AiPD: Autoinhibited Protein Database

Q8WY21

Gene name	SORCS1 (SORCS)
Protein name	VPS10 domain-containing receptor SorCS1
Names	hSorCS
Species	Homo sapiens (Human)
KEGG Pathway	hsa:114815
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

73-161 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

73-161 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q8WY21

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8WY21-F1	Predicted				AlphaFoldDB

981 variants for Q8WY21

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1223589037 CA378267943	3	K>E		No	ClinGen gnomAD
CA378267932 rs1482754269	4	V>A		No	ClinGen TOPMed
CA378267923 rs1239308064	6	A>T		No	ClinGen TOPMed
rs1483678753 CA378267912	8	G>S		No	ClinGen TOPMed
rs1330811573 CA378267904	9	G>C		No	ClinGen gnomAD
CA5685508 rs752079893	9	G>D		No	ClinGen ExAC gnomAD
rs1442617559 CA378267897	10	S>C		No	ClinGen TOPMed
CA378267901 rs1412731839	10	S>T		No	ClinGen TOPMed
TCGA novel	11	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs534191872 CA5685507	11	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774952978 CA378267882	13	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	13	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA213511061 rs774952978	13	R>W		No	ClinGen TOPMed gnomAD
rs1364239221 CA378267867	15	S>R		No	ClinGen gnomAD
rs1360390999 CA378267851	18	L>F		No	ClinGen TOPMed
CA378267837 rs1381037724	20	G>A		No	ClinGen TOPMed
TCGA novel	20	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1298967625 CA378267826	22	G>E		No	ClinGen TOPMed
rs1194137254 CA378267827	22	G>W		No	ClinGen gnomAD
rs898197054 CA378267822	23	L>F		No	ClinGen TOPMed
rs898197054 CA213511058	23	L>V		No	ClinGen TOPMed
CA213511057 rs565045974	25	I>S		No	ClinGen Ensembl
rs1304706145 CA378267780	29	P>L		No	ClinGen TOPMed
CA378267781 rs1304706145	29	P>R		No	ClinGen TOPMed
TCGA novel	30	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378267764 rs1350937079	32	C>Y		No	ClinGen gnomAD
CA378267751 rs1311323644	34	G>C		No	ClinGen TOPMed gnomAD
CA213511055 rs1006535214	35	G>D		No	ClinGen gnomAD
rs1230955760 CA378267739	36	S>F		No	ClinGen TOPMed gnomAD
rs1230955760 CA378267737	36	S>Y		No	ClinGen TOPMed gnomAD
CA378267716 rs1278501522	39	P>R		No	ClinGen gnomAD
CA213511053 rs890884194	39	P>S		No	ClinGen TOPMed
TCGA novel	40	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378267683 rs1386485299	44	S>R		No	ClinGen gnomAD
rs1190215967 CA378267685	44	S>T		No	ClinGen TOPMed
CA378267670 rs1448722003	46	A>V		No	ClinGen TOPMed
CA5685503 rs200375127	48	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378267661 rs913066658	48	R>H		No	ClinGen TOPMed gnomAD
rs913066658 CA213511052	48	R>P		No	ClinGen TOPMed gnomAD
CA378267648 rs1174198077	50	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA378267643 rs1403512982	51	S>W		No	ClinGen TOPMed
COSM3414679 CA5685502 rs543241575	52	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA378267638 rs543241575	52	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378267641 rs1455480234	52	T>P		No	ClinGen gnomAD
rs1447262240 CA378267636	53	P>S		No	ClinGen TOPMed gnomAD
rs1447262240 CA378267635	53	P>T		No	ClinGen TOPMed gnomAD
CA378267627 rs1263449368	54	R>K		No	ClinGen gnomAD
rs760512606 CA5685500	56	F>L		No	ClinGen ExAC gnomAD
rs1364930823 CA378267608	57	S>A		No	ClinGen TOPMed
rs1429169711 CA378267598	58	H>Q		No	ClinGen TOPMed
CA5685499 rs773086088	59	Q>K		No	ClinGen ExAC TOPMed
rs767473805 CA5685498	60	G>E		No	ClinGen ExAC gnomAD
CA378267589 rs1235760593	60	G>R		No	ClinGen gnomAD
TCGA novel	62	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	62	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs935906514 CA213511049	62	P>S		No	ClinGen gnomAD
CA378267579 rs935906514	62	P>T		No	ClinGen gnomAD
CA5685497 rs761161542	64	R>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	65	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	65	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398317503 CA378267560	65	A>S		No	ClinGen gnomAD
rs925329341 CA213511048	65	A>V		No	ClinGen gnomAD
CA5685496 rs773924138	66	P>S		No	ClinGen ExAC gnomAD
rs1313256567 CA378267552	67	A>T		No	ClinGen gnomAD
CA5685495 rs371658557	68	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1331438009 CA378267537	69	P>R		No	ClinGen TOPMed
CA378267539 rs1399951615	69	P>S		No	ClinGen gnomAD
CA378267528 rs1475469602	71	P>S		No	ClinGen gnomAD
rs1590285630 CA378267522	72	L>F		No	ClinGen Ensembl
rs1190586452 CA378267518	73	V>I		No	ClinGen TOPMed gnomAD
rs1190586452 CA378267517	73	V>L		No	ClinGen TOPMed gnomAD
CA5685492 rs771395554	74	V>G		No	ClinGen ExAC TOPMed gnomAD
CA378267505 rs1262994826	75	R>C		No	ClinGen TOPMed gnomAD
CA213511047 rs985136833	75	R>H		No	ClinGen TOPMed gnomAD
CA378267499 rs1478059066	76	P>R		No	ClinGen TOPMed
CA378267501 rs747396768	76	P>S		No	ClinGen ExAC gnomAD
CA5685491 rs747396768	76	P>T		No	ClinGen ExAC gnomAD
rs778361835 CA5685490	77	L>V		No	ClinGen ExAC gnomAD
CA378267468 rs1217102585	81	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	82	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378267457 rs1416424089	83	G>A		No	ClinGen gnomAD
rs1293732697 CA378267460	83	G>R		No	ClinGen gnomAD
rs377667682 CA5685487	85	R>G		No	ClinGen ExAC gnomAD
CA5685485 rs754071767	85	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754071767 CA5685486	85	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766611344 CA5685484	86	A>V		No	ClinGen ExAC TOPMed gnomAD
CA378267437 rs1418089946	87	L>P		No	ClinGen gnomAD
CA378267417 rs1476402151	90	E>D		No	ClinGen gnomAD
rs750223082 CA5685482	91	R>P		No	ClinGen ExAC gnomAD
CA378267411 rs992204555	92	A>S		No	ClinGen gnomAD
CA213511045 rs992204555	92	A>T		No	ClinGen gnomAD
TCGA novel	93	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761794885 CA5685480	93	R>P		No	ClinGen ExAC gnomAD
rs761794885 CA378267406	93	R>Q		No	ClinGen ExAC gnomAD
rs367597399 CA5685481	93	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA378267404 rs1196801880	94	G>S		No	ClinGen gnomAD
TCGA novel	95	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774220457 CA5685479	97	A>T		No	ClinGen ExAC TOPMed gnomAD
rs374412857 CA5685478	99	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs762414671 CA378267363	100	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1281379916 CA378267365	100	A>S		No	ClinGen TOPMed
CA5685477 rs762414671	100	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5685476 rs144688396	101	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1590285093 CA378267358	101	V>G		No	ClinGen Ensembl
CA213511044 rs1025808553	102	A>V		No	ClinGen TOPMed gnomAD
CA5685474 rs532395005	104	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs769598640 CA5685475	104	R>S		No	ClinGen ExAC gnomAD
rs773702730 CA5685473	105	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1565126216 CA378267336	106	G>S		No	ClinGen Ensembl
CA378267327 rs1166660093	107	R>L		No	ClinGen gnomAD
TCGA novel	110	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs962974852 CA213511041	111	S>G		No	ClinGen Ensembl
CA378267301 CA378267302 rs779338363	111	S>R		No	ClinGen ExAC TOPMed gnomAD
rs755039220 CA378267299	112	G>*		No	ClinGen ExAC gnomAD
rs755039220 CA5685469	112	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378267291 rs1470826592	113	A>G		No	ClinGen gnomAD
rs1457379410 CA378267286	114	D>G		No	ClinGen gnomAD
CA5685467 rs547300944	114	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs756340025 CA5685466	118	A>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	119	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5685465 rs370680841	120	R>P		No	ClinGen ESP ExAC gnomAD
CA378267243 rs370680841	120	R>Q		No	ClinGen ESP ExAC gnomAD
CA213511039 rs1015401599	121	G>V		No	ClinGen TOPMed
CA5685464 CA213511038 rs79605277	122	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA213511037 rs1009935857	123	G>S		No	ClinGen Ensembl
rs1352520310 CA378267222	124	A>G		No	ClinGen gnomAD
rs1307026776 CA378267214	125	S>N		No	ClinGen gnomAD
rs1388922540 CA378267201	127	S>I		No	ClinGen TOPMed gnomAD
rs1371102003 CA378267193	128	P>R		No	ClinGen gnomAD
CA5685462 rs751488362	129	R>W		No	ClinGen ExAC TOPMed gnomAD
rs763958270 CA5685460	130	G>E		No	ClinGen ExAC gnomAD
rs1590284547 CA378267178	131	V>G		No	ClinGen Ensembl
CA378267173 rs1309540544	132	L>R		No	ClinGen Ensembl
CA5685459 rs762482841	133	R>G		No	ClinGen ExAC gnomAD
CA213511035 rs907115285	134	D>H		No	ClinGen TOPMed gnomAD
CA378267157 rs1401682816	135	G>R		No	ClinGen gnomAD
rs752272204 CA378267150	136	G>E		No	ClinGen ExAC gnomAD
CA5685458 rs752272204	136	G>V		No	ClinGen ExAC gnomAD
rs764900238 CA378267114	141	G>A		No	ClinGen ExAC TOPMed gnomAD
rs764900238 CA5685457	141	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1012904641 CA213511033	142	T>I		No	ClinGen TOPMed
rs1012904641 CA213511034	142	T>N		No	ClinGen TOPMed
rs776466208 CA378267108	143	R>P		No	ClinGen ExAC TOPMed gnomAD
rs776466208 CA5685455	143	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5685456 rs759262148	143	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs935811607 COSM537400 CA213511032	144	E>D	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1246373825 CA378267103	144	E>G		No	ClinGen gnomAD
CA378267105 rs1171491742	144	E>K		No	ClinGen TOPMed gnomAD
CA378267099 rs1590284251	145	R>G		No	ClinGen Ensembl
CA5685454 rs772461707	145	R>P		No	ClinGen ExAC gnomAD
CA378267091 rs1283537114	146	D>E		No	ClinGen gnomAD
rs1590284201 CA378267093	146	D>G		No	ClinGen Ensembl
CA5685453 rs774883124	146	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5685452 rs774883124	146	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs199953078 CA213511031	147	P>A		No	ClinGen TOPMed
CA378267081 rs1465253145	148	D>G		No	ClinGen gnomAD
rs769049738 CA5685451	148	D>N		No	ClinGen ExAC gnomAD
CA378267082 rs1465253145	148	D>V		No	ClinGen gnomAD
rs769049738 CA378267083	148	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5685450 rs749306103	150	A>G		No	ClinGen ExAC gnomAD
CA5685449 rs780091835	154	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1432374541 CA378267035	155	M>I		No	ClinGen gnomAD
rs746058450 CA5685447	155	M>V		No	ClinGen ExAC TOPMed gnomAD
CA378267031 rs1362920176	156	E>K		No	ClinGen gnomAD
rs1162187575 CA378267019	157	E>V		No	ClinGen TOPMed
rs781314932 CA5685446	158	L>V		No	ClinGen ExAC gnomAD
rs1044283172 CA213511029	162	S>R		No	ClinGen Ensembl
rs751339716 CA5685444	163	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5685443 rs777696171	163	T>I		No	ClinGen ExAC TOPMed gnomAD
CA378266985 rs777696171	163	T>N		No	ClinGen ExAC TOPMed gnomAD
CA378266980 rs1431529422	164	T>K		No	ClinGen TOPMed gnomAD
rs1431529422 CA378266979	164	T>R		No	ClinGen TOPMed gnomAD
rs758400528 CA5685442	166	A>T		No	ClinGen ExAC gnomAD
TCGA novel	166	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs118055903 CA5685440 COSM3769073	168	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs201804328 CA5685439	169	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	169	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1260838228 CA378266941	171	S>A		No	ClinGen gnomAD
rs753492206 CA5685438	172	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	173	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1257721116 CA378266917	174	N>T		No	ClinGen gnomAD
rs762172366 CA5685436	175	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	176	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378266896 rs1340843391	177	M>I		No	ClinGen TOPMed
CA5685435 rs774591203	177	M>T		No	ClinGen ExAC gnomAD
CA5685432 COSM1504050 rs763446272	180	W>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5685433 rs769120957	180	W>R		No	ClinGen ExAC gnomAD
rs1266573964 CA378266863	182	G>D		No	ClinGen TOPMed gnomAD
rs776015562 CA5685431	183	H>P		No	ClinGen ExAC TOPMed gnomAD
rs776015562 CA378266857	183	H>R		No	ClinGen ExAC TOPMed gnomAD
rs531620465 CA213511026	183	H>Y		No	ClinGen TOPMed gnomAD
CA378266848 rs1358725612	184	N>K		No	ClinGen gnomAD
CA5685430 rs769838476	184	N>S		No	ClinGen ExAC gnomAD
CA378266836 rs1565125364	186	S>N		No	ClinGen Ensembl
TCGA novel	188	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1489251831 CA378263782	194	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	194	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1489251831 CA378263783	194	L>V		No	ClinGen TOPMed gnomAD
rs1267658361 CA378263773	195	Y>C		No	ClinGen gnomAD
rs1321457682 CA378263745	197	Y>C		No	ClinGen gnomAD
rs1310657644 CA378263688	202	I>N		No	ClinGen gnomAD
rs1037719106 CA213485599	204	E>Q		No	ClinGen TOPMed
rs758718098 CA5685396	205	S>C		No	ClinGen ExAC gnomAD
CA378263653 rs758718098	205	S>R		No	ClinGen ExAC gnomAD
CA378263610 rs1394574487	209	R>T		No	ClinGen gnomAD
rs1452483240 CA378263172	211	T>A		No	ClinGen TOPMed
TCGA novel	211	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1007730297 CA213470425	212	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	214	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1264407586 CA378263140	215	T>K		No	ClinGen gnomAD
TCGA novel	215	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA213470424 rs369405712	216	T>N		No	ClinGen ESP
CA378263130 rs1364742907	217	Y>C		No	ClinGen TOPMed
rs200929353 COSM315502 CA5685374	220	L>M	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs200929353 CA5685373	220	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5685372 rs766941489	221	N>S		No	ClinGen ExAC TOPMed gnomAD
VAR_036374	223	K>N	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA5685371 rs760606135	224	V>F		No	ClinGen ExAC
rs1254323975 CA378263067	226	L>F		No	ClinGen gnomAD
TCGA novel	227	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	227	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378263057 rs1232888983	228	T>A		No	ClinGen gnomAD
CA378263040 rs1279906146	230	L>F		No	ClinGen gnomAD
CA378263038 rs1224970717	231	S>C		No	ClinGen TOPMed
CA5685369 rs767766578	231	S>N		No	ClinGen ExAC gnomAD
CA5685368 rs201223592	232	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1339545491 CA378263031	232	Y>N		No	ClinGen gnomAD
rs201223592 CA378263028	232	Y>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	233	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774753201 CA378263014	234	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5685367 rs774753201	234	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1564707314 CA378262995	237	P>S		No	ClinGen Ensembl
rs1399520481 CA378262990	238	T>A		No	ClinGen TOPMed gnomAD
rs776510249 CA5685365	239	N>S		No	ClinGen ExAC TOPMed gnomAD
rs997286998 CA213470423	240	K>R		No	ClinGen Ensembl
rs143039834 CA5685364	241	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5685363 rs148756974	241	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148756974 CA378262969	241	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378143180 rs1458282597	244	M>V		No	ClinGen gnomAD
CA5685351 rs767672541	248	D>E		No	ClinGen ExAC gnomAD
CA5685349 rs375163054	249	P>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs375163054 CA5685350	249	P>Q		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1197059994 CA378143108	249	P>T		No	ClinGen gnomAD
CA378143089 rs1204965466	250	E>A		No	ClinGen TOPMed
rs762583882 CA5685347	251	I>T		No	ClinGen ExAC gnomAD
CA378143049 rs1250055373	253	S>N		No	ClinGen TOPMed
rs1007391231 CA213160249	255	L>S		No	ClinGen Ensembl
TCGA novel	260	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	261	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	262	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378142912 rs1314948216	263	A>T		No	ClinGen gnomAD
CA378142890 rs1378557016	266	Q>E		No	ClinGen gnomAD
CA378142889 rs1188191747	266	Q>R		No	ClinGen TOPMed
CA5685342 rs770382149	269	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs199611713 CA213160230 COSM914675	269	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5685341 rs146650584	271	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs200056666 CA5685340	273	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA378142793 rs998650004	274	I>L		No	ClinGen TOPMed
CA213160200 rs998650004	274	I>V		No	ClinGen TOPMed
rs142799463 CA5685338	278	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA213160188 rs867703634	279	F>V		No	ClinGen Ensembl
TCGA novel	281	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5685336 rs756474010	282	K>E		No	ClinGen ExAC gnomAD
rs746354266 CA5685335	282	K>R		No	ClinGen ExAC gnomAD
CA378142641 rs1223976567	283	Q>K		No	ClinGen gnomAD
rs1449656015 CA378142630	283	Q>L		No	ClinGen gnomAD
rs150153899 CA5685333	286	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	288	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866267889 CA213160134	290	Y>H		No	ClinGen Ensembl
CA5685332 rs751690117	290	Y>S		No	ClinGen ExAC gnomAD
rs1361067691 CA378142462	291	S>I		No	ClinGen gnomAD
rs1367641473 CA378142449	292	Q>P		No	ClinGen gnomAD
CA5685331 rs764161146	293	D>N		No	ClinGen ExAC gnomAD
rs758629358 CA378142370	295	K>N		No	ClinGen ExAC TOPMed gnomAD
CA378141123 rs1589822598	296	L>S		No	ClinGen Ensembl
CA378141126 rs1260690295	296	L>V		No	ClinGen gnomAD
rs1185927673 CA378141119	297	Y>H		No	ClinGen gnomAD
CA378141111 rs1285981841	298	S>G		No	ClinGen gnomAD
CA378141105 rs1245656950	298	S>R		No	ClinGen gnomAD
COSM1504056 rs1238754962 CA378141090	301	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA378141068 rs761249711	302	F>C		No	ClinGen ExAC TOPMed gnomAD
CA5685304 rs761249711	302	F>S		No	ClinGen ExAC TOPMed gnomAD
rs780612546 CA5685303	307	Q>K		No	ClinGen ExAC gnomAD
rs768427500 CA5685302	308	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5685301 rs759918632	309	I>M		No	ClinGen ExAC TOPMed gnomAD
rs371286552 CA5685300	310	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	310	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355028758 CA378140886	311	E>Q		No	ClinGen TOPMed gnomAD
CA5685299 rs771485532	312	G>E		No	ClinGen ExAC TOPMed gnomAD
CA378140866 rs1382200269	312	G>R		No	ClinGen gnomAD
TCGA novel	312	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5685298 rs747517715	315	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs559651041 CA213147892	319	Y>F		No	ClinGen gnomAD
rs773703545 CA5685280 COSM537412	320	W>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs772470615 CA5685279 COSM1560979	321	S>F	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201908999 CA5685278	322	V>E		No	ClinGen ExAC TOPMed gnomAD
rs778963439 CA5685277	323	M>V		No	ClinGen ExAC gnomAD
rs780274659 CA378149279	330	D>E		No	ClinGen ExAC gnomAD
rs749493250 CA5685275	330	D>N		No	ClinGen ExAC gnomAD
CA5685272 rs750185980	333	H>Y		No	ClinGen ExAC gnomAD
CA378149239 rs1310130307	337	R>G		No	ClinGen gnomAD
CA213182093 rs371784199	338	T>A		No	ClinGen ESP TOPMed gnomAD
CA213182088 rs1016176748	339	V>A		No	ClinGen TOPMed
rs190294057	341	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs763665104 CA5685268	341	G>D		No	ClinGen ExAC gnomAD
rs34595034 CA5685269	341	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM914667 rs576574267 CA5685266	342	H>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA5685241 rs145504188	344	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5685240 rs752270204	346	L>Q		No	ClinGen ExAC gnomAD
rs1375606057 CA378146631	347	T>A		No	ClinGen gnomAD
rs764898299 CA5685239	347	T>S		No	ClinGen ExAC gnomAD
TCGA novel	348	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1480316116 CA378146618	349	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA378146617 rs754583351	349	R>L		No	ClinGen ExAC TOPMed gnomAD
CA213163038 rs754583351	349	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM3665483 CA5685238 rs754583351	349	R>Q	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1342524921 TCGA novel CA378146611	350	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs771998165 CA5685237	350	M>L		No	ClinGen ExAC TOPMed gnomAD
COSM683365 rs1589710592 CA378146572	355	E>D	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	357	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA213163034 rs1034514809	357	N>S		No	ClinGen TOPMed gnomAD
COSM914665 CA5685236 rs767755362	358	R>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1000358553 CA213163024	359	N>T		No	ClinGen TOPMed gnomAD
rs904701817 CA213163017	362	F>L		No	ClinGen TOPMed
rs762264195 CA5685235	363	P>L		No	ClinGen ExAC gnomAD
CA378146510 rs928948518	365	Y>C		No	ClinGen gnomAD
rs774796830 CA5685234	365	Y>D		No	ClinGen ExAC gnomAD
rs928948518 CA213162969	365	Y>F		No	ClinGen gnomAD
rs774796830 CA378146511	365	Y>H		No	ClinGen ExAC gnomAD
rs1453370245 CA378146401	366	I>T		No	ClinGen TOPMed
rs764586725 CA5685233	366	I>V		No	ClinGen ExAC gnomAD
TCGA novel	368	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378146378 rs1199755368	368	P>S		No	ClinGen TOPMed
rs1225221774 CA378146364	369	D>E		No	ClinGen gnomAD
TCGA novel	370	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5685231 rs775530768	372	I>V		No	ClinGen ExAC gnomAD
COSM914663 rs1397294376 CA378146315	374	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs769982632 CA5685230	376	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs190157850 CA213162952	377	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5685210 rs372404908	382	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1240286662 CA378145819	385	G>E		No	ClinGen TOPMed gnomAD
rs867107442 CA213160186	386	G>E		No	ClinGen TOPMed gnomAD
CA378145816 rs1190321453	386	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM914682 CA378145810 rs1437023867	387	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs369334370 CA5685209 COSM1664305	387	R>W	kidney Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs761037543 CA5685208	389	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	389	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773137939 CA5685207	392	V>A		No	ClinGen ExAC gnomAD
rs555202689 CA213160182	392	V>M		No	ClinGen TOPMed
CA5685203 COSM3414675 rs376036249	395	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA378145758 rs575431793	395	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5685202 rs575431793	395	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs779512423 CA378145744 CA5685201	397	N>K		No	ClinGen ExAC TOPMed gnomAD
CA378145746 rs1441017766	397	N>S		No	ClinGen gnomAD
CA378145738 rs1335607209	398	A>E		No	ClinGen gnomAD
rs984918630 CA213160138	399	F>L		No	ClinGen Ensembl
rs1427154209 CA378145728	400	A>S		No	ClinGen gnomAD
CA213160136 rs867924578	401	Q>P		No	ClinGen Ensembl
CA378145714 rs1163455979	402	M>R		No	ClinGen gnomAD
CA378145701 rs1288210942	403	K>N		No	ClinGen TOPMed
CA378145703 rs1420400234	403	K>T		No	ClinGen gnomAD
CA378145689 COSM914659 rs1410171543	405	P>L	Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1410171543 CA378145690	405	P>Q		No	ClinGen gnomAD
rs1205794790 CA378145667	408	A>D		No	ClinGen TOPMed
CA378145668 rs1589704318	408	A>S		No	ClinGen Ensembl
rs1326516907 CA378145657	410	P>A		No	ClinGen gnomAD
rs1247105458 CA378145652	410	P>L		No	ClinGen gnomAD
CA378145646 rs1564880555	411	K>M		No	ClinGen Ensembl
rs1219821949 CA378144040	413	M>I		No	ClinGen gnomAD
CA5685178 rs371709758	413	M>L		No	ClinGen ESP ExAC gnomAD
CA378144064 rs371709758	413	M>V		No	ClinGen ESP ExAC gnomAD
rs919864955 CA213153385	414	H>N		No	ClinGen gnomAD
CA5685177 rs779205386	414	H>R		No	ClinGen ExAC TOPMed gnomAD
CA378144025 rs919864955	414	H>Y		No	ClinGen gnomAD
rs368140619 CA5685176	416	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA213153377 rs368140619	416	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs975086920 CA213153336	417	S>C		No	ClinGen Ensembl
rs1339018676 CA378143972	418	T>I		No	ClinGen gnomAD
COSM1345731 CA378143971 rs1428401566	419	D>N	large_intestine Variant assessed as Somatic; 4.64e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1308349525 CA378143932	421	N>K		No	ClinGen TOPMed
CA5685171 rs750638376	421	N>S		No	ClinGen ExAC TOPMed gnomAD
CA378143918 rs1185805311	422	Q>H		No	ClinGen gnomAD
TCGA novel	423	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145837135 CA378143888	425	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5685169 rs145837135	425	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338634704 CA378143879	426	A>T		No	ClinGen Ensembl
COSM415173 rs1486573405 CA378143873	426	A>V	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA378143831 rs1205684318	429	E>D		No	ClinGen gnomAD
CA378143815 rs1309568739	431	N>D		No	ClinGen gnomAD
CA378143805 rs1169186861	431	N>K		No	ClinGen TOPMed
rs775337884 CA5685165	434	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs368458074 CA5685164	435	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs865911626 CA213153221	437	N>S		No	ClinGen Ensembl
rs374144953 CA378143682	444	R>C		No	ClinGen ESP TOPMed gnomAD
rs374144953 CA378143681	444	R>G		No	ClinGen ESP TOPMed gnomAD
rs941888485 COSM1227126 CA213153201	444	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs374144953 CA213153209	444	R>S		No	ClinGen ESP TOPMed gnomAD
rs1463344858 CA378143672	446	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1449765589 CA378143660	447	Y>*		No	ClinGen Ensembl
CA5685161 rs376362333	447	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	448	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378143646 rs1169740376	449	T>I		No	ClinGen gnomAD
CA5685159 rs144800986	451	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378143638 rs1181246473	451	A>V		No	ClinGen gnomAD
CA378143594 rs1238416973	457	S>N		No	ClinGen TOPMed gnomAD
CA5685157 rs749758505	457	S>R		No	ClinGen ExAC TOPMed gnomAD
CA378143590 rs1272140875	458	S>G		No	ClinGen TOPMed
TCGA novel	459	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5685154 rs143280827	460	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5685156 rs780742915	460	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5685155 rs143280827	460	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs767760730 CA5685153	461	P>S		No	ClinGen ExAC gnomAD
CA378143564 rs1294538892	462	E>G		No	ClinGen gnomAD
COSM914655 CA5685151 rs751765356	463	G>D	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA378143528 rs571084203	467	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5685149 rs571084203	467	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5685147 rs199785933	468	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564871907 CA378143491	470	Y>N		No	ClinGen Ensembl
TCGA novel	471	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765864855 CA5685127	473	A>T		No	ClinGen ExAC gnomAD
rs1380071601 CA378141505	474	G>W		No	ClinGen TOPMed
rs1230167859 CA378141499	475	I>L		No	ClinGen TOPMed
CA5685126 rs760138026	475	I>T		No	ClinGen ExAC TOPMed gnomAD
CA378141491 rs1450949270	476	K>R		No	ClinGen gnomAD
rs1024283070 CA213142877	478	M>I		No	ClinGen TOPMed
rs971223879 CA213142870	481	A>S		No	ClinGen TOPMed
rs1271551252 CA378141449	482	N>S		No	ClinGen TOPMed
CA5685125 rs772858053	483	K>R		No	ClinGen ExAC gnomAD
CA378141437 rs1480971453	484	K>E		No	ClinGen gnomAD
TCGA novel	484	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378141438 rs1480971453	484	K>Q		No	ClinGen gnomAD
CA5685124 rs771639482	486	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5685122 rs775990140	489	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1004906095 CA213142849	490	K>Q		No	ClinGen TOPMed gnomAD
CA5685120 rs562693645	491	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs770320188 CA5685121	491	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	493	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771002415 CA5685118	494	T>A		No	ClinGen ExAC TOPMed gnomAD
rs150053424 CA5685117	495	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs752958491 CA5685114	502	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs546084462 CA5685113	502	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA378141311 rs752958491	502	R>S		No	ClinGen ExAC TOPMed gnomAD
rs754789654 CA5685112	503	L>V		No	ClinGen ExAC gnomAD
rs1318641243 CA378141285	506	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
RCV000965816 rs140516942 CA5685108	509	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761523832 CA5685106	510	D>H		No	ClinGen ExAC gnomAD
CA213142706 rs1009493879	511	L>P		No	ClinGen TOPMed gnomAD
CA378141253 rs1009493879	511	L>R		No	ClinGen TOPMed gnomAD
TCGA novel	512	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378141247 rs1426879936	512	R>S		No	ClinGen gnomAD
TCGA novel	512	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774194507 CA5685105	513	G>E		No	ClinGen ExAC TOPMed gnomAD
CA213142697 CA378141245 rs889256203	513	G>R		No	ClinGen TOPMed gnomAD
CA5685102 rs142994220	514	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	514	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1675547 CA5685103 rs760008969	514	D>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA213142641 rs1042010952	515	P>R		No	ClinGen Ensembl
CA5685098 rs772190900	516	V>A		No	ClinGen ExAC gnomAD
rs369987397 CA5685100 CA213142581	516	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5685099 rs369987397	516	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1315115502 CA378141224	517	H>R		No	ClinGen gnomAD
TCGA novel	517	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5685096 rs779137691 CA378141207	519	L>F		No	ClinGen ExAC
TCGA novel	522	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA213134968 rs572614172	526	H>Q		No	ClinGen Ensembl
rs201589499 CA213134964	527	L>F		No	ClinGen gnomAD
CA378140514 rs774502148	528	H>N		No	ClinGen ExAC gnomAD
CA5685077 rs774502148	528	H>Y		No	ClinGen ExAC gnomAD
CA213134931 rs1030985133	535	P>R		No	ClinGen TOPMed gnomAD
rs768854790 CA5685076	535	P>T		No	ClinGen ExAC TOPMed gnomAD
rs749595942 CA378140368	539	G>A		No	ClinGen ExAC TOPMed gnomAD
CA5685075 rs749595942	539	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	539	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5685074 rs779686703	540	I>M		No	ClinGen ExAC TOPMed gnomAD
CA213134895 rs1033804068	541	I>V		No	ClinGen TOPMed
CA378140328 rs1589648178	543	S>N		No	ClinGen Ensembl
TCGA novel	547	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378140256 rs1470624486	549	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	553	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1038886641 CA213134574	555	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1038886641 CA378140204	555	G>D		No	ClinGen TOPMed gnomAD
CA213134571 rs868280396	556	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1344206371 CA378140191	557	I>T		No	ClinGen gnomAD
CA378140194 rs1225935355	557	I>V		No	ClinGen gnomAD
CA378140168 rs968058008	561	L>M		No	ClinGen TOPMed
CA5685050 rs530443421	564	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA378140142 rs1431593550	565	D>N		No	ClinGen gnomAD
TCGA novel	566	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378140123 rs1316568945	567	S>N		No	ClinGen gnomAD
rs372113625 CA5685048	568	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1406592213 CA378140080	573	D>V		No	ClinGen gnomAD
CA213134521 rs377619822	574	A>S		No	ClinGen Ensembl
rs202169678 CA5685047	574	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA378140063 rs1271992326	576	N>S		No	ClinGen gnomAD
rs778633420 CA5685046	577	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1169071761 TCGA novel CA378140051	578	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
TCGA novel	579	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378140015 rs1333378048	581	I>F		No	ClinGen TOPMed
CA5685018 rs759773150	582	F>L		No	ClinGen ExAC gnomAD
TCGA novel	585	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5685016 rs750523798	586	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA378139977 rs1170850763	586	H>Y		No	ClinGen TOPMed gnomAD
CA5685015 rs760550708	587	S>R		No	ClinGen ExAC gnomAD
CA5685014 rs773227934	588	V>L		No	ClinGen ExAC gnomAD
TCGA novel	589	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1422844121 CA378139957	589	L>S		No	ClinGen gnomAD
CA378139934 rs1250740388	592	D>E		No	ClinGen gnomAD
CA213132921 rs1019690422	593	Q>R		No	ClinGen Ensembl
rs192653791 CA213132868	595	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs192653791 CA5685012	595	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5685011 rs773883445	596	V>I		No	ClinGen ExAC gnomAD
CA378139909 rs1490550952	597	L>V		No	ClinGen TOPMed gnomAD
rs1008342837 CA213132830	600	M>I		No	ClinGen gnomAD
rs558980380 CA5685009	600	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5685008 rs779709731	602	H>Y		No	ClinGen ExAC gnomAD
rs1332517979 CA378139855	605	L>P		No	ClinGen TOPMed
rs758939088 CA5685004	606	P>T		No	ClinGen ExAC gnomAD
rs1307419666 CA378139847	607	I>V		No	ClinGen gnomAD
COSM914651 CA5685003 rs753182526	608	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5685002 rs201674495	608	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM914649 CA5685001 rs201674495	608	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201160610 CA378139834 CA213132762	609	H>Q		No	ClinGen Ensembl
CA5685000 rs754046608	609	H>R		No	ClinGen ExAC gnomAD
rs1456922429 CA378139829	610	L>H		No	ClinGen gnomAD
CA378139793 rs1463735240	613	S>R		No	ClinGen gnomAD
CA5684981 rs753955864	615	D>V		No	ClinGen ExAC gnomAD
rs1204071718 CA378139772	616	E>G		No	ClinGen gnomAD
TCGA novel	617	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780350572 CA5684980	621	S>N		No	ClinGen ExAC gnomAD
TCGA novel	627	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378139692 rs1232424769	627	S>Y		No	ClinGen gnomAD
CA378139683 rs1293890812	628	I>M		No	ClinGen TOPMed gnomAD
rs1326554813 CA378139687	628	I>V		No	ClinGen gnomAD
TCGA novel	630	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	631	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770093094 CA213130578	632	V>A		No	ClinGen Ensembl
rs1589636751 CA378139638	635	V>G		No	ClinGen Ensembl
rs1364038810 CA378139628	637	G>D		No	ClinGen gnomAD
rs1336917503 CA378139626	638	E>K		No	ClinGen gnomAD
CA378139612 rs1470511350	640	G>R		No	ClinGen TOPMed gnomAD
rs751443250 CA5684975 COSM1720517	641	E>K	NS haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	642	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5684974 rs200162724	644	L>V		No	ClinGen ExAC TOPMed gnomAD
COSM1243633 CA5684972 rs533738961	647	T>I	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5684973 rs762932747	647	T>S		No	ClinGen ExAC gnomAD
rs762844376 CA5684954	648	V>E		No	ClinGen ExAC gnomAD
rs763940656 CA213128516	648	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5684955 rs763940656	648	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1247774085 CA378139502	654	H>Y		No	ClinGen TOPMed gnomAD
CA378139494 COSM1560981 rs1353842064	655	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs752678705 CA5684953	655	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	658	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5684952 rs764678095	660	L>M		No	ClinGen ExAC
CA5684950 rs776289707	664	D>V		No	ClinGen ExAC gnomAD
CA213128465 rs919431537	668	I>V		No	ClinGen TOPMed gnomAD
CA5684946 rs769195459	672	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs143914023 CA5684947	672	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	673	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5684945 rs749767675	674	A>D		No	ClinGen ExAC gnomAD
CA378139359 rs1269445738	675	E>G		No	ClinGen gnomAD
rs769932852 CA5684943	675	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1194812768 CA378139350 COSM247522	676	E>V	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
rs558359043 CA5684942	678	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
rs538545184 CA5684941	680	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs538545184 CA5684940	680	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA378139306 rs1288783979	682	Q>H		No	ClinGen gnomAD
rs774492467 CA213128415	683	L>P		No	ClinGen Ensembl
rs375874787 CA5684938	684	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5684937 rs758211379	685	S>N		No	ClinGen ExAC gnomAD
CA378139287 rs1317155670	685	S>R		No	ClinGen TOPMed
CA5684936 rs752590549	686	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1365630409 COSM259094 CA378145005	687	G>E	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	688	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5684923 rs148239041	688	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5684922 rs747149092	689	A>G		No	ClinGen ExAC gnomAD
CA378144970 rs747149092	689	A>V		No	ClinGen ExAC gnomAD
rs758121854 CA5684920	690	C>R		No	ClinGen ExAC gnomAD
TCGA novel	695	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378144873 rs1589625585	695	K>R		No	ClinGen Ensembl
rs1390990441 CA378144764	700	K>R		No	ClinGen gnomAD
CA5684918 rs778748506	701	R>*		No	ClinGen ExAC TOPMed gnomAD
rs754841231 CA5684917	701	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754841231 CA378144754	701	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5684916 rs753864653	702	K>R		No	ClinGen ExAC gnomAD
rs765760963 CA5684915	704	E>D		No	ClinGen ExAC gnomAD
CA5684912 rs767296473	705	R>L		No	ClinGen ExAC TOPMed gnomAD
rs767296473 COSM3414672 CA5684913	705	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM172529 CA5684914 rs755683866	705	R>W	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs957294089 CA213185858	707	C>Y		No	ClinGen Ensembl
rs1212915466 CA378144630 COSM537417	708	M>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs775990100 CA5684910	708	M>T		No	ClinGen ExAC gnomAD
rs761611850 CA5684911	708	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1001157004 CA213185848	709	Q>K		No	ClinGen Ensembl
rs1213792728 CA378144574	711	K>N		No	ClinGen TOPMed
CA378144580 rs1564840660	711	K>R		No	ClinGen Ensembl
CA378144539 rs1310974685	713	A>S		No	ClinGen gnomAD
CA213185845 rs765670901	714	G>A		No	ClinGen ExAC TOPMed gnomAD
CA5684909 rs765670901	714	G>E		No	ClinGen ExAC TOPMed gnomAD
CA5684908 rs759935833	715	A>V		No	ClinGen ExAC gnomAD
CA5684907 rs560958788	716	M>V		No	ClinGen ExAC gnomAD
CA378144444 rs1564840617	717	E>*		No	ClinGen Ensembl
CA378144399 rs1374761389	718	S>C		No	ClinGen TOPMed gnomAD
rs1374761389 CA378144396	718	S>F		No	ClinGen TOPMed gnomAD
rs1004651751 CA213185834	718	S>P		No	ClinGen Ensembl
rs1244628156 CA378144212	724	T>A		No	ClinGen TOPMed
CA213185823 rs1047268152	724	T>N		No	ClinGen Ensembl
rs747095035 CA5684904	726	A>T		No	ClinGen ExAC gnomAD
CA378144133 rs1421449311	729	D>H		No	ClinGen TOPMed gnomAD
rs539985772	730	C>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs774662257 CA5684883	731	D>N		No	ClinGen ExAC TOPMed gnomAD
CA378142708 rs1204531654	732	Y>C		No	ClinGen gnomAD
CA213184145 rs201274907	734	Y>H		No	ClinGen Ensembl
CA378142676 rs1267517816	736	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5684881 rs371901226	736	R>Q		No	ClinGen ESP ExAC gnomAD
rs112925464 CA213184135	738	S>G		No	ClinGen Ensembl
CA5684879 rs769853476	738	S>I		No	ClinGen ExAC TOPMed gnomAD
CA5684880 rs769853476	738	S>N		No	ClinGen ExAC TOPMed gnomAD
rs112925464 CA213184139	738	S>R		No	ClinGen Ensembl
rs1288720677 CA378142625	738	S>R		No	ClinGen gnomAD
CA5684878 rs138074544	739	N>H		No	ClinGen ESP ExAC TOPMed
TCGA novel	740	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5684876 rs755492792	744	P>L		No	ClinGen ExAC gnomAD
rs755492792 CA213184099	744	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378142424 rs1369100615	748	F>C		No	ClinGen gnomAD
rs1160415837 CA378142337	752	S>F		No	ClinGen gnomAD
CA378142318 rs1180647692	754	S>P		No	ClinGen TOPMed
rs761148118 CA378142279	756	D>G		No	ClinGen ExAC gnomAD
CA5684870 rs761148118	756	D>V		No	ClinGen ExAC gnomAD
rs1471827930 CA378142227	760	G>E		No	ClinGen TOPMed
rs1433911139 CA378142220	761	Q>R		No	ClinGen gnomAD
rs750949558 CA5684869	762	S>C		No	ClinGen ExAC gnomAD
CA5684868 rs767543347	762	S>N		No	ClinGen ExAC gnomAD
rs1488289967 CA378142170	765	N>S		No	ClinGen gnomAD
CA5684867 rs761882376	766	S>N		No	ClinGen ExAC gnomAD
CA5684866 rs774375522	767	T>A		No	ClinGen ExAC gnomAD
rs1474669968 CA378140993	769	Y>H		No	ClinGen gnomAD
rs775601236 CA5684846	771	K>N		No	ClinGen ExAC TOPMed gnomAD
CA378140930 rs1404986534	772	V>A		No	ClinGen TOPMed gnomAD
CA5684845 rs199784938	773	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1418263458 CA378140891	775	N>S		No	ClinGen TOPMed
CA213172112 rs538066629	779	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5684843 rs538066629	779	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5684842 rs370679881 COSM1296924	781	V>I	urinary_tract Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA378140769 rs370679881 COSM537011	781	V>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	782	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746985682 CA5684841	783	E>K		No	ClinGen ExAC gnomAD
TCGA novel	784	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378140715 rs200289391	784	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5684840 rs200289391	784	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	784	Q>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378140698 rs1334065653	786	T>A		No	ClinGen TOPMed
CA213172069 rs61734226	789	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000888941 rs61734226 CA5684838	789	P>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs61734226 CA5684839	789	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5684834 rs781598774	790	Q>H		No	ClinGen ExAC
TCGA novel	790	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746214465 CA5684835	790	Q>R		No	ClinGen ExAC gnomAD
rs757755413 CA5684833	791	K>R		No	ClinGen ExAC gnomAD
rs201480034 CA5684830	794	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1284352108 CA378140646	794	G>R		No	ClinGen gnomAD
TCGA novel	794	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	795	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378140643 rs1342617407	795	K>Q		No	ClinGen gnomAD
CA5684829 rs752902006	795	K>R		No	ClinGen ExAC gnomAD
CA5684828 rs146666715	797	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA5684826 COSM3934919 rs776564036	798	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs922485497 CA213171984	798	R>W		No	ClinGen gnomAD
COSM1504080 rs1427827528 CA378140621	799	G>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1448226292 CA378140617	799	G>V		No	ClinGen TOPMed
COSM304334 CA5684823 rs552642679	801	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs771542057 CA5684822	803	V>F		No	ClinGen ExAC TOPMed
CA5684821 rs773906334	804	T>K		No	ClinGen ExAC TOPMed gnomAD
rs773906334 CA5684820	804	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1589573560 CA378140547	806	D>G		No	ClinGen Ensembl
rs569730754 CA213171934	806	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	806	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	807	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5684816 rs760037374	808	K>R		No	ClinGen ExAC TOPMed gnomAD
COSM1504084 rs150967356 CA5684814	811	A>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM287550 rs150967356 CA5684815	811	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	812	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	815	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779202074 COSM352279 CA5684811	815	H>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs960845496 CA5684808	817	V>I		No	ClinGen TOPMed
CA378140383 rs1233016118	819	L>V		No	ClinGen gnomAD
COSM427058 CA213171835 rs979629140	820	M>I	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs113178264 CA213171834	821	V>A		No	ClinGen Ensembl
CA378140352 rs1290693565	821	V>L		No	ClinGen gnomAD
TCGA novel	827	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1173830131 CA378139256	827	D>V		No	ClinGen TOPMed gnomAD
CA5684784 rs761712544	828	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	829	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199901136 CA5684783	829	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs148572633 CA5684781	830	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs372413848 COSM3723672 CA5684782	830	R>W	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA378139218 rs1269366264	834	Q>E		No	ClinGen gnomAD
CA378139207 rs1207160012	835	V>A		No	ClinGen gnomAD
rs1250265136 CA378139209	835	V>L		No	ClinGen TOPMed gnomAD
rs1250265136 CA378139210	835	V>M		No	ClinGen TOPMed gnomAD
rs775152920 CA5684780	836	D>G		No	ClinGen ExAC TOPMed gnomAD
CA213152417 rs1006900079	836	D>H		No	ClinGen TOPMed
CA378139192 rs3802553	837	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA213152404 rs563802181	839	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA5684776 rs772536992	842	A>T		No	ClinGen ExAC gnomAD
rs578057896 CA5684775	842	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5684772 rs749364209	845	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	846	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5684770 rs756255470	846	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378139133 rs1393924583	847	N>S		No	ClinGen TOPMed gnomAD
rs1397728440 CA378139122	849	S>G		No	ClinGen gnomAD
rs1168892673 CA378139119	849	S>T		No	ClinGen gnomAD
rs746146635 CA5684769	850	S>F		No	ClinGen ExAC TOPMed gnomAD
rs780804907 CA5684768	851	M>L		No	ClinGen ExAC gnomAD
CA213152307 rs923784425	851	M>T		No	ClinGen Ensembl
rs780804907 CA378139110	851	M>V		No	ClinGen ExAC gnomAD
TCGA novel	853	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3728321 CA5684767 rs757079289	854	G>A	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5684765 rs201889963	858	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA378139040 rs916527396	860	Q>H		No	ClinGen TOPMed
rs758389912 CA5684764	861	N>D		No	ClinGen ExAC gnomAD
CA213152269 rs764843779	861	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5684763 rs752146149	861	N>S		No	ClinGen ExAC gnomAD
rs1213838018 CA378139030	862	V>A		No	ClinGen gnomAD
CA5684761 COSM1345712 rs759089178	862	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5684760 COSM175708 rs776376944	866	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs767926672 CA213152245 COSM147042	866	R>H	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA378139005 rs767926672	866	R>L		No	ClinGen ExAC TOPMed gnomAD
rs767926672 CA5684759	866	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5684757 rs774912590	869	V>M		No	ClinGen ExAC gnomAD
CA378138979 rs1482026973	871	V>M		No	ClinGen TOPMed
rs962210552 CA213152228	873	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	874	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368327754 CA378138954	874	S>T		No	ClinGen gnomAD
TCGA novel	876	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1409816243 CA378138926	878	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	878	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs535427758 CA5684755	879	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378138915 rs1589515303	880	A>G		No	ClinGen Ensembl
rs200375086 CA5684753	880	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	880	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5684752 rs746041232	881	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5684750 rs756991314	882	L>V		No	ClinGen ExAC gnomAD
CA378138885 rs1204057833	885	H>R		No	ClinGen TOPMed gnomAD
rs1386804007 CA378138844	889	P>L		No	ClinGen gnomAD
CA378138819 rs372747201	893	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372747201 CA5684735	893	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA378138812 rs1248990817 COSM1296922	894	H>R	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	895	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1362528668 CA378138798	896	S>C	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1158479787 CA378138779	899	F>C		No	ClinGen gnomAD
rs1158479787 CA378138780	899	F>S		No	ClinGen gnomAD
rs1433786373 CA378138767	901	T>N		No	ClinGen gnomAD
TCGA novel	903	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1191981334 CA378138754	903	K>R		No	ClinGen gnomAD
TCGA novel	904	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	906	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378138729 rs1564786668	906	E>V		No	ClinGen Ensembl
rs1248381722 CA378138724	907	V>D		No	ClinGen gnomAD
CA5684732 rs150858505	907	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs141732647 CA5684731	908	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144056795 CA378138710	909	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144056795 CA378138711	909	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5684730 COSM914626 rs144056795	909	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5684728 rs777521482	910	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747968529 CA5684726	912	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	914	W>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378138653 rs1298841524	918	V>A		No	ClinGen gnomAD
CA5684723 rs753383030	919	G>A		No	ClinGen ExAC gnomAD
CA5684724 rs534269534 COSM1744441	919	G>S	biliary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA5684722 rs779747373	921	L>V		No	ClinGen ExAC TOPMed gnomAD
CA378138635 rs1168029465	922	T>A		No	ClinGen Ensembl
CA5684721 rs201933927	922	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1454009985 CA378138629	923	Y>D		No	ClinGen gnomAD
rs373926974 CA5684719 CA378138623	924	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373926974 CA5684718	924	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	925	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1261040539 CA378138616	925	W>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	926	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378138602 rs1204463843	926	W>C		No	ClinGen TOPMed
CA5684714 COSM1163582 rs372582803	928	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs569207276 CA5684712	930	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1342440262 COSM1345710 CA378138568	931	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA378138565 rs1230150101	932	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA378138543 rs1462768503	933	P>R		No	ClinGen gnomAD
rs780637464 CA5684684	939	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1032275681 CA213141745	940	S>N		No	ClinGen TOPMed
CA5684682 rs746689333	941	I>M		No	ClinGen ExAC gnomAD
CA213141713 rs999089250	941	I>T		No	ClinGen TOPMed gnomAD
rs1253316599 CA378138492	941	I>V		No	ClinGen gnomAD
rs1210820545 CA378138470	944	R>K		No	ClinGen TOPMed gnomAD
CA378138471 rs1210820545	944	R>T		No	ClinGen TOPMed gnomAD
rs755368887 CA5684680	945	F>L		No	ClinGen ExAC gnomAD
CA5684679 rs754277933	946	T>A		No	ClinGen ExAC gnomAD
CA213141684 rs757823144	952	T>I		No	ClinGen Ensembl
TCGA novel	956	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA213141663 rs969382837	957	V>F		No	ClinGen Ensembl
rs1281381026 CA378138376	958	S>L		No	ClinGen gnomAD
CA5684677 rs756679103	959	A>S		No	ClinGen ExAC TOPMed gnomAD
CA378138369 rs1335414568	960	G>R		No	ClinGen gnomAD
CA378138336 rs1442914460	965	Q>*		No	ClinGen gnomAD
rs1039809372 CA213141645	967	T>K		No	ClinGen TOPMed
CA5684675 rs767542784	969	T>I		No	ClinGen ExAC gnomAD
rs1457723558 CA378138302	970	I>F		No	ClinGen gnomAD
rs1457723558 CA378138304	970	I>L		No	ClinGen gnomAD
CA5684672 rs144597273	971	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5684673 rs144597273	971	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA378138293 rs1469129565	972	V>I		No	ClinGen gnomAD
CA5684671 rs558601308	973	Y>H		No	ClinGen ExAC TOPMed gnomAD
COSM537019 CA5684648 rs370004055	976	F>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5684647 rs760117813	977	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775353678 CA213135733	977	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1429965465 CA378138240	978	S>C		No	ClinGen TOPMed gnomAD
CA378138239 rs1429965465	978	S>F		No	ClinGen TOPMed gnomAD
COSM914624 rs377202317 CA5684645	980	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs747847006 CA5684644	980	R>H		No	ClinGen ExAC TOPMed gnomAD
rs529134010 CA5684643	981	L>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	983	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA213135673 rs368973279	986	N>D		No	ClinGen ESP TOPMed gnomAD
CA378138179 rs1315885939	988	D>E		No	ClinGen gnomAD
CA5684642 rs770171685	988	D>G		No	ClinGen ExAC gnomAD
CA5684641 rs746315976	989	D>V		No	ClinGen ExAC gnomAD
rs1424198491 CA378138155	991	N>K		No	ClinGen TOPMed
CA378138149 rs1422065804	992	P>L		No	ClinGen gnomAD
CA378138126 rs1234805101	996	E>K		No	ClinGen gnomAD
CA5684639 rs757837242	998	R>G		No	ClinGen ExAC gnomAD
rs150333833 CA5684638	999	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA378138102 rs1484723417	999	R>T		No	ClinGen gnomAD
CA5684637 rs778043201	1001	I>V		No	ClinGen ExAC gnomAD
CA378138083 rs766834176	1002	G>C		No	ClinGen ExAC TOPMed gnomAD
CA5684634 rs765084196	1002	G>D		No	ClinGen ExAC gnomAD
rs766834176 CA5684635	1002	G>S		No	ClinGen ExAC TOPMed gnomAD
rs759255280 CA5684633	1003	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA378138076 rs1295041984	1004	V>I		No	ClinGen gnomAD
rs1358315092 CA378138064	1005	I>M		No	ClinGen TOPMed
rs371712299 CA5684632	1006	K>E		No	ClinGen ESP ExAC gnomAD
rs1354238861 CA378138049	1007	K>N		No	ClinGen TOPMed gnomAD
CA5684631 rs367878344	1010	V>M		No	ClinGen ESP ExAC gnomAD
CA378138028 rs1291077195	1011	E>G		No	ClinGen gnomAD
CA378138030 rs1439904609	1011	E>K		No	ClinGen TOPMed
rs1417689691 CA378138012	1012	A>T		No	ClinGen gnomAD
rs1159941975 CA378137986	1016	P>S		No	ClinGen gnomAD
rs761322129 CA5684607	1017	G>D		No	ClinGen ExAC gnomAD
CA5684608 rs766942715	1017	G>S		No	ClinGen ExAC gnomAD
CA5684606 rs773906235	1019	H>Y		No	ClinGen ExAC gnomAD
CA213130895 rs965547146	1021	L>P		No	ClinGen Ensembl
CA378137950 rs1357316515	1022	V>L		No	ClinGen TOPMed
CA378137946 rs370556758	1023	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5684605 rs370556758	1023	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762709776 CA5684604	1023	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA213130859 rs147930213	1024	V>A		No	ClinGen ESP TOPMed gnomAD
rs778044175 CA213130824	1025	L>V		No	ClinGen Ensembl
rs376177439 CA5684601	1026	P>S		No	ClinGen ESP ExAC gnomAD
rs773861818 CA5684600	1028	L>F		No	ClinGen ExAC gnomAD
CA5684599 COSM386313 rs772223138	1029	P>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA378137911 rs772223138	1029	P>L		No	ClinGen ExAC gnomAD
CA378137884 rs779173111	1034	L>F		No	ClinGen ExAC TOPMed gnomAD
rs779173111 CA378137883	1034	L>I		No	ClinGen ExAC TOPMed gnomAD
CA5684597 rs779173111	1034	L>V		No	ClinGen ExAC TOPMed gnomAD
CA213130781 rs865888395	1037	L>P		No	ClinGen gnomAD
CA378137858 rs1310935676	1038	P>H		No	ClinGen TOPMed
rs749547019 CA5684595	1039	Y>C		No	ClinGen ExAC gnomAD
CA5684594 rs41291860	1040	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA378137843 rs1455452449	1040	Q>R		No	ClinGen gnomAD
rs767426806 CA5684591	1041	D>G		No	ClinGen ExAC TOPMed gnomAD
rs750298905 CA5684592 COSM683393	1041	D>N	lung Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA378137831 rs200234081	1042	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5684590 rs200234081	1042	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1045	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378137809 rs1589457551	1046	N>D		No	ClinGen Ensembl
TCGA novel	1047	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5684588 rs763712882	1047	K>N		No	ClinGen ExAC TOPMed gnomAD
rs144896133 CA5684589	1047	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs142651856 CA213130662 CA5684587	1048	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1484634581 CA378137787	1049	S>L		No	ClinGen gnomAD
CA5684585 rs766585530	1050	T>A		No	ClinGen ExAC TOPMed gnomAD
rs761135503 CA378137782	1050	T>I		No	ClinGen ExAC TOPMed gnomAD
rs761135503 CA5684584	1050	T>S		No	ClinGen ExAC TOPMed gnomAD
CA5684583 rs374134143	1051	D>G		No	ClinGen ESP ExAC gnomAD
CA5684582 rs772704025	1052	D>N		No	ClinGen ExAC TOPMed gnomAD
CA378137759 rs1330858757	1054	E>A		No	ClinGen gnomAD
CA5684580 rs774522221	1055	Q>P		No	ClinGen ExAC gnomAD
CA213172886 rs997271108	1056	I>K		No	ClinGen Ensembl
rs1397399834 CA378137728	1056	I>M		No	ClinGen gnomAD
CA378137732 rs1395692416	1056	I>V		No	ClinGen gnomAD
TCGA novel	1058	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1372500637 CA378137700	1061	I>V		No	ClinGen gnomAD
rs569324090 COSM1345704 CA5684564	1063	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs774926032 CA5684562	1064	L>F		No	ClinGen ExAC gnomAD
TCGA novel	1065	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763072048 CA5684560	1070	H>Y		No	ClinGen ExAC gnomAD
rs1258024159 CA378137623	1072	E>G		No	ClinGen gnomAD
rs775497004 CA5684559	1072	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5684557 rs746140626	1076	G>E		No	ClinGen ExAC gnomAD
rs780918645 CA378137586	1078	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5684556 rs780918645	1078	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5684555 COSM1703012 rs147754225	1080	L>F	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1080	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs936285159 CA213172791	1082	H>Q		No	ClinGen TOPMed
CA5684554 rs201189331	1082	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1399251902 CA378137546	1085	H>R		No	ClinGen gnomAD
rs777779939 CA5684553	1085	H>Y		No	ClinGen ExAC gnomAD
rs752248850	1088	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM1345702 rs758327035 CA5684552	1088	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1368473251 CA378137199	1089	A>G		No	ClinGen gnomAD
rs921554077 CA213160409	1091	L>Q		No	ClinGen TOPMed gnomAD
rs150447595 CA5684518	1093	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144711326 CA5684516	1095	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5684517 rs144711326	1095	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5684515 rs187136160	1097	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs963071010 CA213160368	1097	T>S		No	ClinGen TOPMed gnomAD
rs374972215 CA5684512	1098	H>Q		No	ClinGen ESP ExAC gnomAD
rs1191665942 CA378137137	1100	G>E		No	ClinGen gnomAD
rs745526739 CA5684511	1100	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1102	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1102	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1258533820 CA378137115 CA378137114	1103	M>I		No	ClinGen TOPMed gnomAD
rs758695222 CA5684509	1104	L>P		No	ClinGen ExAC gnomAD
TCGA novel	1105	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5684508 rs559080488	1105	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA213160302 rs1016358470	1106	L>P		No	ClinGen Ensembl
rs1298560828 CA378137085	1109	V>M		No	ClinGen gnomAD
rs1564739477 CA378137069	1111	F>S		No	ClinGen Ensembl
CA5684505 rs753886726	1112	V>A		No	ClinGen ExAC gnomAD
TCGA novel	1112	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355518749 CA378137057	1113	G>E		No	ClinGen gnomAD
CA5684499 rs139132974	1118	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5684500 rs139132974	1118	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378137020 rs1410868871	1119	I>M		No	ClinGen gnomAD
CA213160254 rs998797400	1119	I>T		No	ClinGen Ensembl
CA213160240 rs1002141437	1122	F>L		No	ClinGen TOPMed
rs763032020 CA5684497	1122	F>L		No	ClinGen ExAC TOPMed gnomAD
rs544625851 CA5684496	1123	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5684413 rs751226840 COSM1177530	1124	R>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA378136427 rs1366398510	1125	R>G		No	ClinGen TOPMed gnomAD
CA5684412 rs765460391	1127	A>D		No	ClinGen ExAC TOPMed gnomAD
COSM241711 CA378136396 rs1419247322	1127	A>T	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1180826288 CA378136382	1128	L>F		No	ClinGen gnomAD
rs759932773 CA5684411	1129	P>L		No	ClinGen ExAC gnomAD
TCGA novel	1129	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378136363 rs1370598149	1130	S>F		No	ClinGen TOPMed
CA378136370 rs1257961593	1130	S>P		No	ClinGen TOPMed gnomAD
CA5684409 rs771534219	1134	P>A		No	ClinGen ExAC gnomAD
CA378136329 rs771534219	1134	P>S		No	ClinGen ExAC gnomAD
rs199862885 CA5684408	1135	S>C		No	ClinGen ExAC TOPMed gnomAD
rs199862885 CA378136307	1135	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1349185654 CA378136304	1136	T>P		No	ClinGen TOPMed
rs1349185654 CA378136299	1136	T>S		No	ClinGen TOPMed
rs1244376166 CA378136272	1137	Q>H		No	ClinGen gnomAD
rs1247369771 CA378136252	1139	G>R		No	ClinGen TOPMed
CA378136242 rs1285184436	1139	G>V		No	ClinGen TOPMed
CA378136228 rs1589649271	1140	D>A		No	ClinGen Ensembl
rs773379815 CA378136238	1140	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773379815 CA5684407	1140	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA5684405 rs199862577	1142	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM348178 rs1332031388 CA378136201	1142	S>Y	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs779212603 CA5684404	1143	L>F		No	ClinGen ExAC
rs749075545 CA5684402	1144	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA213158739 rs377457258	1144	R>P		No	ClinGen ESP ExAC gnomAD
rs377457258 CA5684401	1144	R>Q		No	ClinGen ESP ExAC gnomAD
rs755996376 CA5684400	1149	R>G		No	ClinGen ExAC gnomAD
CA5684399 rs116726701	1149	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751090186 CA378136110	1151	A>D		No	ClinGen ExAC TOPMed gnomAD
rs751090186 CA5684396	1151	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5684397 rs141625623	1151	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs751568574 CA213158711	1153	P>L		No	ClinGen Ensembl
rs1238143397 CA378136068	1156	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs201131479 COSM1744437 CA378136065	1156	T>K	biliary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs201131479 CA5684393	1156	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5684392 rs766875839	1157	P>L		No	ClinGen ExAC TOPMed gnomAD
rs533166430 CA378136033	1159	R>L		No	ClinGen ExAC TOPMed gnomAD
rs533166430 CA5684389	1159	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5684390 COSM427050 rs773862245	1159	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1589649021 CA378136015	1161	S>F		No	ClinGen Ensembl
CA5684385 rs774332489	1162	A>S		No	ClinGen ExAC gnomAD
CA213158610 rs559454245	1163	G>R		No	ClinGen 1000Genomes
rs749490452 CA5684383	1164	A>T		No	ClinGen ExAC gnomAD
rs1589648961 CA378135962	1166	Y>C		No	ClinGen Ensembl
CA5684381 rs201700929	1166	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769581329 CA5684380	1167	A>S		No	ClinGen ExAC gnomAD
rs745744962 CA5684379	1168	I>M		No	ClinGen ExAC gnomAD
CA5684378 rs781092312	1169	I>K		No	ClinGen ExAC gnomAD

No associated diseases with Q8WY21

4 regional properties for Q8WY21

Type	Name	Position	InterPro Accession
domain	PKD domain	808 - 880	IPR000601
domain	VPS10	196 - 797	IPR006581
domain	Sortilin, C-terminal	638 - 792	IPR031777
domain	Sortilin, N-terminal	206 - 634	IPR031778

Functions

		Description
EC Number
Subcellular Localization	Membrane; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

1 GO annotations of molecular function

Name	Definition
neuropeptide receptor activity	Combining with a neuropeptide to initiate a change in cell activity.

2 GO annotations of biological process

Name	Definition
neuropeptide signaling pathway	A G protein-coupled receptor signaling pathway initiated by a neuropeptide binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process.
post-Golgi vesicle-mediated transport	The directed movement of substances from the Golgi to other parts of the cell, including organelles and the plasma membrane, mediated by small transport vesicles.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9UPU3	SORCS3	VPS10 domain-containing receptor SorCS3	Homo sapiens (Human)	PR
Q9JLC4	Sorcs1	VPS10 domain-containing receptor SorCS1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGKVGAGGGS	QARLSALLAG	AGLLILCAPG	VCGGGSCCPS	PHPSSAPRSA	STPRGFSHQG
70	80	90	100	110	120
RPGRAPATPL	PLVVRPLFSV	APGDRALSLE	RARGTGASMA	VAARSGRRRR	SGADQEKAER
130	140	150	160	170	180
GEGASRSPRG	VLRDGGQQEP	GTRERDPDKA	TRFRMEELRL	TSTTFALTGD	SAHNQAMVHW
190	200	210	220	230	240
SGHNSSVILI	LTKLYDYNLG	SITESSLWRS	TDYGTTYEKL	NDKVGLKTIL	SYLYVCPTNK
250	260	270	280	290	300
RKIMLLTDPE	IESSLLISSD	EGATYQKYRL	NFYIQSLLFH	PKQEDWILAY	SQDQKLYSSA
310	320	330	340	350	360
EFGRRWQLIQ	EGVVPNRFYW	SVMGSNKEPD	LVHLEARTVD	GHSHYLTCRM	QNCTEANRNQ
370	380	390	400	410	420
PFPGYIDPDS	LIVQDHYVFV	QLTSGGRPHY	YVSYRRNAFA	QMKLPKYALP	KDMHVISTDE
430	440	450	460	470	480
NQVFAAVQEW	NQNDTYNLYI	SDTRGVYFTL	ALENVQSSRG	PEGNIMIDLY	EVAGIKGMFL
490	500	510	520	530	540
ANKKIDNQVK	TFITYNKGRD	WRLLQAPDTD	LRGDPVHCLL	PYCSLHLHLK	VSENPYTSGI
550	560	570	580	590	600
IASKDTAPSI	IVASGNIGSE	LSDTDISMFV	SSDAGNTWRQ	IFEEEHSVLY	LDQGGVLVAM
610	620	630	640	650	660
KHTSLPIRHL	WLSFDEGRSW	SKYSFTSIPL	FVDGVLGEPG	EETLIMTVFG	HFSHRSEWQL
670	680	690	700	710	720
VKVDYKSIFD	RRCAEEDYRP	WQLHSQGEAC	IMGAKRIYKK	RKSERKCMQG	KYAGAMESEP
730	740	750	760	770	780
CVCTEADFDC	DYGYERHSNG	QCLPAFWFNP	SSLSKDCSLG	QSYLNSTGYR	KVVSNNCTDG
790	800	810	820	830	840
VREQYTAKPQ	KCPGKAPRGL	RIVTADGKLT	AEQGHNVTLM	VQLEEGDVQR	TLIQVDFGDG
850	860	870	880	890	900
IAVSYVNLSS	MEDGIKHVYQ	NVGIFRVTVQ	VDNSLGSDSA	VLYLHVTCPL	EHVHLSLPFV
910	920	930	940	950	960
TTKNKEVNAT	AVLWPSQVGT	LTYVWWYGNN	TEPLITLEGS	ISFRFTSEGM	NTITVQVSAG
970	980	990	1000	1010	1020
NAILQDTKTI	AVYEEFRSLR	LSFSPNLDDY	NPDIPEWRRD	IGRVIKKSLV	EATGVPGQHI
1030	1040	1050	1060	1070	1080
LVAVLPGLPT	TAELFVLPYQ	DPAGENKRST	DDLEQISELL	IHTLNQNSVH	FELKPGVRVL
1090	1100	1110	1120	1130	1140
VHAAHLTAAP	LVDLTPTHSG	SAMLMLLSVV	FVGLAVFVIY	KFKRRVALPS	PPSPSTQPGD
1150	1160
SSLRLQRARH	ATPPSTPKRG	SAGAQYAI