AiPD: Autoinhibited Protein Database

Q9Y3S1

Gene name	WNK2
Protein name	Serine/threonine-protein kinase WNK2
Names	Antigen NY-CO-43, Protein kinase lysine-deficient 2, Protein kinase with no lysine 2, Serologically defined colon cancer antigen 43
Species	Homo sapiens (Human)
KEGG Pathway	hsa:65268
EC number
Protein Class

Descriptions

WNK family protein kinases are large enzymes that contain the catalytic lysine in a unique position compared with all other protein kinases. Rat WNK1 (Q9JIH7) contains an autoinhibitory region C-terminal to the catalytic kinase domain.

Autoinhibitory domains (AIDs)

488-511 (Autoinhibitory region) SS

Target domain	195-453 (Protein kinase domain)
Relief mechanism	PTM
Assay

AID

488-511 (Autoinhibitory region)

Target domain

195-453 (Protein kinase domain)

Relief mechanism

PTM (Autophosphorylation at Ser-382 within WNK activation loop and phosphorylation at Ser-378)

Assay

Accessory elements

341-362 (Activation loop from InterPro)

Target domain	195-453 (Protein kinase domain)
Relief mechanism
Assay

References

Xu BE et al. (2002) "Regulation of WNK1 by an autoinhibitory domain and autophosphorylation", The Journal of biological chemistry, 277, 48456-62

Autoinhibited structure

Activated structure

3 structures for Q9Y3S1

Entry ID	Method	Resolution	Chain	Position	Source
6ELM	X-ray	114 A	A	454-549	PDB
6FBK	X-ray	174 A	A	454-549	PDB
AF-Q9Y3S1-F1	Predicted				AlphaFoldDB

1894 variants for Q9Y3S1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs757473977 RCV000623597	1638	D>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA374051680 rs1458977945	4	D>H		No	ClinGen gnomAD
rs1256139764 CA374051751	7	R>G		No	ClinGen TOPMed
CA374051848 rs1291472784	9	D>G		No	ClinGen TOPMed gnomAD
rs75871344 CA196406204	10	V>G		No	ClinGen Ensembl
rs1200556186 CA374051873	10	V>I		No	ClinGen gnomAD
CA374051926 rs1272518502	12	G>C		No	ClinGen TOPMed
CA374051932 rs1452994259	12	G>V		No	ClinGen gnomAD
rs1369815144 CA374051986	13	T>M		No	ClinGen gnomAD
rs1298800136 CA374051991	14	L>V		No	ClinGen gnomAD
CA374052158 rs1343202924	19	R>S		No	ClinGen TOPMed
rs779812947 CA196406216	21	A>S		No	ClinGen Ensembl
rs1371549502 CA374052287	23	P>S		No	ClinGen TOPMed gnomAD
rs1371549502 CA374052296	23	P>T		No	ClinGen TOPMed gnomAD
rs1339644004 CA374052354	24	A>E		No	ClinGen TOPMed
rs1445633975 CA374052321	24	A>T		No	ClinGen TOPMed
rs1416475491 CA374052416	26	M>V		No	ClinGen TOPMed
CA196406225 rs1047342671	29	P>T		No	ClinGen TOPMed gnomAD
CA374052582 rs1296892635	30	R>G		No	ClinGen gnomAD
rs1037636243 CA196406226	30	R>L		No	ClinGen TOPMed
rs1037636243 CA374052584	30	R>P		No	ClinGen TOPMed
CA374052579 rs1296892635	30	R>W		No	ClinGen gnomAD
CA374052660 rs1421287562	31	A>V		No	ClinGen TOPMed
CA374052787 rs1395865918	36	P>S		No	ClinGen gnomAD
CA374052985 rs1305938280	43	R>W		No	ClinGen gnomAD
CA5129045 rs752342230	44	R>L		No	ClinGen ExAC TOPMed gnomAD
rs755723935 CA5129046	45	S>C		No	ClinGen ExAC gnomAD
rs755723935 CA374053038	45	S>R		No	ClinGen ExAC gnomAD
rs993317808 CA196406233	46	V>L		No	ClinGen TOPMed gnomAD
CA196406259 rs1051638354	48	E>D		No	ClinGen TOPMed gnomAD
rs1488532885 CA374053244	50	D>E		No	ClinGen TOPMed gnomAD
CA374053334 rs1214967463	54	P>Q		No	ClinGen gnomAD
rs1467787140 CA374053342	55	P>A		No	ClinGen gnomAD
CA374053432 rs1391176591	59	A>T		No	ClinGen gnomAD
CA374053477 rs1430608653	61	E>*		No	ClinGen gnomAD
CA374053529 rs1234877902	63	P>L		No	ClinGen TOPMed
rs1392358342 CA374053639	68	P>T		No	ClinGen gnomAD
rs1363828862 CA374053705	70	P>L		No	ClinGen gnomAD
CA374053707 rs1363828862	70	P>R		No	ClinGen gnomAD
rs1321388063 CA374053702	70	P>S		No	ClinGen gnomAD
rs1249736830 CA374053718	71	L>P		No	ClinGen gnomAD
rs1249736830 CA374053717	71	L>Q		No	ClinGen gnomAD
rs1011758551 CA196406275	71	L>V		No	ClinGen TOPMed gnomAD
rs1564245698 CA374053825	75	V>E		No	ClinGen Ensembl
CA196406297 rs967634460	78	L>F		No	ClinGen TOPMed gnomAD
rs1476374347 CA374053884	78	L>H		No	ClinGen TOPMed
rs1235033389 CA374053893	79	C>R		No	ClinGen gnomAD
CA196406301 rs977987393	80	K>N		No	ClinGen TOPMed
rs1182073547 CA374053944	81	T>M		No	ClinGen TOPMed
CA196406318 rs960020455	83	R>L		No	ClinGen TOPMed gnomAD
rs1467588823 CA374054012	84	L>P		No	ClinGen gnomAD
CA374054034 rs1162102768	85	I>M		No	ClinGen TOPMed gnomAD
CA374054017 rs1425432726	85	I>V		No	ClinGen TOPMed gnomAD
CA5129051 rs756744238	87	E>G		No	ClinGen ExAC TOPMed gnomAD
CA196406327 rs561768961	88	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA374054091 rs1185185103	88	R>S		No	ClinGen gnomAD
rs1475853464 CA374054104	89	A>T		No	ClinGen gnomAD
CA196406332 rs929246758	90	R>H		No	ClinGen TOPMed gnomAD
CA374054139 rs929246758	90	R>L		No	ClinGen TOPMed gnomAD
CA374054126 rs1415774568	90	R>S		No	ClinGen gnomAD
CA374054191 rs1347142000	92	R>C		No	ClinGen gnomAD
CA374054193 rs1428849226	92	R>H		No	ClinGen gnomAD
CA374054229 rs1435100351	93	P>L		No	ClinGen TOPMed
rs1416553248 CA374054259	94	A>D		No	ClinGen gnomAD
CA374054238 rs1379602385	94	A>T		No	ClinGen gnomAD
CA374054286 rs1488088021	95	A>T		No	ClinGen TOPMed
rs1333554908 CA374054324	96	P>S		No	ClinGen gnomAD
CA196406356 rs1008699003	97	A>P		No	ClinGen TOPMed gnomAD
CA374054341 rs1008699003	97	A>T		No	ClinGen TOPMed gnomAD
CA374054370 rs1189583183	98	P>S		No	ClinGen TOPMed
CA374054366 rs1189583183	98	P>T		No	ClinGen TOPMed
rs1477736157 CA374054410	100	A>S		No	ClinGen TOPMed
CA374054426 rs1195664923	101	L>M		No	ClinGen TOPMed
rs1267215838 CA374054468	102	V>L		No	ClinGen TOPMed
CA196406363 rs550649600	107	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1260574946 CA374054590	107	A>V		No	ClinGen TOPMed gnomAD
CA374054597 rs1486164845	108	P>A		No	ClinGen gnomAD
rs1255962951 CA374054641	110	A>D		No	ClinGen TOPMed gnomAD
CA196406368 rs999121858	110	A>P		No	ClinGen TOPMed gnomAD
CA374054639 rs999121858	110	A>S		No	ClinGen TOPMed gnomAD
CA374054645 rs1255962951	110	A>V		No	ClinGen TOPMed gnomAD
CA374054784 rs1395695288	116	P>R		No	ClinGen TOPMed
CA196406382 rs960249386	117	E>K		No	ClinGen TOPMed
CA374054827 rs1247616760	118	P>S		No	ClinGen TOPMed
rs991623670 CA196406383	121	T>A		No	ClinGen TOPMed
CA374054928 rs1399231008	121	T>R		No	ClinGen gnomAD
CA196406384 rs1022703427	122	Q>K		No	ClinGen TOPMed
CA196406385 rs963157679	122	Q>P		No	ClinGen TOPMed gnomAD
CA196406386 rs973062877	123	E>D		No	ClinGen TOPMed gnomAD
rs569138134 CA196406387	124	P>S		No	ClinGen 1000Genomes TOPMed
CA5129055 rs778517147	133	V>L		No	ClinGen ExAC TOPMed gnomAD
CA374055208 rs1349074328	136	A>V		No	ClinGen gnomAD
CA5129057 rs532728794	137	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs776345682 CA5129058	138	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762045061 CA5129059	138	A>V		No	ClinGen ExAC TOPMed gnomAD
CA374055262 rs1234737414	140	D>E		No	ClinGen gnomAD
CA374055251 rs1205815648	140	D>N		No	ClinGen TOPMed gnomAD
CA374055284 rs899921639	142	G>R		No	ClinGen TOPMed gnomAD
CA196406430 rs899921639	142	G>S		No	ClinGen TOPMed gnomAD
CA374055309 rs1176866187	143	P>L		No	ClinGen gnomAD
rs765357256 CA5129061	147	A>E		No	ClinGen ExAC gnomAD
CA374055424 rs1330733844	148	A>G		No	ClinGen gnomAD
rs774197543 CA5129062	149	A>V		No	ClinGen ExAC gnomAD
CA374055470 rs1311582721	151	V>E		No	ClinGen TOPMed gnomAD
CA5129063 rs759495885	151	V>L		No	ClinGen ExAC TOPMed gnomAD
rs759495885 CA374055462	151	V>L		No	ClinGen ExAC TOPMed gnomAD
CA374055525 rs752469614	155	D>A		No	ClinGen ExAC TOPMed gnomAD
CA5129065 rs752469614	155	D>G		No	ClinGen ExAC TOPMed gnomAD
CA5129064 rs767238507	155	D>N		No	ClinGen ExAC TOPMed gnomAD
CA196406460 rs112049209	157	G>E		No	ClinGen TOPMed
rs755775294 CA374055583	158	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5129066 rs755775294	158	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1275666508 CA374055606	159	A>V		No	ClinGen gnomAD
rs1203969788 CA374055614	160	E>K		No	ClinGen gnomAD
CA374055668 rs1191981485	162	K>R		No	ClinGen gnomAD
rs1394256702 CA374055694	163	P>R		No	ClinGen gnomAD
CA374055709 rs1475585622	164	E>A		No	ClinGen TOPMed gnomAD
rs1475585622 CA374055713	164	E>V		No	ClinGen TOPMed gnomAD
CA374055727 rs1417248285	165	P>A		No	ClinGen TOPMed gnomAD
CA5129071 rs746380289	166	G>W		No	ClinGen ExAC gnomAD
rs1396014501 CA374055766	167	R>C		No	ClinGen gnomAD
rs758903287 CA5129072	167	R>H		No	ClinGen ExAC gnomAD
rs1396014501 CA374055763	167	R>S		No	ClinGen gnomAD
CA374055783 rs1295653321	168	T>S		No	ClinGen TOPMed
rs372409011 CA5129074	169	R>L		No	ClinGen ExAC gnomAD
CA374055793 rs1330912323	169	R>S		No	ClinGen gnomAD
CA5129076 rs769132071	170	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5129075 rs747323091	170	R>W		No	ClinGen ExAC gnomAD
CA374055827 rs1214485177	171	D>V		No	ClinGen gnomAD
rs748351225 CA196406521	172	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5129077 rs777062742	172	E>K		No	ClinGen ExAC gnomAD
CA5129079 rs769813555	173	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5129082 rs759396124	174	E>D		No	ClinGen ExAC
CA5129085 rs368882633	177	E>D		No	ClinGen ESP ExAC TOPMed
CA5129086 rs550974167	178	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1471979913 CA374055944	178	D>V		No	ClinGen TOPMed
CA374055973 rs1475075057	179	D>E		No	ClinGen TOPMed gnomAD
CA196406598 rs906973038	179	D>V		No	ClinGen Ensembl
rs755435593 CA5129097	200	E>G		No	ClinGen ExAC gnomAD
CA374056427 rs1183743016	203	R>G		No	ClinGen gnomAD
rs781674659 CA5129098	210	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA374056599 rs781674659	210	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA374056641 rs1446141065	212	G>A		No	ClinGen gnomAD
rs1474169530 CA374056690	215	T>M		No	ClinGen gnomAD
rs1034219785 CA196406642	220	E>D		No	ClinGen Ensembl
rs1587704549 CA374056785	221	V>G		No	ClinGen Ensembl
CA374056815 rs1587704590	224	C>G		No	ClinGen Ensembl
CA5129103 rs533667034	227	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1195104017 CA374057368	229	R>Q		No	ClinGen TOPMed gnomAD
CA374057367 rs1468687200	229	R>W		No	ClinGen TOPMed gnomAD
rs968476403 CA196401858	236	R>Q		No	ClinGen TOPMed
COSM4149564 COSM4149562 rs1175998540 CA374057475	236	R>W	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA374057503 rs1374190995	238	R>W		No	ClinGen gnomAD
CA196401873 rs78265990	239	F>V		No	ClinGen gnomAD
CA196401879 rs917821117	241	E>A		No	ClinGen TOPMed
rs1399640588 CA374057577	243	A>G		No	ClinGen gnomAD
CA196401915 rs555054349	247	K>N		No	ClinGen 1000Genomes
rs1328104428 CA374057643	248	G>V		No	ClinGen gnomAD
CA5129125 rs201290341	250	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs761729491 CA5129127	252	P>H		No	ClinGen ExAC TOPMed gnomAD
rs1170473849 CA374057709	253	N>S		No	ClinGen TOPMed
rs762492279 CA5129130	255	V>L		No	ClinGen ExAC gnomAD
rs1334843923 CA374057750	256	R>H		No	ClinGen gnomAD
rs1250696951 CA374057807	259	D>N		No	ClinGen gnomAD
CA374057933 rs1441932379	264	S>N		No	ClinGen TOPMed
CA5129134 rs768196350	265	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1257172140 CA374057965	266	K>Q		No	ClinGen TOPMed
CA374058034 rs1564036237	269	R>Q		No	ClinGen Ensembl
CA5129135 rs375860343	269	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374058043 rs1423026434	270	C>Y		No	ClinGen gnomAD
CA374058091 rs1461985890	272	V>M		No	ClinGen gnomAD
CA374058168 rs1457573950	275	T>M		No	ClinGen TOPMed gnomAD
rs778965356 CA5129140	282	T>K		No	ClinGen ExAC gnomAD
rs1355562656 CA374058329	285	T>I		No	ClinGen gnomAD
CA196403161 rs140233198	286	Y>C		No	ClinGen ESP gnomAD
rs765557331 CA5129177	289	R>W		No	ClinGen ExAC gnomAD
rs1441943904 CA374058662	295	P>S		No	ClinGen gnomAD
rs1158866131 CA374058690	296	K>R		No	ClinGen TOPMed
CA374058715 rs1234646716	297	V>F		No	ClinGen gnomAD
CA374058736 rs1456664442	298	L>F		No	ClinGen gnomAD
CA374058767 rs1244824671	299	R>C		No	ClinGen TOPMed
CA196403213 rs542176089	299	R>H		No	ClinGen 1000Genomes gnomAD
rs1171977801 CA374059032	310	L>M		No	ClinGen gnomAD
rs766512505 CA5129180	310	L>P		No	ClinGen ExAC gnomAD
rs137929410 CA5129182	313	H>Y		No	ClinGen ESP ExAC gnomAD
CA196403228 rs147411209	314	T>I		No	ClinGen 1000Genomes
rs753795908 CA5129184	316	T>M		No	ClinGen ExAC TOPMed gnomAD
rs745543864 CA5129187	319	I>V		No	ClinGen ExAC gnomAD
rs1588059031 CA374059322	322	R>*		No	ClinGen Ensembl
rs1253822475 CA374059693	335	T>S		No	ClinGen gnomAD
rs1291346315 CA374059835	342	D>N		No	ClinGen gnomAD
rs773526549 CA5129195	346	A>V		No	ClinGen ExAC gnomAD
rs1165227912 CA374059982	350	R>G		No	ClinGen gnomAD
rs751793708 CA5129198	350	R>I		No	ClinGen ExAC gnomAD
rs1588059442 CA374059995	351	A>T		No	ClinGen Ensembl
rs1330819673 CA374060063	355	K>R		No	ClinGen TOPMed gnomAD
CA374060061 rs1330819673	355	K>T		No	ClinGen TOPMed gnomAD
rs372094446 CA5129233	370	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1245358139 CA374062802	377	V>M		No	ClinGen gnomAD
rs746081856 CA5129237	380	Y>C		No	ClinGen ExAC gnomAD
CA374062960 rs1404468406	384	M>I		No	ClinGen gnomAD
CA374063069 rs1333554279	389	M>L		No	ClinGen gnomAD
COSM1701334 CA374063136 rs1242563362	392	S>L	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1388656633 CA374063162	393	E>D		No	ClinGen Ensembl
rs1257653160 CA374063254	397	S>L		No	ClinGen gnomAD
CA5129247 rs767216659	400	Q>R		No	ClinGen ExAC
CA374063371 rs752343441	402	A>G		No	ClinGen ExAC TOPMed gnomAD
COSM487680 rs752343441 CA5129248	402	A>V	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1439264465 CA374063441	405	I>M		No	ClinGen gnomAD
CA196406912 rs747173900	407	R>H		No	ClinGen Ensembl
CA374063558 rs1444551716	411	C>R		No	ClinGen TOPMed
rs528033003 CA5129276	413	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1365146046 CA374064679	413	I>V		No	ClinGen TOPMed gnomAD
CA5129278 rs748317366	416	A>T		No	ClinGen ExAC gnomAD
rs769760392 CA5129279	417	S>G		No	ClinGen ExAC gnomAD
rs763036164 CA196409167	419	E>Q		No	ClinGen Ensembl
rs1420428906 CA374064781	420	K>T		No	ClinGen TOPMed
CA374064800 rs1223308386	422	H>N		No	ClinGen gnomAD
CA374064816 COSM1111229 rs1204450087	423	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1204450087 CA374064820	423	D>Y		No	ClinGen TOPMed
CA374064925 rs1256124811	430	I>T		No	ClinGen TOPMed
rs1588108008 CA374064991	435	C>S		No	ClinGen Ensembl
rs1307883325 CA374065109	439	E>G		No	ClinGen TOPMed
CA5129286 rs763861327	440	E>K		No	ClinGen ExAC gnomAD
CA374065159 rs1297226764	441	R>T		No	ClinGen TOPMed
CA5129307 rs761320892	443	E>K		No	ClinGen ExAC TOPMed gnomAD
CA196410463 rs960114472	445	K>E		No	ClinGen Ensembl
CA5129308 rs764835958	445	K>R		No	ClinGen ExAC TOPMed gnomAD
CA374065513 rs1179420135	449	S>N		No	ClinGen gnomAD
CA5129313 rs755413156	454	A>E		No	ClinGen ExAC gnomAD
rs752108585 CA5129312	454	A>T		No	ClinGen ExAC TOPMed gnomAD
CA374065801 rs1424808931	455	E>G		No	ClinGen TOPMed
CA374065825 rs1252562905	459	V>M		No	ClinGen gnomAD
CA374065861 rs1368985053	464	A>E		No	ClinGen TOPMed gnomAD
rs1308956774 CA374065858	464	A>T		No	ClinGen gnomAD
rs1368985053 CA374065863	464	A>V		No	ClinGen TOPMed gnomAD
rs1311618903 CA374065874	466	E>K		No	ClinGen gnomAD
CA374065898 rs1456594752	469	G>C		No	ClinGen gnomAD
rs1456594752 CA374065896	469	G>S		No	ClinGen gnomAD
CA374065946 rs1177842436	472	S>A		No	ClinGen gnomAD
CA196410495 rs367861642	473	T>I		No	ClinGen ESP TOPMed
rs1452257770 CA374065969	474	I>V		No	ClinGen TOPMed
COSM1463667 CA374065986 rs1478970790	475	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5129319 rs757320091	477	R>K		No	ClinGen ExAC gnomAD
CA196410515 rs144234062	478	L>I		No	ClinGen ESP gnomAD
rs1464764269 CA374066059	479	W>*		No	ClinGen gnomAD
CA374066049 rs1291884489	479	W>R		No	ClinGen TOPMed
CA374066077 rs1588117723	480	V>G		No	ClinGen Ensembl
CA374066100 rs1588117770	482	D>A		No	ClinGen Ensembl
rs1350758478 CA374066120	483	P>L		No	ClinGen gnomAD
CA196410532 rs374488921	487	K>R		No	ClinGen ESP TOPMed
CA374066211 rs1288709149	490	P>A		No	ClinGen TOPMed
CA5129322 rs768516000	492	D>N		No	ClinGen ExAC gnomAD
CA5129324 rs747844422	493	N>K		No	ClinGen ExAC TOPMed gnomAD
rs530110027 CA5129323	493	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1316367182 CA374066281	495	A>D		No	ClinGen gnomAD
CA5129326 rs772990600	495	A>T		No	ClinGen ExAC gnomAD
CA196410553 rs139083567	498	F>L		No	ClinGen ESP gnomAD
CA5129328 rs765957710	501	D>N		No	ClinGen ExAC gnomAD
rs775049337 CA5129329	506	T>M		No	ClinGen ExAC TOPMed gnomAD
CA374066483 rs1420824073	509	E>V		No	ClinGen gnomAD
rs1163419889 CA374066515	511	A>T		No	ClinGen gnomAD
rs764366172 CA5129334	514	M>L		No	ClinGen ExAC gnomAD
rs750414936 CA5129355	517	S>C		No	ClinGen ExAC gnomAD
rs781062364 CA5129357	523	S>I		No	ClinGen ExAC gnomAD
rs781062364 CA374067532	523	S>T		No	ClinGen ExAC gnomAD
CA5129359 rs368033232	525	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374067592 rs1379058121	527	I>T		No	ClinGen gnomAD
CA374067599 rs1173298714	528	V>M		No	ClinGen gnomAD
CA374067628 rs1404359481	530	K>R		No	ClinGen gnomAD
rs770647529 CA5129362	532	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1175737848 CA374067662	533	R>C		No	ClinGen gnomAD
rs778612954 CA5129363	533	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778612954 CA196415427	533	R>P		No	ClinGen ExAC TOPMed gnomAD
rs745435224 CA5129364	534	D>N		No	ClinGen ExAC gnomAD
CA5129365 rs142934124	535	R>H		No	ClinGen ESP ExAC gnomAD
CA374067693 rs1233801904	536	V>M		No	ClinGen TOPMed gnomAD
CA196415443 rs1009895513	537	A>G		No	ClinGen TOPMed
CA374067722 rs1202675507	538	L>S		No	ClinGen gnomAD
rs1258353534 CA374067743	540	Q>K		No	ClinGen gnomAD
rs1458802592 CA374067747	540	Q>P		No	ClinGen gnomAD
rs1042016690 CA196415450	542	R>W		No	ClinGen gnomAD
CA374067788 rs1419006172	543	R>Q		No	ClinGen gnomAD
rs77609004 CA196415455	544	E>G		No	ClinGen Ensembl
rs1200122004 CA374067815	545	R>S		No	ClinGen gnomAD
rs1200122004 CA374067814	545	R>S		No	ClinGen gnomAD
CA374067824 rs1466348917	546	I>N		No	ClinGen TOPMed
CA374067832 rs1379464782	547	W>R		No	ClinGen gnomAD
CA5129370 rs368902215	549	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3699778 rs139992553 CA5129371 COSM3699776	549	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA196415478 rs939065975	553	K>E		No	ClinGen TOPMed gnomAD
rs752599925 CA5129375	554	E>*		No	ClinGen ExAC gnomAD
CA374067922 rs752599925	554	E>K		No	ClinGen ExAC gnomAD
rs756080756 CA5129376	555	Q>E		No	ClinGen ExAC gnomAD
CA374067953 rs1453792163	556	Q>*		No	ClinGen gnomAD
CA5129377 rs763992529	557	D>E		No	ClinGen ExAC gnomAD
CA374068006 rs1196290406	560	S>N		No	ClinGen gnomAD
CA5129380 rs541479647	561	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5129382 rs757865096	562	D>E		No	ClinGen ExAC gnomAD
rs1424421938 CA374068083	566	G>C		No	ClinGen gnomAD
CA5129383 rs559770581	567	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769095973 CA5129385 COSM1735635	568	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1295051444 CA374068134	570	P>H		No	ClinGen gnomAD
CA5129388 rs770118199	572	Q>K		No	ClinGen ExAC gnomAD
rs773355674 CA5129389	572	Q>P		No	ClinGen ExAC
CA196415551 rs951353462	574	Q>K		No	ClinGen TOPMed gnomAD
CA5129390 rs763186444	575	V>E		No	ClinGen ExAC gnomAD
CA374068209 rs1588161839	576	T>I		No	ClinGen Ensembl
rs1246046571 CA374068218	578	H>N		No	ClinGen gnomAD
rs994902031 CA196415565	580	Q>E		No	ClinGen TOPMed gnomAD
rs561143825 CA5129393	581	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1358008736 CA374068240	581	A>P		No	ClinGen gnomAD
rs1358008736 CA374068241	581	A>S		No	ClinGen gnomAD
rs561143825 CA5129392	581	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA374068260 rs1264025116	584	P>T		No	ClinGen gnomAD
COSM3750185 CA5129396 rs56170708 COSM3750187	585	G>E	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs753795828 CA5129395	585	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5129397 rs765028592	589	P>L		No	ClinGen ExAC TOPMed gnomAD
CA374068293 rs1366436192	590	E>K		No	ClinGen TOPMed gnomAD
CA374068313 rs1159122341	592	P>L		No	ClinGen gnomAD
rs757998744 CA5129399	592	P>S		No	ClinGen ExAC TOPMed gnomAD
CA196415640 rs936862882	595	D>N		No	ClinGen gnomAD
CA374068331 rs1379514631	595	D>V		No	ClinGen gnomAD
rs936862882 CA374068329	595	D>Y		No	ClinGen gnomAD
CA374068365 rs1202548639	600	P>Q		No	ClinGen gnomAD
rs559169199 CA5129401	601	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5129402 rs754484192	602	T>M		No	ClinGen ExAC TOPMed gnomAD
rs781420468 CA196415672	604	P>L		No	ClinGen gnomAD
CA196415699 rs1041402486	607	A>T		No	ClinGen TOPMed gnomAD
rs532257594 CA5129405	607	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374068419 rs1443737916	609	S>C		No	ClinGen gnomAD
CA374068417 rs1443737916	609	S>F		No	ClinGen gnomAD
CA5129409 rs201471342	612	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588195549 CA374050005	613	D>A		No	ClinGen Ensembl
rs991765250 CA196384580	613	D>E		No	ClinGen TOPMed
rs1279443239 CA374050004	613	D>H		No	ClinGen gnomAD
CA374050003 rs1279443239	613	D>N		No	ClinGen gnomAD
CA5129411 rs759727110	614	S>G		No	ClinGen ExAC gnomAD
CA374050036 rs1588195623	615	T>P		No	ClinGen Ensembl
rs761801783 CA5129414	618	S>R		No	ClinGen ExAC gnomAD
CA374050177 rs1259767232	619	G>C		No	ClinGen TOPMed gnomAD
rs865972199 CA196384595	619	G>D		No	ClinGen Ensembl
rs1259767232 CA374050179	619	G>S		No	ClinGen TOPMed gnomAD
rs555364985 CA5129416	620	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5129417 rs762644931	622	S>F		No	ClinGen ExAC gnomAD
CA5129418 COSM1111233 rs766123567	623	T>A	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1489416219 CA374050268	623	T>I		No	ClinGen gnomAD
rs766123567 CA374050257	623	T>P		No	ClinGen ExAC TOPMed gnomAD
CA5129419 COSM242264 rs751183257	624	V>M	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA374050384 rs1427910235	627	D>A		No	ClinGen gnomAD
CA374050379 rs1427910235	627	D>G		No	ClinGen gnomAD
CA5129420 COSM1463671 rs553438989	628	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA196384641 rs553438989	628	S>W		No	ClinGen ExAC gnomAD
CA374050438 rs1422128182	629	Q>L		No	ClinGen gnomAD
rs756580132 CA5129423	630	S>R		No	ClinGen ExAC
CA374050452 rs1588196015	630	S>T		No	ClinGen Ensembl
rs778015276 CA5129424	631	S>N		No	ClinGen ExAC gnomAD
rs749725985 CA5129425	632	Q>*		No	ClinGen ExAC gnomAD
rs771165568 CA374050554	634	S>I		No	ClinGen ExAC TOPMed gnomAD
rs771165568 CA5129426	634	S>N		No	ClinGen ExAC TOPMed gnomAD
rs772309092 CA5129429	635	V>A		No	ClinGen ExAC gnomAD
CA5129428 rs567119992	635	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1280379164 CA374050587	636	M>I		No	ClinGen gnomAD
CA374050581 rs1287995811	636	M>T		No	ClinGen TOPMed
CA5129430 rs112939660	636	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376724876 CA5129431	638	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129433 rs773020128	639	S>Y		No	ClinGen ExAC gnomAD
CA5129435 rs766065890	640	L>I		No	ClinGen ExAC
CA196384718 rs1051362149	641	A>D		No	ClinGen TOPMed
CA5129438 rs4744201	642	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374050671 rs1267590507	642	D>N		No	ClinGen TOPMed gnomAD
CA374050689 rs545230085	643	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5129439 rs545230085	643	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5129441 rs778381714	644	A>V		No	ClinGen ExAC gnomAD
CA5129444 rs779380022	645	P>L		No	ClinGen ExAC TOPMed gnomAD
rs373908573 CA5129443	645	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA374050725 rs1365473071	646	S>F		No	ClinGen TOPMed gnomAD
rs780408060 CA5129447	646	S>P		No	ClinGen ExAC
rs1365473071 CA374050722	646	S>Y		No	ClinGen TOPMed gnomAD
rs193180811 CA5129448	647	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374050731 rs1564091144	647	P>S		No	ClinGen Ensembl
rs1381014018 CA374050766	651	V>A		No	ClinGen gnomAD
rs1284583587 CA374050764	651	V>L		No	ClinGen gnomAD
CA5129449 rs768589799	653	S>G		No	ClinGen ExAC gnomAD
CA374050779 rs1354297324	653	S>T		No	ClinGen TOPMed gnomAD
rs561344476 CA5129451	655	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1045588032 CA196384817	655	P>L		No	ClinGen gnomAD
rs561344476 CA374050794	655	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561344476 CA374050796	655	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs55672370 CA374050822	657	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA196384835 rs1001292941	658	E>K		No	ClinGen TOPMed gnomAD
rs1238433268 CA374050846	659	G>E		No	ClinGen gnomAD
rs1182110149 CA374050856	660	P>L		No	ClinGen gnomAD
CA374050851 rs1446781997	660	P>S		No	ClinGen gnomAD
rs1420834975 CA374050861	661	V>A		No	ClinGen gnomAD
CA5129453 COSM1111235 rs774069447	661	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5129456 rs774973233	663	P>L		No	ClinGen ExAC TOPMed gnomAD
CA196384882 rs774973233	663	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA374050894 rs1408537885	664	Q>H		No	ClinGen TOPMed gnomAD
rs1588197508 CA374050891	664	Q>R		No	ClinGen Ensembl
rs1475882551 CA374050902	665	S>N		No	ClinGen gnomAD
CA374050913 rs1314088435	666	L>P		No	ClinGen gnomAD
rs865994207 CA196384916	667	P>A		No	ClinGen TOPMed gnomAD
rs1241011130 CA374050923	667	P>L		No	ClinGen gnomAD
rs865994207 CA196384918	667	P>T		No	ClinGen TOPMed gnomAD
CA374050931 rs376197419	668	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129458 rs376197419	668	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200707158 CA374050942	670	G>R		No	ClinGen gnomAD
CA374050979 rs1416742672	673	Q>R		No	ClinGen TOPMed gnomAD
rs200647566 CA5129460	676	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1202247284 CA374051020	677	A>T		No	ClinGen gnomAD
CA5129488 rs148233715	680	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745753130 CA5129490	682	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1588219456 CA374051801	683	V>G		No	ClinGen Ensembl
rs775077443 CA5129492	683	V>L		No	ClinGen ExAC gnomAD
rs775077443 CA374051777	683	V>M		No	ClinGen ExAC gnomAD
CA374051816 rs1588219515	684	G>D		No	ClinGen Ensembl
CA374051837 rs1430517719	685	S>P		No	ClinGen gnomAD
rs1052556994 CA196387972	686	V>L		No	ClinGen TOPMed gnomAD
CA374051887 rs1409130903	687	P>A		No	ClinGen TOPMed
CA5129493 rs201601244	687	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129495 rs776341036	690	A>P		No	ClinGen ExAC TOPMed gnomAD
CA374051956 rs776341036	690	A>T		No	ClinGen ExAC TOPMed gnomAD
CA374051960 rs1423502571	690	A>V		No	ClinGen gnomAD
rs867000241 CA196387993	691	C>Y		No	ClinGen TOPMed gnomAD
CA5129496 rs375452200	693	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1326167284 CA374052068	695	L>F		No	ClinGen gnomAD
CA5129500 rs766771815	696	Q>K		No	ClinGen ExAC gnomAD
rs1294639059 CA374052174	698	H>P		No	ClinGen gnomAD
CA5129501 rs751816455	700	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751816455 CA374052244	700	P>R		No	ClinGen ExAC TOPMed gnomAD
rs56062309 CA5129503	702	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374052331 rs1260811596	703	A>T		No	ClinGen gnomAD
rs756206792 CA5129506	704	M>I		No	ClinGen ExAC TOPMed gnomAD
rs777786933 CA5129507	705	S>I		No	ClinGen ExAC gnomAD
CA5129509 rs758273088	707	A>T		No	ClinGen ExAC gnomAD
rs780027800 CA5129510	707	A>V		No	ClinGen ExAC gnomAD
CA5129511 rs746844510	709	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1006496028 CA196388112	710	L>P		No	ClinGen gnomAD
CA5129512 rs142258857	711	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142258857 CA374052688	711	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA196388120 rs972420207	712	P>L		No	ClinGen TOPMed
CA5129516 rs772782009	716	P>L		No	ClinGen ExAC
rs1307822967 CA374052817	716	P>S		No	ClinGen TOPMed gnomAD
rs758731119 CA196388121	718	P>L		No	ClinGen gnomAD
CA374052910 rs1213690475	718	P>S		No	ClinGen gnomAD
rs763571624 CA5129517	719	T>M		No	ClinGen ExAC TOPMed gnomAD
CA374052961 rs763571624	719	T>R		No	ClinGen ExAC TOPMed gnomAD
CA374053010 rs1177666549	721	P>S		No	ClinGen gnomAD
rs1354899315 CA374053044	722	G>D		No	ClinGen gnomAD
rs1409568653 CA374053099	725	A>P		No	ClinGen TOPMed gnomAD
CA374053152 rs1157707926	726	P>L		No	ClinGen gnomAD
CA374053147 rs200579206	726	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5129519 rs200579206	726	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1377902143 CA374053189	727	P>A		No	ClinGen gnomAD
CA5129520 rs759861954	727	P>R		No	ClinGen ExAC gnomAD
CA374053216 rs1404302479	728	G>R		No	ClinGen gnomAD
CA374053211 rs1404302479	728	G>S		No	ClinGen gnomAD
rs1323065415 CA374053491	732	P>L		No	ClinGen gnomAD
CA196388616 rs934292147	732	P>S		No	ClinGen TOPMed
CA5129533 rs769514351	733	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1215005695 CA374053501	733	P>S		No	ClinGen gnomAD
rs1291909055 CA374053585	736	Q>H		No	ClinGen gnomAD
CA5129536 rs770446487	737	P>L		No	ClinGen ExAC TOPMed gnomAD
CA374053642 rs1475532735	739	P>L		No	ClinGen gnomAD
CA5129541 rs761013525	741	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1366703835 CA374053698	742	Q>E		No	ClinGen gnomAD
rs776801664 CA5129543	745	A>V		No	ClinGen ExAC gnomAD
CA5129544 rs761846474	746	P>A		No	ClinGen ExAC gnomAD
rs761846474 CA374053758	746	P>S		No	ClinGen ExAC gnomAD
CA5129546 rs751484889	748	P>L		No	ClinGen ExAC gnomAD
CA5129545 rs765312661	748	P>S		No	ClinGen ExAC gnomAD
CA374053809 rs755973305	749	V>L		No	ClinGen ExAC TOPMed gnomAD
rs755973305 CA5129550	749	V>M		No	ClinGen ExAC TOPMed gnomAD
rs375787610 CA374053838	750	V>A		No	ClinGen TOPMed gnomAD
rs375787610 CA196388759	750	V>G		No	ClinGen TOPMed gnomAD
CA5129551 rs777610809	751	P>A		No	ClinGen ExAC gnomAD
rs1172304392 CA374053859	751	P>L		No	ClinGen gnomAD
CA5129552 rs748950838	752	L>F		No	ClinGen ExAC gnomAD
COSM4164105 rs756745814 COSM4164107 CA5129553	752	L>P	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5129556 rs746370442	753	Q>L		No	ClinGen ExAC gnomAD
CA5129555 rs746370442	753	Q>R		No	ClinGen ExAC gnomAD
rs747413805 CA5129558	754	P>L		No	ClinGen ExAC gnomAD
CA5129559 rs747413805	754	P>Q		No	ClinGen ExAC gnomAD
CA5129557 rs775970634	754	P>S		No	ClinGen ExAC gnomAD
rs1203516934 CA374053961	755	V>A		No	ClinGen TOPMed
CA5129561 rs771924917	755	V>I		No	ClinGen ExAC gnomAD
rs1023392838 CA196388833	756	P>L		No	ClinGen gnomAD
rs1390033162 CA374053987	756	P>S		No	ClinGen gnomAD
rs1390033162 CA374053977	756	P>T		No	ClinGen gnomAD
CA5129566 rs762929680	757	P>H		No	ClinGen ExAC TOPMed gnomAD
CA5129565 rs762929680	757	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5129567 rs762929680	757	P>R		No	ClinGen ExAC TOPMed gnomAD
rs773285161 CA5129564	757	P>T		No	ClinGen ExAC gnomAD
CA5129571 rs41278262	758	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000951100 rs41278262 CA5129570	758	H>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5129573 rs745449856	758	H>P		No	ClinGen ExAC TOPMed gnomAD
CA5129572 rs41278262	758	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757872385 CA5129574	761	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1224939316 CA374054131	762	Y>H		No	ClinGen gnomAD
rs747463485 CA5129576	763	L>V		No	ClinGen ExAC gnomAD
CA5129577 rs769040898	768	Q>*		No	ClinGen ExAC
rs1232053034 CA374054270	769	V>M		No	ClinGen TOPMed gnomAD
rs748332420 CA5129579	771	A>S		No	ClinGen ExAC gnomAD
CA374054361 rs1406140570	772	P>L		No	ClinGen TOPMed gnomAD
CA374054355 rs1406140570	772	P>R		No	ClinGen TOPMed gnomAD
CA5129580 rs770113272	772	P>S		No	ClinGen ExAC gnomAD
rs540855871 CA5129582	773	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs562107985 CA5129583	777	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA374054447 rs1407961378	777	P>T		No	ClinGen gnomAD
rs760619944 CA5129585	779	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA196388974 rs910653028	780	M>V		No	ClinGen Ensembl
CA5129586 rs763992426	781	P>L		No	ClinGen ExAC gnomAD
CA374054581 rs1240638997	781	P>T		No	ClinGen gnomAD
rs1328055509 CA374054603	782	Q>*		No	ClinGen gnomAD
CA5129587 rs370579014	783	A>V		No	ClinGen ESP ExAC gnomAD
CA374054675 rs1564101942	784	P>H		No	ClinGen Ensembl
rs750021037 CA5129590	785	L>P		No	ClinGen ExAC gnomAD
rs757923609 CA5129591	786	Q>P		No	ClinGen ExAC gnomAD
CA5129592 rs138191048	787	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129595 rs529611845	788	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1231185214 CA374054808	789	A>V		No	ClinGen gnomAD
rs748613677 CA5129596	790	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1468084475 CA374054872	792	P>L		No	ClinGen gnomAD
CA374054852 rs1431681641	792	P>T		No	ClinGen gnomAD
CA5129598 rs778108051	793	P>L		No	ClinGen ExAC gnomAD
rs147449636 CA5129621	795	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs776651382 CA5129623	796	P>L		No	ClinGen ExAC gnomAD
rs772021798 CA374055966	796	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5129622 rs772021798	796	P>T		No	ClinGen ExAC TOPMed gnomAD
CA374055988 rs556344613	797	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5129627 rs556344613	797	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs138405197 CA5129626	797	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA374056008 rs1190738253	800	V>I		No	ClinGen gnomAD
CA5129629 rs773963569	801	V>E		No	ClinGen ExAC
CA5129628 COSM1555602 rs766089132	801	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA374056069 rs1417453813	802	P>A		No	ClinGen TOPMed gnomAD
CA374056071 rs1417453813	802	P>S		No	ClinGen TOPMed gnomAD
rs149576658 CA5129630	803	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs943330164 CA196390407	803	P>R		No	ClinGen TOPMed
rs766890996 CA5129631	805	T>M		No	ClinGen ExAC TOPMed gnomAD
CA374056118 rs1588241492	805	T>P		No	ClinGen Ensembl
CA374056136 rs1386659851	806	P>S		No	ClinGen gnomAD
CA5129633 rs577942921	808	A>V		No	ClinGen ExAC gnomAD
CA374056199 rs1365114099	810	I>F		No	ClinGen gnomAD
CA374056198 rs1365114099	810	I>V		No	ClinGen gnomAD
CA5129636 rs757662230	811	D>N		No	ClinGen ExAC TOPMed gnomAD
rs367764185 CA5129639	812	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129638 rs746036582	812	G>S		No	ClinGen ExAC TOPMed gnomAD
rs367764185 CA374056243	812	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129640 rs779930274	813	L>F		No	ClinGen ExAC gnomAD
CA5129641 rs748131140	813	L>H		No	ClinGen ExAC TOPMed gnomAD
CA374056267 rs748131140	813	L>P		No	ClinGen ExAC TOPMed gnomAD
CA374056283 rs1461726118	814	P>L		No	ClinGen gnomAD
rs148781404 CA5129643	815	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374056352 rs1159182093	817	L>F		No	ClinGen gnomAD
CA374056393 rs1451097424	819	D>A		No	ClinGen gnomAD
CA5129646 rs774016520	821	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1454015536 CA374056436	822	T>A		No	ClinGen gnomAD
rs1339318270 CA374056450	822	T>I		No	ClinGen gnomAD
CA5129649 rs572678262	823	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5129650 rs370035213	823	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129653 rs542691515	825	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374056489 rs542691515	825	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA196390488 rs542691515	825	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1235725050 CA374056533	828	V>A		No	ClinGen gnomAD
CA374056528 rs10761203	828	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs10761203 VAR_057114 CA5129655 COSM4164109	828	V>M	thyroid [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5129656 rs758491161	830	P>T		No	ClinGen ExAC TOPMed gnomAD
rs955801462 CA196390497	832	Q>H		No	ClinGen Ensembl
rs751657139 CA5129658	838	V>M		No	ClinGen ExAC gnomAD
CA196390505 rs994967843	839	I>M		No	ClinGen TOPMed gnomAD
rs1194107155 CA374056694	841	P>L		No	ClinGen TOPMed
CA374056692 rs1429518746	841	P>S		No	ClinGen gnomAD
CA374056704 rs1179024789	842	S>N		No	ClinGen gnomAD
rs749177394 CA5129661	844	A>T		No	ClinGen ExAC TOPMed gnomAD
rs770746174 CA5129662	845	A>V		No	ClinGen ExAC TOPMed gnomAD
CA196390517 rs868830108	847	L>P		No	ClinGen Ensembl
rs1408041818 CA374056748	847	L>V		No	ClinGen gnomAD
rs760150231 CA5129667	848	P>H		No	ClinGen ExAC gnomAD
rs760150231 CA5129668	848	P>L		No	ClinGen ExAC gnomAD
CA374056757 rs1420321793	848	P>T		No	ClinGen gnomAD
CA5129670 rs146411184	849	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1412045758 CA374056767	849	P>H		No	ClinGen TOPMed
rs146411184 CA5129671	849	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146411184 CA5129669	849	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5129673 rs763371702	850	A>P		No	ClinGen ExAC gnomAD
CA5129674 rs766550880	850	A>V		No	ClinGen ExAC gnomAD
CA5129676 rs755076404	853	A>D		No	ClinGen ExAC TOPMed gnomAD
CA374056818 rs755076404	853	A>V		No	ClinGen ExAC TOPMed gnomAD
rs781211295 CA5129677	854	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5129679 rs757132351	858	A>V		No	ClinGen ExAC gnomAD
CA5129680 rs778814132	859	V>L		No	ClinGen ExAC gnomAD
rs1588243177 CA374056884	860	K>T		No	ClinGen Ensembl
CA5129681 rs745686038	862	P>S		No	ClinGen ExAC gnomAD
rs1238936686 CA374056906	863	H>P		No	ClinGen TOPMed
rs771875411 CA5129682	863	H>Q		No	ClinGen ExAC gnomAD
rs45534637 CA5129685	865	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5129684 rs45534637	865	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs45534637 CA5129686	865	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761393185 CA5129687	867	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1414905895 CA374056932	868	P>S		No	ClinGen TOPMed gnomAD
rs566892018 CA5129689	870	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1057440433 CA196390639	871	M>V		No	ClinGen TOPMed gnomAD
CA5129690 rs763277254	872	P>L		No	ClinGen ExAC gnomAD
CA374056963 rs1332847221	873	C>Y		No	ClinGen TOPMed
CA5129691 rs766718861	874	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1012875647 CA196390645	874	R>W		No	ClinGen TOPMed gnomAD
CA374056983 rs1218873699	876	I>M		No	ClinGen gnomAD
rs1406256336 CA374056989	877	V>G		No	ClinGen TOPMed
rs1477932498 CA374056995	878	P>L		No	ClinGen gnomAD
CA374056990 rs1245733869	878	P>S		No	ClinGen gnomAD
CA5129692 rs774470262	880	A>T		No	ClinGen ExAC TOPMed gnomAD
rs759690956 CA5129693	881	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1380978389 CA374057027	884	I>V		No	ClinGen TOPMed
CA374057050 rs1180636893	888	A>P		No	ClinGen TOPMed
CA374057054 rs1349496535	888	A>V		No	ClinGen gnomAD
CA5129696 rs756151615	889	V>I		No	ClinGen ExAC TOPMed gnomAD
CA374057062 rs1246007132	890	A>T		No	ClinGen TOPMed
CA374057065 rs1362959439	890	A>V		No	ClinGen gnomAD
CA5129698 rs750322431	891	P>S		No	ClinGen ExAC gnomAD
rs375671882 CA5129699	892	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129701 rs746654332 COSM226654	894	V>M	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1311040114 CA374057093	896	A>T		No	ClinGen TOPMed
rs1463955816 CA374057097	896	A>V		No	ClinGen gnomAD
rs780988307 CA5129703	898	S>T		No	ClinGen ExAC gnomAD
CA374057110 rs1413432217	899	I>V		No	ClinGen gnomAD
CA5129705 rs769408143	900	H>N		No	ClinGen ExAC gnomAD
CA5129706 rs773617136	900	H>R		No	ClinGen ExAC TOPMed gnomAD
rs749765021 CA5129707	901	S>T		No	ClinGen ExAC gnomAD
rs771208175 CA5129708	902	A>T		No	ClinGen ExAC gnomAD
rs1588244585 CA374057135	903	V>A		No	ClinGen Ensembl
rs759885169 CA5129710	903	V>M		No	ClinGen ExAC TOPMed gnomAD
CA374057142 rs1445257344	904	A>V		No	ClinGen gnomAD
RCV000956732 CA5129712 rs112172724	908	G>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5129713 rs760763940	912	Y>H		No	ClinGen ExAC gnomAD
CA374057202 rs1259635607	914	A>P		No	ClinGen gnomAD
rs764191432 CA5129714	914	A>V		No	ClinGen ExAC TOPMed gnomAD
CA374057212 rs1244359063	916	F>I		No	ClinGen TOPMed gnomAD
CA374057213 rs1244359063	916	F>L		No	ClinGen TOPMed gnomAD
CA374057237 rs1444633564	919	M>T		No	ClinGen TOPMed gnomAD
CA196390896 rs112922230	920	A>P		No	ClinGen ExAC TOPMed gnomAD
rs112922230 CA5129716	920	A>T		No	ClinGen ExAC TOPMed gnomAD
CA374057246 rs1236925669	920	A>V		No	ClinGen gnomAD
rs367895218 CA196390903	921	P>S		No	ClinGen gnomAD
rs755613061 CA5129722	924	V>I		No	ClinGen ExAC gnomAD
rs749776402 CA5129724	925	P>L		No	ClinGen ExAC gnomAD
CA5129723 rs777273757	925	P>S		No	ClinGen ExAC gnomAD
rs771529851 CA5129725	926	P>S		No	ClinGen ExAC TOPMed gnomAD
rs376769805 CA5129727	928	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129729 rs368860360	928	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129728 rs368860360	928	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs760817315 CA374057289	929	H>D		No	ClinGen ExAC TOPMed gnomAD
rs760817315 CA5129730	929	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1588245278 CA374057290	929	H>P		No	ClinGen Ensembl
rs760817315 CA196390971	929	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA374057298 rs1588245336	930	H>P		No	ClinGen Ensembl
CA374057297 rs1156537850	930	H>Y		No	ClinGen TOPMed gnomAD
CA5129731 rs142235667	931	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs761795097 CA5129733	932	V>A		No	ClinGen ExAC gnomAD
CA374057309 rs1278497665	932	V>L		No	ClinGen gnomAD
rs751521929 CA5129735	933	Q>*		No	ClinGen ExAC gnomAD
CA374057363 rs1588245530	938	T>P		No	ClinGen Ensembl
rs767382624 CA5129738	941	Q>K		No	ClinGen ExAC gnomAD
rs752405071 CA5129739	942	P>L		No	ClinGen ExAC TOPMed gnomAD
CA374057442 rs1397099202	945	P>R		No	ClinGen gnomAD
rs1588245686 CA374057446	946	P>S		No	ClinGen Ensembl
CA374057468 rs1395135788	948	P>S		No	ClinGen gnomAD
rs1305638116 CA374057487	949	T>I		No	ClinGen gnomAD
CA5129744 rs756694717	951	P>H		No	ClinGen ExAC gnomAD
rs756694717 CA374057504	951	P>L		No	ClinGen ExAC gnomAD
rs779411462 CA5129747	953	Q>E		No	ClinGen ExAC gnomAD
rs746330883 CA5129748	953	Q>H		No	ClinGen ExAC gnomAD
rs746330883 CA374057534	953	Q>H		No	ClinGen ExAC gnomAD
CA5129751 rs772427719	955	V>M		No	ClinGen ExAC TOPMed gnomAD
rs780336076 CA5129753	957	P>L		No	ClinGen ExAC gnomAD
CA374057573 rs1416269683	957	P>S		No	ClinGen TOPMed
CA5129754 rs747358742	958	P>L		No	ClinGen ExAC TOPMed gnomAD
CA374057626 rs1265145472	961	T>M		No	ClinGen TOPMed
rs1588246351 CA374057619	961	T>P		No	ClinGen Ensembl
CA374057641 rs1256045700	962	L>R		No	ClinGen TOPMed
rs561348672 CA374057658	964	P>H		No	ClinGen ExAC gnomAD
rs561348672 CA5129762	964	P>R		No	ClinGen ExAC gnomAD
rs1394489894 CA374057694	967	V>A		No	ClinGen TOPMed
rs1388110078 CA374057708	968	L>W		No	ClinGen gnomAD
rs576465472 CA5129767	969	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs576465472 CA374057722	969	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5129768 rs376859965	970	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374057730 rs376859965	970	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs753378784 CA5129769	971	Q>H		No	ClinGen ExAC gnomAD
CA374057737 rs1295539679	971	Q>P		No	ClinGen gnomAD
rs1245585074 CA374057751	972	P>H		No	ClinGen gnomAD
rs1245585074 CA374057754	972	P>L		No	ClinGen gnomAD
CA5129771 rs200398928	973	T>I		No	ClinGen ExAC TOPMed gnomAD
VAR_059773 CA5129774 rs10114908	974	R>L		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs758959446 CA5129773	974	R>W		No	ClinGen ExAC TOPMed gnomAD
rs747440664 CA5129775	976	P>T		No	ClinGen ExAC gnomAD
rs1588247385 CA374057815	977	Q>P		No	ClinGen Ensembl
CA374057851 rs1564109730	979	V>A		No	ClinGen Ensembl
CA374057839 rs1564109694	979	V>M		No	ClinGen Ensembl
CA5129780 rs748279453	980	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5129779 rs10121188	980	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770000402 CA5129781	981	P>S		No	ClinGen ExAC gnomAD
CA5129782 rs191106035	982	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374057891 rs191106035	982	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374057878 rs1564109866	982	P>S		No	ClinGen Ensembl
rs1588247845 CA374057904	983	Q>P		No	ClinGen Ensembl
rs1314862267 CA374057920	984	P>S		No	ClinGen gnomAD
CA5129786 rs772206746	985	M>L		No	ClinGen ExAC
CA5129788 rs760537559	985	M>T		No	ClinGen ExAC TOPMed gnomAD
COSM4139680 COSM4139678 rs772206746 CA5129787	985	M>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs763753290 CA5129789	986	L>V		No	ClinGen ExAC gnomAD
rs1268966824 CA374057972	987	P>R		No	ClinGen gnomAD
CA374057991 rs1398497043	988	P>L		No	ClinGen TOPMed
rs1206570371 CA374058022	990	P>S		No	ClinGen gnomAD
CA5129792 rs764854612	991	V>M		No	ClinGen ExAC gnomAD
rs374401258 CA5129793	992	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA374058066 rs374401258	992	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465129659 CA374058073	993	P>L		No	ClinGen gnomAD
rs757872299 CA5129794	993	P>S		No	ClinGen ExAC gnomAD
CA5129796 rs141835681	994	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141835681 CA5129795	994	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374058086 rs1379131388	995	Q>E		No	ClinGen TOPMed
CA5129798 rs528559797	996	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5129799 rs748423242	997	A>T		No	ClinGen ExAC gnomAD
CA5129800 rs368330463	997	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5129801 rs571503860	1000	V>M		No	ClinGen ExAC TOPMed gnomAD
rs749441971 CA5129802	1001	R>C		No	ClinGen ExAC TOPMed gnomAD
rs531255333 COSM1463679 CA5129803	1001	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs531255333 CA374058185	1001	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5129804 rs531255333	1001	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5129805 rs746885099	1002	P>L		No	ClinGen ExAC gnomAD
rs768521889 CA5129806	1004	P>S		No	ClinGen ExAC gnomAD
CA5129807 rs776341917	1005	L>F		No	ClinGen ExAC TOPMed gnomAD
rs761567201 CA5129808	1005	L>P		No	ClinGen ExAC TOPMed gnomAD
rs534223956 CA196391359	1006	Q>L		No	ClinGen Ensembl
rs1254143032 CA374058284	1008	H>N		No	ClinGen gnomAD
CA374058288 rs1588248878	1008	H>P		No	ClinGen Ensembl
rs371712607 CA5129810	1010	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374058314 rs1482672086	1010	P>S		No	ClinGen gnomAD
CA5129811 rs762463227	1012	Q>*		No	ClinGen ExAC gnomAD
rs1407658626 CA374058368	1013	A>G		No	ClinGen TOPMed gnomAD
rs1180492678 CA374058361	1013	A>T		No	ClinGen gnomAD
rs200235983 CA5129812	1016	A>V		No	ClinGen ExAC TOPMed gnomAD
CA196391389 rs927253057	1017	A>G		No	ClinGen Ensembl
CA374058399 rs1178927425	1017	A>S		No	ClinGen TOPMed gnomAD
rs752138228 CA5129813	1018	T>A		No	ClinGen ExAC gnomAD
rs755389757 CA5129814	1020	G>R		No	ClinGen ExAC gnomAD
CA5129815 rs768043843	1021	S>N		No	ClinGen ExAC gnomAD
CA374059549 rs1468451740	1023	I>S		No	ClinGen gnomAD
CA374059557 rs1189818194	1024	L>P		No	ClinGen TOPMed gnomAD
rs757605124 CA5129840	1025	L>F		No	ClinGen ExAC TOPMed gnomAD
CA374059583 rs1162832013	1026	G>D		No	ClinGen TOPMed
rs1473059497 CA374059592	1027	H>P		No	ClinGen TOPMed
CA374059595 rs1473059497	1027	H>R		No	ClinGen TOPMed
rs1447798067 CA374059609	1028	P>L		No	ClinGen gnomAD
CA374059605 rs1179318786	1028	P>S		No	ClinGen TOPMed
CA5129841 rs779167661	1029	A>D		No	ClinGen ExAC gnomAD
rs1407241127 CA374059661	1031	Y>C		No	ClinGen gnomAD
CA374059649 rs1374280231	1031	Y>H		No	ClinGen gnomAD
CA5129843 rs758493519	1032	A>T		No	ClinGen ExAC gnomAD
rs370046914 CA374059727	1034	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs545534825 CA374059732	1035	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545534825 CA5129845	1035	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545534825 CA5129846	1035	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1111243 rs749057800 CA5129848	1036	A>T	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA374059752 rs1226219733	1037	A>T		No	ClinGen TOPMed gnomAD
rs1328293265 CA374059759	1037	A>V		No	ClinGen TOPMed gnomAD
rs558340161 CA374059773	1038	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776176292 CA5129854	1040	P>L		No	ClinGen ExAC gnomAD
rs776176292 CA5129853	1040	P>R		No	ClinGen ExAC gnomAD
CA374059821 rs1564115884	1041	T>S		No	ClinGen Ensembl
CA5129856 rs754297681	1042	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5129857 rs138786545	1043	P>L		No	ClinGen ESP ExAC TOPMed
rs765437518 CA5129858	1044	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5129859 rs149410685	1046	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129861 rs780141303	1048	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5129862 rs780141303	1048	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1588268378 CA374059945	1049	V>G		No	ClinGen Ensembl
CA5129865 rs370654793	1051	S>L		No	ClinGen ESP ExAC gnomAD
rs745454786 CA5129868	1052	P>L		No	ClinGen ExAC TOPMed gnomAD
CA374059974 rs1489691484	1052	P>T		No	ClinGen TOPMed
CA374059998 rs1334279074	1053	P>R		No	ClinGen gnomAD
CA374059992 rs1217091141	1053	P>T		No	ClinGen gnomAD
CA5129870 rs775192714	1054	L>V		No	ClinGen ExAC TOPMed gnomAD
rs769356906 CA5129872	1055	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769356906 CA374060035	1055	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs765572040 CA5129875	1057	V>M		No	ClinGen ExAC gnomAD
rs910138837 CA196394429	1060	P>L		No	ClinGen TOPMed
CA5129876 rs773337451	1061	A>V		No	ClinGen ExAC TOPMed gnomAD
rs149572974 CA5129878	1062	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374060144 rs1343803699	1062	A>V		No	ClinGen TOPMed
rs755043851 CA5129880	1063	P>S		No	ClinGen ExAC TOPMed gnomAD
CA374060154 rs1564116428	1064	E>K		No	ClinGen Ensembl
rs1351757731 CA374060187	1067	P>L		No	ClinGen TOPMed
CA374060190 rs1257080204	1068	Q>E		No	ClinGen gnomAD
CA374060211 rs1473005878	1069	F>S		No	ClinGen gnomAD
rs1409438365 CA374060224	1070	P>R		No	ClinGen gnomAD
rs1173137147 CA374060250	1072	S>C		No	ClinGen gnomAD
rs764073353 CA5129881	1072	S>P		No	ClinGen ExAC gnomAD
rs1400095721 CA374060259	1073	L>P		No	ClinGen TOPMed
CA5129882 rs144225266	1074	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374060279 rs1370801699	1075	T>A		No	ClinGen gnomAD
CA5129883 rs148621666	1075	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA196394463 rs778725047	1078	A>D		No	ClinGen ExAC gnomAD
CA5129884 rs778725047	1078	A>V		No	ClinGen ExAC gnomAD
CA5129887 rs779851302	1080	V>G		No	ClinGen ExAC gnomAD
CA374060360 rs34758729	1080	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5129886 rs34758729	1080	V>M		No	ClinGen ExAC TOPMed gnomAD
CA374060388 rs1232195044	1081	Q>H		No	ClinGen gnomAD
CA196394477 rs372882100	1082	S>C		No	ClinGen ESP
CA374060425 rs1483521040	1083	V>A		No	ClinGen gnomAD
CA5129888 rs746577281	1083	V>M		No	ClinGen ExAC gnomAD
rs777283490 CA5129890	1084	P>S		No	ClinGen ExAC gnomAD
CA5129891 rs562514097	1085	T>P		No	ClinGen 1000Genomes ExAC
CA5129892 rs142051806	1086	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5129893 rs773674976	1087	T>I		No	ClinGen ExAC gnomAD
rs773674976 CA374060488	1087	T>S		No	ClinGen ExAC gnomAD
CA374060520 rs1564117010	1090	L>I		No	ClinGen Ensembl
rs766652547 CA5129895	1091	L>M		No	ClinGen ExAC gnomAD
rs774539325 CA5129896	1094	A>S		No	ClinGen ExAC gnomAD
CA5129897 rs759623428	1094	A>V		No	ClinGen ExAC gnomAD
rs753746242 CA5129899	1097	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5129900 rs753746242	1097	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA5129898 rs151176657	1097	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1220074880 CA374060668	1099	P>S		No	ClinGen TOPMed
rs1020572158 CA196394563	1100	G>D		No	ClinGen TOPMed gnomAD
CA5129903 rs369169882	1101	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129904 rs779867666	1102	P>H		No	ClinGen ExAC gnomAD
rs1230679002 CA374060720	1103	G>R		No	ClinGen gnomAD
CA196394587 rs62571739	1103	G>V		No	ClinGen Ensembl
rs754565876 CA5129906	1105	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5129907 rs780800566	1106	S>N		No	ClinGen ExAC gnomAD
rs1588270008 CA374060770	1106	S>R		No	ClinGen Ensembl
CA196394598 rs528319781	1107	P>L		No	ClinGen 1000Genomes TOPMed
rs747588374 CA5129908	1109	P>A		No	ClinGen ExAC gnomAD
rs1192978891 CA374060832	1109	P>L		No	ClinGen gnomAD
CA5129909 rs770372887	1110	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5129910 rs28654199	1112	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374060883 rs28654199	1112	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372487751 CA5129911	1114	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA374060925 rs1235353751	1115	V>A		No	ClinGen gnomAD
rs1185366306 CA374060914	1115	V>M		No	ClinGen TOPMed
rs535721257 CA5129913	1117	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535721257 CA374060957	1117	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5129914 rs759711330	1118	V>I		No	ClinGen ExAC gnomAD
rs1588270365 CA374060974	1119	Q>P		No	ClinGen Ensembl
rs367669560 CA5129937	1121	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs147603907 CA5129938	1122	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1370203948 CA374061990	1123	A>P		No	ClinGen TOPMed
rs1421220429 CA374062019	1125	Q>E		No	ClinGen gnomAD
rs1157621858 CA374062027	1126	D>N		No	ClinGen gnomAD
CA5129941 rs572454752	1128	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs147863169 CA5129942	1128	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs572454752 CA5129940	1128	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs556820279 CA374062118	1129	P>H		No	ClinGen ExAC TOPMed gnomAD
rs556820279 CA5129944	1129	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5129946 rs561358736	1130	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1306280951 CA374062149	1131	L>F		No	ClinGen gnomAD
CA5129947 rs371124872	1132	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129949 rs375388653	1133	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374062251 rs1252095608	1134	S>N		No	ClinGen TOPMed
rs748296178 CA5129973	1138	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs769935104 CA5129974	1139	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1370155542 CA374062620	1140	G>V		No	ClinGen gnomAD
CA5129977 rs372278307	1142	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5129978 rs372278307	1142	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA374062683 rs1168487226	1143	V>F		No	ClinGen TOPMed
CA374062695 rs1476252989	1143	V>G		No	ClinGen TOPMed
rs1299110127 CA374062751	1146	G>V		No	ClinGen gnomAD
rs760517382 CA5129979	1149	L>P		No	ClinGen ExAC gnomAD
CA374062841 rs1213665998	1150	S>I		No	ClinGen gnomAD
rs763716470 CA5129980	1152	S>I		No	ClinGen ExAC TOPMed gnomAD
CA374062882 rs763716470	1152	S>N		No	ClinGen ExAC TOPMed gnomAD
CA374062947 rs1215934470	1155	G>V		No	ClinGen gnomAD
rs763421272 CA374062958	1156	A>D		No	ClinGen ExAC gnomAD
CA5129984 rs149146046	1156	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs763421272 CA5129985	1156	A>V		No	ClinGen ExAC gnomAD
CA374062976 rs1474450245	1157	F>S		No	ClinGen gnomAD
rs963378376 CA374062996	1158	G>A		No	ClinGen TOPMed gnomAD
rs963378376 CA196395854	1158	G>E		No	ClinGen TOPMed gnomAD
CA5129987 rs751933733	1158	G>R		No	ClinGen ExAC gnomAD
CA374063004 rs1162449847	1159	G>E		No	ClinGen TOPMed gnomAD
CA374063000 rs1476104521	1159	G>R		No	ClinGen gnomAD
rs1162449847 CA374063007	1159	G>V		No	ClinGen TOPMed gnomAD
CA374063011 rs755354258	1160	G>C		No	ClinGen ExAC gnomAD
rs1457661207 CA374063013	1160	G>D		No	ClinGen gnomAD
CA5129988 rs755354258	1160	G>S		No	ClinGen ExAC gnomAD
CA374063039 rs1342971785	1162	L>M		No	ClinGen gnomAD
CA374063048 rs1429393582	1162	L>P		No	ClinGen gnomAD
rs1380801504 CA374063075	1164	G>V		No	ClinGen gnomAD
CA196395865 rs752899767	1168	R>*		No	ClinGen ExAC TOPMed
CA5129991 rs756289430	1168	R>Q		No	ClinGen ExAC gnomAD
rs1264009132 CA374063172	1170	H>Q		No	ClinGen TOPMed
CA374063201 rs1244526040	1172	R>C		No	ClinGen TOPMed
CA374063205 COSM1187763 rs1334801526	1172	R>H	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA196395880 rs936346312	1173	R>M		No	ClinGen Ensembl
CA196395898 rs919184433	1175	T>R		No	ClinGen TOPMed
rs1445410798 CA374063267	1176	R>H		No	ClinGen TOPMed gnomAD
rs1445410798 CA374063262	1176	R>L		No	ClinGen TOPMed gnomAD
rs368337984 CA5129993	1177	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771940274 CA5129994	1177	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5129996 rs746795514	1178	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5129998 rs776300458	1180	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA196395919 rs1009525299	1180	R>W		No	ClinGen gnomAD
rs928488315 CA196395935	1181	Q>K		No	ClinGen Ensembl
CA374063415 rs1288362275	1186	R>Q		No	ClinGen TOPMed
CA374063413 rs1412492869	1186	R>W		No	ClinGen gnomAD
rs762521772 CA5130002	1187	P>T		No	ClinGen ExAC gnomAD
CA196395987 rs571774775	1188	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs1443371421 CA374063440	1188	R>W		No	ClinGen TOPMed gnomAD
CA374063681 rs1170042016	1198	G>E		No	ClinGen gnomAD
CA196396188 rs993116944	1198	G>R		No	ClinGen gnomAD
rs760068117 CA5130025	1199	D>N		No	ClinGen ExAC gnomAD
rs1564123296 CA374063738	1202	V>A		No	ClinGen Ensembl
rs1588287508 CA374063771	1204	C>G		No	ClinGen Ensembl
CA374063822 rs1588287522	1207	E>G		No	ClinGen Ensembl
COSM1625251 CA374063836 COSM3664481 rs1178358976	1208	T>M	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs142000432 CA5130027	1212	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1374678198 CA374063958	1215	T>A		No	ClinGen TOPMed
rs761113133 CA5130028	1215	T>N		No	ClinGen ExAC gnomAD
CA374064021 rs1327279352	1219	D>N		No	ClinGen gnomAD
rs1214091204 CA374064114	1226	D>N		No	ClinGen TOPMed gnomAD
rs1410804855 CA374064154	1229	A>T		No	ClinGen gnomAD
CA196396212 rs1053859316	1229	A>V		No	ClinGen Ensembl
COSM198734 rs765314674 CA5130032	1230	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs767453804 CA374065044	1234	E>D		No	ClinGen ExAC TOPMed gnomAD
CA374065039 rs1455472823	1234	E>G		No	ClinGen gnomAD
rs1364812937 CA374065028	1234	E>K		No	ClinGen gnomAD
rs939451105 CA196398812	1236	D>E		No	ClinGen gnomAD
CA5130054 rs752561971	1241	A>T		No	ClinGen ExAC TOPMed gnomAD
rs755933247 CA5130055	1241	A>V		No	ClinGen ExAC gnomAD
COSM3413825 rs1413873680 COSM3413823 CA374065166	1242	E>K	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA196398848 rs916571113	1243	R>Q		No	ClinGen TOPMed gnomAD
rs756969544 CA5130058	1243	R>W		No	ClinGen ExAC gnomAD
CA5130059 rs778424023	1245	T>M		No	ClinGen ExAC TOPMed gnomAD
rs745425922 CA5130060	1247	I>V		No	ClinGen ExAC gnomAD
CA374065245 rs1254888212	1248	E>D		No	ClinGen gnomAD
CA196398869 COSM1111249 rs1044383028	1248	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA374065250 rs1484898284	1249	Q>K		No	ClinGen gnomAD
CA196398887 rs935482415	1252	D>N		No	ClinGen Ensembl
rs61753900 CA5130062	1253	V>F		No	ClinGen ExAC TOPMed gnomAD
rs61753900 CA5130063	1253	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1251940618 CA374065320	1254	M>I		No	ClinGen gnomAD
CA5130065 rs777094287	1257	A>E		No	ClinGen ExAC gnomAD
CA374065358 rs777094287	1257	A>V		No	ClinGen ExAC gnomAD
CA374065406 rs1265396294	1260	M>I		No	ClinGen TOPMed
CA196398896 rs1052579271	1260	M>V		No	ClinGen Ensembl
CA5130068 rs142945595	1262	S>G		No	ClinGen ESP ExAC TOPMed
CA374065429 rs1175769125	1262	S>T		No	ClinGen gnomAD
rs1588312617 CA374065497	1268	D>A		No	ClinGen Ensembl
CA196398929 rs891537075	1268	D>N		No	ClinGen TOPMed gnomAD
rs891537075 CA374065496	1268	D>Y		No	ClinGen TOPMed gnomAD
CA5130073 rs763903293	1269	R>C		No	ClinGen ExAC TOPMed gnomAD
rs34045106 CA196398940	1269	R>H		No	ClinGen TOPMed gnomAD
rs1588312687 CA374065522	1270	G>V		No	ClinGen Ensembl
rs756986842 CA5130075	1271	S>F		No	ClinGen ExAC TOPMed gnomAD
rs550515838 CA5130077	1272	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA374065558 rs1403573896	1273	P>S		No	ClinGen TOPMed gnomAD
CA196398962 rs1006786788	1274	G>E		No	ClinGen Ensembl
rs1481798704 CA374065578	1275	T>I		No	ClinGen gnomAD
CA5130078 rs758007920	1277	P>L		No	ClinGen ExAC TOPMed gnomAD
CA374065593 rs1305304876	1278	P>A		No	ClinGen TOPMed
CA5130080 rs746487297	1279	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA374065614 rs1393559359	1281	S>N		No	ClinGen gnomAD
rs568884073 CA5130081	1281	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs150701047 CA5130082	1283	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130083 rs372358037	1283	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs558079515 CA5130085	1284	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763112913 CA5130086	1285	L>P		No	ClinGen ExAC gnomAD
rs1300598443 CA374065644	1286	G>V		No	ClinGen gnomAD
rs149250469 CA5130088	1288	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374065653 rs149250469	1288	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374065684 rs1160633433	1290	E>D		No	ClinGen gnomAD
rs1343116430 CA374065694	1292	R>*		No	ClinGen TOPMed gnomAD
CA5130118 rs144424183	1292	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1255612225 CA374065715	1295	Q>R		No	ClinGen TOPMed
rs756654439 CA5130120	1297	N>S		No	ClinGen ExAC TOPMed gnomAD
rs145181072 CA5130122	1298	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA374065745 rs1286392023	1300	V>M		No	ClinGen TOPMed gnomAD
rs578035612 CA5130127	1304	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA196399258 rs1054249873	1305	V>I		No	ClinGen TOPMed
rs1401968112 CA374065940	1308	T>A		No	ClinGen TOPMed gnomAD
CA374065945 rs1221516581	1308	T>S		No	ClinGen TOPMed
rs747100309 CA374065949	1309	G>R		No	ClinGen ExAC TOPMed
rs747100309 CA5130146	1309	G>W		No	ClinGen ExAC TOPMed
CA374065981 rs1331460367	1311	R>S		No	ClinGen gnomAD
CA374066035 rs1307104483	1316	C>Y		No	ClinGen TOPMed
CA5130148 rs777890656	1317	P>L		No	ClinGen ExAC
CA196400849 rs986539754	1318	V>G		No	ClinGen TOPMed
rs749186042 CA5130149	1318	V>L		No	ClinGen ExAC TOPMed gnomAD
CA374066051 rs749186042	1318	V>M		No	ClinGen ExAC TOPMed gnomAD
CA374066092 rs1588320362	1321	H>P		No	ClinGen Ensembl
rs759370993 CA5130152	1321	H>Q		No	ClinGen ExAC gnomAD
rs759370993 CA5130153	1321	H>Q		No	ClinGen ExAC gnomAD
rs377755699 CA5130155	1323	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs753326828 CA5130157	1324	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201521936 CA5130156	1324	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130160 rs184376039	1325	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758731541 CA5130162	1326	A>V		No	ClinGen ExAC gnomAD
CA5130163 rs780145570	1327	P>T		No	ClinGen ExAC TOPMed gnomAD
rs549169030 CA5130164	1328	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1293681423 CA374066183	1329	S>C		No	ClinGen TOPMed
COSM1111253 CA5130166 rs781468852	1330	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs755133004 CA5130165	1330	S>P		No	ClinGen ExAC gnomAD
rs781468852 CA374066192	1330	S>W		No	ClinGen ExAC gnomAD
rs1385088184 CA374066201	1331	P>L		No	ClinGen gnomAD
CA5130168 rs140367852	1331	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1240612829 CA374066208	1332	P>S		No	ClinGen TOPMed
CA374066216 rs1564134301	1333	L>V		No	ClinGen Ensembl
rs760269476 CA5130173	1337	S>F		No	ClinGen ExAC gnomAD
CA374066280 rs1353648825	1338	L>P		No	ClinGen gnomAD
rs776194136 CA5130176	1339	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5130175 rs776194136	1339	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs754175082 CA196400991	1339	P>S		No	ClinGen gnomAD
rs1261513108 CA374066314	1341	E>D		No	ClinGen TOPMed gnomAD
rs751947488 CA5130181	1342	A>D		No	ClinGen ExAC gnomAD
CA5130180 rs766720613	1342	A>T		No	ClinGen ExAC TOPMed gnomAD
CA374066320 rs751947488	1342	A>V		No	ClinGen ExAC gnomAD
rs1588321363 CA374066328	1343	S>N		No	ClinGen Ensembl
CA374066346 rs1307743988	1344	Q>H		No	ClinGen TOPMed gnomAD
rs1237325318 CA374066398	1345	G>D		No	ClinGen gnomAD
rs193154147 CA5130205	1347	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779955121 CA5130206	1348	R>G		No	ClinGen ExAC TOPMed gnomAD
CA374066453 rs1443474519	1350	L>H		No	ClinGen TOPMed
CA374066462 rs1281281214	1351	T>I		No	ClinGen TOPMed
CA374066458 rs1281281214	1351	T>N		No	ClinGen TOPMed
rs1588322888 CA374066454	1351	T>P		No	ClinGen Ensembl
CA196401185 rs754705644	1353	P>L		No	ClinGen ExAC gnomAD
rs754705644 CA5130208	1353	P>R		No	ClinGen ExAC gnomAD
rs890474921 CA196401176	1353	P>S		No	ClinGen TOPMed gnomAD
rs928558907 CA196401189	1354	C>G		No	ClinGen TOPMed
rs1251784707 CA374066481	1354	C>Y		No	ClinGen gnomAD
CA374066519 rs1329646417	1357	W>C		No	ClinGen gnomAD
CA374066506 rs1176842453	1357	W>R		No	ClinGen TOPMed gnomAD
CA374066507 rs1176842453	1357	W>R		No	ClinGen TOPMed gnomAD
CA5130209 rs78743606 COSM99216	1358	R>C	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA5130210 rs555093767	1358	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374066538 rs1175715204	1359	R>S		No	ClinGen TOPMed gnomAD
rs1360992834 CA374066547	1360	A>G		No	ClinGen TOPMed
rs769311608 CA5130211	1360	A>T		No	ClinGen ExAC gnomAD
rs1298747731 CA374066570	1362	C>W		No	ClinGen gnomAD
CA374066564 rs1465303984	1362	C>Y		No	ClinGen gnomAD
rs1398534425 CA374066575	1363	G>E		No	ClinGen gnomAD
CA196401242 rs973558831	1364	A>T		No	ClinGen gnomAD
rs143160734 CA5130212	1365	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA374066611 rs1371044259	1367	L>P		No	ClinGen gnomAD
CA374066618 rs1298668242	1368	S>F		No	ClinGen gnomAD
rs562834032 CA5130214	1369	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1310482205 CA374066622	1369	L>S		No	ClinGen gnomAD
rs747933780 CA196401264	1371	S>A		No	ClinGen gnomAD
rs747933780 CA374066633	1371	S>P		No	ClinGen gnomAD
rs1459462602 CA374066639	1372	A>G		No	ClinGen gnomAD
CA196401270 rs759984113	1372	A>S		No	ClinGen ExAC gnomAD
CA5130216 rs759984113	1372	A>T		No	ClinGen ExAC gnomAD
CA374066655 rs1237676846	1374	S>*		No	ClinGen gnomAD
rs1468928247 CA374066665	1376	Q>P		No	ClinGen gnomAD
rs1468928247 CA374066666	1376	Q>R		No	ClinGen gnomAD
rs116057316 CA5130219	1379	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs116057316 CA5130218	1379	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764220448 CA5130220	1380	P>A		No	ClinGen ExAC gnomAD
CA374066691 rs764220448	1380	P>S		No	ClinGen ExAC gnomAD
CA374066696 rs1432445485	1381	P>A		No	ClinGen gnomAD
rs1398541416 CA374068447	1382	D>G		No	ClinGen gnomAD
rs754008750 CA5130221	1382	D>H		No	ClinGen ExAC TOPMed gnomAD
CA5130238 rs776651162	1384	A>V		No	ClinGen ExAC gnomAD
rs1356761179 CA374068464	1385	P>S		No	ClinGen TOPMed
rs750482436 CA5130241	1386	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs750482436 CA5130242	1386	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs765256130 CA5130240	1386	Y>H		No	ClinGen ExAC gnomAD
rs62571756 CA196414323	1387	K>R		No	ClinGen Ensembl
rs1321147689 CA374068482	1388	D>H		No	ClinGen gnomAD
rs757676079 CA196414335	1389	Q>H		No	ClinGen Ensembl
CA196414331 rs1046984880	1389	Q>R		No	ClinGen TOPMed
CA5130243 rs767349005	1390	L>Q		No	ClinGen ExAC gnomAD
CA5130245 rs376666483	1391	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs41296061 CA5130246	1392	S>L		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA374068507 rs41296061	1392	S>W		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs753392664 CA5130249	1394	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1473719076 CA374068518	1394	E>K		No	ClinGen gnomAD
rs1473719076 CA374068517	1394	E>Q		No	ClinGen gnomAD
CA374068529 rs1412468095	1395	Q>H		No	ClinGen gnomAD
CA5130250 rs756849313	1396	P>L		No	ClinGen ExAC gnomAD
CA374068553 rs778613463	1399	L>V		No	ClinGen ExAC gnomAD
CA196414380 rs867634177	1401	S>G		No	ClinGen TOPMed
rs12336575 CA5130255	1402	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1179746106 CA374068570	1402	Q>K		No	ClinGen TOPMed
CA5130253 rs12350787	1402	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130254 rs12350787	1402	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1332354710 CA374068606	1407	Q>R		No	ClinGen TOPMed
rs138300841 CA5130257	1408	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA196414420 rs943673314	1411	S>N		No	ClinGen Ensembl
CA5130259 rs769975098	1411	S>R		No	ClinGen ExAC gnomAD
CA5130260 rs773350361	1412	N>I		No	ClinGen ExAC gnomAD
CA374068636 rs773350361	1412	N>S		No	ClinGen ExAC gnomAD
CA374068637 rs773350361	1412	N>T		No	ClinGen ExAC gnomAD
CA374068655 rs1215679000	1415	G>E		No	ClinGen gnomAD
CA374068663 rs1278862927	1416	A>V		No	ClinGen TOPMed gnomAD
CA5130262 rs767501381	1417	P>L		No	ClinGen ExAC gnomAD
CA374068666 rs1237681448	1417	P>S		No	ClinGen TOPMed
CA374068673 rs1330098204	1418	P>L		No	ClinGen TOPMed
rs775220794 CA5130263	1418	P>S		No	ClinGen ExAC TOPMed gnomAD
CA374068685 rs1179951688	1420	P>L		No	ClinGen gnomAD
rs1470253569 CA374068680	1420	P>S		No	ClinGen gnomAD
rs1378146243 CA374068686	1421	L>M		No	ClinGen gnomAD
CA5130264 rs760545874	1422	A>D		No	ClinGen ExAC gnomAD
rs41312202 CA196414438	1423	P>S		No	ClinGen Ensembl
rs753662833 CA374068719	1426	P>L		No	ClinGen ExAC gnomAD
CA5130266 rs753662833	1426	P>R		No	ClinGen ExAC gnomAD
CA196414439 rs975061363	1427	P>L		No	ClinGen gnomAD
rs757008837 CA5130267	1428	V>L		No	ClinGen ExAC gnomAD
rs764975653 CA5130269	1437	A>P		No	ClinGen ExAC gnomAD
CA5130270 rs539257984	1438	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA196414455 rs921168335	1438	P>L		No	ClinGen gnomAD
CA5130271 rs539257984	1438	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539257984 CA196414450	1438	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130272 rs201694131	1439	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1588457423 CA374068857	1440	T>P		No	ClinGen Ensembl
CA196414458 rs960941815	1440	T>S		No	ClinGen TOPMed
CA196414461 rs1048336500	1442	T>I		No	ClinGen gnomAD
rs1588457475 CA374068881	1442	T>P		No	ClinGen Ensembl
rs747425171 CA5130273	1443	M>I		No	ClinGen ExAC gnomAD
CA374068889 rs1263646809	1443	M>V		No	ClinGen gnomAD
rs755491247 CA5130274	1444	P>A		No	ClinGen ExAC gnomAD
rs781453722 CA5130275	1445	E>Q		No	ClinGen ExAC gnomAD
rs146475760 CA5130278	1446	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146475760 CA5130277	1446	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369934402 CA196414466	1446	P>S		No	ClinGen Ensembl
rs749370747 CA5130279	1447	A>V		No	ClinGen ExAC gnomAD
rs969567232 CA196414503	1450	T>A		No	ClinGen TOPMed
CA374068989 rs1281667097	1452	S>I		No	ClinGen TOPMed
CA5130282 rs760577773	1453	Q>R		No	ClinGen ExAC gnomAD
CA5130283 rs369404489	1454	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130284 rs369404489	1454	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130285 rs761644484	1454	A>V		No	ClinGen ExAC gnomAD
CA374069028 rs1192437986	1456	G>A		No	ClinGen gnomAD
CA374069045 rs1280664499	1458	G>E		No	ClinGen TOPMed
rs1446040515 CA374069061	1460	P>S		No	ClinGen gnomAD
CA374069082 rs1324530625	1462	G>R		No	ClinGen gnomAD
rs750056272 CA5130287	1463	L>P		No	ClinGen ExAC TOPMed gnomAD
rs148380402 CA196414533	1464	T>I		No	ClinGen ESP TOPMed gnomAD
CA374069123 rs1318276144	1466	E>K		No	ClinGen gnomAD
COSM379482 CA5130288 rs141554117	1468	E>K	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5130289 rs141554117	1468	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130290 rs373618412	1469	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373618412 CA5130291	1469	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA374069154 rs373618412	1469	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130293 rs748522186	1471	Q>R		No	ClinGen ExAC gnomAD
rs1488483013 CA374069188	1473	L>V		No	ClinGen Ensembl
rs140893973 CA5130295	1474	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140893973 CA5130294	1474	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130298 rs573333947	1478	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA196414614 rs921083288	1478	E>K		No	ClinGen TOPMed
rs745953816 CA5130299	1480	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1465218688 CA374069262	1480	P>T		No	ClinGen TOPMed gnomAD
rs1346407915 CA374069280	1481	L>R		No	ClinGen TOPMed
CA5130300 rs768532688	1482	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1380111578 CA374069287	1482	A>V		No	ClinGen gnomAD
CA5130301 rs537811306	1485	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs766054171 CA5130306	1487	V>A		No	ClinGen ExAC gnomAD
rs762557499 CA374069334	1487	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5130305 rs762557499	1487	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1192664146 CA374069350	1490	L>V		No	ClinGen Ensembl
rs1353581684 CA374069356	1491	A>G		No	ClinGen gnomAD
CA5130308 rs751092151	1491	A>P		No	ClinGen ExAC gnomAD
rs751092151 CA5130307	1491	A>T		No	ClinGen ExAC gnomAD
rs374328058 CA5130310	1495	P>L		No	ClinGen ExAC gnomAD
rs778159825 CA5130312	1496	A>G		No	ClinGen ExAC gnomAD
CA196414659 rs975213786	1497	P>A		No	ClinGen gnomAD
rs754198927 CA5130313	1497	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5130316 rs779181916	1498	E>K		No	ClinGen ExAC TOPMed gnomAD
rs779181916 CA5130315	1498	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs772239785 CA5130317	1499	A>V		No	ClinGen ExAC gnomAD
CA374069405 rs1162962343	1500	A>S		No	ClinGen gnomAD
rs781301066 CA5130318	1501	S>L		No	ClinGen ExAC gnomAD
CA5130319 rs748146749	1502	T>I		No	ClinGen ExAC gnomAD
CA374069432 rs1396555982	1504	D>E		No	ClinGen TOPMed gnomAD
CA374069428 rs1359612561	1504	D>N		No	ClinGen TOPMed gnomAD
CA374069426 rs1359612561	1504	D>Y		No	ClinGen TOPMed gnomAD
rs753285529 CA196414721	1505	A>T		No	ClinGen TOPMed gnomAD
CA374069438 rs1338197093	1505	A>V		No	ClinGen gnomAD
rs1309605135 CA374069441	1506	S>C		No	ClinGen gnomAD
rs769826711 CA5130320	1507	A>D		No	ClinGen ExAC TOPMed gnomAD
rs769826711 CA374069451	1507	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5130321 rs773211641	1509	R>G		No	ClinGen ExAC TOPMed gnomAD
CA374069474 rs1485713744	1511	P>A		No	ClinGen gnomAD
CA196414730 rs866837596	1511	P>H		No	ClinGen Ensembl
rs1201534677 CA374069490	1514	P>S		No	ClinGen gnomAD
rs762797831 CA5130322	1515	P>A		No	ClinGen ExAC gnomAD
CA5130324 rs547984904	1515	P>L		No	ClinGen ExAC TOPMed gnomAD
rs547984904 CA5130323	1515	P>R		No	ClinGen ExAC TOPMed gnomAD
rs762797831 CA374069494	1515	P>T		No	ClinGen ExAC gnomAD
CA5130325 rs758997109	1516	A>V		No	ClinGen ExAC gnomAD
rs1381197850 CA374069504	1517	P>A		No	ClinGen TOPMed gnomAD
rs1381197850 CA374069503	1517	P>S		No	ClinGen TOPMed gnomAD
CA5130326 rs766961055	1518	E>K		No	ClinGen ExAC gnomAD
CA5130328 rs761209810	1521	P>L		No	ClinGen ExAC gnomAD
rs577622915 CA5130329	1522	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757583408 CA5130331 COSM248351	1524	G>R	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs147174238 CA374069556	1525	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130333 rs147174238	1525	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130332 rs779037190	1525	T>S		No	ClinGen ExAC gnomAD
rs1237526466 CA374069559	1526	P>A		No	ClinGen gnomAD
CA374069560 rs1237526466	1526	P>S		No	ClinGen gnomAD
rs1307994390 CA374069566	1527	Q>*		No	ClinGen gnomAD
CA196414787 rs566402327	1529	A>T		No	ClinGen gnomAD
CA374069590 rs1203542715	1531	G>S		No	ClinGen TOPMed gnomAD
CA374069603 rs2169756	1532	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130337 rs769914533	1533	P>R		No	ClinGen ExAC TOPMed gnomAD
CA5130338 rs777710522	1534	A>V		No	ClinGen ExAC TOPMed gnomAD
rs749037840 CA5130339	1535	P>L		No	ClinGen ExAC gnomAD
CA374069614 rs1433615279	1535	P>S		No	ClinGen gnomAD
CA5130341 rs560781574	1536	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1401851345 CA374069640	1539	A>V		No	ClinGen gnomAD
CA5130344 rs377420109	1540	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130345 rs760163042	1540	A>V		No	ClinGen ExAC gnomAD
CA5130346 rs765177703	1541	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1183086963 CA374069653	1542	G>E		No	ClinGen TOPMed
CA374069658 rs1378132051	1543	A>T		No	ClinGen gnomAD
rs982475278 CA196414849	1543	A>V		No	ClinGen TOPMed
rs370831209 CA374069662	1544	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs370831209 CA5130348	1544	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1259189467 CA374069681	1547	A>S		No	ClinGen gnomAD
CA5130349 rs765683015	1547	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1196814789 CA374069685	1548	T>A		No	ClinGen TOPMed gnomAD
CA374069689 rs1251017209	1548	T>I		No	ClinGen gnomAD
CA374069684 rs1196814789	1548	T>P		No	ClinGen TOPMed gnomAD
CA374069697 rs1488911362	1550	Q>K		No	ClinGen gnomAD
rs1193093115 CA374069705	1551	L>F		No	ClinGen gnomAD
CA374069704 rs1193093115	1551	L>I		No	ClinGen gnomAD
rs374398950 CA5130350	1551	L>R		No	ClinGen ESP ExAC gnomAD
CA5130351 rs758763576	1552	P>L		No	ClinGen ExAC gnomAD
CA374069712 rs758763576	1552	P>Q		No	ClinGen ExAC gnomAD
rs1479950546 CA374069710	1552	P>S		No	ClinGen gnomAD
rs751704673 CA5130353	1554	P>S		No	ClinGen ExAC gnomAD
rs570121640 CA196414878	1555	P>S		No	ClinGen gnomAD
CA196414884 rs1008996455	1557	G>A		No	ClinGen TOPMed
rs755044922 CA5130354	1558	P>L		No	ClinGen ExAC gnomAD
CA374069744 rs1349917015	1558	P>S		No	ClinGen gnomAD
rs543183135 CA196414889	1559	T>A		No	ClinGen Ensembl
rs371709081 CA374069753	1560	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs371709081 CA5130356	1560	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA374069760 rs1279450926	1561	P>H		No	ClinGen gnomAD
rs543371304 CA374069766	1562	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs543371304 CA5130359	1562	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA5130358 rs543371304	1562	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1294984088 CA374069786	1565	P>L		No	ClinGen TOPMed gnomAD
rs775064287 CA5130361	1566	S>L		No	ClinGen ExAC TOPMed gnomAD
CA374069801 rs1418101239	1568	L>P		No	ClinGen TOPMed
rs775981850 CA5130364	1570	S>L		No	ClinGen ExAC gnomAD
rs367803413 CA5130366	1571	D>Y		No	ClinGen ESP ExAC gnomAD
CA374069826 rs1185813340	1572	G>E		No	ClinGen gnomAD
rs561550244 CA5130367	1575	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1162335997 CA374069848	1576	P>S		No	ClinGen gnomAD
rs766717124 CA5130369	1577	P>T		No	ClinGen ExAC gnomAD
CA5130372 rs767683269	1579	V>G		No	ClinGen ExAC TOPMed gnomAD
CA5130371 rs755126864	1579	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1240490813 CA374069872	1580	G>C		No	ClinGen TOPMed
CA5130373 rs543751901	1581	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA196414986 rs983813302	1583	D>N		No	ClinGen Ensembl
CA374069900 rs1270060523	1584	S>T		No	ClinGen gnomAD
rs1230090402 CA374069930	1588	S>I		No	ClinGen gnomAD
rs116858127 CA374069945	1590	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130375 rs374560680	1591	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130376 rs745677063	1594	R>W		No	ClinGen ExAC gnomAD
rs1223912426 CA374069996	1599	Q>E		No	ClinGen TOPMed
rs896466760 CA196415020	1602	V>A		No	ClinGen TOPMed
CA374070019 rs1214986248	1602	V>M		No	ClinGen TOPMed gnomAD
rs1379013896 CA374070024	1603	P>S		No	ClinGen TOPMed
rs1483978711 CA374070035	1604	T>I		No	ClinGen gnomAD
rs1179586394 CA374070036	1605	S>T		No	ClinGen gnomAD
CA374070050 rs371890649	1607	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs961264808 CA196415024	1607	A>S		No	ClinGen Ensembl
rs371890649 CA5130379	1607	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768164824 CA5130380	1611	T>A		No	ClinGen ExAC gnomAD
CA196415045 rs369979422	1611	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130381 rs369979422	1611	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA374070091 rs1451020445	1614	E>D		No	ClinGen TOPMed
rs747600904 CA5130382	1615	V>M		No	ClinGen ExAC TOPMed gnomAD
CA196415051 rs915335546	1617	D>N		No	ClinGen gnomAD
CA374070105 rs915335546	1617	D>Y		No	ClinGen gnomAD
CA196415054 rs1042388031	1621	T>N		No	ClinGen Ensembl
rs771370673 CA374070156	1624	P>L		No	ClinGen ExAC gnomAD
rs771370673 CA5130386	1624	P>R		No	ClinGen ExAC gnomAD
CA5130387 rs774830728	1626	R>T		No	ClinGen ExAC gnomAD
rs759875797 CA5130388	1628	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5130389 rs767626606	1629	Q>H		No	ClinGen ExAC gnomAD
CA374070192 rs1313850518	1630	P>R		No	ClinGen gnomAD
rs376965605 CA5130390	1631	R>C		No	ClinGen ExAC TOPMed gnomAD
rs376965605 CA5130391	1631	R>G		No	ClinGen ExAC TOPMed gnomAD
rs765224623 CA5130392	1631	R>H		No	ClinGen ExAC TOPMed gnomAD
CA374070209 rs1180196563	1633	E>D		No	ClinGen gnomAD
CA374070211 rs1235966163	1634	V>F		No	ClinGen gnomAD
rs751353082 CA5130397	1636	G>E		No	ClinGen ExAC TOPMed gnomAD
CA5130396 rs372738488	1636	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130401 rs7855532	1638	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747701224 CA374070236	1638	D>H		No	ClinGen ExAC TOPMed gnomAD
rs747701224 CA5130400	1638	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA374070242 rs1371396531	1639	L>V		No	ClinGen TOPMed
CA374070246 rs1466201919	1640	A>T		No	ClinGen gnomAD
rs1588462319 CA374070249	1640	A>V		No	ClinGen Ensembl
rs778449894 CA5130402	1642	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5130403 rs749856282	1643	P>S		No	ClinGen ExAC gnomAD
CA5130405 rs774920599	1644	V>L		No	ClinGen ExAC gnomAD
CA374070267 rs774920599	1644	V>M		No	ClinGen ExAC gnomAD
CA374070286 rs1221624618	1647	E>K		No	ClinGen gnomAD
CA5130406 rs759804565	1648	A>S		No	ClinGen ExAC gnomAD
CA5130407 rs759804565	1648	A>T		No	ClinGen ExAC gnomAD
CA5130408 rs377198058	1648	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5130410 rs764208652	1650	S>L		No	ClinGen ExAC TOPMed gnomAD
rs527465776 CA5130411	1652	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130412 rs762946990	1652	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762946990 CA374070317	1652	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766292016 CA5130413	1654	Q>R		No	ClinGen ExAC gnomAD
CA374070352 rs1564178077	1658	P>T		No	ClinGen Ensembl
rs1197967483 CA374070359	1659	L>S		No	ClinGen TOPMed gnomAD
CA5130428 rs768862739	1661	E>D		No	ClinGen ExAC gnomAD
CA374070392 rs1360880790	1662	K>R		No	ClinGen gnomAD
rs1316058694 CA374070397	1663	S>P		No	ClinGen gnomAD
CA5130429 rs376292698	1664	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219348244 CA374070409	1665	L>M		No	ClinGen TOPMed
rs761824909 CA5130430	1665	L>P		No	ClinGen ExAC TOPMed gnomAD
rs761824909 CA374070411	1665	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA374070418 rs1285640668	1666	A>V		No	ClinGen gnomAD
CA374070420 rs1244732972	1667	P>A		No	ClinGen gnomAD
rs559384615 CA5130432	1668	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130433 rs370635742	1669	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs767269008 CA5130434	1671	A>T		No	ClinGen ExAC gnomAD
rs976069855 CA196415349	1671	A>V		No	ClinGen TOPMed gnomAD
CA374070447 rs1163110742	1672	V>A		No	ClinGen gnomAD
CA374070445 rs548722669	1672	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130437 rs548722669	1672	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1380695128 CA374070451	1673	M>V		No	ClinGen gnomAD
rs776146443 CA196415355	1675	Q>E		No	ClinGen Ensembl
CA374070469 rs1172641804	1675	Q>R		No	ClinGen gnomAD
rs761334827 CA196415360	1677	T>M		No	ClinGen TOPMed gnomAD
rs1396143648 CA374070489	1678	S>F		No	ClinGen gnomAD
CA5130439 rs34650214	1681	M>T		No	ClinGen ExAC TOPMed gnomAD
CA374070503 rs1451476686	1681	M>V		No	ClinGen gnomAD
rs867904400 CA196415364	1683	A>T		No	ClinGen Ensembl
CA5130457 rs764702352	1684	E>D		No	ClinGen ExAC gnomAD
CA374070546 rs1345461311	1685	S>L		No	ClinGen TOPMed
rs758887307 CA5130459	1686	S>C		No	ClinGen ExAC gnomAD
CA5130460 rs193186713	1687	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA374070559 rs1433484436	1688	R>K		No	ClinGen gnomAD
CA374070565 rs1427097236	1689	S>G		No	ClinGen gnomAD
rs1479847818 CA374070598	1693	Y>C		No	ClinGen TOPMed gnomAD
CA5130462 rs755297605	1696	D>V		No	ClinGen ExAC gnomAD
CA5130463 rs781418490	1699	Q>R		No	ClinGen ExAC gnomAD
CA5130465 rs769976831	1701	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5130467 rs749371134	1702	S>L		No	ClinGen ExAC
rs1344134916 CA374070701	1703	D>Y		No	ClinGen gnomAD
CA5130468 rs569229585	1704	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1223387227 CA374070713	1704	S>P		No	ClinGen gnomAD
rs760576973 CA5130470	1705	H>L		No	ClinGen ExAC gnomAD
CA5130472 rs151006917	1708	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374070780 rs1266458463 COSM1463693	1710	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM3765474 COSM3765472 CA5130474 rs140544829	1710	V>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs749916513 CA5130475	1711	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749916513 CA374070784	1711	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1160543247 CA374070848	1713	D>V		No	ClinGen gnomAD
rs144189997 CA5130500	1714	V>A		No	ClinGen ESP ExAC gnomAD
CA374070852 rs1588482814	1714	V>I		No	ClinGen Ensembl
rs754041375 CA5130501	1716	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1339400890 CA374070881	1717	F>V		No	ClinGen gnomAD
rs146583678 CA5130502	1718	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA374070893 rs1288387856	1718	V>L		No	ClinGen gnomAD
rs1588482944 CA374070909	1719	R>S		No	ClinGen Ensembl
rs141279663 CA5130503	1720	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141279663 CA196416923	1720	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130506 rs553306223	1722	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574743998 CA5130507	1722	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1251188355 CA374070950	1724	E>*		No	ClinGen TOPMed
rs1315092937 CA374070957	1724	E>D		No	ClinGen gnomAD
rs769585025 CA5130508	1725	P>T		No	ClinGen ExAC gnomAD
CA374070978 rs1291197976	1726	T>I		No	ClinGen TOPMed gnomAD
CA374070994 rs1462213527	1728	R>W		No	ClinGen gnomAD
rs150247631 CA5130509	1729	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242128447 CA374071020	1730	G>C		No	ClinGen gnomAD
CA374071063 rs749013927	1734	G>A		No	ClinGen ExAC TOPMed gnomAD
CA5130511 rs749013927	1734	G>E		No	ClinGen ExAC TOPMed gnomAD
CA5130512 rs770489101	1735	E>D		No	ClinGen ExAC TOPMed gnomAD
rs138860409 CA5130513	1737	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374071101 rs1218839852	1738	A>T		No	ClinGen TOPMed gnomAD
CA374071123 rs1588483434	1740	P>A		No	ClinGen Ensembl
rs935991145 CA196417044	1740	P>L		No	ClinGen Ensembl
CA196417053 rs1010720230	1741	P>L		No	ClinGen TOPMed gnomAD
CA5130517 rs375916312	1742	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369976830 CA374071159	1743	S>I		No	ClinGen gnomAD
rs774838551 CA5130520	1745	M>I		No	ClinGen ExAC TOPMed gnomAD
rs542096735 CA374071184	1745	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542096735 CA5130519	1745	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1370830077 CA374071178	1745	M>V		No	ClinGen TOPMed gnomAD
rs1325138153 CA374071197	1746	G>D		No	ClinGen gnomAD
CA374071207 rs1201205357	1747	T>I		No	ClinGen gnomAD
CA374071217 rs1250605687	1748	V>G		No	ClinGen TOPMed
rs750536386 CA5130522	1750	G>D		No	ClinGen ExAC gnomAD
rs1290095481 CA374071229	1750	G>S		No	ClinGen TOPMed
rs1206112361 CA374071238	1751	Q>K		No	ClinGen gnomAD
rs1234967567 CA374071259	1752	A>V		No	ClinGen gnomAD
rs1468921228 CA374071266	1753	S>N		No	ClinGen gnomAD
CA374071279 rs1588483990	1754	H>P		No	ClinGen Ensembl
CA5130523 rs758514951	1754	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA196417127 rs563184473	1755	P>S		No	ClinGen 1000Genomes
CA5130524 rs781303125	1758	L>F		No	ClinGen ExAC gnomAD
rs1410755337 CA374071329	1759	G>R		No	ClinGen gnomAD
rs1410755337 CA374071328	1759	G>S		No	ClinGen gnomAD
rs777694162 CA374071340	1760	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5130527 rs777694162	1760	A>T		No	ClinGen ExAC TOPMed gnomAD
CA374071350 rs1441188702	1761	R>*		No	ClinGen gnomAD
rs749027512 CA5130528	1761	R>Q		No	ClinGen ExAC gnomAD
rs991498824 CA374071392	1765	S>C		No	ClinGen TOPMed gnomAD
rs991498824 CA196417181	1765	S>F		No	ClinGen TOPMed gnomAD
rs1282106752 CA374071387	1765	S>T		No	ClinGen gnomAD
CA374071401 rs1367055503	1766	P>L		No	ClinGen TOPMed
rs545614693 CA374071403	1767	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130529 rs545614693 COSM324319	1767	R>W	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
COSM1292891 CA374071427 rs1270430893	1769	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5130530 rs563807204	1769	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563807204 CA374071430	1769	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130532 rs143837133	1772	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130531 rs745410267	1772	Q>K		No	ClinGen ExAC gnomAD
rs1267327637 CA374071478	1774	D>Y		No	ClinGen TOPMed
rs774957899 CA5130533	1776	S>G		No	ClinGen ExAC gnomAD
rs138527790 CA5130534	1776	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130535 rs769037928	1777	S>L		No	ClinGen ExAC TOPMed gnomAD
CA374071512 rs1588484590	1777	S>P		No	ClinGen Ensembl
CA5130537 rs762017976	1778	P>S		No	ClinGen ExAC TOPMed gnomAD
rs762017976 CA374071520	1778	P>T		No	ClinGen ExAC TOPMed gnomAD
CA374071532 rs1303567495	1779	A>T		No	ClinGen gnomAD
rs765589301 CA5130538	1779	A>V		No	ClinGen ExAC gnomAD
rs898942674 CA196417237	1780	K>N		No	ClinGen Ensembl
CA196417242 rs994609730	1783	G>R		No	ClinGen Ensembl
CA196417246 rs1025959004	1784	R>C		No	ClinGen TOPMed gnomAD
CA5130541 rs143442405	1784	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM4164117 COSM4164119 rs1268093141 CA374071593	1785	F>L	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5130542 rs147131740	1786	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374071605 rs1292982224	1787	V>M		No	ClinGen gnomAD
CA374071614 rs1282483565	1788	V>F		No	ClinGen TOPMed
rs754593304 CA374071624	1789	S>G		No	ClinGen TOPMed
rs1350319613 CA374071631	1789	S>I		No	ClinGen gnomAD
rs754593304 CA196417254	1789	S>R		No	ClinGen TOPMed
rs1014135438 CA196417261	1789	S>R		No	ClinGen gnomAD
rs368888719 CA5130544	1790	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1315932334 CA374071642	1791	Q>K		No	ClinGen TOPMed
CA5130545 rs753667495	1791	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs757003488 CA5130546	1793	E>K		No	ClinGen ExAC gnomAD
CA589579816 rs1182703665	1793	E>V*		No	ClinGen gnomAD
rs1176303443 CA374071684	1794	W>*		No	ClinGen TOPMed gnomAD
rs1160778108 CA374071679	1794	W>R		No	ClinGen TOPMed
rs1051912227 CA196417313	1795	T>I		No	ClinGen TOPMed
CA374071694 rs1588485476	1795	T>P		No	ClinGen Ensembl
rs745571077 CA5130548	1798	S>F		No	ClinGen ExAC TOPMed gnomAD
CA374071724 rs890207643	1798	S>P		No	ClinGen TOPMed
CA196417325 rs890207643	1798	S>T		No	ClinGen TOPMed
rs745571077 CA374071728	1798	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA374071740 rs1386932517	1799	P>R		No	ClinGen TOPMed gnomAD
rs185027419 CA5130551	1800	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130550 rs185027419	1800	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1385538130 CA374071751	1800	H>Q		No	ClinGen gnomAD
CA5130552 rs185027419	1800	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1033038994 CA196417348	1801	S>G		No	ClinGen TOPMed gnomAD
CA374071788 rs1383807112	1804	Y>*		No	ClinGen TOPMed gnomAD
rs1468571884 CA374071794	1805	S>C		No	ClinGen TOPMed gnomAD
CA374071801 rs1315634965	1806	A>V		No	ClinGen gnomAD
rs762288615 CA5130555	1807	P>L		No	ClinGen ExAC gnomAD
rs762288615 CA5130554	1807	P>Q		No	ClinGen ExAC gnomAD
CA5130553 rs776962381	1807	P>S		No	ClinGen ExAC gnomAD
rs1322061360 CA374071812	1809	D>A		No	ClinGen TOPMed
rs762615300 CA5130559	1809	D>H		No	ClinGen ExAC TOPMed gnomAD
rs762615300 COSM1463697 CA5130558	1809	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs539783461 CA5130561	1810	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA374071830 rs1207360787	1812	L>M		No	ClinGen gnomAD
CA5130563 rs55867834	1814	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130564 rs373477898	1815	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs373477898 CA374071853	1815	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1442585777 CA374071857	1816	P>A		No	ClinGen gnomAD
CA374071862 rs1182788252	1817	S>P		No	ClinGen gnomAD
CA196417454 rs866387872	1817	S>Y		No	ClinGen Ensembl
rs534820585 CA196417466	1820	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA5130567 COSM1187765 rs553242967	1821	V>M	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA374071897 rs1459087977	1822	K>R		No	ClinGen TOPMed gnomAD
CA374071903 rs1460132159	1823	L>M		No	ClinGen TOPMed
rs1242651262 CA374071912	1824	A>P		No	ClinGen TOPMed
rs574683270 CA196417473	1824	A>V		No	ClinGen 1000Genomes gnomAD
rs1451413256 CA374071924	1825	V>A		No	ClinGen gnomAD
CA5130570 rs780729757	1826	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5130569 rs768001319	1826	R>W		No	ClinGen ExAC TOPMed gnomAD
CA196417507 rs750788421	1827	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5130572 rs750788421	1827	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5130571 rs370781276	1827	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA196417509 rs1038455859	1828	A>G		No	ClinGen gnomAD
rs1038455859 CA374071946	1828	A>V		No	ClinGen gnomAD
CA196417530 rs919429330	1829	Q>H		No	ClinGen TOPMed
CA196417538 rs1047516639	1830	T>M		No	ClinGen TOPMed gnomAD
CA374071970 rs1315181894	1831	A>T		No	ClinGen TOPMed
rs774400166 CA5130576	1832	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1480502923 CA374071996	1833	S>F		No	ClinGen TOPMed gnomAD
rs535413839 CA196417553	1833	S>P		No	ClinGen 1000Genomes
rs1480502923 CA374071993	1833	S>Y		No	ClinGen TOPMed gnomAD
CA196417561 rs898456023	1834	I>L		No	ClinGen Ensembl
rs557206980 CA196417565	1834	I>S		No	ClinGen 1000Genomes
rs575148211 CA196417595	1835	E>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs950990094 CA196417580	1835	E>K		No	ClinGen TOPMed gnomAD
rs1588487089 CA374072027	1836	V>G		No	ClinGen Ensembl
rs1401445903 CA374072019	1836	V>I		No	ClinGen TOPMed gnomAD
rs373259519 CA374072030	1837	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs373259519 CA5130579	1837	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350444313 COSM4164123 CA374072045 COSM4164121	1838	V>G	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
rs376742916 CA196417601	1838	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130581 rs376742916	1838	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs943112638 CA196417604	1839	G>V		No	ClinGen TOPMed
rs1387427811 CA374072057	1840	E>K		No	ClinGen TOPMed gnomAD
CA374072072 rs1285283522	1841	P>S		No	ClinGen TOPMed gnomAD
CA196417659 rs1032778551	1842	V>M		No	ClinGen TOPMed gnomAD
CA5130587 rs780631229	1845	D>N		No	ClinGen ExAC gnomAD
CA374072122 rs1229668248	1846	S>T		No	ClinGen TOPMed
CA5130588 rs747644345	1847	G>E		No	ClinGen ExAC TOPMed gnomAD
CA374072148 rs1250751186	1848	D>E		No	ClinGen TOPMed gnomAD
CA196417674 rs1010237325	1848	D>G		No	ClinGen gnomAD
rs1010237325 CA374072146	1848	D>V		No	ClinGen gnomAD
CA374072160 rs1442169682	1849	E>D		No	ClinGen TOPMed
rs756698193 CA5130589	1849	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1351596180 CA374072166	1850	G>D		No	ClinGen TOPMed
CA374072173 rs1201425573	1851	P>S		No	ClinGen gnomAD
rs749704729 CA374072182	1852	R>L		No	ClinGen ExAC TOPMed gnomAD
rs749704729 CA374072183	1852	R>P		No	ClinGen ExAC TOPMed gnomAD
rs749704729 CA5130591	1852	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5130590 rs778353751	1852	R>W		No	ClinGen ExAC TOPMed gnomAD
CA374072188 rs1407281814	1853	A>S		No	ClinGen TOPMed
rs771155224 CA5130592	1853	A>V		No	ClinGen ExAC TOPMed gnomAD
rs746119270 CA5130594	1855	P>T		No	ClinGen ExAC gnomAD
rs201158379 CA5130595	1856	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201158379 CA374072222	1856	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760690108 CA5130597	1857	V>L		No	ClinGen ExAC gnomAD
rs561971555 CA5130598	1858	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130599 rs773084187	1859	K>R		No	ClinGen ExAC gnomAD
CA196417705 rs370194045	1860	Q>H		No	ClinGen ESP TOPMed gnomAD
rs1269312319 CA374072271	1861	A>P		No	ClinGen TOPMed
rs376124126 CA196417707	1861	A>V		No	ClinGen ESP TOPMed gnomAD
rs551004147 CA5130602	1862	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs974332807 CA196417720	1863	L>P		No	ClinGen Ensembl
rs1273668338 CA374072299	1864	P>S		No	ClinGen gnomAD
CA5130604 rs767135945	1865	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5130606 rs368424323	1869	V>M		No	ClinGen ESP ExAC gnomAD
CA5130607 rs778449847	1870	A>S		No	ClinGen ExAC gnomAD
CA5130608 rs372713878	1871	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs533176612 CA196417757	1872	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs1343618560 CA374072403	1873	F>L		No	ClinGen TOPMed
CA5130613 rs780183597	1874	V>G		No	ClinGen ExAC TOPMed gnomAD
rs572566317 CA5130612	1874	V>L		No	ClinGen ExAC TOPMed gnomAD
rs572566317 CA5130611	1874	V>M		No	ClinGen ExAC TOPMed gnomAD
CA374072428 rs747113401	1875	K>M		No	ClinGen ExAC TOPMed gnomAD
CA374072423 rs1348620445	1875	K>Q		No	ClinGen gnomAD
rs747113401 CA5130614	1875	K>R		No	ClinGen ExAC TOPMed gnomAD
rs747113401 CA374072429	1875	K>T		No	ClinGen ExAC TOPMed gnomAD
rs768772789 CA5130615	1876	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1192667935 CA374072458	1877	A>V		No	ClinGen TOPMed
CA374072470 rs1484700900	1878	T>I		No	ClinGen TOPMed
rs1380750978 CA374072474	1879	A>T		No	ClinGen TOPMed gnomAD
CA5130619 rs774027865	1883	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5130621 rs759305591	1883	R>K		No	ClinGen ExAC TOPMed gnomAD
rs759305591 CA5130620	1883	R>M		No	ClinGen ExAC TOPMed gnomAD
rs1302453515 CA374072553	1884	P>S		No	ClinGen TOPMed
CA374072573 rs1404616361	1885	S>Y		No	ClinGen TOPMed gnomAD
CA374072589 rs760385070	1886	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5130623 rs760385070	1886	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs35032940 RCV000883513 CA5130622	1886	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5130624 rs146038511	1887	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757764931 CA5130626	1888	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5130627 rs568296567	1889	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1010057099 CA196417865	1891	G>D		No	ClinGen Ensembl
CA5130631 rs376602864	1893	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs556996667 CA5130632	1895	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1240771854 CA374073042	1896	S>T		No	ClinGen TOPMed
rs1588489072 CA374073056	1898	V>G		No	ClinGen Ensembl
CA5130634 rs748198411	1899	G>D		No	ClinGen ExAC gnomAD
rs770774960 CA5130635	1900	M>L		No	ClinGen ExAC gnomAD
rs770774960 CA374073064	1900	M>L		No	ClinGen ExAC gnomAD
rs774300852 CA374073065	1900	M>R		No	ClinGen ExAC gnomAD
rs774300852 CA5130636	1900	M>T		No	ClinGen ExAC gnomAD
CA5130637 rs188338668	1901	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1588489234 CA374073082	1902	V>G		No	ClinGen Ensembl
CA196417937 rs1018661001	1904	T>M		No	ClinGen TOPMed gnomAD
CA374073095 rs1588489289	1905	I>V		No	ClinGen Ensembl
rs139955582 CA5130641	1907	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201327326 CA374073117	1908	T>N		No	ClinGen gnomAD
rs761320573 CA5130643	1909	S>C		No	ClinGen ExAC TOPMed gnomAD
CA374073138 rs1472673260	1911	H>R		No	ClinGen TOPMed gnomAD
rs765695616 CA5130644	1912	S>F		No	ClinGen ExAC gnomAD
rs765695616 CA374073144	1912	S>Y		No	ClinGen ExAC gnomAD
rs372209963 CA5130645	1914	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130648 rs751907228	1916	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1332428649 CA374073176	1917	I>T		No	ClinGen gnomAD
CA5130649 rs755203351	1917	I>V		No	ClinGen ExAC TOPMed gnomAD
rs371412303 CA5130651	1920	D>G		No	ClinGen ESP ExAC gnomAD
rs1299860637 CA374073213	1922	D>G		No	ClinGen gnomAD
rs756166932 CA5130652	1923	S>L		No	ClinGen ExAC gnomAD
CA196418058 rs982972338	1925	L>V		No	ClinGen TOPMed
CA5130656 rs775485696	1926	E>K		No	ClinGen ExAC gnomAD
rs1221381348 CA374073247	1927	D>V		No	ClinGen gnomAD
CA374073266 rs1277462407	1930	I>V		No	ClinGen TOPMed gnomAD
rs1479923964 CA374073293	1933	E>G		No	ClinGen TOPMed
rs746744645 CA5130658	1936	S>C		No	ClinGen ExAC gnomAD
CA5130660 rs777244350	1938	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5130661 rs777244350	1938	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5130659 rs768429578	1938	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1588490139 CA374073332	1940	K>E		No	ClinGen Ensembl
CA5130662 rs539971889	1940	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1403487467 CA374073906	1946	S>L		No	ClinGen TOPMed gnomAD
rs776258149 CA374073915	1948	L>M		No	ClinGen ExAC gnomAD
rs1023374221 CA196420812	1950	S>N		No	ClinGen TOPMed
rs769315746 CA5130680	1951	Q>H		No	ClinGen ExAC
rs772790491 CA374073980	1956	I>M		No	ClinGen ExAC TOPMed gnomAD
rs762379413 CA5130682 COSM1463701	1957	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs868005500 CA196420833	1958	A>D		No	ClinGen Ensembl
CA374073994 rs1194256420	1959	L>V		No	ClinGen TOPMed
CA374074001 rs1588536223	1960	Y>S		No	ClinGen Ensembl
rs774786528 CA5130684	1961	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1208521554 CA374074008	1961	R>H		No	ClinGen gnomAD
rs760009960 CA5130685	1962	R>C		No	ClinGen ExAC TOPMed gnomAD
rs140079317 CA5130686	1962	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1314260113 CA374074020	1964	G>S		No	ClinGen TOPMed
rs1218282614 CA374074030	1965	K>R		No	ClinGen TOPMed gnomAD
rs1246400407 CA374074043	1967	L>P		No	ClinGen gnomAD
rs753004359 CA374074045	1968	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1386797526 CA374074047	1968	P>H		No	ClinGen gnomAD
rs753004359 CA5130687	1968	P>T		No	ClinGen ExAC TOPMed gnomAD
CA374074053 rs142375182	1969	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130689 rs142375182	1969	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130688 rs142375182	1969	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756079557 CA196420877	1970	N>D		No	ClinGen Ensembl
rs1032437275 CA196420911	1970	N>K		No	ClinGen TOPMed gnomAD
CA196420906 rs1006518024	1970	N>S		No	ClinGen TOPMed gnomAD
rs757373762 CA5130692	1971	V>L		No	ClinGen ExAC TOPMed gnomAD
rs757373762 CA374074059	1971	V>L		No	ClinGen ExAC TOPMed gnomAD
rs757373762 CA5130691	1971	V>M		No	ClinGen ExAC TOPMed gnomAD
CA374074071 rs1452854646	1973	F>L		No	ClinGen gnomAD
CA5130693 rs377393557	1976	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs369490816 CA196420922	1978	P>L		No	ClinGen ESP gnomAD
CA374074106 rs1284112905	1978	P>S		No	ClinGen gnomAD
CA374074112 rs1437525628	1979	P>R		No	ClinGen TOPMed
rs778890242 CA196420923	1979	P>S		No	ClinGen Ensembl
rs923096843 CA196420975	1981	G>V		No	ClinGen Ensembl
CA374074127 rs1158686576	1982	R>C		No	ClinGen gnomAD
CA374074128 COSM1463705 rs1204473047	1982	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA374074131 rs151270407	1983	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5130699 rs748814437	1983	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs151270407 CA5130698	1983	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186807311 CA374074154	1986	T>I		No	ClinGen TOPMed gnomAD
CA374074149 rs1588537128	1986	T>P		No	ClinGen Ensembl
rs1364274251 CA374074174	1989	S>N		No	ClinGen gnomAD
CA374074219 rs1564202299	1995	K>N		No	ClinGen Ensembl
rs760106086 CA5130702	2001	V>L		No	ClinGen ExAC gnomAD
CA196420992 rs910665425	2002	R>Q		No	ClinGen TOPMed gnomAD
rs772446726 CA5130703	2002	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5130705 rs760883114	2007	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1564202458 CA374074292	2008	A>S		No	ClinGen Ensembl
CA374074295 rs1303079955	2008	A>V		No	ClinGen TOPMed
CA374074296 rs1425779276	2009	S>T		No	ClinGen TOPMed
rs1230723962 CA374074318	2012	G>S		No	ClinGen gnomAD
CA5130731 rs756043912	2013	H>R		No	ClinGen ExAC gnomAD
CA5130732 rs763946699	2015	A>P		No	ClinGen ExAC gnomAD
rs1295373025 CA374074366	2017	S>F		No	ClinGen gnomAD
CA196421740 rs1039080739	2018	S>T		No	ClinGen Ensembl
CA374074383 rs1249539778	2020	G>A		No	ClinGen TOPMed
rs368517465 CA5130734	2020	G>C		No	ClinGen ESP ExAC gnomAD
rs1249539778 CA374074382	2020	G>D		No	ClinGen TOPMed
CA374074381 rs368517465	2020	G>R		No	ClinGen ESP ExAC gnomAD
CA5130735 rs368517465	2020	G>S		No	ClinGen ESP ExAC gnomAD
CA374074389 rs745415350	2021	P>H		No	ClinGen ExAC gnomAD
CA5130736 rs745415350	2021	P>L		No	ClinGen ExAC gnomAD
rs757797824 CA5130737	2022	P>S		No	ClinGen ExAC gnomAD
CA5130739 rs147749673	2023	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA196421760 rs930553706	2024	K>N		No	ClinGen Ensembl
CA374074410 rs1588546792	2025	D>A		No	ClinGen Ensembl
CA374074420 rs1360102440	2026	P>L		No	ClinGen gnomAD
rs1296549792 CA374074417	2026	P>T		No	ClinGen gnomAD
rs1223601569 CA374074435	2028	Q>P		No	ClinGen TOPMed gnomAD
CA374074441 rs1263237347	2029	A>T		No	ClinGen gnomAD
CA5130740 rs769271247	2030	S>N		No	ClinGen ExAC TOPMed gnomAD
CA374074462 rs1205406408	2031	V>A		No	ClinGen gnomAD
rs777146750 CA5130741	2035	A>S		No	ClinGen ExAC TOPMed gnomAD
rs535771097 CA5130742	2036	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374074523 rs1389873173	2038	T>M		No	ClinGen gnomAD
rs1457455150 CA374074552	2042	G>R		No	ClinGen gnomAD
rs1457455150 CA374074550	2042	G>R		No	ClinGen gnomAD
rs950444948 CA196421816	2044	A>T		No	ClinGen TOPMed gnomAD
rs753638401 CA5130750	2046	Q>R		No	ClinGen ExAC gnomAD
rs757009769 CA5130751	2048	Q>K		No	ClinGen ExAC gnomAD
CA374075061 rs1320634946	2051	C>G		No	ClinGen gnomAD
COSM1720992 CA196421829 rs866904466	2052	S>F	NS [Cosmic]	No	ClinGen cosmic curated Ensembl
CA5130753 rs368164098	2053	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs779498375 CA5130755	2054	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5130754 rs758039512	2054	R>W		No	ClinGen ExAC TOPMed gnomAD
CA374075103 rs1483777616	2055	A>P		No	ClinGen gnomAD
CA196421868 rs905930575	2057	L>R		No	ClinGen TOPMed
rs974728521 CA196421872	2058	S>F		No	ClinGen TOPMed
CA5130756 rs746469152	2059	S>L		No	ClinGen ExAC TOPMed gnomAD
CA196421903 rs946601356	2063	S>F		No	ClinGen TOPMed gnomAD
CA5130760 rs748545366	2064	G>S		No	ClinGen ExAC TOPMed gnomAD
rs138695382 CA5130761	2067	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149243272 CA5130763	2071	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130764 rs149243272	2071	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130765 rs143514935	2072	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1244196366 CA374075319	2072	A>V		No	ClinGen TOPMed
rs148001072 CA5130767	2073	R>C		No	ClinGen ExAC TOPMed gnomAD
rs776503070 CA5130768	2073	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776503070 CA374075328	2073	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5130769 rs761716684	2074	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1289681523 CA374075334	2074	G>R		No	ClinGen TOPMed gnomAD
rs761716684 CA374075340	2074	G>V		No	ClinGen ExAC TOPMed gnomAD
rs550332293 CA196421976	2075	Q>*		No	ClinGen Ensembl
CA5130787 rs772189186	2077	W>R		No	ClinGen ExAC gnomAD
CA374075460 rs1217057212	2078	T>M		No	ClinGen gnomAD
CA374075487 rs1311970988	2082	P>R		No	ClinGen gnomAD
rs375523037 CA196422527	2083	T>A		No	ClinGen ESP TOPMed
rs761808379 CA5130789	2083	T>M		No	ClinGen ExAC gnomAD
CA374075509 rs1201468518	2086	R>K		No	ClinGen TOPMed
rs751305410 CA5130794	2096	R>G		No	ClinGen ExAC TOPMed gnomAD
rs568767917 CA196422572	2096	R>H		No	ClinGen 1000Genomes gnomAD
CA374075590 rs1424271549	2098	R>Q		No	ClinGen TOPMed gnomAD
rs1445957717 CA374075618	2102	G>E		No	ClinGen TOPMed
rs767200622 CA5130796	2104	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5130797 rs752239348	2105	S>F		No	ClinGen ExAC gnomAD
CA374075637 rs1428977947	2106	V>M		No	ClinGen gnomAD
rs774279085 CA5130814	2110	S>A		No	ClinGen ExAC gnomAD
CA374075684 rs1403063785	2111	A>T		No	ClinGen gnomAD
rs759317534 CA5130815	2113	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1388947041 CA374075705	2114	R>H		No	ClinGen gnomAD
CA374075710 rs1436753611	2115	L>F		No	ClinGen gnomAD
CA374075795 rs1440630391	2125	S>Y		No	ClinGen TOPMed gnomAD
CA5130835 rs745594921	2127	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1413714006 CA374075830	2131	A>T		No	ClinGen TOPMed
CA196431969 rs1050559512	2134	P>R		No	ClinGen TOPMed
CA5130836 rs771885881	2134	P>S		No	ClinGen ExAC gnomAD
rs889491352 CA196431976	2135	E>G		No	ClinGen TOPMed
rs1173542675 CA374075863	2136	P>L		No	ClinGen gnomAD
CA374075885 rs1369289630	2138	P>L		No	ClinGen TOPMed
rs537020225 CA5130838	2141	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776001924 CA5130840	2143	H>Y		No	ClinGen ExAC gnomAD
rs61753907 CA5130842	2144	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750815140 CA5130843	2145	Q>E		No	ClinGen ExAC gnomAD
CA5130844 rs758711938	2146	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5130847 rs751848439	2149	N>D		No	ClinGen ExAC
rs141800766 CA5130848	2150	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA196432021 rs146271415	2151	S>G		No	ClinGen ESP TOPMed gnomAD
rs1232323564 CA374076057	2151	S>R		No	ClinGen TOPMed
rs1459796022 CA374076105	2154	K>N		No	ClinGen Ensembl
CA5130851 rs781387479	2159	T>M		No	ClinGen ExAC TOPMed gnomAD
rs375585795 CA374076206	2161	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1371734874 CA374076192	2161	D>N		No	ClinGen TOPMed gnomAD
CA196432067 rs772577346	2162	L>M		No	ClinGen Ensembl
rs1298107772 CA374076214	2162	L>P		No	ClinGen TOPMed
CA374076224 rs1395853446	2163	H>P		No	ClinGen gnomAD
CA196432075 rs775929160	2165	L>R		No	ClinGen Ensembl
rs1387620212 CA374076257	2166	V>M		No	ClinGen TOPMed gnomAD
rs1588617739 CA374076308	2169	W>L		No	ClinGen Ensembl
rs139711080 CA5130856	2170	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs746743228 CA5130858	2171	S>N		No	ClinGen ExAC gnomAD
rs914504311 CA196432093	2173	T>M		No	ClinGen TOPMed gnomAD
rs1488516846 CA374076355	2175	G>R		No	ClinGen gnomAD
CA5130864 rs763417882	2177	A>T		No	ClinGen ExAC gnomAD
CA374076369 rs1193417697	2177	A>V		No	ClinGen TOPMed gnomAD
rs1451948886 CA374076374	2178	Q>P		No	ClinGen gnomAD
CA374076394 rs1458445999	2181	P>H		No	ClinGen gnomAD
rs145773303 CA5130866	2181	P>S		No	ClinGen ESP ExAC gnomAD
CA196432131 rs771040278	2182	T>M		No	ClinGen gnomAD
CA374076404 rs1440374484	2183	L>F		No	ClinGen gnomAD
rs1367087728 CA374076417	2185	Q>E		No	ClinGen gnomAD
rs1315825475 CA374076469	2192	L>Q		No	ClinGen TOPMed
rs1182514843 CA374076495	2195	M>I		No	ClinGen gnomAD
rs1442681460 CA374076492	2195	M>R		No	ClinGen TOPMed gnomAD
rs1442681460 CA374076491	2195	M>T		No	ClinGen TOPMed gnomAD
CA5130871 rs777980908	2195	M>V		No	ClinGen ExAC gnomAD
rs1246389901 CA374076496	2196	E>K		No	ClinGen gnomAD
rs1263102674 CA374076501	2196	E>V		No	ClinGen gnomAD
rs374287169 CA374076507	2197	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554855816 CA5130872	2197	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374287169 CA5130873	2197	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130874 rs779958222	2198	Q>L		No	ClinGen ExAC gnomAD
rs1466513014 CA374076520	2199	A>E		No	ClinGen gnomAD
CA5130875 rs746725806	2200	G>D		No	ClinGen ExAC TOPMed gnomAD
CA374076521 rs1185325840	2200	G>S		No	ClinGen gnomAD
CA5130876 rs768362397	2202	A>G		No	ClinGen ExAC TOPMed gnomAD
rs148525339 CA374076558	2206	E>K		No	ClinGen ESP ExAC gnomAD
rs148525339 CA5130878	2206	E>Q		No	ClinGen ESP ExAC gnomAD
rs769333139 CA5130879	2207	A>V		No	ClinGen ExAC TOPMed gnomAD
rs763505524 CA5130881	2208	R>G		No	ClinGen ExAC gnomAD
rs771367178 CA5130882	2208	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771367178 CA5130883	2208	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA374076570 rs763505524	2208	R>W		No	ClinGen ExAC gnomAD
rs376854059 CA5130884	2209	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA374076575 rs1564229739	2209	A>V		No	ClinGen Ensembl
CA374076682 rs1313135952	2212	A>T		No	ClinGen TOPMed gnomAD
rs1212920267 CA374076703	2213	P>L		No	ClinGen gnomAD
rs1259812378 CA374076705	2214	R>*		No	ClinGen TOPMed
rs764354486 CA5130908	2214	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs142929082 CA5130910	2216	G>A		No	ClinGen ESP ExAC TOPMed
rs1205987250 CA374076734	2217	V>L		No	ClinGen gnomAD
rs1420385695 CA374076749	2218	G>E		No	ClinGen gnomAD
CA5130911 rs765335109	2220	P>L		No	ClinGen ExAC gnomAD
rs147878448 CA5130912	2221	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130913 rs754937381	2221	R>H		No	ClinGen ExAC TOPMed gnomAD
rs573931763 CA5130915	2223	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5130914 rs767273259	2223	P>S		No	ClinGen ExAC TOPMed gnomAD
rs777362163 CA5130917	2225	A>S		No	ClinGen ExAC gnomAD
CA5130918 rs147707800	2225	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5130921 rs746433338	2227	G>S		No	ClinGen ExAC TOPMed gnomAD
rs927733879 CA196437664	2228	P>R		No	ClinGen TOPMed
CA196437669 rs966027175	2229	L>V		No	ClinGen TOPMed
rs1368800667 CA374076877	2230	S>C		No	ClinGen gnomAD
rs1368800667 CA374076876	2230	S>Y		No	ClinGen gnomAD
CA5130924 rs747311181	2231	T>A		No	ClinGen ExAC gnomAD
CA374076882 rs747311181	2231	T>P		No	ClinGen ExAC gnomAD
rs769032200 COSM3716317 COSM3716315 CA5130925	2232	T>M	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA374076893 rs1181155328	2232	T>P		No	ClinGen TOPMed
rs556589011 CA5130926	2233	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA374076925 rs1204135502	2235	P>A		No	ClinGen gnomAD
CA374076933 rs1247542757	2235	P>L		No	ClinGen gnomAD
rs1394178350 CA374076941	2236	G>E		No	ClinGen gnomAD
rs142537088 CA5130928	2236	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs146916008 CA374076950	2237	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs773327601 CA5130929	2237	A>T		No	ClinGen ExAC gnomAD
rs146916008 CA5130930	2237	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs752519116 CA5130932	2238	A>T		No	ClinGen ExAC TOPMed gnomAD
rs377748076 CA5130933	2239	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374076971 rs377748076	2239	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588675419 CA374049036	2243	V>A		No	ClinGen Ensembl
CA5130937 rs554495666	2243	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554495666 CA5130936	2243	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130938 rs749895183	2244	P>S		No	ClinGen ExAC TOPMed gnomAD
rs758837965 CA5130940	2246	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1222629787 CA374049060	2246	P>L		No	ClinGen gnomAD
rs758837965 CA5130939	2246	P>S		No	ClinGen ExAC TOPMed gnomAD
CA374049066 rs1272397730	2247	D>N		No	ClinGen gnomAD
rs761633109 CA5130975	2249	A>G		No	ClinGen ExAC gnomAD
rs776299010 CA374049165	2249	A>S		No	ClinGen ExAC TOPMed gnomAD
rs776299010 CA5130974	2249	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1238638186 CA374049175	2250	L>F		No	ClinGen TOPMed
CA374049195 rs1305279901	2251	G>E		No	ClinGen gnomAD
COSM3413837 rs1049268598 CA196406729	2251	G>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5130978 rs762506493	2253	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5130980 rs535240023	2254	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5130979 rs766042538	2254	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5130981 rs755542617	2255	R>G		No	ClinGen ExAC TOPMed gnomAD
CA374049274 rs1304654009	2258	V>L		No	ClinGen TOPMed
rs753024981 CA5130983	2259	W>C		No	ClinGen ExAC gnomAD
CA196406752 rs1036492980	2262	L>F		No	ClinGen TOPMed gnomAD
rs777966056 CA5130985	2263	R>*		No	ClinGen ExAC gnomAD
rs1173551692 CA374049367	2263	R>P		No	ClinGen gnomAD
rs1564251839 CA374049373	2264	V>I		No	ClinGen Ensembl
rs749593874 CA5130988	2265	P>S		No	ClinGen ExAC TOPMed gnomAD
CA374049407 rs1387498301	2266	P>S		No	ClinGen gnomAD
rs1368498747 CA374049427	2267	T>I		No	ClinGen TOPMed gnomAD
rs1368498747 CA374049425	2267	T>N		No	ClinGen TOPMed gnomAD
rs550342502 CA5130992	2268	A>D		No	ClinGen ExAC TOPMed gnomAD
rs745881772 CA5130991	2268	A>S		No	ClinGen ExAC TOPMed gnomAD
rs745881772 CA374049431	2268	A>T		No	ClinGen ExAC TOPMed gnomAD
rs550342502 CA374049441	2268	A>V		No	ClinGen ExAC TOPMed gnomAD
rs982072496 CA196406792	2269	C>G		No	ClinGen Ensembl
rs776586254 CA5130993	2270	C>W		No	ClinGen ExAC TOPMed gnomAD
CA374049473 rs1250210300	2271	G>R		No	ClinGen gnomAD
CA5130994 rs748017484	2272	H>D		No	ClinGen ExAC TOPMed gnomAD
CA374049477 rs748017484	2272	H>N		No	ClinGen ExAC TOPMed gnomAD
CA5130995 rs769672998	2272	H>R		No	ClinGen ExAC TOPMed gnomAD
CA196406794 rs748017484	2272	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1255354438 CA374049486	2273	S>T		No	ClinGen TOPMed gnomAD
rs772867151 CA5130996	2274	T>I		No	ClinGen ExAC gnomAD
rs762704991 CA5130997	2275	Q>H		No	ClinGen ExAC gnomAD
rs567031988 CA5130998	2276	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs35704380 CA374049509	2277	R>L		No	ClinGen ExAC TOPMed gnomAD
rs35704380 CA5131000	2277	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753286929 CA5131002	2278	G>R		No	ClinGen ExAC gnomAD
rs756572479 CA5131003	2279	G>E		No	ClinGen ExAC gnomAD
CA5131004 rs764579721	2280	Q>K		No	ClinGen ExAC gnomAD
CA374049530 rs149156267	2281	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5131006 rs149156267	2281	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754095012 CA5131005	2281	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1588679737 CA374049534	2282	V>G		No	ClinGen Ensembl
CA196406902 rs779071580	2282	V>L		No	ClinGen ExAC gnomAD
CA5131007 rs779071580	2282	V>M		No	ClinGen ExAC gnomAD
CA5131008 rs549625752	2283	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567568094 CA5131009	2285	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374049559 rs1234805294	2286	T>I		No	ClinGen TOPMed gnomAD
CA196406921 rs956719009	2286	T>P		No	ClinGen TOPMed
CA5131010 rs779968993	2289	F>C		No	ClinGen ExAC gnomAD
CA5131011 rs538274602	2290	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773061059 CA5131013	2293	D>V		No	ClinGen ExAC gnomAD
rs770729213 CA5131015	2296	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770729213 CA5131016	2296	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5131017 rs759231582	2296	R>H		No	ClinGen ExAC gnomAD
CA374049619 rs1261187933	2297	S>P		No	ClinGen gnomAD
CA5131018 rs767119549	2298	S>W		No	ClinGen ExAC gnomAD

No associated diseases with Q9Y3S1

11 regional properties for Q9Y3S1

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	194 - 373	IPR000219
conserved_site	Guanine-nucleotide dissociation stimulator, CDC24, conserved site	322 - 347	IPR001331
domain	SH3 domain	592 - 660	IPR001452-1
domain	SH3 domain	782 - 842	IPR001452-2
domain	Calponin homology domain	1 - 119	IPR001715
domain	Pleckstrin homology domain	402 - 506	IPR001849
domain	Calmodulin-regulated spectrin-associated protein-like, Calponin-homology domain	19 - 102	IPR022613
domain	VAV1 protein, second SH3 domain	786 - 839	IPR035729
domain	VAV1 protein, first SH3 domain	596 - 658	IPR035730
domain	VAV1, SH2 domain	665 - 767	IPR035879
domain	Vav, PH domain	385 - 508	IPR037832

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
chloride channel inhibitor activity	Binds to and stops, prevents, or reduces the activity of a chloride channel.
potassium channel inhibitor activity	Binds to and stops, prevents, or reduces the activity of a potassium channel.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.

10 GO annotations of biological process

Name	Definition
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
ion homeostasis	Any process involved in the maintenance of an internal steady state of ions within an organism or cell.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of ERK1 and ERK2 cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
negative regulation of sodium ion transport	Any process that decreases the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of potassium ion import across plasma membrane	Any process that activates or increases the frequency, rate or extent of potassium ion import across the plasma membrane.
positive regulation of sodium ion transmembrane transporter activity	Any process that activates or increases the frequency, rate or extent of sodium ion transmembrane transporter activity.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.

20 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96J92	WNK4	Serine/threonine-protein kinase WNK4	Homo sapiens (Human)	SS
P51957	NEK4	Serine/threonine-protein kinase Nek4	Homo sapiens (Human)	PR
Q9UHY1	NRBP1	Nuclear receptor-binding protein	Homo sapiens (Human)	PR
Q9H4A3	WNK1	Serine/threonine-protein kinase WNK1	Homo sapiens (Human)	SS
Q9BYP7	WNK3	Serine/threonine-protein kinase WNK3	Homo sapiens (Human)	SS
Q9Y2U5	MAP3K2	Mitogen-activated protein kinase kinase kinase 2	Homo sapiens (Human)	PR
Q99759	MAP3K3	Mitogen-activated protein kinase kinase kinase 3	Homo sapiens (Human)	PR
P83741	Wnk1	Serine/threonine-protein kinase WNK1	Mus musculus (Mouse)	SS
Q80UE6	Wnk4	Serine/threonine-protein kinase WNK4	Mus musculus (Mouse)	SS
Q80XP9	Wnk3	Serine/threonine-protein kinase WNK3	Mus musculus (Mouse)	SS
Q3UH66	Wnk2	Serine/threonine-protein kinase WNK2	Mus musculus (Mouse)	SS
Q6R2V0	WNK1	Serine/threonine-protein kinase WNK1	Sus scrofa (Pig)	SS
Q9JIH7	Wnk1	Serine/threonine-protein kinase WNK1	Rattus norvegicus (Rat)	EV
Q7TPK6	Wnk4	Serine/threonine-protein kinase WNK4	Rattus norvegicus (Rat)	SS
X5M5N0	wnk-1	Serine/threonine-protein kinase WNK	Caenorhabditis elegans	SS
Q8RXE5	WNK10	Probable serine/threonine-protein kinase WNK10	Arabidopsis thaliana (Mouse-ear cress)	PR
Q944Q0	WNK8	Serine/threonine-protein kinase WNK8	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LVL5	WNK4	Probable serine/threonine-protein kinase WNK4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9STK6	WNK3	Probable serine/threonine-protein kinase WNK3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8LST2	WNK7	Probable serine/threonine-protein kinase WNK7	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MDGDGGRRDV	PGTLMEPGRG	AGPAGMAEPR	AKAARPGPQR	FLRRSVVESD	QEEPPGLEAA
70	80	90	100	110	120
EAPGPQPPQP	LQRRVLLLCK	TRRLIAERAR	GRPAAPAPAA	LVAQPGAPGA	PADAGPEPVG
130	140	150	160	170	180
TQEPGPDPIA	AAVETAPAPD	GGPREEAAAT	VRKEDEGAAE	AKPEPGRTRR	DEPEEEEDDE
190	200	210	220	230	240
DDLKAVATSL	DGRFLKFDIE	LGRGSFKTVY	KGLDTETWVE	VAWCELQDRK	LTKLERQRFK
250	260	270	280	290	300
EEAEMLKGLQ	HPNIVRFYDF	WESSAKGKRC	IVLVTELMTS	GTLKTYLKRF	KVMKPKVLRS
310	320	330	340	350	360
WCRQILKGLL	FLHTRTPPII	HRDLKCDNIF	ITGPTGSVKI	GDLGLATLKR	ASFAKSVIGT
370	380	390	400	410	420
PEFMAPEMYE	EHYDESVDVY	AFGMCMLEMA	TSEYPYSECQ	NAAQIYRKVT	CGIKPASFEK
430	440	450	460	470	480
VHDPEIKEII	GECICKNKEE	RYEIKDLLSH	AFFAEDTGVR	VELAEEDHGR	KSTIALRLWV
490	500	510	520	530	540
EDPKKLKGKP	KDNGAIEFTF	DLEKETPDEV	AQEMIESGFF	HESDVKIVAK	SIRDRVALIQ
550	560	570	580	590	600
WRRERIWPAL	QPKEQQDVGS	PDKARGPPVP	LQVQVTYHAQ	AGQPGPPEPE	EPEADQHLLP
610	620	630	640	650	660
PTLPTSATSL	ASDSTFDSGQ	GSTVYSDSQS	SQQSVMLGSL	ADAAPSPAQC	VCSPPVSEGP
670	680	690	700	710	720
VLPQSLPSLG	AYQQPTAAPG	LPVGSVPAPA	CPPSLQQHFP	DPAMSFAPVL	PPPSTPMPTG
730	740	750	760	770	780
PGQPAPPGQQ	PPPLAQPTPL	PQVLAPQPVV	PLQPVPPHLP	PYLAPASQVG	APAQLKPLQM
790	800	810	820	830	840
PQAPLQPLAQ	VPPQMPPIPV	VPPITPLAGI	DGLPPALPDL	PTATVPPVPP	PQYFSPAVIL
850	860	870	880	890	900
PSLAAPLPPA	SPALPLQAVK	LPHPPGAPLA	MPCRTIVPNA	PATIPLLAVA	PPGVAALSIH
910	920	930	940	950	960
SAVAQLPGQP	VYPAAFPQMA	PTDVPPSPHH	TVQNMRATPP	QPALPPQPTL	PPQPVLPPQP
970	980	990	1000	1010	1020
TLPPQPVLPP	QPTRPPQPVL	PPQPMLPPQP	VLPPQPALPV	RPEPLQPHLP	EQAAPAATPG
1030	1040	1050	1060	1070	1080
SQILLGHPAP	YAVDVAAQVP	TVPVPPAAVL	SPPLPEVLLP	AAPELLPQFP	SSLATVSASV
1090	1100	1110	1120	1130	1140
QSVPTQTATL	LPPANPPLPG	GPGIASPCPT	VQLTVEPVQE	EQASQDKPPG	LPQSCESYGG
1150	1160	1170	1180	1190	1200
SDVTSGKELS	DSCEGAFGGG	RLEGRAARKH	HRRSTRARSR	QERASRPRLT	ILNVCNTGDK
1210	1220	1230	1240	1250	1260
MVECQLETHN	HKMVTFKFDL	DGDAPDEIAT	YMVEHDFILQ	AERETFIEQM	KDVMDKAEDM
1270	1280	1290	1300	1310	1320
LSEDTDADRG	SDPGTSPPHL	STCGLGTGEE	SRQSQANAPV	YQQNVLHTGK	RWFIICPVAE
1330	1340	1350	1360	1370	1380
HPAPEAPESS	PPLPLSSLPP	EASQGPCRGL	TLPCLPWRRA	ACGAVFLSLF	SAESAQSKQP
1390	1400	1410	1420	1430	1440
PDSAPYKDQL	SSKEQPSFLA	SQQLLSQAGP	SNPPGAPPAP	LAPSSPPVTA	LPQDGAAPAT
1450	1460	1470	1480	1490	1500
STMPEPASGT	ASQAGGPGTP	QGLTSELETS	QPLAETHEAP	LAVQPLVVGL	APCTPAPEAA
1510	1520	1530	1540	1550	1560
STRDASAPRE	PLPPPAPEPS	PHSGTPQPAL	GQPAPLLPAA	VGAVSLATSQ	LPSPPLGPTV
1570	1580	1590	1600	1610	1620
PPQPPSALES	DGEGPPPRVG	FVDSTIKSLD	EKLRTLLYQE	HVPTSSASAG	TPVEVGDRDF
1630	1640	1650	1660	1670	1680
TLEPLRGDQP	RSEVCGGDLA	LPPVPKEAVS	GRVQLPQPLV	EKSELAPTRG	AVMEQGTSSS
1690	1700	1710	1720	1730	1740
MTAESSPRSM	LGYDRDGRQV	ASDSHVVPSV	PQDVPAFVRP	ARVEPTDRDG	GEAGESSAEP
1750	1760	1770	1780	1790	1800
PPSDMGTVGG	QASHPQTLGA	RALGSPRKRP	EQQDVSSPAK	TVGRFSVVST	QDEWTLASPH
1810	1820	1830	1840	1850	1860
SLRYSAPPDV	YLDEAPSSPD	VKLAVRRAQT	ASSIEVGVGE	PVSSDSGDEG	PRARPPVQKQ
1870	1880	1890	1900	1910	1920
ASLPVSGSVA	GDFVKKATAF	LQRPSRAGSL	GPETPSRVGM	KVPTISVTSF	HSQSSYISSD
1930	1940	1950	1960	1970	1980
NDSELEDADI	KKELQSLREK	HLKEISELQS	QQKQEIEALY	RRLGKPLPPN	VGFFHTAPPT
1990	2000	2010	2020	2030	2040
GRRRKTSKSK	LKAGKLLNPL	VRQLKVVASS	TGHLADSSRG	PPAKDPAQAS	VGLTADSTGL
2050	2060	2070	2080	2090	2100
SGKAVQTQQP	CSVRASLSSD	ICSGLASDGG	GARGQGWTVY	HPTSERVTYK	SSSKPRARFL
2110	2120	2130	2140	2150	2160
SGPVSVSIWS	ALKRLCLGKE	HSSRSSTSSL	APGPEPGPQP	ALHVQAQVNN	SNNKKGTFTD
2170	2180	2190	2200	2210	2220
DLHKLVDEWT	SKTVGAAQLK	PTLNQLKQTQ	KLQDMEAQAG	WAAPGEARAM	TAPRAGVGMP
2230	2240	2250	2260	2270	2280
RLPPAPGPLS	TTVIPGAAPT	LSVPTPDGAL	GTARRNQVWF	GLRVPPTACC	GHSTQPRGGQ
2290
RVGSKTASFA	ASDPVRS