Q9NZJ5	E2AK3_HUMAN	566	D	V	Polymorphism	-
Q9NZJ5	E2AK3_HUMAN	704	A	S	Polymorphism	-
Q9NZJ5	E2AK3_HUMAN	166	Q	R	Polymorphism	-
Q9NZJ5	E2AK3_HUMAN	588	R	Q	Disease	Wolcott-Rallison syndrome (WRS) [MIM:226980]
Q9NZJ5	E2AK3_HUMAN	136	S	C	Polymorphism	-
Q9NZJ6	COQ3_HUMAN	272	S	G	Polymorphism	-
Q9NZJ6	COQ3_HUMAN	329	Y	H	Polymorphism	-
Q9NZJ6	COQ3_HUMAN	134	K	E	Polymorphism	-
Q9NZK5	ADA2_HUMAN	264	W	S	Disease	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
Q9NZK5	ADA2_HUMAN	142	G	S	Disease	Sneddon syndrome (SNDNS) [MIM:182410]
Q9NZK5	ADA2_HUMAN	109	A	D	Disease	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
Q9NZK5	ADA2_HUMAN	47	G	R	Disease	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
Q9NZK5	ADA2_HUMAN	251	P	L	Disease	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
Q9NZK5	ADA2_HUMAN	47	G	V	Disease	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
Q9NZK5	ADA2_HUMAN	112	H	Q	Disease	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
Q9NZK5	ADA2_HUMAN	169	R	Q	Disease	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
Q9NZK5	ADA2_HUMAN	119	V	A	Disease	Sneddon syndrome (SNDNS) [MIM:182410]
Q9NZK5	ADA2_HUMAN	335	H	R	Polymorphism	-
Q9NZK5	ADA2_HUMAN	453	Y	C	Disease	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
Q9NZL3	ZN224_HUMAN	506	H	D	Polymorphism	-
Q9NZL3	ZN224_HUMAN	640	K	E	Polymorphism	-
Q9NZL3	ZN224_HUMAN	438	K	N	Polymorphism	-
Q9NZL3	ZN224_HUMAN	447	Q	H	Polymorphism	-
Q9NZL3	ZN224_HUMAN	162	H	L	Polymorphism	-
Q9NZL3	ZN224_HUMAN	118	M	V	Polymorphism	-
Q9NZL4	HPBP1_HUMAN	25	G	V	Polymorphism	-
Q9NZL6	RGL1_HUMAN	174	Y	S	Unclassified	A breast cancer sample
Q9NZL6	RGL1_HUMAN	699	V	M	Unclassified	A breast cancer sample
Q9NZL9	MAT2B_HUMAN	293	A	T	Polymorphism	-
Q9NZM1	MYOF_HUMAN	1701	G	A	Polymorphism	-
Q9NZM1	MYOF_HUMAN	1198	Y	F	Polymorphism	-
Q9NZM1	MYOF_HUMAN	1783	R	Q	Polymorphism	-
Q9NZM1	MYOF_HUMAN	1399	R	C	Polymorphism	-
Q9NZM1	MYOF_HUMAN	1136	V	I	Polymorphism	-
Q9NZM3	ITSN2_HUMAN	1287	I	T	Polymorphism	-
Q9NZM3	ITSN2_HUMAN	291	V	I	Polymorphism	-
Q9NZM3	ITSN2_HUMAN	254	T	A	Polymorphism	-
Q9NZM3	ITSN2_HUMAN	1534	A	T	Polymorphism	-
Q9NZM4	BICRA_HUMAN	1044	T	A	Polymorphism	-
Q9NZM4	BICRA_HUMAN	683	P	S	Polymorphism	-
Q9NZM5	NOP53_HUMAN	16	S	R	Polymorphism	-
Q9NZM5	NOP53_HUMAN	389	Q	R	Polymorphism	-
Q9NZM6	PK2L2_HUMAN	507	L	P	Polymorphism	-
Q9NZM6	PK2L2_HUMAN	404	V	I	Polymorphism	-
Q9NZN1	IRPL1_HUMAN	379	K	R	Polymorphism	-
Q9NZN1	IRPL1_HUMAN	637	T	S	Polymorphism	-
Q9NZN1	IRPL1_HUMAN	643	I	V	Polymorphism	-
Q9NZN1	IRPL1_HUMAN	618	Q	H	Polymorphism	-
Q9NZN4	EHD2_HUMAN	57	G	S	Polymorphism	-
Q9NZN5	ARHGC_HUMAN	973	Y	F	Polymorphism	-
Q9NZN8	CNOT2_HUMAN	460	A	T	Polymorphism	-
Q9NZN9	AIPL1_HUMAN	90	D	H	Polymorphism	-
Q9NZN9	AIPL1_HUMAN	239	C	R	Disease	Leber congenital amaurosis 4 (LCA4) [MIM:604393]
Q9NZN9	AIPL1_HUMAN	33	V	A	Polymorphism	-
Q9NZN9	AIPL1_HUMAN	270	R	H	Disease	Leber congenital amaurosis 4 (LCA4) [MIM:604393]
Q9NZN9	AIPL1_HUMAN	302	R	L	Polymorphism	-
Q9NZN9	AIPL1_HUMAN	134	Y	F	Polymorphism	-
Q9NZP0	OR6C3_HUMAN	133	M	T	Polymorphism	-
Q9NZP0	OR6C3_HUMAN	69	S	L	Polymorphism	-
Q9NZP0	OR6C3_HUMAN	234	A	S	Polymorphism	-
Q9NZP2	OR6C2_HUMAN	181	P	A	Polymorphism	-
Q9NZP2	OR6C2_HUMAN	209	L	P	Polymorphism	-
Q9NZP5	O5AC2_HUMAN	200	M	I	Polymorphism	-
Q9NZP6	NPAP1_HUMAN	757	A	T	Polymorphism	-
Q9NZP6	NPAP1_HUMAN	929	T	P	Polymorphism	-
Q9NZP6	NPAP1_HUMAN	406	Q	E	Polymorphism	-
Q9NZP6	NPAP1_HUMAN	343	P	A	Polymorphism	-
Q9NZP6	NPAP1_HUMAN	212	V	A	Polymorphism	-
Q9NZP6	NPAP1_HUMAN	34	P	Q	Polymorphism	-
Q9NZP6	NPAP1_HUMAN	253	G	R	Polymorphism	-
Q9NZP6	NPAP1_HUMAN	37	R	Q	Unclassified	A colorectal cancer sample
Q9NZP6	NPAP1_HUMAN	152	W	R	Polymorphism	-
Q9NZP6	NPAP1_HUMAN	114	V	I	Unclassified	A colorectal cancer sample
Q9NZP6	NPAP1_HUMAN	282	N	S	Polymorphism	-
Q9NZP8	C1RL_HUMAN	285	I	V	Polymorphism	-
Q9NZQ3	SPN90_HUMAN	324	T	S	Polymorphism	-
Q9NZQ3	SPN90_HUMAN	660	Y	S	Polymorphism	-
Q9NZQ8	TRPM5_HUMAN	578	R	Q	Polymorphism	-
Q9NZQ8	TRPM5_HUMAN	254	V	A	Polymorphism	-
Q9NZQ8	TRPM5_HUMAN	456	A	T	Polymorphism	-
Q9NZQ8	TRPM5_HUMAN	235	N	S	Polymorphism	-
Q9NZQ8	TRPM5_HUMAN	335	V	L	Polymorphism	-
Q9NZQ9	TMOD4_HUMAN	336	N	S	Polymorphism	-
Q9NZR1	TMOD2_HUMAN	63	P	A	Polymorphism	-
Q9NZR2	LRP1B_HUMAN	3734	Q	K	Polymorphism	-
Q9NZR2	LRP1B_HUMAN	4264	V	L	Polymorphism	-
Q9NZR2	LRP1B_HUMAN	48	Q	R	Polymorphism	-
Q9NZR2	LRP1B_HUMAN	3458	E	K	Polymorphism	-
Q9NZR2	LRP1B_HUMAN	3140	Q	R	Polymorphism	-
Q9NZR2	LRP1B_HUMAN	3157	R	C	Polymorphism	-
Q9NZR4	VSX1_HUMAN	160	G	D	Unclassified	Keratoconus 1 (KTCN1) [MIM:148300]
Q9NZR4	VSX1_HUMAN	159	L	M	Unclassified	Keratoconus 1 (KTCN1) [MIM:148300]
Q9NZR4	VSX1_HUMAN	131	R	S	Polymorphism	-
Q9NZR4	VSX1_HUMAN	166	R	W	Disease	Keratoconus 1 (KTCN1) [MIM:148300]
Q9NZR4	VSX1_HUMAN	239	G	R	Unclassified	Keratoconus 1 (KTCN1) [MIM:148300]
Q9NZR4	VSX1_HUMAN	244	H	R	Unclassified	Keratoconus 1 (KTCN1) [MIM:148300]
Q9NZR4	VSX1_HUMAN	17	L	P	Disease	Keratoconus 1 (KTCN1) [MIM:148300]
Q9NZR4	VSX1_HUMAN	256	A	S	Disease	Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS) [MIM:614195]
Q9NZR4	VSX1_HUMAN	175	Q	H	Disease	Keratoconus 1 (KTCN1) [MIM:148300]
Q9NZR4	VSX1_HUMAN	144	D	E	Polymorphism	-
Q9NZR4	VSX1_HUMAN	247	P	R	Unclassified	Keratoconus 1 (KTCN1) [MIM:148300]
Q9NZS2	KLRF1_HUMAN	67	L	F	Polymorphism	-
Q9NZS9	BFAR_HUMAN	245	R	H	Polymorphism	-
Q9NZS9	BFAR_HUMAN	140	M	R	Polymorphism	-
Q9NZT1	CALL5_HUMAN	58	S	G	Polymorphism	-
Q9NZT1	CALL5_HUMAN	74	K	R	Polymorphism	-
Q9NZT2	OGFR_HUMAN	577	S	T	Polymorphism	-
Q9NZT2	OGFR_HUMAN	545	R	S	Polymorphism	-
Q9NZU0	FLRT3_HUMAN	97	E	G	Disease	Hypogonadotropic hypogonadism 21 with or without anosmia (HH21) [MIM:615271]
Q9NZU0	FLRT3_HUMAN	144	S	I	Disease	Hypogonadotropic hypogonadism 21 with or without anosmia (HH21) [MIM:615271]
Q9NZU0	FLRT3_HUMAN	377	A	T	Polymorphism	-
Q9NZU0	FLRT3_HUMAN	69	Q	K	Disease	Hypogonadotropic hypogonadism 21 with or without anosmia (HH21) [MIM:615271]
Q9NZU0	FLRT3_HUMAN	452	I	V	Polymorphism	-
Q9NZU0	FLRT3_HUMAN	460	E	D	Polymorphism	-
Q9NZU0	FLRT3_HUMAN	400	H	Q	Polymorphism	-
Q9NZU0	FLRT3_HUMAN	339	K	R	Disease	Hypogonadotropic hypogonadism 21 with or without anosmia (HH21) [MIM:615271]
Q9NZV1	CRIM1_HUMAN	781	V	I	Polymorphism	-
Q9NZV1	CRIM1_HUMAN	502	E	K	Polymorphism	-
Q9NZV5	SELN_HUMAN	273	G	E	Disease	Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
Q9NZV5	SELN_HUMAN	340	N	I	Disease	Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
Q9NZV5	SELN_HUMAN	502	N	K	Polymorphism	-
Q9NZV5	SELN_HUMAN	137	T	A	Polymorphism	-
Q9NZV5	SELN_HUMAN	469	R	Q	Disease	Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
Q9NZV5	SELN_HUMAN	142	C	Y	Polymorphism	-
Q9NZV5	SELN_HUMAN	315	G	S	Disease	Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
Q9NZV5	SELN_HUMAN	293	H	R	Disease	Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
Q9NZV5	SELN_HUMAN	453	W	S	Disease	Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
Q9NZV5	SELN_HUMAN	463	G	V	Disease	Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
Q9NZV5	SELN_HUMAN	315	G	S	Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
Q9NZV5	SELN_HUMAN	466	R	Q	Disease	Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
Q9NZV5	SELN_HUMAN	469	R	W	Disease	Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
Q9NZV5	SELN_HUMAN	462	U	G	Disease	Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
Q9NZV7	ZIM2_HUMAN	408	Q	R	Polymorphism	-
Q9NZV7	ZIM2_HUMAN	110	A	T	Polymorphism	-
Q9NZV7	ZIM2_HUMAN	473	R	K	Polymorphism	-
Q9NZV8	KCND2_HUMAN	404	V	M	Disease	-
Q9NZW4	DSPP_HUMAN	17	P	L	Disease	Dentinogenesis imperfecta, Shields type 3 (DGI3) [MIM:125500]
Q9NZW4	DSPP_HUMAN	15	A	V	Disease	Dentinogenesis imperfecta, Shields type 2 (DGI2) [MIM:125490]
Q9NZW4	DSPP_HUMAN	18	V	F	Disease	Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594]
Q9NZW4	DSPP_HUMAN	18	V	F	Disease	Dentinogenesis imperfecta, Shields type 3 (DGI3) [MIM:125500]
Q9NZW4	DSPP_HUMAN	18	V	D	Disease	Dentinogenesis imperfecta, Shields type 2 (DGI2) [MIM:125490]
Q9NZW4	DSPP_HUMAN	6	Y	D	Disease	Dentin dysplasia 2 (DTDP2) [MIM:125420]
Q9NZW4	DSPP_HUMAN	17	P	T	Disease	Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594]
Q9NZW4	DSPP_HUMAN	243	D	N	Polymorphism	-
Q9NZW4	DSPP_HUMAN	68	R	W	Disease	Dentinogenesis imperfecta, Shields type 2 (DGI2) [MIM:125490]
Q9NZW4	DSPP_HUMAN	17	P	S	Polymorphism	-
Q9P003	CNIH4_HUMAN	3	A	G	Polymorphism	-
Q9P021	CRIPT_HUMAN	3	C	Y	Disease	Short stature with microcephaly and distinctive facies (SSMCF) [MIM:615789]
Q9P032	NDUF4_HUMAN	65	L	P	Disease	Mitochondrial complex I deficiency, nuclear type 15 (MC1DN15) [MIM:618237]
Q9P032	NDUF4_HUMAN	3	A	P	Disease	Mitochondrial complex I deficiency, nuclear type 15 (MC1DN15) [MIM:618237]
Q9P035	HACD3_HUMAN	269	M	L	Polymorphism	-
Q9P035	HACD3_HUMAN	56	E	K	Polymorphism	-
Q9P0G3	KLK14_HUMAN	33	Q	R	Polymorphism	-
Q9P0G3	KLK14_HUMAN	64	R	H	Polymorphism	-
Q9P0G3	KLK14_HUMAN	45	H	Y	Polymorphism	-
Q9P0J0	NDUAD_HUMAN	115	R	P	Unclassified	A Hurthle cell variant of papillary carcinoma sample
Q9P0J0	NDUAD_HUMAN	57	R	H	Disease	Mitochondrial complex I deficiency, nuclear type 28 (MC1DN28) [MIM:618249]
Q9P0J0	NDUAD_HUMAN	5	K	N	Unclassified	A Hurthle cell variant of papillary carcinoma sample
Q9P0K1	ADA22_HUMAN	207	V	I	Polymorphism	-
Q9P0K1	ADA22_HUMAN	81	P	R	Polymorphism	-
Q9P0K1	ADA22_HUMAN	401	C	Y	Unclassified	Epileptic encephalopathy, early infantile, 61 (EIEE61) [MIM:617933]
Q9P0K1	ADA22_HUMAN	119	H	Y	Polymorphism	-
Q9P0K7	RAI14_HUMAN	499	V	L	Polymorphism	-
Q9P0K7	RAI14_HUMAN	44	A	T	Polymorphism	-
Q9P0K7	RAI14_HUMAN	45	S	N	Polymorphism	-
Q9P0K7	RAI14_HUMAN	870	A	S	Polymorphism	-
Q9P0K8	FOXJ2_HUMAN	229	P	R	Polymorphism	-
Q9P0K8	FOXJ2_HUMAN	310	P	S	Polymorphism	-
Q9P0L0	VAPA_HUMAN	104	P	L	Polymorphism	-
Q9P0L0	VAPA_HUMAN	8	M	T	Polymorphism	-
Q9P0L1	ZKSC7_HUMAN	153	F	S	Polymorphism	-
Q9P0L1	ZKSC7_HUMAN	432	T	A	Polymorphism	-
Q9P0L1	ZKSC7_HUMAN	746	S	F	Polymorphism	-
Q9P0L1	ZKSC7_HUMAN	483	T	I	Polymorphism	-
Q9P0L1	ZKSC7_HUMAN	342	T	I	Polymorphism	-
Q9P0L1	ZKSC7_HUMAN	359	E	K	Polymorphism	-
Q9P0L1	ZKSC7_HUMAN	24	R	C	Polymorphism	-
Q9P0L2	MARK1_HUMAN	233	Y	C	Unclassified	A gastric adenocarcinoma sample
Q9P0L2	MARK1_HUMAN	645	R	G	Polymorphism	-
Q9P0L2	MARK1_HUMAN	578	P	L	Polymorphism	-
Q9P0L2	MARK1_HUMAN	530	V	M	Polymorphism	-
Q9P0L2	MARK1_HUMAN	691	E	G	Polymorphism	-
Q9P0L2	MARK1_HUMAN	355	N	T	Unclassified	An ovarian serous carcinoma sample
Q9P0L9	PK2L1_HUMAN	278	R	Q	Polymorphism	-
Q9P0L9	PK2L1_HUMAN	681	R	L	Polymorphism	-
Q9P0L9	PK2L1_HUMAN	788	A	D	Polymorphism	-
Q9P0L9	PK2L1_HUMAN	378	R	W	Polymorphism	-
Q9P0L9	PK2L1_HUMAN	393	V	I	Polymorphism	-
Q9P0M2	AKA7G_HUMAN	215	S	N	Polymorphism	-
Q9P0M2	AKA7G_HUMAN	26	E	K	Polymorphism	-
Q9P0M4	IL17C_HUMAN	25	R	G	Polymorphism	-
Q9P0M9	RM27_HUMAN	24	T	A	Polymorphism	-
Q9P0N5	TM216_HUMAN	89	L	F	Disease	Joubert syndrome 2 (JBTS2) [MIM:608091]
Q9P0N5	TM216_HUMAN	77	G	A	Disease	Meckel syndrome 2 (MKS2) [MIM:603194]
Q9P0N5	TM216_HUMAN	73	R	H	Disease	Joubert syndrome 2 (JBTS2) [MIM:608091]
Q9P0N5	TM216_HUMAN	73	R	L	Disease	Joubert syndrome 2 (JBTS2) [MIM:608091]
Q9P0N5	TM216_HUMAN	73	R	C	Disease	Joubert syndrome 2 (JBTS2) [MIM:608091]
Q9P0N5	TM216_HUMAN	73	R	H	Disease	Meckel syndrome 2 (MKS2) [MIM:603194]
Q9P0N5	TM216_HUMAN	114	L	R	Disease	Meckel syndrome 2 (MKS2) [MIM:603194]
Q9P0N8	MARH2_HUMAN	54	A	T	Polymorphism	-
Q9P0N8	MARH2_HUMAN	219	R	P	Polymorphism	-
Q9P0N9	TBCD7_HUMAN	67	L	W	Polymorphism	-
Q9P0N9	TBCD7_HUMAN	136	A	T	Polymorphism	-
Q9P0P0	RN181_HUMAN	118	Y	H	Polymorphism	-
Q9P0S9	TM14C_HUMAN	109	N	I	Polymorphism	-
Q9P0S9	TM14C_HUMAN	108	F	L	Polymorphism	-
Q9P0S9	TM14C_HUMAN	106	S	R	Polymorphism	-
Q9P0S9	TM14C_HUMAN	112	H	D	Polymorphism	-
Q9P0U3	SENP1_HUMAN	350	D	G	Polymorphism	-
Q9P0U3	SENP1_HUMAN	193	I	V	Polymorphism	-
Q9P0U3	SENP1_HUMAN	280	A	T	Polymorphism	-
Q9P0V3	SH3B4_HUMAN	197	A	T	Polymorphism	-
Q9P0V3	SH3B4_HUMAN	155	M	T	Polymorphism	-
Q9P0V8	SLAF8_HUMAN	5	P	T	Polymorphism	-
Q9P0V8	SLAF8_HUMAN	129	V	M	Polymorphism	-
Q9P0V8	SLAF8_HUMAN	99	G	S	Polymorphism	-
Q9P0V9	SEP10_HUMAN	189	L	P	Polymorphism	-
Q9P0W0	IFNK_HUMAN	97	I	N	Polymorphism	-
Q9P0W0	IFNK_HUMAN	133	K	E	Polymorphism	-
Q9P0W8	SPAT7_HUMAN	324	G	E	Polymorphism	-
Q9P0W8	SPAT7_HUMAN	74	V	M	Polymorphism	-
Q9P0W8	SPAT7_HUMAN	119	F	L	Polymorphism	-
Q9P0W8	SPAT7_HUMAN	534	R	Q	Polymorphism	-
Q9P0W8	SPAT7_HUMAN	332	I	T	Polymorphism	-
Q9P0W8	SPAT7_HUMAN	165	S	N	Polymorphism	-
Q9P0W8	SPAT7_HUMAN	2	D	N	Polymorphism	-
Q9P0X4	CAC1I_HUMAN	1782	G	A	Polymorphism	-
Q9P0X4	CAC1I_HUMAN	1513	T	M	Polymorphism	-
Q9P0X4	CAC1I_HUMAN	1040	I	V	Polymorphism	-
Q9P0X4	CAC1I_HUMAN	1782	G	R	Polymorphism	-
Q9P107	GMIP_HUMAN	641	D	N	Polymorphism	-
Q9P109	GCNT4_HUMAN	321	V	L	Polymorphism	-
Q9P109	GCNT4_HUMAN	439	P	S	Polymorphism	-
Q9P109	GCNT4_HUMAN	321	V	I	Polymorphism	-
Q9P126	CLC1B_HUMAN	20	I	V	Polymorphism	-
Q9P126	CLC1B_HUMAN	64	G	D	Polymorphism	-
Q9P126	CLC1B_HUMAN	24	S	P	Polymorphism	-
Q9P126	CLC1B_HUMAN	28	S	F	Polymorphism	-
Q9P127	LUZP4_HUMAN	306	T	A	Polymorphism	-
Q9P127	LUZP4_HUMAN	14	P	S	Polymorphism	-
Q9P1A6	DLGP2_HUMAN	419	P	Q	Polymorphism	-
Q9P1A6	DLGP2_HUMAN	620	T	M	Polymorphism	-
Q9P1Q0	VPS54_HUMAN	912	M	I	Polymorphism	-
Q9P1Q0	VPS54_HUMAN	561	S	C	Polymorphism	-
Q9P1Q5	OR1A1_HUMAN	233	V	M	Polymorphism	-
Q9P1Q5	OR1A1_HUMAN	285	P	S	Polymorphism	-
Q9P1Q5	OR1A1_HUMAN	128	R	H	Polymorphism	-
Q9P1U0	RPA12_HUMAN	14	Q	H	Polymorphism	-
Q9P1U1	ARP3B_HUMAN	250	R	Q	Polymorphism	-
Q9P1V8	SAM15_HUMAN	18	L	P	Polymorphism	-
Q9P1V8	SAM15_HUMAN	370	K	E	Polymorphism	-
Q9P1V8	SAM15_HUMAN	168	M	I	Polymorphism	-
Q9P1V8	SAM15_HUMAN	454	K	E	Polymorphism	-
Q9P1W3	CSC1_HUMAN	654	M	V	Polymorphism	-
Q9P1W8	SIRPG_HUMAN	286	S	L	Polymorphism	-
Q9P1W8	SIRPG_HUMAN	263	V	A	Polymorphism	-
Q9P1W9	PIM2_HUMAN	138	G	D	Polymorphism	-
Q9P1W9	PIM2_HUMAN	280	I	V	Polymorphism	-
Q9P1Y5	CAMP3_HUMAN	335	P	S	Polymorphism	-
Q9P1Y6	PHRF1_HUMAN	1231	E	A	Polymorphism	-
Q9P1Y6	PHRF1_HUMAN	1449	V	A	Polymorphism	-
Q9P1Y6	PHRF1_HUMAN	1374	A	V	Polymorphism	-
Q9P1Z0	ZBTB4_HUMAN	561	N	S	Polymorphism	-
Q9P1Z0	ZBTB4_HUMAN	550	M	I	Polymorphism	-
Q9P1Z0	ZBTB4_HUMAN	539	A	V	Polymorphism	-
Q9P1Z2	CACO1_HUMAN	393	R	K	Polymorphism	-
Q9P1Z3	HCN3_HUMAN	630	P	L	Polymorphism	-
Q9P1Z9	CC180_HUMAN	778	E	K	Polymorphism	-
Q9P1Z9	CC180_HUMAN	162	P	H	Polymorphism	-
Q9P1Z9	CC180_HUMAN	1175	F	L	Polymorphism	-
Q9P1Z9	CC180_HUMAN	1573	D	N	Polymorphism	-
Q9P1Z9	CC180_HUMAN	409	P	R	Polymorphism	-
Q9P1Z9	CC180_HUMAN	183	S	R	Polymorphism	-
Q9P1Z9	CC180_HUMAN	856	S	C	Polymorphism	-
Q9P1Z9	CC180_HUMAN	234	L	H	Polymorphism	-
Q9P202	WHRN_HUMAN	423	R	P	Polymorphism	-
Q9P202	WHRN_HUMAN	613	M	T	Polymorphism	-
Q9P202	WHRN_HUMAN	562	P	A	Polymorphism	-
Q9P202	WHRN_HUMAN	796	N	K	Polymorphism	-
Q9P202	WHRN_HUMAN	752	Q	H	Polymorphism	-
Q9P202	WHRN_HUMAN	813	T	M	Polymorphism	-
Q9P202	WHRN_HUMAN	440	A	T	Polymorphism	-
Q9P202	WHRN_HUMAN	364	H	R	Polymorphism	-
Q9P202	WHRN_HUMAN	443	A	S	Polymorphism	-
Q9P202	WHRN_HUMAN	783	V	A	Polymorphism	-
Q9P206	K1522_HUMAN	57	P	S	Polymorphism	-
Q9P206	K1522_HUMAN	310	L	I	Polymorphism	-
Q9P206	K1522_HUMAN	232	M	V	Polymorphism	-
Q9P206	K1522_HUMAN	1021	E	K	Polymorphism	-
Q9P206	K1522_HUMAN	114	S	P	Polymorphism	-
Q9P206	K1522_HUMAN	770	P	L	Polymorphism	-
Q9P209	CEP72_HUMAN	412	P	T	Polymorphism	-
Q9P209	CEP72_HUMAN	238	P	L	Polymorphism	-
Q9P209	CEP72_HUMAN	509	T	A	Polymorphism	-
Q9P212	PLCE1_HUMAN	1484	S	L	Disease	Nephrotic syndrome 3 (NPHS3) [MIM:610725]
Q9P212	PLCE1_HUMAN	469	S	T	Polymorphism	-
Q9P212	PLCE1_HUMAN	1927	H	R	Polymorphism	-
Q9P212	PLCE1_HUMAN	548	R	L	Polymorphism	-
Q9P212	PLCE1_HUMAN	1575	R	P	Polymorphism	-
Q9P212	PLCE1_HUMAN	1777	T	I	Polymorphism	-
Q9P217	ZSWM5_HUMAN	368	V	G	Polymorphism	-
Q9P218	COKA1_HUMAN	134	P	L	Polymorphism	-
Q9P219	DAPLE_HUMAN	811	A	E	Polymorphism	-
Q9P219	DAPLE_HUMAN	1992	L	P	Polymorphism	-
Q9P219	DAPLE_HUMAN	1028	A	V	Polymorphism	-
Q9P219	DAPLE_HUMAN	637	L	V	Polymorphism	-
Q9P219	DAPLE_HUMAN	464	R	H	Disease	Spinocerebellar ataxia 40 (SCA40) [MIM:616053]
Q9P225	DYH2_HUMAN	1326	E	G	Polymorphism	-
Q9P225	DYH2_HUMAN	312	S	T	Polymorphism	-
Q9P225	DYH2_HUMAN	3600	T	I	Polymorphism	-
Q9P225	DYH2_HUMAN	2548	R	H	Polymorphism	-
Q9P225	DYH2_HUMAN	100	A	V	Polymorphism	-
Q9P225	DYH2_HUMAN	2904	R	H	Polymorphism	-
Q9P232	CNTN3_HUMAN	708	N	S	Polymorphism	-
Q9P232	CNTN3_HUMAN	630	S	N	Polymorphism	-
Q9P241	AT10D_HUMAN	716	P	T	Polymorphism	-
Q9P241	AT10D_HUMAN	1183	R	K	Polymorphism	-
Q9P241	AT10D_HUMAN	959	S	N	Polymorphism	-
Q9P241	AT10D_HUMAN	171	C	R	Polymorphism	-
Q9P241	AT10D_HUMAN	337	A	T	Polymorphism	-
Q9P241	AT10D_HUMAN	1392	A	G	Polymorphism	-
Q9P241	AT10D_HUMAN	1240	V	I	Polymorphism	-
Q9P241	AT10D_HUMAN	522	F	L	Polymorphism	-
Q9P241	AT10D_HUMAN	43	T	I	Polymorphism	-
Q9P241	AT10D_HUMAN	511	N	S	Polymorphism	-
Q9P241	AT10D_HUMAN	1389	S	T	Polymorphism	-
Q9P241	AT10D_HUMAN	720	N	S	Polymorphism	-
Q9P241	AT10D_HUMAN	320	T	I	Polymorphism	-
Q9P242	NYAP2_HUMAN	205	T	A	Polymorphism	-
Q9P242	NYAP2_HUMAN	586	T	P	Polymorphism	-
Q9P243	ZFAT_HUMAN	102	P	S	Polymorphism	-
Q9P243	ZFAT_HUMAN	64	G	R	Polymorphism	-
Q9P243	ZFAT_HUMAN	672	R	K	Polymorphism	-
Q9P253	VPS18_HUMAN	913	A	S	Unclassified	A colorectal cancer sample
Q9P255	ZN492_HUMAN	106	T	K	Polymorphism	-
Q9P260	RELCH_HUMAN	929	G	E	Unclassified	A colorectal cancer sample
Q9P265	DIP2B_HUMAN	792	I	V	Polymorphism	-
Q9P266	JCAD_HUMAN	957	R	G	Polymorphism	-
Q9P266	JCAD_HUMAN	487	E	D	Polymorphism	-
Q9P266	JCAD_HUMAN	729	E	A	Polymorphism	-
Q9P266	JCAD_HUMAN	1095	A	G	Polymorphism	-
Q9P266	JCAD_HUMAN	494	D	N	Polymorphism	-
Q9P266	JCAD_HUMAN	1002	S	T	Polymorphism	-
Q9P267	MBD5_HUMAN	1048	T	I	Unclassified	Mental retardation, autosomal dominant 1 (MRD1) [MIM:156200]
Q9P267	MBD5_HUMAN	461	R	H	Unclassified	Mental retardation, autosomal dominant 1 (MRD1) [MIM:156200]
Q9P267	MBD5_HUMAN	654	D	E	Unclassified	Mental retardation, autosomal dominant 1 (MRD1) [MIM:156200]
Q9P267	MBD5_HUMAN	857	A	T	Unclassified	Mental retardation, autosomal dominant 1 (MRD1) [MIM:156200]
Q9P267	MBD5_HUMAN	144	T	I	Unclassified	Mental retardation, autosomal dominant 1 (MRD1) [MIM:156200]
Q9P267	MBD5_HUMAN	655	A	T	Unclassified	Mental retardation, autosomal dominant 1 (MRD1) [MIM:156200]
Q9P267	MBD5_HUMAN	677	S	N	Polymorphism	-
Q9P272	TRM9B_HUMAN	93	L	F	Unclassified	-
Q9P272	TRM9B_HUMAN	207	C	G	Polymorphism	-
Q9P272	TRM9B_HUMAN	304	G	E	Polymorphism	-
Q9P272	TRM9B_HUMAN	150	H	R	Polymorphism	-
Q9P272	TRM9B_HUMAN	451	R	G	Polymorphism	-
Q9P272	TRM9B_HUMAN	219	P	T	Polymorphism	-
Q9P272	TRM9B_HUMAN	265	I	T	Polymorphism	-
Q9P272	TRM9B_HUMAN	337	H	L	Polymorphism	-
Q9P273	TEN3_HUMAN	385	S	C	Polymorphism	-
Q9P275	UBP36_HUMAN	775	R	Q	Polymorphism	-
Q9P275	UBP36_HUMAN	489	I	M	Polymorphism	-
Q9P275	UBP36_HUMAN	271	V	I	Polymorphism	-
Q9P275	UBP36_HUMAN	806	Q	R	Polymorphism	-
Q9P275	UBP36_HUMAN	887	R	P	Polymorphism	-
Q9P275	UBP36_HUMAN	828	R	C	Polymorphism	-
Q9P275	UBP36_HUMAN	814	K	N	Polymorphism	-
Q9P278	FNIP2_HUMAN	298	T	S	Polymorphism	-
Q9P281	BAHC1_HUMAN	1434	R	Q	Polymorphism	-
Q9P281	BAHC1_HUMAN	1678	T	A	Polymorphism	-
Q9P281	BAHC1_HUMAN	272	A	T	Polymorphism	-
Q9P281	BAHC1_HUMAN	2510	R	C	Polymorphism	-
Q9P281	BAHC1_HUMAN	2029	V	I	Polymorphism	-
Q9P281	BAHC1_HUMAN	1168	T	A	Polymorphism	-
Q9P283	SEM5B_HUMAN	220	I	T	Polymorphism	-
Q9P283	SEM5B_HUMAN	223	I	M	Unclassified	A breast cancer sample
Q9P283	SEM5B_HUMAN	42	G	S	Unclassified	A breast cancer sample
Q9P283	SEM5B_HUMAN	1028	D	G	Polymorphism	-
Q9P283	SEM5B_HUMAN	840	V	D	Polymorphism	-
Q9P283	SEM5B_HUMAN	742	M	T	Polymorphism	-
Q9P283	SEM5B_HUMAN	996	S	P	Polymorphism	-
Q9P286	PAK5_HUMAN	312	S	P	Unclassified	A colorectal adenocarcinoma sample
Q9P286	PAK5_HUMAN	187	P	A	Polymorphism	-
Q9P286	PAK5_HUMAN	538	T	N	Unclassified	A lung adenocarcinoma sample
Q9P286	PAK5_HUMAN	335	R	P	Polymorphism	-
Q9P286	PAK5_HUMAN	604	V	I	Unclassified	A metastatic melanoma sample
Q9P286	PAK5_HUMAN	704	G	S	Unclassified	A metastatic melanoma sample
Q9P286	PAK5_HUMAN	511	S	N	Polymorphism	-
Q9P286	PAK5_HUMAN	118	G	D	Polymorphism	-
Q9P286	PAK5_HUMAN	555	A	S	Polymorphism	-
Q9P287	BCCIP_HUMAN	254	E	Q	Polymorphism	-
Q9P289	STK26_HUMAN	36	G	W	Unclassified	A gastric adenocarcinoma sample
Q9P289	STK26_HUMAN	45	R	C	Polymorphism	-
Q9P289	STK26_HUMAN	9	Q	R	Polymorphism	-
Q9P296	C5AR2_HUMAN	233	P	L	Polymorphism	-
Q9P296	C5AR2_HUMAN	323	S	I	Polymorphism	-
Q9P298	HIG1B_HUMAN	86	S	N	Polymorphism	-
Q9P298	HIG1B_HUMAN	87	D	N	Polymorphism	-
Q9P2A4	ABI3_HUMAN	203	S	F	Polymorphism	-
Q9P2A4	ABI3_HUMAN	209	F	S	Polymorphism	-
Q9P2A4	ABI3_HUMAN	44	R	Q	Polymorphism	-
Q9P2B2	FPRP_HUMAN	837	V	I	Polymorphism	-
Q9P2B2	FPRP_HUMAN	277	S	T	Polymorphism	-
Q9P2B4	CT2NL_HUMAN	296	V	M	Polymorphism	-
Q9P2B4	CT2NL_HUMAN	409	S	G	Polymorphism	-
Q9P2B7	CFA97_HUMAN	443	L	S	Polymorphism	-
Q9P2B7	CFA97_HUMAN	238	T	A	Polymorphism	-
Q9P2D0	IBTK_HUMAN	1185	A	V	Polymorphism	-
Q9P2D0	IBTK_HUMAN	1065	V	I	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2108	G	R	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	2225	A	T	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2948	K	E	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	2495	R	S	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2330	G	A	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1742	V	D	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	41	M	I	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1594	P	S	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1592	R	W	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1375	L	F	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	834	S	F	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	2160	A	T	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2108	G	R	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1302	L	P	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	103	S	T	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1345	R	H	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1292	L	P	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1030	N	S	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	944	R	S	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	340	M	V	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2880	P	L	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	2116	I	N	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2103	G	D	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1617	G	D	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1318	C	R	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1317	R	C	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1291	K	E	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	2750	F	L	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2702	R	C	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2789	A	T	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2084	S	G	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2065	R	S	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	558	P	A	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2418	R	G	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1950	A	T	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2077	R	K	Unclassified	-
Q9P2D1	CHD7_HUMAN	2683	P	S	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2527	M	L	Polymorphism	-
Q9P2D1	CHD7_HUMAN	886	R	W	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	55	H	R	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	527	S	A	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2065	R	H	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2319	R	C	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	201	Q	R	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1619	G	V	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	439	P	S	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1082	T	N	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1031	W	R	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1251	C	R	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1081	I	S	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2398	R	G	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	117	G	D	Polymorphism	-
Q9P2D1	CHD7_HUMAN	758	R	H	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	369	P	A	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1745	L	P	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	636	G	V	Polymorphism	-
Q9P2D1	CHD7_HUMAN	86	P	R	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2780	A	V	Polymorphism	-
Q9P2D1	CHD7_HUMAN	93	T	A	Polymorphism	-
Q9P2D1	CHD7_HUMAN	72	Y	C	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1866	D	G	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1684	G	S	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2833	Q	P	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	99	A	P	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2108	G	W	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	596	Q	K	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1322	L	P	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1797	G	V	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2065	R	C	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	1838	M	V	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	522	G	V	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2725	I	V	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1802	G	D	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	744	G	S	Polymorphism	-
Q9P2D1	CHD7_HUMAN	917	T	M	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1208	V	D	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1815	L	P	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2096	H	R	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2319	R	S	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1031	W	G	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	167	P	L	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1345	R	C	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1791	D	E	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	524	H	P	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1416	T	R	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2366	L	R	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1739	L	R	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1684	G	S	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	1101	C	R	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1020	L	S	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2653	R	Q	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1912	R	G	Disease	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	1672	A	V	Polymorphism	-
Q9P2D1	CHD7_HUMAN	812	K	N	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1257	L	R	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	466	S	L	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1812	D	H	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1972	A	G	Polymorphism	-
Q9P2D1	CHD7_HUMAN	37	M	L	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2931	V	M	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2806	L	V	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1457	K	Q	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	699	S	G	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1203	E	Q	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	238	V	L	Polymorphism	-
Q9P2D1	CHD7_HUMAN	947	R	Q	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2097	D	G	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2259	A	T	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1812	D	G	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	238	V	M	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1395	Q	H	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	286	R	G	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2464	K	E	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2857	S	A	Polymorphism	-
Q9P2D1	CHD7_HUMAN	1617	G	S	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	938	R	K	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	942	T	A	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	975	G	R	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1214	Q	R	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	840	W	C	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	871	E	D	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2984	L	F	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2312	K	T	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	699	S	T	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2491	R	C	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2118	N	D	Polymorphism	-
Q9P2D1	CHD7_HUMAN	944	R	H	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2102	V	I	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1576	F	C	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1028	I	V	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2415	A	S	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2074	L	P	Unclassified	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	907	K	T	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	1345	R	C	Unclassified	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	1294	L	P	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	511	L	V	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2074	L	P	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	728	D	N	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2112	T	M	Unclassified	-
Q9P2D1	CHD7_HUMAN	254	Q	E	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2488	G	D	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2286	G	A	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2062	R	W	Polymorphism	-
Q9P2D1	CHD7_HUMAN	2091	W	R	Disease	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	894	T	A	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D1	CHD7_HUMAN	2259	A	T	Unclassified	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]
Q9P2D1	CHD7_HUMAN	2733	A	T	Unclassified	CHARGE syndrome (CHARGES) [MIM:214800]
Q9P2D3	HTR5B_HUMAN	1601	S	P	Polymorphism	-
Q9P2D6	F135A_HUMAN	725	I	V	Polymorphism	-
Q9P2D6	F135A_HUMAN	1242	D	G	Polymorphism	-
Q9P2D6	F135A_HUMAN	954	P	S	Polymorphism	-
Q9P2D7	DYH1_HUMAN	441	V	L	Polymorphism	-
Q9P2D7	DYH1_HUMAN	1154	K	Q	Disease	Ciliary dyskinesia, primary, 37 (CILD37) [MIM:617577]
Q9P2D7	DYH1_HUMAN	1502	V	M	Polymorphism	-
Q9P2D7	DYH1_HUMAN	1372	T	M	Unclassified	Spermatogenic failure 18 (SPGF18) [MIM:617576]
Q9P2D7	DYH1_HUMAN	1663	R	C	Polymorphism	-
Q9P2D7	DYH1_HUMAN	205	E	D	Polymorphism	-
Q9P2D7	DYH1_HUMAN	4133	R	C	Unclassified	Spermatogenic failure 18 (SPGF18) [MIM:617576]
Q9P2D7	DYH1_HUMAN	2384	N	S	Polymorphism	-
Q9P2D7	DYH1_HUMAN	1287	V	G	Disease	Spermatogenic failure 18 (SPGF18) [MIM:617576]
Q9P2D7	DYH1_HUMAN	2150	V	M	Unclassified	Spermatogenic failure 18 (SPGF18) [MIM:617576]
Q9P2D7	DYH1_HUMAN	3832	H	R	Polymorphism	-
Q9P2D7	DYH1_HUMAN	1293	D	N	Disease	Spermatogenic failure 18 (SPGF18) [MIM:617576]
Q9P2D7	DYH1_HUMAN	2071	L	R	Unclassified	Spermatogenic failure 18 (SPGF18) [MIM:617576]
Q9P2D7	DYH1_HUMAN	4096	R	L	Unclassified	Spermatogenic failure 18 (SPGF18) [MIM:617576]
Q9P2D7	DYH1_HUMAN	4174	A	T	Unclassified	Spermatogenic failure 18 (SPGF18) [MIM:617576]
Q9P2D7	DYH1_HUMAN	3229	R	C	Unclassified	Spermatogenic failure 18 (SPGF18) [MIM:617576]
Q9P2D8	UNC79_HUMAN	2183	K	R	Polymorphism	-
Q9P2D8	UNC79_HUMAN	2444	G	S	Polymorphism	-
Q9P2D8	UNC79_HUMAN	1670	V	I	Polymorphism	-
Q9P2D8	UNC79_HUMAN	1597	V	A	Polymorphism	-
Q9P2E2	KIF17_HUMAN	735	V	I	Polymorphism	-
Q9P2E2	KIF17_HUMAN	402	V	M	Polymorphism	-
Q9P2E2	KIF17_HUMAN	341	I	V	Polymorphism	-
Q9P2E2	KIF17_HUMAN	369	S	R	Polymorphism	-
Q9P2E2	KIF17_HUMAN	933	D	E	Polymorphism	-
Q9P2E2	KIF17_HUMAN	675	V	I	Polymorphism	-
Q9P2E3	ZNFX1_HUMAN	1351	T	I	Polymorphism	-
Q9P2E3	ZNFX1_HUMAN	924	Q	H	Polymorphism	-
Q9P2E3	ZNFX1_HUMAN	1297	G	S	Polymorphism	-
Q9P2E3	ZNFX1_HUMAN	1259	M	I	Polymorphism	-
Q9P2E3	ZNFX1_HUMAN	910	T	A	Polymorphism	-
Q9P2E3	ZNFX1_HUMAN	864	L	V	Polymorphism	-
Q9P2E9	RRBP1_HUMAN	1324	R	L	Polymorphism	-
Q9P2F6	RHG20_HUMAN	522	A	T	Polymorphism	-
Q9P2F6	RHG20_HUMAN	632	G	D	Polymorphism	-
Q9P2F8	SI1L2_HUMAN	1403	S	L	Polymorphism	-
Q9P2F8	SI1L2_HUMAN	49	T	A	Polymorphism	-
Q9P2F8	SI1L2_HUMAN	1639	G	S	Polymorphism	-
Q9P2F8	SI1L2_HUMAN	1424	M	L	Polymorphism	-
Q9P2F8	SI1L2_HUMAN	1322	T	A	Polymorphism	-
Q9P2G1	AKIB1_HUMAN	1016	L	M	Polymorphism	-
Q9P2G9	KLHL8_HUMAN	520	P	R	Polymorphism	-
Q9P2H0	CE126_HUMAN	281	I	T	Polymorphism	-
Q9P2H0	CE126_HUMAN	275	S	Y	Polymorphism	-
Q9P2H0	CE126_HUMAN	238	G	C	Polymorphism	-
Q9P2H0	CE126_HUMAN	178	A	T	Polymorphism	-
Q9P2H0	CE126_HUMAN	710	P	S	Polymorphism	-
Q9P2H0	CE126_HUMAN	1021	M	T	Polymorphism	-
Q9P2H0	CE126_HUMAN	302	A	T	Polymorphism	-
Q9P2H0	CE126_HUMAN	1077	S	N	Polymorphism	-
Q9P2H0	CE126_HUMAN	668	G	S	Polymorphism	-
Q9P2H3	IFT80_HUMAN	701	A	P	Disease	Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263]
Q9P2H3	IFT80_HUMAN	586	T	S	Polymorphism	-
Q9P2H3	IFT80_HUMAN	105	H	Q	Disease	Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263]
Q9P2H5	UBP35_HUMAN	236	V	M	Polymorphism	-
Q9P2J2	TUTLA_HUMAN	1117	P	T	Polymorphism	-
Q9P2J2	TUTLA_HUMAN	474	R	P	Polymorphism	-
Q9P2J2	TUTLA_HUMAN	1026	S	T	Polymorphism	-
Q9P2J2	TUTLA_HUMAN	34	G	E	Polymorphism	-
Q9P2J2	TUTLA_HUMAN	914	P	L	Polymorphism	-
Q9P2J5	SYLC_HUMAN	82	K	R	Polymorphism	-
Q9P2J5	SYLC_HUMAN	373	Y	C	Disease	Infantile liver failure syndrome 1 (ILFS1) [MIM:615438]
Q9P2J5	SYLC_HUMAN	1088	R	K	Polymorphism	-
Q9P2J8	ZN624_HUMAN	135	K	N	Polymorphism	-
Q9P2J8	ZN624_HUMAN	558	C	S	Unclassified	A colorectal cancer sample
Q9P2K1	C2D2A_HUMAN	721	P	S	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1116	T	M	Disease	COACH syndrome (COACHS) [MIM:216360]
Q9P2K1	C2D2A_HUMAN	1556	D	V	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1520	N	S	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1126	E	K	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1447	E	A	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1568	Y	H	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1114	T	M	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1116	T	M	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	117	S	R	Unclassified	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1151	V	A	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1182	W	R	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	559	L	P	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	800	K	E	Polymorphism	-
Q9P2K1	C2D2A_HUMAN	1528	R	C	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1551	L	P	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1517	T	S	Unclassified	Meckel syndrome 6 (MKS6) [MIM:612284]
Q9P2K1	C2D2A_HUMAN	684	L	I	Polymorphism	-
Q9P2K1	C2D2A_HUMAN	1430	V	A	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1284	R	H	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1114	T	M	Disease	Meckel syndrome 6 (MKS6) [MIM:612284]
Q9P2K1	C2D2A_HUMAN	701	L	V	Polymorphism	-
Q9P2K1	C2D2A_HUMAN	507	K	E	Unclassified	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1330	R	Q	Unclassified	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1284	R	C	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1045	V	A	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	376	E	A	Polymorphism	-
Q9P2K1	C2D2A_HUMAN	660	V	I	Polymorphism	-
Q9P2K1	C2D2A_HUMAN	1528	R	C	Disease	COACH syndrome (COACHS) [MIM:216360]
Q9P2K1	C2D2A_HUMAN	1096	Q	H	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1	C2D2A_HUMAN	1122	P	S	Disease	Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K2	TXD16_HUMAN	486	E	K	Polymorphism	-
Q9P2K2	TXD16_HUMAN	136	S	N	Polymorphism	-
Q9P2K2	TXD16_HUMAN	152	N	Y	Polymorphism	-
Q9P2K3	RCOR3_HUMAN	42	K	R	Polymorphism	-
Q9P2K5	MYEF2_HUMAN	465	S	G	Polymorphism	-
Q9P2K5	MYEF2_HUMAN	426	Q	R	Polymorphism	-
Q9P2K5	MYEF2_HUMAN	91	A	T	Polymorphism	-
Q9P2K8	E2AK4_HUMAN	872	D	V	Polymorphism	-
Q9P2K8	E2AK4_HUMAN	1306	G	C	Polymorphism	-
Q9P2K8	E2AK4_HUMAN	939	H	Y	Unclassified	A lung neuroendocrine carcinoma sample
Q9P2K8	E2AK4_HUMAN	1406	Q	H	Polymorphism	-
Q9P2K8	E2AK4_HUMAN	1060	T	R	Polymorphism	-
Q9P2K8	E2AK4_HUMAN	137	H	R	Polymorphism	-
Q9P2K8	E2AK4_HUMAN	166	R	W	Polymorphism	-
Q9P2K8	E2AK4_HUMAN	643	L	R	Disease	Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) [MIM:234810]
Q9P2K8	E2AK4_HUMAN	585	R	Q	Disease	Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) [MIM:234810]
Q9P2K8	E2AK4_HUMAN	441	I	L	Polymorphism	-
Q9P2K8	E2AK4_HUMAN	1336	K	R	Polymorphism	-
Q9P2K9	DISP3_HUMAN	182	G	S	Polymorphism	-
Q9P2K9	DISP3_HUMAN	39	G	R	Polymorphism	-
Q9P2K9	DISP3_HUMAN	650	A	T	Polymorphism	-
Q9P2K9	DISP3_HUMAN	661	G	A	Polymorphism	-
Q9P2K9	DISP3_HUMAN	948	R	H	Polymorphism	-
Q9P2K9	DISP3_HUMAN	51	L	V	Polymorphism	-
Q9P2L0	WDR35_HUMAN	878	A	T	Polymorphism	-
Q9P2L0	WDR35_HUMAN	478	R	K	Disease	Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) [MIM:614091]
Q9P2L0	WDR35_HUMAN	261	W	R	Disease	Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) [MIM:614091]
Q9P2L0	WDR35_HUMAN	311	W	L	Disease	Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) [MIM:614091]
Q9P2L0	WDR35_HUMAN	311	W	L	Disease	Short-rib thoracic dysplasia 7/20 with polydactyly, digenic (SRTD7/20) [MIM:614091]
Q9P2L0	WDR35_HUMAN	878	A	P	Polymorphism	-
Q9P2L0	WDR35_HUMAN	875	A	T	Disease	Cranioectodermal dysplasia 2 (CED2) [MIM:613610]
Q9P2L0	WDR35_HUMAN	983	E	G	Polymorphism	-
Q9P2L0	WDR35_HUMAN	18	Q	R	Polymorphism	-
Q9P2L0	WDR35_HUMAN	626	E	G	Disease	Cranioectodermal dysplasia 2 (CED2) [MIM:613610]
Q9P2M4	TBC14_HUMAN	446	E	Q	Polymorphism	-
Q9P2M4	TBC14_HUMAN	41	L	V	Polymorphism	-
Q9P2M7	CING_HUMAN	479	R	Q	Polymorphism	-
Q9P2N2	RHG28_HUMAN	727	Q	P	Polymorphism	-
Q9P2N2	RHG28_HUMAN	190	T	S	Polymorphism	-
Q9P2N2	RHG28_HUMAN	168	I	V	Polymorphism	-
Q9P2N4	ATS9_HUMAN	1791	E	Q	Polymorphism	-
Q9P2N4	ATS9_HUMAN	1579	K	E	Polymorphism	-
Q9P2N4	ATS9_HUMAN	1674	D	E	Polymorphism	-
Q9P2N4	ATS9_HUMAN	1740	K	R	Polymorphism	-
Q9P2N4	ATS9_HUMAN	96	S	P	Polymorphism	-
Q9P2N4	ATS9_HUMAN	96	S	T	Polymorphism	-
Q9P2N4	ATS9_HUMAN	1933	R	Q	Polymorphism	-
Q9P2N4	ATS9_HUMAN	1921	K	E	Polymorphism	-
Q9P2N6	KANL3_HUMAN	707	V	I	Polymorphism	-
Q9P2N7	KLH13_HUMAN	261	T	S	Polymorphism	-
Q9P2N7	KLH13_HUMAN	223	F	I	Unclassified	-
Q9P2P1	NYNRI_HUMAN	659	A	V	Polymorphism	-
Q9P2P1	NYNRI_HUMAN	1551	I	V	Polymorphism	-
Q9P2P1	NYNRI_HUMAN	978	A	T	Polymorphism	-
Q9P2P1	NYNRI_HUMAN	997	E	K	Polymorphism	-
Q9P2P1	NYNRI_HUMAN	457	T	M	Polymorphism	-
Q9P2P5	HECW2_HUMAN	1193	F	V	Disease	Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268]
Q9P2P5	HECW2_HUMAN	1191	R	Q	Disease	Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268]
Q9P2P5	HECW2_HUMAN	1445	E	G	Disease	Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268]
Q9P2P5	HECW2_HUMAN	1330	R	W	Disease	Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268]
Q9P2P6	STAR9_HUMAN	3383	N	D	Polymorphism	-
Q9P2P6	STAR9_HUMAN	3469	Y	C	Polymorphism	-
Q9P2P6	STAR9_HUMAN	2205	A	V	Polymorphism	-
Q9P2P6	STAR9_HUMAN	2869	P	S	Polymorphism	-
Q9P2P6	STAR9_HUMAN	2855	T	I	Polymorphism	-
Q9P2P6	STAR9_HUMAN	835	R	C	Polymorphism	-
Q9P2P6	STAR9_HUMAN	2677	R	H	Polymorphism	-
Q9P2P6	STAR9_HUMAN	1720	P	L	Polymorphism	-
Q9P2P6	STAR9_HUMAN	3015	R	G	Polymorphism	-
Q9P2P6	STAR9_HUMAN	1172	R	C	Polymorphism	-
Q9P2Q2	FRM4A_HUMAN	242	Q	H	Polymorphism	-
Q9P2R6	RERE_HUMAN	1431	H	Q	Unclassified	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) [MIM:616975]
Q9P2R6	RERE_HUMAN	1262	P	R	Unclassified	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) [MIM:616975]
Q9P2R6	RERE_HUMAN	471	V	I	Unclassified	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) [MIM:616975]
Q9P2R6	RERE_HUMAN	1156	G	R	Unclassified	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) [MIM:616975]
Q9P2R7	SUCB1_HUMAN	118	G	R	Disease	Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073]
Q9P2R7	SUCB1_HUMAN	199	S	T	Polymorphism	-
Q9P2R7	SUCB1_HUMAN	284	R	C	Disease	Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073]
Q9P2R7	SUCB1_HUMAN	13	V	M	Polymorphism	-
Q9P2R7	SUCB1_HUMAN	251	D	N	Disease	Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073]
Q9P2S2	NRX2A_HUMAN	81	L	Q	Polymorphism	-
Q9P2S5	WRP73_HUMAN	358	V	I	Polymorphism	-
Q9P2S5	WRP73_HUMAN	331	I	M	Polymorphism	-
Q9P2S6	ANKY1_HUMAN	451	D	V	Polymorphism	-
Q9P2S6	ANKY1_HUMAN	649	T	M	Polymorphism	-
Q9P2S6	ANKY1_HUMAN	472	V	L	Polymorphism	-
Q9P2S6	ANKY1_HUMAN	424	I	M	Polymorphism	-
Q9P2S6	ANKY1_HUMAN	89	D	N	Polymorphism	-
Q9P2T0	THEG_HUMAN	297	H	Y	Polymorphism	-
Q9P2T0	THEG_HUMAN	353	D	N	Polymorphism	-
Q9P2T0	THEG_HUMAN	202	R	I	Polymorphism	-
Q9P2T0	THEG_HUMAN	267	R	Q	Polymorphism	-
Q9P2T1	GMPR2_HUMAN	242	G	D	Polymorphism	-
Q9P2U7	VGLU1_HUMAN	431	P	R	Polymorphism	-
Q9P2U8	VGLU2_HUMAN	40	T	S	Unclassified	A breast cancer sample
Q9P2U8	VGLU2_HUMAN	551	N	S	Polymorphism	-
Q9P2V4	LRIT1_HUMAN	258	P	Q	Polymorphism	-
Q9P2V4	LRIT1_HUMAN	389	P	T	Polymorphism	-
Q9P2V4	LRIT1_HUMAN	154	L	M	Polymorphism	-
Q9P2V4	LRIT1_HUMAN	591	S	G	Polymorphism	-
Q9P2W1	HOP2_HUMAN	163	Y	N	Polymorphism	-
Q9P2W7	B3GA1_HUMAN	131	A	T	Polymorphism	-
Q9P2W9	STX18_HUMAN	51	S	G	Polymorphism	-
Q9P2W9	STX18_HUMAN	228	S	T	Polymorphism	-
Q9P2W9	STX18_HUMAN	32	D	Y	Polymorphism	-
Q9P2X0	DPM3_HUMAN	85	L	S	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C15 (MDDGC15) [MIM:612937]
Q9P2X3	IMPCT_HUMAN	151	L	V	Polymorphism	-
Q9P2X3	IMPCT_HUMAN	125	D	E	Polymorphism	-
Q9P2X3	IMPCT_HUMAN	74	A	V	Polymorphism	-
Q9P2X7	DEC1_HUMAN	60	A	V	Polymorphism	-
Q9P2Y4	ZN219_HUMAN	260	P	T	Polymorphism	-
Q9P2Y5	UVRAG_HUMAN	10	P	H	Polymorphism	-
Q9TNN7	1C05_HUMAN	76	V	M	Polymorphism	-
Q9TNN7	1C05_HUMAN	73	A	E	Polymorphism	-
Q9TNN7	1C05_HUMAN	140	F	S	Polymorphism	-
Q9TNN7	1C05_HUMAN	272	V	M	Polymorphism	-
Q9TNN7	1C05_HUMAN	90	K	N	Polymorphism	-
Q9TNN7	1C05_HUMAN	201	K	E	Polymorphism	-
Q9TNN7	1C05_HUMAN	218	V	I	Polymorphism	-
Q9TNN7	1C05_HUMAN	223	A	V	Polymorphism	-
Q9TNN7	1C05_HUMAN	138	N	D	Polymorphism	-
Q9TQE0	2B19_HUMAN	262	T	R	Polymorphism	-
Q9TQE0	2B19_HUMAN	5	K	R	Polymorphism	-
Q9UBB6	NCDN_HUMAN	392	V	L	Unclassified	A colorectal cancer sample
Q9UBB6	NCDN_HUMAN	392	V	E	Unclassified	A colorectal cancer sample
Q9UBB9	TFP11_HUMAN	177	N	S	Polymorphism	-
Q9UBC0	HNF6_HUMAN	75	P	A	Polymorphism	-
Q9UBC1	IKBL1_HUMAN	224	C	R	Polymorphism	-
Q9UBC3	DNM3B_HUMAN	585	A	T	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	603	A	T	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	270	S	P	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	54	R	P	Polymorphism	-
Q9UBC3	DNM3B_HUMAN	699	V	G	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	606	V	A	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	527	C	R	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
Q9UBC3	DNM3B_HUMAN	814	H	R	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	817	D	G	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	840	R	Q	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	691	P	L	Disease	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]
Q9UBC3	DNM3B_HUMAN	664	L	P	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	766	A	P	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	836	V	M	Unclassified	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	726	V	G	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	585	A	V	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	663	G	S	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3	DNM3B_HUMAN	818	V	M	Disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC5	MYO1A_HUMAN	910	S	P	Unclassified	-
Q9UBC5	MYO1A_HUMAN	426	P	L	Polymorphism	-
Q9UBC5	MYO1A_HUMAN	996	T	I	Polymorphism	-
Q9UBC5	MYO1A_HUMAN	306	V	M	Unclassified	-
Q9UBC5	MYO1A_HUMAN	506	C	S	Polymorphism	-
Q9UBC5	MYO1A_HUMAN	600	F	L	Polymorphism	-
Q9UBC5	MYO1A_HUMAN	674	G	D	Unclassified	-
Q9UBC5	MYO1A_HUMAN	662	G	E	Polymorphism	-
Q9UBC5	MYO1A_HUMAN	797	S	F	Unclassified	-
Q9UBC5	MYO1A_HUMAN	385	E	D	Unclassified	-
Q9UBC7	GALP_HUMAN	72	I	M	Polymorphism	-
Q9UBC9	SPRR3_HUMAN	156	T	M	Polymorphism	-
Q9UBC9	SPRR3_HUMAN	149	L	V	Polymorphism	-
Q9UBD3	XCL2_HUMAN	29	R	K	Polymorphism	-
Q9UBD3	XCL2_HUMAN	28	H	D	Polymorphism	-
Q9UBD5	ORC3_HUMAN	287	T	M	Polymorphism	-
Q9UBD5	ORC3_HUMAN	247	I	V	Polymorphism	-
Q9UBD5	ORC3_HUMAN	588	R	C	Polymorphism	-
Q9UBD5	ORC3_HUMAN	217	V	I	Polymorphism	-
Q9UBD5	ORC3_HUMAN	126	Q	R	Polymorphism	-
Q9UBD5	ORC3_HUMAN	626	A	T	Polymorphism	-
Q9UBD5	ORC3_HUMAN	389	T	P	Polymorphism	-
Q9UBD5	ORC3_HUMAN	94	Q	K	Polymorphism	-
Q9UBD6	RHCG_HUMAN	202	R	C	Polymorphism	-
Q9UBD9	CLCF1_HUMAN	197	R	L	Disease	Crisponi/Cold-induced sweating syndrome 2 (CISS2) [MIM:610313]
Q9UBE8	NLK_HUMAN	343	A	T	Unclassified	A glioblastoma multiforme sample
Q9UBE8	NLK_HUMAN	177	V	A	Polymorphism	-
Q9UBF1	MAGC2_HUMAN	6	G	C	Unclassified	A breast cancer sample
Q9UBF2	COPG2_HUMAN	547	I	L	Polymorphism	-
Q9UBF2	COPG2_HUMAN	626	P	L	Polymorphism	-
Q9UBF9	MYOTI_HUMAN	60	S	C	Disease	Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]
Q9UBF9	MYOTI_HUMAN	60	S	F	Disease	Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]
Q9UBF9	MYOTI_HUMAN	57	T	I	Disease	Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]
Q9UBF9	MYOTI_HUMAN	39	S	F	Disease	Spheroid body myopathy (SBM) [MIM:182920]
Q9UBF9	MYOTI_HUMAN	55	S	F	Disease	Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]
Q9UBF9	MYOTI_HUMAN	95	S	I	Disease	Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]
Q9UBF9	MYOTI_HUMAN	74	K	Q	Polymorphism	-
Q9UBF9	MYOTI_HUMAN	50	Q	R	Polymorphism	-
Q9UBF9	MYOTI_HUMAN	55	S	F	Disease	Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]
Q9UBF9	MYOTI_HUMAN	33	S	I	Unclassified	A colorectal cancer sample
Q9UBG0	MRC2_HUMAN	1156	R	H	Polymorphism	-
Q9UBG0	MRC2_HUMAN	43	V	I	Polymorphism	-
Q9UBG3	CRNN_HUMAN	480	G	S	Polymorphism	-
Q9UBG3	CRNN_HUMAN	27	A	V	Polymorphism	-
Q9UBG3	CRNN_HUMAN	374	Q	H	Polymorphism	-
Q9UBH0	I36RA_HUMAN	27	L	P	Disease	Psoriasis 14, pustular (PSORS14) [MIM:614204]
Q9UBH0	I36RA_HUMAN	123	T	R	Disease	Psoriasis 14, pustular (PSORS14) [MIM:614204]
Q9UBH0	I36RA_HUMAN	113	S	L	Disease	Psoriasis 14, pustular (PSORS14) [MIM:614204]
Q9UBH0	I36RA_HUMAN	47	N	S	Polymorphism	-
Q9UBH0	I36RA_HUMAN	48	R	W	Disease	Psoriasis 14, pustular (PSORS14) [MIM:614204]
Q9UBH6	XPR1_HUMAN	136	S	N	Disease	Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413]
Q9UBH6	XPR1_HUMAN	491	T	A	Polymorphism	-
Q9UBH6	XPR1_HUMAN	218	L	S	Disease	Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413]
Q9UBH6	XPR1_HUMAN	140	L	P	Disease	Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413]
Q9UBH6	XPR1_HUMAN	145	L	P	Disease	Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413]
Q9UBI1	COMD3_HUMAN	18	R	G	Polymorphism	-
Q9UBJ2	ABCD2_HUMAN	244	Q	K	Unclassified	A pancreatic ductal adenocarcinoma sample
Q9UBK2	PRGC1_HUMAN	482	G	S	Polymorphism	-
Q9UBK2	PRGC1_HUMAN	612	T	M	Polymorphism	-
Q9UBK8	MTRR_HUMAN	415	R	C	Polymorphism	-
Q9UBK8	MTRR_HUMAN	450	P	R	Polymorphism	-
Q9UBK8	MTRR_HUMAN	22	I	M	Polymorphism	-
Q9UBK8	MTRR_HUMAN	487	G	R	Disease	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]
Q9UBK8	MTRR_HUMAN	350	K	R	Polymorphism	-
Q9UBK8	MTRR_HUMAN	129	A	T	Disease	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]
Q9UBK8	MTRR_HUMAN	405	C	R	Disease	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]
Q9UBK8	MTRR_HUMAN	554	G	R	Disease	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]
Q9UBK8	MTRR_HUMAN	515	A	V	Polymorphism	-
Q9UBK8	MTRR_HUMAN	175	S	L	Polymorphism	-
Q9UBK8	MTRR_HUMAN	333	L	V	Polymorphism	-
Q9UBK8	MTRR_HUMAN	56	V	M	Disease	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]
Q9UBK8	MTRR_HUMAN	257	S	T	Polymorphism	-
Q9UBK8	MTRR_HUMAN	595	H	Y	Polymorphism	-
Q9UBL3	ASH2L_HUMAN	478	S	F	Polymorphism	-
Q9UBL6	CPNE7_HUMAN	633	P	L	Polymorphism	-
Q9UBL6	CPNE7_HUMAN	507	K	E	Polymorphism	-
Q9UBL6	CPNE7_HUMAN	397	R	Q	Polymorphism	-
Q9UBL6	CPNE7_HUMAN	77	F	L	Polymorphism	-
Q9UBL9	P2RX2_HUMAN	60	V	L	Disease	Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224]
Q9UBL9	P2RX2_HUMAN	353	G	R	Disease	Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224]
Q9UBM1	PEMT_HUMAN	175	V	M	Polymorphism	-
Q9UBM1	PEMT_HUMAN	194	G	R	Polymorphism	-
Q9UBM1	PEMT_HUMAN	58	V	I	Polymorphism	-
Q9UBM1	PEMT_HUMAN	3	R	W	Polymorphism	-
Q9UBM1	PEMT_HUMAN	58	V	L	Polymorphism	-
Q9UBM4	OPT_HUMAN	182	I	T	Polymorphism	-
Q9UBM4	OPT_HUMAN	325	R	W	Polymorphism	-
Q9UBM4	OPT_HUMAN	229	R	C	Polymorphism	-
Q9UBM7	DHCR7_HUMAN	380	C	R	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	311	C	G	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	362	R	C	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	344	G	R	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	404	R	S	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	353	V	A	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	147	G	D	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	324	Y	H	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	138	G	V	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	446	R	Q	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	397	S	L	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	154	T	M	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	443	R	C	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	297	I	T	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	380	C	S	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	311	C	Y	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	380	C	Y	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	404	R	C	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	248	W	C	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	182	W	C	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	182	W	L	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	410	G	S	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	242	R	H	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	352	R	Q	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	425	G	S	Polymorphism	-
Q9UBM7	DHCR7_HUMAN	113	S	C	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	68	L	P	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	169	S	L	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	448	E	K	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	450	R	L	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	242	R	C	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	410	G	R	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	183	C	Y	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	352	R	W	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	157	L	P	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	448	E	Q	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	109	L	P	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	198	K	E	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	235	F	S	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	5	S	L	Polymorphism	-
Q9UBM7	DHCR7_HUMAN	51	P	S	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	99	L	P	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	145	I	L	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	281	V	M	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	118	C	R	Polymorphism	-
Q9UBM7	DHCR7_HUMAN	408	Y	H	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	119	H	L	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	244	G	R	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	405	H	Y	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	107	Q	H	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	326	V	L	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	289	T	I	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	426	H	P	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	247	A	V	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	255	F	L	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7	DHCR7_HUMAN	93	T	M	Disease	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM8	MGT4C_HUMAN	428	T	S	Polymorphism	-
Q9UBN4	TRPC4_HUMAN	138	E	K	Unclassified	A breast cancer sample
Q9UBN6	TR10D_HUMAN	276	R	H	Polymorphism	-
Q9UBN6	TR10D_HUMAN	345	T	P	Polymorphism	-
Q9UBN6	TR10D_HUMAN	35	P	S	Polymorphism	-
Q9UBN6	TR10D_HUMAN	310	S	L	Polymorphism	-
Q9UBN7	HDAC6_HUMAN	994	T	I	Polymorphism	-
Q9UBN7	HDAC6_HUMAN	1200	N	D	Polymorphism	-
Q9UBP0	SPAST_HUMAN	380	L	H	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	368	F	V	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	360	L	V	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	314	L	S	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	366	E	K	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	364	R	T	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	503	R	L	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	595	S	R	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	470	D	Y	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	409	A	T	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	559	G	R	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	378	L	R	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	551	A	Y	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	390	M	T	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	372	R	G	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	362	S	C	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	382	G	R	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	607	W	C	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	460	R	L	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	386	N	Y	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	410	S	R	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	424	R	G	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	584	D	H	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	448	C	Y	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	562	R	P	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	201	V	D	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	97	P	T	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	441	D	G	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	293	P	L	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	556	A	V	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	413	S	L	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	559	G	D	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	426	L	F	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	550	T	I	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	460	R	C	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	95	A	T	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	534	L	P	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	391	L	P	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	372	R	T	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	436	S	F	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	555	D	N	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	489	P	L	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	328	I	L	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	406	I	R	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	229	S	G	Polymorphism	-
Q9UBP0	SPAST_HUMAN	470	D	V	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	482	V	L	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	562	R	G	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	562	R	Q	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	386	N	K	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	344	I	K	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	499	R	C	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	445	S	N	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	436	S	P	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	365	P	S	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	458	S	R	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	461	L	P	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	406	I	V	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	423	V	L	Unclassified	A breast cancer sample
Q9UBP0	SPAST_HUMAN	364	R	M	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	464	E	A	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	45	P	Q	Polymorphism	-
Q9UBP0	SPAST_HUMAN	460	R	S	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	503	R	W	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	386	N	S	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	463	T	A	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	418	E	A	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	441	D	N	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	615	T	I	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	614	T	I	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	498	R	G	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	309	R	H	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	498	R	M	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	422	L	F	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	363	L	P	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	370	G	R	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	399	S	L	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	381	F	C	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	328	I	K	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	195	L	V	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	555	D	G	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	499	R	H	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	435	P	L	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	356	E	K	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	534	L	V	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	388	K	R	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	162	V	I	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	579	N	H	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	493	D	G	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	407	S	I	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	426	L	V	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	407	S	R	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	347	Q	K	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	390	M	V	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	377	G	E	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	454	E	K	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	44	S	L	Polymorphism	-
Q9UBP0	SPAST_HUMAN	514	R	G	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	378	L	Q	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	485	A	T	Unclassified	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	580	I	T	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	512	E	D	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	485	A	V	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	368	F	L	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	361	P	L	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	459	R	G	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	450	R	S	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	441	D	V	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP0	SPAST_HUMAN	492	L	F	Disease	Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]
Q9UBP4	DKK3_HUMAN	335	R	G	Polymorphism	-
Q9UBP4	DKK3_HUMAN	49	E	D	Polymorphism	-
Q9UBP5	HEY2_HUMAN	98	D	A	Unclassified	-
Q9UBP5	HEY2_HUMAN	96	T	A	Polymorphism	-
Q9UBP5	HEY2_HUMAN	100	L	S	Unclassified	-
Q9UBP5	HEY2_HUMAN	140	V	M	Polymorphism	-
Q9UBQ7	GRHPR_HUMAN	170	R	Q	Polymorphism	-
Q9UBR1	BUP1_HUMAN	271	E	K	Disease	Beta-ureidopropionase deficiency (UPB1D) [MIM:613161]
Q9UBR1	BUP1_HUMAN	286	I	T	Unclassified	Beta-ureidopropionase deficiency (UPB1D) [MIM:613161]
Q9UBR1	BUP1_HUMAN	326	R	Q	Disease	Beta-ureidopropionase deficiency (UPB1D) [MIM:613161]
Q9UBR1	BUP1_HUMAN	359	T	M	Disease	Beta-ureidopropionase deficiency (UPB1D) [MIM:613161]
Q9UBR1	BUP1_HUMAN	264	S	R	Disease	Beta-ureidopropionase deficiency (UPB1D) [MIM:613161]
Q9UBR1	BUP1_HUMAN	85	A	E	Disease	Beta-ureidopropionase deficiency (UPB1D) [MIM:613161]
Q9UBR1	BUP1_HUMAN	340	A	D	Polymorphism	-
Q9UBR1	BUP1_HUMAN	236	R	W	Disease	Beta-ureidopropionase deficiency (UPB1D) [MIM:613161]
Q9UBR1	BUP1_HUMAN	13	L	S	Disease	Beta-ureidopropionase deficiency (UPB1D) [MIM:613161]
Q9UBR1	BUP1_HUMAN	235	G	R	Disease	Beta-ureidopropionase deficiency (UPB1D) [MIM:613161]
Q9UBR2	CATZ_HUMAN	36	P	S	Polymorphism	-
Q9UBR2	CATZ_HUMAN	286	A	T	Polymorphism	-
Q9UBR2	CATZ_HUMAN	129	A	R	Unclassified	-
Q9UBR4	LHX3_HUMAN	111	Y	C	Disease	Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750]
Q9UBR4	LHX3_HUMAN	210	A	V	Disease	Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750]
Q9UBR4	LHX3_HUMAN	141	C	F	Unclassified	Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750]
Q9UBS0	KS6B2_HUMAN	368	V	M	Polymorphism	-
Q9UBS0	KS6B2_HUMAN	420	A	V	Polymorphism	-
Q9UBS0	KS6B2_HUMAN	267	P	L	Polymorphism	-
Q9UBS0	KS6B2_HUMAN	443	T	M	Unclassified	An ovarian mucinous carcinoma sample
Q9UBS3	DNJB9_HUMAN	136	R	H	Polymorphism	-
Q9UBS4	DJB11_HUMAN	54	P	R	Disease	Polycystic kidney disease 6 with or without polycystic liver disease (PKD6) [MIM:618061]
Q9UBS4	DJB11_HUMAN	77	L	P	Disease	Polycystic kidney disease 6 with or without polycystic liver disease (PKD6) [MIM:618061]
Q9UBS4	DJB11_HUMAN	264	I	V	Polymorphism	-
Q9UBS5	GABR1_HUMAN	645	F	L	Polymorphism	-
Q9UBS5	GABR1_HUMAN	489	G	S	Polymorphism	-
Q9UBS5	GABR1_HUMAN	20	A	V	Polymorphism	-
Q9UBT2	SAE2_HUMAN	307	L	R	Polymorphism	-
Q9UBT6	POLK_HUMAN	832	S	N	Polymorphism	-
Q9UBT6	POLK_HUMAN	595	T	I	Polymorphism	-
Q9UBT6	POLK_HUMAN	612	I	V	Polymorphism	-
Q9UBT6	POLK_HUMAN	635	S	N	Polymorphism	-
Q9UBT6	POLK_HUMAN	423	S	R	Polymorphism	-
Q9UBT7	CTNL1_HUMAN	527	E	Q	Polymorphism	-
Q9UBT7	CTNL1_HUMAN	555	D	E	Polymorphism	-
Q9UBT7	CTNL1_HUMAN	716	M	R	Polymorphism	-
Q9UBT7	CTNL1_HUMAN	91	N	T	Polymorphism	-
Q9UBT7	CTNL1_HUMAN	203	E	K	Polymorphism	-
Q9UBT7	CTNL1_HUMAN	424	T	S	Polymorphism	-
Q9UBT7	CTNL1_HUMAN	593	I	N	Polymorphism	-
Q9UBU2	DKK2_HUMAN	146	R	Q	Polymorphism	-
Q9UBU3	GHRL_HUMAN	72	L	M	Polymorphism	-
Q9UBU3	GHRL_HUMAN	90	Q	L	Polymorphism	-
Q9UBU7	DBF4A_HUMAN	112	Y	N	Polymorphism	-
Q9UBU7	DBF4A_HUMAN	575	H	R	Polymorphism	-
Q9UBV2	SE1L1_HUMAN	162	D	G	Polymorphism	-
Q9UBV2	SE1L1_HUMAN	714	V	I	Polymorphism	-
Q9UBV4	WNT16_HUMAN	82	G	R	Polymorphism	-
Q9UBV4	WNT16_HUMAN	263	T	I	Polymorphism	-
Q9UBV4	WNT16_HUMAN	126	V	M	Unclassified	A colorectal cancer sample
Q9UBV7	B4GT7_HUMAN	186	A	D	Disease	Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) [MIM:130070]
Q9UBV7	B4GT7_HUMAN	206	L	P	Disease	Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) [MIM:130070]
Q9UBW5	BIN2_HUMAN	529	N	D	Polymorphism	-
Q9UBW5	BIN2_HUMAN	48	S	N	Polymorphism	-
Q9UBX0	HESX1_HUMAN	181	T	A	Disease	Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]
Q9UBX0	HESX1_HUMAN	160	R	C	Disease	Septooptic dysplasia (SOD) [MIM:182230]
Q9UBX0	HESX1_HUMAN	6	Q	H	Disease	Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230]
Q9UBX0	HESX1_HUMAN	170	S	L	Disease	Septooptic dysplasia (SOD) [MIM:182230]
Q9UBX0	HESX1_HUMAN	109	R	Q	Unclassified	Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230]
Q9UBX0	HESX1_HUMAN	149	E	K	Disease	Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]
Q9UBX0	HESX1_HUMAN	125	N	S	Polymorphism	-
Q9UBX0	HESX1_HUMAN	26	I	T	Disease	Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230]
Q9UBX1	CATF_HUMAN	153	Q	R	Polymorphism	-
Q9UBX1	CATF_HUMAN	458	G	A	Disease	Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362]
Q9UBX1	CATF_HUMAN	321	Q	R	Disease	Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362]
Q9UBX1	CATF_HUMAN	231	Y	C	Disease	Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362]
Q9UBX1	CATF_HUMAN	480	S	L	Disease	Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362]
Q9UBX5	FBLN5_HUMAN	124	Q	P	Disease	Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	169	I	T	Disease	Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	227	S	P	Disease	Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100]
Q9UBX5	FBLN5_HUMAN	87	P	S	Disease	Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	412	G	E	Disease	Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	351	R	W	Disease	Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	60	V	L	Disease	Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	363	A	T	Disease	Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	71	R	Q	Disease	Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	364	D	Y	Polymorphism	-
Q9UBX5	FBLN5_HUMAN	373	R	C	Disease	Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	202	G	R	Polymorphism	-
Q9UBX5	FBLN5_HUMAN	90	G	S	Disease	Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	48	T	I	Disease	Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	301	L	M	Unclassified	-
Q9UBX5	FBLN5_HUMAN	267	G	S	Disease	Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100]
Q9UBX5	FBLN5_HUMAN	126	V	M	Polymorphism	-
Q9UBX5	FBLN5_HUMAN	267	G	S	Disease	Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]
Q9UBX5	FBLN5_HUMAN	217	C	R	Disease	Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100]
Q9UBX5	FBLN5_HUMAN	267	G	S	Disease	Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895]
Q9UBX7	KLK11_HUMAN	32	A	T	Polymorphism	-
Q9UBX7	KLK11_HUMAN	166	R	C	Polymorphism	-
Q9UBX7	KLK11_HUMAN	49	G	E	Polymorphism	-
Q9UBX8	B4GT6_HUMAN	379	I	V	Polymorphism	-
Q9UBY0	SL9A2_HUMAN	806	R	Q	Unclassified	A breast cancer sample
Q9UBY0	SL9A2_HUMAN	299	T	S	Unclassified	A breast cancer sample
Q9UBY5	LPAR3_HUMAN	231	R	Q	Polymorphism	-
Q9UBY8	CLN8_HUMAN	263	W	C	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	158	Y	C	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	207	L	R	Unclassified	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	70	R	H	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	16	L	M	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	170	T	M	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	229	P	A	Polymorphism	-
Q9UBY8	CLN8_HUMAN	30	A	P	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	76	Q	R	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	139	H	Y	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	107	I	S	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	204	R	C	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	155	A	V	Polymorphism	-
Q9UBY8	CLN8_HUMAN	204	R	L	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	24	R	G	Disease	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE) [MIM:610003]
Q9UBY8	CLN8_HUMAN	237	G	R	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	221	G	S	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	194	Q	R	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	92	H	Y	Polymorphism	-
Q9UBY8	CLN8_HUMAN	269	E	V	Disease	Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]
Q9UBY8	CLN8_HUMAN	125	N	S	Polymorphism	-
Q9UBZ4	APEX2_HUMAN	141	R	C	Polymorphism	-
Q9UBZ4	APEX2_HUMAN	269	H	Y	Polymorphism	-
Q9UBZ4	APEX2_HUMAN	392	N	H	Polymorphism	-
Q9UBZ4	APEX2_HUMAN	141	R	W	Polymorphism	-
Q9UBZ9	REV1_HUMAN	921	S	I	Polymorphism	-
Q9UBZ9	REV1_HUMAN	1060	P	T	Polymorphism	-
Q9UBZ9	REV1_HUMAN	373	N	S	Polymorphism	-
Q9UBZ9	REV1_HUMAN	138	V	M	Polymorphism	-
Q9UBZ9	REV1_HUMAN	704	R	Q	Polymorphism	-
Q9UBZ9	REV1_HUMAN	656	M	V	Polymorphism	-
Q9UBZ9	REV1_HUMAN	257	F	S	Polymorphism	-
Q9UBZ9	REV1_HUMAN	1003	A	T	Polymorphism	-
Q9UBZ9	REV1_HUMAN	660	L	W	Polymorphism	-
Q9UBZ9	REV1_HUMAN	902	P	H	Polymorphism	-
Q9UBZ9	REV1_HUMAN	1074	N	K	Polymorphism	-
Q9UBZ9	REV1_HUMAN	700	D	N	Polymorphism	-
Q9UBZ9	REV1_HUMAN	1091	N	T	Polymorphism	-
Q9UBZ9	REV1_HUMAN	306	N	D	Polymorphism	-
Q9UBZ9	REV1_HUMAN	1102	L	P	Polymorphism	-
Q9UBZ9	REV1_HUMAN	902	P	S	Polymorphism	-
Q9UDT6	CLIP2_HUMAN	961	D	E	Polymorphism	-
Q9UDT6	CLIP2_HUMAN	977	R	P	Polymorphism	-
Q9UDV6	ZN212_HUMAN	293	H	Y	Polymorphism	-
Q9UDV7	ZN282_HUMAN	273	M	V	Polymorphism	-
Q9UDW1	QCR9_HUMAN	47	I	V	Polymorphism	-
Q9UDX3	S14L4_HUMAN	211	E	K	Polymorphism	-
Q9UDX3	S14L4_HUMAN	3	S	G	Polymorphism	-
Q9UDX3	S14L4_HUMAN	124	R	G	Polymorphism	-
Q9UDX3	S14L4_HUMAN	200	V	M	Polymorphism	-
Q9UDX4	S14L3_HUMAN	335	D	E	Polymorphism	-
Q9UDX4	S14L3_HUMAN	214	R	H	Polymorphism	-
Q9UDX4	S14L3_HUMAN	364	R	C	Polymorphism	-
Q9UDX4	S14L3_HUMAN	103	I	T	Polymorphism	-
Q9UDY2	ZO2_HUMAN	482	D	E	Polymorphism	-
Q9UDY2	ZO2_HUMAN	829	N	D	Polymorphism	-
Q9UDY2	ZO2_HUMAN	668	M	I	Polymorphism	-
Q9UDY2	ZO2_HUMAN	822	K	N	Polymorphism	-
Q9UDY2	ZO2_HUMAN	48	V	A	Disease	Familial hypercholanemia (FHCA) [MIM:607748]
Q9UDY2	ZO2_HUMAN	711	S	P	Polymorphism	-
Q9UDY6	TRI10_HUMAN	65	R	H	Polymorphism	-
Q9UDY6	TRI10_HUMAN	119	V	M	Polymorphism	-
Q9UDY8	MALT1_HUMAN	89	S	I	Disease	Immunodeficiency 12 (IMD12) [MIM:615468]
Q9UDY8	MALT1_HUMAN	641	I	V	Polymorphism	-
Q9UEE5	ST17A_HUMAN	167	M	T	Polymorphism	-
Q9UEE5	ST17A_HUMAN	286	E	Q	Polymorphism	-
Q9UEE5	ST17A_HUMAN	126	E	D	Polymorphism	-
Q9UEE5	ST17A_HUMAN	362	K	E	Polymorphism	-
Q9UEE9	CFDP1_HUMAN	60	A	T	Polymorphism	-
Q9UEF7	KLOT_HUMAN	45	F	V	Polymorphism	-
Q9UEF7	KLOT_HUMAN	352	F	V	Polymorphism	-
Q9UEF7	KLOT_HUMAN	514	P	S	Polymorphism	-
Q9UEF7	KLOT_HUMAN	954	P	L	Unclassified	A colorectal cancer sample
Q9UEF7	KLOT_HUMAN	15	P	Q	Polymorphism	-
Q9UEF7	KLOT_HUMAN	193	H	R	Disease	Tumoral calcinosis, hyperphosphatemic, familial, 3 (HFTC3) [MIM:617994]
Q9UEF7	KLOT_HUMAN	370	C	S	Polymorphism	-
Q9UEG4	ZN629_HUMAN	707	P	A	Polymorphism	-
Q9UEW3	MARCO_HUMAN	282	F	S	Polymorphism	-
Q9UEY8	ADDG_HUMAN	367	G	D	Disease	Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:617008]
Q9UF12	HYPDH_HUMAN	91	P	R	Polymorphism	-
Q9UF12	HYPDH_HUMAN	525	R	Q	Polymorphism	-
Q9UF33	EPHA6_HUMAN	711	A	V	Polymorphism	-
Q9UF33	EPHA6_HUMAN	704	F	S	Polymorphism	-
Q9UF56	FXL17_HUMAN	627	C	R	Unclassified	-
Q9UFB7	ZBT47_HUMAN	385	A	T	Polymorphism	-
Q9UFD9	RIM3A_HUMAN	1513	R	C	Polymorphism	-
Q9UFE4	CCD39_HUMAN	594	T	I	Unclassified	Ciliary dyskinesia, primary, 14 (CILD14) [MIM:613807]
Q9UFF9	CNOT8_HUMAN	32	L	P	Polymorphism	-
Q9UFH2	DYH17_HUMAN	792	I	V	Polymorphism	-
Q9UFH2	DYH17_HUMAN	492	D	N	Polymorphism	-
Q9UFH2	DYH17_HUMAN	963	I	T	Polymorphism	-
Q9UFH2	DYH17_HUMAN	1972	M	V	Polymorphism	-
Q9UFN0	NPS3A_HUMAN	100	R	Q	Polymorphism	-
Q9UFP1	GAK1A_HUMAN	227	H	Y	Polymorphism	-
Q9UFP1	GAK1A_HUMAN	460	Q	R	Polymorphism	-
Q9UG01	IF172_HUMAN	296	R	W	Disease	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
Q9UG01	IF172_HUMAN	953	R	H	Polymorphism	-
Q9UG01	IF172_HUMAN	1727	C	R	Disease	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
Q9UG01	IF172_HUMAN	1544	R	C	Disease	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
Q9UG01	IF172_HUMAN	1567	H	Q	Disease	Retinitis pigmentosa 71 (RP71) [MIM:616394]
Q9UG01	IF172_HUMAN	257	L	P	Disease	Retinitis pigmentosa 71 (RP71) [MIM:616394]
Q9UG01	IF172_HUMAN	1536	L	P	Disease	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
Q9UG01	IF172_HUMAN	411	I	N	Disease	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
Q9UG01	IF172_HUMAN	1605	D	E	Disease	Retinitis pigmentosa 71 (RP71) [MIM:616394]
Q9UG22	GIMA2_HUMAN	74	V	F	Polymorphism	-
Q9UG22	GIMA2_HUMAN	152	N	S	Polymorphism	-
Q9UG22	GIMA2_HUMAN	161	H	R	Polymorphism	-
Q9UGC7	RF1ML_HUMAN	177	L	F	Polymorphism	-
Q9UGC7	RF1ML_HUMAN	38	T	A	Polymorphism	-
Q9UGC7	RF1ML_HUMAN	76	R	Q	Polymorphism	-
Q9UGC7	RF1ML_HUMAN	214	V	I	Polymorphism	-
Q9UGF5	O14J1_HUMAN	278	V	M	Polymorphism	-
Q9UGF5	O14J1_HUMAN	7	M	T	Polymorphism	-
Q9UGF6	OR5V1_HUMAN	23	L	W	Polymorphism	-
Q9UGF6	OR5V1_HUMAN	136	L	P	Unclassified	-
Q9UGF6	OR5V1_HUMAN	45	I	M	Polymorphism	-
Q9UGF7	O12D3_HUMAN	277	Y	H	Polymorphism	-
Q9UGF7	O12D3_HUMAN	97	T	I	Polymorphism	-
Q9UGF7	O12D3_HUMAN	250	F	L	Unclassified	A breast cancer sample
Q9UGI8	TES_HUMAN	221	A	V	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	446	R	M	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	197	M	T	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	340	R	Q	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	171	G	S	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	482	A	V	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	485	D	N	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	103	D	G	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	180	G	S	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	307	R	C	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	225	R	W	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	76	E	Q	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	269	I	T	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	260	Q	R	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	225	R	Q	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	153	L	V	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	71	P	A	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	340	R	W	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	161	L	P	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	113	G	V	Polymorphism	-
Q9UGI9	AAKG3_HUMAN	211	E	Q	Polymorphism	-
Q9UGJ0	AAKG2_HUMAN	400	T	N	Disease	Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858]
Q9UGJ0	AAKG2_HUMAN	302	R	Q	Disease	Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858]
Q9UGJ0	AAKG2_HUMAN	531	R	Q	Disease	Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]
Q9UGJ0	AAKG2_HUMAN	531	R	G	Disease	Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]
Q9UGJ0	AAKG2_HUMAN	383	H	R	Disease	Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858]
Q9UGJ0	AAKG2_HUMAN	488	N	I	Disease	Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858]
Q9UGJ0	AAKG2_HUMAN	302	R	Q	Disease	Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]
Q9UGJ0	AAKG2_HUMAN	6	M	L	Polymorphism	-
Q9UGK3	STAP2_HUMAN	93	D	N	Polymorphism	-
Q9UGK8	SRGEF_HUMAN	457	G	E	Polymorphism	-
Q9UGK8	SRGEF_HUMAN	429	K	E	Polymorphism	-
Q9UGL9	CRCT1_HUMAN	96	C	Y	Polymorphism	-
Q9UGM1	ACHA9_HUMAN	442	N	S	Polymorphism	-
Q9UGM1	ACHA9_HUMAN	96	R	Q	Polymorphism	-
Q9UGM1	ACHA9_HUMAN	315	A	V	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	162	G	E	Unclassified	A glioma cell line
Q9UGM3	DMBT1_HUMAN	649	T	M	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	1169	M	T	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	1860	R	L	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	1084	H	Y	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	420	Q	H	Unclassified	A glioma sample
Q9UGM3	DMBT1_HUMAN	607	G	V	Unclassified	A glioma sample
Q9UGM3	DMBT1_HUMAN	65	P	L	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	1732	H	S	Unclassified	-
Q9UGM3	DMBT1_HUMAN	969	T	R	Unclassified	-
Q9UGM3	DMBT1_HUMAN	1545	V	M	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	322	N	D	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	364	R	G	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	719	T	M	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	1961	T	P	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	60	V	A	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	2255	V	M	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	1102	S	T	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	670	R	C	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	656	R	W	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	357	P	S	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	780	T	M	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	54	S	L	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	1095	S	P	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	1176	R	W	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	546	N	S	Unclassified	A glioma cell line
Q9UGM3	DMBT1_HUMAN	52	S	W	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	337	Q	L	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	42	P	T	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	856	P	S	Polymorphism	-
Q9UGM3	DMBT1_HUMAN	1434	R	W	Polymorphism	-
Q9UGM5	FETUB_HUMAN	202	G	S	Polymorphism	-
Q9UGM5	FETUB_HUMAN	33	S	P	Polymorphism	-
Q9UGM5	FETUB_HUMAN	360	K	R	Polymorphism	-
Q9UGM6	SYWM_HUMAN	13	W	G	Disease	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
Q9UGM6	SYWM_HUMAN	45	G	V	Disease	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
Q9UGM6	SYWM_HUMAN	352	E	K	Unclassified	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
Q9UGM6	SYWM_HUMAN	313	K	M	Disease	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
Q9UGM6	SYWM_HUMAN	50	G	S	Polymorphism	-
Q9UGM6	SYWM_HUMAN	178	V	L	Disease	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
Q9UGM6	SYWM_HUMAN	77	H	Q	Unclassified	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
Q9UGM6	SYWM_HUMAN	349	V	L	Disease	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]
Q9UGM6	SYWM_HUMAN	267	A	P	Polymorphism	-
Q9UGM6	SYWM_HUMAN	360	L	P	Polymorphism	-
Q9UGN4	CLM8_HUMAN	111	R	Q	Polymorphism	-
Q9UGN5	PARP2_HUMAN	331	I	T	Polymorphism	-
Q9UGN5	PARP2_HUMAN	296	R	Q	Polymorphism	-
Q9UGN5	PARP2_HUMAN	161	S	N	Polymorphism	-
Q9UGN5	PARP2_HUMAN	285	I	V	Polymorphism	-
Q9UGN5	PARP2_HUMAN	235	D	G	Polymorphism	-
Q9UGN5	PARP2_HUMAN	168	N	S	Polymorphism	-
Q9UGP4	LIMD1_HUMAN	36	G	D	Polymorphism	-
Q9UGP4	LIMD1_HUMAN	415	G	R	Polymorphism	-
Q9UGP5	DPOLL_HUMAN	438	R	W	Polymorphism	-
Q9UGP5	DPOLL_HUMAN	221	T	P	Polymorphism	-
Q9UGP8	SEC63_HUMAN	556	V	I	Polymorphism	-
Q9UGQ2	FLOWR_HUMAN	58	I	M	Polymorphism	-
Q9UGQ3	GTR6_HUMAN	500	T	M	Polymorphism	-
Q9UGR2	Z3H7B_HUMAN	363	D	N	Polymorphism	-
Q9UGT4	SUSD2_HUMAN	59	R	Q	Polymorphism	-
Q9UGT4	SUSD2_HUMAN	110	S	T	Polymorphism	-
Q9UGT4	SUSD2_HUMAN	466	N	S	Polymorphism	-
Q9UGU0	TCF20_HUMAN	485	T	N	Polymorphism	-
Q9UGU0	TCF20_HUMAN	405	M	V	Polymorphism	-
Q9UGU0	TCF20_HUMAN	1910	Y	C	Polymorphism	-
Q9UGU0	TCF20_HUMAN	722	S	G	Polymorphism	-
Q9UGU0	TCF20_HUMAN	1165	M	I	Polymorphism	-
Q9UGU0	TCF20_HUMAN	1325	S	N	Polymorphism	-
Q9UGU5	HMGX4_HUMAN	165	G	V	Polymorphism	-
Q9UH17	ABC3B_HUMAN	62	K	E	Polymorphism	-
Q9UH17	ABC3B_HUMAN	351	R	H	Polymorphism	-
Q9UH17	ABC3B_HUMAN	146	T	K	Polymorphism	-
Q9UH17	ABC3B_HUMAN	109	S	A	Polymorphism	-
Q9UH17	ABC3B_HUMAN	98	P	L	Polymorphism	-
Q9UH36	SRR1L_HUMAN	99	A	T	Polymorphism	-
Q9UH65	SWP70_HUMAN	230	R	G	Polymorphism	-
Q9UH65	SWP70_HUMAN	505	Q	E	Polymorphism	-
Q9UH77	KLHL3_HUMAN	77	A	E	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	433	S	G	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	362	R	W	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	384	R	Q	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	164	C	F	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	438	V	I	Unclassified	-
Q9UH77	KLHL3_HUMAN	387	L	P	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	432	S	N	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	78	M	V	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	557	Y	C	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	498	H	Y	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	384	R	W	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	427	M	T	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	398	A	V	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	575	R	W	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	433	S	N	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	494	A	T	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	501	P	T	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	426	P	L	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	340	A	V	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	528	R	H	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	410	S	L	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	528	R	C	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	431	R	Q	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	553	S	L	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	228	R	G	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	361	V	M	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	309	Q	R	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	336	R	I	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	500	G	V	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	529	N	K	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	322	F	C	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77	KLHL3_HUMAN	85	E	A	Disease	Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH90	FBX40_HUMAN	87	V	A	Polymorphism	-
Q9UH92	MLX_HUMAN	223	Q	R	Polymorphism	-
Q9UH99	SUN2_HUMAN	33	T	A	Polymorphism	-
Q9UH99	SUN2_HUMAN	671	G	S	Polymorphism	-
Q9UH99	SUN2_HUMAN	348	R	C	Polymorphism	-
Q9UH99	SUN2_HUMAN	89	L	R	Polymorphism	-
Q9UHA7	IL36A_HUMAN	63	I	T	Polymorphism	-
Q9UHA7	IL36A_HUMAN	134	G	R	Polymorphism	-
Q9UHA7	IL36A_HUMAN	12	Q	R	Polymorphism	-
Q9UHB4	NDOR1_HUMAN	522	V	I	Polymorphism	-
Q9UHB6	LIMA1_HUMAN	25	L	I	Polymorphism	-
Q9UHB7	AFF4_HUMAN	254	T	S	Disease	CHOPS syndrome (CHOPS) [MIM:616368]
Q9UHB7	AFF4_HUMAN	254	T	A	Disease	CHOPS syndrome (CHOPS) [MIM:616368]
Q9UHB7	AFF4_HUMAN	757	S	T	Unclassified	-
Q9UHB7	AFF4_HUMAN	258	R	W	Disease	CHOPS syndrome (CHOPS) [MIM:616368]
Q9UHB7	AFF4_HUMAN	136	T	P	Polymorphism	-
Q9UHC1	MLH3_HUMAN	981	G	S	Disease	Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
Q9UHC1	MLH3_HUMAN	1007	N	S	Disease	Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
Q9UHC1	MLH3_HUMAN	624	E	Q	Disease	Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
Q9UHC1	MLH3_HUMAN	231	K	Q	Polymorphism	-
Q9UHC1	MLH3_HUMAN	1319	G	R	Polymorphism	-
Q9UHC1	MLH3_HUMAN	93	R	G	Polymorphism	-
Q9UHC1	MLH3_HUMAN	720	Y	C	Polymorphism	-
Q9UHC1	MLH3_HUMAN	844	P	L	Polymorphism	-
Q9UHC1	MLH3_HUMAN	420	V	I	Polymorphism	-
Q9UHC1	MLH3_HUMAN	120	F	S	Polymorphism	-
Q9UHC1	MLH3_HUMAN	647	R	C	Disease	Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
Q9UHC1	MLH3_HUMAN	494	H	R	Polymorphism	-
Q9UHC1	MLH3_HUMAN	723	V	I	Polymorphism	-
Q9UHC1	MLH3_HUMAN	797	R	H	Polymorphism	-
Q9UHC1	MLH3_HUMAN	845	S	G	Polymorphism	-
Q9UHC1	MLH3_HUMAN	499	N	S	Disease	Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
Q9UHC1	MLH3_HUMAN	1451	E	K	Disease	Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
Q9UHC1	MLH3_HUMAN	606	T	P	Polymorphism	-
Q9UHC1	MLH3_HUMAN	1394	A	T	Disease	Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
Q9UHC1	MLH3_HUMAN	817	S	G	Disease	Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
Q9UHC1	MLH3_HUMAN	966	S	P	Polymorphism	-
Q9UHC1	MLH3_HUMAN	492	L	V	Polymorphism	-
Q9UHC1	MLH3_HUMAN	1105	D	E	Polymorphism	-
Q9UHC1	MLH3_HUMAN	1073	D	N	Polymorphism	-
Q9UHC1	MLH3_HUMAN	24	Q	E	Disease	Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]
Q9UHC1	MLH3_HUMAN	826	N	D	Polymorphism	-
Q9UHC1	MLH3_HUMAN	942	T	I	Polymorphism	-
Q9UHC1	MLH3_HUMAN	600	R	Q	Polymorphism	-
Q9UHC1	MLH3_HUMAN	1163	G	D	Polymorphism	-
Q9UHC1	MLH3_HUMAN	741	V	F	Polymorphism	-
Q9UHC3	ASIC3_HUMAN	228	N	S	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	418	N	D	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	1119	R	H	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	1227	A	T	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	1129	D	H	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	1038	D	N	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	1114	S	G	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	731	G	S	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	906	R	H	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	226	L	M	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	869	I	T	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	407	N	S	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	1102	V	A	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	716	Y	C	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	699	P	Q	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	218	T	M	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	1253	I	T	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	114	R	Q	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	680	E	K	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	779	G	D	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	382	S	N	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	1278	T	I	Polymorphism	-
Q9UHC6	CNTP2_HUMAN	283	R	C	Polymorphism	-
Q9UHC7	MKRN1_HUMAN	439	V	A	Polymorphism	-
Q9UHC7	MKRN1_HUMAN	243	V	L	Polymorphism	-
Q9UHC9	NPCL1_HUMAN	1233	I	N	Polymorphism	-
Q9UHC9	NPCL1_HUMAN	55	V	L	Polymorphism	-
Q9UHC9	NPCL1_HUMAN	510	M	I	Polymorphism	-
Q9UHC9	NPCL1_HUMAN	1308	E	K	Polymorphism	-
Q9UHD0	IL19_HUMAN	175	F	S	Polymorphism	-
Q9UHD1	CHRD1_HUMAN	329	A	D	Polymorphism	-
Q9UHD2	TBK1_HUMAN	410	G	R	Unclassified	A colorectal adenocarcinoma sample
Q9UHD2	TBK1_HUMAN	50	D	A	Disease	Encephalopathy, acute, infection-induced, herpes-specific, 8 (IIAE8) [MIM:617900]
Q9UHD2	TBK1_HUMAN	151	S	F	Polymorphism	-
Q9UHD2	TBK1_HUMAN	308	R	Q	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
Q9UHD2	TBK1_HUMAN	305	I	T	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
Q9UHD2	TBK1_HUMAN	105	Y	C	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
Q9UHD2	TBK1_HUMAN	159	G	A	Disease	Encephalopathy, acute, infection-induced, herpes-specific, 8 (IIAE8) [MIM:617900]
Q9UHD2	TBK1_HUMAN	570	K	Q	Polymorphism	-
Q9UHD2	TBK1_HUMAN	47	R	H	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
Q9UHD2	TBK1_HUMAN	464	V	A	Polymorphism	-
Q9UHD2	TBK1_HUMAN	401	K	E	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
Q9UHD2	TBK1_HUMAN	696	E	K	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
Q9UHD2	TBK1_HUMAN	306	L	I	Unclassified	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
Q9UHD2	TBK1_HUMAN	296	D	H	Unclassified	A breast pleomorphic lobular carcinoma sample
Q9UHD2	TBK1_HUMAN	388	N	D	Polymorphism	-
Q9UHD2	TBK1_HUMAN	598	M	V	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
Q9UHD2	TBK1_HUMAN	571	A	V	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
Q9UHD2	TBK1_HUMAN	559	M	R	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
Q9UHD2	TBK1_HUMAN	291	K	E	Polymorphism	-
Q9UHD2	TBK1_HUMAN	271	R	Q	Polymorphism	-
Q9UHD2	TBK1_HUMAN	357	R	Q	Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]
Q9UHD2	TBK1_HUMAN	207	I	V	Unclassified	Encephalopathy, acute, infection-induced, herpes-specific, 8 (IIAE8) [MIM:617900]
Q9UHD8	SEPT9_HUMAN	106	R	W	Disease	Hereditary neuralgic amyotrophy (HNA) [MIM:162100]
Q9UHD8	SEPT9_HUMAN	576	M	V	Polymorphism	-
Q9UHD8	SEPT9_HUMAN	145	P	L	Polymorphism	-
Q9UHD8	SEPT9_HUMAN	76	R	C	Polymorphism	-
Q9UHD8	SEPT9_HUMAN	111	S	F	Disease	Hereditary neuralgic amyotrophy (HNA) [MIM:162100]
Q9UHD9	UBQL2_HUMAN	497	P	S	Disease	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]
Q9UHD9	UBQL2_HUMAN	525	P	S	Disease	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]
Q9UHD9	UBQL2_HUMAN	506	P	T	Disease	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]
Q9UHD9	UBQL2_HUMAN	487	T	I	Disease	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]
Q9UHD9	UBQL2_HUMAN	509	P	S	Disease	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]
Q9UHD9	UBQL2_HUMAN	425	Q	R	Disease	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]
Q9UHD9	UBQL2_HUMAN	189	P	T	Unclassified	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]
Q9UHD9	UBQL2_HUMAN	282	A	V	Disease	-
Q9UHD9	UBQL2_HUMAN	155	S	N	Unclassified	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]
Q9UHD9	UBQL2_HUMAN	497	P	H	Disease	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]
Q9UHD9	UBQL2_HUMAN	283	A	T	Disease	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]
Q9UHD9	UBQL2_HUMAN	235	L	H	Polymorphism	-
Q9UHE5	NAT8_HUMAN	104	E	K	Polymorphism	-
Q9UHE5	NAT8_HUMAN	143	F	S	Polymorphism	-
Q9UHE8	STEA1_HUMAN	169	F	L	Polymorphism	-
Q9UHE8	STEA1_HUMAN	47	H	Q	Polymorphism	-
Q9UHF0	TKNK_HUMAN	80	R	S	Disease	Hypogonadotropic hypogonadism 10 with or without anosmia (HH10) [MIM:614839]
Q9UHF0	TKNK_HUMAN	90	M	T	Disease	Hypogonadotropic hypogonadism 10 with or without anosmia (HH10) [MIM:614839]
Q9UHF1	EGFL7_HUMAN	114	G	R	Polymorphism	-
Q9UHF1	EGFL7_HUMAN	186	A	G	Polymorphism	-
Q9UHF1	EGFL7_HUMAN	183	P	S	Polymorphism	-
Q9UHF1	EGFL7_HUMAN	153	V	I	Polymorphism	-
Q9UHF4	I20RA_HUMAN	259	V	I	Polymorphism	-
Q9UHF4	I20RA_HUMAN	382	L	F	Polymorphism	-
Q9UHF7	TRPS1_HUMAN	894	V	D	Disease	Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351]
Q9UHF7	TRPS1_HUMAN	901	T	P	Disease	Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351]
Q9UHF7	TRPS1_HUMAN	952	R	H	Disease	Tricho-rhino-phalangeal syndrome 1 (TRPS1) [MIM:190350]
Q9UHF7	TRPS1_HUMAN	919	A	T	Disease	Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351]
Q9UHF7	TRPS1_HUMAN	908	R	Q	Disease	Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351]
Q9UHF7	TRPS1_HUMAN	952	R	C	Disease	Tricho-rhino-phalangeal syndrome 1 (TRPS1) [MIM:190350]
Q9UHF7	TRPS1_HUMAN	654	S	L	Polymorphism	-
Q9UHF7	TRPS1_HUMAN	908	R	P	Disease	Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351]
Q9UHG0	DCDC2_HUMAN	152	P	A	Polymorphism	-
Q9UHG0	DCDC2_HUMAN	221	S	G	Polymorphism	-
Q9UHG0	DCDC2_HUMAN	17	K	N	Disease	Sclerosing cholangitis, neonatal (NSC) [MIM:617394]
Q9UHG0	DCDC2_HUMAN	456	K	N	Polymorphism	-
Q9UHG0	DCDC2_HUMAN	424	Q	P	Disease	Deafness, autosomal recessive, 66 (DFNB66) [MIM:610212]
Q9UHG2	PCSK1_HUMAN	31	A	T	Polymorphism	-
Q9UHG3	PCYOX_HUMAN	414	T	S	Polymorphism	-
Q9UHG3	PCYOX_HUMAN	149	S	F	Polymorphism	-
Q9UHG3	PCYOX_HUMAN	465	S	G	Polymorphism	-
Q9UHI6	DDX20_HUMAN	762	I	T	Polymorphism	-
Q9UHI6	DDX20_HUMAN	693	R	S	Polymorphism	-
Q9UHI6	DDX20_HUMAN	636	I	T	Polymorphism	-
Q9UHI7	S23A1_HUMAN	218	I	V	Polymorphism	-
Q9UHI7	S23A1_HUMAN	421	S	A	Polymorphism	-
Q9UHI7	S23A1_HUMAN	264	V	M	Polymorphism	-
Q9UHI7	S23A1_HUMAN	258	M	V	Polymorphism	-
Q9UHI8	ATS1_HUMAN	227	A	P	Polymorphism	-
Q9UHJ6	SHPK_HUMAN	215	E	K	Polymorphism	-
Q9UHJ6	SHPK_HUMAN	421	D	E	Polymorphism	-
Q9UHJ6	SHPK_HUMAN	434	L	M	Polymorphism	-
Q9UHJ9	PGAP2_HUMAN	99	Y	C	Disease	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
Q9UHJ9	PGAP2_HUMAN	160	T	I	Disease	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
Q9UHJ9	PGAP2_HUMAN	177	R	P	Disease	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
Q9UHJ9	PGAP2_HUMAN	127	L	S	Disease	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
Q9UHJ9	PGAP2_HUMAN	16	R	W	Disease	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
Q9UHK0	NUFP1_HUMAN	36	S	R	Polymorphism	-
Q9UHK6	AMACR_HUMAN	9	V	M	Polymorphism	-
Q9UHK6	AMACR_HUMAN	52	S	P	Disease	Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307]
Q9UHK6	AMACR_HUMAN	52	S	P	Disease	Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950]
Q9UHK6	AMACR_HUMAN	175	G	D	Polymorphism	-
Q9UHK6	AMACR_HUMAN	261	M	T	Polymorphism	-
Q9UHK6	AMACR_HUMAN	238	P	S	Polymorphism	-
Q9UHK6	AMACR_HUMAN	239	Q	H	Polymorphism	-
Q9UHK6	AMACR_HUMAN	107	L	P	Disease	Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950]
Q9UHK6	AMACR_HUMAN	277	E	K	Polymorphism	-
Q9UHK6	AMACR_HUMAN	118	R	Q	Polymorphism	-
Q9UHK6	AMACR_HUMAN	261	M	I	Polymorphism	-
Q9UHK6	AMACR_HUMAN	201	L	S	Polymorphism	-
Q9UHL4	DPP2_HUMAN	89	A	G	Polymorphism	-
Q9UHL9	GT2D1_HUMAN	652	M	V	Polymorphism	-
Q9UHM6	OPN4_HUMAN	10	P	L	Polymorphism	-
Q9UHM6	OPN4_HUMAN	394	T	I	Polymorphism	-
Q9UHM6	OPN4_HUMAN	444	G	D	Polymorphism	-
Q9UHN1	DPOG2_HUMAN	451	G	E	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131]
Q9UHN1	DPOG2_HUMAN	182	R	W	Disease	-
Q9UHN1	DPOG2_HUMAN	169	A	T	Polymorphism	-
Q9UHN1	DPOG2_HUMAN	416	G	A	Polymorphism	-
Q9UHN6	CEIP2_HUMAN	291	R	L	Polymorphism	-
Q9UHN6	CEIP2_HUMAN	245	R	K	Polymorphism	-
Q9UHN6	CEIP2_HUMAN	765	P	S	Polymorphism	-
Q9UHN6	CEIP2_HUMAN	1010	I	V	Polymorphism	-
Q9UHN6	CEIP2_HUMAN	1280	G	D	Polymorphism	-
Q9UHN6	CEIP2_HUMAN	1254	S	N	Polymorphism	-
Q9UHN6	CEIP2_HUMAN	291	R	P	Polymorphism	-
Q9UHN6	CEIP2_HUMAN	423	D	E	Polymorphism	-
Q9UHN6	CEIP2_HUMAN	291	R	H	Polymorphism	-
Q9UHP6	RSP14_HUMAN	42	T	M	Polymorphism	-
Q9UHP7	CLC2D_HUMAN	19	N	K	Polymorphism	-
Q9UHP7	CLC2D_HUMAN	23	L	V	Polymorphism	-
Q9UHQ9	NB5R1_HUMAN	44	N	S	Polymorphism	-
Q9UHR4	BI2L1_HUMAN	460	S	T	Polymorphism	-
Q9UHR6	ZNHI2_HUMAN	59	A	P	Unclassified	A breast cancer sample
Q9UHR6	ZNHI2_HUMAN	155	E	K	Polymorphism	-
Q9UHR6	ZNHI2_HUMAN	176	A	V	Polymorphism	-
Q9UHV2	SRTD1_HUMAN	31	T	A	Polymorphism	-
Q9UHV7	MED13_HUMAN	1385	A	P	Polymorphism	-
Q9UHV7	MED13_HUMAN	1370	A	P	Polymorphism	-
Q9UHW5	GPN3_HUMAN	244	V	A	Polymorphism	-
Q9UHW5	GPN3_HUMAN	52	A	V	Polymorphism	-
Q9UHW9	S12A6_HUMAN	415	F	S	Polymorphism	-
Q9UHX1	PUF60_HUMAN	169	H	Y	Disease	Verheij syndrome (VRJS) [MIM:615583]
Q9UHX3	AGRE2_HUMAN	720	E	D	Polymorphism	-
Q9UHX3	AGRE2_HUMAN	314	A	V	Polymorphism	-
Q9UHX3	AGRE2_HUMAN	665	S	F	Polymorphism	-
Q9UHX3	AGRE2_HUMAN	614	L	F	Polymorphism	-
Q9UHX3	AGRE2_HUMAN	492	C	Y	Disease	Vibratory urticaria (VBU) [MIM:125630]
Q9UHX3	AGRE2_HUMAN	605	T	I	Polymorphism	-
Q9UHY1	NRBP_HUMAN	432	P	L	Unclassified	An ovarian mucinous carcinoma sample
Q9UHY1	NRBP_HUMAN	365	V	I	Polymorphism	-
Q9UHY1	NRBP_HUMAN	460	H	R	Polymorphism	-
Q9UHY8	FEZ2_HUMAN	329	R	C	Polymorphism	-
Q9UHY8	FEZ2_HUMAN	50	P	L	Polymorphism	-
Q9UI08	EVL_HUMAN	188	P	L	Unclassified	A colorectal cancer sample
Q9UI08	EVL_HUMAN	247	P	L	Unclassified	A colorectal cancer sample
Q9UI09	NDUAC_HUMAN	104	T	A	Polymorphism	-
Q9UI10	EI2BD_HUMAN	374	R	C	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9UI10	EI2BD_HUMAN	228	A	V	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9UI10	EI2BD_HUMAN	93	A	V	Polymorphism	-
Q9UI10	EI2BD_HUMAN	465	C	R	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9UI10	EI2BD_HUMAN	357	R	Q	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9UI10	EI2BD_HUMAN	306	R	G	Polymorphism	-
Q9UI10	EI2BD_HUMAN	269	L	R	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9UI10	EI2BD_HUMAN	209	R	Q	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9UI10	EI2BD_HUMAN	489	Y	H	Disease	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9UI17	M2GD_HUMAN	530	A	G	Polymorphism	-
Q9UI17	M2GD_HUMAN	279	S	P	Polymorphism	-
Q9UI17	M2GD_HUMAN	109	H	R	Disease	DMGDH deficiency (DMGDHD) [MIM:605850]
Q9UI17	M2GD_HUMAN	646	S	P	Polymorphism	-
Q9UI26	IPO11_HUMAN	937	I	V	Polymorphism	-
Q9UI26	IPO11_HUMAN	260	N	D	Polymorphism	-
Q9UI32	GLSL_HUMAN	581	L	P	Polymorphism	-
Q9UI33	SCNBA_HUMAN	1158	L	P	Disease	Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
Q9UI33	SCNBA_HUMAN	225	R	C	Disease	Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
Q9UI33	SCNBA_HUMAN	481	G	E	Polymorphism	-
Q9UI33	SCNBA_HUMAN	1609	T	I	Polymorphism	-
Q9UI33	SCNBA_HUMAN	699	G	R	Disease	Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
Q9UI33	SCNBA_HUMAN	222	R	H	Disease	Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
Q9UI33	SCNBA_HUMAN	842	A	P	Polymorphism	-
Q9UI33	SCNBA_HUMAN	777	M	R	Polymorphism	-
Q9UI33	SCNBA_HUMAN	681	A	D	Polymorphism	-
Q9UI33	SCNBA_HUMAN	808	A	G	Disease	Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
Q9UI33	SCNBA_HUMAN	909	V	I	Polymorphism	-
Q9UI33	SCNBA_HUMAN	1689	F	L	Polymorphism	-
Q9UI33	SCNBA_HUMAN	1198	Y	H	Polymorphism	-
Q9UI33	SCNBA_HUMAN	811	L	P	Disease	Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM:615548]
Q9UI33	SCNBA_HUMAN	222	R	S	Disease	Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
Q9UI33	SCNBA_HUMAN	308	P	L	Polymorphism	-
Q9UI33	SCNBA_HUMAN	582	A	T	Polymorphism	-
Q9UI33	SCNBA_HUMAN	1184	V	A	Disease	Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM:615548]
Q9UI33	SCNBA_HUMAN	381	I	T	Disease	Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]
Q9UI33	SCNBA_HUMAN	419	K	N	Polymorphism	-
Q9UI38	TSP50_HUMAN	75	Q	P	Polymorphism	-
Q9UI38	TSP50_HUMAN	98	V	I	Polymorphism	-
Q9UI42	CBPA4_HUMAN	157	P	T	Polymorphism	-
Q9UI42	CBPA4_HUMAN	303	G	C	Polymorphism	-
Q9UI42	CBPA4_HUMAN	183	R	L	Polymorphism	-
Q9UI42	CBPA4_HUMAN	27	L	F	Polymorphism	-
Q9UI46	DNAI1_HUMAN	515	G	S	Disease	Kartagener syndrome (KTGS) [MIM:244400]
Q9UI46	DNAI1_HUMAN	487	V	G	Polymorphism	-
Q9UI46	DNAI1_HUMAN	335	V	I	Polymorphism	-
Q9UI46	DNAI1_HUMAN	60	A	V	Polymorphism	-
Q9UI46	DNAI1_HUMAN	326	Q	H	Polymorphism	-
Q9UI46	DNAI1_HUMAN	8	A	S	Polymorphism	-
Q9UI47	CTNA3_HUMAN	596	S	N	Polymorphism	-
Q9UI47	CTNA3_HUMAN	94	V	D	Disease	Arrhythmogenic right ventricular dysplasia, familial, 13 (ARVD13) [MIM:615616]
Q9UI47	CTNA3_HUMAN	535	R	C	Polymorphism	-
Q9UI95	MD2L2_HUMAN	85	V	E	Disease	Fanconi anemia, complementation group V (FANCV) [MIM:617243]
Q9UIA0	CYH4_HUMAN	74	M	V	Polymorphism	-
Q9UIA9	XPO7_HUMAN	398	E	D	Polymorphism	-
Q9UIA9	XPO7_HUMAN	835	C	Y	Polymorphism	-
Q9UIE0	ZN230_HUMAN	434	F	Y	Polymorphism	-
Q9UIE0	ZN230_HUMAN	441	D	E	Polymorphism	-
Q9UIE0	ZN230_HUMAN	310	S	C	Polymorphism	-
Q9UIF3	TEKT2_HUMAN	114	I	T	Polymorphism	-
Q9UIF3	TEKT2_HUMAN	46	R	C	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	393	G	D	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	319	S	N	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	512	S	F	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	176	Y	C	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	490	V	F	Unclassified	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	335	Q	R	Unclassified	-
Q9UIF7	MUTYH_HUMAN	526	L	M	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	411	Q	R	Unclassified	Gastric cancer (GASC) [MIM:613659]
Q9UIF7	MUTYH_HUMAN	125	Y	H	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	231	V	M	Disease	-
Q9UIF7	MUTYH_HUMAN	179	R	H	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	402	P	L	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	128	W	R	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	22	V	M	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	121	D	G	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	154	P	L	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	72	V	E	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	179	R	C	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	474	T	M	Unclassified	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	417	L	M	Unclassified	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	102	D	N	Unclassified	-
Q9UIF7	MUTYH_HUMAN	182	R	W	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	531	R	Q	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	271	R	W	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	500	G	E	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	434	R	Q	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	486	A	T	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	177	Y	S	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	536	T	A	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	470	A	T	Unclassified	-
Q9UIF7	MUTYH_HUMAN	470	A	D	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	434	R	P	Unclassified	-
Q9UIF7	MUTYH_HUMAN	520	R	H	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	377	P	T	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	370	A	V	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	243	V	F	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	242	R	H	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	244	R	G	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	287	C	W	Unclassified	-
Q9UIF7	MUTYH_HUMAN	402	P	S	Disease	Gastric cancer (GASC) [MIM:613659]
Q9UIF7	MUTYH_HUMAN	100	W	R	Unclassified	-
Q9UIF7	MUTYH_HUMAN	213	G	E	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	25	G	D	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	18	P	L	Unclassified	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	220	I	V	Unclassified	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	423	R	C	Unclassified	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	513	P	L	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	335	Q	H	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	238	R	W	Unclassified	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	182	R	Q	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	224	A	V	Polymorphism	-
Q9UIF7	MUTYH_HUMAN	283	G	E	Unclassified	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	306	R	C	Unclassified	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	280	M	V	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	186	G	E	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	292	P	L	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	242	R	C	Disease	-
Q9UIF7	MUTYH_HUMAN	235	N	S	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF7	MUTYH_HUMAN	385	L	P	Disease	Familial adenomatous polyposis 2 (FAP2) [MIM:608456]
Q9UIF8	BAZ2B_HUMAN	530	P	L	Polymorphism	-
Q9UIF8	BAZ2B_HUMAN	422	L	S	Polymorphism	-
Q9UIF8	BAZ2B_HUMAN	702	G	V	Polymorphism	-
Q9UIF8	BAZ2B_HUMAN	2024	S	N	Polymorphism	-
Q9UIF8	BAZ2B_HUMAN	71	M	T	Polymorphism	-
Q9UIF9	BAZ2A_HUMAN	498	V	E	Polymorphism	-
Q9UIG4	PS1C2_HUMAN	83	L	P	Polymorphism	-
Q9UIG4	PS1C2_HUMAN	84	P	L	Polymorphism	-
Q9UIG4	PS1C2_HUMAN	25	G	D	Polymorphism	-
Q9UIG5	PS1C1_HUMAN	34	E	K	Polymorphism	-
Q9UIG5	PS1C1_HUMAN	34	E	Q	Polymorphism	-
Q9UIG5	PS1C1_HUMAN	24	P	T	Polymorphism	-
Q9UIG5	PS1C1_HUMAN	37	R	H	Polymorphism	-
Q9UIG5	PS1C1_HUMAN	66	S	C	Polymorphism	-
Q9UIG5	PS1C1_HUMAN	133	P	L	Polymorphism	-
Q9UIG5	PS1C1_HUMAN	43	P	S	Polymorphism	-
Q9UIG8	SO3A1_HUMAN	294	E	D	Polymorphism	-
Q9UII4	HERC5_HUMAN	301	A	T	Polymorphism	-
Q9UII6	DS13B_HUMAN	190	R	G	Polymorphism	-
Q9UII6	DS13B_HUMAN	62	R	Q	Polymorphism	-
Q9UII6	DS13B_HUMAN	156	C	Y	Polymorphism	-
Q9UIJ5	ZDHC2_HUMAN	356	M	I	Unclassified	A colorectal cancer sample
Q9UIJ5	ZDHC2_HUMAN	306	S	F	Unclassified	A hepatocellular carcinoma sample
Q9UIK4	DAPK2_HUMAN	271	R	W	Polymorphism	-
Q9UIK4	DAPK2_HUMAN	60	R	W	Polymorphism	-
Q9UIL4	KIF25_HUMAN	28	K	M	Polymorphism	-
Q9UIL4	KIF25_HUMAN	41	A	T	Polymorphism	-
Q9UIL4	KIF25_HUMAN	255	A	T	Polymorphism	-
Q9UIL4	KIF25_HUMAN	229	T	P	Polymorphism	-
Q9UIM3	FKBPL_HUMAN	90	A	T	Polymorphism	-
Q9UIQ6	LCAP_HUMAN	963	I	V	Polymorphism	-
Q9UIQ6	LCAP_HUMAN	913	S	T	Polymorphism	-
Q9UIQ6	LCAP_HUMAN	763	A	T	Polymorphism	-
Q9UIQ6	LCAP_HUMAN	86	S	P	Polymorphism	-
Q9UIQ6	LCAP_HUMAN	594	N	I	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	334	S	L	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	94	W	R	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	202	A	V	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	181	R	Q	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	196	K	E	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	379	P	L	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	352	A	T	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	360	S	G	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	380	M	I	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	188	V	M	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	393	P	Q	Polymorphism	-
Q9UIR0	BTNL2_HUMAN	283	D	V	Polymorphism	-
Q9UIS9	MBD1_HUMAN	401	P	A	Polymorphism	-
Q9UIU6	SIX4_HUMAN	23	E	Q	Unclassified	A breast cancer sample
Q9UIU6	SIX4_HUMAN	446	G	D	Unclassified	A breast cancer sample
Q9UIU6	SIX4_HUMAN	780	D	E	Unclassified	A breast cancer sample
Q9UIU6	SIX4_HUMAN	605	H	P	Polymorphism	-
Q9UIV8	SPB13_HUMAN	293	G	S	Polymorphism	-
Q9UIW0	VAX2_HUMAN	24	R	G	Polymorphism	-
Q9UIW0	VAX2_HUMAN	254	P	R	Polymorphism	-
Q9UIX4	KCNG1_HUMAN	304	I	M	Polymorphism	-
Q9UJ04	TSYL4_HUMAN	30	R	L	Polymorphism	-
Q9UJ70	NAGK_HUMAN	38	W	R	Polymorphism	-
Q9UJ70	NAGK_HUMAN	60	A	V	Polymorphism	-
Q9UJ71	CLC4K_HUMAN	288	N	D	Polymorphism	-
Q9UJ71	CLC4K_HUMAN	213	P	S	Polymorphism	-
Q9UJ71	CLC4K_HUMAN	55	A	V	Polymorphism	-
Q9UJ71	CLC4K_HUMAN	136	Q	E	Polymorphism	-
Q9UJ71	CLC4K_HUMAN	264	W	R	Disease	Birbeck granule deficiency (BIRGD) [MIM:613393]
Q9UJ71	CLC4K_HUMAN	300	A	P	Polymorphism	-
Q9UJ71	CLC4K_HUMAN	278	V	A	Polymorphism	-
Q9UJ72	ANX10_HUMAN	71	M	L	Polymorphism	-
Q9UJ78	ZMYM5_HUMAN	137	C	F	Polymorphism	-
Q9UJ78	ZMYM5_HUMAN	231	T	A	Polymorphism	-
Q9UJ78	ZMYM5_HUMAN	125	I	V	Polymorphism	-
Q9UJ90	KCNE5_HUMAN	65	L	F	Unclassified	-
Q9UJ90	KCNE5_HUMAN	114	E	Q	Polymorphism	-
Q9UJ90	KCNE5_HUMAN	81	Y	H	Unclassified	-
Q9UJ90	KCNE5_HUMAN	33	P	S	Polymorphism	-
Q9UJA3	MCM8_HUMAN	785	N	S	Polymorphism	-
Q9UJA3	MCM8_HUMAN	101	K	N	Polymorphism	-
Q9UJA3	MCM8_HUMAN	365	S	N	Polymorphism	-
Q9UJA3	MCM8_HUMAN	341	E	K	Polymorphism	-
Q9UJA3	MCM8_HUMAN	183	N	S	Polymorphism	-
Q9UJA3	MCM8_HUMAN	149	P	R	Disease	Premature ovarian failure 10 (POF10) [MIM:612885]
Q9UJA3	MCM8_HUMAN	63	Q	K	Polymorphism	-
Q9UJA5	TRM6_HUMAN	333	P	L	Polymorphism	-
Q9UJA5	TRM6_HUMAN	299	E	G	Polymorphism	-
Q9UJA5	TRM6_HUMAN	293	E	K	Polymorphism	-
Q9UJA9	ENPP5_HUMAN	171	I	V	Polymorphism	-
Q9UJA9	ENPP5_HUMAN	6	L	I	Polymorphism	-
Q9UJA9	ENPP5_HUMAN	283	Y	C	Polymorphism	-
Q9UJA9	ENPP5_HUMAN	69	I	V	Polymorphism	-
Q9UJA9	ENPP5_HUMAN	39	R	P	Polymorphism	-
Q9UJC3	HOOK1_HUMAN	433	S	L	Unclassified	A breast cancer sample
Q9UJC3	HOOK1_HUMAN	689	G	S	Polymorphism	-
Q9UJF2	NGAP_HUMAN	379	E	D	Unclassified	A breast cancer sample
Q9UJF2	NGAP_HUMAN	165	R	W	Unclassified	A colorectal cancer sample
Q9UJG1	MSPD1_HUMAN	63	V	I	Unclassified	A breast cancer sample
Q9UJJ7	RUSD1_HUMAN	124	E	Q	Polymorphism	-
Q9UJJ7	RUSD1_HUMAN	247	L	P	Polymorphism	-
Q9UJJ9	GNPTG_HUMAN	25	A	E	Unclassified	-
Q9UJJ9	GNPTG_HUMAN	230	L	V	Unclassified	-
Q9UJJ9	GNPTG_HUMAN	126	G	S	Disease	Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]
Q9UJJ9	GNPTG_HUMAN	286	T	M	Polymorphism	-
Q9UJJ9	GNPTG_HUMAN	142	C	Y	Disease	Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]
Q9UJJ9	GNPTG_HUMAN	106	G	S	Disease	Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]
Q9UJL9	ZF69B_HUMAN	115	C	Y	Polymorphism	-
Q9UJL9	ZF69B_HUMAN	359	G	R	Polymorphism	-
Q9UJM3	ERRFI_HUMAN	109	D	N	Polymorphism	-
Q9UJM3	ERRFI_HUMAN	158	I	L	Polymorphism	-
Q9UJN7	ZN391_HUMAN	59	G	C	Polymorphism	-
Q9UJN7	ZN391_HUMAN	51	K	R	Polymorphism	-
Q9UJQ1	LAMP5_HUMAN	12	D	G	Polymorphism	-
Q9UJQ1	LAMP5_HUMAN	103	Q	E	Polymorphism	-
Q9UJQ1	LAMP5_HUMAN	158	S	G	Polymorphism	-
Q9UJQ1	LAMP5_HUMAN	81	I	V	Polymorphism	-
Q9UJQ4	SALL4_HUMAN	798	I	L	Polymorphism	-
Q9UJQ4	SALL4_HUMAN	888	H	R	Disease	Duane-radial ray syndrome (DRRS) [MIM:607323]
Q9UJQ4	SALL4_HUMAN	507	L	R	Polymorphism	-
Q9UJQ7	SCP2D_HUMAN	99	P	S	Polymorphism	-
Q9UJS0	CMC2_HUMAN	232	L	I	Polymorphism	-
Q9UJS0	CMC2_HUMAN	601	E	K	Disease	Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) [MIM:605814]
Q9UJS0	CMC2_HUMAN	141	E	K	Polymorphism	-
Q9UJT1	TBD_HUMAN	76	M	T	Polymorphism	-
Q9UJT2	TSKS_HUMAN	167	E	K	Polymorphism	-
Q9UJT2	TSKS_HUMAN	382	D	G	Polymorphism	-
Q9UJT2	TSKS_HUMAN	19	G	R	Unclassified	A colorectal cancer sample
Q9UJU2	LEF1_HUMAN	113	G	R	Unclassified	A colorectal cancer sample
Q9UJU3	ZN112_HUMAN	159	F	L	Polymorphism	-
Q9UJU3	ZN112_HUMAN	54	P	S	Polymorphism	-
Q9UJU3	ZN112_HUMAN	780	E	A	Polymorphism	-
Q9UJU3	ZN112_HUMAN	485	Y	H	Polymorphism	-
Q9UJU3	ZN112_HUMAN	446	E	Q	Polymorphism	-
Q9UJU3	ZN112_HUMAN	163	G	E	Polymorphism	-
Q9UJU3	ZN112_HUMAN	287	T	K	Polymorphism	-
Q9UJV3	TRIM1_HUMAN	343	N	S	Polymorphism	-
Q9UJV3	TRIM1_HUMAN	378	A	D	Polymorphism	-
Q9UJV3	TRIM1_HUMAN	347	R	Q	Disease	Mental retardation, X-linked 101 (MRX101) [MIM:300928]
Q9UJV8	PURG_HUMAN	316	K	T	Unclassified	A breast cancer sample
Q9UJV8	PURG_HUMAN	241	E	A	Polymorphism	-
Q9UJV8	PURG_HUMAN	26	S	G	Polymorphism	-
Q9UJV8	PURG_HUMAN	143	E	K	Polymorphism	-
Q9UJV9	DDX41_HUMAN	396	I	T	Unclassified	Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) [MIM:616871]
Q9UJV9	DDX41_HUMAN	525	R	H	Disease	Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) [MIM:616871]
Q9UJV9	DDX41_HUMAN	164	R	W	Unclassified	Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) [MIM:616871]
Q9UJW0	DCTN4_HUMAN	342	F	L	Polymorphism	-
Q9UJW0	DCTN4_HUMAN	95	P	T	Polymorphism	-
Q9UJW0	DCTN4_HUMAN	438	S	N	Polymorphism	-
Q9UJW0	DCTN4_HUMAN	263	Y	C	Polymorphism	-
Q9UJW2	TINAG_HUMAN	413	V	I	Polymorphism	-
Q9UJW2	TINAG_HUMAN	158	S	P	Polymorphism	-
Q9UJW2	TINAG_HUMAN	3	T	A	Polymorphism	-
Q9UJW2	TINAG_HUMAN	433	I	L	Polymorphism	-
Q9UJW2	TINAG_HUMAN	22	Q	R	Polymorphism	-
Q9UJW3	DNM3L_HUMAN	278	R	G	Polymorphism	-
Q9UJW7	ZN229_HUMAN	417	S	N	Polymorphism	-
Q9UJW7	ZN229_HUMAN	662	G	R	Polymorphism	-
Q9UJW7	ZN229_HUMAN	337	R	C	Polymorphism	-
Q9UJW7	ZN229_HUMAN	156	S	F	Polymorphism	-
Q9UJW7	ZN229_HUMAN	804	G	R	Polymorphism	-
Q9UJW8	ZN180_HUMAN	272	C	S	Polymorphism	-
Q9UJW8	ZN180_HUMAN	41	A	V	Polymorphism	-
Q9UJW8	ZN180_HUMAN	89	W	C	Polymorphism	-
Q9UJX0	OSGI1_HUMAN	356	E	D	Polymorphism	-
Q9UJX2	CDC23_HUMAN	78	E	Q	Polymorphism	-
Q9UJX2	CDC23_HUMAN	9	P	L	Polymorphism	-
Q9UJX4	APC5_HUMAN	617	Q	H	Unclassified	A breast cancer sample
Q9UJX5	APC4_HUMAN	465	R	Q	Polymorphism	-
Q9UJX5	APC4_HUMAN	800	E	G	Polymorphism	-
Q9UJX5	APC4_HUMAN	155	I	V	Unclassified	A colorectal cancer sample
Q9UJY1	HSPB8_HUMAN	78	R	M	Polymorphism	-
Q9UJY1	HSPB8_HUMAN	141	K	E	Disease	Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]
Q9UJY1	HSPB8_HUMAN	67	G	S	Unclassified	A glioblastoma multiforme sample
Q9UJY1	HSPB8_HUMAN	90	P	L	Disease	Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]
Q9UJY1	HSPB8_HUMAN	138	N	T	Disease	Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]
Q9UJY1	HSPB8_HUMAN	141	K	M	Disease	Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]
Q9UJY1	HSPB8_HUMAN	141	K	N	Disease	Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]
Q9UJY4	GGA2_HUMAN	424	A	P	Polymorphism	-
Q9UJY5	GGA1_HUMAN	484	P	A	Unclassified	A breast cancer sample
Q9UJY5	GGA1_HUMAN	239	G	S	Unclassified	A breast cancer sample
Q9UJZ1	STML2_HUMAN	129	L	P	Polymorphism	-
Q9UK00	CC018_HUMAN	162	A	V	Polymorphism	-
Q9UK00	CC018_HUMAN	8	A	D	Polymorphism	-
Q9UK05	GDF2_HUMAN	68	R	L	Disease	Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]
Q9UK05	GDF2_HUMAN	85	P	L	Disease	Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]
Q9UK05	GDF2_HUMAN	333	R	W	Disease	Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]
Q9UK10	ZN225_HUMAN	679	T	S	Polymorphism	-
Q9UK10	ZN225_HUMAN	50	Q	R	Polymorphism	-
Q9UK11	ZN223_HUMAN	60	L	I	Polymorphism	-
Q9UK11	ZN223_HUMAN	138	L	I	Polymorphism	-
Q9UK12	ZN222_HUMAN	82	R	G	Polymorphism	-
Q9UK12	ZN222_HUMAN	263	G	D	Polymorphism	-
Q9UK12	ZN222_HUMAN	58	V	F	Polymorphism	-
Q9UK12	ZN222_HUMAN	50	K	E	Polymorphism	-
Q9UK13	ZN221_HUMAN	179	F	I	Polymorphism	-
Q9UK13	ZN221_HUMAN	519	S	T	Polymorphism	-
Q9UK13	ZN221_HUMAN	557	G	R	Polymorphism	-
Q9UK13	ZN221_HUMAN	165	V	M	Polymorphism	-
Q9UK13	ZN221_HUMAN	337	P	A	Polymorphism	-
Q9UK13	ZN221_HUMAN	256	C	R	Polymorphism	-
Q9UK17	KCND3_HUMAN	94	V	M	Unclassified	A colorectal cancer sample
Q9UK17	KCND3_HUMAN	377	T	M	Disease	Spinocerebellar ataxia 19 (SCA19) [MIM:607346]
Q9UK17	KCND3_HUMAN	390	S	N	Unclassified	Spinocerebellar ataxia 19 (SCA19) [MIM:607346]
Q9UK17	KCND3_HUMAN	450	L	F	Unclassified	Brugada syndrome 9 (BRGDA9) [MIM:616399]
Q9UK17	KCND3_HUMAN	530	S	R	Unclassified	Brugada syndrome 9 (BRGDA9) [MIM:616399]
Q9UK17	KCND3_HUMAN	345	G	V	Disease	Spinocerebellar ataxia 19 (SCA19) [MIM:607346]
Q9UK17	KCND3_HUMAN	338	V	E	Disease	Spinocerebellar ataxia 19 (SCA19) [MIM:607346]
Q9UK17	KCND3_HUMAN	384	G	S	Disease	Spinocerebellar ataxia 19 (SCA19) [MIM:607346]
Q9UK17	KCND3_HUMAN	600	G	R	Unclassified	Brugada syndrome 9 (BRGDA9) [MIM:616399]
Q9UK17	KCND3_HUMAN	352	T	P	Disease	Spinocerebellar ataxia 19 (SCA19) [MIM:607346]
Q9UK17	KCND3_HUMAN	392	V	I	Unclassified	Brugada syndrome 9 (BRGDA9) [MIM:616399]
Q9UK17	KCND3_HUMAN	373	M	I	Unclassified	Spinocerebellar ataxia 19 (SCA19) [MIM:607346]
Q9UK22	FBX2_HUMAN	118	K	T	Polymorphism	-
Q9UK23	NAGPA_HUMAN	328	R	C	Unclassified	-
Q9UK23	NAGPA_HUMAN	84	H	Q	Unclassified	-
Q9UK23	NAGPA_HUMAN	465	T	I	Polymorphism	-
Q9UK32	KS6A6_HUMAN	258	S	T	Unclassified	A lung adenocarcinoma sample
Q9UK32	KS6A6_HUMAN	692	D	N	Polymorphism	-
Q9UK32	KS6A6_HUMAN	140	Y	C	Unclassified	A lung large cell carcinoma sample
Q9UK39	NOCT_HUMAN	140	H	Y	Polymorphism	-
Q9UK53	ING1_HUMAN	358	C	S	Disease	Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]
Q9UK53	ING1_HUMAN	125	L	R	Polymorphism	-
Q9UK53	ING1_HUMAN	359	N	S	Disease	Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]
Q9UK53	ING1_HUMAN	335	A	D	Disease	Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]
Q9UK55	ZPI_HUMAN	61	S	G	Polymorphism	-
Q9UK55	ZPI_HUMAN	384	Q	R	Polymorphism	-
Q9UK55	ZPI_HUMAN	158	L	Q	Polymorphism	-
Q9UK55	ZPI_HUMAN	161	T	S	Polymorphism	-
Q9UK55	ZPI_HUMAN	196	R	H	Polymorphism	-
Q9UK55	ZPI_HUMAN	139	G	R	Polymorphism	-
Q9UK55	ZPI_HUMAN	271	G	S	Polymorphism	-
Q9UK55	ZPI_HUMAN	420	F	L	Polymorphism	-
Q9UK55	ZPI_HUMAN	46	K	R	Polymorphism	-
Q9UK55	ZPI_HUMAN	384	Q	P	Polymorphism	-
Q9UK61	TASOR_HUMAN	38	Q	P	Polymorphism	-
Q9UK61	TASOR_HUMAN	1435	I	V	Polymorphism	-
Q9UK61	TASOR_HUMAN	831	A	G	Polymorphism	-
Q9UK61	TASOR_HUMAN	1046	T	R	Polymorphism	-
Q9UK61	TASOR_HUMAN	998	V	I	Polymorphism	-
Q9UK80	UBP21_HUMAN	91	P	S	Polymorphism	-
Q9UK80	UBP21_HUMAN	321	G	D	Polymorphism	-
Q9UK80	UBP21_HUMAN	336	P	T	Polymorphism	-
Q9UK85	DKKL1_HUMAN	214	E	K	Polymorphism	-
Q9UK85	DKKL1_HUMAN	187	G	S	Polymorphism	-
Q9UK85	DKKL1_HUMAN	109	M	R	Polymorphism	-
Q9UK85	DKKL1_HUMAN	24	L	R	Polymorphism	-
Q9UK85	DKKL1_HUMAN	104	L	I	Polymorphism	-
Q9UK85	DKKL1_HUMAN	29	A	T	Polymorphism	-
Q9UK96	FBX10_HUMAN	762	V	C	Unclassified	-
Q9UK96	FBX10_HUMAN	212	H	N	Polymorphism	-
Q9UK96	FBX10_HUMAN	44	R	H	Polymorphism	-
Q9UK96	FBX10_HUMAN	825	R	W	Polymorphism	-
Q9UK99	FBX3_HUMAN	221	V	I	Polymorphism	-
Q9UKA2	FBXL4_HUMAN	565	D	G	Disease	Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
Q9UKA2	FBXL4_HUMAN	481	L	P	Disease	Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
Q9UKA2	FBXL4_HUMAN	205	I	T	Disease	Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
Q9UKA2	FBXL4_HUMAN	551	I	N	Disease	Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
Q9UKA2	FBXL4_HUMAN	482	R	W	Disease	Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
Q9UKA2	FBXL4_HUMAN	568	G	A	Disease	Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
Q9UKA2	FBXL4_HUMAN	597	Q	P	Disease	Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471]
Q9UKA4	AKA11_HUMAN	1410	L	F	Polymorphism	-
Q9UKA4	AKA11_HUMAN	721	S	C	Polymorphism	-
Q9UKA4	AKA11_HUMAN	1070	H	R	Polymorphism	-
Q9UKA8	RCAN3_HUMAN	236	T	N	Polymorphism	-
Q9UKB3	DJC12_HUMAN	129	C	W	Polymorphism	-
Q9UKB3	DJC12_HUMAN	72	R	P	Disease	Hyperphenylalaninemia, mild, non-BH4-deficient (HPANBH4) [MIM:617384]
Q9UKB3	DJC12_HUMAN	124	M	I	Polymorphism	-
Q9UKB5	AJAP1_HUMAN	263	G	R	Polymorphism	-
Q9UKC9	FBXL2_HUMAN	226	V	M	Unclassified	A colorectal cancer sample
Q9UKE5	TNIK_HUMAN	999	A	T	Polymorphism	-
Q9UKE5	TNIK_HUMAN	910	G	E	Polymorphism	-
Q9UKE5	TNIK_HUMAN	778	K	E	Polymorphism	-
Q9UKF2	ADA30_HUMAN	737	T	A	Polymorphism	-
Q9UKF2	ADA30_HUMAN	359	L	P	Polymorphism	-
Q9UKF5	ADA29_HUMAN	115	S	F	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	305	G	E	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	345	D	N	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	112	S	F	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	131	D	N	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	234	S	F	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	205	V	I	Unclassified	A colorectal cancer sample
Q9UKF5	ADA29_HUMAN	176	E	K	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	257	I	F	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	403	G	D	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	111	E	K	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	533	H	Y	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	31	P	L	Unclassified	A colorectal cancer sample
Q9UKF5	ADA29_HUMAN	72	L	F	Unclassified	A melanoma cell line
Q9UKF5	ADA29_HUMAN	503	E	K	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	434	G	D	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF5	ADA29_HUMAN	89	I	M	Unclassified	A cutaneous metastatic melanoma sample
Q9UKF6	CPSF3_HUMAN	578	D	N	Unclassified	A breast cancer sample
Q9UKF6	CPSF3_HUMAN	142	E	G	Polymorphism	-
Q9UKG1	DP13A_HUMAN	94	D	N	Disease	Maturity-onset diabetes of the young 14 (MODY14) [MIM:616511]
Q9UKG1	DP13A_HUMAN	700	E	G	Polymorphism	-
Q9UKG1	DP13A_HUMAN	643	E	Q	Unclassified	A breast cancer sample
Q9UKG1	DP13A_HUMAN	108	A	V	Polymorphism	-
Q9UKG4	S13A4_HUMAN	451	P	S	Polymorphism	-
Q9UKG9	OCTC_HUMAN	474	V	L	Polymorphism	-
Q9UKG9	OCTC_HUMAN	94	R	H	Polymorphism	-
Q9UKI3	VPRE3_HUMAN	4	R	W	Polymorphism	-
Q9UKI8	TLK1_HUMAN	121	R	C	Polymorphism	-
Q9UKI9	PO2F3_HUMAN	390	R	K	Polymorphism	-
Q9UKI9	PO2F3_HUMAN	152	H	R	Polymorphism	-
Q9UKJ0	PILRB_HUMAN	63	I	T	Polymorphism	-
Q9UKJ0	PILRB_HUMAN	66	N	D	Polymorphism	-
Q9UKJ1	PILRA_HUMAN	78	R	G	Polymorphism	-
Q9UKJ1	PILRA_HUMAN	279	S	L	Polymorphism	-
Q9UKJ3	GPTC8_HUMAN	1161	C	W	Polymorphism	-
Q9UKJ3	GPTC8_HUMAN	1012	H	Q	Polymorphism	-
Q9UKJ3	GPTC8_HUMAN	979	A	P	Polymorphism	-
Q9UKJ3	GPTC8_HUMAN	1043	R	Q	Polymorphism	-
Q9UKJ3	GPTC8_HUMAN	1259	S	G	Polymorphism	-
Q9UKK3	PARP4_HUMAN	1253	S	T	Polymorphism	-
Q9UKK3	PARP4_HUMAN	792	P	L	Polymorphism	-
Q9UKK3	PARP4_HUMAN	1280	G	R	Polymorphism	-
Q9UKK3	PARP4_HUMAN	991	K	R	Polymorphism	-
Q9UKK3	PARP4_HUMAN	1012	V	I	Polymorphism	-
Q9UKK3	PARP4_HUMAN	899	A	T	Polymorphism	-
Q9UKK3	PARP4_HUMAN	873	S	N	Polymorphism	-
Q9UKK3	PARP4_HUMAN	1265	G	A	Polymorphism	-
Q9UKK3	PARP4_HUMAN	81	I	V	Polymorphism	-
Q9UKK3	PARP4_HUMAN	122	S	N	Polymorphism	-
Q9UKK3	PARP4_HUMAN	215	F	Y	Polymorphism	-
Q9UKK9	NUDT5_HUMAN	123	I	T	Polymorphism	-
Q9UKL3	C8AP2_HUMAN	1659	P	S	Polymorphism	-
Q9UKL6	PPCT_HUMAN	10	E	A	Polymorphism	-
Q9UKM7	MA1B1_HUMAN	397	E	K	Disease	Mental retardation, autosomal recessive 15 (MRT15) [MIM:614202]
Q9UKM7	MA1B1_HUMAN	334	R	C	Disease	Mental retardation, autosomal recessive 15 (MRT15) [MIM:614202]
Q9UKM7	MA1B1_HUMAN	59	N	S	Polymorphism	-
Q9UKM9	RALY_HUMAN	251	G	S	Polymorphism	-
Q9UKM9	RALY_HUMAN	139	V	M	Polymorphism	-
Q9UKM9	RALY_HUMAN	215	Q	R	Polymorphism	-
Q9UKN1	MUC12_HUMAN	4775	T	R	Polymorphism	-
Q9UKN7	MYO15_HUMAN	2113	I	F	Disease	Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]
Q9UKN7	MYO15_HUMAN	2490	A	T	Polymorphism	-
Q9UKN7	MYO15_HUMAN	2716	Q	H	Disease	Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]
Q9UKN7	MYO15_HUMAN	2682	Y	F	Polymorphism	-
Q9UKN7	MYO15_HUMAN	1806	L	P	Disease	Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]
Q9UKN7	MYO15_HUMAN	2205	T	I	Polymorphism	-
Q9UKN7	MYO15_HUMAN	2111	N	Y	Disease	Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]
Q9UKN7	MYO15_HUMAN	1977	C	R	Polymorphism	-
Q9UKN7	MYO15_HUMAN	2018	G	R	Polymorphism	-
Q9UKP4	ATS7_HUMAN	214	S	P	Polymorphism	-
Q9UKP4	ATS7_HUMAN	1319	T	A	Polymorphism	-
Q9UKP4	ATS7_HUMAN	1414	G	S	Polymorphism	-
Q9UKP4	ATS7_HUMAN	1583	G	A	Polymorphism	-
Q9UKP4	ATS7_HUMAN	307	T	M	Polymorphism	-
Q9UKP6	UR2R_HUMAN	146	S	R	Unclassified	A breast cancer sample
Q9UKP6	UR2R_HUMAN	70	A	P	Polymorphism	-
Q9UKQ2	ADA28_HUMAN	604	T	P	Polymorphism	-
Q9UKQ2	ADA28_HUMAN	219	R	M	Polymorphism	-
Q9UKQ2	ADA28_HUMAN	493	N	S	Polymorphism	-
Q9UKQ2	ADA28_HUMAN	684	M	I	Polymorphism	-
Q9UKQ2	ADA28_HUMAN	765	V	M	Polymorphism	-
Q9UKQ2	ADA28_HUMAN	450	G	E	Unclassified	A cutaneous metastatic melanoma sample
Q9UKQ2	ADA28_HUMAN	134	G	E	Unclassified	A cutaneous metastatic melanoma sample
Q9UKQ2	ADA28_HUMAN	226	E	D	Polymorphism	-
Q9UKQ2	ADA28_HUMAN	65	G	E	Unclassified	A cutaneous metastatic melanoma sample
Q9UKQ2	ADA28_HUMAN	482	S	F	Unclassified	A cutaneous metastatic melanoma sample
Q9UKQ2	ADA28_HUMAN	502	G	D	Unclassified	A cutaneous metastatic melanoma sample
Q9UKQ2	ADA28_HUMAN	593	T	K	Polymorphism	-
Q9UKR3	KLK13_HUMAN	109	H	Y	Polymorphism	-
Q9UKR8	TSN16_HUMAN	55	L	P	Polymorphism	-
Q9UKR8	TSN16_HUMAN	53	Y	D	Polymorphism	-
Q9UKR8	TSN16_HUMAN	233	S	C	Polymorphism	-
Q9UKS6	PACN3_HUMAN	61	A	V	Polymorphism	-
Q9UKS7	IKZF2_HUMAN	93	N	S	Polymorphism	-
Q9UKT4	FBX5_HUMAN	164	L	F	Polymorphism	-
Q9UKT4	FBX5_HUMAN	107	Q	E	Polymorphism	-
Q9UKT5	FBX4_HUMAN	8	S	R	Unclassified	Esophagus cancer samples
Q9UKT5	FBX4_HUMAN	23	L	Q	Unclassified	Esophagus cancer samples
Q9UKT5	FBX4_HUMAN	13	P	S	Unclassified	Esophagus cancer sample
Q9UKT5	FBX4_HUMAN	76	P	T	Unclassified	Esophagus cancer samples
Q9UKT5	FBX4_HUMAN	12	S	L	Unclassified	Esophagus cancer sample
Q9UKT6	FXL21_HUMAN	76	F	L	Polymorphism	-
Q9UKT6	FXL21_HUMAN	209	P	L	Polymorphism	-
Q9UKT9	IKZF3_HUMAN	277	E	Q	Unclassified	-
Q9UKU7	ACAD8_HUMAN	152	M	T	Disease	Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
Q9UKU7	ACAD8_HUMAN	385	Q	R	Disease	Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
Q9UKU7	ACAD8_HUMAN	334	R	C	Disease	Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
Q9UKU7	ACAD8_HUMAN	320	A	T	Disease	Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
Q9UKU7	ACAD8_HUMAN	203	V	I	Disease	Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
Q9UKU7	ACAD8_HUMAN	302	R	Q	Disease	Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
Q9UKU7	ACAD8_HUMAN	137	G	R	Disease	Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
Q9UKU7	ACAD8_HUMAN	128	M	I	Disease	Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
Q9UKU7	ACAD8_HUMAN	134	D	Y	Disease	Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
Q9UKV0	HDAC9_HUMAN	921	P	T	Polymorphism	-
Q9UKV3	ACINU_HUMAN	467	S	P	Polymorphism	-
Q9UKV3	ACINU_HUMAN	478	S	F	Polymorphism	-
Q9UKV3	ACINU_HUMAN	311	I	M	Polymorphism	-
Q9UKV3	ACINU_HUMAN	447	A	P	Polymorphism	-
Q9UKV3	ACINU_HUMAN	257	R	K	Polymorphism	-
Q9UKV3	ACINU_HUMAN	1160	R	Q	Unclassified	A colorectal cancer sample
Q9UKV5	AMFR_HUMAN	605	D	V	Unclassified	A breast cancer sample
Q9UKW4	VAV3_HUMAN	139	D	N	Polymorphism	-
Q9UKW4	VAV3_HUMAN	298	T	S	Polymorphism	-
Q9UKW4	VAV3_HUMAN	618	Q	H	Polymorphism	-
Q9UKW4	VAV3_HUMAN	616	P	S	Polymorphism	-
Q9UKX2	MYH2_HUMAN	970	V	I	Unclassified	-
Q9UKX2	MYH2_HUMAN	706	E	K	Disease	Myopathy, proximal, and ophthalmoplegia (MYPOP) [MIM:605637]
Q9UKX2	MYH2_HUMAN	1927	R	Q	Polymorphism	-
Q9UKX2	MYH2_HUMAN	1061	L	V	Polymorphism	-
Q9UKX3	MYH13_HUMAN	1076	D	E	Polymorphism	-
Q9UKX3	MYH13_HUMAN	1862	H	R	Polymorphism	-
Q9UKX3	MYH13_HUMAN	701	G	R	Polymorphism	-
Q9UKX3	MYH13_HUMAN	1294	R	Q	Polymorphism	-
Q9UKX3	MYH13_HUMAN	1071	M	V	Polymorphism	-
Q9UKX5	ITA11_HUMAN	972	P	L	Polymorphism	-
Q9UKX5	ITA11_HUMAN	433	V	M	Polymorphism	-
Q9UKX5	ITA11_HUMAN	891	Q	K	Polymorphism	-
Q9UKX5	ITA11_HUMAN	524	L	R	Polymorphism	-
Q9UKX5	ITA11_HUMAN	471	M	L	Polymorphism	-
Q9UKX5	ITA11_HUMAN	1093	L	V	Polymorphism	-
Q9UKX5	ITA11_HUMAN	1003	M	I	Polymorphism	-
Q9UKY0	PRND_HUMAN	26	T	P	Polymorphism	-
Q9UKY0	PRND_HUMAN	174	T	M	Polymorphism	-
Q9UKY0	PRND_HUMAN	149	L	S	Polymorphism	-
Q9UKY0	PRND_HUMAN	6	S	I	Polymorphism	-
Q9UKY0	PRND_HUMAN	22	S	P	Polymorphism	-
Q9UKY0	PRND_HUMAN	31	H	R	Polymorphism	-
Q9UKY0	PRND_HUMAN	56	P	L	Polymorphism	-
Q9UKY0	PRND_HUMAN	70	F	L	Polymorphism	-
Q9UKY4	POMT2_HUMAN	726	G	E	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156]
Q9UKY4	POMT2_HUMAN	184	T	M	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) [MIM:613158]
Q9UKY4	POMT2_HUMAN	666	Y	C	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156]
Q9UKY4	POMT2_HUMAN	717	F	S	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156]
Q9UKY4	POMT2_HUMAN	748	W	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156]
Q9UKY4	POMT2_HUMAN	373	V	F	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
Q9UKY4	POMT2_HUMAN	353	G	S	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
Q9UKY4	POMT2_HUMAN	482	G	V	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
Q9UKY4	POMT2_HUMAN	246	G	D	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156]
Q9UKY4	POMT2_HUMAN	54	A	E	Polymorphism	-
Q9UKY4	POMT2_HUMAN	413	R	P	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
Q9UKY4	POMT2_HUMAN	726	G	E	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
Q9UKY4	POMT2_HUMAN	666	Y	C	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
Q9UKY4	POMT2_HUMAN	748	W	S	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) [MIM:613158]
Q9UKY4	POMT2_HUMAN	198	I	N	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
Q9UKY4	POMT2_HUMAN	478	H	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]
Q9UKZ4	TEN1_HUMAN	1482	F	V	Unclassified	A colorectal cancer sample
Q9UKZ4	TEN1_HUMAN	2235	Q	H	Unclassified	A breast cancer sample
Q9UKZ4	TEN1_HUMAN	174	A	D	Polymorphism	-
Q9UKZ4	TEN1_HUMAN	1216	V	I	Unclassified	A breast cancer sample
Q9UKZ4	TEN1_HUMAN	632	M	V	Polymorphism	-
Q9UKZ4	TEN1_HUMAN	40	Y	H	Polymorphism	-
Q9UKZ4	TEN1_HUMAN	371	M	T	Polymorphism	-
Q9UKZ4	TEN1_HUMAN	342	L	F	Unclassified	A breast cancer sample
Q9UKZ4	TEN1_HUMAN	641	K	E	Polymorphism	-
Q9UKZ4	TEN1_HUMAN	2396	L	F	Unclassified	A colorectal cancer sample
Q9UKZ9	PCOC2_HUMAN	292	P	T	Polymorphism	-
Q9UKZ9	PCOC2_HUMAN	280	V	A	Polymorphism	-
Q9UL01	DSE_HUMAN	268	S	L	Disease	Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) [MIM:615539]
Q9UL01	DSE_HUMAN	282	I	V	Polymorphism	-
Q9UL01	DSE_HUMAN	25	T	I	Polymorphism	-
Q9UL01	DSE_HUMAN	34	P	L	Polymorphism	-
Q9UL12	SARDH_HUMAN	614	R	H	Polymorphism	-
Q9UL12	SARDH_HUMAN	648	M	V	Polymorphism	-
Q9UL12	SARDH_HUMAN	71	V	F	Disease	Sarcosinemia (SARCOS) [MIM:268900]
Q9UL12	SARDH_HUMAN	287	P	L	Disease	Sarcosinemia (SARCOS) [MIM:268900]
Q9UL12	SARDH_HUMAN	22	G	C	Polymorphism	-
Q9UL12	SARDH_HUMAN	372	E	D	Polymorphism	-
Q9UL15	BAG5_HUMAN	157	C	W	Polymorphism	-
Q9UL16	CFA45_HUMAN	291	E	G	Polymorphism	-
Q9UL17	TBX21_HUMAN	339	I	V	Polymorphism	-
Q9UL17	TBX21_HUMAN	33	H	Q	Polymorphism	-
Q9UL18	AGO1_HUMAN	199	G	S	Disease	-
Q9UL19	PLAT4_HUMAN	69	V	L	Polymorphism	-
Q9UL19	PLAT4_HUMAN	162	A	V	Polymorphism	-
Q9UL33	TPC2L_HUMAN	37	D	Y	Disease	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis (PEERB) [MIM:618331]
Q9UL36	ZN236_HUMAN	166	S	L	Polymorphism	-
Q9UL36	ZN236_HUMAN	613	I	V	Polymorphism	-
Q9UL36	ZN236_HUMAN	643	S	G	Polymorphism	-
Q9UL36	ZN236_HUMAN	818	A	T	Polymorphism	-
Q9UL36	ZN236_HUMAN	614	P	S	Polymorphism	-
Q9UL41	PNMA3_HUMAN	382	G	S	Polymorphism	-
Q9UL41	PNMA3_HUMAN	386	R	Q	Polymorphism	-
Q9UL42	PNMA2_HUMAN	186	E	K	Polymorphism	-
Q9UL46	PSME2_HUMAN	89	H	P	Polymorphism	-
Q9UL49	TCFL5_HUMAN	380	E	D	Polymorphism	-
Q9UL49	TCFL5_HUMAN	272	N	D	Polymorphism	-
Q9UL51	HCN2_HUMAN	418	L	V	Unclassified	-
Q9UL51	HCN2_HUMAN	527	R	Q	Polymorphism	-
Q9UL52	TM11E_HUMAN	303	Y	C	Polymorphism	-
Q9UL58	ZN215_HUMAN	323	V	L	Polymorphism	-
Q9UL58	ZN215_HUMAN	38	V	I	Polymorphism	-
Q9UL58	ZN215_HUMAN	119	M	V	Polymorphism	-
Q9UL58	ZN215_HUMAN	36	N	S	Polymorphism	-
Q9UL58	ZN215_HUMAN	263	S	F	Polymorphism	-
Q9UL58	ZN215_HUMAN	376	M	V	Polymorphism	-
Q9UL59	ZN214_HUMAN	185	I	R	Polymorphism	-
Q9UL59	ZN214_HUMAN	66	Y	C	Polymorphism	-
Q9UL59	ZN214_HUMAN	128	L	H	Polymorphism	-
Q9UL59	ZN214_HUMAN	160	H	R	Polymorphism	-
Q9UL62	TRPC5_HUMAN	702	R	H	Polymorphism	-
Q9UL62	TRPC5_HUMAN	667	P	T	Unclassified	-
Q9UL63	MKLN1_HUMAN	469	C	G	Polymorphism	-
Q9ULB1	NRX1A_HUMAN	28	G	A	Polymorphism	-
Q9ULB1	NRX1A_HUMAN	400	Y	N	Polymorphism	-
Q9ULB4	CADH9_HUMAN	6	Y	C	Polymorphism	-
Q9ULB4	CADH9_HUMAN	38	A	V	Polymorphism	-
Q9ULB5	CADH7_HUMAN	370	D	E	Polymorphism	-
Q9ULB5	CADH7_HUMAN	576	N	S	Polymorphism	-
Q9ULC3	RAB23_HUMAN	207	G	S	Polymorphism	-
Q9ULC3	RAB23_HUMAN	40	K	R	Polymorphism	-
Q9ULC3	RAB23_HUMAN	12	M	K	Disease	Carpenter syndrome 1 (CRPT1) [MIM:201000]
Q9ULC3	RAB23_HUMAN	85	C	R	Disease	Carpenter syndrome 1 (CRPT1) [MIM:201000]
Q9ULC3	RAB23_HUMAN	101	S	A	Polymorphism	-
Q9ULC4	MCTS1_HUMAN	106	L	H	Polymorphism	-
Q9ULC5	ACSL5_HUMAN	388	K	R	Unclassified	A colorectal cancer sample
Q9ULC5	ACSL5_HUMAN	486	T	A	Polymorphism	-
Q9ULC5	ACSL5_HUMAN	466	G	D	Unclassified	A colorectal cancer sample
Q9ULC5	ACSL5_HUMAN	182	M	V	Polymorphism	-
Q9ULC6	PADI1_HUMAN	649	V	M	Polymorphism	-
Q9ULD0	OGDHL_HUMAN	573	D	N	Polymorphism	-
Q9ULD0	OGDHL_HUMAN	725	N	S	Polymorphism	-
Q9ULD0	OGDHL_HUMAN	511	P	L	Polymorphism	-
Q9ULD0	OGDHL_HUMAN	637	T	M	Polymorphism	-
Q9ULD0	OGDHL_HUMAN	623	S	C	Polymorphism	-
Q9ULD2	MTUS1_HUMAN	1201	Q	R	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q9ULD2	MTUS1_HUMAN	75	Q	K	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q9ULD2	MTUS1_HUMAN	1105	E	Q	Polymorphism	-
Q9ULD2	MTUS1_HUMAN	575	H	R	Polymorphism	-
Q9ULD2	MTUS1_HUMAN	873	N	H	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q9ULD2	MTUS1_HUMAN	563	A	S	Disease	Hepatocellular carcinoma (HCC) [MIM:114550]
Q9ULD2	MTUS1_HUMAN	186	T	S	Polymorphism	-
Q9ULD2	MTUS1_HUMAN	1063	K	T	Polymorphism	-
Q9ULD2	MTUS1_HUMAN	425	T	M	Polymorphism	-
Q9ULD2	MTUS1_HUMAN	453	K	T	Polymorphism	-
Q9ULD2	MTUS1_HUMAN	148	C	R	Polymorphism	-
Q9ULD2	MTUS1_HUMAN	911	K	T	Polymorphism	-
Q9ULD4	BRPF3_HUMAN	278	A	G	Polymorphism	-
Q9ULD4	BRPF3_HUMAN	177	S	G	Polymorphism	-
Q9ULD5	ZN777_HUMAN	512	A	T	Polymorphism	-
Q9ULD5	ZN777_HUMAN	115	V	A	Polymorphism	-
Q9ULD5	ZN777_HUMAN	70	R	W	Polymorphism	-
Q9ULD6	INTU_HUMAN	500	E	A	Unclassified	Short-rib thoracic dysplasia 20 with polydactyly (SRTD20) [MIM:617925]
Q9ULD6	INTU_HUMAN	452	A	T	Polymorphism	-
Q9ULD9	ZN608_HUMAN	721	T	N	Polymorphism	-
Q9ULE0	WWC3_HUMAN	495	A	T	Polymorphism	-
Q9ULE0	WWC3_HUMAN	593	Y	C	Polymorphism	-
Q9ULE0	WWC3_HUMAN	831	P	L	Polymorphism	-
Q9ULE3	DEN2A_HUMAN	729	E	K	Polymorphism	-
Q9ULE3	DEN2A_HUMAN	777	I	T	Polymorphism	-
Q9ULE3	DEN2A_HUMAN	156	P	H	Polymorphism	-
Q9ULE4	F184B_HUMAN	1042	V	A	Polymorphism	-
Q9ULE4	F184B_HUMAN	952	N	S	Polymorphism	-
Q9ULE6	PALD_HUMAN	828	G	R	Polymorphism	-
Q9ULE6	PALD_HUMAN	141	S	L	Polymorphism	-
Q9ULE6	PALD_HUMAN	721	R	C	Polymorphism	-
Q9ULF5	S39AA_HUMAN	87	T	S	Polymorphism	-
Q9ULG1	INO80_HUMAN	882	I	V	Polymorphism	-
Q9ULG1	INO80_HUMAN	1108	V	G	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	553	G	S	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	161	E	V	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	646	T	I	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	590	N	K	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	673	H	R	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	477	A	V	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	418	Y	H	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	553	G	D	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	436	R	L	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	517	A	D	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	627	K	E	Polymorphism	-
Q9ULG6	CCPG1_HUMAN	44	S	P	Polymorphism	-
Q9ULH0	KDIS_HUMAN	1307	R	H	Polymorphism	-
Q9ULH0	KDIS_HUMAN	1608	Q	H	Polymorphism	-
Q9ULH0	KDIS_HUMAN	538	I	T	Polymorphism	-
Q9ULH1	ASAP1_HUMAN	728	I	V	Polymorphism	-
Q9ULH4	LRFN2_HUMAN	770	D	N	Polymorphism	-
Q9ULH7	MRTFB_HUMAN	390	D	G	Unclassified	-
Q9ULI0	ATD2B_HUMAN	118	S	P	Polymorphism	-
Q9ULI1	NWD2_HUMAN	569	L	M	Polymorphism	-
Q9ULI3	HEG1_HUMAN	305	S	P	Polymorphism	-
Q9ULI3	HEG1_HUMAN	980	V	L	Polymorphism	-
Q9ULI3	HEG1_HUMAN	602	F	S	Polymorphism	-
Q9ULI3	HEG1_HUMAN	145	Q	R	Polymorphism	-
Q9ULI3	HEG1_HUMAN	1039	M	T	Polymorphism	-
Q9ULJ1	ODF2L_HUMAN	350	K	R	Polymorphism	-
Q9ULJ1	ODF2L_HUMAN	177	R	H	Polymorphism	-
Q9ULJ3	ZBT21_HUMAN	218	K	Q	Polymorphism	-
Q9ULJ3	ZBT21_HUMAN	185	N	S	Polymorphism	-
Q9ULJ6	ZMIZ1_HUMAN	551	L	V	Unclassified	A breast cancer sample
Q9ULJ8	NEB1_HUMAN	331	M	V	Polymorphism	-
Q9ULK0	GRID1_HUMAN	529	V	I	Polymorphism	-
Q9ULK4	MED23_HUMAN	617	P	Q	Disease	Mental retardation, autosomal recessive 18 (MRT18) [MIM:614249]
Q9ULK5	VANG2_HUMAN	437	F	S	Disease	Neural tube defects (NTD) [MIM:182940]
Q9ULK5	VANG2_HUMAN	84	S	F	Disease	Neural tube defects (NTD) [MIM:182940]
Q9ULK5	VANG2_HUMAN	353	R	C	Disease	Neural tube defects (NTD) [MIM:182940]
Q9ULL0	K1210_HUMAN	945	I	F	Polymorphism	-
Q9ULL0	K1210_HUMAN	103	G	V	Polymorphism	-
Q9ULL0	K1210_HUMAN	1568	Q	E	Polymorphism	-
Q9ULL0	K1210_HUMAN	208	V	F	Polymorphism	-
Q9ULL0	K1210_HUMAN	1032	R	W	Polymorphism	-
Q9ULL0	K1210_HUMAN	419	L	F	Polymorphism	-
Q9ULL0	K1210_HUMAN	844	P	A	Polymorphism	-
Q9ULL0	K1210_HUMAN	852	E	A	Polymorphism	-
Q9ULL0	K1210_HUMAN	1616	E	G	Polymorphism	-
Q9ULL1	PKHG1_HUMAN	1071	V	A	Polymorphism	-
Q9ULL1	PKHG1_HUMAN	1377	Q	P	Polymorphism	-
Q9ULL1	PKHG1_HUMAN	787	Q	R	Polymorphism	-
Q9ULL1	PKHG1_HUMAN	1321	L	S	Polymorphism	-
Q9ULL4	PLXB3_HUMAN	550	R	Q	Polymorphism	-
Q9ULL4	PLXB3_HUMAN	1535	M	T	Polymorphism	-
Q9ULL4	PLXB3_HUMAN	598	V	I	Polymorphism	-
Q9ULL4	PLXB3_HUMAN	1651	E	A	Polymorphism	-
Q9ULL4	PLXB3_HUMAN	126	A	T	Polymorphism	-
Q9ULL4	PLXB3_HUMAN	1156	E	D	Polymorphism	-
Q9ULL8	SHRM4_HUMAN	1089	S	L	Disease	Mental retardation, X-linked, syndromic, Stocco dos Santos type (SDSX) [MIM:300434]
Q9ULL8	SHRM4_HUMAN	970	D	G	Polymorphism	-
Q9ULL8	SHRM4_HUMAN	627	P	S	Polymorphism	-
Q9ULL8	SHRM4_HUMAN	807	I	T	Polymorphism	-
Q9ULL8	SHRM4_HUMAN	1367	L	F	Polymorphism	-
Q9ULL8	SHRM4_HUMAN	146	R	W	Unclassified	-
Q9ULL8	SHRM4_HUMAN	722	R	H	Polymorphism	-
Q9ULM0	PKHH1_HUMAN	438	M	V	Polymorphism	-
Q9ULM0	PKHH1_HUMAN	113	Q	L	Polymorphism	-
Q9ULM0	PKHH1_HUMAN	430	T	A	Polymorphism	-
Q9ULM0	PKHH1_HUMAN	735	H	R	Polymorphism	-
Q9ULM0	PKHH1_HUMAN	75	N	S	Polymorphism	-
Q9ULM0	PKHH1_HUMAN	322	R	Q	Polymorphism	-
Q9ULM3	YETS2_HUMAN	993	Q	H	Polymorphism	-
Q9ULM3	YETS2_HUMAN	530	V	I	Polymorphism	-
Q9ULM3	YETS2_HUMAN	184	I	V	Polymorphism	-
Q9ULP9	TBC24_HUMAN	333	L	F	Disease	Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]
Q9ULP9	TBC24_HUMAN	295	F	L	Polymorphism	-
Q9ULP9	TBC24_HUMAN	515	A	V	Disease	Familial infantile myoclonic epilepsy (FIME) [MIM:605021]
Q9ULP9	TBC24_HUMAN	178	S	L	Disease	Deafness, autosomal dominant, 65 (DFNA65) [MIM:616044]
Q9ULP9	TBC24_HUMAN	70	D	Y	Disease	Deafness, autosomal recessive, 86 (DFNB86) [MIM:614617]
Q9ULP9	TBC24_HUMAN	20	Q	E	Disease	Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]
Q9ULP9	TBC24_HUMAN	40	R	C	Disease	Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]
Q9ULP9	TBC24_HUMAN	251	F	L	Disease	Familial infantile myoclonic epilepsy (FIME) [MIM:605021]
Q9ULP9	TBC24_HUMAN	293	R	P	Disease	Deafness, autosomal recessive, 86 (DFNB86) [MIM:614617]
Q9ULP9	TBC24_HUMAN	113	A	D	Disease	Epileptic encephalopathy, early infantile, 16 (EIEE16) [MIM:615338]
Q9ULP9	TBC24_HUMAN	147	D	H	Disease	Familial infantile myoclonic epilepsy (FIME) [MIM:605021]
Q9ULP9	TBC24_HUMAN	229	F	S	Disease	Epileptic encephalopathy, early infantile, 16 (EIEE16) [MIM:615338]
Q9ULP9	TBC24_HUMAN	159	L	P	Disease	Epileptic encephalopathy, early infantile, 16 (EIEE16) [MIM:615338]
Q9ULP9	TBC24_HUMAN	242	R	C	Disease	Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]
Q9ULP9	TBC24_HUMAN	110	G	S	Unclassified	Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]
Q9ULQ0	STRP2_HUMAN	383	R	Q	Polymorphism	-
Q9ULS5	TMCC3_HUMAN	232	P	Q	Polymorphism	-
Q9ULS5	TMCC3_HUMAN	16	Y	D	Polymorphism	-
Q9ULT0	TTC7A_HUMAN	545	V	I	Polymorphism	-
Q9ULT0	TTC7A_HUMAN	672	S	P	Disease	Gastrointestinal defects and immunodeficiency syndrome (GIDID) [MIM:243150]
Q9ULT0	TTC7A_HUMAN	538	V	L	Polymorphism	-
Q9ULT0	TTC7A_HUMAN	539	S	L	Disease	Gastrointestinal defects and immunodeficiency syndrome (GIDID) [MIM:243150]
Q9ULT0	TTC7A_HUMAN	551	A	D	Disease	Gastrointestinal defects and immunodeficiency syndrome (GIDID) [MIM:243150]
Q9ULT0	TTC7A_HUMAN	71	E	K	Disease	Gastrointestinal defects and immunodeficiency syndrome (GIDID) [MIM:243150]
Q9ULT0	TTC7A_HUMAN	346	L	P	Disease	Gastrointestinal defects and immunodeficiency syndrome (GIDID) [MIM:243150]
Q9ULT0	TTC7A_HUMAN	606	K	R	Disease	Gastrointestinal defects and immunodeficiency syndrome (GIDID) [MIM:243150]
Q9ULT0	TTC7A_HUMAN	832	A	T	Disease	Gastrointestinal defects and immunodeficiency syndrome (GIDID) [MIM:243150]
Q9ULT0	TTC7A_HUMAN	823	L	P	Disease	Gastrointestinal defects and immunodeficiency syndrome (GIDID) [MIM:243150]
Q9ULT0	TTC7A_HUMAN	399	L	P	Disease	Gastrointestinal defects and immunodeficiency syndrome (GIDID) [MIM:243150]
Q9ULT8	HECD1_HUMAN	2027	L	P	Polymorphism	-
Q9ULT8	HECD1_HUMAN	656	Q	H	Polymorphism	-
Q9ULU4	PKCB1_HUMAN	752	V	A	Polymorphism	-
Q9ULV0	MYO5B_HUMAN	538	F	S	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	1556	L	R	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	514	C	R	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	435	G	R	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	126	T	A	Polymorphism	-
Q9ULV0	MYO5B_HUMAN	918	R	H	Polymorphism	-
Q9ULV0	MYO5B_HUMAN	143	A	E	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	1688	M	V	Polymorphism	-
Q9ULV0	MYO5B_HUMAN	660	P	L	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	307	K	N	Polymorphism	-
Q9ULV0	MYO5B_HUMAN	456	N	S	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	316	G	R	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	10	C	G	Polymorphism	-
Q9ULV0	MYO5B_HUMAN	401	R	H	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	108	V	G	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	219	R	H	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	550	I	F	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	942	K	R	Polymorphism	-
Q9ULV0	MYO5B_HUMAN	656	R	C	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV0	MYO5B_HUMAN	168	G	R	Disease	Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]
Q9ULV1	FZD4_HUMAN	223	M	K	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	417	R	Q	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	204	C	Y	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	342	M	V	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	436	K	T	Unclassified	A colorectal cancer sample
Q9ULV1	FZD4_HUMAN	445	T	P	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	181	C	R	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	335	W	C	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	370	A	G	Unclassified	-
Q9ULV1	FZD4_HUMAN	497	S	F	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	256	I	V	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	105	M	T	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	69	H	Y	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	114	I	T	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	525	G	R	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	157	M	V	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	203	K	N	Polymorphism	-
Q9ULV1	FZD4_HUMAN	168	P	S	Polymorphism	-
Q9ULV1	FZD4_HUMAN	40	E	Q	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	488	G	D	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	36	G	D	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	105	M	V	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	33	P	S	Unclassified	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV1	FZD4_HUMAN	204	C	R	Disease	Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]
Q9ULV3	CIZ1_HUMAN	47	P	S	Disease	-
Q9ULV3	CIZ1_HUMAN	394	Q	E	Polymorphism	-
Q9ULV3	CIZ1_HUMAN	672	R	M	Disease	-
Q9ULV3	CIZ1_HUMAN	50	P	L	Polymorphism	-
Q9ULV3	CIZ1_HUMAN	577	S	F	Polymorphism	-
Q9ULV3	CIZ1_HUMAN	219	A	T	Polymorphism	-
Q9ULV3	CIZ1_HUMAN	578	S	F	Polymorphism	-
Q9ULV3	CIZ1_HUMAN	638	V	M	Polymorphism	-
Q9ULV3	CIZ1_HUMAN	264	S	G	Disease	-
Q9ULV3	CIZ1_HUMAN	370	E	G	Polymorphism	-
Q9ULV3	CIZ1_HUMAN	847	R	Q	Polymorphism	-
Q9ULV5	HSF4_HUMAN	114	L	P	Disease	Cataract 5, multiple types (CTRCT5) [MIM:116800]
Q9ULV5	HSF4_HUMAN	19	A	D	Disease	Cataract 5, multiple types (CTRCT5) [MIM:116800]
Q9ULV5	HSF4_HUMAN	73	R	H	Disease	Cataract 5, multiple types (CTRCT5) [MIM:116800]
Q9ULV5	HSF4_HUMAN	86	I	V	Disease	Cataract 5, multiple types (CTRCT5) [MIM:116800]
Q9ULV5	HSF4_HUMAN	119	R	C	Disease	Cataract 5, multiple types (CTRCT5) [MIM:116800]
Q9ULV8	CBLC_HUMAN	405	H	Y	Polymorphism	-
Q9ULW0	TPX2_HUMAN	464	T	N	Unclassified	A colorectal cancer sample
Q9ULW8	PADI3_HUMAN	582	A	T	Polymorphism	-
Q9ULW8	PADI3_HUMAN	171	V	M	Polymorphism	-
Q9ULW8	PADI3_HUMAN	294	A	V	Disease	Uncombable hair syndrome 1 (UHS1) [MIM:191480]
Q9ULW8	PADI3_HUMAN	509	G	R	Unclassified	A breast cancer sample
Q9ULW8	PADI3_HUMAN	112	L	H	Disease	Uncombable hair syndrome 1 (UHS1) [MIM:191480]
Q9ULW8	PADI3_HUMAN	618	R	Q	Polymorphism	-
Q9ULW8	PADI3_HUMAN	605	P	T	Disease	Uncombable hair syndrome 1 (UHS1) [MIM:191480]
Q9ULW8	PADI3_HUMAN	52	I	V	Polymorphism	-
Q9ULX3	NOB1_HUMAN	231	R	Q	Polymorphism	-
Q9ULX3	NOB1_HUMAN	366	Y	F	Polymorphism	-
Q9ULX6	AKP8L_HUMAN	458	Q	H	Polymorphism	-
Q9UM01	YLAT1_HUMAN	365	N	Y	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	251	E	D	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	91	A	V	Polymorphism	-
Q9UM01	YLAT1_HUMAN	5	T	I	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	152	F	L	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	54	G	V	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	238	S	F	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	334	L	R	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	338	G	D	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	333	R	M	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	50	M	K	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	124	L	P	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	140	A	P	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	489	S	P	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	53	S	L	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	386	S	R	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	188	T	I	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	191	K	E	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	159	R	C	Polymorphism	-
Q9UM01	YLAT1_HUMAN	261	L	P	Disease	Lysinuric protein intolerance (LPI) [MIM:222700]
Q9UM01	YLAT1_HUMAN	413	P	S	Unclassified	A breast cancer sample
Q9UM07	PADI4_HUMAN	102	P	T	Polymorphism	-
Q9UM07	PADI4_HUMAN	8	R	H	Polymorphism	-
Q9UM07	PADI4_HUMAN	275	S	F	Polymorphism	-
Q9UM07	PADI4_HUMAN	260	D	N	Polymorphism	-
Q9UM07	PADI4_HUMAN	82	V	A	Polymorphism	-
Q9UM07	PADI4_HUMAN	55	G	S	Polymorphism	-
Q9UM07	PADI4_HUMAN	131	R	T	Polymorphism	-
Q9UM07	PADI4_HUMAN	164	M	T	Polymorphism	-
Q9UM07	PADI4_HUMAN	112	G	A	Polymorphism	-
Q9UM07	PADI4_HUMAN	89	D	N	Polymorphism	-
Q9UM07	PADI4_HUMAN	79	T	M	Polymorphism	-
Q9UM13	APC10_HUMAN	46	R	Q	Polymorphism	-
Q9UM44	HHLA2_HUMAN	344	N	K	Polymorphism	-
Q9UM44	HHLA2_HUMAN	30	I	T	Polymorphism	-
Q9UM44	HHLA2_HUMAN	364	S	R	Polymorphism	-
Q9UM47	NOTC3_HUMAN	495	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	251	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	544	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	145	S	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	149	G	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	201	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	194	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	607	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	182	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	245	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	985	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	953	G	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	206	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	484	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	549	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	222	C	G	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	1261	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	144	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	335	S	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	224	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	144	C	F	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	93	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	185	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	155	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	162	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	144	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	185	C	G	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	1183	V	M	Polymorphism	-
Q9UM47	NOTC3_HUMAN	484	C	F	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	123	C	F	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	194	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	189	Y	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	2223	A	V	Polymorphism	-
Q9UM47	NOTC3_HUMAN	212	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	775	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	128	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	558	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	511	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	240	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	183	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	180	S	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	194	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	174	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	194	C	F	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	207	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	142	F	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	123	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	49	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	169	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	319	A	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	174	C	F	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	183	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	222	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	174	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	213	R	K	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	260	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	395	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	421	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	449	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	76	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	496	P	L	Polymorphism	-
Q9UM47	NOTC3_HUMAN	1231	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	233	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	233	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	150	Y	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	171	G	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	440	C	G	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	183	C	F	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	106	C	W	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	67	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	65	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	379	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	43	C	G	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	134	C	W	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	146	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	76	C	W	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	1063	D	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	108	C	W	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	1261	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	728	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	332	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	87	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	1519	L	P	Disease	Myofibromatosis, infantile 2 (IMF2) [MIM:615293]
Q9UM47	NOTC3_HUMAN	258	Y	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	49	C	F	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	54	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	455	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	1133	H	Q	Polymorphism	-
Q9UM47	NOTC3_HUMAN	984	F	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	578	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	428	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	1021	Y	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	710	Y	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	93	C	F	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	118	S	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	446	C	S	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	1020	A	P	Polymorphism	-
Q9UM47	NOTC3_HUMAN	87	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	117	C	F	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	110	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	542	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	170	H	R	Polymorphism	-
Q9UM47	NOTC3_HUMAN	1031	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	337	Y	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	1006	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	141	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	153	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	420	G	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	60	S	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	1015	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	440	C	R	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	133	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	90	R	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	108	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	71	W	C	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	428	C	Y	Disease	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]
Q9UM47	NOTC3_HUMAN	1515	L	P	Unclassified	-
Q9UM54	MYO6_HUMAN	216	E	V	Disease	Deafness, autosomal recessive, 37 (DFNB37) [MIM:607821]
Q9UM54	MYO6_HUMAN	442	C	Y	Disease	Deafness, autosomal dominant, 22 (DFNA22) [MIM:606346]
Q9UM54	MYO6_HUMAN	246	H	R	Disease	Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]
Q9UM63	PLAL1_HUMAN	272	A	V	Polymorphism	-
Q9UM73	ALK_HUMAN	1174	F	V	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1245	F	V	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1091	D	N	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1171	I	N	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1599	P	H	Polymorphism	-
Q9UM73	ALK_HUMAN	1328	M	L	Polymorphism	-
Q9UM73	ALK_HUMAN	680	T	I	Polymorphism	-
Q9UM73	ALK_HUMAN	1278	Y	S	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1461	I	V	Polymorphism	-
Q9UM73	ALK_HUMAN	1419	E	K	Polymorphism	-
Q9UM73	ALK_HUMAN	296	E	Q	Polymorphism	-
Q9UM73	ALK_HUMAN	1174	F	L	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1275	R	Q	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1275	R	L	Polymorphism	-
Q9UM73	ALK_HUMAN	1416	K	N	Polymorphism	-
Q9UM73	ALK_HUMAN	704	A	T	Polymorphism	-
Q9UM73	ALK_HUMAN	1250	I	T	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1245	F	C	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	877	A	S	Unclassified	An ovarian serous carcinoma sample
Q9UM73	ALK_HUMAN	1429	Q	R	Polymorphism	-
Q9UM73	ALK_HUMAN	1121	G	D	Polymorphism	-
Q9UM73	ALK_HUMAN	1274	A	T	Polymorphism	-
Q9UM73	ALK_HUMAN	560	L	F	Unclassified	A breast pleomorphic lobular carcinoma sample
Q9UM73	ALK_HUMAN	1491	K	R	Polymorphism	-
Q9UM73	ALK_HUMAN	1128	G	A	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1012	T	M	Polymorphism	-
Q9UM73	ALK_HUMAN	1529	D	E	Polymorphism	-
Q9UM73	ALK_HUMAN	868	L	Q	Polymorphism	-
Q9UM73	ALK_HUMAN	1174	F	I	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1151	T	M	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	163	V	L	Polymorphism	-
Q9UM73	ALK_HUMAN	90	S	L	Polymorphism	-
Q9UM73	ALK_HUMAN	476	V	A	Polymorphism	-
Q9UM73	ALK_HUMAN	1192	R	P	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1174	F	C	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1234	A	T	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73	ALK_HUMAN	1376	F	S	Polymorphism	-
Q9UM73	ALK_HUMAN	1166	M	R	Disease	Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM82	SPAT2_HUMAN	443	L	F	Polymorphism	-
Q9UMD9	COHA1_HUMAN	1370	D	G	Polymorphism	-
Q9UMD9	COHA1_HUMAN	265	S	C	Disease	Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q9UMD9	COHA1_HUMAN	939	T	I	Disease	Epithelial recurrent erosion dystrophy (ERED) [MIM:122400]
Q9UMD9	COHA1_HUMAN	633	G	D	Disease	Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q9UMD9	COHA1_HUMAN	627	G	V	Disease	Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q9UMD9	COHA1_HUMAN	231	M	I	Polymorphism	-
Q9UMD9	COHA1_HUMAN	238	M	T	Polymorphism	-
Q9UMD9	COHA1_HUMAN	1303	R	Q	Disease	Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q9UMD9	COHA1_HUMAN	210	T	M	Polymorphism	-
Q9UMD9	COHA1_HUMAN	4	T	A	Polymorphism	-
Q9UMD9	COHA1_HUMAN	428	G	S	Polymorphism	-
Q9UMD9	COHA1_HUMAN	703	M	V	Polymorphism	-
Q9UMF0	ICAM5_HUMAN	188	R	W	Unclassified	A breast cancer sample
Q9UMF0	ICAM5_HUMAN	348	A	T	Polymorphism	-
Q9UMF0	ICAM5_HUMAN	140	L	V	Unclassified	A breast cancer sample
Q9UMF0	ICAM5_HUMAN	301	V	I	Polymorphism	-
Q9UMF0	ICAM5_HUMAN	488	E	Q	Unclassified	A breast cancer sample
Q9UMN6	KMT2B_HUMAN	1762	R	C	Unclassified	Dystonia 28, childhood-onset (DYT28) [MIM:617284]
Q9UMN6	KMT2B_HUMAN	2517	R	W	Unclassified	Dystonia 28, childhood-onset (DYT28) [MIM:617284]
Q9UMN6	KMT2B_HUMAN	2674	I	T	Unclassified	Dystonia 28, childhood-onset (DYT28) [MIM:617284]
Q9UMN6	KMT2B_HUMAN	1829	P	L	Polymorphism	-
Q9UMN6	KMT2B_HUMAN	1652	G	D	Unclassified	Dystonia 28, childhood-onset (DYT28) [MIM:617284]
Q9UMN6	KMT2B_HUMAN	172	T	I	Polymorphism	-
Q9UMN6	KMT2B_HUMAN	1781	L	P	Unclassified	Dystonia 28, childhood-onset (DYT28) [MIM:617284]
Q9UMN6	KMT2B_HUMAN	215	T	N	Polymorphism	-
Q9UMN6	KMT2B_HUMAN	2364	D	G	Polymorphism	-
Q9UMN6	KMT2B_HUMAN	1097	P	L	Polymorphism	-
Q9UMN6	KMT2B_HUMAN	1662	F	L	Unclassified	Dystonia 28, childhood-onset (DYT28) [MIM:617284]
Q9UMN6	KMT2B_HUMAN	587	P	R	Polymorphism	-
Q9UMN6	KMT2B_HUMAN	1705	R	Q	Unclassified	Dystonia 28, childhood-onset (DYT28) [MIM:617284]
Q9UMN6	KMT2B_HUMAN	754	P	L	Polymorphism	-
Q9UMN6	KMT2B_HUMAN	2408	K	N	Polymorphism	-
Q9UMQ6	CAN11_HUMAN	266	V	M	Polymorphism	-
Q9UMQ6	CAN11_HUMAN	441	V	A	Polymorphism	-
Q9UMQ6	CAN11_HUMAN	544	S	R	Polymorphism	-
Q9UMQ6	CAN11_HUMAN	521	I	V	Polymorphism	-
Q9UMQ6	CAN11_HUMAN	728	S	N	Polymorphism	-
Q9UMR2	DD19B_HUMAN	149	V	L	Polymorphism	-
Q9UMR3	TBX20_HUMAN	121	I	M	Disease	Atrial septal defect 4 (ASD4) [MIM:611363]
Q9UMR3	TBX20_HUMAN	152	I	M	Disease	Atrial septal defect 4 (ASD4) [MIM:611363]
Q9UMR5	PPT2_HUMAN	34	A	E	Polymorphism	-
Q9UMR5	PPT2_HUMAN	5	C	W	Polymorphism	-
Q9UMR7	CLC4A_HUMAN	36	H	L	Polymorphism	-
Q9UMS0	NFU1_HUMAN	21	R	P	Disease	Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711]
Q9UMS0	NFU1_HUMAN	190	G	R	Unclassified	Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711]
Q9UMS0	NFU1_HUMAN	182	R	W	Disease	Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711]
Q9UMS0	NFU1_HUMAN	25	M	K	Polymorphism	-
Q9UMS0	NFU1_HUMAN	189	G	R	Disease	Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711]
Q9UMS0	NFU1_HUMAN	208	G	C	Disease	Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711]
Q9UMS6	SYNP2_HUMAN	179	A	T	Polymorphism	-
Q9UMS6	SYNP2_HUMAN	174	Q	H	Polymorphism	-
Q9UMS6	SYNP2_HUMAN	154	G	A	Polymorphism	-
Q9UMS6	SYNP2_HUMAN	573	T	A	Polymorphism	-
Q9UMW8	UBP18_HUMAN	169	T	M	Polymorphism	-
Q9UMX1	SUFU_HUMAN	442	K	R	Polymorphism	-
Q9UMX1	SUFU_HUMAN	176	H	R	Disease	Joubert syndrome 32 (JBTS32) [MIM:617757]
Q9UMX1	SUFU_HUMAN	481	S	N	Polymorphism	-
Q9UMX1	SUFU_HUMAN	19	G	V	Polymorphism	-
Q9UMX1	SUFU_HUMAN	289	R	Q	Polymorphism	-
Q9UMX1	SUFU_HUMAN	382	P	L	Polymorphism	-
Q9UMX1	SUFU_HUMAN	340	A	S	Polymorphism	-
Q9UMX1	SUFU_HUMAN	15	P	L	Polymorphism	-
Q9UMX1	SUFU_HUMAN	293	I	V	Polymorphism	-
Q9UMX1	SUFU_HUMAN	37	I	V	Polymorphism	-
Q9UMX1	SUFU_HUMAN	77	V	M	Polymorphism	-
Q9UMX1	SUFU_HUMAN	406	I	T	Disease	Joubert syndrome 32 (JBTS32) [MIM:617757]
Q9UMX6	GUC1B_HUMAN	155	E	D	Polymorphism	-
Q9UMX6	GUC1B_HUMAN	157	G	R	Disease	Retinitis pigmentosa 48 (RP48) [MIM:613827]
Q9UMX9	S45A2_HUMAN	302	T	S	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	272	E	K	Polymorphism	-
Q9UMX9	S45A2_HUMAN	160	D	H	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	368	E	K	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	507	V	L	Polymorphism	-
Q9UMX9	S45A2_HUMAN	64	G	S	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	42	M	I	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	486	A	V	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	58	P	S	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	151	L	P	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	233	H	Q	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	202	W	C	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	317	Y	C	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	188	G	V	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	58	P	A	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	348	R	C	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	500	T	P	Polymorphism	-
Q9UMX9	S45A2_HUMAN	349	G	R	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	418	F	L	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	374	L	F	Polymorphism	-
Q9UMX9	S45A2_HUMAN	361	L	P	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	477	A	T	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	60	L	R	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	157	D	N	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMX9	S45A2_HUMAN	110	G	R	Disease	Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]
Q9UMZ2	SYNRG_HUMAN	1183	R	H	Unclassified	-
Q9UMZ2	SYNRG_HUMAN	222	T	A	Polymorphism	-
Q9UMZ2	SYNRG_HUMAN	40	A	G	Polymorphism	-
Q9UMZ3	PTPRQ_HUMAN	1120	A	P	Polymorphism	-
Q9UMZ3	PTPRQ_HUMAN	1244	N	D	Polymorphism	-
Q9UMZ3	PTPRQ_HUMAN	281	R	G	Disease	Deafness, autosomal recessive, 84A (DFNB84A) [MIM:613391]
Q9UMZ3	PTPRQ_HUMAN	2121	R	K	Polymorphism	-
Q9UMZ3	PTPRQ_HUMAN	1098	F	L	Polymorphism	-
Q9UMZ3	PTPRQ_HUMAN	1040	T	I	Polymorphism	-
Q9UMZ3	PTPRQ_HUMAN	1734	I	T	Polymorphism	-
Q9UMZ3	PTPRQ_HUMAN	471	Q	E	Polymorphism	-
Q9UN36	NDRG2_HUMAN	48	G	V	Polymorphism	-
Q9UN36	NDRG2_HUMAN	45	T	S	Polymorphism	-
Q9UN42	AT1B4_HUMAN	48	V	A	Polymorphism	-
Q9UN66	PCDB8_HUMAN	745	S	N	Polymorphism	-
Q9UN66	PCDB8_HUMAN	232	E	G	Polymorphism	-
Q9UN66	PCDB8_HUMAN	244	E	Q	Polymorphism	-
Q9UN66	PCDB8_HUMAN	759	G	V	Polymorphism	-
Q9UN66	PCDB8_HUMAN	661	L	V	Polymorphism	-
Q9UN66	PCDB8_HUMAN	305	K	E	Polymorphism	-
Q9UN66	PCDB8_HUMAN	639	Q	H	Polymorphism	-
Q9UN66	PCDB8_HUMAN	199	K	N	Polymorphism	-
Q9UN66	PCDB8_HUMAN	382	I	T	Polymorphism	-
Q9UN66	PCDB8_HUMAN	322	A	V	Polymorphism	-
Q9UN66	PCDB8_HUMAN	767	F	L	Polymorphism	-
Q9UN72	PCDA7_HUMAN	138	R	K	Polymorphism	-
Q9UN72	PCDA7_HUMAN	663	A	G	Polymorphism	-
Q9UN73	PCDA6_HUMAN	585	L	V	Polymorphism	-
Q9UN74	PCDA4_HUMAN	55	E	D	Polymorphism	-
Q9UN74	PCDA4_HUMAN	184	P	S	Polymorphism	-
Q9UN79	SOX13_HUMAN	532	P	S	Polymorphism	-
Q9UN86	G3BP2_HUMAN	434	P	L	Unclassified	A breast cancer sample
Q9UN88	GBRT_HUMAN	478	F	I	Polymorphism	-
Q9UN88	GBRT_HUMAN	15	L	I	Polymorphism	-
Q9UNA0	ATS5_HUMAN	692	L	P	Polymorphism	-
Q9UNA0	ATS5_HUMAN	138	G	A	Polymorphism	-
Q9UNA0	ATS5_HUMAN	614	R	H	Polymorphism	-
Q9UNA1	RHG26_HUMAN	417	N	S	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q9UNA3	A4GCT_HUMAN	218	A	D	Polymorphism	-
Q9UNA4	POLI_HUMAN	474	H	R	Polymorphism	-
Q9UNA4	POLI_HUMAN	96	R	G	Polymorphism	-
Q9UNA4	POLI_HUMAN	731	A	T	Polymorphism	-
Q9UNA4	POLI_HUMAN	276	E	K	Polymorphism	-
Q9UNA4	POLI_HUMAN	532	F	S	Polymorphism	-
Q9UNA4	POLI_HUMAN	261	I	M	Polymorphism	-
Q9UNA4	POLI_HUMAN	560	C	R	Polymorphism	-
Q9UND3	NPIA1_HUMAN	93	R	C	Polymorphism	-
Q9UNE0	EDAR_HUMAN	418	I	T	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	47	C	Y	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	370	V	L	Polymorphism	-
Q9UNE0	EDAR_HUMAN	110	D	A	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	413	T	P	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	370	V	A	Polymorphism	-
Q9UNE0	EDAR_HUMAN	89	R	H	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	358	R	Q	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	434	W	R	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	403	T	M	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	434	W	C	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	420	R	Q	Disease	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A) [MIM:129490]
Q9UNE0	EDAR_HUMAN	377	L	F	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	408	I	F	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	98	R	Q	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	420	R	Q	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	148	C	R	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	382	G	S	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	375	R	H	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE0	EDAR_HUMAN	87	C	R	Disease	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]
Q9UNE7	CHIP_HUMAN	79	A	D	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNE7	CHIP_HUMAN	145	K	Q	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNE7	CHIP_HUMAN	147	W	C	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNE7	CHIP_HUMAN	246	T	M	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNE7	CHIP_HUMAN	240	M	T	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNE7	CHIP_HUMAN	165	L	F	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNE7	CHIP_HUMAN	79	A	T	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNE7	CHIP_HUMAN	28	E	K	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNE7	CHIP_HUMAN	65	N	S	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNE7	CHIP_HUMAN	236	S	T	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNE7	CHIP_HUMAN	130	N	I	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNE7	CHIP_HUMAN	123	L	V	Disease	Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]
Q9UNF0	PACN2_HUMAN	324	V	F	Polymorphism	-
Q9UNF0	PACN2_HUMAN	294	M	I	Polymorphism	-
Q9UNF0	PACN2_HUMAN	175	N	S	Polymorphism	-
Q9UNF1	MAGD2_HUMAN	446	R	C	Disease	Bartter syndrome 5, antenatal, transient (BARTS5) [MIM:300971]
Q9UNF1	MAGD2_HUMAN	187	E	D	Polymorphism	-
Q9UNF1	MAGD2_HUMAN	266	Q	R	Polymorphism	-
Q9UNF1	MAGD2_HUMAN	458	K	Q	Unclassified	A breast cancer sample
Q9UNH5	CC14A_HUMAN	312	R	G	Disease	Deafness, autosomal recessive, 32, with or without immotile sperm (DFNB32) [MIM:608653]
Q9UNH5	CC14A_HUMAN	320	Q	P	Disease	Deafness, autosomal recessive, 32, with or without immotile sperm (DFNB32) [MIM:608653]
Q9UNH5	CC14A_HUMAN	312	R	Q	Disease	Deafness, autosomal recessive, 32, with or without immotile sperm (DFNB32) [MIM:608653]
Q9UNH5	CC14A_HUMAN	589	S	F	Polymorphism	-
Q9UNH5	CC14A_HUMAN	493	D	Y	Unclassified	A colorectal cancer sample
Q9UNH5	CC14A_HUMAN	345	R	Q	Polymorphism	-
Q9UNH6	SNX7_HUMAN	186	F	L	Polymorphism	-
Q9UNH6	SNX7_HUMAN	278	S	N	Polymorphism	-
Q9UNI1	CELA1_HUMAN	44	R	W	Polymorphism	-
Q9UNI1	CELA1_HUMAN	76	G	A	Unclassified	A breast cancer sample
Q9UNI1	CELA1_HUMAN	59	M	V	Polymorphism	-
Q9UNI1	CELA1_HUMAN	10	Q	H	Polymorphism	-
Q9UNI1	CELA1_HUMAN	243	Q	R	Polymorphism	-
Q9UNI6	DUS12_HUMAN	51	A	E	Polymorphism	-
Q9UNK4	PA2GD_HUMAN	121	R	C	Polymorphism	-
Q9UNK4	PA2GD_HUMAN	80	S	G	Polymorphism	-
Q9UNK4	PA2GD_HUMAN	121	R	L	Polymorphism	-
Q9UNK4	PA2GD_HUMAN	96	H	R	Polymorphism	-
Q9UNK4	PA2GD_HUMAN	73	H	R	Polymorphism	-
Q9UNK4	PA2GD_HUMAN	65	Q	H	Polymorphism	-
Q9UNK9	ANGE1_HUMAN	141	G	W	Polymorphism	-
Q9UNK9	ANGE1_HUMAN	383	V	L	Polymorphism	-
Q9UNK9	ANGE1_HUMAN	515	F	C	Polymorphism	-
Q9UNM6	PSD13_HUMAN	204	G	E	Polymorphism	-
Q9UNM6	PSD13_HUMAN	150	S	L	Polymorphism	-
Q9UNM6	PSD13_HUMAN	205	L	F	Polymorphism	-
Q9UNM6	PSD13_HUMAN	13	N	S	Polymorphism	-
Q9UNN8	EPCR_HUMAN	219	S	G	Polymorphism	-
Q9UNP4	SIAT9_HUMAN	104	H	R	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	13	S	L	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	441	S	N	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	141	Q	K	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	620	D	N	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	489	F	L	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	431	F	L	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	316	T	P	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	208	F	S	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	590	N	Y	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	248	S	P	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	296	D	H	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	166	Q	E	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	206	I	L	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	160	R	Q	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	571	F	I	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	528	A	T	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	354	G	R	Polymorphism	-
Q9UNQ0	ABCG2_HUMAN	12	V	M	Polymorphism	-
Q9UNS1	TIM_HUMAN	870	M	V	Polymorphism	-
Q9UNS1	TIM_HUMAN	922	R	H	Polymorphism	-
Q9UNS1	TIM_HUMAN	1017	I	T	Polymorphism	-
Q9UNS1	TIM_HUMAN	429	A	D	Unclassified	A breast cancer sample
Q9UNS1	TIM_HUMAN	924	R	W	Polymorphism	-
Q9UNS1	TIM_HUMAN	471	N	S	Polymorphism	-
Q9UNS1	TIM_HUMAN	455	I	L	Polymorphism	-
Q9UNS1	TIM_HUMAN	1018	P	L	Polymorphism	-
Q9UNS1	TIM_HUMAN	831	R	Q	Polymorphism	-
Q9UNS1	TIM_HUMAN	129	A	S	Polymorphism	-
Q9UNS1	TIM_HUMAN	1008	Q	E	Unclassified	A breast cancer sample
Q9UNU6	CP8B1_HUMAN	88	S	P	Polymorphism	-
Q9UNU6	CP8B1_HUMAN	238	K	R	Polymorphism	-
Q9UNU6	CP8B1_HUMAN	357	L	F	Polymorphism	-
Q9UNU6	CP8B1_HUMAN	234	R	H	Polymorphism	-
Q9UNW1	MINP1_HUMAN	41	S	L	Disease	Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]
Q9UNW1	MINP1_HUMAN	270	Q	R	Disease	Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]
Q9UNX4	WDR3_HUMAN	234	P	A	Polymorphism	-
Q9UNX9	KCJ14_HUMAN	289	R	C	Polymorphism	-
Q9UNY4	TTF2_HUMAN	1134	K	R	Polymorphism	-
Q9UNY4	TTF2_HUMAN	256	E	G	Polymorphism	-
Q9UNY4	TTF2_HUMAN	167	K	E	Polymorphism	-
Q9UNY4	TTF2_HUMAN	213	K	R	Polymorphism	-
Q9UNY4	TTF2_HUMAN	1155	D	H	Polymorphism	-
Q9UNY5	ZN232_HUMAN	123	A	V	Unclassified	A colorectal cancer sample
Q9UNZ2	NSF1C_HUMAN	290	D	N	Polymorphism	-
Q9UNZ5	L10K_HUMAN	39	K	R	Polymorphism	-
Q9UP38	FZD1_HUMAN	343	V	M	Polymorphism	-
Q9UP52	TFR2_HUMAN	690	Q	P	Disease	Hemochromatosis 3 (HFE3) [MIM:604250]
Q9UP52	TFR2_HUMAN	455	R	Q	Polymorphism	-
Q9UP52	TFR2_HUMAN	172	M	K	Disease	Hemochromatosis 3 (HFE3) [MIM:604250]
Q9UP52	TFR2_HUMAN	230	D	E	Polymorphism	-
Q9UP52	TFR2_HUMAN	752	R	H	Polymorphism	-
Q9UP52	TFR2_HUMAN	22	V	I	Disease	Hemochromatosis 3 (HFE3) [MIM:604250]
Q9UP52	TFR2_HUMAN	238	I	M	Polymorphism	-
Q9UP65	PA24C_HUMAN	143	I	V	Polymorphism	-
Q9UP65	PA24C_HUMAN	127	A	V	Polymorphism	-
Q9UP65	PA24C_HUMAN	203	S	P	Polymorphism	-
Q9UP65	PA24C_HUMAN	38	A	P	Polymorphism	-
Q9UP65	PA24C_HUMAN	142	V	F	Polymorphism	-
Q9UP65	PA24C_HUMAN	360	T	P	Polymorphism	-
Q9UP65	PA24C_HUMAN	21	E	K	Polymorphism	-
Q9UP65	PA24C_HUMAN	411	D	N	Polymorphism	-
Q9UP65	PA24C_HUMAN	148	R	G	Polymorphism	-
Q9UP65	PA24C_HUMAN	151	P	L	Polymorphism	-
Q9UP65	PA24C_HUMAN	430	R	C	Polymorphism	-
Q9UP65	PA24C_HUMAN	226	T	S	Polymorphism	-
Q9UP83	COG5_HUMAN	330	F	L	Polymorphism	-
Q9UP83	COG5_HUMAN	365	I	V	Polymorphism	-
Q9UP83	COG5_HUMAN	558	S	P	Polymorphism	-
Q9UP83	COG5_HUMAN	452	H	R	Polymorphism	-
Q9UPA5	BSN_HUMAN	741	A	T	Polymorphism	-
Q9UPA5	BSN_HUMAN	1213	G	D	Polymorphism	-
Q9UPA5	BSN_HUMAN	3863	A	T	Polymorphism	-
Q9UPE1	SRPK3_HUMAN	101	R	C	Polymorphism	-
Q9UPE1	SRPK3_HUMAN	233	E	K	Polymorphism	-
Q9UPE1	SRPK3_HUMAN	114	G	E	Polymorphism	-
Q9UPI3	FLVC2_HUMAN	280	P	R	Disease	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
Q9UPI3	FLVC2_HUMAN	481	A	T	Polymorphism	-
Q9UPI3	FLVC2_HUMAN	16	V	A	Polymorphism	-
Q9UPI3	FLVC2_HUMAN	398	L	V	Disease	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
Q9UPI3	FLVC2_HUMAN	352	T	R	Disease	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
Q9UPI3	FLVC2_HUMAN	430	T	R	Disease	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
Q9UPI3	FLVC2_HUMAN	412	G	R	Disease	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
Q9UPI3	FLVC2_HUMAN	430	T	M	Disease	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
Q9UPI3	FLVC2_HUMAN	326	A	V	Disease	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
Q9UPI3	FLVC2_HUMAN	84	R	H	Disease	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
Q9UPM8	AP4E1_HUMAN	264	N	S	Polymorphism	-
Q9UPM8	AP4E1_HUMAN	326	S	F	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	1105	R	Q	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	719	K	E	Unclassified	-
Q9UPM8	AP4E1_HUMAN	426	I	L	Polymorphism	-
Q9UPM8	AP4E1_HUMAN	1080	I	V	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	978	P	S	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	145	T	S	Polymorphism	-
Q9UPM8	AP4E1_HUMAN	623	S	P	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	211	R	Q	Polymorphism	-
Q9UPM8	AP4E1_HUMAN	85	I	T	Polymorphism	-
Q9UPM8	AP4E1_HUMAN	813	M	V	Polymorphism	-
Q9UPM8	AP4E1_HUMAN	706	I	K	Polymorphism	-
Q9UPM8	AP4E1_HUMAN	311	N	S	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	163	C	R	Polymorphism	-
Q9UPM8	AP4E1_HUMAN	205	H	N	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	801	E	K	Disease	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	517	V	I	Disease	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	384	H	R	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	905	S	P	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	475	A	V	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	96	F	V	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	1089	L	R	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	542	M	V	Unclassified	Stuttering, familial persistent 1 (STUT1) [MIM:184450]
Q9UPM8	AP4E1_HUMAN	618	V	I	Polymorphism	-
Q9UPM9	B9D1_HUMAN	32	Y	C	Disease	Joubert syndrome 27 (JBTS27) [MIM:617120]
Q9UPM9	B9D1_HUMAN	156	R	Q	Disease	Joubert syndrome 27 (JBTS27) [MIM:617120]
Q9UPM9	B9D1_HUMAN	61	R	W	Polymorphism	-
Q9UPM9	B9D1_HUMAN	51	S	P	Polymorphism	-
Q9UPN3	MACF1_HUMAN	302	E	V	Unclassified	A breast cancer sample
Q9UPN3	MACF1_HUMAN	6664	G	R	Unclassified	Lissencephaly 9 with complex brainstem malformation (LIS9) [MIM:618325]
Q9UPN3	MACF1_HUMAN	6201	K	R	Polymorphism	-
Q9UPN3	MACF1_HUMAN	7186	D	Y	Disease	Lissencephaly 9 with complex brainstem malformation (LIS9) [MIM:618325]
Q9UPN3	MACF1_HUMAN	4357	M	V	Polymorphism	-
Q9UPN3	MACF1_HUMAN	6462	E	Q	Unclassified	A breast cancer sample
Q9UPN3	MACF1_HUMAN	6628	S	T	Polymorphism	-
Q9UPN3	MACF1_HUMAN	7188	C	G	Disease	Lissencephaly 9 with complex brainstem malformation (LIS9) [MIM:618325]
Q9UPN3	MACF1_HUMAN	6752	T	I	Polymorphism	-
Q9UPN3	MACF1_HUMAN	6308	A	T	Polymorphism	-
Q9UPN3	MACF1_HUMAN	7188	C	F	Disease	Lissencephaly 9 with complex brainstem malformation (LIS9) [MIM:618325]
Q9UPN3	MACF1_HUMAN	7093	G	E	Unclassified	A breast cancer sample
Q9UPN3	MACF1_HUMAN	7135	C	F	Disease	Lissencephaly 9 with complex brainstem malformation (LIS9) [MIM:618325]
Q9UPN3	MACF1_HUMAN	6855	I	V	Polymorphism	-
Q9UPN4	CP131_HUMAN	43	V	I	Polymorphism	-
Q9UPN4	CP131_HUMAN	473	V	A	Polymorphism	-
Q9UPN4	CP131_HUMAN	70	I	V	Polymorphism	-
Q9UPN4	CP131_HUMAN	397	T	A	Polymorphism	-
Q9UPN4	CP131_HUMAN	272	T	A	Polymorphism	-
Q9UPN6	SCAF8_HUMAN	865	S	N	Polymorphism	-
Q9UPN9	TRI33_HUMAN	67	V	A	Polymorphism	-
Q9UPN9	TRI33_HUMAN	1090	P	T	Polymorphism	-
Q9UPN9	TRI33_HUMAN	961	V	M	Polymorphism	-
Q9UPN9	TRI33_HUMAN	885	P	S	Unclassified	A glioblastoma multiforme sample
Q9UPN9	TRI33_HUMAN	811	E	K	Unclassified	A lung adenocarcinoma sample
Q9UPN9	TRI33_HUMAN	580	M	I	Unclassified	A glioblastoma multiforme sample
Q9UPN9	TRI33_HUMAN	696	L	S	Polymorphism	-
Q9UPN9	TRI33_HUMAN	840	I	T	Polymorphism	-
Q9UPP1	PHF8_HUMAN	315	F	S	Disease	Mental retardation, X-linked, syndromic, Siderius type (MRXSSD) [MIM:300263]
Q9UPP2	IQEC3_HUMAN	558	A	G	Polymorphism	-
Q9UPP5	K1107_HUMAN	815	N	S	Polymorphism	-
Q9UPP5	K1107_HUMAN	953	F	V	Polymorphism	-
Q9UPP5	K1107_HUMAN	1028	V	I	Polymorphism	-
Q9UPP5	K1107_HUMAN	392	V	L	Polymorphism	-
Q9UPP5	K1107_HUMAN	918	T	N	Polymorphism	-
Q9UPP5	K1107_HUMAN	696	K	E	Polymorphism	-
Q9UPP5	K1107_HUMAN	312	S	I	Polymorphism	-
Q9UPP5	K1107_HUMAN	585	N	Y	Polymorphism	-
Q9UPP5	K1107_HUMAN	292	H	R	Polymorphism	-
Q9UPP5	K1107_HUMAN	472	Q	R	Polymorphism	-
Q9UPP5	K1107_HUMAN	551	D	G	Polymorphism	-
Q9UPQ0	LIMC1_HUMAN	759	M	T	Polymorphism	-
Q9UPQ3	AGAP1_HUMAN	798	R	G	Polymorphism	-
Q9UPQ3	AGAP1_HUMAN	148	D	G	Polymorphism	-
Q9UPQ3	AGAP1_HUMAN	854	P	T	Polymorphism	-
Q9UPQ3	AGAP1_HUMAN	829	E	K	Polymorphism	-
Q9UPQ3	AGAP1_HUMAN	671	V	I	Polymorphism	-
Q9UPQ3	AGAP1_HUMAN	82	S	G	Unclassified	-
Q9UPQ7	PZRN3_HUMAN	783	A	V	Polymorphism	-
Q9UPQ8	DOLK_HUMAN	441	Y	S	Disease	Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768]
Q9UPQ8	DOLK_HUMAN	99	C	S	Disease	Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768]
Q9UPQ8	DOLK_HUMAN	224	D	V	Polymorphism	-
Q9UPQ9	TNR6B_HUMAN	517	S	C	Polymorphism	-
Q9UPR0	PLCL2_HUMAN	742	A	V	Polymorphism	-
Q9UPR0	PLCL2_HUMAN	635	V	M	Polymorphism	-
Q9UPR0	PLCL2_HUMAN	890	H	R	Polymorphism	-
Q9UPR0	PLCL2_HUMAN	809	P	H	Polymorphism	-
Q9UPR0	PLCL2_HUMAN	211	Q	R	Polymorphism	-
Q9UPR3	SMG5_HUMAN	1004	N	D	Polymorphism	-
Q9UPR5	NAC2_HUMAN	429	V	L	Polymorphism	-
Q9UPR5	NAC2_HUMAN	29	P	L	Unclassified	-
Q9UPR6	ZFR2_HUMAN	577	A	T	Polymorphism	-
Q9UPR6	ZFR2_HUMAN	210	V	L	Polymorphism	-
Q9UPR6	ZFR2_HUMAN	183	V	M	Polymorphism	-
Q9UPR6	ZFR2_HUMAN	589	D	N	Polymorphism	-
Q9UPR6	ZFR2_HUMAN	235	P	L	Polymorphism	-
Q9UPR6	ZFR2_HUMAN	164	S	L	Polymorphism	-
Q9UPR6	ZFR2_HUMAN	718	I	M	Polymorphism	-
Q9UPS8	ANR26_HUMAN	1514	F	L	Polymorphism	-
Q9UPS8	ANR26_HUMAN	20	Q	R	Polymorphism	-
Q9UPS8	ANR26_HUMAN	1220	V	L	Polymorphism	-
Q9UPS8	ANR26_HUMAN	425	I	V	Polymorphism	-
Q9UPS8	ANR26_HUMAN	1305	V	I	Polymorphism	-
Q9UPT6	JIP3_HUMAN	753	T	A	Polymorphism	-
Q9UPT8	ZC3H4_HUMAN	1228	A	G	Polymorphism	-
Q9UPT8	ZC3H4_HUMAN	287	E	K	Polymorphism	-
Q9UPT8	ZC3H4_HUMAN	464	M	V	Polymorphism	-
Q9UPU5	UBP24_HUMAN	2468	V	A	Polymorphism	-
Q9UPU5	UBP24_HUMAN	1940	G	S	Polymorphism	-
Q9UPU5	UBP24_HUMAN	226	T	I	Polymorphism	-
Q9UPU5	UBP24_HUMAN	2134	Y	S	Polymorphism	-
Q9UPV0	CE164_HUMAN	11	Q	P	Disease	Nephronophthisis 15 (NPHP15) [MIM:614845]
Q9UPV0	CE164_HUMAN	1119	Q	R	Polymorphism	-
Q9UPV0	CE164_HUMAN	988	T	S	Polymorphism	-
Q9UPV0	CE164_HUMAN	94	S	N	Polymorphism	-
Q9UPV0	CE164_HUMAN	93	R	W	Disease	Nephronophthisis 15 (NPHP15) [MIM:614845]
Q9UPV9	TRAK1_HUMAN	329	L	P	Unclassified	Epileptic encephalopathy, early infantile, 68 (EIEE68) [MIM:618201]
Q9UPW0	FOXJ3_HUMAN	162	V	A	Polymorphism	-
Q9UPW0	FOXJ3_HUMAN	377	T	P	Polymorphism	-
Q9UPW5	CBPC1_HUMAN	423	E	K	Unclassified	A colorectal cancer sample
Q9UPW5	CBPC1_HUMAN	799	R	C	Unclassified	Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
Q9UPW5	CBPC1_HUMAN	910	R	C	Unclassified	Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
Q9UPW5	CBPC1_HUMAN	694	Y	D	Disease	Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
Q9UPW5	CBPC1_HUMAN	990	H	L	Disease	Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
Q9UPW5	CBPC1_HUMAN	918	R	W	Disease	Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
Q9UPW5	CBPC1_HUMAN	851	T	M	Disease	Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
Q9UPW6	SATB2_HUMAN	263	S	P	Polymorphism	-
Q9UPW8	UN13A_HUMAN	359	A	T	Polymorphism	-
Q9UPX0	TUTLB_HUMAN	268	E	K	Polymorphism	-
Q9UPX0	TUTLB_HUMAN	178	T	M	Polymorphism	-
Q9UPX6	MNAR1_HUMAN	320	V	F	Polymorphism	-
Q9UPX6	MNAR1_HUMAN	832	I	V	Polymorphism	-
Q9UPY3	DICER_HUMAN	1713	D	V	Disease	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]
Q9UPY3	DICER_HUMAN	1709	D	E	Unclassified	Non-epithelial ovarian tumor
Q9UPY3	DICER_HUMAN	1709	D	Y	Disease	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]
Q9UPY3	DICER_HUMAN	1709	D	N	Unclassified	Non-epithelial ovarian tumor
Q9UPY3	DICER_HUMAN	1810	D	Y	Unclassified	Non-epithelial ovarian tumor
Q9UPY3	DICER_HUMAN	1583	L	R	Disease	Pleuropulmonary blastoma (PPB) [MIM:601200]
Q9UPY3	DICER_HUMAN	1813	E	Q	Unclassified	Non-epithelial ovarian tumor
Q9UPY3	DICER_HUMAN	1898	R	G	Unclassified	-
Q9UPY3	DICER_HUMAN	1813	E	G	Unclassified	Non-epithelial ovarian tumor
Q9UPY3	DICER_HUMAN	1709	D	G	Unclassified	Non-epithelial ovarian tumor
Q9UPY3	DICER_HUMAN	435	P	L	Unclassified	-
Q9UPY3	DICER_HUMAN	1705	E	K	Unclassified	Non-epithelial ovarian tumor
Q9UPY3	DICER_HUMAN	1813	E	K	Unclassified	Non-epithelial ovarian tumor
Q9UPY3	DICER_HUMAN	1810	D	N	Unclassified	Non-epithelial ovarian tumor
Q9UPY3	DICER_HUMAN	839	S	F	Disease	Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1) [MIM:138800]
Q9UPY3	DICER_HUMAN	1810	D	H	Unclassified	Non-epithelial ovarian tumor
Q9UPY6	WASF3_HUMAN	415	S	L	Polymorphism	-
Q9UPZ3	HPS5_HUMAN	417	L	M	Polymorphism	-
Q9UPZ3	HPS5_HUMAN	1098	T	I	Disease	Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074]
Q9UPZ3	HPS5_HUMAN	624	L	R	Disease	Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074]
Q9UPZ6	THS7A_HUMAN	1652	D	E	Polymorphism	-
Q9UPZ6	THS7A_HUMAN	238	F	L	Polymorphism	-
Q9UPZ6	THS7A_HUMAN	771	D	E	Polymorphism	-
Q9UPZ6	THS7A_HUMAN	583	N	H	Polymorphism	-
Q9UPZ6	THS7A_HUMAN	906	D	E	Polymorphism	-
Q9UPZ9	ICK_HUMAN	320	V	I	Polymorphism	-
Q9UPZ9	ICK_HUMAN	476	R	Q	Polymorphism	-
Q9UPZ9	ICK_HUMAN	220	K	E	Disease	Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924]
Q9UPZ9	ICK_HUMAN	615	A	T	Unclassified	Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924]
Q9UPZ9	ICK_HUMAN	98	P	L	Polymorphism	-
Q9UPZ9	ICK_HUMAN	471	T	K	Polymorphism	-
Q9UPZ9	ICK_HUMAN	305	K	T	Disease	Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924]
Q9UPZ9	ICK_HUMAN	115	F	Y	Unclassified	A renal clear cell carcinoma sample
Q9UPZ9	ICK_HUMAN	102	I	L	Unclassified	Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924]
Q9UPZ9	ICK_HUMAN	272	R	Q	Disease	Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]
Q9UQ03	COR2B_HUMAN	238	L	V	Polymorphism	-
Q9UQ03	COR2B_HUMAN	318	P	L	Unclassified	A colorectal cancer sample
Q9UQ05	KCNH4_HUMAN	797	G	R	Unclassified	A colorectal cancer sample
Q9UQ07	MOK_HUMAN	86	D	N	Polymorphism	-
Q9UQ07	MOK_HUMAN	230	K	R	Polymorphism	-
Q9UQ07	MOK_HUMAN	398	Q	R	Polymorphism	-
Q9UQ07	MOK_HUMAN	248	P	S	Polymorphism	-
Q9UQ07	MOK_HUMAN	38	R	H	Polymorphism	-
Q9UQ07	MOK_HUMAN	272	E	D	Unclassified	A breast pleomorphic lobular carcinoma sample
Q9UQ07	MOK_HUMAN	217	V	I	Polymorphism	-
Q9UQ10	DHDH_HUMAN	66	S	N	Polymorphism	-
Q9UQ10	DHDH_HUMAN	2	A	P	Polymorphism	-
Q9UQ10	DHDH_HUMAN	200	V	M	Polymorphism	-
Q9UQ10	DHDH_HUMAN	282	G	R	Polymorphism	-
Q9UQ10	DHDH_HUMAN	247	V	A	Polymorphism	-
Q9UQ13	SHOC2_HUMAN	2	S	G	Disease	Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1) [MIM:607721]
Q9UQ13	SHOC2_HUMAN	173	M	I	Disease	Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1) [MIM:607721]
Q9UQ35	SRRM2_HUMAN	883	S	C	Polymorphism	-
Q9UQ35	SRRM2_HUMAN	804	P	T	Polymorphism	-
Q9UQ35	SRRM2_HUMAN	856	T	R	Polymorphism	-
Q9UQ49	NEUR3_HUMAN	15	R	Q	Polymorphism	-
Q9UQ52	CNTN6_HUMAN	108	T	A	Unclassified	A breast cancer sample
Q9UQ52	CNTN6_HUMAN	150	F	S	Polymorphism	-
Q9UQ52	CNTN6_HUMAN	585	S	C	Unclassified	A breast cancer sample
Q9UQ52	CNTN6_HUMAN	440	A	S	Polymorphism	-
Q9UQ52	CNTN6_HUMAN	954	E	V	Polymorphism	-
Q9UQ52	CNTN6_HUMAN	303	R	Q	Polymorphism	-
Q9UQ52	CNTN6_HUMAN	314	F	V	Polymorphism	-
Q9UQ53	MGT4B_HUMAN	257	Q	H	Polymorphism	-
Q9UQ53	MGT4B_HUMAN	491	L	F	Polymorphism	-
Q9UQ72	PSG11_HUMAN	83	V	I	Polymorphism	-
Q9UQ72	PSG11_HUMAN	176	A	T	Polymorphism	-
Q9UQ72	PSG11_HUMAN	310	E	K	Polymorphism	-
Q9UQ72	PSG11_HUMAN	264	N	D	Polymorphism	-
Q9UQ74	PSG8_HUMAN	349	V	D	Polymorphism	-
Q9UQ74	PSG8_HUMAN	315	Q	P	Polymorphism	-
Q9UQ84	EXO1_HUMAN	670	E	G	Polymorphism	-
Q9UQ84	EXO1_HUMAN	299	N	S	Polymorphism	-
Q9UQ84	EXO1_HUMAN	428	D	N	Polymorphism	-
Q9UQ84	EXO1_HUMAN	460	V	L	Polymorphism	-
Q9UQ84	EXO1_HUMAN	137	A	S	Polymorphism	-
Q9UQ84	EXO1_HUMAN	589	E	K	Polymorphism	-
Q9UQ84	EXO1_HUMAN	27	V	A	Polymorphism	-
Q9UQ84	EXO1_HUMAN	438	F	C	Polymorphism	-
Q9UQ84	EXO1_HUMAN	410	L	R	Polymorphism	-
Q9UQ84	EXO1_HUMAN	279	N	S	Polymorphism	-
Q9UQ84	EXO1_HUMAN	759	G	E	Polymorphism	-
Q9UQ84	EXO1_HUMAN	153	A	V	Polymorphism	-
Q9UQ84	EXO1_HUMAN	757	P	L	Polymorphism	-
Q9UQ84	EXO1_HUMAN	827	A	V	Polymorphism	-
Q9UQ84	EXO1_HUMAN	76	V	I	Polymorphism	-
Q9UQ84	EXO1_HUMAN	770	P	L	Polymorphism	-
Q9UQ84	EXO1_HUMAN	458	V	M	Polymorphism	-
Q9UQ84	EXO1_HUMAN	640	P	S	Polymorphism	-
Q9UQ84	EXO1_HUMAN	726	H	P	Polymorphism	-
Q9UQ84	EXO1_HUMAN	503	R	T	Polymorphism	-
Q9UQ84	EXO1_HUMAN	109	E	K	Polymorphism	-
Q9UQ84	EXO1_HUMAN	456	S	Y	Polymorphism	-
Q9UQ84	EXO1_HUMAN	634	R	Q	Polymorphism	-
Q9UQ84	EXO1_HUMAN	723	R	C	Polymorphism	-
Q9UQ84	EXO1_HUMAN	93	R	G	Polymorphism	-
Q9UQ84	EXO1_HUMAN	439	T	M	Polymorphism	-
Q9UQ84	EXO1_HUMAN	354	H	R	Polymorphism	-
Q9UQ84	EXO1_HUMAN	640	P	A	Polymorphism	-
Q9UQ84	EXO1_HUMAN	610	S	G	Polymorphism	-
Q9UQ88	CD11A_HUMAN	92	S	P	Polymorphism	-
Q9UQ88	CD11A_HUMAN	57	C	R	Polymorphism	-
Q9UQ88	CD11A_HUMAN	658	V	A	Polymorphism	-
Q9UQ88	CD11A_HUMAN	402	L	S	Polymorphism	-
Q9UQ88	CD11A_HUMAN	93	R	W	Polymorphism	-
Q9UQ90	SPG7_HUMAN	730	N	D	Polymorphism	-
Q9UQ90	SPG7_HUMAN	545	F	L	Polymorphism	-
Q9UQ90	SPG7_HUMAN	294	R	H	Polymorphism	-
Q9UQ90	SPG7_HUMAN	2	A	T	Polymorphism	-
Q9UQ90	SPG7_HUMAN	284	F	P	Unclassified	-
Q9UQ90	SPG7_HUMAN	503	T	A	Polymorphism	-
Q9UQ90	SPG7_HUMAN	692	S	T	Disease	Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]
Q9UQ90	SPG7_HUMAN	635	S	L	Polymorphism	-
Q9UQ90	SPG7_HUMAN	603	A	T	Polymorphism	-
Q9UQ90	SPG7_HUMAN	645	S	T	Polymorphism	-
Q9UQ90	SPG7_HUMAN	583	W	C	Disease	Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]
Q9UQ90	SPG7_HUMAN	623	F	C	Polymorphism	-
Q9UQ90	SPG7_HUMAN	349	G	S	Disease	Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]
Q9UQ90	SPG7_HUMAN	510	A	V	Disease	Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]
Q9UQ90	SPG7_HUMAN	688	R	Q	Polymorphism	-
Q9UQ90	SPG7_HUMAN	650	D	H	Unclassified	-
Q9UQ90	SPG7_HUMAN	486	R	Q	Polymorphism	-
Q9UQB3	CTND2_HUMAN	330	R	H	Polymorphism	-
Q9UQB3	CTND2_HUMAN	454	R	H	Disease	-
Q9UQB3	CTND2_HUMAN	275	G	C	Unclassified	-
Q9UQB3	CTND2_HUMAN	465	D	N	Polymorphism	-
Q9UQB3	CTND2_HUMAN	862	T	M	Unclassified	-
Q9UQB3	CTND2_HUMAN	713	R	C	Disease	-
Q9UQB3	CTND2_HUMAN	507	Q	P	Disease	-
Q9UQB3	CTND2_HUMAN	810	G	R	Polymorphism	-
Q9UQB3	CTND2_HUMAN	224	P	L	Disease	-
Q9UQB3	CTND2_HUMAN	482	A	T	Polymorphism	-
Q9UQB3	CTND2_HUMAN	189	P	L	Disease	-
Q9UQB3	CTND2_HUMAN	1159	P	S	Unclassified	A colorectal cancer sample
Q9UQB3	CTND2_HUMAN	34	G	S	Disease	-
Q9UQB8	BAIP2_HUMAN	519	Q	R	Polymorphism	-
Q9UQB9	AURKC_HUMAN	244	H	Q	Unclassified	A lung adenocarcinoma sample
Q9UQB9	AURKC_HUMAN	52	G	E	Unclassified	A lung adenocarcinoma sample
Q9UQB9	AURKC_HUMAN	148	E	Q	Unclassified	A lung squamous cell carcinoma sample
Q9UQC2	GAB2_HUMAN	320	P	L	Polymorphism	-
Q9UQC2	GAB2_HUMAN	344	P	L	Polymorphism	-
Q9UQC9	CLCA2_HUMAN	754	G	E	Unclassified	A breast cancer sample
Q9UQC9	CLCA2_HUMAN	306	Q	E	Polymorphism	-
Q9UQC9	CLCA2_HUMAN	80	V	I	Polymorphism	-
Q9UQC9	CLCA2_HUMAN	534	G	D	Polymorphism	-
Q9UQD0	SCN8A_HUMAN	215	N	R	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1801	Q	E	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1872	R	L	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1877	N	S	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1872	R	Q	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	307	N	S	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1877	N	S	Disease	Seizures, benign familial infantile, 5 (BFIS5) [MIM:617080]
Q9UQD0	SCN8A_HUMAN	1754	F	S	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	58	D	N	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	891	V	M	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	978	S	G	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	260	F	S	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1466	N	T	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1466	N	K	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1331	L	V	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1483	E	K	Disease	Seizures, benign familial infantile, 5 (BFIS5) [MIM:617080]
Q9UQD0	SCN8A_HUMAN	410	V	L	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	232	S	P	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1592	V	L	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	850	R	E	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1617	R	Q	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	850	R	Q	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	479	E	V	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1605	I	R	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	407	L	F	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1872	R	W	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	846	F	S	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	216	V	D	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1598	V	A	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1865	L	P	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1279	L	V	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	662	R	C	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	984	N	K	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1451	G	S	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1479	I	V	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1596	S	C	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1327	I	V	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1323	A	S	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1768	N	D	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	408	A	T	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	210	F	L	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1650	A	T	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	223	R	G	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	960	V	D	Unclassified	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	767	T	I	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	890	A	T	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQD0	SCN8A_HUMAN	1475	G	R	Disease	Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]
Q9UQF0	SYCY1_HUMAN	138	R	Q	Polymorphism	-
Q9UQF0	SYCY1_HUMAN	307	S	N	Polymorphism	-
Q9UQF0	SYCY1_HUMAN	477	S	F	Polymorphism	-
Q9UQF0	SYCY1_HUMAN	129	V	A	Polymorphism	-
Q9UQF2	JIP1_HUMAN	322	A	V	Polymorphism	-
Q9UQF2	JIP1_HUMAN	59	S	N	Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
Q9UQF2	JIP1_HUMAN	353	R	Q	Polymorphism	-
Q9UQK1	PPR3C_HUMAN	109	A	S	Polymorphism	-
Q9UQK1	PPR3C_HUMAN	249	N	S	Polymorphism	-
Q9UQL6	HDAC5_HUMAN	137	R	Q	Polymorphism	-
Q9UQL6	HDAC5_HUMAN	565	G	A	Polymorphism	-
Q9UQM7	KCC2A_HUMAN	109	E	D	Disease	Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
Q9UQM7	KCC2A_HUMAN	212	P	L	Unclassified	Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
Q9UQM7	KCC2A_HUMAN	466	H	Y	Disease	Mental retardation, autosomal recessive 63 (MRT63) [MIM:618095]
Q9UQM7	KCC2A_HUMAN	212	P	Q	Disease	Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
Q9UQM7	KCC2A_HUMAN	235	P	L	Unclassified	Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
Q9UQM7	KCC2A_HUMAN	286	T	P	Disease	Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
Q9UQM7	KCC2A_HUMAN	112	A	V	Unclassified	Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
Q9UQM7	KCC2A_HUMAN	183	E	V	Disease	Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
Q9UQM7	KCC2A_HUMAN	138	P	A	Unclassified	Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
Q9UQM7	KCC2A_HUMAN	98	F	S	Disease	Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
Q9UQM7	KCC2A_HUMAN	282	H	R	Disease	Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]
Q9UQN3	CHM2B_HUMAN	148	D	Y	Disease	Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795]
Q9UQN3	CHM2B_HUMAN	104	T	N	Disease	Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696]
Q9UQN3	CHM2B_HUMAN	206	Q	H	Disease	Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696]
Q9UQN3	CHM2B_HUMAN	29	I	V	Disease	Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696]
Q9UQP3	TENN_HUMAN	499	T	M	Polymorphism	-
Q9UQP3	TENN_HUMAN	289	D	N	Polymorphism	-
Q9UQP3	TENN_HUMAN	440	R	S	Polymorphism	-
Q9UQP3	TENN_HUMAN	941	T	M	Polymorphism	-
Q9UQP3	TENN_HUMAN	859	M	V	Polymorphism	-
Q9UQP3	TENN_HUMAN	79	R	G	Polymorphism	-
Q9UQP3	TENN_HUMAN	930	P	L	Polymorphism	-
Q9UQP3	TENN_HUMAN	1156	A	V	Polymorphism	-
Q9UQP3	TENN_HUMAN	807	W	R	Polymorphism	-
Q9UQP3	TENN_HUMAN	1135	D	E	Polymorphism	-
Q9UQQ1	NALDL_HUMAN	398	K	T	Polymorphism	-
Q9UQQ1	NALDL_HUMAN	611	L	V	Polymorphism	-
Q9UQQ1	NALDL_HUMAN	2	Q	H	Polymorphism	-
Q9UQQ2	SH2B3_HUMAN	215	A	V	Unclassified	-
Q9UQQ2	SH2B3_HUMAN	262	W	R	Polymorphism	-
Q9UQQ2	SH2B3_HUMAN	182	F	L	Polymorphism	-
Q9UQV4	LAMP3_HUMAN	32	E	G	Polymorphism	-
Q9UQV4	LAMP3_HUMAN	318	I	V	Polymorphism	-
Q9Y210	TRPC6_HUMAN	270	S	T	Disease	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	109	G	S	Disease	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	895	R	L	Disease	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	157	N	T	Polymorphism	-
Q9Y210	TRPC6_HUMAN	175	R	Q	Disease	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	895	R	C	Disease	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	780	L	P	Unclassified	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	395	L	A	Unclassified	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	125	N	S	Unclassified	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	112	P	Q	Disease	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	897	E	K	Disease	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	360	R	H	Unclassified	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	15	P	S	Polymorphism	-
Q9Y210	TRPC6_HUMAN	218	H	L	Disease	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	757	G	D	Disease	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y210	TRPC6_HUMAN	404	A	V	Polymorphism	-
Q9Y210	TRPC6_HUMAN	143	N	S	Disease	Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]
Q9Y215	COLQ_HUMAN	342	D	E	Disease	Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
Q9Y215	COLQ_HUMAN	337	I	T	Disease	Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
Q9Y215	COLQ_HUMAN	59	P	Q	Disease	Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
Q9Y215	COLQ_HUMAN	430	Y	S	Disease	Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
Q9Y215	COLQ_HUMAN	444	C	Y	Disease	Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
Q9Y215	COLQ_HUMAN	410	R	Q	Disease	Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]
Q9Y215	COLQ_HUMAN	312	S	G	Polymorphism	-
Q9Y216	MTMR7_HUMAN	44	P	A	Polymorphism	-
Q9Y216	MTMR7_HUMAN	559	Q	H	Polymorphism	-
Q9Y217	MTMR6_HUMAN	131	A	T	Polymorphism	-
Q9Y217	MTMR6_HUMAN	319	I	V	Polymorphism	-
Q9Y219	JAG2_HUMAN	501	E	K	Polymorphism	-
Q9Y219	JAG2_HUMAN	538	D	N	Polymorphism	-
Q9Y221	NIP7_HUMAN	171	E	Q	Unclassified	A breast cancer sample
Q9Y222	DMTF1_HUMAN	479	V	I	Polymorphism	-
Q9Y223	GLCNE_HUMAN	631	A	V	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	519	N	S	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	303	C	V	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	460	A	V	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	630	A	T	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	524	A	V	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	132	H	Q	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	27	P	S	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	675	Y	H	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	378	D	Y	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	557	I	T	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	528	F	C	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	36	P	L	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	631	A	T	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	266	R	W	Disease	Sialuria (SIALURIA) [MIM:269921]
Q9Y223	GLCNE_HUMAN	206	G	S	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	587	I	T	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	266	R	Q	Disease	Sialuria (SIALURIA) [MIM:269921]
Q9Y223	GLCNE_HUMAN	696	V	M	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	572	V	L	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	225	D	N	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	171	M	V	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	472	I	T	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	576	G	E	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	200	I	F	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	246	R	Q	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	216	V	A	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	176	D	V	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	331	V	A	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	263	R	L	Disease	Sialuria (SIALURIA) [MIM:269921]
Q9Y223	GLCNE_HUMAN	162	R	C	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	306	R	Q	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	246	R	W	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	712	M	T	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	600	A	T	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y223	GLCNE_HUMAN	177	R	C	Disease	Nonaka myopathy (NM) [MIM:605820]
Q9Y226	S22AD_HUMAN	43	V	I	Polymorphism	-
Q9Y226	S22AD_HUMAN	443	L	F	Polymorphism	-
Q9Y227	ENTP4_HUMAN	341	I	V	Polymorphism	-
Q9Y227	ENTP4_HUMAN	354	K	E	Polymorphism	-
Q9Y228	T3JAM_HUMAN	373	Q	E	Polymorphism	-
Q9Y228	T3JAM_HUMAN	529	P	S	Unclassified	A colorectal cancer sample
Q9Y231	FUT9_HUMAN	237	T	A	Polymorphism	-
Q9Y231	FUT9_HUMAN	358	W	G	Polymorphism	-
Q9Y232	CDYL_HUMAN	2	T	A	Polymorphism	-
Q9Y232	CDYL_HUMAN	9	S	P	Polymorphism	-
Q9Y232	CDYL_HUMAN	48	V	A	Polymorphism	-
Q9Y232	CDYL_HUMAN	60	A	G	Polymorphism	-
Q9Y233	PDE10_HUMAN	303	L	P	Polymorphism	-
Q9Y233	PDE10_HUMAN	97	Y	C	Disease	Dyskinesia, limb and orofacial, infantile-onset (IOLOD) [MIM:616921]
Q9Y233	PDE10_HUMAN	324	F	L	Disease	Striatal degeneration, autosomal dominant 2 (ADSD2) [MIM:616922]
Q9Y233	PDE10_HUMAN	707	D	N	Polymorphism	-
Q9Y233	PDE10_HUMAN	290	F	L	Disease	Striatal degeneration, autosomal dominant 2 (ADSD2) [MIM:616922]
Q9Y233	PDE10_HUMAN	706	R	K	Polymorphism	-
Q9Y233	PDE10_HUMAN	106	A	P	Disease	Dyskinesia, limb and orofacial, infantile-onset (IOLOD) [MIM:616921]
Q9Y234	LIPT_HUMAN	98	R	G	Disease	Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299]
Q9Y234	LIPT_HUMAN	179	T	A	Disease	Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299]
Q9Y234	LIPT_HUMAN	71	S	F	Disease	Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299]
Q9Y235	ABEC2_HUMAN	136	I	T	Polymorphism	-
Q9Y236	OSGI2_HUMAN	319	C	S	Polymorphism	-
Q9Y236	OSGI2_HUMAN	101	Y	H	Polymorphism	-
Q9Y238	DLEC1_HUMAN	1022	K	N	Polymorphism	-
Q9Y238	DLEC1_HUMAN	79	L	R	Polymorphism	-
Q9Y238	DLEC1_HUMAN	192	S	F	Polymorphism	-
Q9Y238	DLEC1_HUMAN	1227	L	P	Polymorphism	-
Q9Y238	DLEC1_HUMAN	1150	N	D	Polymorphism	-
Q9Y238	DLEC1_HUMAN	351	P	R	Unclassified	A breast cancer sample
Q9Y239	NOD1_HUMAN	610	A	T	Polymorphism	-
Q9Y239	NOD1_HUMAN	372	D	N	Polymorphism	-
Q9Y239	NOD1_HUMAN	266	E	K	Polymorphism	-
Q9Y239	NOD1_HUMAN	447	R	H	Polymorphism	-
Q9Y239	NOD1_HUMAN	605	R	W	Polymorphism	-
Q9Y240	CLC11_HUMAN	104	P	R	Polymorphism	-
Q9Y242	TCF19_HUMAN	241	P	L	Polymorphism	-
Q9Y242	TCF19_HUMAN	109	P	S	Polymorphism	-
Q9Y242	TCF19_HUMAN	211	M	V	Polymorphism	-
Q9Y243	AKT3_HUMAN	17	E	K	Disease	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
Q9Y243	AKT3_HUMAN	171	G	R	Unclassified	A glioblastoma multiforme sample
Q9Y243	AKT3_HUMAN	465	R	W	Disease	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
Q9Y243	AKT3_HUMAN	229	N	S	Disease	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
Q9Y243	AKT3_HUMAN	17	E	K	Unclassified	Melanoma
Q9Y250	LZTS1_HUMAN	29	S	P	Polymorphism	-
Q9Y250	LZTS1_HUMAN	475	L	V	Polymorphism	-
Q9Y250	LZTS1_HUMAN	50	S	F	Polymorphism	-
Q9Y250	LZTS1_HUMAN	119	K	E	Polymorphism	-
Q9Y251	HPSE_HUMAN	260	N	S	Unclassified	Some hepatocellular carcinoma
Q9Y251	HPSE_HUMAN	307	K	R	Polymorphism	-
Q9Y252	RNF6_HUMAN	244	G	D	Polymorphism	-
Q9Y252	RNF6_HUMAN	48	N	S	Polymorphism	-
Q9Y252	RNF6_HUMAN	572	R	Q	Polymorphism	-
Q9Y252	RNF6_HUMAN	164	I	T	Polymorphism	-
Q9Y252	RNF6_HUMAN	242	A	T	Polymorphism	-
Q9Y252	RNF6_HUMAN	203	V	E	Polymorphism	-
Q9Y252	RNF6_HUMAN	623	S	N	Polymorphism	-
Q9Y252	RNF6_HUMAN	102	R	K	Polymorphism	-
Q9Y253	POLH_HUMAN	209	G	V	Polymorphism	-
Q9Y253	POLH_HUMAN	122	T	P	Disease	Xeroderma pigmentosum variant type (XPV) [MIM:278750]
Q9Y253	POLH_HUMAN	478	T	M	Polymorphism	-
Q9Y253	POLH_HUMAN	111	R	H	Disease	Xeroderma pigmentosum variant type (XPV) [MIM:278750]
Q9Y253	POLH_HUMAN	647	M	L	Polymorphism	-
Q9Y253	POLH_HUMAN	263	G	V	Disease	Xeroderma pigmentosum variant type (XPV) [MIM:278750]
Q9Y253	POLH_HUMAN	266	V	D	Disease	Xeroderma pigmentosum variant type (XPV) [MIM:278750]
Q9Y253	POLH_HUMAN	93	R	P	Disease	Xeroderma pigmentosum variant type (XPV) [MIM:278750]
Q9Y253	POLH_HUMAN	153	G	D	Unclassified	A breast cancer sample
Q9Y253	POLH_HUMAN	584	L	P	Polymorphism	-
Q9Y253	POLH_HUMAN	295	G	R	Disease	Xeroderma pigmentosum variant type (XPV) [MIM:278750]
Q9Y253	POLH_HUMAN	535	K	E	Disease	Xeroderma pigmentosum variant type (XPV) [MIM:278750]
Q9Y253	POLH_HUMAN	589	K	T	Disease	Xeroderma pigmentosum variant type (XPV) [MIM:278750]
Q9Y253	POLH_HUMAN	595	M	V	Polymorphism	-
Q9Y253	POLH_HUMAN	334	R	W	Polymorphism	-
Q9Y253	POLH_HUMAN	692	T	A	Disease	Xeroderma pigmentosum variant type (XPV) [MIM:278750]
Q9Y253	POLH_HUMAN	361	R	S	Disease	Xeroderma pigmentosum variant type (XPV) [MIM:278750]
Q9Y256	FACE2_HUMAN	326	P	A	Unclassified	A breast cancer sample
Q9Y257	KCNK6_HUMAN	240	V	I	Polymorphism	-
Q9Y257	KCNK6_HUMAN	259	V	M	Polymorphism	-
Q9Y257	KCNK6_HUMAN	150	T	I	Polymorphism	-
Q9Y258	CCL26_HUMAN	18	L	R	Polymorphism	-
Q9Y259	CHKB_HUMAN	301	T	I	Polymorphism	-
Q9Y259	CHKB_HUMAN	283	E	K	Disease	Muscular dystrophy, congenital, megaconial type (MDCMC) [MIM:602541]
Q9Y259	CHKB_HUMAN	328	Q	R	Polymorphism	-
Q9Y259	CHKB_HUMAN	377	R	L	Disease	Muscular dystrophy, congenital, megaconial type (MDCMC) [MIM:602541]
Q9Y261	FOXA2_HUMAN	328	A	V	Unclassified	-
Q9Y263	PLAP_HUMAN	752	L	F	Disease	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) [MIM:617527]
Q9Y263	PLAP_HUMAN	23	G	V	Disease	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) [MIM:617527]
Q9Y264	ANGP4_HUMAN	395	E	K	Polymorphism	-
Q9Y267	S22AE_HUMAN	560	P	R	Polymorphism	-
Q9Y267	S22AE_HUMAN	112	K	E	Polymorphism	-
Q9Y267	S22AE_HUMAN	108	P	H	Polymorphism	-
Q9Y267	S22AE_HUMAN	512	A	V	Polymorphism	-
Q9Y267	S22AE_HUMAN	144	I	T	Polymorphism	-
Q9Y267	S22AE_HUMAN	284	V	M	Polymorphism	-
Q9Y267	S22AE_HUMAN	466	L	P	Polymorphism	-
Q9Y267	S22AE_HUMAN	245	S	L	Polymorphism	-
Q9Y267	S22AE_HUMAN	292	S	G	Polymorphism	-
Q9Y274	SIA10_HUMAN	311	A	T	Polymorphism	-
Q9Y275	TN13B_HUMAN	105	A	T	Polymorphism	-
Q9Y276	BCS1_HUMAN	144	R	Q	Disease	GRACILE syndrome (GRACILE) [MIM:603358]
Q9Y276	BCS1_HUMAN	73	R	C	Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
Q9Y276	BCS1_HUMAN	353	V	M	Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
Q9Y276	BCS1_HUMAN	50	T	A	Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
Q9Y276	BCS1_HUMAN	114	R	W	Disease	Bjoernstad syndrome (BJS) [MIM:262000]
Q9Y276	BCS1_HUMAN	129	G	R	Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
Q9Y276	BCS1_HUMAN	45	R	C	Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
Q9Y276	BCS1_HUMAN	99	P	L	Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
Q9Y276	BCS1_HUMAN	78	S	G	Disease	GRACILE syndrome (GRACILE) [MIM:603358]
Q9Y276	BCS1_HUMAN	184	R	C	Disease	Bjoernstad syndrome (BJS) [MIM:262000]
Q9Y276	BCS1_HUMAN	327	V	A	Disease	GRACILE syndrome (GRACILE) [MIM:603358]
Q9Y276	BCS1_HUMAN	35	G	R	Disease	Bjoernstad syndrome (BJS) [MIM:262000]
Q9Y276	BCS1_HUMAN	301	Y	N	Disease	Bjoernstad syndrome (BJS) [MIM:262000]
Q9Y276	BCS1_HUMAN	368	F	I	Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
Q9Y276	BCS1_HUMAN	306	R	H	Disease	Bjoernstad syndrome (BJS) [MIM:262000]
Q9Y276	BCS1_HUMAN	183	R	C	Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
Q9Y276	BCS1_HUMAN	155	R	P	Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
Q9Y276	BCS1_HUMAN	277	S	N	Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
Q9Y276	BCS1_HUMAN	302	Q	E	Disease	Bjoernstad syndrome (BJS) [MIM:262000]
Q9Y276	BCS1_HUMAN	184	R	C	Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]
Q9Y276	BCS1_HUMAN	183	R	H	Disease	Bjoernstad syndrome (BJS) [MIM:262000]
Q9Y278	HS3S2_HUMAN	339	P	A	Polymorphism	-
Q9Y279	VSIG4_HUMAN	108	R	W	Polymorphism	-
Q9Y279	VSIG4_HUMAN	279	G	E	Polymorphism	-
Q9Y279	VSIG4_HUMAN	272	G	E	Polymorphism	-
Q9Y279	VSIG4_HUMAN	397	S	I	Polymorphism	-
Q9Y281	COF2_HUMAN	35	A	T	Disease	Nemaline myopathy 7 (NEM7) [MIM:610687]
Q9Y281	COF2_HUMAN	7	V	M	Unclassified	Nemaline myopathy 7 (NEM7) [MIM:610687]
Q9Y281	COF2_HUMAN	47	I	M	Unclassified	A breast cancer sample
Q9Y282	ERGI3_HUMAN	113	I	L	Polymorphism	-
Q9Y282	ERGI3_HUMAN	297	T	K	Unclassified	A colorectal cancer sample
Q9Y283	INVS_HUMAN	242	S	L	Polymorphism	-
Q9Y283	INVS_HUMAN	482	P	R	Disease	Nephronophthisis 2 (NPHP2) [MIM:602088]
Q9Y283	INVS_HUMAN	493	L	S	Disease	Nephronophthisis 2 (NPHP2) [MIM:602088]
Q9Y283	INVS_HUMAN	888	S	R	Polymorphism	-
Q9Y284	ASTER_HUMAN	104	P	A	Polymorphism	-
Q9Y285	SYFA_HUMAN	341	Q	R	Polymorphism	-
Q9Y286	SIGL7_HUMAN	215	L	P	Unclassified	A colorectal cancer sample
Q9Y287	ITM2B_HUMAN	15	A	T	Polymorphism	-
Q9Y287	ITM2B_HUMAN	261	E	A	Disease	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) [MIM:616079]
Q9Y289	SC5A6_HUMAN	492	S	N	Polymorphism	-
Q9Y289	SC5A6_HUMAN	481	S	F	Polymorphism	-
Q9Y296	TPPC4_HUMAN	78	D	A	Polymorphism	-
Q9Y297	FBW1A_HUMAN	592	P	H	Polymorphism	-
Q9Y297	FBW1A_HUMAN	543	A	S	Polymorphism	-
Q9Y2A4	ZN443_HUMAN	485	C	F	Polymorphism	-
Q9Y2A4	ZN443_HUMAN	111	K	I	Polymorphism	-
Q9Y2A4	ZN443_HUMAN	397	Q	H	Polymorphism	-
Q9Y2A4	ZN443_HUMAN	111	K	N	Polymorphism	-
Q9Y2A4	ZN443_HUMAN	591	P	Q	Polymorphism	-
Q9Y2A9	B3GN3_HUMAN	317	I	F	Polymorphism	-
Q9Y2A9	B3GN3_HUMAN	328	R	H	Polymorphism	-
Q9Y2B1	RXLT1_HUMAN	340	R	L	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041]
Q9Y2B1	RXLT1_HUMAN	339	Y	C	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041]
Q9Y2B2	PIGL_HUMAN	167	L	P	Disease	Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM:280000]
Q9Y2B4	T53G5_HUMAN	57	R	H	Polymorphism	-
Q9Y2B4	T53G5_HUMAN	172	V	A	Polymorphism	-
Q9Y2B4	T53G5_HUMAN	257	V	A	Polymorphism	-
Q9Y2B4	T53G5_HUMAN	275	H	N	Polymorphism	-
Q9Y2B4	T53G5_HUMAN	219	H	Q	Polymorphism	-
Q9Y2B4	T53G5_HUMAN	221	P	L	Polymorphism	-
Q9Y2B4	T53G5_HUMAN	191	R	H	Polymorphism	-
Q9Y2C2	UST_HUMAN	21	M	L	Polymorphism	-
Q9Y2C3	B3GT5_HUMAN	144	R	H	Polymorphism	-
Q9Y2C3	B3GT5_HUMAN	27	S	R	Polymorphism	-
Q9Y2C3	B3GT5_HUMAN	85	M	T	Polymorphism	-
Q9Y2C4	EXOG_HUMAN	277	G	V	Polymorphism	-
Q9Y2C5	S17A4_HUMAN	372	A	T	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	708	Q	H	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	592	G	V	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	345	H	Y	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	327	V	M	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	249	S	P	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	474	A	V	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	210	A	T	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	474	A	T	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	690	N	T	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	465	V	I	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	247	R	K	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	283	I	V	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	427	V	A	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	210	A	G	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	194	L	P	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	783	M	V	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	120	I	T	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	442	D	A	Polymorphism	-
Q9Y2C9	TLR6_HUMAN	128	L	V	Polymorphism	-
Q9Y2D1	ATF5_HUMAN	121	P	L	Polymorphism	-
Q9Y2D5	AKAP2_HUMAN	561	L	S	Polymorphism	-
Q9Y2D8	ADIP_HUMAN	578	C	R	Polymorphism	-
Q9Y2E4	DIP2C_HUMAN	1264	V	M	Unclassified	A breast cancer sample
Q9Y2E4	DIP2C_HUMAN	586	A	E	Unclassified	A breast cancer sample
Q9Y2E4	DIP2C_HUMAN	622	G	S	Unclassified	A colorectal cancer sample
Q9Y2E5	MA2B2_HUMAN	446	M	V	Polymorphism	-
Q9Y2E5	MA2B2_HUMAN	365	R	C	Polymorphism	-
Q9Y2E5	MA2B2_HUMAN	541	N	S	Polymorphism	-
Q9Y2E5	MA2B2_HUMAN	320	V	M	Polymorphism	-
Q9Y2E5	MA2B2_HUMAN	243	Q	P	Polymorphism	-
Q9Y2F5	ICE1_HUMAN	596	K	E	Polymorphism	-
Q9Y2F5	ICE1_HUMAN	901	V	I	Polymorphism	-
Q9Y2F5	ICE1_HUMAN	1597	Q	P	Polymorphism	-
Q9Y2F5	ICE1_HUMAN	1054	T	A	Polymorphism	-
Q9Y2F5	ICE1_HUMAN	1618	P	L	Polymorphism	-
Q9Y2F5	ICE1_HUMAN	1058	G	D	Polymorphism	-
Q9Y2F5	ICE1_HUMAN	391	C	S	Polymorphism	-
Q9Y2G1	MYRF_HUMAN	723	A	T	Polymorphism	-
Q9Y2G1	MYRF_HUMAN	695	R	H	Unclassified	Cardiac-urogenital syndrome (CUGS) [MIM:618280]
Q9Y2G1	MYRF_HUMAN	679	V	A	Unclassified	Cardiac-urogenital syndrome (CUGS) [MIM:618280]
Q9Y2G1	MYRF_HUMAN	435	G	R	Disease	Cardiac-urogenital syndrome (CUGS) [MIM:618280]
Q9Y2G1	MYRF_HUMAN	403	Q	R	Disease	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MMERV) [MIM:618113]
Q9Y2G2	CARD8_HUMAN	99	E	A	Polymorphism	-
Q9Y2G2	CARD8_HUMAN	68	I	V	Polymorphism	-
Q9Y2G4	ANKR6_HUMAN	233	T	M	Polymorphism	-
Q9Y2G4	ANKR6_HUMAN	122	Q	E	Polymorphism	-
Q9Y2G4	ANKR6_HUMAN	128	I	V	Polymorphism	-
Q9Y2G4	ANKR6_HUMAN	545	T	A	Polymorphism	-
Q9Y2G4	ANKR6_HUMAN	550	A	T	Polymorphism	-
Q9Y2H0	DLGP4_HUMAN	861	R	Q	Polymorphism	-
Q9Y2H0	DLGP4_HUMAN	486	A	T	Polymorphism	-
Q9Y2H1	ST38L_HUMAN	99	G	A	Unclassified	-
Q9Y2H2	SAC2_HUMAN	453	I	V	Polymorphism	-
Q9Y2H2	SAC2_HUMAN	997	N	D	Polymorphism	-
Q9Y2H5	PKHA6_HUMAN	837	R	K	Polymorphism	-
Q9Y2H5	PKHA6_HUMAN	43	V	I	Polymorphism	-
Q9Y2H6	FND3A_HUMAN	107	S	G	Polymorphism	-
Q9Y2H8	ZN510_HUMAN	634	G	E	Polymorphism	-
Q9Y2H8	ZN510_HUMAN	273	N	K	Polymorphism	-
Q9Y2H8	ZN510_HUMAN	43	Q	R	Polymorphism	-
Q9Y2H8	ZN510_HUMAN	89	C	R	Polymorphism	-
Q9Y2H8	ZN510_HUMAN	401	M	I	Polymorphism	-
Q9Y2H8	ZN510_HUMAN	398	H	D	Polymorphism	-
Q9Y2H9	MAST1_HUMAN	98	G	V	Unclassified	-
Q9Y2H9	MAST1_HUMAN	915	A	T	Unclassified	-
Q9Y2H9	MAST1_HUMAN	93	S	L	Unclassified	-
Q9Y2H9	MAST1_HUMAN	1177	P	R	Unclassified	-
Q9Y2H9	MAST1_HUMAN	269	A	T	Unclassified	A metastatic melanoma sample
Q9Y2H9	MAST1_HUMAN	1292	P	S	Polymorphism	-
Q9Y2H9	MAST1_HUMAN	1240	H	Y	Unclassified	An ovarian serous carcinoma sample
Q9Y2H9	MAST1_HUMAN	517	G	S	Disease	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) [MIM:618273]
Q9Y2H9	MAST1_HUMAN	1048	A	S	Polymorphism	-
Q9Y2I1	NISCH_HUMAN	299	V	I	Polymorphism	-
Q9Y2I1	NISCH_HUMAN	1056	A	V	Polymorphism	-
Q9Y2I6	NINL_HUMAN	276	R	W	Polymorphism	-
Q9Y2I6	NINL_HUMAN	296	T	A	Polymorphism	-
Q9Y2I6	NINL_HUMAN	191	S	R	Polymorphism	-
Q9Y2I6	NINL_HUMAN	1366	R	H	Polymorphism	-
Q9Y2I6	NINL_HUMAN	1077	D	N	Polymorphism	-
Q9Y2I6	NINL_HUMAN	969	R	G	Polymorphism	-
Q9Y2I6	NINL_HUMAN	79	G	V	Polymorphism	-
Q9Y2I6	NINL_HUMAN	973	E	K	Polymorphism	-
Q9Y2I6	NINL_HUMAN	1276	R	C	Polymorphism	-
Q9Y2I7	FYV1_HUMAN	1103	K	R	Disease	Corneal dystrophy, fleck (CFD) [MIM:121850]
Q9Y2I7	FYV1_HUMAN	998	T	S	Polymorphism	-
Q9Y2I7	FYV1_HUMAN	932	L	S	Polymorphism	-
Q9Y2I7	FYV1_HUMAN	1858	R	Q	Polymorphism	-
Q9Y2I7	FYV1_HUMAN	617	M	V	Polymorphism	-
Q9Y2I7	FYV1_HUMAN	1183	Q	K	Polymorphism	-
Q9Y2I7	FYV1_HUMAN	1033	S	A	Polymorphism	-
Q9Y2I7	FYV1_HUMAN	995	Q	L	Polymorphism	-
Q9Y2I7	FYV1_HUMAN	696	S	N	Polymorphism	-
Q9Y2I8	WDR37_HUMAN	225	I	V	Polymorphism	-
Q9Y2I8	WDR37_HUMAN	11	A	T	Polymorphism	-
Q9Y2I8	WDR37_HUMAN	221	Q	K	Polymorphism	-
Q9Y2I9	TBC30_HUMAN	759	N	D	Polymorphism	-
Q9Y2I9	TBC30_HUMAN	296	Q	H	Polymorphism	-
Q9Y2I9	TBC30_HUMAN	752	V	I	Polymorphism	-
Q9Y2I9	TBC30_HUMAN	596	N	D	Polymorphism	-
Q9Y2J2	E41L3_HUMAN	555	A	T	Polymorphism	-
Q9Y2J2	E41L3_HUMAN	575	Y	C	Polymorphism	-
Q9Y2J2	E41L3_HUMAN	859	E	Q	Polymorphism	-
Q9Y2J4	AMOL2_HUMAN	731	E	D	Polymorphism	-
Q9Y2J4	AMOL2_HUMAN	342	A	P	Polymorphism	-
Q9Y2J4	AMOL2_HUMAN	415	G	S	Polymorphism	-
Q9Y2J4	AMOL2_HUMAN	227	T	I	Polymorphism	-
Q9Y2K2	SIK3_HUMAN	389	H	L	Unclassified	A breast cancer sample
Q9Y2K2	SIK3_HUMAN	1136	P	R	Polymorphism	-
Q9Y2K2	SIK3_HUMAN	1161	A	V	Unclassified	A breast cancer sample
Q9Y2K2	SIK3_HUMAN	1098	D	E	Polymorphism	-
Q9Y2K2	SIK3_HUMAN	187	R	C	Disease	Spondyloepimetaphyseal dysplasia, Krakow type (SEMDK) [MIM:618162]
Q9Y2K3	MYH15_HUMAN	949	T	I	Polymorphism	-
Q9Y2K3	MYH15_HUMAN	1125	T	A	Polymorphism	-
Q9Y2K3	MYH15_HUMAN	504	H	Y	Polymorphism	-
Q9Y2K3	MYH15_HUMAN	1467	D	N	Polymorphism	-
Q9Y2K3	MYH15_HUMAN	454	R	Q	Polymorphism	-
Q9Y2K5	R3HD2_HUMAN	35	T	A	Polymorphism	-
Q9Y2K6	UBP20_HUMAN	103	S	Y	Polymorphism	-
Q9Y2K6	UBP20_HUMAN	444	V	I	Polymorphism	-
Q9Y2K9	STB5L_HUMAN	568	T	S	Polymorphism	-
Q9Y2K9	STB5L_HUMAN	1043	V	I	Unclassified	-
Q9Y2K9	STB5L_HUMAN	855	V	I	Polymorphism	-
Q9Y2L1	RRP44_HUMAN	269	N	S	Polymorphism	-
Q9Y2L1	RRP44_HUMAN	326	T	R	Polymorphism	-
Q9Y2L5	TPPC8_HUMAN	137	L	S	Polymorphism	-
Q9Y2L5	TPPC8_HUMAN	1146	T	A	Polymorphism	-
Q9Y2L5	TPPC8_HUMAN	74	N	S	Polymorphism	-
Q9Y2L5	TPPC8_HUMAN	1189	I	V	Polymorphism	-
Q9Y2L5	TPPC8_HUMAN	708	Q	E	Polymorphism	-
Q9Y2L5	TPPC8_HUMAN	517	S	G	Polymorphism	-
Q9Y2L5	TPPC8_HUMAN	537	R	Q	Unclassified	A breast cancer sample
Q9Y2L5	TPPC8_HUMAN	954	R	H	Polymorphism	-
Q9Y2L5	TPPC8_HUMAN	1298	S	P	Polymorphism	-
Q9Y2L9	LRCH1_HUMAN	486	A	S	Polymorphism	-
Q9Y2L9	LRCH1_HUMAN	234	S	P	Polymorphism	-
Q9Y2M0	FAN1_HUMAN	937	G	D	Disease	Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
Q9Y2M0	FAN1_HUMAN	929	Q	P	Disease	Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
Q9Y2M0	FAN1_HUMAN	233	G	E	Polymorphism	-
Q9Y2M0	FAN1_HUMAN	871	C	R	Disease	Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
Q9Y2M0	FAN1_HUMAN	960	D	N	Disease	Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
Q9Y2M2	SSUH2_HUMAN	118	P	Q	Disease	-
Q9Y2M2	SSUH2_HUMAN	29	P	L	Polymorphism	-
Q9Y2N7	HIF3A_HUMAN	463	F	L	Polymorphism	-
Q9Y2N7	HIF3A_HUMAN	343	Q	R	Polymorphism	-
Q9Y2P0	ZN835_HUMAN	88	E	A	Polymorphism	-
Q9Y2P0	ZN835_HUMAN	29	E	K	Polymorphism	-
Q9Y2P4	S27A6_HUMAN	19	L	V	Polymorphism	-
Q9Y2P5	S27A5_HUMAN	50	M	T	Polymorphism	-
Q9Y2P5	S27A5_HUMAN	53	R	W	Polymorphism	-
Q9Y2P7	ZN256_HUMAN	304	F	I	Polymorphism	-
Q9Y2Q0	AT8A1_HUMAN	673	T	M	Polymorphism	-
Q9Y2Q9	RT28_HUMAN	103	R	W	Polymorphism	-
Q9Y2R2	PTN22_HUMAN	620	R	W	Disease	Vitiligo (VTLG) [MIM:193200]
Q9Y2R2	PTN22_HUMAN	620	R	W	Disease	Systemic lupus erythematosus (SLE) [MIM:152700]
Q9Y2R2	PTN22_HUMAN	620	R	W	Disease	Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]
Q9Y2R2	PTN22_HUMAN	266	R	W	Polymorphism	-
Q9Y2R2	PTN22_HUMAN	620	R	W	Disease	Rheumatoid arthritis (RA) [MIM:180300]
Q9Y2R2	PTN22_HUMAN	201	S	F	Polymorphism	-
Q9Y2R2	PTN22_HUMAN	263	R	Q	Polymorphism	-
Q9Y2R4	DDX52_HUMAN	403	M	V	Polymorphism	-
Q9Y2R9	RT07_HUMAN	184	M	V	Disease	Combined oxidative phosphorylation deficiency 34 (COXPD34) [MIM:617872]
Q9Y2R9	RT07_HUMAN	2	A	V	Polymorphism	-
Q9Y2T1	AXIN2_HUMAN	50	S	P	Unclassified	Polymorphism associated with increased risk of lung cancer
Q9Y2T6	GPR55_HUMAN	195	G	V	Polymorphism	-
Q9Y2T6	GPR55_HUMAN	215	T	N	Polymorphism	-
Q9Y2T7	YBOX2_HUMAN	9	G	V	Polymorphism	-
Q9Y2T7	YBOX2_HUMAN	63	S	P	Polymorphism	-
Q9Y2U5	M3K2_HUMAN	110	I	V	Polymorphism	-
Q9Y2U5	M3K2_HUMAN	112	M	I	Unclassified	A lung large cell carcinoma sample
Q9Y2U5	M3K2_HUMAN	140	D	G	Polymorphism	-
Q9Y2U8	MAN1_HUMAN	260	D	Y	Polymorphism	-
Q9Y2V0	CO041_HUMAN	94	Y	C	Disease	Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631]
Q9Y2V0	CO041_HUMAN	178	L	Q	Disease	Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631]
Q9Y2V0	CO041_HUMAN	73	L	V	Polymorphism	-
Q9Y2V3	RX_HUMAN	160	Y	H	Unclassified	Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]
Q9Y2V3	RX_HUMAN	44	D	E	Polymorphism	-
Q9Y2V3	RX_HUMAN	192	R	Q	Disease	Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]
Q9Y2V3	RX_HUMAN	188	R	Q	Unclassified	Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]
Q9Y2V3	RX_HUMAN	187	R	Q	Unclassified	Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]
Q9Y2V7	COG6_HUMAN	549	G	V	Disease	Congenital disorder of glycosylation 2L (CDG2L) [MIM:614576]
Q9Y2V7	COG6_HUMAN	32	C	S	Polymorphism	-
Q9Y2V7	COG6_HUMAN	300	H	Y	Polymorphism	-
Q9Y2V7	COG6_HUMAN	447	M	T	Polymorphism	-
Q9Y2V7	COG6_HUMAN	10	A	T	Polymorphism	-
Q9Y2W1	TR150_HUMAN	201	A	V	Polymorphism	-
Q9Y2W3	S45A1_HUMAN	244	A	V	Disease	Intellectual developmental disorder with neuropsychiatric features (IDDNPF) [MIM:617532]
Q9Y2W3	S45A1_HUMAN	210	R	W	Disease	Intellectual developmental disorder with neuropsychiatric features (IDDNPF) [MIM:617532]
Q9Y2W3	S45A1_HUMAN	90	I	T	Disease	Intellectual developmental disorder with neuropsychiatric features (IDDNPF) [MIM:617532]
Q9Y2W6	TDRKH_HUMAN	257	G	A	Polymorphism	-
Q9Y2W7	CSEN_HUMAN	119	A	V	Polymorphism	-
Q9Y2W7	CSEN_HUMAN	179	D	Y	Unclassified	A breast cancer sample
Q9Y2W7	CSEN_HUMAN	170	A	S	Unclassified	A breast cancer sample
Q9Y2X0	MED16_HUMAN	874	E	K	Polymorphism	-
Q9Y2X0	MED16_HUMAN	770	L	F	Polymorphism	-
Q9Y2X3	NOP58_HUMAN	400	D	A	Polymorphism	-
Q9Y2X3	NOP58_HUMAN	387	N	T	Polymorphism	-
Q9Y2X3	NOP58_HUMAN	508	T	P	Polymorphism	-
Q9Y2X3	NOP58_HUMAN	389	A	P	Polymorphism	-
Q9Y2X9	ZN281_HUMAN	527	I	T	Unclassified	A breast cancer sample
Q9Y2Y0	AR2BP_HUMAN	45	M	R	Disease	Retinitis pigmentosa 82 with or without situs inversus (RP82) [MIM:615434]
Q9Y2Y0	AR2BP_HUMAN	87	E	K	Polymorphism	-
Q9Y2Y1	RPC10_HUMAN	24	S	A	Polymorphism	-
Q9Y2Y4	ZBT32_HUMAN	174	R	S	Polymorphism	-
Q9Y2Y6	TMM98_HUMAN	196	H	P	Disease	Nanophthalmos 4 (NNO4) [MIM:615972]
Q9Y2Y6	TMM98_HUMAN	83	W	R	Polymorphism	-
Q9Y2Y6	TMM98_HUMAN	193	A	P	Disease	Nanophthalmos 4 (NNO4) [MIM:615972]
Q9Y2Y8	PRG3_HUMAN	109	I	T	Polymorphism	-
Q9Y2Y8	PRG3_HUMAN	3	C	R	Polymorphism	-
Q9Y2Z2	MTO1_HUMAN	453	A	T	Disease	Combined oxidative phosphorylation deficiency 10 (COXPD10) [MIM:614702]
Q9Y2Z4	SYYM_HUMAN	46	G	D	Disease	Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2) [MIM:613561]
Q9Y2Z4	SYYM_HUMAN	191	G	V	Polymorphism	-
Q9Y2Z4	SYYM_HUMAN	52	F	L	Disease	Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2) [MIM:613561]
Q9Y2Z9	COQ6_HUMAN	255	G	R	Disease	Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]
Q9Y2Z9	COQ6_HUMAN	300	D	Y	Polymorphism	-
Q9Y2Z9	COQ6_HUMAN	395	T	M	Polymorphism	-
Q9Y2Z9	COQ6_HUMAN	261	P	L	Unclassified	Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]
Q9Y2Z9	COQ6_HUMAN	339	D	V	Polymorphism	-
Q9Y2Z9	COQ6_HUMAN	353	A	D	Disease	Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]
Q9Y2Z9	COQ6_HUMAN	208	D	H	Disease	-
Q9Y2Z9	COQ6_HUMAN	406	V	M	Polymorphism	-
Q9Y2Z9	COQ6_HUMAN	287	E	K	Polymorphism	-
Q9Y303	NAGA_HUMAN	294	D	N	Unclassified	A colorectal cancer sample
Q9Y305	ACOT9_HUMAN	305	N	H	Unclassified	A pancreatic ductal adenocarcinoma sample
Q9Y312	AAR2_HUMAN	124	P	T	Polymorphism	-
Q9Y314	NOSIP_HUMAN	168	T	M	Polymorphism	-
Q9Y334	VWA7_HUMAN	139	R	H	Polymorphism	-
Q9Y334	VWA7_HUMAN	680	R	Q	Polymorphism	-
Q9Y334	VWA7_HUMAN	861	T	A	Polymorphism	-
Q9Y334	VWA7_HUMAN	711	R	C	Polymorphism	-
Q9Y334	VWA7_HUMAN	488	R	Q	Polymorphism	-
Q9Y334	VWA7_HUMAN	704	G	V	Polymorphism	-
Q9Y336	SIGL9_HUMAN	131	K	Q	Polymorphism	-
Q9Y336	SIGL9_HUMAN	315	A	E	Polymorphism	-
Q9Y336	SIGL9_HUMAN	349	V	A	Polymorphism	-
Q9Y336	SIGL9_HUMAN	316	A	D	Polymorphism	-
Q9Y336	SIGL9_HUMAN	125	S	N	Polymorphism	-
Q9Y336	SIGL9_HUMAN	100	K	E	Polymorphism	-
Q9Y336	SIGL9_HUMAN	147	N	K	Polymorphism	-
Q9Y337	KLK5_HUMAN	55	G	R	Polymorphism	-
Q9Y337	KLK5_HUMAN	153	D	N	Polymorphism	-
Q9Y345	SC6A5_HUMAN	425	T	M	Disease	Hyperekplexia 3 (HKPX3) [MIM:614618]
Q9Y345	SC6A5_HUMAN	510	S	R	Disease	Hyperekplexia 3 (HKPX3) [MIM:614618]
Q9Y345	SC6A5_HUMAN	499	Y	F	Polymorphism	-
Q9Y345	SC6A5_HUMAN	491	Y	C	Disease	Hyperekplexia 3 (HKPX3) [MIM:614618]
Q9Y345	SC6A5_HUMAN	184	Q	R	Polymorphism	-
Q9Y345	SC6A5_HUMAN	132	A	G	Polymorphism	-
Q9Y345	SC6A5_HUMAN	457	K	N	Polymorphism	-
Q9Y345	SC6A5_HUMAN	482	W	C	Disease	Hyperekplexia 3 (HKPX3) [MIM:614618]
Q9Y345	SC6A5_HUMAN	89	A	E	Polymorphism	-
Q9Y345	SC6A5_HUMAN	751	V	A	Polymorphism	-
Q9Y345	SC6A5_HUMAN	124	F	S	Polymorphism	-
Q9Y345	SC6A5_HUMAN	306	L	V	Disease	Hyperekplexia 3 (HKPX3) [MIM:614618]
Q9Y345	SC6A5_HUMAN	767	G	R	Polymorphism	-
Q9Y345	SC6A5_HUMAN	632	V	E	Unclassified	A breast cancer sample
Q9Y345	SC6A5_HUMAN	463	D	N	Polymorphism	-
Q9Y345	SC6A5_HUMAN	102	G	S	Polymorphism	-
Q9Y345	SC6A5_HUMAN	509	N	S	Disease	Hyperekplexia 3 (HKPX3) [MIM:614618]
Q9Y345	SC6A5_HUMAN	162	A	G	Polymorphism	-
Q9Y366	IFT52_HUMAN	199	A	T	Disease	Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16) [MIM:617102]
Q9Y375	CIA30_HUMAN	314	A	G	Polymorphism	-
Q9Y375	CIA30_HUMAN	253	K	R	Disease	Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234]
Q9Y375	CIA30_HUMAN	31	R	L	Polymorphism	-
Q9Y375	CIA30_HUMAN	245	G	R	Disease	Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234]
Q9Y375	CIA30_HUMAN	176	E	K	Polymorphism	-
Q9Y375	CIA30_HUMAN	211	R	C	Disease	Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234]
Q9Y375	CIA30_HUMAN	207	T	P	Disease	Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234]
Q9Y375	CIA30_HUMAN	9	R	H	Polymorphism	-
Q9Y383	LC7L2_HUMAN	361	D	E	Polymorphism	-
Q9Y385	UB2J1_HUMAN	229	L	V	Polymorphism	-
Q9Y385	UB2J1_HUMAN	55	G	V	Polymorphism	-
Q9Y388	RBMX2_HUMAN	287	R	H	Polymorphism	-
Q9Y394	DHRS7_HUMAN	218	R	Q	Polymorphism	-
Q9Y397	ZDHC9_HUMAN	150	P	S	Disease	Mental retardation, X-linked, syndromic, ZDHHC9-related (MRXSZ) [MIM:300799]
Q9Y397	ZDHC9_HUMAN	148	R	W	Disease	Mental retardation, X-linked, syndromic, ZDHHC9-related (MRXSZ) [MIM:300799]
Q9Y399	RT02_HUMAN	158	M	V	Polymorphism	-
Q9Y399	RT02_HUMAN	110	R	C	Disease	Combined oxidative phosphorylation deficiency 36 (COXPD36) [MIM:617950]
Q9Y399	RT02_HUMAN	112	D	G	Polymorphism	-
Q9Y399	RT02_HUMAN	294	H	R	Polymorphism	-
Q9Y399	RT02_HUMAN	114	D	N	Disease	Combined oxidative phosphorylation deficiency 36 (COXPD36) [MIM:617950]
Q9Y399	RT02_HUMAN	138	R	H	Disease	Combined oxidative phosphorylation deficiency 36 (COXPD36) [MIM:617950]
Q9Y3A0	COQ4_HUMAN	52	L	S	Disease	Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276]
Q9Y3A0	COQ4_HUMAN	145	R	G	Disease	Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276]
Q9Y3A0	COQ4_HUMAN	240	R	C	Disease	Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276]
Q9Y3A0	COQ4_HUMAN	50	G	A	Polymorphism	-
Q9Y3A0	COQ4_HUMAN	64	P	S	Disease	Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276]
Q9Y3A0	COQ4_HUMAN	20	R	Q	Polymorphism	-
Q9Y3A4	RRP7A_HUMAN	88	V	I	Polymorphism	-
Q9Y3A4	RRP7A_HUMAN	85	V	I	Polymorphism	-
Q9Y3A4	RRP7A_HUMAN	75	L	M	Polymorphism	-
Q9Y3A5	SBDS_HUMAN	87	I	S	Unclassified	Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400]
Q9Y3A5	SBDS_HUMAN	169	R	C	Unclassified	Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400]
Q9Y3A5	SBDS_HUMAN	33	K	T	Disease	Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400]
Q9Y3A5	SBDS_HUMAN	44	E	G	Unclassified	Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400]
Q9Y3A5	SBDS_HUMAN	126	R	T	Disease	Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400]
Q9Y3A5	SBDS_HUMAN	212	I	T	Polymorphism	-
Q9Y3A5	SBDS_HUMAN	8	N	K	Unclassified	Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400]
Q9Y3A5	SBDS_HUMAN	67	K	E	Unclassified	Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400]
Q9Y3A6	TMED5_HUMAN	175	T	I	Polymorphism	-
Q9Y3B6	EMC9_HUMAN	97	A	V	Polymorphism	-
Q9Y3B9	RRP15_HUMAN	149	K	N	Polymorphism	-
Q9Y3B9	RRP15_HUMAN	32	A	V	Polymorphism	-
Q9Y3B9	RRP15_HUMAN	230	K	R	Polymorphism	-
Q9Y3C4	TPRKB_HUMAN	136	L	P	Disease	Galloway-Mowat syndrome 5 (GAMOS5) [MIM:617731]
Q9Y3C4	TPRKB_HUMAN	149	Y	C	Disease	Galloway-Mowat syndrome 5 (GAMOS5) [MIM:617731]
Q9Y3C5	RNF11_HUMAN	11	D	E	Polymorphism	-
Q9Y3C6	PPIL1_HUMAN	36	C	S	Polymorphism	-
Q9Y3C8	UFC1_HUMAN	90	Y	C	Polymorphism	-
Q9Y3C8	UFC1_HUMAN	106	T	I	Disease	Neurodevelopmental disorder with spasticity and poor growth (NEDSG) [MIM:618076]
Q9Y3C8	UFC1_HUMAN	23	R	Q	Disease	Neurodevelopmental disorder with spasticity and poor growth (NEDSG) [MIM:618076]
Q9Y3D2	MSRB2_HUMAN	46	E	G	Polymorphism	-
Q9Y3D3	RT16_HUMAN	12	Y	H	Polymorphism	-
Q9Y3D7	TIM16_HUMAN	76	N	D	Disease	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (SMDMDM) [MIM:613320]
Q9Y3D7	TIM16_HUMAN	114	Q	K	Polymorphism	-
Q9Y3D9	RT23_HUMAN	40	P	R	Disease	-
Q9Y3E2	BOLA1_HUMAN	98	G	A	Polymorphism	-
Q9Y3E5	PTH2_HUMAN	85	Q	P	Disease	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset (IMNEPD) [MIM:616263]
Q9Y3I0	RTCB_HUMAN	343	L	F	Polymorphism	-
Q9Y3I0	RTCB_HUMAN	153	V	A	Polymorphism	-
Q9Y3I1	FBX7_HUMAN	481	R	C	Polymorphism	-
Q9Y3I1	FBX7_HUMAN	378	R	G	Disease	Parkinson disease 15 (PARK15) [MIM:260300]
Q9Y3I1	FBX7_HUMAN	115	M	I	Polymorphism	-
Q9Y3L3	3BP1_HUMAN	511	P	L	Polymorphism	-
Q9Y3L3	3BP1_HUMAN	656	S	F	Polymorphism	-
Q9Y3M8	STA13_HUMAN	798	N	S	Polymorphism	-
Q9Y3M8	STA13_HUMAN	175	T	M	Polymorphism	-
Q9Y3M8	STA13_HUMAN	383	R	P	Polymorphism	-
Q9Y3M8	STA13_HUMAN	250	K	R	Polymorphism	-
Q9Y3M9	ZN337_HUMAN	467	R	G	Polymorphism	-
Q9Y3M9	ZN337_HUMAN	17	V	I	Polymorphism	-
Q9Y3N9	OR2W1_HUMAN	296	D	N	Polymorphism	-
Q9Y3N9	OR2W1_HUMAN	81	M	V	Polymorphism	-
Q9Y3P4	RHBD3_HUMAN	86	T	M	Polymorphism	-
Q9Y3P4	RHBD3_HUMAN	227	H	R	Polymorphism	-
Q9Y3Q0	NALD2_HUMAN	101	V	I	Polymorphism	-
Q9Y3Q0	NALD2_HUMAN	446	I	V	Polymorphism	-
Q9Y3Q3	TMED3_HUMAN	86	D	N	Polymorphism	-
Q9Y3Q4	HCN4_HUMAN	485	A	V	Disease	Sick sinus syndrome 2 (SSS2) [MIM:163800]
Q9Y3Q4	HCN4_HUMAN	553	D	N	Disease	Sick sinus syndrome 2 (SSS2) [MIM:163800]
Q9Y3Q4	HCN4_HUMAN	672	S	R	Disease	Sick sinus syndrome 2 (SSS2) [MIM:163800]
Q9Y3Q7	ADA18_HUMAN	362	M	K	Unclassified	A cutaneous metastatic melanoma sample
Q9Y3Q7	ADA18_HUMAN	212	V	F	Polymorphism	-
Q9Y3Q7	ADA18_HUMAN	344	M	I	Unclassified	A cutaneous metastatic melanoma sample
Q9Y3Q7	ADA18_HUMAN	536	S	L	Unclassified	A cutaneous metastatic melanoma sample
Q9Y3Q7	ADA18_HUMAN	284	V	G	Unclassified	A cutaneous metastatic melanoma sample
Q9Y3Q7	ADA18_HUMAN	170	P	S	Unclassified	A cutaneous metastatic melanoma sample
Q9Y3Q8	T22D4_HUMAN	329	V	M	Unclassified	A breast cancer sample
Q9Y3R0	GRIP1_HUMAN	322	A	T	Polymorphism	-
Q9Y3R4	NEUR2_HUMAN	145	A	T	Polymorphism	-
Q9Y3R4	NEUR2_HUMAN	182	R	Q	Polymorphism	-
Q9Y3R4	NEUR2_HUMAN	168	H	N	Polymorphism	-
Q9Y3R4	NEUR2_HUMAN	41	R	Q	Polymorphism	-
Q9Y3R4	NEUR2_HUMAN	11	S	R	Polymorphism	-
Q9Y3R5	DOP2_HUMAN	1118	C	G	Polymorphism	-
Q9Y3R5	DOP2_HUMAN	1149	P	H	Polymorphism	-
Q9Y3R5	DOP2_HUMAN	1217	R	S	Polymorphism	-
Q9Y3R5	DOP2_HUMAN	1021	S	W	Polymorphism	-
Q9Y3R5	DOP2_HUMAN	2139	G	E	Polymorphism	-
Q9Y3S1	WNK2_HUMAN	974	R	L	Polymorphism	-
Q9Y3S1	WNK2_HUMAN	828	V	M	Polymorphism	-
Q9Y3S2	ZN330_HUMAN	298	L	M	Polymorphism	-
Q9Y3S2	ZN330_HUMAN	28	T	A	Polymorphism	-
Q9Y3T6	R3HC1_HUMAN	363	L	R	Polymorphism	-
Q9Y3T6	R3HC1_HUMAN	307	V	M	Polymorphism	-
Q9Y3T6	R3HC1_HUMAN	145	R	K	Polymorphism	-
Q9Y3T6	R3HC1_HUMAN	96	A	T	Polymorphism	-
Q9Y3T9	NOC2L_HUMAN	556	S	L	Polymorphism	-
Q9Y3T9	NOC2L_HUMAN	300	I	V	Polymorphism	-
Q9Y3T9	NOC2L_HUMAN	271	A	V	Polymorphism	-
Q9Y3U8	RL36_HUMAN	67	K	E	Polymorphism	-
Q9Y3V2	RWDD3_HUMAN	47	V	A	Polymorphism	-
Q9Y3V2	RWDD3_HUMAN	86	N	K	Polymorphism	-
Q9Y3X0	CCDC9_HUMAN	456	A	V	Polymorphism	-
Q9Y3X0	CCDC9_HUMAN	478	L	P	Polymorphism	-
Q9Y3X0	CCDC9_HUMAN	215	E	D	Polymorphism	-
Q9Y3Y4	PYGO1_HUMAN	299	P	H	Polymorphism	-
Q9Y3Z3	SAMH1_HUMAN	143	R	H	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y3Z3	SAMH1_HUMAN	167	H	Y	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y3Z3	SAMH1_HUMAN	448	I	T	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y3Z3	SAMH1_HUMAN	254	M	V	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y3Z3	SAMH1_HUMAN	145	R	Q	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y3Z3	SAMH1_HUMAN	369	L	S	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y3Z3	SAMH1_HUMAN	201	I	N	Disease	Chilblain lupus 2 (CHBL2) [MIM:614415]
Q9Y3Z3	SAMH1_HUMAN	143	R	C	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y3Z3	SAMH1_HUMAN	385	M	V	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y3Z3	SAMH1_HUMAN	201	I	N	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y3Z3	SAMH1_HUMAN	290	R	H	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y3Z3	SAMH1_HUMAN	123	H	P	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y3Z3	SAMH1_HUMAN	209	G	S	Disease	Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]
Q9Y426	C2CD2_HUMAN	618	T	A	Polymorphism	-
Q9Y426	C2CD2_HUMAN	211	V	A	Polymorphism	-
Q9Y442	CV024_HUMAN	11	H	L	Polymorphism	-
Q9Y448	SKAP_HUMAN	24	S	F	Polymorphism	-
Q9Y448	SKAP_HUMAN	40	A	E	Polymorphism	-
Q9Y448	SKAP_HUMAN	92	P	S	Polymorphism	-
Q9Y448	SKAP_HUMAN	75	R	L	Polymorphism	-
Q9Y450	HBS1L_HUMAN	440	G	S	Polymorphism	-
Q9Y458	TBX22_HUMAN	307	D	N	Unclassified	A colorectal cancer sample
Q9Y458	TBX22_HUMAN	249	F	Y	Polymorphism	-
Q9Y458	TBX22_HUMAN	214	L	P	Disease	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]
Q9Y458	TBX22_HUMAN	121	M	V	Disease	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]
Q9Y458	TBX22_HUMAN	183	P	L	Disease	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]
Q9Y458	TBX22_HUMAN	264	N	Y	Disease	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]
Q9Y458	TBX22_HUMAN	118	G	C	Disease	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]
Q9Y458	TBX22_HUMAN	51	A	T	Unclassified	A colorectal cancer sample
Q9Y458	TBX22_HUMAN	187	E	K	Polymorphism	-
Q9Y458	TBX22_HUMAN	260	T	M	Disease	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]
Q9Y458	TBX22_HUMAN	16	V	A	Unclassified	A colorectal cancer sample
Q9Y462	ZN711_HUMAN	244	I	T	Disease	Mental retardation, X-linked 97 (MRX97) [MIM:300803]
Q9Y462	ZN711_HUMAN	524	M	T	Polymorphism	-
Q9Y462	ZN711_HUMAN	622	E	D	Unclassified	Mental retardation, X-linked 97 (MRX97) [MIM:300803]
Q9Y462	ZN711_HUMAN	601	N	S	Unclassified	Mental retardation, X-linked 97 (MRX97) [MIM:300803]
Q9Y462	ZN711_HUMAN	139	G	E	Unclassified	Mental retardation, X-linked 97 (MRX97) [MIM:300803]
Q9Y462	ZN711_HUMAN	274	H	R	Unclassified	Mental retardation, X-linked 97 (MRX97) [MIM:300803]
Q9Y462	ZN711_HUMAN	221	T	A	Polymorphism	-
Q9Y463	DYR1B_HUMAN	102	R	C	Disease	Abdominal obesity-metabolic syndrome 3 (AOMS3) [MIM:615812]
Q9Y463	DYR1B_HUMAN	234	S	G	Polymorphism	-
Q9Y463	DYR1B_HUMAN	28	L	P	Polymorphism	-
Q9Y463	DYR1B_HUMAN	275	Q	R	Unclassified	A metastatic melanoma sample
Q9Y463	DYR1B_HUMAN	90	H	P	Disease	Abdominal obesity-metabolic syndrome 3 (AOMS3) [MIM:615812]
Q9Y463	DYR1B_HUMAN	102	R	H	Polymorphism	-
Q9Y467	SALL2_HUMAN	75	S	C	Polymorphism	-
Q9Y467	SALL2_HUMAN	122	P	S	Polymorphism	-
Q9Y467	SALL2_HUMAN	746	G	R	Polymorphism	-
Q9Y468	LMBL1_HUMAN	547	I	M	Polymorphism	-
Q9Y468	LMBL1_HUMAN	117	S	T	Polymorphism	-
Q9Y473	ZN175_HUMAN	363	Y	N	Polymorphism	-
Q9Y473	ZN175_HUMAN	505	C	R	Polymorphism	-
Q9Y483	MTF2_HUMAN	140	S	C	Polymorphism	-
Q9Y484	WIPI4_HUMAN	208	A	D	Unclassified	Neurodegeneration with brain iron accumulation 5 (NBIA5) [MIM:300894]
Q9Y485	DMXL1_HUMAN	221	I	M	Polymorphism	-
Q9Y485	DMXL1_HUMAN	2067	V	M	Polymorphism	-
Q9Y485	DMXL1_HUMAN	851	S	N	Polymorphism	-
Q9Y485	DMXL1_HUMAN	2107	T	S	Polymorphism	-
Q9Y487	VPP2_HUMAN	685	R	Q	Polymorphism	-
Q9Y487	VPP2_HUMAN	813	A	V	Polymorphism	-
Q9Y490	TLN1_HUMAN	1984	A	T	Polymorphism	-
Q9Y490	TLN1_HUMAN	1227	S	L	Polymorphism	-
Q9Y490	TLN1_HUMAN	1919	R	W	Polymorphism	-
Q9Y493	ZAN_HUMAN	1969	F	L	Polymorphism	-
Q9Y493	ZAN_HUMAN	1995	I	M	Polymorphism	-
Q9Y493	ZAN_HUMAN	1096	F	C	Polymorphism	-
Q9Y493	ZAN_HUMAN	430	Q	H	Polymorphism	-
Q9Y493	ZAN_HUMAN	2527	T	M	Polymorphism	-
Q9Y493	ZAN_HUMAN	1742	C	R	Polymorphism	-
Q9Y493	ZAN_HUMAN	2643	W	R	Polymorphism	-
Q9Y493	ZAN_HUMAN	1922	H	C	Polymorphism	-
Q9Y493	ZAN_HUMAN	1698	L	P	Polymorphism	-
Q9Y493	ZAN_HUMAN	1903	C	Y	Polymorphism	-
Q9Y493	ZAN_HUMAN	1375	A	T	Polymorphism	-
Q9Y493	ZAN_HUMAN	1012	L	R	Polymorphism	-
Q9Y493	ZAN_HUMAN	1674	G	C	Polymorphism	-
Q9Y493	ZAN_HUMAN	16	L	F	Polymorphism	-
Q9Y493	ZAN_HUMAN	2073	N	S	Polymorphism	-
Q9Y493	ZAN_HUMAN	690	S	T	Polymorphism	-
Q9Y493	ZAN_HUMAN	2035	S	T	Polymorphism	-
Q9Y493	ZAN_HUMAN	412	G	S	Polymorphism	-
Q9Y493	ZAN_HUMAN	113	G	A	Polymorphism	-
Q9Y493	ZAN_HUMAN	2349	L	F	Polymorphism	-
Q9Y493	ZAN_HUMAN	1878	P	S	Polymorphism	-
Q9Y493	ZAN_HUMAN	2334	Y	S	Polymorphism	-
Q9Y493	ZAN_HUMAN	2111	L	P	Polymorphism	-
Q9Y496	KIF3A_HUMAN	172	K	I	Polymorphism	-
Q9Y4A5	TRRAP_HUMAN	1669	R	H	Unclassified	A colorectal adenocarcinoma sample
Q9Y4A5	TRRAP_HUMAN	2302	R	W	Unclassified	A colorectal adenocarcinoma sample
Q9Y4A5	TRRAP_HUMAN	2750	E	D	Polymorphism	-
Q9Y4A5	TRRAP_HUMAN	2433	S	G	Polymorphism	-
Q9Y4A5	TRRAP_HUMAN	893	R	C	Unclassified	An ovarian serous carcinoma sample
Q9Y4A5	TRRAP_HUMAN	2801	K	E	Polymorphism	-
Q9Y4A5	TRRAP_HUMAN	878	R	L	Polymorphism	-
Q9Y4A5	TRRAP_HUMAN	1925	A	V	Polymorphism	-
Q9Y4A5	TRRAP_HUMAN	1947	R	L	Unclassified	An ovarian mucinous carcinoma sample
Q9Y4A5	TRRAP_HUMAN	2931	T	M	Unclassified	A colorectal adenocarcinoma sample
Q9Y4A5	TRRAP_HUMAN	1932	P	L	Unclassified	A colorectal adenocarcinoma sample
Q9Y4A5	TRRAP_HUMAN	722	S	F	Polymorphism	-
Q9Y4A5	TRRAP_HUMAN	2690	P	L	Unclassified	A lung large cell carcinoma sample
Q9Y4A5	TRRAP_HUMAN	1070	S	G	Polymorphism	-
Q9Y4A5	TRRAP_HUMAN	1724	R	H	Unclassified	A gastric adenocarcinoma sample
Q9Y4A5	TRRAP_HUMAN	2139	W	G	Polymorphism	-
Q9Y4A8	NF2L3_HUMAN	441	V	E	Polymorphism	-
Q9Y4A9	O10H1_HUMAN	175	H	Q	Polymorphism	-
Q9Y4A9	O10H1_HUMAN	65	A	V	Polymorphism	-
Q9Y4A9	O10H1_HUMAN	16	G	R	Polymorphism	-
Q9Y4B4	ARIP4_HUMAN	1369	F	L	Polymorphism	-
Q9Y4B5	MTCL1_HUMAN	602	M	T	Polymorphism	-
Q9Y4B5	MTCL1_HUMAN	1097	G	S	Polymorphism	-
Q9Y4B5	MTCL1_HUMAN	1211	K	Q	Polymorphism	-
Q9Y4B5	MTCL1_HUMAN	898	D	G	Polymorphism	-
Q9Y4B5	MTCL1_HUMAN	861	Q	R	Polymorphism	-
Q9Y4B6	DCAF1_HUMAN	1031	L	P	Polymorphism	-
Q9Y4B6	DCAF1_HUMAN	378	L	F	Polymorphism	-
Q9Y4B6	DCAF1_HUMAN	267	N	D	Polymorphism	-
Q9Y4C1	KDM3A_HUMAN	212	I	V	Polymorphism	-
Q9Y4C1	KDM3A_HUMAN	710	V	E	Polymorphism	-
Q9Y4C1	KDM3A_HUMAN	447	S	P	Polymorphism	-
Q9Y4C1	KDM3A_HUMAN	187	D	H	Unclassified	A breast cancer sample
Q9Y4C1	KDM3A_HUMAN	194	E	K	Polymorphism	-
Q9Y4C4	MFHA1_HUMAN	892	L	P	Polymorphism	-
Q9Y4C4	MFHA1_HUMAN	163	L	V	Polymorphism	-
Q9Y4C8	RBM19_HUMAN	921	R	Q	Polymorphism	-
Q9Y4C8	RBM19_HUMAN	821	R	G	Polymorphism	-
Q9Y4C8	RBM19_HUMAN	665	T	A	Polymorphism	-
Q9Y4C8	RBM19_HUMAN	609	H	R	Polymorphism	-
Q9Y4C8	RBM19_HUMAN	623	I	T	Polymorphism	-
Q9Y4C8	RBM19_HUMAN	602	Q	E	Polymorphism	-
Q9Y4D2	DGLA_HUMAN	945	D	E	Polymorphism	-
Q9Y4D2	DGLA_HUMAN	889	P	L	Polymorphism	-
Q9Y4D2	DGLA_HUMAN	735	G	V	Polymorphism	-
Q9Y4D7	PLXD1_HUMAN	894	H	R	Polymorphism	-
Q9Y4D7	PLXD1_HUMAN	1412	L	V	Polymorphism	-
Q9Y4D7	PLXD1_HUMAN	870	M	V	Polymorphism	-
Q9Y4D7	PLXD1_HUMAN	1542	S	N	Polymorphism	-
Q9Y4D7	PLXD1_HUMAN	617	P	S	Polymorphism	-
Q9Y4F1	FARP1_HUMAN	714	R	L	Unclassified	A breast cancer sample
Q9Y4F1	FARP1_HUMAN	8	P	L	Polymorphism	-
Q9Y4F4	TGRM1_HUMAN	511	L	V	Polymorphism	-
Q9Y4F4	TGRM1_HUMAN	416	E	Q	Polymorphism	-
Q9Y4F9	RIPR2_HUMAN	868	R	Q	Polymorphism	-
Q9Y4F9	RIPR2_HUMAN	495	E	K	Polymorphism	-
Q9Y4F9	RIPR2_HUMAN	424	E	K	Polymorphism	-
Q9Y4F9	RIPR2_HUMAN	452	S	C	Polymorphism	-
Q9Y4F9	RIPR2_HUMAN	320	V	M	Polymorphism	-
Q9Y4F9	RIPR2_HUMAN	145	A	G	Polymorphism	-
Q9Y4F9	RIPR2_HUMAN	520	R	C	Polymorphism	-
Q9Y4G2	PKHM1_HUMAN	377	R	H	Polymorphism	-
Q9Y4G2	PKHM1_HUMAN	714	R	C	Unclassified	Osteopetrosis, autosomal dominant 3 (OPTA3) [MIM:618107]
Q9Y4G6	TLN2_HUMAN	2144	T	I	Polymorphism	-
Q9Y4G6	TLN2_HUMAN	1148	A	S	Polymorphism	-
Q9Y4G6	TLN2_HUMAN	2266	F	L	Polymorphism	-
Q9Y4G6	TLN2_HUMAN	339	S	L	Unclassified	-
Q9Y4G6	TLN2_HUMAN	1877	V	I	Polymorphism	-
Q9Y4G6	TLN2_HUMAN	340	V	A	Polymorphism	-
Q9Y4G6	TLN2_HUMAN	1148	A	T	Polymorphism	-
Q9Y4H2	IRS2_HUMAN	999	V	M	Polymorphism	-
Q9Y4H2	IRS2_HUMAN	789	H	Y	Polymorphism	-
Q9Y4H2	IRS2_HUMAN	882	G	A	Polymorphism	-
Q9Y4H2	IRS2_HUMAN	879	G	S	Polymorphism	-
Q9Y4H2	IRS2_HUMAN	1057	G	D	Polymorphism	-
Q9Y4I1	MYO5A_HUMAN	1246	R	C	Polymorphism	-
Q9Y4I1	MYO5A_HUMAN	627	M	T	Polymorphism	-
Q9Y4I1	MYO5A_HUMAN	1673	S	L	Polymorphism	-
Q9Y4I5	MTL5_HUMAN	223	C	R	Polymorphism	-
Q9Y4I5	MTL5_HUMAN	260	V	A	Polymorphism	-
Q9Y4J8	DTNA_HUMAN	121	P	L	Unclassified	Left ventricular non-compaction 1 (LVNC1) [MIM:604169]
Q9Y4J8	DTNA_HUMAN	180	A	E	Polymorphism	-
Q9Y4K0	LOXL2_HUMAN	570	M	L	Polymorphism	-
Q9Y4K0	LOXL2_HUMAN	359	S	W	Polymorphism	-
Q9Y4K1	CRBG1_HUMAN	1445	T	S	Polymorphism	-
Q9Y4K1	CRBG1_HUMAN	293	Q	P	Polymorphism	-
Q9Y4K1	CRBG1_HUMAN	267	G	D	Polymorphism	-
Q9Y4K1	CRBG1_HUMAN	1395	C	Y	Polymorphism	-
Q9Y4K1	CRBG1_HUMAN	491	C	R	Polymorphism	-
Q9Y4K1	CRBG1_HUMAN	1196	E	A	Polymorphism	-
Q9Y4K1	CRBG1_HUMAN	1096	L	V	Polymorphism	-
Q9Y4K4	M4K5_HUMAN	446	I	V	Polymorphism	-
Q9Y4K4	M4K5_HUMAN	407	P	L	Polymorphism	-
Q9Y4K4	M4K5_HUMAN	552	R	Q	Polymorphism	-
Q9Y4K4	M4K5_HUMAN	334	A	T	Polymorphism	-
Q9Y4K4	M4K5_HUMAN	473	K	N	Polymorphism	-
Q9Y4K4	M4K5_HUMAN	633	T	M	Polymorphism	-
Q9Y4K4	M4K5_HUMAN	41	H	Y	Polymorphism	-
Q9Y4L1	HYOU1_HUMAN	419	A	P	Unclassified	Immunodeficiency 59 and hypoglycemia (IMD59) [MIM:233600]
Q9Y4L1	HYOU1_HUMAN	231	Y	H	Unclassified	Immunodeficiency 59 and hypoglycemia (IMD59) [MIM:233600]
Q9Y4L5	RN115_HUMAN	194	G	R	Polymorphism	-
Q9Y4P1	ATG4B_HUMAN	354	L	Q	Polymorphism	-
Q9Y4P3	TBL2_HUMAN	345	V	I	Polymorphism	-
Q9Y4R7	TTLL3_HUMAN	502	M	R	Polymorphism	-
Q9Y4R7	TTLL3_HUMAN	174	E	K	Polymorphism	-
Q9Y4R7	TTLL3_HUMAN	454	G	S	Unclassified	A colorectal cancer sample
Q9Y4R7	TTLL3_HUMAN	476	M	I	Unclassified	A colorectal cancer sample
Q9Y4R7	TTLL3_HUMAN	689	A	T	Polymorphism	-
Q9Y4R7	TTLL3_HUMAN	418	N	H	Polymorphism	-
Q9Y4R8	TELO2_HUMAN	146	Q	R	Polymorphism	-
Q9Y4R8	TELO2_HUMAN	720	D	V	Disease	You-Hoover-Fong syndrome (YHFS) [MIM:616954]
Q9Y4R8	TELO2_HUMAN	7	E	G	Polymorphism	-
Q9Y4R8	TELO2_HUMAN	766	V	M	Disease	You-Hoover-Fong syndrome (YHFS) [MIM:616954]
Q9Y4R8	TELO2_HUMAN	367	C	F	Disease	You-Hoover-Fong syndrome (YHFS) [MIM:616954]
Q9Y4R8	TELO2_HUMAN	7	E	Q	Polymorphism	-
Q9Y4R8	TELO2_HUMAN	511	A	V	Polymorphism	-
Q9Y4R8	TELO2_HUMAN	260	P	L	Disease	You-Hoover-Fong syndrome (YHFS) [MIM:616954]
Q9Y4R8	TELO2_HUMAN	674	Q	R	Polymorphism	-
Q9Y4R8	TELO2_HUMAN	609	R	H	Disease	You-Hoover-Fong syndrome (YHFS) [MIM:616954]
Q9Y4U1	MMAC_HUMAN	116	L	P	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	27	Q	R	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	161	R	G	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	122	H	R	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	193	L	P	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	189	R	S	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	147	G	A	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	130	Y	H	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	147	G	D	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	156	G	D	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	271	S	G	Polymorphism	-
Q9Y4U1	MMAC_HUMAN	206	R	P	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	157	W	C	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	206	R	W	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4U1	MMAC_HUMAN	161	R	Q	Disease	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]
Q9Y4W2	LAS1L_HUMAN	415	R	W	Unclassified	Wilson-Turner X-linked mental retardation syndrome (WTS) [MIM:309585]
Q9Y4W2	LAS1L_HUMAN	269	A	G	Unclassified	Wilson-Turner X-linked mental retardation syndrome (WTS) [MIM:309585]
Q9Y4W2	LAS1L_HUMAN	170	R	C	Unclassified	A colorectal cancer sample
Q9Y4W6	AFG32_HUMAN	689	Y	H	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	702	R	Q	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	654	T	I	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	671	G	R	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	689	Y	N	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	666	M	V	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	666	M	R	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	621	L	V	Unclassified	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	666	M	T	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	432	N	T	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	616	Y	C	Disease	Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487]
Q9Y4W6	AFG32_HUMAN	671	G	E	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	691	E	K	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	700	E	K	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4W6	AFG32_HUMAN	694	A	E	Disease	Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
Q9Y4X0	AMMR1_HUMAN	177	G	D	Disease	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) [MIM:300990]
Q9Y4X1	UD2A1_HUMAN	75	R	K	Polymorphism	-
Q9Y4X1	UD2A1_HUMAN	391	V	I	Polymorphism	-
Q9Y4X1	UD2A1_HUMAN	308	G	R	Polymorphism	-
Q9Y4X3	CCL27_HUMAN	96	L	F	Polymorphism	-
Q9Y4X3	CCL27_HUMAN	78	I	V	Polymorphism	-
Q9Y4Z2	NGN3_HUMAN	93	R	L	Disease	Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370]
Q9Y4Z2	NGN3_HUMAN	107	R	S	Disease	Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370]
Q9Y4Z2	NGN3_HUMAN	199	F	S	Polymorphism	-
Q9Y512	SAM50_HUMAN	345	I	V	Polymorphism	-
Q9Y512	SAM50_HUMAN	110	D	G	Polymorphism	-
Q9Y520	PRC2C_HUMAN	343	N	K	Polymorphism	-
Q9Y520	PRC2C_HUMAN	2717	T	A	Polymorphism	-
Q9Y520	PRC2C_HUMAN	235	A	T	Polymorphism	-
Q9Y520	PRC2C_HUMAN	1885	A	T	Polymorphism	-
Q9Y520	PRC2C_HUMAN	1924	P	R	Polymorphism	-
Q9Y520	PRC2C_HUMAN	468	E	G	Polymorphism	-
Q9Y520	PRC2C_HUMAN	1771	P	S	Polymorphism	-
Q9Y520	PRC2C_HUMAN	906	A	T	Polymorphism	-
Q9Y520	PRC2C_HUMAN	1868	L	R	Polymorphism	-
Q9Y520	PRC2C_HUMAN	959	P	S	Polymorphism	-
Q9Y520	PRC2C_HUMAN	1624	S	C	Polymorphism	-
Q9Y543	HES2_HUMAN	139	P	S	Polymorphism	-
Q9Y561	LRP12_HUMAN	694	S	G	Polymorphism	-
Q9Y566	SHAN1_HUMAN	569	A	D	Unclassified	A colorectal cancer sample
Q9Y566	SHAN1_HUMAN	1504	V	A	Polymorphism	-
Q9Y566	SHAN1_HUMAN	6	A	V	Polymorphism	-
Q9Y566	SHAN1_HUMAN	2026	G	R	Unclassified	A colorectal cancer sample
Q9Y572	RIPK3_HUMAN	492	P	Q	Polymorphism	-
Q9Y572	RIPK3_HUMAN	300	T	M	Polymorphism	-
Q9Y572	RIPK3_HUMAN	260	E	V	Polymorphism	-
Q9Y573	IPP_HUMAN	264	K	R	Polymorphism	-
Q9Y574	ASB4_HUMAN	17	V	L	Polymorphism	-
Q9Y581	INSL6_HUMAN	80	F	L	Polymorphism	-
Q9Y585	OR1A2_HUMAN	293	W	C	Polymorphism	-
Q9Y585	OR1A2_HUMAN	244	L	F	Polymorphism	-
Q9Y585	OR1A2_HUMAN	260	R	C	Polymorphism	-
Q9Y585	OR1A2_HUMAN	256	G	C	Polymorphism	-
Q9Y586	MB212_HUMAN	51	R	H	Disease	Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]
Q9Y586	MB212_HUMAN	51	R	G	Disease	Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]
Q9Y586	MB212_HUMAN	51	R	C	Disease	Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]
Q9Y586	MB212_HUMAN	247	R	Q	Disease	Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]
Q9Y586	MB212_HUMAN	49	E	K	Disease	Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]
Q9Y592	CEP83_HUMAN	87	L	P	Disease	Nephronophthisis 18 (NPHP18) [MIM:615862]
Q9Y592	CEP83_HUMAN	511	R	P	Disease	Nephronophthisis 18 (NPHP18) [MIM:615862]
Q9Y592	CEP83_HUMAN	78	Q	R	Polymorphism	-
Q9Y597	KCTD3_HUMAN	9	F	V	Polymorphism	-
Q9Y5A7	NUB1_HUMAN	13	Q	R	Polymorphism	-
Q9Y5A9	YTHD2_HUMAN	217	T	S	Polymorphism	-
Q9Y5A9	YTHD2_HUMAN	454	P	S	Polymorphism	-
Q9Y5B0	CTDP1_HUMAN	755	L	S	Polymorphism	-
Q9Y5B0	CTDP1_HUMAN	340	T	M	Polymorphism	-
Q9Y5B0	CTDP1_HUMAN	282	S	F	Polymorphism	-
Q9Y5B0	CTDP1_HUMAN	519	P	H	Polymorphism	-
Q9Y5B6	PAXB1_HUMAN	538	R	C	Unclassified	-
Q9Y5C1	ANGL3_HUMAN	63	K	T	Polymorphism	-
Q9Y5C1	ANGL3_HUMAN	417	Y	C	Polymorphism	-
Q9Y5C1	ANGL3_HUMAN	173	N	S	Polymorphism	-
Q9Y5C1	ANGL3_HUMAN	292	S	P	Polymorphism	-
Q9Y5C1	ANGL3_HUMAN	164	L	F	Polymorphism	-
Q9Y5C1	ANGL3_HUMAN	375	E	K	Polymorphism	-
Q9Y5C1	ANGL3_HUMAN	127	L	F	Polymorphism	-
Q9Y5C1	ANGL3_HUMAN	259	M	T	Polymorphism	-
Q9Y5C1	ANGL3_HUMAN	91	E	G	Polymorphism	-
Q9Y5C1	ANGL3_HUMAN	288	R	Q	Polymorphism	-
Q9Y5C1	ANGL3_HUMAN	418	N	Y	Polymorphism	-
Q9Y5C1	ANGL3_HUMAN	344	Y	S	Polymorphism	-
Q9Y5E1	PCDB9_HUMAN	124	R	S	Polymorphism	-
Q9Y5E1	PCDB9_HUMAN	174	S	P	Polymorphism	-
Q9Y5E1	PCDB9_HUMAN	426	L	M	Polymorphism	-
Q9Y5E1	PCDB9_HUMAN	239	A	V	Polymorphism	-
Q9Y5E1	PCDB9_HUMAN	414	K	E	Polymorphism	-
Q9Y5E1	PCDB9_HUMAN	185	S	G	Polymorphism	-
Q9Y5E2	PCDB7_HUMAN	575	P	L	Polymorphism	-
Q9Y5E2	PCDB7_HUMAN	187	E	K	Polymorphism	-
Q9Y5E2	PCDB7_HUMAN	389	V	L	Polymorphism	-
Q9Y5E2	PCDB7_HUMAN	120	E	K	Polymorphism	-
Q9Y5E2	PCDB7_HUMAN	576	L	V	Polymorphism	-
Q9Y5E2	PCDB7_HUMAN	716	R	W	Polymorphism	-
Q9Y5E3	PCDB6_HUMAN	776	G	D	Polymorphism	-
Q9Y5E3	PCDB6_HUMAN	446	V	A	Polymorphism	-
Q9Y5E3	PCDB6_HUMAN	636	H	Q	Polymorphism	-
Q9Y5E3	PCDB6_HUMAN	747	Y	H	Polymorphism	-
Q9Y5E3	PCDB6_HUMAN	232	L	F	Polymorphism	-
Q9Y5E3	PCDB6_HUMAN	231	V	I	Polymorphism	-
Q9Y5E4	PCDB5_HUMAN	156	I	T	Polymorphism	-
Q9Y5E4	PCDB5_HUMAN	720	S	P	Polymorphism	-
Q9Y5E5	PCDB4_HUMAN	421	A	T	Polymorphism	-
Q9Y5E5	PCDB4_HUMAN	168	K	R	Polymorphism	-
Q9Y5E5	PCDB4_HUMAN	255	P	S	Polymorphism	-
Q9Y5E5	PCDB4_HUMAN	255	P	L	Polymorphism	-
Q9Y5E5	PCDB4_HUMAN	553	T	A	Polymorphism	-
Q9Y5E6	PCDB3_HUMAN	414	R	S	Polymorphism	-
Q9Y5E6	PCDB3_HUMAN	41	K	R	Polymorphism	-
Q9Y5E6	PCDB3_HUMAN	207	E	K	Polymorphism	-
Q9Y5E7	PCDB2_HUMAN	674	L	P	Polymorphism	-
Q9Y5E7	PCDB2_HUMAN	760	G	D	Polymorphism	-
Q9Y5E7	PCDB2_HUMAN	128	V	I	Polymorphism	-
Q9Y5E8	PCDBF_HUMAN	758	G	V	Unclassified	A breast cancer sample
Q9Y5E8	PCDBF_HUMAN	719	A	V	Unclassified	A breast cancer sample
Q9Y5E8	PCDBF_HUMAN	494	R	Q	Polymorphism	-
Q9Y5E8	PCDBF_HUMAN	474	S	R	Polymorphism	-
Q9Y5F0	PCDBD_HUMAN	471	R	G	Polymorphism	-
Q9Y5F1	PCDBC_HUMAN	763	K	E	Polymorphism	-
Q9Y5F1	PCDBC_HUMAN	420	T	I	Polymorphism	-
Q9Y5F2	PCDBB_HUMAN	4	Q	R	Polymorphism	-
Q9Y5F2	PCDBB_HUMAN	528	D	E	Polymorphism	-
Q9Y5F2	PCDBB_HUMAN	7	R	H	Polymorphism	-
Q9Y5F3	PCDB1_HUMAN	611	T	I	Polymorphism	-
Q9Y5F3	PCDB1_HUMAN	524	A	V	Polymorphism	-
Q9Y5F3	PCDB1_HUMAN	778	F	L	Polymorphism	-
Q9Y5F3	PCDB1_HUMAN	390	L	F	Polymorphism	-
Q9Y5F3	PCDB1_HUMAN	385	F	L	Polymorphism	-
Q9Y5F3	PCDB1_HUMAN	712	I	T	Polymorphism	-
Q9Y5F3	PCDB1_HUMAN	719	K	I	Polymorphism	-
Q9Y5F6	PCDGM_HUMAN	570	D	G	Polymorphism	-
Q9Y5F6	PCDGM_HUMAN	275	G	S	Polymorphism	-
Q9Y5F8	PCDGJ_HUMAN	405	V	L	Polymorphism	-
Q9Y5F9	PCDGI_HUMAN	775	S	A	Polymorphism	-
Q9Y5F9	PCDGI_HUMAN	684	P	S	Polymorphism	-
Q9Y5F9	PCDGI_HUMAN	722	A	T	Polymorphism	-
Q9Y5G0	PCDGH_HUMAN	188	G	S	Polymorphism	-
Q9Y5G1	PCDGF_HUMAN	28	A	V	Polymorphism	-
Q9Y5G1	PCDGF_HUMAN	389	N	K	Polymorphism	-
Q9Y5G1	PCDGF_HUMAN	20	F	Y	Polymorphism	-
Q9Y5G2	PCDGE_HUMAN	26	P	R	Polymorphism	-
Q9Y5G2	PCDGE_HUMAN	687	K	E	Polymorphism	-
Q9Y5G2	PCDGE_HUMAN	58	V	I	Polymorphism	-
Q9Y5G4	PCDG9_HUMAN	791	L	F	Polymorphism	-
Q9Y5G5	PCDG8_HUMAN	187	N	K	Polymorphism	-
Q9Y5G5	PCDG8_HUMAN	16	L	R	Polymorphism	-
Q9Y5G6	PCDG7_HUMAN	212	L	F	Polymorphism	-
Q9Y5G6	PCDG7_HUMAN	188	E	G	Polymorphism	-
Q9Y5G6	PCDG7_HUMAN	239	T	M	Polymorphism	-
Q9Y5G7	PCDG6_HUMAN	248	R	S	Polymorphism	-
Q9Y5G9	PCDG4_HUMAN	714	D	H	Polymorphism	-
Q9Y5G9	PCDG4_HUMAN	672	R	K	Polymorphism	-
Q9Y5G9	PCDG4_HUMAN	181	A	T	Polymorphism	-
Q9Y5H0	PCDG3_HUMAN	79	P	S	Polymorphism	-
Q9Y5H0	PCDG3_HUMAN	154	I	L	Polymorphism	-
Q9Y5H0	PCDG3_HUMAN	743	A	V	Polymorphism	-
Q9Y5H1	PCDG2_HUMAN	5	Q	R	Polymorphism	-
Q9Y5H2	PCDGB_HUMAN	104	F	L	Polymorphism	-
Q9Y5H3	PCDGA_HUMAN	796	S	P	Polymorphism	-
Q9Y5H3	PCDGA_HUMAN	89	I	V	Polymorphism	-
Q9Y5H4	PCDG1_HUMAN	152	V	I	Polymorphism	-
Q9Y5H4	PCDG1_HUMAN	282	H	Q	Polymorphism	-
Q9Y5H5	PCDA9_HUMAN	501	E	Q	Polymorphism	-
Q9Y5H5	PCDA9_HUMAN	28	S	R	Polymorphism	-
Q9Y5H5	PCDA9_HUMAN	138	K	R	Polymorphism	-
Q9Y5H5	PCDA9_HUMAN	64	F	L	Polymorphism	-
Q9Y5H5	PCDA9_HUMAN	430	G	R	Polymorphism	-
Q9Y5H5	PCDA9_HUMAN	336	L	V	Polymorphism	-
Q9Y5H5	PCDA9_HUMAN	764	K	Q	Polymorphism	-
Q9Y5H5	PCDA9_HUMAN	764	K	T	Polymorphism	-
Q9Y5H6	PCDA8_HUMAN	78	S	N	Polymorphism	-
Q9Y5H6	PCDA8_HUMAN	269	P	R	Polymorphism	-
Q9Y5H6	PCDA8_HUMAN	579	K	E	Polymorphism	-
Q9Y5H7	PCDA5_HUMAN	691	A	V	Polymorphism	-
Q9Y5H8	PCDA3_HUMAN	440	S	I	Polymorphism	-
Q9Y5H8	PCDA3_HUMAN	61	P	Q	Polymorphism	-
Q9Y5H8	PCDA3_HUMAN	289	I	T	Polymorphism	-
Q9Y5H8	PCDA3_HUMAN	759	C	Y	Polymorphism	-
Q9Y5H8	PCDA3_HUMAN	318	I	V	Polymorphism	-
Q9Y5H9	PCDA2_HUMAN	25	E	K	Polymorphism	-
Q9Y5H9	PCDA2_HUMAN	106	V	L	Polymorphism	-
Q9Y5H9	PCDA2_HUMAN	764	P	L	Polymorphism	-
Q9Y5I1	PCDAB_HUMAN	418	W	S	Polymorphism	-
Q9Y5I1	PCDAB_HUMAN	199	S	Y	Polymorphism	-
Q9Y5I2	PCDAA_HUMAN	585	V	G	Polymorphism	-
Q9Y5I2	PCDAA_HUMAN	639	T	A	Polymorphism	-
Q9Y5I2	PCDAA_HUMAN	439	S	R	Polymorphism	-
Q9Y5I3	PCDA1_HUMAN	759	C	F	Polymorphism	-
Q9Y5I3	PCDA1_HUMAN	360	R	G	Polymorphism	-
Q9Y5I3	PCDA1_HUMAN	732	Y	C	Polymorphism	-
Q9Y5I3	PCDA1_HUMAN	449	N	H	Polymorphism	-
Q9Y5I7	CLD16_HUMAN	232	F	C	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	198	G	D	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	209	A	T	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	235	S	P	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	145	L	P	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	151	L	P	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	141	H	D	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	198	G	A	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	149	R	L	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	151	L	W	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	239	G	R	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	235	S	F	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	216	R	T	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	233	G	D	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	71	M	R	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	151	L	F	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	191	G	R	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7	CLD16_HUMAN	167	L	P	Disease	Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5J5	PHLA3_HUMAN	28	R	Q	Polymorphism	-
Q9Y5J6	T10B_HUMAN	66	A	S	Polymorphism	-
Q9Y5J6	T10B_HUMAN	90	G	S	Polymorphism	-
Q9Y5K1	SPO11_HUMAN	36	T	A	Polymorphism	-
Q9Y5K1	SPO11_HUMAN	202	A	V	Polymorphism	-
Q9Y5K1	SPO11_HUMAN	211	R	W	Polymorphism	-
Q9Y5K1	SPO11_HUMAN	91	M	V	Polymorphism	-
Q9Y5K2	KLK4_HUMAN	197	H	Q	Polymorphism	-
Q9Y5K2	KLK4_HUMAN	22	S	A	Polymorphism	-
Q9Y5K2	KLK4_HUMAN	159	G	D	Polymorphism	-
Q9Y5K5	UCHL5_HUMAN	197	I	F	Polymorphism	-
Q9Y5K6	CD2AP_HUMAN	581	N	K	Polymorphism	-
Q9Y5L0	TNPO3_HUMAN	818	R	P	Disease	Muscular dystrophy, limb-girdle, autosomal dominant 2 (LGMDD2) [MIM:608423]
Q9Y5L3	ENTP2_HUMAN	103	A	V	Polymorphism	-
Q9Y5M8	SRPRB_HUMAN	9	V	L	Polymorphism	-
Q9Y5N1	HRH3_HUMAN	280	A	V	Unclassified	-
Q9Y5N5	N6MT1_HUMAN	34	D	N	Polymorphism	-
Q9Y5N5	N6MT1_HUMAN	166	R	K	Polymorphism	-
Q9Y5N5	N6MT1_HUMAN	146	R	K	Polymorphism	-
Q9Y5N6	ORC6_HUMAN	232	Y	S	Disease	Meier-Gorlin syndrome 3 (MGORS3) [MIM:613803]
Q9Y5N6	ORC6_HUMAN	32	R	W	Polymorphism	-
Q9Y5N6	ORC6_HUMAN	138	P	Q	Polymorphism	-
Q9Y5P0	O51B4_HUMAN	36	V	I	Polymorphism	-
Q9Y5P0	O51B4_HUMAN	147	M	T	Polymorphism	-
Q9Y5P1	O51B2_HUMAN	312	S	R	Polymorphism	-
Q9Y5P1	O51B2_HUMAN	120	C	R	Polymorphism	-
Q9Y5P1	O51B2_HUMAN	134	L	F	Polymorphism	-
Q9Y5P1	O51B2_HUMAN	209	C	S	Polymorphism	-
Q9Y5P1	O51B2_HUMAN	283	P	S	Polymorphism	-
Q9Y5P3	RAI2_HUMAN	342	A	P	Polymorphism	-
Q9Y5P3	RAI2_HUMAN	252	M	V	Polymorphism	-
Q9Y5P4	C43BP_HUMAN	243	G	R	Disease	Mental retardation, autosomal dominant 34 (MRD34) [MIM:616351]
Q9Y5P4	C43BP_HUMAN	138	S	C	Unclassified	-
Q9Y5P4	C43BP_HUMAN	132	S	L	Disease	Mental retardation, autosomal dominant 34 (MRD34) [MIM:616351]
Q9Y5P4	C43BP_HUMAN	599	K	R	Polymorphism	-
Q9Y5P6	GMPPB_HUMAN	334	D	N	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350]
Q9Y5P6	GMPPB_HUMAN	287	R	Q	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	340	G	R	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	22	P	S	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	287	R	Q	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) [MIM:615351]
Q9Y5P6	GMPPB_HUMAN	241	P	S	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	126	H	D	Polymorphism	-
Q9Y5P6	GMPPB_HUMAN	318	V	A	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	27	D	H	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	330	V	I	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	254	V	M	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	185	R	C	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) [MIM:615351]
Q9Y5P6	GMPPB_HUMAN	32	P	S	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	287	R	W	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	32	P	L	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) [MIM:615351]
Q9Y5P6	GMPPB_HUMAN	322	N	K	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	184	Q	R	Polymorphism	-
Q9Y5P6	GMPPB_HUMAN	132	S	C	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	219	I	T	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	357	R	H	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P6	GMPPB_HUMAN	293	R	W	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]
Q9Y5P8	P2R3B_HUMAN	163	D	E	Polymorphism	-
Q9Y5P8	P2R3B_HUMAN	519	A	V	Polymorphism	-
Q9Y5Q0	FADS3_HUMAN	216	N	K	Polymorphism	-
Q9Y5Q0	FADS3_HUMAN	192	K	N	Polymorphism	-
Q9Y5Q3	MAFB_HUMAN	54	S	L	Disease	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
Q9Y5Q3	MAFB_HUMAN	66	S	C	Disease	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
Q9Y5Q3	MAFB_HUMAN	71	P	L	Disease	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
Q9Y5Q3	MAFB_HUMAN	70	S	L	Disease	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
Q9Y5Q3	MAFB_HUMAN	69	S	L	Disease	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
Q9Y5Q3	MAFB_HUMAN	63	P	R	Disease	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
Q9Y5Q3	MAFB_HUMAN	62	T	P	Disease	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
Q9Y5Q3	MAFB_HUMAN	59	P	L	Disease	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
Q9Y5Q3	MAFB_HUMAN	71	P	S	Disease	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
Q9Y5Q3	MAFB_HUMAN	70	S	A	Disease	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
Q9Y5Q5	CORIN_HUMAN	444	D	G	Polymorphism	-
Q9Y5Q5	CORIN_HUMAN	472	S	G	Disease	Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595]
Q9Y5Q5	CORIN_HUMAN	317	K	E	Disease	Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595]
Q9Y5Q5	CORIN_HUMAN	525	H	R	Polymorphism	-
Q9Y5Q5	CORIN_HUMAN	13	C	Y	Polymorphism	-
Q9Y5Q6	INSL5_HUMAN	50	Q	L	Polymorphism	-
Q9Y5Q8	TF3C5_HUMAN	445	D	N	Polymorphism	-
Q9Y5Q9	TF3C3_HUMAN	70	N	S	Polymorphism	-
Q9Y5R2	MMP24_HUMAN	564	R	H	Polymorphism	-
Q9Y5R4	HEMK1_HUMAN	192	R	Q	Polymorphism	-
Q9Y5R4	HEMK1_HUMAN	200	H	Q	Polymorphism	-
Q9Y5R5	DMRT2_HUMAN	458	E	Q	Polymorphism	-
Q9Y5R5	DMRT2_HUMAN	381	A	P	Polymorphism	-
Q9Y5R6	DMRT1_HUMAN	281	R	S	Polymorphism	-
Q9Y5R6	DMRT1_HUMAN	295	P	L	Polymorphism	-
Q9Y5R6	DMRT1_HUMAN	45	S	T	Polymorphism	-
Q9Y5R6	DMRT1_HUMAN	221	Y	S	Polymorphism	-
Q9Y5R8	TPPC1_HUMAN	129	R	G	Unclassified	A melanoma
Q9Y5S1	TRPV2_HUMAN	764	N	S	Polymorphism	-
Q9Y5S1	TRPV2_HUMAN	17	G	A	Polymorphism	-
Q9Y5S2	MRCKB_HUMAN	1203	R	K	Polymorphism	-
Q9Y5S2	MRCKB_HUMAN	876	R	W	Unclassified	A colorectal adenocarcinoma sample
Q9Y5S2	MRCKB_HUMAN	671	R	Q	Polymorphism	-
Q9Y5S2	MRCKB_HUMAN	500	K	E	Unclassified	A breast infiltrating ductal carcinoma sample
Q9Y5S2	MRCKB_HUMAN	1077	I	V	Polymorphism	-
Q9Y5S2	MRCKB_HUMAN	555	R	Q	Polymorphism	-
Q9Y5S2	MRCKB_HUMAN	1633	S	Y	Polymorphism	-
Q9Y5S2	MRCKB_HUMAN	1315	E	K	Unclassified	A lung large cell carcinoma sample
Q9Y5S8	NOX1_HUMAN	378	R	K	Polymorphism	-
Q9Y5S8	NOX1_HUMAN	330	P	S	Unclassified	-
Q9Y5S8	NOX1_HUMAN	360	D	N	Unclassified	-
Q9Y5S8	NOX1_HUMAN	315	R	H	Polymorphism	-
Q9Y5T4	DJC15_HUMAN	35	R	G	Polymorphism	-
Q9Y5T5	UBP16_HUMAN	141	Q	H	Polymorphism	-
Q9Y5U2	TSSC4_HUMAN	124	R	Q	Polymorphism	-
Q9Y5U2	TSSC4_HUMAN	262	G	R	Polymorphism	-
Q9Y5U2	TSSC4_HUMAN	230	R	S	Polymorphism	-
Q9Y5U2	TSSC4_HUMAN	274	H	P	Polymorphism	-
Q9Y5U2	TSSC4_HUMAN	17	H	P	Polymorphism	-
Q9Y5U5	TNR18_HUMAN	43	T	R	Polymorphism	-
Q9Y5U5	TNR18_HUMAN	64	E	K	Polymorphism	-
Q9Y5U5	TNR18_HUMAN	83	D	N	Polymorphism	-
Q9Y5U5	TNR18_HUMAN	173	V	M	Polymorphism	-
Q9Y5U8	MPC1_HUMAN	36	L	I	Polymorphism	-
Q9Y5U8	MPC1_HUMAN	79	L	H	Disease	Mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741]
Q9Y5U8	MPC1_HUMAN	97	R	W	Disease	Mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741]
Q9Y5U9	IR3IP_HUMAN	21	V	G	Disease	Microcephaly, epilepsy, and diabetes syndrome (MEDS) [MIM:614231]
Q9Y5U9	IR3IP_HUMAN	78	L	P	Disease	Microcephaly, epilepsy, and diabetes syndrome (MEDS) [MIM:614231]
Q9Y5V3	MAGD1_HUMAN	238	L	M	Polymorphism	-
Q9Y5W3	KLF2_HUMAN	145	R	P	Polymorphism	-
Q9Y5W3	KLF2_HUMAN	104	L	P	Polymorphism	-
Q9Y5W8	SNX13_HUMAN	472	L	S	Polymorphism	-
Q9Y5X0	SNX10_HUMAN	51	R	P	Disease	Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085]
Q9Y5X0	SNX10_HUMAN	16	R	L	Disease	Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085]
Q9Y5X0	SNX10_HUMAN	32	Y	S	Disease	Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085]
Q9Y5X0	SNX10_HUMAN	187	S	I	Polymorphism	-
Q9Y5X0	SNX10_HUMAN	51	R	Q	Disease	Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085]
Q9Y5X2	SNX8_HUMAN	147	A	G	Unclassified	A colorectal cancer sample
Q9Y5X4	NR2E3_HUMAN	256	A	E	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	44	S	L	Polymorphism	-
Q9Y5X4	NR2E3_HUMAN	334	R	G	Unclassified	-
Q9Y5X4	NR2E3_HUMAN	76	R	Q	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	311	R	Q	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	76	R	W	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	232	V	I	Polymorphism	-
Q9Y5X4	NR2E3_HUMAN	407	M	K	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	97	R	H	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	353	L	V	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	163	M	T	Polymorphism	-
Q9Y5X4	NR2E3_HUMAN	234	W	S	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	263	L	P	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	287	G	S	Polymorphism	-
Q9Y5X4	NR2E3_HUMAN	104	R	W	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	324	K	R	Unclassified	-
Q9Y5X4	NR2E3_HUMAN	56	G	R	Disease	Retinitis pigmentosa 37 (RP37) [MIM:611131]
Q9Y5X4	NR2E3_HUMAN	385	R	P	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	121	E	K	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	140	E	G	Polymorphism	-
Q9Y5X4	NR2E3_HUMAN	88	G	V	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	336	L	P	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	309	R	G	Disease	Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y5X4	NR2E3_HUMAN	104	R	Q	Polymorphism	-
Q9Y5X4	NR2E3_HUMAN	302	V	I	Polymorphism	-
Q9Y5X9	LIPE_HUMAN	96	G	S	Polymorphism	-
Q9Y5X9	LIPE_HUMAN	111	T	I	Polymorphism	-
Q9Y5X9	LIPE_HUMAN	26	G	S	Polymorphism	-
Q9Y5X9	LIPE_HUMAN	312	R	H	Polymorphism	-
Q9Y5Y0	FLVC1_HUMAN	121	N	D	Disease	Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
Q9Y5Y0	FLVC1_HUMAN	221	P	S	Disease	-
Q9Y5Y0	FLVC1_HUMAN	52	A	P	Polymorphism	-
Q9Y5Y0	FLVC1_HUMAN	544	T	M	Polymorphism	-
Q9Y5Y0	FLVC1_HUMAN	241	A	T	Disease	Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
Q9Y5Y0	FLVC1_HUMAN	192	C	R	Disease	Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
Q9Y5Y0	FLVC1_HUMAN	493	G	R	Disease	Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
Q9Y5Y2	NUBP2_HUMAN	250	P	S	Polymorphism	-
Q9Y5Y2	NUBP2_HUMAN	200	T	A	Polymorphism	-
Q9Y5Y2	NUBP2_HUMAN	266	T	M	Polymorphism	-
Q9Y5Y3	GPR45_HUMAN	7	S	C	Unclassified	A breast cancer sample
Q9Y5Y3	GPR45_HUMAN	312	L	F	Polymorphism	-
Q9Y5Y4	PD2R2_HUMAN	204	V	A	Polymorphism	-
Q9Y5Y5	PEX16_HUMAN	331	Y	C	Disease	Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]
Q9Y5Y5	PEX16_HUMAN	116	V	I	Polymorphism	-
Q9Y5Y5	PEX16_HUMAN	103	V	M	Polymorphism	-
Q9Y5Y5	PEX16_HUMAN	254	V	L	Polymorphism	-
Q9Y5Y5	PEX16_HUMAN	289	P	T	Disease	Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]
Q9Y5Y6	ST14_HUMAN	827	G	R	Disease	Ichthyosis, congenital, autosomal recessive 11 (ARCI11) [MIM:602400]
Q9Y5Y6	ST14_HUMAN	285	M	I	Polymorphism	-
Q9Y5Y6	ST14_HUMAN	381	R	S	Polymorphism	-
Q9Y5Y7	LYVE1_HUMAN	116	W	R	Polymorphism	-
Q9Y5Y7	LYVE1_HUMAN	315	V	M	Polymorphism	-
Q9Y5Y7	LYVE1_HUMAN	214	T	I	Polymorphism	-
Q9Y5Y9	SCNAA_HUMAN	916	R	W	Polymorphism	-
Q9Y5Y9	SCNAA_HUMAN	1073	V	A	Polymorphism	-
Q9Y5Y9	SCNAA_HUMAN	1713	M	V	Polymorphism	-
Q9Y5Y9	SCNAA_HUMAN	509	S	P	Polymorphism	-
Q9Y5Y9	SCNAA_HUMAN	590	G	R	Polymorphism	-
Q9Y5Y9	SCNAA_HUMAN	1304	A	T	Disease	Episodic pain syndrome, familial, 2 (FEPS2) [MIM:615551]
Q9Y5Y9	SCNAA_HUMAN	1662	G	S	Polymorphism	-
Q9Y5Y9	SCNAA_HUMAN	554	L	P	Disease	Episodic pain syndrome, familial, 2 (FEPS2) [MIM:615551]
Q9Y5Y9	SCNAA_HUMAN	1523	C	Y	Polymorphism	-
Q9Y5Y9	SCNAA_HUMAN	1056	D	N	Polymorphism	-
Q9Y5Y9	SCNAA_HUMAN	940	Q	L	Polymorphism	-
Q9Y5Y9	SCNAA_HUMAN	1092	L	P	Polymorphism	-
Q9Y5Y9	SCNAA_HUMAN	939	P	L	Polymorphism	-
Q9Y5Z4	HEBP2_HUMAN	140	R	Q	Polymorphism	-
Q9Y5Z4	HEBP2_HUMAN	191	E	A	Polymorphism	-
Q9Y5Z7	HCFC2_HUMAN	46	A	S	Polymorphism	-
Q9Y5Z7	HCFC2_HUMAN	268	G	A	Polymorphism	-
Q9Y5Z9	UBIA1_HUMAN	175	T	I	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	97	A	T	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	177	G	R	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	98	G	S	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	240	D	N	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	119	R	G	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	186	G	R	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	236	D	E	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	118	D	G	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	121	L	F	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	122	V	E	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	122	V	G	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	188	L	H	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	75	S	F	Polymorphism	-
Q9Y5Z9	UBIA1_HUMAN	232	N	S	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	171	S	P	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	102	N	S	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	112	D	G	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	177	G	E	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y5Z9	UBIA1_HUMAN	112	D	N	Disease	Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]
Q9Y603	ETV7_HUMAN	212	P	L	Polymorphism	-
Q9Y603	ETV7_HUMAN	199	G	S	Polymorphism	-
Q9Y603	ETV7_HUMAN	86	A	T	Polymorphism	-
Q9Y603	ETV7_HUMAN	138	H	Y	Polymorphism	-
Q9Y603	ETV7_HUMAN	250	A	V	Polymorphism	-
Q9Y606	TRUA_HUMAN	133	D	N	Unclassified	A breast cancer sample
Q9Y606	TRUA_HUMAN	144	R	W	Disease	Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462]
Q9Y608	LRRF2_HUMAN	143	K	E	Polymorphism	-
Q9Y615	ACL7A_HUMAN	161	A	P	Polymorphism	-
Q9Y615	ACL7A_HUMAN	343	L	V	Polymorphism	-
Q9Y615	ACL7A_HUMAN	340	V	M	Polymorphism	-
Q9Y615	ACL7A_HUMAN	45	R	C	Polymorphism	-
Q9Y616	IRAK3_HUMAN	391	M	T	Polymorphism	-
Q9Y616	IRAK3_HUMAN	147	I	V	Polymorphism	-
Q9Y616	IRAK3_HUMAN	111	P	A	Polymorphism	-
Q9Y616	IRAK3_HUMAN	84	G	S	Polymorphism	-
Q9Y616	IRAK3_HUMAN	429	R	Q	Polymorphism	-
Q9Y616	IRAK3_HUMAN	171	I	V	Polymorphism	-
Q9Y616	IRAK3_HUMAN	288	S	L	Polymorphism	-
Q9Y616	IRAK3_HUMAN	57	H	R	Polymorphism	-
Q9Y616	IRAK3_HUMAN	270	I	V	Polymorphism	-
Q9Y616	IRAK3_HUMAN	269	G	S	Polymorphism	-
Q9Y616	IRAK3_HUMAN	482	D	N	Polymorphism	-
Q9Y616	IRAK3_HUMAN	134	V	M	Polymorphism	-
Q9Y616	IRAK3_HUMAN	22	P	L	Polymorphism	-
Q9Y616	IRAK3_HUMAN	384	R	Q	Polymorphism	-
Q9Y616	IRAK3_HUMAN	400	L	V	Polymorphism	-
Q9Y617	SERC_HUMAN	179	S	L	Disease	Neu-Laxova syndrome 2 (NLS2) [MIM:616038]
Q9Y617	SERC_HUMAN	99	A	V	Disease	Neu-Laxova syndrome 2 (NLS2) [MIM:616038]
Q9Y617	SERC_HUMAN	87	P	A	Polymorphism	-
Q9Y617	SERC_HUMAN	100	D	A	Disease	Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]
Q9Y618	NCOR2_HUMAN	781	G	E	Polymorphism	-
Q9Y618	NCOR2_HUMAN	2001	P	S	Polymorphism	-
Q9Y618	NCOR2_HUMAN	1699	A	T	Polymorphism	-
Q9Y619	ORNT1_HUMAN	272	T	I	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	216	G	S	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	70	A	L	Unclassified	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	273	M	K	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	27	G	R	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	188	F	L	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	113	G	C	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	190	G	D	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	275	R	Q	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	71	L	Q	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	126	P	R	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	254	I	L	Polymorphism	-
Q9Y619	ORNT1_HUMAN	283	L	F	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	37	M	R	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	27	G	E	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y619	ORNT1_HUMAN	180	E	K	Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
Q9Y620	RA54B_HUMAN	418	D	Y	Unclassified	A colon cancer sample
Q9Y620	RA54B_HUMAN	97	D	H	Polymorphism	-
Q9Y620	RA54B_HUMAN	593	N	S	Unclassified	A non-Hodgkin lymphoma sample
Q9Y620	RA54B_HUMAN	899	I	V	Polymorphism	-
Q9Y620	RA54B_HUMAN	833	G	E	Polymorphism	-
Q9Y620	RA54B_HUMAN	30	L	V	Polymorphism	-
Q9Y623	MYH4_HUMAN	1106	I	M	Polymorphism	-
Q9Y623	MYH4_HUMAN	1862	R	C	Polymorphism	-
Q9Y623	MYH4_HUMAN	883	T	M	Polymorphism	-
Q9Y623	MYH4_HUMAN	1911	K	E	Polymorphism	-
Q9Y623	MYH4_HUMAN	594	A	T	Polymorphism	-
Q9Y623	MYH4_HUMAN	1802	D	G	Polymorphism	-
Q9Y623	MYH4_HUMAN	1209	E	K	Polymorphism	-
Q9Y623	MYH4_HUMAN	1117	A	D	Polymorphism	-
Q9Y625	GPC6_HUMAN	412	V	M	Polymorphism	-
Q9Y646	CBPQ_HUMAN	138	S	N	Polymorphism	-
Q9Y651	SOX21_HUMAN	230	G	R	Polymorphism	-
Q9Y653	AGRG1_HUMAN	38	R	Q	Disease	Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
Q9Y653	AGRG1_HUMAN	88	Y	C	Disease	Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
Q9Y653	AGRG1_HUMAN	493	M	T	Polymorphism	-
Q9Y653	AGRG1_HUMAN	38	R	W	Disease	Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
Q9Y653	AGRG1_HUMAN	91	C	S	Disease	Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
Q9Y653	AGRG1_HUMAN	306	Q	H	Polymorphism	-
Q9Y653	AGRG1_HUMAN	565	R	W	Disease	Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
Q9Y653	AGRG1_HUMAN	349	W	S	Disease	Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
Q9Y653	AGRG1_HUMAN	281	S	R	Polymorphism	-
Q9Y653	AGRG1_HUMAN	527	P	L	Polymorphism	-
Q9Y653	AGRG1_HUMAN	346	C	S	Disease	Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
Q9Y653	AGRG1_HUMAN	640	L	R	Disease	Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
Q9Y653	AGRG1_HUMAN	496	E	K	Disease	Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
Q9Y657	SPIN1_HUMAN	221	A	P	Polymorphism	-
Q9Y661	HS3S4_HUMAN	136	Q	R	Polymorphism	-
Q9Y666	S12A7_HUMAN	408	A	T	Polymorphism	-
Q9Y672	ALG6_HUMAN	478	S	P	Disease	Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y672	ALG6_HUMAN	304	S	F	Polymorphism	-
Q9Y672	ALG6_HUMAN	131	Y	H	Disease	Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y672	ALG6_HUMAN	333	A	V	Disease	Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y672	ALG6_HUMAN	170	S	I	Disease	Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y672	ALG6_HUMAN	227	G	E	Disease	Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y672	ALG6_HUMAN	226	K	N	Polymorphism	-
Q9Y672	ALG6_HUMAN	308	S	R	Disease	Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y676	RT18B_HUMAN	230	P	A	Polymorphism	-
Q9Y678	COPG1_HUMAN	681	M	T	Polymorphism	-
Q9Y692	GMEB1_HUMAN	14	V	A	Polymorphism	-
Q9Y694	S22A7_HUMAN	303	R	K	Polymorphism	-
Q9Y694	S22A7_HUMAN	507	G	V	Polymorphism	-
Q9Y694	S22A7_HUMAN	327	R	W	Polymorphism	-
Q9Y698	CCG2_HUMAN	143	V	L	Disease	Mental retardation, autosomal dominant 10 (MRD10) [MIM:614256]
Q9Y6A1	POMT1_HUMAN	200	A	P	Disease	Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308]
Q9Y6A1	POMT1_HUMAN	76	G	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]
Q9Y6A1	POMT1_HUMAN	285	L	F	Polymorphism	-
Q9Y6A1	POMT1_HUMAN	207	G	V	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]
Q9Y6A1	POMT1_HUMAN	537	S	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]
Q9Y6A1	POMT1_HUMAN	327	V	I	Polymorphism	-
Q9Y6A1	POMT1_HUMAN	428	V	D	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]
Q9Y6A1	POMT1_HUMAN	669	A	T	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]
Q9Y6A1	POMT1_HUMAN	65	G	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]
Q9Y6A1	POMT1_HUMAN	251	Q	W	Polymorphism	-
Q9Y6A1	POMT1_HUMAN	105	R	H	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]
Q9Y6A1	POMT1_HUMAN	582	W	C	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]
Q9Y6A1	POMT1_HUMAN	590	Q	H	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]
Q9Y6A1	POMT1_HUMAN	251	Q	R	Polymorphism	-
Q9Y6A1	POMT1_HUMAN	522	R	K	Polymorphism	-
Q9Y6A1	POMT1_HUMAN	537	S	R	Disease	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]
Q9Y6A1	POMT1_HUMAN	105	R	C	Disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]
Q9Y6A1	POMT1_HUMAN	433	D	E	Polymorphism	-
Q9Y6A5	TACC3_HUMAN	275	C	Y	Polymorphism	-
Q9Y6A5	TACC3_HUMAN	143	E	K	Polymorphism	-
Q9Y6A5	TACC3_HUMAN	514	G	E	Polymorphism	-
Q9Y6A5	TACC3_HUMAN	287	G	S	Polymorphism	-
Q9Y6B6	SAR1B_HUMAN	137	D	N	Disease	Chylomicron retention disease (CMRD) [MIM:246700]
Q9Y6B6	SAR1B_HUMAN	179	S	R	Disease	Chylomicron retention disease (CMRD) [MIM:246700]
Q9Y6B6	SAR1B_HUMAN	11	G	D	Disease	Chylomicron retention disease (CMRD) [MIM:246700]
Q9Y6B6	SAR1B_HUMAN	75	D	G	Disease	Chylomicron retention disease (CMRD) [MIM:246700]
Q9Y6B6	SAR1B_HUMAN	37	G	R	Disease	Chylomicron retention disease (CMRD) [MIM:246700]
Q9Y6B7	AP4B1_HUMAN	480	L	S	Polymorphism	-
Q9Y6C2	EMIL1_HUMAN	149	R	Q	Polymorphism	-
Q9Y6C2	EMIL1_HUMAN	536	Q	R	Polymorphism	-
Q9Y6C2	EMIL1_HUMAN	903	E	K	Polymorphism	-
Q9Y6C2	EMIL1_HUMAN	22	A	T	Unclassified	-
Q9Y6C5	PTC2_HUMAN	995	V	M	Polymorphism	-
Q9Y6C5	PTC2_HUMAN	1121	I	M	Polymorphism	-
Q9Y6C5	PTC2_HUMAN	988	T	M	Polymorphism	-
Q9Y6C5	PTC2_HUMAN	1019	V	M	Polymorphism	-
Q9Y6C5	PTC2_HUMAN	719	R	Q	Unclassified	Basal cell nevus syndrome (BCNS) [MIM:109400]
Q9Y6C5	PTC2_HUMAN	346	E	Q	Polymorphism	-
Q9Y6C5	PTC2_HUMAN	622	H	Y	Polymorphism	-
Q9Y6C5	PTC2_HUMAN	493	E	K	Polymorphism	-
Q9Y6C9	MTCH2_HUMAN	68	R	S	Polymorphism	-
Q9Y6C9	MTCH2_HUMAN	290	P	A	Polymorphism	-
Q9Y6D0	SELK_HUMAN	50	R	S	Polymorphism	-
Q9Y6D5	BIG2_HUMAN	802	R	Q	Polymorphism	-
Q9Y6D5	BIG2_HUMAN	209	E	K	Unclassified	Periventricular nodular heterotopia 2 (PVNH2) [MIM:608097]
Q9Y6D5	BIG2_HUMAN	794	K	E	Unclassified	A breast cancer sample
Q9Y6D5	BIG2_HUMAN	527	A	V	Polymorphism	-
Q9Y6D6	BIG1_HUMAN	273	D	Y	Polymorphism	-
Q9Y6D6	BIG1_HUMAN	316	G	E	Unclassified	A colorectal cancer sample
Q9Y6D9	MD1L1_HUMAN	556	R	H	Unclassified	One individual with lung cancer
Q9Y6D9	MD1L1_HUMAN	29	S	L	Unclassified	A lymphoid cancer cell line
Q9Y6D9	MD1L1_HUMAN	556	R	C	Unclassified	A prostate cancer cell line
Q9Y6D9	MD1L1_HUMAN	360	R	Q	Unclassified	A prostate cancer cell line
Q9Y6D9	MD1L1_HUMAN	511	E	K	Polymorphism	-
Q9Y6D9	MD1L1_HUMAN	59	R	C	Unclassified	A prostate cancer cell line
Q9Y6D9	MD1L1_HUMAN	558	R	H	Unclassified	A cancer cell line
Q9Y6D9	MD1L1_HUMAN	299	T	A	Unclassified	Lung cancer cell line
Q9Y6D9	MD1L1_HUMAN	500	T	M	Polymorphism	-
Q9Y6D9	MD1L1_HUMAN	572	R	H	Unclassified	A cancer cell line
Q9Y6D9	MD1L1_HUMAN	160	N	S	Polymorphism	-
Q9Y6D9	MD1L1_HUMAN	516	E	K	Unclassified	A breast cancer cell line
Q9Y6D9	MD1L1_HUMAN	569	E	K	Unclassified	A breast cancer cell line
Q9Y6E0	STK24_HUMAN	414	A	V	Polymorphism	-
Q9Y6E0	STK24_HUMAN	426	L	I	Polymorphism	-
Q9Y6E2	BZW2_HUMAN	44	D	A	Polymorphism	-
Q9Y6F1	PARP3_HUMAN	100	R	H	Polymorphism	-
Q9Y6F1	PARP3_HUMAN	269	Q	R	Polymorphism	-
Q9Y6F1	PARP3_HUMAN	91	S	N	Polymorphism	-
Q9Y6F6	MRVI1_HUMAN	28	A	T	Polymorphism	-
Q9Y6F6	MRVI1_HUMAN	186	P	S	Polymorphism	-
Q9Y6F6	MRVI1_HUMAN	289	Q	H	Polymorphism	-
Q9Y6F6	MRVI1_HUMAN	11	I	V	Polymorphism	-
Q9Y6F6	MRVI1_HUMAN	70	A	T	Polymorphism	-
Q9Y6G1	TM14A_HUMAN	37	C	R	Polymorphism	-
Q9Y6G5	COMDA_HUMAN	128	I	S	Polymorphism	-
Q9Y6G9	DC1L1_HUMAN	277	Q	R	Polymorphism	-
Q9Y6G9	DC1L1_HUMAN	147	M	T	Polymorphism	-
Q9Y6H1	CHCH2_HUMAN	34	P	L	Polymorphism	-
Q9Y6H1	CHCH2_HUMAN	93	A	V	Polymorphism	-
Q9Y6H1	CHCH2_HUMAN	37	A	V	Polymorphism	-
Q9Y6H1	CHCH2_HUMAN	4	G	R	Polymorphism	-
Q9Y6H1	CHCH2_HUMAN	14	P	S	Polymorphism	-
Q9Y6H1	CHCH2_HUMAN	78	H	N	Polymorphism	-
Q9Y6H1	CHCH2_HUMAN	145	R	Q	Unclassified	Parkinson disease 22 (PARK22) [MIM:616710]
Q9Y6H1	CHCH2_HUMAN	61	T	I	Disease	Parkinson disease 22 (PARK22) [MIM:616710]
Q9Y6H1	CHCH2_HUMAN	49	A	V	Polymorphism	-
Q9Y6H1	CHCH2_HUMAN	2	P	L	Polymorphism	-
Q9Y6H3	ATP23_HUMAN	48	S	C	Polymorphism	-
Q9Y6H5	SNCAP_HUMAN	235	E	G	Polymorphism	-
Q9Y6H5	SNCAP_HUMAN	706	E	Q	Polymorphism	-
Q9Y6H5	SNCAP_HUMAN	621	R	C	Unclassified	-
Q9Y6H5	SNCAP_HUMAN	44	V	A	Polymorphism	-
Q9Y6H6	KCNE3_HUMAN	39	P	R	Polymorphism	-
Q9Y6H6	KCNE3_HUMAN	83	R	H	Unclassified	-
Q9Y6H6	KCNE3_HUMAN	99	R	H	Unclassified	-
Q9Y6H6	KCNE3_HUMAN	4	T	A	Polymorphism	-
Q9Y6H8	CXA3_HUMAN	48	E	G	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	11	L	S	Unclassified	-
Q9Y6H8	CXA3_HUMAN	44	V	M	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	47	D	N	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	59	P	L	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	45	W	S	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	33	R	L	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	87	T	M	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	299	L	M	Polymorphism	-
Q9Y6H8	CXA3_HUMAN	76	R	G	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	188	N	I	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	187	P	S	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	76	R	H	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	2	G	D	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	188	N	T	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	63	N	S	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	3	D	Y	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	187	P	L	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	143	G	E	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	32	F	L	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8	CXA3_HUMAN	28	V	M	Disease	Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6I4	UBP3_HUMAN	360	P	T	Polymorphism	-
Q9Y6I7	WSB1_HUMAN	16	L	S	Polymorphism	-
Q9Y6I8	PXMP4_HUMAN	204	V	I	Polymorphism	-
Q9Y6I9	TX264_HUMAN	292	G	E	Polymorphism	-
Q9Y6J0	CABIN_HUMAN	225	D	N	Polymorphism	-
Q9Y6J0	CABIN_HUMAN	921	Q	E	Polymorphism	-
Q9Y6J0	CABIN_HUMAN	517	S	R	Polymorphism	-
Q9Y6J0	CABIN_HUMAN	56	A	T	Polymorphism	-
Q9Y6J0	CABIN_HUMAN	853	R	Q	Polymorphism	-
Q9Y6J0	CABIN_HUMAN	660	R	S	Polymorphism	-
Q9Y6J3	SMA5O_HUMAN	85	K	N	Polymorphism	-
Q9Y6J6	KCNE2_HUMAN	57	I	T	Disease	Long QT syndrome 6 (LQT6) [MIM:613693]
Q9Y6J6	KCNE2_HUMAN	9	Q	E	Polymorphism	-
Q9Y6J6	KCNE2_HUMAN	27	R	H	Unclassified	Long QT syndrome 6 (LQT6) [MIM:613693]
Q9Y6J6	KCNE2_HUMAN	66	A	V	Polymorphism	-
Q9Y6J6	KCNE2_HUMAN	60	F	L	Disease	Long QT syndrome 6 (LQT6) [MIM:613693]
Q9Y6J6	KCNE2_HUMAN	77	R	W	Disease	Long QT syndrome 6 (LQT6) [MIM:613693]
Q9Y6J6	KCNE2_HUMAN	8	T	I	Polymorphism	-
Q9Y6J6	KCNE2_HUMAN	20	I	N	Unclassified	Long QT syndrome 6 (LQT6) [MIM:613693]
Q9Y6J6	KCNE2_HUMAN	77	R	Q	Unclassified	Long QT syndrome 6 (LQT6) [MIM:613693]
Q9Y6J6	KCNE2_HUMAN	65	V	M	Disease	Long QT syndrome 6 (LQT6) [MIM:613693]
Q9Y6J6	KCNE2_HUMAN	27	R	C	Disease	Atrial fibrillation, familial, 4 (ATFB4) [MIM:611493]
Q9Y6J6	KCNE2_HUMAN	65	V	L	Unclassified	Long QT syndrome 6 (LQT6) [MIM:613693]
Q9Y6J6	KCNE2_HUMAN	94	E	G	Unclassified	Long QT syndrome 6 (LQT6) [MIM:613693]
Q9Y6J6	KCNE2_HUMAN	14	V	I	Unclassified	Long QT syndrome 6 (LQT6) [MIM:613693]
Q9Y6J6	KCNE2_HUMAN	8	T	A	Polymorphism	-
Q9Y6J6	KCNE2_HUMAN	54	M	T	Disease	Long QT syndrome 6 (LQT6) [MIM:613693]
Q9Y6K1	DNM3A_HUMAN	548	M	K	Disease	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	882	R	P	Unclassified	A patient with chronic myelomonocytic leukemia
Q9Y6K1	DNM3A_HUMAN	771	R	Q	Unclassified	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	838	N	D	Disease	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	365	Y	C	Unclassified	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	902	F	S	Disease	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	904	P	L	Disease	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	529	D	N	Unclassified	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	699	G	D	Unclassified	A patient with chronic myelomonocytic leukemia
Q9Y6K1	DNM3A_HUMAN	749	R	C	Disease	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	778	V	G	Unclassified	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	700	P	L	Disease	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	310	I	N	Disease	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	882	R	C	Unclassified	A patient with chronic myelomonocytic leukemia
Q9Y6K1	DNM3A_HUMAN	549	C	R	Disease	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	882	R	H	Unclassified	A patient with chronic myelomonocytic leukemia
Q9Y6K1	DNM3A_HUMAN	648	L	P	Disease	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K1	DNM3A_HUMAN	532	G	S	Disease	Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]
Q9Y6K5	OAS3_HUMAN	18	R	K	Polymorphism	-
Q9Y6K5	OAS3_HUMAN	18	R	T	Polymorphism	-
Q9Y6K5	OAS3_HUMAN	18	R	M	Polymorphism	-
Q9Y6K5	OAS3_HUMAN	65	R	W	Polymorphism	-
Q9Y6K5	OAS3_HUMAN	378	R	K	Polymorphism	-
Q9Y6K5	OAS3_HUMAN	869	R	H	Polymorphism	-
Q9Y6K5	OAS3_HUMAN	381	S	R	Polymorphism	-
Q9Y6K8	KAD5_HUMAN	465	R	Q	Polymorphism	-
Q9Y6K9	NEMO_HUMAN	406	D	V	Disease	Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291]
Q9Y6K9	NEMO_HUMAN	113	D	N	Polymorphism	-
Q9Y6K9	NEMO_HUMAN	57	E	K	Disease	Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9	NEMO_HUMAN	123	R	W	Disease	Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9	NEMO_HUMAN	323	A	P	Disease	Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9	NEMO_HUMAN	413	H	Y	Disease	Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9	NEMO_HUMAN	407	M	V	Disease	Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9	NEMO_HUMAN	322	L	P	Disease	Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9	NEMO_HUMAN	417	C	R	Disease	Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291]
Q9Y6K9	NEMO_HUMAN	311	D	N	Disease	Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291]
Q9Y6K9	NEMO_HUMAN	288	A	G	Disease	Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291]
Q9Y6K9	NEMO_HUMAN	175	R	P	Disease	Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291]
Q9Y6K9	NEMO_HUMAN	314	A	P	Disease	Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9	NEMO_HUMAN	319	R	Q	Disease	Immunodeficiency 33 (IMD33) [MIM:300636]
Q9Y6K9	NEMO_HUMAN	183	Q	H	Disease	Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9	NEMO_HUMAN	417	C	Y	Disease	Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia (NEMOID) [MIM:300584]
Q9Y6K9	NEMO_HUMAN	153	L	R	Disease	Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291]
Q9Y6K9	NEMO_HUMAN	173	R	G	Disease	Recurrent isolated invasive pneumococcal disease 2 (IPD2) [MIM:300640]
Q9Y6K9	NEMO_HUMAN	170	L	P	Disease	Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9	NEMO_HUMAN	173	R	Q	Disease	Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9	NEMO_HUMAN	227	L	P	Disease	Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291]
Q9Y6K9	NEMO_HUMAN	315	E	A	Disease	Immunodeficiency 33 (IMD33) [MIM:300636]
Q9Y6K9	NEMO_HUMAN	417	C	F	Disease	Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291]
Q9Y6L6	SO1B1_HUMAN	155	P	T	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	130	N	D	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	152	R	K	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	643	L	F	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	488	G	A	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	241	D	N	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	73	F	L	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	353	I	T	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	655	D	G	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	82	V	A	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	462	D	G	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	193	L	R	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	174	V	A	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	245	I	V	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	156	E	G	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	432	N	D	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	667	E	G	Polymorphism	-
Q9Y6L6	SO1B1_HUMAN	151	N	S	Polymorphism	-
Q9Y6M0	TEST_HUMAN	264	R	Q	Polymorphism	-
Q9Y6M7	S4A7_HUMAN	326	E	K	Polymorphism	-
Q9Y6M9	NDUB9_HUMAN	146	P	S	Polymorphism	-
Q9Y6M9	NDUB9_HUMAN	64	L	P	Disease	Mitochondrial complex I deficiency, nuclear type 24 (MC1DN24) [MIM:618245]
Q9Y6N1	COX11_HUMAN	74	P	L	Polymorphism	-
Q9Y6N3	CLCA3_HUMAN	104	I	T	Polymorphism	-
Q9Y6N3	CLCA3_HUMAN	84	Y	T	Polymorphism	-
Q9Y6N5	SQOR_HUMAN	264	I	T	Polymorphism	-
Q9Y6N6	LAMC3_HUMAN	1082	S	G	Polymorphism	-
Q9Y6N6	LAMC3_HUMAN	544	E	G	Polymorphism	-
Q9Y6N6	LAMC3_HUMAN	350	G	R	Disease	Cortical malformations occipital (OCCM) [MIM:614115]
Q9Y6N6	LAMC3_HUMAN	770	R	G	Polymorphism	-
Q9Y6N6	LAMC3_HUMAN	1264	R	W	Polymorphism	-
Q9Y6N6	LAMC3_HUMAN	522	P	S	Polymorphism	-
Q9Y6N7	ROBO1_HUMAN	1055	S	N	Unclassified	A breast cancer sample
Q9Y6N7	ROBO1_HUMAN	336	V	A	Polymorphism	-
Q9Y6N7	ROBO1_HUMAN	1091	S	N	Polymorphism	-
Q9Y6N7	ROBO1_HUMAN	1533	E	D	Unclassified	A breast cancer sample
Q9Y6N8	CAD10_HUMAN	371	V	L	Unclassified	A breast cancer sample
Q9Y6N8	CAD10_HUMAN	413	S	F	Polymorphism	-
Q9Y6N9	USH1C_HUMAN	519	E	D	Polymorphism	-
Q9Y6P5	SESN1_HUMAN	44	L	I	Polymorphism	-
Q9Y6Q1	CAN6_HUMAN	358	G	R	Unclassified	A colorectal cancer sample
Q9Y6Q1	CAN6_HUMAN	518	T	I	Polymorphism	-
Q9Y6Q1	CAN6_HUMAN	277	V	L	Polymorphism	-
Q9Y6Q2	STON1_HUMAN	8	K	N	Polymorphism	-
Q9Y6Q2	STON1_HUMAN	544	Q	H	Polymorphism	-
Q9Y6Q2	STON1_HUMAN	607	Q	H	Polymorphism	-
Q9Y6Q2	STON1_HUMAN	127	R	T	Polymorphism	-
Q9Y6Q3	ZFP37_HUMAN	7	V	D	Polymorphism	-
Q9Y6Q6	TNR11_HUMAN	244	A	S	Disease	Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301]
Q9Y6Q6	TNR11_HUMAN	192	A	V	Polymorphism	-
Q9Y6Q6	TNR11_HUMAN	175	C	R	Disease	Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301]
Q9Y6Q6	TNR11_HUMAN	129	R	C	Disease	Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301]
Q9Y6Q6	TNR11_HUMAN	141	H	Y	Polymorphism	-
Q9Y6Q6	TNR11_HUMAN	53	G	R	Disease	Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301]
Q9Y6Q6	TNR11_HUMAN	170	R	G	Disease	Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301]
Q9Y6Q9	NCOA3_HUMAN	777	S	A	Polymorphism	-
Q9Y6Q9	NCOA3_HUMAN	586	Q	H	Polymorphism	-
Q9Y6Q9	NCOA3_HUMAN	220	R	I	Polymorphism	-
Q9Y6Q9	NCOA3_HUMAN	556	I	V	Polymorphism	-
Q9Y6Q9	NCOA3_HUMAN	460	G	R	Polymorphism	-
Q9Y6Q9	NCOA3_HUMAN	218	R	C	Polymorphism	-
Q9Y6Q9	NCOA3_HUMAN	1247	M	L	Polymorphism	-
Q9Y6Q9	NCOA3_HUMAN	369	L	F	Polymorphism	-
Q9Y6Q9	NCOA3_HUMAN	559	P	S	Polymorphism	-
Q9Y6Q9	NCOA3_HUMAN	1247	M	K	Polymorphism	-
Q9Y6R1	S4A4_HUMAN	925	R	C	Disease	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]
Q9Y6R1	S4A4_HUMAN	843	A	V	Disease	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]
Q9Y6R1	S4A4_HUMAN	554	R	H	Disease	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]
Q9Y6R1	S4A4_HUMAN	529	T	S	Disease	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]
Q9Y6R1	S4A4_HUMAN	342	R	S	Disease	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]
Q9Y6R1	S4A4_HUMAN	471	S	L	Disease	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]
Q9Y6R1	S4A4_HUMAN	530	G	R	Disease	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]
Q9Y6R1	S4A4_HUMAN	566	L	P	Disease	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]
Q9Y6R4	M3K4_HUMAN	1492	A	V	Polymorphism	-
Q9Y6R4	M3K4_HUMAN	335	V	I	Polymorphism	-
Q9Y6R4	M3K4_HUMAN	1413	E	Q	Unclassified	An ovarian serous carcinoma sample
Q9Y6R4	M3K4_HUMAN	584	Q	H	Polymorphism	-
Q9Y6R4	M3K4_HUMAN	157	R	H	Polymorphism	-
Q9Y6R4	M3K4_HUMAN	906	H	P	Polymorphism	-
Q9Y6R4	M3K4_HUMAN	566	R	H	Polymorphism	-
Q9Y6R4	M3K4_HUMAN	294	I	T	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	2814	V	A	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	929	G	R	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	4906	D	H	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	4015	V	A	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	2647	E	K	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	1445	H	D	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	3264	G	S	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	1617	M	V	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	5017	A	V	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	732	V	A	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	1436	P	L	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	4465	G	S	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	1616	G	V	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	1524	T	N	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	2646	E	D	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	1019	G	R	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	770	N	S	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	4095	G	D	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	971	V	M	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	3920	H	Q	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	2793	A	V	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	1340	V	L	Polymorphism	-
Q9Y6R7	FCGBP_HUMAN	2089	N	D	Polymorphism	-
Q9Y6S9	RPKL1_HUMAN	21	R	Q	Polymorphism	-
Q9Y6S9	RPKL1_HUMAN	332	R	W	Polymorphism	-
Q9Y6S9	RPKL1_HUMAN	121	P	L	Polymorphism	-
Q9Y6T7	DGKB_HUMAN	789	G	S	Polymorphism	-
Q9Y6U3	ADSV_HUMAN	443	A	P	Polymorphism	-
Q9Y6U3	ADSV_HUMAN	500	K	R	Polymorphism	-
Q9Y6U3	ADSV_HUMAN	455	F	L	Polymorphism	-
Q9Y6U3	ADSV_HUMAN	578	L	F	Polymorphism	-
Q9Y6U3	ADSV_HUMAN	61	H	R	Polymorphism	-
Q9Y6U7	RN215_HUMAN	322	A	T	Polymorphism	-
Q9Y6V0	PCLO_HUMAN	2671	T	P	Polymorphism	-
Q9Y6V0	PCLO_HUMAN	2804	A	T	Polymorphism	-
Q9Y6V7	DDX49_HUMAN	296	S	A	Polymorphism	-
Q9Y6V7	DDX49_HUMAN	413	R	W	Polymorphism	-
Q9Y6V7	DDX49_HUMAN	222	R	H	Polymorphism	-
Q9Y6X0	SETBP_HUMAN	1130	P	T	Polymorphism	-
Q9Y6X0	SETBP_HUMAN	854	S	A	Disease	Leukemia, acute myelogenous (AML) [MIM:601626]
Q9Y6X0	SETBP_HUMAN	870	G	S	Disease	Myelodysplastic syndrome (MDS) [MIM:614286]
Q9Y6X0	SETBP_HUMAN	231	V	L	Polymorphism	-
Q9Y6X0	SETBP_HUMAN	873	T	R	Disease	Myelodysplastic syndrome (MDS) [MIM:614286]
Q9Y6X0	SETBP_HUMAN	870	G	S	Disease	Leukemia, chronic myeloid, atypical (ACML) [MIM:608232]
Q9Y6X0	SETBP_HUMAN	1162	R	W	Unclassified	A colorectal cancer sample
Q9Y6X0	SETBP_HUMAN	868	D	N	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
Q9Y6X0	SETBP_HUMAN	870	G	S	Disease	Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]
Q9Y6X0	SETBP_HUMAN	870	G	S	Disease	Leukemia, acute myelogenous (AML) [MIM:601626]
Q9Y6X0	SETBP_HUMAN	868	D	Y	Unclassified	-
Q9Y6X0	SETBP_HUMAN	868	D	N	Disease	Leukemia, chronic myeloid, atypical (ACML) [MIM:608232]
Q9Y6X0	SETBP_HUMAN	871	I	T	Disease	Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]
Q9Y6X0	SETBP_HUMAN	880	D	E	Unclassified	-
Q9Y6X0	SETBP_HUMAN	880	D	A	Unclassified	-
Q9Y6X0	SETBP_HUMAN	868	D	A	Disease	Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]
Q9Y6X0	SETBP_HUMAN	858	E	K	Disease	Leukemia, chronic myeloid, atypical (ACML) [MIM:608232]
Q9Y6X0	SETBP_HUMAN	871	I	S	Disease	Leukemia, acute myelogenous (AML) [MIM:601626]
Q9Y6X0	SETBP_HUMAN	869	S	N	Disease	Myelodysplastic syndrome (MDS) [MIM:614286]
Q9Y6X0	SETBP_HUMAN	868	D	N	Disease	Myelodysplastic syndrome (MDS) [MIM:614286]
Q9Y6X0	SETBP_HUMAN	870	G	R	Disease	Leukemia, acute myelogenous (AML) [MIM:601626]
Q9Y6X0	SETBP_HUMAN	868	D	N	Disease	Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]
Q9Y6X0	SETBP_HUMAN	880	D	N	Unclassified	-
Q9Y6X0	SETBP_HUMAN	908	D	N	Polymorphism	-
Q9Y6X0	SETBP_HUMAN	1101	V	I	Polymorphism	-
Q9Y6X0	SETBP_HUMAN	870	G	D	Disease	Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]
Q9Y6X0	SETBP_HUMAN	871	I	T	Disease	Leukemia, chronic myeloid, atypical (ACML) [MIM:608232]
Q9Y6X0	SETBP_HUMAN	869	S	R	Unclassified	-
Q9Y6X0	SETBP_HUMAN	870	G	V	Unclassified	-
Q9Y6X0	SETBP_HUMAN	1321	R	H	Polymorphism	-
Q9Y6X0	SETBP_HUMAN	868	D	G	Unclassified	-
Q9Y6X0	SETBP_HUMAN	874	D	N	Unclassified	-
Q9Y6X0	SETBP_HUMAN	1377	V	L	Polymorphism	-
Q9Y6X2	PIAS3_HUMAN	390	S	C	Polymorphism	-
Q9Y6X5	ENPP4_HUMAN	439	S	A	Polymorphism	-
Q9Y6X5	ENPP4_HUMAN	255	I	V	Polymorphism	-
Q9Y6X5	ENPP4_HUMAN	144	H	Q	Polymorphism	-
Q9Y6X6	MYO16_HUMAN	831	P	A	Polymorphism	-
Q9Y6X6	MYO16_HUMAN	385	M	T	Polymorphism	-
Q9Y6X6	MYO16_HUMAN	181	D	E	Polymorphism	-
Q9Y6X6	MYO16_HUMAN	1168	L	H	Unclassified	-
Q9Y6X6	MYO16_HUMAN	1171	I	M	Polymorphism	-
Q9Y6X6	MYO16_HUMAN	339	V	I	Polymorphism	-
Q9Y6X8	ZHX2_HUMAN	649	R	K	Polymorphism	-
Q9Y6X8	ZHX2_HUMAN	779	G	S	Polymorphism	-
Q9Y6X8	ZHX2_HUMAN	357	V	M	Polymorphism	-
Q9Y6X9	MORC2_HUMAN	757	E	G	Polymorphism	-
Q9Y6X9	MORC2_HUMAN	424	T	R	Disease	-
Q9Y6X9	MORC2_HUMAN	466	D	H	Polymorphism	-
Q9Y6X9	MORC2_HUMAN	248	Y	C	Polymorphism	-
Q9Y6X9	MORC2_HUMAN	283	R	H	Polymorphism	-
Q9Y6X9	MORC2_HUMAN	236	E	G	Disease	Charcot-Marie-Tooth disease 2Z (CMT2Z) [MIM:616688]
Q9Y6X9	MORC2_HUMAN	585	R	C	Polymorphism	-
Q9Y6X9	MORC2_HUMAN	87	S	L	Disease	Charcot-Marie-Tooth disease 2Z (CMT2Z) [MIM:616688]
Q9Y6X9	MORC2_HUMAN	444	G	R	Unclassified	Charcot-Marie-Tooth disease 2Z (CMT2Z) [MIM:616688]
Q9Y6X9	MORC2_HUMAN	252	R	W	Disease	Charcot-Marie-Tooth disease 2Z (CMT2Z) [MIM:616688]
Q9Y6X9	MORC2_HUMAN	96	Q	E	Unclassified	Charcot-Marie-Tooth disease 2Z (CMT2Z) [MIM:616688]
Q9Y6Y1	CMTA1_HUMAN	1336	T	I	Polymorphism	-
Q9Y6Y1	CMTA1_HUMAN	1177	N	K	Polymorphism	-
Q9Y6Y1	CMTA1_HUMAN	1218	N	T	Polymorphism	-
Q9Y6Y8	S23IP_HUMAN	644	K	E	Polymorphism	-
Q9Y6Y9	LY96_HUMAN	56	R	G	Polymorphism	-
Q9Y6Y9	LY96_HUMAN	157	P	S	Polymorphism	-
Q9Y6Z4	KIAS1_HUMAN	24	C	R	Polymorphism	-
Q9Y6Z4	KIAS1_HUMAN	23	H	D	Polymorphism	-
Q9Y6Z4	KIAS1_HUMAN	57	Q	E	Polymorphism	-
Q9Y6Z7	COL10_HUMAN	176	C	W	Disease	3MC syndrome 3 (3MC3) [MIM:248340]