AiPD: Autoinhibited Protein Database

Q96J92

Gene name	WNK4
Protein name	Serine/threonine-protein kinase WNK4
Names	Protein kinase lysine-deficient 4, Protein kinase with no lysine 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:65266
EC number	2.7.11.1: Protein-serine/threonine kinases
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)

466-489 (Autoinhibitory region) SS

Target domain	174-432 (Protein kinase domain)
Relief mechanism	PTM
Assay

AID

466-489 (Autoinhibitory region)

Target domain

174-432 (Protein kinase domain)

Relief mechanism

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

Assay

Accessory elements

320-341 (Activation loop from InterPro)

Target domain	174-432 (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

4 structures for Q96J92

Entry ID	Method	Resolution	Chain	Position	Source
2V3S	X-ray	170 A	C/D	1015-1020	PDB
4CH9	X-ray	184 A	C/D	557-567	PDB
4CHB	X-ray	156 A	C/D	557-567	PDB
AF-Q96J92-F1	Predicted				AlphaFoldDB

1120 variants for Q96J92

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs577125376 RCV000387167 CA8583587	5	P>L	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000971310 RCV000281170 CA8583589 rs61754324	6	A>T	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000338395 rs61754325 CA8583596	16	T>I	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749459405 CA8583606 RCV001124176	27	P>A	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs370527167 RCV001124177 CA8583609	31	A>E	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
rs955842877 CA290780206 RCV001124178	55	R>H	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000957610 rs61754326 CA8583644 RCV000371996 COSM3691585 COSM3691584	80	A>D	large_intestine Pseudohypoaldosteronism type 2B [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001124180 rs373427674 CA8583651	82	D>E	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2054476902 RCV001126847	106	P>T	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinVar dbSNP
CA8583677 RCV001126848 rs773898452	128	P>R	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA399645653 RCV001126850 rs1186879600	187	T>M	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001126851 CA8583732 rs758123242	215	R>W	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs140897013 CA8583738 RCV000341945	227	G>W	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001355913 CA8583745 rs199775692 RCV001126852	239	S>W	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001127250 rs139202412 CA8583833	313	P>A	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1482267302 RCV001127251 CA399651640	358	V>E	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA216476 RCV000054782 rs387907562 RCV001127252	441	E>D	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8583960 rs566923583 RCV000346224	447	D>N	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001127253 rs2054535805	453	L>F	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinVar dbSNP
RCV001127254 CA8583979 COSM1232810 rs370770635	469	R>W	large_intestine Pseudohypoaldosteronism type 2B [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs761294614 CA8583982 RCV001123185	472	Q>E	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002056600 RCV000306761 rs55997156 CA8584012	508	R>H	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8584029 RCV000314959 rs200182836	525	R>H	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000318029 RCV000962593 rs57737815 CA8584051	555	P>R	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8584054 RCV001124269 RCV002070026 rs56003090	556	P>T	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA254226 rs137853093 VAR_017588	562	E>K	PHA2B; impaired interaction with KLHL3 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs137853094 VAR_017589 CA254227	564	D>A	PHA2B; impaired interaction with KLHL3 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
VAR_017590 rs137853092 CA254225	565	Q>E	PHA2B; impaired interaction with KLHL3 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV001723910 VAR_061748 rs55781437 COSM436649 COSM436650 CA8584096 RCV000259612	601	A>S	Pseudohypoaldosteronism type 2B breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8584111 rs143396070 RCV000286594	618	C>F	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000378074 CA8584147 RCV001840486 rs61755600	629	R>C	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000290625 CA8584149 rs56030257	630	S>P	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM166885 COSM166884 rs769815091 RCV000402811 CA8584179	669	R>W	Pseudohypoaldosteronism type 2B haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA8584182 rs367768336 RCV000855411	670	R>H	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8584189 RCV001127353 rs772583212	677	R>Q	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs9896991 RCV001127352 VAR_051685 CA8584188	677	R>W	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000289222 CA8584258 rs149389156	736	R>Q	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8584261 rs200823152 RCV000351244	738	R>Q	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2054629400 RCV001127354	755	M>K	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinVar dbSNP
rs778394259 CA8584345 RCV001127355	766	E>G	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001123283 rs145613797 CA8584354	783	N>S	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs56227191 RCV000953043 CA8584374 RCV000311885	790	T>N	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs56226218 RCV000368894 CA8584388	825	P>L	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000054786 CA216484 rs190384194 RCV000396383	826	G>S	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000301297 CA8584404 rs545588214	863	L>R	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs56081375 CA8584420 RCV000354003 RCV000971123	891	T>M	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2054650116 RCV001124388	894	P>L	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinVar dbSNP
CA8584448 rs200187290 RCV000362014	946	P>R	Pseudohypoaldosteronism type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8584450 rs372807256 RCV000265130	948	L>I	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2054652994 RCV001124390	954	P>S	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinVar dbSNP
VAR_051686 rs2290041 RCV000327309 CA8584458 RCV001528080	961	P>S	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775923469 RCV000384224 CA10645707	967	P>R	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8584514 RCV001125383 rs61755628	1011	P>L	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8584513 RCV001125382 rs61755628 RCV000901445	1011	P>R	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8584525 RCV000328268 RCV000948453 rs56099549	1025	P>L	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8584542 rs201421543 RCV001125384	1075	R>C	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000912774 rs148648427 CA8584547 RCV000387384	1084	V>A	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773000314 RCV001125385 CA8584572	1137	E>K	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs768159533 CA8584600 RCV001127472	1147	S>L	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8584617 rs117902541 RCV000293015	1173	P>Q	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000352617 rs761259011 CA8584620	1175	I>V	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs137853095 CA254228 VAR_017591	1185	R>C	PHA2B [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA8584639 RCV001127473 rs200519604	1199	R>C	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8584637 COSM371790 COSM371789 rs200519604 RCV000393657	1199	R>S	lung Pseudohypoaldosteronism type 2B [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs56116165 RCV000883389 CA8584644 RCV000279946	1204	R>C	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA399672577 rs756125712 RCV000584086	1220	G>V	Pseudohypoaldosteronism type 2B [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8583586 rs775594265	4	S>F		No	ClinGen ExAC TOPMed gnomAD
CA399640551 rs1209583360	6	A>D		No	ClinGen gnomAD
CA399640566 rs1255296358	7	T>S		No	ClinGen gnomAD
CA399640600 rs1568024960	8	E>G		No	ClinGen Ensembl
rs1193625083 CA399640636	9	T>I		No	ClinGen gnomAD
rs1372289552 CA399640659	10	T>I		No	ClinGen gnomAD
CA290780101 rs933656010	12	L>F		No	ClinGen TOPMed gnomAD
rs1384170039 CA399640710	12	L>P		No	ClinGen TOPMed
CA399640743 rs1312403105	13	M>K		No	ClinGen gnomAD
rs760446306 CA8583593	13	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8583594 rs766110219	15	Q>*		No	ClinGen ExAC gnomAD
rs764738132 CA8583597	20	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1276221114 CA399640987	21	A>T		No	ClinGen gnomAD
CA399641006 rs752591503	22	L>M		No	ClinGen ExAC TOPMed gnomAD
CA8583598 rs752591503	22	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8583600 rs368683340	23	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs371972656 CA290780126	24	P>S		No	ClinGen ESP TOPMed
CA290780125 rs371972656	24	P>T		No	ClinGen ESP TOPMed
rs1445098705 CA399641060	25	P>L		No	ClinGen gnomAD
rs1445098705 CA399641058	25	P>Q		No	ClinGen gnomAD
rs1255097319 CA399641069	26	P>L		No	ClinGen gnomAD
CA8583604 rs756995575	26	P>S		No	ClinGen ExAC TOPMed gnomAD
CA399641078 rs1393364707	27	P>L		No	ClinGen TOPMed gnomAD
rs749459405 CA399641072	27	P>S		No	ClinGen ExAC gnomAD
rs749459405 CA8583607	27	P>T		No	ClinGen ExAC gnomAD
rs774472658 CA8583608	28	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1159689367 CA399641113	29	G>D		No	ClinGen gnomAD
CA399641152 rs1328416872	31	A>S		No	ClinGen gnomAD
CA8583612 rs772673471	33	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA290780143 rs969905249	35	R>C		No	ClinGen TOPMed
rs761145984 CA8583614	35	R>H		No	ClinGen ExAC TOPMed gnomAD
rs761145984 CA290780156	35	R>L		No	ClinGen ExAC TOPMed gnomAD
CA399641250 rs969905249	35	R>S		No	ClinGen TOPMed
CA8583615 rs766814362	37	G>E		No	ClinGen ExAC gnomAD
CA399641310 rs1434140965	37	G>R		No	ClinGen TOPMed gnomAD
rs542693543 CA8583616	38	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1253400714 CA399641347	38	P>R		No	ClinGen gnomAD
rs542693543 CA399641337	38	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1193267773 CA399641369	39	P>A		No	ClinGen TOPMed gnomAD
rs1012246606 CA290780171	39	P>H		No	ClinGen TOPMed gnomAD
rs1012246606 CA399641376	39	P>L		No	ClinGen TOPMed gnomAD
CA399641373 rs1193267773	39	P>S		No	ClinGen TOPMed gnomAD
rs759170365 CA8583617	41	R>G		No	ClinGen ExAC gnomAD
rs764712635 CA8583618	41	R>H		No	ClinGen ExAC gnomAD
CA399641435 rs1363717726	42	R>G		No	ClinGen gnomAD
CA8583619 rs374001790	42	R>L		No	ClinGen ExAC TOPMed gnomAD
CA399641448 rs374001790	42	R>P		No	ClinGen ExAC TOPMed gnomAD
rs374001790 CA290780179	42	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA399641479 rs1167462538	44	R>G		No	ClinGen gnomAD
rs758373345 CA8583620	46	F>L		No	ClinGen ExAC gnomAD
rs758373345 CA399641510	46	F>V		No	ClinGen ExAC gnomAD
rs764040354 CA8583621	47	S>C		No	ClinGen ExAC
CA399641554 rs1375123496	48	G>E		No	ClinGen gnomAD
rs757050478 CA8583624	48	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8583623 rs757050478	48	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8583625 rs529976001	50	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8583626 rs755221021	51	E>*		No	ClinGen ExAC gnomAD
CA399641654 rs778896525	52	P>A		No	ClinGen ExAC TOPMed gnomAD
rs748218580 CA8583628	52	P>L		No	ClinGen ExAC gnomAD
rs778896525 CA8583627	52	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1273529123 CA399641678	53	R>W		No	ClinGen TOPMed gnomAD
CA399641700 rs1211634326	54	P>L		No	ClinGen TOPMed gnomAD
CA399641691 rs1333933200	54	P>S		No	ClinGen gnomAD
rs1333933200 CA399641689	54	P>T		No	ClinGen gnomAD
COSM1740378 CA8583629 rs201419013 COSM1740379	55	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs955842877 CA399641721	55	R>L		No	ClinGen TOPMed gnomAD
CA399641718 rs955842877	55	R>P		No	ClinGen TOPMed gnomAD
CA8583630 rs778456079	58	R>C		No	ClinGen ExAC gnomAD
rs778456079 CA8583631	58	R>G		No	ClinGen ExAC gnomAD
CA399641793 rs1383418506	58	R>L		No	ClinGen TOPMed
rs778456079 CA399641782	58	R>S		No	ClinGen ExAC gnomAD
rs1417787388 CA399641807	59	L>H		No	ClinGen TOPMed gnomAD
rs1417787388 CA399641815	59	L>R		No	ClinGen TOPMed gnomAD
rs375444500 CA8583632	61	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8583633 rs777044920	65	V>I		No	ClinGen ExAC gnomAD
rs1466835288 CA399642058	68	G>E		No	ClinGen TOPMed
CA290780234 rs369689386	70	L>R		No	ClinGen ESP TOPMed gnomAD
rs1424980432 CA399642193	73	W>*		No	ClinGen TOPMed
CA8583638 rs763524017	74	S>F		No	ClinGen ExAC gnomAD
rs1597892509 CA399642255	76	P>L		No	ClinGen Ensembl
CA8583641 rs767281441	77	A>V		No	ClinGen ExAC TOPMed gnomAD
CA399642330 rs1309411478	78	S>L		No	ClinGen gnomAD
rs1228440639 CA399642347	79	P>R		No	ClinGen gnomAD
rs1261254331 CA399642336	79	P>T		No	ClinGen TOPMed
rs532571292 CA8583643	80	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399642389 rs1258800308	81	P>L		No	ClinGen gnomAD
CA8583650 rs777941971	82	D>G		No	ClinGen ExAC
rs368949418 CA290780242	82	D>N		No	ClinGen ESP ExAC
CA8583647 rs368949418	82	D>Y		No	ClinGen ESP ExAC
rs941090412 CA399642428	83	P>A		No	ClinGen gnomAD
rs771468515 CA8583652	83	P>L		No	ClinGen ExAC gnomAD
rs941090412 CA290780252	83	P>S		No	ClinGen gnomAD
CA290780255 rs781453781	84	P>H		No	ClinGen ExAC TOPMed gnomAD
CA8583653 rs781453781	84	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8583654 rs781453781	84	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1038307868 CA290780265	85	D>G		No	ClinGen TOPMed gnomAD
rs1374772034 CA399642476	86	P>L		No	ClinGen gnomAD
rs775125625 CA8583656	87	P>L		No	ClinGen ExAC gnomAD
CA8583658 rs375244096	88	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA399642548 rs199712166	90	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8583660 rs199712166	90	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA290780278 rs993711514	91	G>R		No	ClinGen TOPMed gnomAD
rs993711514 CA399642560	91	G>S		No	ClinGen TOPMed gnomAD
CA399642617 rs750277646	94	P>A		No	ClinGen ExAC TOPMed gnomAD
rs750277646 CA8583662	94	P>S		No	ClinGen ExAC TOPMed gnomAD
rs895501031 CA290780279	95	A>S		No	ClinGen TOPMed gnomAD
rs1013906383 CA290780281	97	S>N		No	ClinGen TOPMed gnomAD
rs530404486 CA399642680	98	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530404486 CA8583665	98	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758683954 CA8583666	99	P>L		No	ClinGen ExAC gnomAD
rs905650107 CA290780290	100	P>A		No	ClinGen TOPMed gnomAD
rs757756666 CA8583669	102	S>F		No	ClinGen ExAC gnomAD
rs1432727643 CA399642750	103	K>E		No	ClinGen gnomAD
CA8583670 rs781737018	104	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1429739780 CA399642804	105	P>L		No	ClinGen gnomAD
CA399642802 rs1429739780	105	P>R		No	ClinGen gnomAD
CA399642792 rs770042278	105	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8583671 rs770042278	105	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1250326367 CA399642824	106	P>R		No	ClinGen TOPMed
rs1370383373 CA399643985	110	W>*		No	ClinGen gnomAD
rs1031030192 CA290780296	110	W>R		No	ClinGen gnomAD
CA399644039 rs1286931727	113	G>E		No	ClinGen gnomAD
CA399644057 rs1293029255	114	A>D		No	ClinGen Ensembl
CA290780298 rs1033267727	114	A>S		No	ClinGen TOPMed
CA399644126 rs1215518541	118	A>T		No	ClinGen gnomAD
CA399644153 rs1266637548	119	A>E		No	ClinGen TOPMed gnomAD
rs1227098021 CA399644143	119	A>T		No	ClinGen TOPMed gnomAD
rs1469488518 CA399644236	123	A>S		No	ClinGen gnomAD
CA399644257 rs1193897791	123	A>V		No	ClinGen gnomAD
CA8583672 rs756510719	124	R>C		No	ClinGen ExAC TOPMed gnomAD
rs369221665 CA8583673	125	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399644319 rs1400112586	126	E>D		No	ClinGen gnomAD
CA399644322 rs1400112586	126	E>D		No	ClinGen gnomAD
rs768265638 CA8583675	126	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8583676 rs773898452	128	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8583678 rs771445340	130	S>F		No	ClinGen ExAC gnomAD
CA8583680 rs760473206	132	V>M		No	ClinGen ExAC gnomAD
CA399644478 rs1434384289	134	P>L		No	ClinGen gnomAD
rs1413641759 CA399644523	137	R>M		No	ClinGen Ensembl
rs1223732049 CA399644536	138	E>K		No	ClinGen gnomAD
CA399644552 rs1286799702	138	E>V		No	ClinGen gnomAD
CA399644567 rs1183881802	139	P>L		No	ClinGen TOPMed
CA399644582 rs1597892755	140	L>Q		No	ClinGen Ensembl
rs988746221 CA290780340	140	L>V		No	ClinGen TOPMed
rs955324851 CA290780347	143	P>R		No	ClinGen TOPMed gnomAD
rs763311211 CA8583683	147	A>V		No	ClinGen ExAC gnomAD
rs1351834506 COSM1232812 CA399644786 COSM1232811	151	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA399644784 rs987915553	151	R>W		No	ClinGen TOPMed gnomAD
CA399644792 rs1475401324	152	R>G		No	ClinGen gnomAD
CA8583685 rs751786119	152	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1475401324 CA399644794	152	R>W		No	ClinGen gnomAD
CA8583687 rs767434850	153	E>D		No	ClinGen ExAC gnomAD
CA8583686 rs78058990	153	E>G		No	ClinGen ExAC TOPMed gnomAD
CA399644811 rs1597892820	154	Q>E		No	ClinGen Ensembl
CA399644818 rs1597892826	154	Q>R		No	ClinGen Ensembl
CA399644841 rs1597892833	155	E>G		No	ClinGen Ensembl
CA290780372 rs910629872	157	K>M		No	ClinGen TOPMed
CA399644907 rs1335626443	158	E>V		No	ClinGen TOPMed
CA8583689 rs373246842	159	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA399644923 rs1413837426	159	D>N		No	ClinGen gnomAD
rs918337920 CA290780402	160	M>T		No	ClinGen TOPMed
rs780436160 CA8583690	160	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8583691 rs140344387	165	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs755285220 CA8583692	167	T>A		No	ClinGen ExAC gnomAD
CA8583693 rs376782226	167	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA290780429 rs929529153	170	D>N		No	ClinGen TOPMed gnomAD
CA290780433 rs918041844	170	D>V		No	ClinGen Ensembl
rs948351014 CA290780469	171	G>D		No	ClinGen gnomAD
CA399645264 rs1266224178	172	R>*		No	ClinGen TOPMed
CA8583697 rs772583223	173	Y>C		No	ClinGen ExAC
rs1436692387 CA399645355	175	K>R		No	ClinGen gnomAD
rs749438457 CA290780482	178	I>T		No	ClinGen TOPMed gnomAD
rs1285931718 CA399645534	182	R>H		No	ClinGen TOPMed
CA399645614 rs1485998067	185	F>L		No	ClinGen gnomAD
CA290780484 rs896097275	186	K>R		No	ClinGen TOPMed
rs747038310 CA8583699	188	V>A		No	ClinGen ExAC gnomAD
CA8583700 rs770964274	189	Y>C		No	ClinGen ExAC gnomAD
CA399645778 rs1597892970	194	T>A		No	ClinGen Ensembl
CA8583703 rs765055427	196	T>N		No	ClinGen ExAC TOPMed gnomAD
CA399645912 rs1597893001	200	V>G		No	ClinGen Ensembl
rs1415939973 CA399645895	200	V>M		No	ClinGen gnomAD
rs892540919 CA290780511	202	W>*		No	ClinGen Ensembl
CA399645964 rs1597893013	203	C>G		No	ClinGen Ensembl
rs375355128 CA8583729	208	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201212813 CA8583728	208	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399646398 rs1385725640	215	R>Q		No	ClinGen TOPMed gnomAD
CA8583733 rs777315882	217	R>C		No	ClinGen ExAC TOPMed gnomAD
rs374594203 CA8583734	217	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA290781190 rs1019672837	220	E>D		No	ClinGen TOPMed gnomAD
rs780833279 CA8583736	220	E>G		No	ClinGen ExAC gnomAD
CA290781192 rs982460172	221	E>K		No	ClinGen Ensembl
rs1597894250 CA399646535	222	V>G		No	ClinGen Ensembl
rs963735853 CA290781193	223	E>*		No	ClinGen TOPMed
rs745863022 CA8583737	224	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1174522447 CA399646605	225	L>F		No	ClinGen gnomAD
rs1265374643 CA399646689	228	L>R		No	ClinGen gnomAD
CA290781198 rs75596106	228	L>V		No	ClinGen Ensembl
CA399646747 rs1597894285	230	H>P		No	ClinGen Ensembl
CA8583740 rs749059920	231	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1167627965 CA399646806	233	I>V		No	ClinGen gnomAD
COSM1128698 CA8583743 rs760831283 COSM1128696	234	V>I	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8583744 rs771058697	235	R>C		No	ClinGen ExAC TOPMed gnomAD
CA290781223 rs893450739	235	R>H		No	ClinGen gnomAD
CA399646927 rs1391857663	237	Y>C		No	ClinGen gnomAD
CA399646984 rs199775692	239	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8583746 rs199775692 COSM130225	239	S>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA399647048 rs1234900128	241	K>R		No	ClinGen gnomAD
CA8583749 rs763260771	242	S>L		No	ClinGen ExAC gnomAD
rs751311612 CA8583751	243	V>M		No	ClinGen ExAC gnomAD
rs767171910 CA8583753	244	L>P		No	ClinGen ExAC TOPMed gnomAD
rs749927256 CA399647156	245	R>S		No	ClinGen ExAC gnomAD
rs1597894347 CA399647227	248	V>G		No	ClinGen Ensembl
CA8583755 rs755635707	249	C>*		No	ClinGen ExAC gnomAD
CA399647241 rs1363525105	249	C>Y		No	ClinGen TOPMed
CA8583756 rs779887216	250	I>F		No	ClinGen ExAC gnomAD
rs1422832341 CA399647290	250	I>M		No	ClinGen TOPMed gnomAD
CA290781242 rs926556695	251	V>L		No	ClinGen TOPMed gnomAD
rs778757727 COSM1176430 CA8583759 COSM1176431	255	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs747301058 CA8583760	256	L>P		No	ClinGen ExAC gnomAD
rs1568026431 CA399647435	257	M>R		No	ClinGen Ensembl
CA399647425 rs1313210406	257	M>V		No	ClinGen gnomAD
CA399647454 rs1442584844 COSM1740339 COSM1740340	258	T>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA290781255 rs138156012	259	S>L		No	ClinGen ESP
CA399647455 rs1378208761	259	S>T		No	ClinGen gnomAD
rs1310816536 CA399647464	260	G>D		No	ClinGen gnomAD
rs776744588 CA8583762	261	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1262971593 CA399647501	263	K>R		No	ClinGen Ensembl
CA399647519 rs1258212268	264	T>M		No	ClinGen TOPMed
rs1597895180 CA399648900	265	Y>S		No	ClinGen Ensembl
rs1449271462 CA399648965	268	R>Q		No	ClinGen gnomAD
CA399649001 rs1283217342	269	F>L		No	ClinGen gnomAD
CA399649014 rs1297028628 COSM296537 COSM296538	270	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA399649031 rs1394321496	271	E>G		No	ClinGen TOPMed
rs1452325267 CA399649029	271	E>K		No	ClinGen TOPMed
CA8583809 rs776100038	272	M>I		No	ClinGen ExAC gnomAD
CA8583810 rs759121084	273	K>R		No	ClinGen ExAC gnomAD
rs1568026991 CA399649125	275	R>W		No	ClinGen Ensembl
rs752647685 CA8583814	276	V>A		No	ClinGen ExAC gnomAD
rs752647685 CA399649135	276	V>G		No	ClinGen ExAC gnomAD
rs112475091 CA290781860	279	R>H		No	ClinGen Ensembl
rs532963074 CA8583816	280	W>*		No	ClinGen 1000Genomes ExAC gnomAD
rs762867415 CA399649226	280	W>G		No	ClinGen ExAC gnomAD
rs762867415 CA8583815	280	W>R		No	ClinGen ExAC gnomAD
CA399649255 rs1259614157	281	S>N		No	ClinGen TOPMed
CA399649263 rs1282432551	282	R>C		No	ClinGen gnomAD
CA399649260 rs1282432551	282	R>G		No	ClinGen gnomAD
rs754121242 CA290781876	282	R>H		No	ClinGen Ensembl
rs1186644309 CA399649328	284	I>T		No	ClinGen gnomAD
CA290781883 rs1011580006	286	R>Q		No	ClinGen Ensembl
CA399649355 rs1568027045	286	R>W		No	ClinGen Ensembl
CA399649386 rs1190522985	287	G>E		No	ClinGen gnomAD
CA399649400 rs756949847	289	H>N		No	ClinGen ExAC gnomAD
CA8583820 rs780351603	289	H>P		No	ClinGen ExAC gnomAD
rs756949847 CA8583819	289	H>Y		No	ClinGen ExAC gnomAD
CA399649458 rs1167230262	291	L>V		No	ClinGen gnomAD
rs566468120 CA8583821	292	H>P		No	ClinGen 1000Genomes ExAC gnomAD
rs566468120 CA8583822	292	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs146556309 CA8583823	293	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA399649573 rs1432476409	296	P>T		No	ClinGen gnomAD
CA399649622 rs1275729639	297	P>R		No	ClinGen TOPMed
rs1363786409 CA399649646	298	I>T		No	ClinGen gnomAD
CA8583825 rs772677276	298	I>V		No	ClinGen ExAC gnomAD
rs778048173 CA8583826	301	R>G		No	ClinGen ExAC TOPMed gnomAD
CA399649736 rs778048173	301	R>W		No	ClinGen ExAC TOPMed gnomAD
CA399649799 rs1396653540	302	D>E		No	ClinGen TOPMed
rs747424461 CA8583827	302	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8583828 rs755199788	305	C>*		No	ClinGen ExAC gnomAD
rs776352888 CA399649961	306	D>E		No	ClinGen ExAC gnomAD
rs759056532 CA8583830	307	N>S		No	ClinGen ExAC gnomAD
CA399650201 rs1168948561	314	T>A		No	ClinGen TOPMed
CA290781985 rs368501387	314	T>I		No	ClinGen ESP gnomAD
rs761672066 CA399650351	320	G>R		No	ClinGen ExAC TOPMed gnomAD
rs761672066 CA8583836	320	G>R		No	ClinGen ExAC TOPMed gnomAD
rs767158498 CA8583837	321	D>E		No	ClinGen ExAC gnomAD
CA8583838 rs754147577	322	L>M		No	ClinGen ExAC gnomAD
CA399650408 rs1463657792	322	L>Q		No	ClinGen gnomAD
CA399650429 rs1387526963	323	G>D		No	ClinGen gnomAD
RCV000054791 rs387907559 CA216494	325	A>T		No	ClinGen ClinVar Ensembl dbSNP
rs755245471 CA399650477	326	T>K		No	ClinGen ExAC TOPMed gnomAD
rs755245471 CA8583839	326	T>M		No	ClinGen ExAC TOPMed gnomAD
CA399650486 rs1257580982	327	L>V		No	ClinGen TOPMed
CA8583840 rs142280606	329	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399650519 rs142280606	329	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1274944321 CA399650532	329	R>H		No	ClinGen TOPMed
CA399650567 rs1352540784	331	S>Y		No	ClinGen gnomAD
CA8583842 rs758505108	333	A>S		No	ClinGen ExAC
rs373585658 CA290782019	338	G>R		No	ClinGen TOPMed gnomAD
rs373585658 CA399650775	338	G>R		No	ClinGen TOPMed gnomAD
CA399650985 rs1307129408	340	P>L		No	ClinGen gnomAD
rs1290297670 CA399650977	340	P>S		No	ClinGen gnomAD
rs781653915 CA8583864	342	F>I		No	ClinGen ExAC gnomAD
rs1315091436 CA399651097	343	M>K		No	ClinGen gnomAD
CA399651143 rs1394996289	344	A>T		No	ClinGen gnomAD
rs1468233625 CA399651161	344	A>V		No	ClinGen TOPMed
rs1040324609 CA290782183	345	P>A		No	ClinGen TOPMed gnomAD
CA8583865 rs746249218	345	P>L		No	ClinGen ExAC gnomAD
rs756427814 CA8583866	347	M>K		No	ClinGen ExAC TOPMed gnomAD
rs756427814 CA399651246	347	M>T		No	ClinGen ExAC TOPMed gnomAD
CA399651319 rs1344873604	349	E>K		No	ClinGen gnomAD
rs375379956 CA290782201	351	K>E		No	ClinGen ESP TOPMed
CA8583867 rs76310211	352	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA290782202 rs573563788	353	D>G		No	ClinGen 1000Genomes
CA290782204 rs368410238	354	E>G		No	ClinGen ESP
CA399651591 rs1287421925	356	V>A		No	ClinGen gnomAD
CA290782206 rs996055546	359	Y>D		No	ClinGen Ensembl
rs1184025014 CA399651676	360	A>V		No	ClinGen gnomAD
rs768268589 CA8583869	362	G>D		No	ClinGen ExAC TOPMed gnomAD
CA399651703 rs1422885374	362	G>S		No	ClinGen TOPMed gnomAD
rs1350169847 CA399651752	363	M>I		No	ClinGen TOPMed
rs1275710537 CA399651767	364	C>G		No	ClinGen TOPMed
CA8583870 rs773729601	365	M>I		No	ClinGen ExAC TOPMed gnomAD
CA399651823 rs773729601	365	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1568027491 RCV000722514 CA891863105	365	M>I		No	ClinGen ClinVar Ensembl dbSNP
rs1391507237 CA399651806	365	M>L		No	ClinGen gnomAD
CA8583873 rs771882874	367	E>D		No	ClinGen ExAC gnomAD
rs147522675 CA290782218	368	M>V		No	ClinGen ESP
CA8583874 rs760579259	370	T>P		No	ClinGen ExAC gnomAD
rs867408305 CA290782228	372	E>K		No	ClinGen Ensembl
CA8583877 rs1555656990	373	Y>C		No	ClinGen Ensembl
rs1568027539 CA399652111	376	S>A		No	ClinGen Ensembl
CA399652129 rs1312960603	377	E>G		No	ClinGen gnomAD
CA399652123 rs1319663387	377	E>Q		No	ClinGen TOPMed
rs764305741 CA8583882	378	C>W		No	ClinGen ExAC TOPMed gnomAD
CA399652159 rs1229296190	379	Q>R		No	ClinGen gnomAD
rs751566412 CA8583883	380	N>T		No	ClinGen ExAC
rs761900901 CA8583884	381	A>T		No	ClinGen ExAC gnomAD
CA399652192 rs1306342028	381	A>V		No	ClinGen gnomAD
rs767936172 CA8583885	382	A>E		No	ClinGen ExAC
rs1256967515 CA399652200	382	A>T		No	ClinGen TOPMed gnomAD
CA8583886 rs369228385	384	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8583888 rs758915940	386	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753553427 CA8583889	386	R>H		No	ClinGen ExAC TOPMed gnomAD
rs753553427 CA8583890	386	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1250472784 CA399652351	388	V>G		No	ClinGen TOPMed
CA8583892 rs562287465	389	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs757861128 CA8583911	391	G>D		No	ClinGen ExAC gnomAD
CA290782711 rs979156318	395	N>S		No	ClinGen TOPMed gnomAD
rs747012532 CA8583913	396	S>N		No	ClinGen ExAC gnomAD
CA399653614 rs1475275438	398	H>L		No	ClinGen TOPMed
rs1419550873 CA399653618	398	H>Q		No	ClinGen TOPMed
rs770965962 CA8583914	399	K>T		No	ClinGen ExAC
rs1568027880 CA399653651	401	K>E		No	ClinGen Ensembl
CA399653701 rs1246053705	402	I>M		No	ClinGen gnomAD
CA399653705 rs1415270317	403	P>S		No	ClinGen gnomAD
CA8583918 rs531325964	405	V>M		No	ClinGen ExAC gnomAD
CA8583919 rs774447184	407	E>*		No	ClinGen ExAC gnomAD
rs369420670 CA216474 RCV000054781	408	I>F		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP
CA8583920 rs373485019	408	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1251284253 CA399653854	409	I>T		No	ClinGen TOPMed
rs1473018945 CA399653849	409	I>V		No	ClinGen gnomAD
CA8583921 rs544723011	411	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA399653892 rs544723011	411	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs761218081 CA8583922	413	I>V		No	ClinGen ExAC gnomAD
CA8583924 rs370300499	414	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8583925 rs370300499	414	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8583923 rs377462363	414	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349751636 CA399653960	415	T>M		No	ClinGen gnomAD
CA8583927 rs752352411	416	D>E		No	ClinGen ExAC TOPMed gnomAD
rs765580426 CA8583926	416	D>V		No	ClinGen ExAC gnomAD
rs373040449 CA290783728	418	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8583930 rs763740545	419	E>*		No	ClinGen ExAC gnomAD
rs751095105 CA8583931	419	E>G		No	ClinGen ExAC gnomAD
CA290783810 rs1032118484	422	T>I		No	ClinGen Ensembl
rs965389283 CA290783816	423	I>T		No	ClinGen TOPMed
CA399654214 rs1281539206	425	D>V		No	ClinGen TOPMed
CA8583950 rs767037589	425	D>Y		No	ClinGen ExAC gnomAD
CA399654242 rs1166471053	427	L>P		No	ClinGen gnomAD
rs779760596 CA399654247	428	A>D		No	ClinGen ExAC TOPMed gnomAD
CA8583953 rs779760596	428	A>G		No	ClinGen ExAC TOPMed gnomAD
CA290783829 rs921342603	429	H>P		No	ClinGen Ensembl
CA399654264 rs1415443774	430	A>T		No	ClinGen gnomAD
rs1373132601 CA399654280	431	F>V		No	ClinGen TOPMed
CA399654310 rs1436642335	433	R>C		No	ClinGen gnomAD
CA399654325 rs1320653192	434	E>G		No	ClinGen gnomAD
CA399654352 rs1364307756	436	R>C		No	ClinGen gnomAD
rs1364307756 CA399654348	436	R>S		No	ClinGen gnomAD
CA8583956 rs777975684	437	G>C		No	ClinGen ExAC TOPMed gnomAD
CA399654365 COSM3421582 COSM3421583 rs777975684	437	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399654373 rs1345421558	437	G>V		No	ClinGen gnomAD
rs1159999680 CA399654398	440	V>M		No	ClinGen TOPMed
rs771058511 CA8583957	443	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1434842159 CA399654422	444	E>Q		No	ClinGen gnomAD
rs746404916 CA8583959	445	E>D		No	ClinGen ExAC TOPMed gnomAD
rs566923583 CA399654444	447	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8583962 rs763446727	448	G>C		No	ClinGen ExAC gnomAD
CA8583963 rs763446727	448	G>S		No	ClinGen ExAC gnomAD
CA8583965 rs373109872	449	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373109872 CA8583966	449	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs61754356 CA8583967	451	P>L		No	ClinGen ExAC TOPMed gnomAD
rs61754356 CA399654472	451	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1159206204 COSM979632 CA399654476 COSM979633	452	G>D	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs760054217 CA8583968	452	G>R		No	ClinGen ExAC gnomAD
CA8583969 rs766371189	453	L>H		No	ClinGen ExAC gnomAD
CA399654496 rs1380072081	455	L>P		No	ClinGen gnomAD
CA399654501 rs1331674235	456	W>*		No	ClinGen gnomAD
rs368869602 CA8583971	458	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230500079 CA399654518	459	M>L		No	ClinGen gnomAD
CA399654548 rs372972035	463	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8583973 rs372972035	463	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA399654554 rs1292640359	464	R>C		No	ClinGen gnomAD
rs570613650 CA399654556	464	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs570613650 CA8583974	464	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs145499777 CA399654561	465	G>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs145499777 CA290783879	465	G>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs979123748 CA290783874	465	G>R		No	ClinGen TOPMed gnomAD
rs145499777 CA399654560	465	G>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1362919765 CA399654564	466	G>E		No	ClinGen gnomAD
CA290783896 rs1036266170	466	G>R		No	ClinGen TOPMed gnomAD
CA399654562 rs1036266170	466	G>R		No	ClinGen TOPMed gnomAD
CA399654570 rs1450988079	467	R>H		No	ClinGen gnomAD
rs1437023185 CA399654567	467	R>S		No	ClinGen TOPMed
rs1164498059 CA399654578	468	P>L		No	ClinGen gnomAD
CA290783904 rs370770635	469	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA399654579 rs1301021422	469	R>Q		No	ClinGen gnomAD
CA8583981 rs769207672	471	N>K		No	ClinGen ExAC gnomAD
CA399654595 rs769207672	471	N>K		No	ClinGen ExAC gnomAD
CA8583980 rs749796303	471	N>S		No	ClinGen ExAC gnomAD
rs1236891279 CA399654608	473	A>V		No	ClinGen gnomAD
rs761605586 CA8583984	475	E>D		No	ClinGen ExAC gnomAD
CA399654616 rs1267323571	475	E>K		No	ClinGen gnomAD
CA399654634 rs1222353404	477	L>P		No	ClinGen gnomAD
CA8583985 rs772699552	479	Q>H		No	ClinGen ExAC gnomAD
CA8583987 rs765749007	482	R>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000054783 rs387907556 COSM1383447 COSM1383448 CA216478	482	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs753831449 CA8583988	483	D>E		No	ClinGen ExAC gnomAD
CA399654735 rs1188965960	484	A>T		No	ClinGen gnomAD
rs1446600356 CA399654747	484	A>V		No	ClinGen TOPMed
CA399654782 rs1372397646	486	E>D		No	ClinGen gnomAD
rs765059808 CA8583990	486	E>K		No	ClinGen ExAC TOPMed gnomAD
CA399654801 rs1297401164	487	E>D		No	ClinGen gnomAD
rs752469952 CA8583991	487	E>K		No	ClinGen ExAC TOPMed gnomAD
CA399654820 rs1597896797	488	V>G		No	ClinGen Ensembl
rs1395972443 CA399654809	488	V>L		No	ClinGen gnomAD
rs1395972443 CA399654811	488	V>M		No	ClinGen gnomAD
rs923141696 CA290783939	490	Q>R		No	ClinGen TOPMed gnomAD
rs1568028436 CA399654886	492	M>T		No	ClinGen Ensembl
CA399656007 rs1464986747	493	V>L		No	ClinGen gnomAD
rs746629627 CA290784901	494	A>G		No	ClinGen ExAC gnomAD
CA8584003 rs772930670	494	A>T		No	ClinGen ExAC gnomAD
CA8584004 rs746629627	494	A>V		No	ClinGen ExAC gnomAD
rs770542554 CA8584005	498	V>L		No	ClinGen ExAC TOPMed gnomAD
rs759521316 CA8584007	502	D>N		No	ClinGen ExAC TOPMed gnomAD
rs765184683 CA8584008	503	Y>S		No	ClinGen ExAC gnomAD
CA8584009 rs200593980	504	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs552956130 CA8584010	505	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1411547457 CA399656282	506	V>M		No	ClinGen gnomAD
rs201947637 CA8584011	508	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399656318 rs201947637	508	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8584014 rs143222801	509	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs531680448 CA8584015	510	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs146216767 CA8584016	511	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8584017 rs779595489 COSM3724183 COSM3724184	511	R>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA399656416 rs1258823274	513	R>Q		No	ClinGen gnomAD
rs758845858 CA8584019	513	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8584021 rs746741261	515	A>T		No	ClinGen ExAC TOPMed gnomAD
CA290785025 rs943640765	517	I>N		No	ClinGen TOPMed gnomAD
rs974649105 CA290785027	519	R>*		No	ClinGen gnomAD
rs139245311 CA8584022	519	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA399656567 rs1568029360 COSM979636 COSM979634	521	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs543639943 CA8584024	521	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8584025 rs769249445	522	E>*		No	ClinGen ExAC gnomAD
rs1597898164 CA399656597	522	E>D		No	ClinGen Ensembl
CA8584027 rs145020225	525	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs145020225 CA8584028	525	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8584030 rs373742806	528	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs766715002 CA8584031	529	E>K		No	ClinGen ExAC gnomAD
CA399656775 rs1381470552	532	A>G		No	ClinGen TOPMed
rs112963672 CA290785064	533	L>P		No	ClinGen Ensembl
CA399656784 rs1160906653	533	L>V		No	ClinGen TOPMed
CA290785066 rs895599804	535	P>S		No	ClinGen TOPMed gnomAD
rs765386370 CA8584034	537	P>Q		No	ClinGen ExAC gnomAD
rs772538146 CA290785069	538	G>E		No	ClinGen gnomAD
rs758825830 CA8584036	539	P>L		No	ClinGen ExAC gnomAD
CA8584035 rs753287071	539	P>S		No	ClinGen ExAC gnomAD
CA399656977 rs1199718085	543	T>P		No	ClinGen TOPMed
rs778257029 CA8584037	544	V>M		No	ClinGen ExAC gnomAD
rs751882141 CA8584038	546	M>L		No	ClinGen ExAC gnomAD
CA8584040 rs757547531	547	A>D		No	ClinGen ExAC TOPMed gnomAD
CA8584039 rs757547531	547	A>V		No	ClinGen ExAC TOPMed gnomAD
rs371668464 CA8584043	548	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA399657094 rs1351456322	548	P>L		No	ClinGen TOPMed
CA399657108 rs768493990	549	G>C		No	ClinGen ExAC TOPMed gnomAD
rs768493990 CA399657104	549	G>R		No	ClinGen ExAC TOPMed gnomAD
rs768493990 CA8584045	549	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1423054825 CA399657130	550	P>S		No	ClinGen gnomAD
CA399657174 rs1298822512	551	P>H		No	ClinGen TOPMed
rs1354703104 CA399657190	552	S>R		No	ClinGen gnomAD
CA8584047 rs761732493	552	S>T		No	ClinGen ExAC gnomAD
CA290785123 rs201848994	554	F>I		No	ClinGen 1000Genomes
rs1597898325 CA399657255	554	F>S		No	ClinGen Ensembl
CA8584052 rs57737815	555	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8584050 rs759800798	555	P>T		No	ClinGen ExAC gnomAD
CA8584053 rs56003090	556	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375998507 CA399657331	556	P>H		No	ClinGen TOPMed
CA399657328 rs56003090	556	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374889836 CA8584056	558	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs193922734 CA16044426	560	E>G		No	ClinGen Ensembl
rs1166745711 CA399657415	561	P>A		No	ClinGen TOPMed gnomAD
CA16044427 rs193922735	561	P>L		No	ClinGen Ensembl
rs193922736 CA16044428	564	D>H		No	ClinGen Ensembl
rs1597898405 CA399657534	566	H>P		No	ClinGen Ensembl
CA290785160 rs891599658	567	Q>R		No	ClinGen Ensembl
CA290785161 rs570673973	569	F>I		No	ClinGen 1000Genomes
CA8584059 rs750147468	572	R>C		No	ClinGen ExAC TOPMed gnomAD
CA290785168 rs534475832	572	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA399657677 rs534475832	572	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs1169965828 CA399657699	573	H>Y		No	ClinGen gnomAD
CA8584062 rs748755460	574	A>S		No	ClinGen ExAC gnomAD
CA8584063 rs748755460	574	A>T		No	ClinGen ExAC gnomAD
CA8584064 rs778739051	577	S>L		No	ClinGen ExAC gnomAD
rs1452646256 CA399657866	579	T>I		No	ClinGen gnomAD
rs748163295 CA8584087	584	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1051042573 CA290785400	587	G>A		No	ClinGen TOPMed
rs1008922795 CA290785391	587	G>C		No	ClinGen TOPMed
rs1051042573 CA290785395	587	G>D		No	ClinGen TOPMed
rs1290994248 CA399658113	588	Y>S		No	ClinGen TOPMed
CA399658199 rs1230434654	592	S>P		No	ClinGen TOPMed
rs746803815 CA8584091	593	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1241513944 CA399658232	593	G>V		No	ClinGen TOPMed
rs1597898759 CA399658287	597	A>G		No	ClinGen Ensembl
CA8584093 rs775595164	598	S>L		No	ClinGen ExAC gnomAD
rs1329422185 CA399658316	599	D>E		No	ClinGen TOPMed
rs749500237 CA8584094	599	D>H		No	ClinGen ExAC gnomAD
CA399658346 rs55781437	601	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA290785419 rs942570657	601	A>V		No	ClinGen Ensembl
CA8584098 rs761827024	602	L>F		No	ClinGen ExAC
rs1282880585 CA399658361	602	L>P		No	ClinGen gnomAD
CA8584099 rs768020150	603	Q>H		No	ClinGen ExAC gnomAD
CA399658407 rs1241202617	605	P>R		No	ClinGen gnomAD
CA290785441 rs950999148	605	P>S		No	ClinGen TOPMed
CA8584102 rs773671544	606	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1280233440 CA399658414	606	G>R		No	ClinGen gnomAD
rs1280233440 CA399658413	606	G>R		No	ClinGen gnomAD
rs773671544 CA8584103	606	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1280233440 CA399658411	606	G>W		No	ClinGen gnomAD
CA8584106 rs754654053	607	G>W		No	ClinGen ExAC gnomAD
CA399658438 rs1597898867	608	V>G		No	ClinGen Ensembl
CA399658433 rs560033554	608	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399658431 rs560033554	608	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560033554 CA8584108	608	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399658444 rs1266248739	609	P>S		No	ClinGen gnomAD
CA8584110 rs377697081	610	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1291522636 CA399658497	613	A>V		No	ClinGen TOPMed
rs1362676961 CA399658514	615	S>T		No	ClinGen gnomAD
CA290785470 rs979831751	615	S>Y		No	ClinGen TOPMed
rs781005656 CA8584113	620	P>T		No	ClinGen ExAC gnomAD
rs749535153 CA8584114	621	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8584144 rs201356607	622	A>G		No	ClinGen ExAC gnomAD
rs770232234 CA8584145	625	L>V		No	ClinGen ExAC gnomAD
CA399658695 rs1204963138	626	S>P		No	ClinGen gnomAD
rs775328332 CA8584146	627	I>V		No	ClinGen ExAC gnomAD
rs781142521 CA8584148	629	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781142521 CA290785641	629	R>L		No	ClinGen ExAC TOPMed gnomAD
rs767524205 CA8584151	631	G>C		No	ClinGen ExAC gnomAD
RCV000054784 CA216480 rs387907557	631	G>D		No	ClinGen ClinVar Ensembl dbSNP
CA399658746 rs767524205	631	G>S		No	ClinGen ExAC gnomAD
rs755953605 CA8584153	632	P>A		No	ClinGen ExAC TOPMed gnomAD
CA290785666 rs755953605	632	P>S		No	ClinGen ExAC TOPMed gnomAD
rs368190514 CA290785667	634	S>I		No	ClinGen gnomAD
CA399658785 rs368190514	634	S>T		No	ClinGen gnomAD
rs772365868 CA290785668	635	D>N		No	ClinGen Ensembl
CA8584154 rs377536508	637	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8584156 rs61755602	639	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61755602 CA8584157	639	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8584159 rs770873322	640	D>G		No	ClinGen ExAC gnomAD
rs199767685 CA8584158	640	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399658851 rs199767685	640	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317159950 CA399658917	642	Y>C		No	ClinGen TOPMed
CA399658943 rs1288840384	644	S>L		No	ClinGen gnomAD
rs1009577884 CA290785758	644	S>P		No	ClinGen TOPMed
CA399658965 rs1235927120	646	A>S		No	ClinGen gnomAD
rs766917636 CA8584170	647	A>S		No	ClinGen ExAC gnomAD
rs773243141 CA8584171	648	S>*		No	ClinGen ExAC gnomAD
CA8584172 rs537003369	649	G>D		No	ClinGen 1000Genomes ExAC
rs1283524662 CA399659015	651	S>N		No	ClinGen gnomAD
rs376641891 CA8584174	652	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA399659032 rs1448577051	652	D>V		No	ClinGen TOPMed
CA290785764 rs987538905	656	G>E		No	ClinGen TOPMed gnomAD
rs374463256 CA8584175	656	G>R		No	ClinGen ESP ExAC gnomAD
rs1458674445 CA399659099	657	M>I		No	ClinGen TOPMed
rs1297981557 CA399659092	657	M>L		No	ClinGen TOPMed
CA399659170 rs764406058	663	P>A		No	ClinGen ExAC TOPMed gnomAD
COSM979642 rs764406058 CA8584177 COSM979640	663	P>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399659168 rs764406058	663	P>T		No	ClinGen ExAC TOPMed gnomAD
rs751681621 CA8584178	664	P>L		No	ClinGen ExAC gnomAD
rs1222959674 CA399659194	665	G>E		No	ClinGen gnomAD
rs1490777594 CA399659187	665	G>R		No	ClinGen gnomAD
rs912513607 CA290785773	667	N>Y		No	ClinGen TOPMed
CA399659231 rs1381043308	668	L>R		No	ClinGen TOPMed
rs146190504 CA8584180	669	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs746440189 CA8584181	670	R>C		No	ClinGen ExAC TOPMed gnomAD
rs367768336 CA399659245	670	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs780644872 CA8584183	672	P>S		No	ClinGen ExAC gnomAD
CA399659253 rs780644872	672	P>T		No	ClinGen ExAC gnomAD
rs749704694 CA8584184	673	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8584185 rs558673835	673	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399659266 rs1304148926	674	S>F		No	ClinGen gnomAD
CA8584187 COSM1581947 COSM1581946 rs202162490	675	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs61755604 CA8584186	675	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs776511093 CA8584192	678	V>L		No	ClinGen ExAC gnomAD
CA399659292 rs1246375929	680	S>N		No	ClinGen TOPMed gnomAD
rs770376195 CA8584210	681	V>F		No	ClinGen ExAC gnomAD
CA290785966 rs751240549	682	S>*		No	ClinGen Ensembl
CA8584211 rs776597457	686	D>Y		No	ClinGen ExAC gnomAD
rs1419729198 CA399659354	687	R>I		No	ClinGen gnomAD
rs919729002 CA290785976	689	V>A		No	ClinGen Ensembl
CA399659363 rs1464807630	689	V>I		No	ClinGen gnomAD
CA399659373 rs1334947284	690	E>A		No	ClinGen TOPMed
rs1326310509 CA399659368	690	E>K		No	ClinGen TOPMed
rs746267751 CA290785981	691	C>W		No	ClinGen Ensembl
CA8584214 rs142471423	694	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1407629693 CA399659399	694	Q>R		No	ClinGen gnomAD
rs387907561 CA8584215	695	T>I		No	ClinGen ExAC gnomAD
CA216482 rs387907561 RCV000054785	695	T>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1336391677 CA399659411	696	H>R		No	ClinGen TOPMed
rs767667633 CA8584217	697	N>S		No	ClinGen ExAC gnomAD
rs554909535 CA290785999	698	S>N		No	ClinGen Ensembl
CA399659429 rs1214581159	699	K>Q		No	ClinGen gnomAD
CA399659467 rs1218219963	704	R>*		No	ClinGen TOPMed gnomAD
rs150554297 CA8584221	704	R>Q		No	ClinGen ESP ExAC gnomAD
rs1347052859 CA399659471	705	F>L		No	ClinGen Ensembl
rs1169391103 CA399659474	705	F>S		No	ClinGen TOPMed
CA399659494 rs1597899690	708	D>A		No	ClinGen Ensembl
CA399659492 rs1568030459	708	D>H		No	ClinGen Ensembl
CA8584222 rs755426868	712	P>L		No	ClinGen ExAC gnomAD
CA290786060 rs949055861	714	E>A		No	ClinGen Ensembl
CA399659545 rs1441214473	715	I>T		No	ClinGen gnomAD
rs1218336737 CA399659553	716	A>E		No	ClinGen gnomAD
CA399659560 rs1243024968	718	A>T		No	ClinGen gnomAD
CA8584224 rs753010428	719	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8584251 rs140819480	721	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1400231830 CA399660949	721	Y>H		No	ClinGen TOPMed
CA399660978 rs749223027	723	E>*		No	ClinGen ExAC TOPMed gnomAD
COSM979645 CA8584252 rs749223027 COSM979647	723	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399661030 rs1297633996	727	P>A		No	ClinGen TOPMed gnomAD
CA399661048 rs1387533241	728	S>L		No	ClinGen TOPMed gnomAD
CA8584254 rs370712588	729	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs747894873 CA8584255	730	R>*		No	ClinGen ExAC gnomAD
CA8584256 rs373527062	730	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA399661078 rs1353690930	731	D>G		No	ClinGen gnomAD
CA399661091 rs1294449131	732	G>E		No	ClinGen gnomAD
rs1190900978 CA399661088	732	G>R		No	ClinGen TOPMed
rs1360652789 CA399661104	733	F>S		No	ClinGen gnomAD
CA8584257 COSM3387911 COSM3387912 rs376404874	736	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM472838 rs775901741 COSM472837 CA8584260	738	R>W	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399661167 rs1484924188	739	E>*		No	ClinGen TOPMed gnomAD
rs201510716 CA8584263	740	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8584265 rs189584917 RCV000891801	742	Q>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA290790068 rs576059479	743	R>*		No	ClinGen TOPMed gnomAD
rs139570279 CA399661224	743	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8584266 rs139570279	743	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1432942872 CA399661233	744	V>E		No	ClinGen TOPMed
CA8584267 rs755622747	745	E>V		No	ClinGen ExAC gnomAD
rs1375134711 CA399661257	746	T>N		No	ClinGen TOPMed
CA399661280 rs1376767214	748	L>*		No	ClinGen gnomAD
CA290790099 rs895744241	748	L>F		No	ClinGen TOPMed
rs1186450195 CA399661300	749	K>E		No	ClinGen gnomAD
CA290790106 rs1013565375	752	T>A		No	ClinGen TOPMed
CA399661412 rs1341379920	754	P>S		No	ClinGen gnomAD
rs1244609193 CA399661433	755	M>I		No	ClinGen TOPMed gnomAD
rs1567653543 CA399661448	756	E>K		No	ClinGen Ensembl
rs1567653543 CA399661443	756	E>Q		No	ClinGen Ensembl
rs754979788 CA8584270	758	A>D		No	ClinGen ExAC TOPMed gnomAD
rs754979788 CA8584271	758	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8584272 rs200807433	760	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA399661569 rs1243679510	761	T>I		No	ClinGen gnomAD
rs746070122 CA8584276	764	P>R		No	ClinGen ExAC gnomAD
CA399661614 rs1236574678	764	P>T		No	ClinGen TOPMed
rs1276345059 CA399661946	768	P>R		No	ClinGen gnomAD
rs1272945913 CA399661950	769	A>P		No	ClinGen gnomAD
rs1347249609 CA399661968	770	P>A		No	ClinGen TOPMed gnomAD
rs1597903572 CA399661986	771	L>F		No	ClinGen Ensembl
CA399661997 rs1220262984	772	P>S		No	ClinGen gnomAD
CA399662023 rs1278541781	773	A>V		No	ClinGen gnomAD
rs747445147 CA8584346	774	L>P		No	ClinGen ExAC TOPMed gnomAD
rs200438705 CA8584350	776	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200438705 CA8584349	776	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399662100 rs1191102613	778	L>V		No	ClinGen gnomAD
rs1478075467 CA399662128	779	P>R		No	ClinGen gnomAD
CA290790631 rs199864937	780	D>E		No	ClinGen Ensembl
rs775239746 CA399662134	780	D>N		No	ClinGen ExAC gnomAD
rs775239746 CA8584352	780	D>Y		No	ClinGen ExAC gnomAD
CA8584353 rs762544361	782	S>P		No	ClinGen ExAC TOPMed gnomAD
CA8584371 rs768272842	784	E>G		No	ClinGen ExAC TOPMed gnomAD
CA8584372 rs773750194	785	E>K		No	ClinGen ExAC TOPMed gnomAD
rs761324476 CA8584373	786	L>P		No	ClinGen ExAC gnomAD
rs1430243689 CA399662397	788	S>G		No	ClinGen gnomAD
rs56227191 CA8584375	790	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8584377 rs766132275	791	S>C		No	ClinGen ExAC TOPMed gnomAD
rs760512833 CA8584376	791	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1285575121 CA399662501	793	E>D		No	ClinGen gnomAD
rs56231972 CA8584378	794	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751595530 CA8584381	795	R>S		No	ClinGen ExAC TOPMed
CA8584380 rs185780530	795	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399662578 rs1597903730	796	S>R		No	ClinGen Ensembl
CA399662613 rs61755624	798	T>A		No	ClinGen TOPMed
CA290790734 rs61755624	798	T>S		No	ClinGen TOPMed
rs1263905099 CA399662685	801	S>F		No	ClinGen TOPMed
CA290790741 rs760081118	801	S>P		No	ClinGen gnomAD
CA290790743 rs35725557	802	T>N		No	ClinGen Ensembl
rs554465446 RCV000891802	806	S>missing		No	ClinVar dbSNP
rs147081637 CA290790745	808	G>A		No	ClinGen 1000Genomes TOPMed
rs1597903781 CA399662840	809	T>I		No	ClinGen Ensembl
CA8584385 rs750940648	811	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1473225286 CA399662899	812	S>C		No	ClinGen gnomAD
rs1226680816 CA399662928	814	G>R		No	ClinGen TOPMed
CA399662945 rs1162911894	815	N>D		No	ClinGen gnomAD
CA399662995 rs756583755	816	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8584386 rs756583755	816	P>R		No	ClinGen ExAC TOPMed gnomAD
CA399663043 rs1467251720	818	S>F		No	ClinGen gnomAD
CA399663083 rs1332621402	821	T>I		No	ClinGen gnomAD
rs1332621402 CA399663089	821	T>N		No	ClinGen gnomAD
rs1597903835 CA399663072	821	T>P		No	ClinGen Ensembl
rs1442711337 CA399663109	823	I>L		No	ClinGen TOPMed
CA8584387 rs780271415	823	I>T		No	ClinGen ExAC gnomAD
CA399663141 rs1287623966	824	S>F		No	ClinGen TOPMed gnomAD
CA399663151 rs1597903855	825	P>S		No	ClinGen Ensembl
CA399663163 rs190384194	826	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399663185 COSM1581948 COSM1581949 rs1243542699	827	P>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA399663200 rs1412665767	828	I>L		No	ClinGen TOPMed
rs1231039631 CA399663266	831	I>L		No	ClinGen TOPMed gnomAD
rs1291641249 CA399663278	831	I>S		No	ClinGen gnomAD
rs1441952200 CA399663286	832	T>P		No	ClinGen TOPMed
CA290790762 rs890547041	833	S>P		No	ClinGen TOPMed
rs1257321025 CA399663355	834	P>L		No	ClinGen gnomAD
rs1567654337 CA399663369	835	P>R		No	ClinGen Ensembl
rs1202140073 CA399663362	835	P>T		No	ClinGen gnomAD
CA399663410 rs1597903926	837	H>P		No	ClinGen Ensembl
CA8584391 rs771549202	837	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA8584392 rs773176038	838	P>H		No	ClinGen ExAC gnomAD
rs760604399 CA8584393	839	S>I		No	ClinGen ExAC gnomAD
rs1321164861 CA399663449	839	S>R		No	ClinGen TOPMed
rs1486779878 CA399663489	840	P>S		No	ClinGen gnomAD
rs1478833452 CA399663505	841	S>P		No	ClinGen TOPMed gnomAD
CA8584395 rs776302885	843	F>L		No	ClinGen ExAC gnomAD
rs759307738 CA8584397	844	S>F		No	ClinGen ExAC gnomAD
CA399663568 rs1597903973	844	S>P		No	ClinGen Ensembl
rs552498857 CA399663609	846	I>F		No	ClinGen TOPMed gnomAD
rs552498857 CA399663604	846	I>L		No	ClinGen TOPMed gnomAD
rs1342043035 CA399663620	846	I>T		No	ClinGen gnomAD
rs552498857 CA290790787	846	I>V		No	ClinGen TOPMed gnomAD
rs751752414 CA8584399	848	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1295182073 CA399663683	849	Q>P		No	ClinGen TOPMed
CA290790797 rs967351340	854	P>L		No	ClinGen TOPMed gnomAD
CA8584402 rs563294566	854	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA399663850 rs1198573100	857	H>P		No	ClinGen gnomAD
CA399663853 rs1198573100	857	H>R		No	ClinGen gnomAD
CA8584403 rs61755626	857	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1302858 COSM1302859 rs1567654419 CA399663950	862	P>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1039629360 CA290790828	863	L>F		No	ClinGen TOPMed
rs755325444 CA8584407	867	S>A		No	ClinGen ExAC gnomAD
rs778479462 CA8584408	867	S>C		No	ClinGen ExAC gnomAD
CA8584409 rs747769189	870	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8584411 rs777254031	871	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1172209346 CA399664180	873	P>L		No	ClinGen TOPMed gnomAD
rs1362881814 CA399664183	874	V>I		No	ClinGen gnomAD
rs1400179272 CA399664218	875	P>L		No	ClinGen gnomAD
CA399664237 rs1359167261	876	L>H		No	ClinGen gnomAD
CA399664320 rs1301874072	880	P>S		No	ClinGen gnomAD
rs1400341412 CA399664444	885	P>H		No	ClinGen TOPMed gnomAD
rs564205499 CA8584415	886	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528315842 CA399664462	886	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8584416 rs528315842	886	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3958399 COSM3958400 CA290790929 rs867066119	887	T>I	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA399664501 rs774476169	888	S>F		No	ClinGen ExAC gnomAD
CA8584417 rs774476169	888	S>Y		No	ClinGen ExAC gnomAD
CA399664524 rs1484928826	889	P>L		No	ClinGen gnomAD
rs141615112 CA8584419	891	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1358289517 CA399664575	893	S>P		No	ClinGen TOPMed
rs766817565 CA8584422	894	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8584423 rs766817565	894	P>T		No	ClinGen ExAC TOPMed gnomAD
CA399664607 rs1157670306	896	C>F		No	ClinGen gnomAD
CA399664601 rs1174594877	896	C>G		No	ClinGen TOPMed
CA399664618 rs1343130276	897	S>C		No	ClinGen gnomAD
CA399664709 rs1420827959	904	P>L		No	ClinGen TOPMed
rs765633775 CA8584425	905	F>L		No	ClinGen ExAC gnomAD
rs1032321951 CA290790966	906	F>V		No	ClinGen Ensembl
rs1377361001 CA399664746	907	P>L		No	ClinGen gnomAD
CA8584426 rs752406838	907	P>S		No	ClinGen ExAC gnomAD
rs758058076 CA8584427	908	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8584429 rs746549700	909	C>*		No	ClinGen ExAC gnomAD
rs1224092045 CA399664784	910	P>H		No	ClinGen gnomAD
rs1224092045 CA399664788	910	P>L		No	ClinGen gnomAD
CA399664808 rs1266058728	912	T>I		No	ClinGen gnomAD
rs368043109 CA8584430	913	S>F		No	ClinGen ESP ExAC gnomAD
rs1020142146 CA290790981	914	S>Y		No	ClinGen Ensembl
rs769542634 CA8584433	916	P>L		No	ClinGen ExAC gnomAD
rs550427893 CA8584431	916	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8584432 rs550427893	916	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA399664867 rs1597904212	917	S>P		No	ClinGen Ensembl
CA8584435 rs200057224	918	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200057224 CA399664878	918	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8584436 rs772455400	920	A>V		No	ClinGen ExAC TOPMed gnomAD
rs201592842 CA8584437	922	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA290791011 rs990025673	922	P>S		No	ClinGen TOPMed
CA399664948 rs913156614	924	L>H		No	ClinGen TOPMed gnomAD
CA290791025 rs913156614	924	L>R		No	ClinGen TOPMed gnomAD
rs1348728047 CA399664961	925	S>F		No	ClinGen TOPMed gnomAD
rs1401010116 CA399664978	927	A>P		No	ClinGen gnomAD
CA8584440 rs777074821	927	A>V		No	ClinGen ExAC gnomAD
rs1296199829 CA399664989	928	S>G		No	ClinGen gnomAD
rs978076918 CA290791028	928	S>I		No	ClinGen TOPMed
CA399665008 rs1285161577	929	A>D		No	ClinGen TOPMed gnomAD
rs760077780 CA8584441	930	F>L		No	ClinGen ExAC TOPMed gnomAD
CA290791038 rs530523180	933	A>V		No	ClinGen Ensembl
rs1374182398 CA399665063	934	V>M		No	ClinGen TOPMed
rs868616711 CA290791051	936	T>I		No	ClinGen TOPMed gnomAD
CA290791055 rs911957701	943	S>Y		No	ClinGen TOPMed gnomAD
CA8584446 rs751187234	945	S>L		No	ClinGen ExAC TOPMed gnomAD
CA290791066 rs200187290	946	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1473928875 CA399665205	946	P>S		No	ClinGen gnomAD
CA8584449 rs368185978	947	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372807256 CA399665225	948	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780101294 CA399665240	949	L>P		No	ClinGen ExAC TOPMed gnomAD
CA8584451 rs780101294	949	L>R		No	ClinGen ExAC TOPMed gnomAD
rs768549623 CA8584454	953	P>S		No	ClinGen ExAC gnomAD
rs747254653 CA8584456	957	P>A		No	ClinGen ExAC gnomAD
rs1315550769 CA399665389	957	P>L		No	ClinGen TOPMed
CA399665392 rs1280125079	958	S>R		No	ClinGen gnomAD
rs975061385 CA290791089	959	P>H		No	ClinGen Ensembl
rs1318718827 CA399665419	959	P>T		No	ClinGen gnomAD
rs759465498 CA8584459	964	P>L		No	ClinGen ExAC gnomAD
CA8584460 rs200640984	965	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1189277397 CA399665525	965	L>P		No	ClinGen gnomAD
CA399665520 rs200640984	965	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA399665551 rs1395837271	967	P>A		No	ClinGen TOPMed
CA399665557 rs775923469	967	P>H		No	ClinGen ExAC gnomAD
rs775923469 CA8584461	967	P>L		No	ClinGen ExAC gnomAD
CA399665571 rs1474798759	968	P>S		No	ClinGen gnomAD
CA8584464 rs202060087	969	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372187677 CA290791124	970	A>P		No	ClinGen ESP TOPMed
CA399665649 rs1414802025	972	G>A		No	ClinGen TOPMed gnomAD
rs761512538 CA8584465	973	G>A		No	ClinGen ExAC gnomAD
CA399665651 rs1163966345	973	G>S		No	ClinGen TOPMed
rs767017692 CA8584466	975	E>*		No	ClinGen ExAC gnomAD
CA290791131 rs1049301926	975	E>G		No	ClinGen TOPMed
CA8584467 rs774908124	976	S>N		No	ClinGen ExAC TOPMed gnomAD
rs755531590 CA8584468	977	P>S		No	ClinGen ExAC gnomAD
rs1341135179 CA399667170	979	P>H		No	ClinGen gnomAD
CA8584469 rs780191203	980	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1238504638 CA399667203	981	T>R		No	ClinGen TOPMed
rs1268915493 CA399667207	982	A>T		No	ClinGen gnomAD
CA8584470 rs753796170 COSM3937403 COSM3937404	983	E>V	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM349332 CA8584471 COSM349333 rs754892440	985	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399667277 rs1428420574	987	E>A		No	ClinGen Ensembl
rs1173546903 CA399667284	987	E>D		No	ClinGen gnomAD
CA399667369 rs1162908498	990	P>L		No	ClinGen TOPMed
CA8584482 rs762015831	990	P>S		No	ClinGen ExAC gnomAD
CA399667394 rs1369236177	992	P>L		No	ClinGen gnomAD
CA399667405 rs1242839466	993	A>V		No	ClinGen TOPMed gnomAD
rs750022775 CA8584484	994	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767223452 CA8584483	994	R>W		No	ClinGen ExAC TOPMed gnomAD
rs760272124 CA8584485	995	P>S		No	ClinGen ExAC gnomAD
CA399667438 rs879824546	996	L>H		No	ClinGen TOPMed gnomAD
CA290791253 rs879824546	996	L>P		No	ClinGen TOPMed gnomAD
CA399667458 rs1451685966	998	G>R		No	ClinGen gnomAD
CA399667542 rs765986627	1003	A>G		No	ClinGen ExAC TOPMed gnomAD
rs765986627 CA8584486	1003	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1458911593 CA399667586	1006	S>F		No	ClinGen gnomAD
rs754981787 CA8584488	1008	E>K		No	ClinGen ExAC gnomAD
CA8584512 rs763788288	1009	G>E		No	ClinGen ExAC gnomAD
CA8584511 rs758249718	1009	G>R		No	ClinGen ExAC gnomAD
CA290791358 rs61755628	1011	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749399538 CA8584516	1012	Q>*		No	ClinGen ExAC
rs749399538 CA399667730	1012	Q>K		No	ClinGen ExAC
rs376863636 CA8584517	1013	L>V		No	ClinGen ESP ExAC gnomAD
rs1219099206 CA399667769	1014	V>A		No	ClinGen gnomAD
CA8584518 rs779514440	1014	V>F		No	ClinGen ExAC gnomAD
CA8584520 rs370684411	1016	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM979656 COSM979654 CA8584521 rs529016542	1016	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA399667790 rs370684411	1016	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201925752 CA290791381	1019	V>L		No	ClinGen TOPMed gnomAD
rs201925752 CA399667839	1019	V>M		No	ClinGen TOPMed gnomAD
CA8584522 rs750674108	1020	T>P		No	ClinGen ExAC gnomAD
rs1255414065 CA399667874	1021	S>L		No	ClinGen gnomAD
CA399667889 rs1194512126	1022	S>F		No	ClinGen gnomAD
CA290791385 rs759464770	1023	K>T		No	ClinGen TOPMed gnomAD
rs776371854 CA8584524	1024	E>K		No	ClinGen ExAC gnomAD
CA399667932 rs56099549	1025	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1174637801 CA399667927	1025	P>T		No	ClinGen TOPMed gnomAD
COSM1288971 COSM1288972 rs1415938074 CA399667950	1026	A>D	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated TOPMed
rs377665825 CA8584529	1027	E>K		No	ClinGen ESP ExAC gnomAD
CA8584530 rs762786029	1028	P>L		No	ClinGen ExAC gnomAD
rs1310705360 CA399667976	1028	P>T		No	ClinGen gnomAD
CA399667990 rs1400030469	1029	L>R		No	ClinGen TOPMed
rs764034833 CA8584531	1032	Q>E		No	ClinGen ExAC gnomAD
CA8584532 rs370906094	1036	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425077861 CA399668035	1037	T>A		No	ClinGen TOPMed
CA399668037 rs1210355555	1037	T>N		No	ClinGen gnomAD
rs1489303792 CA399668044	1038	L>P		No	ClinGen gnomAD
CA399668041 rs1278538229	1038	L>V		No	ClinGen gnomAD
CA290791448 rs915460681	1040	G>D		No	ClinGen TOPMed
CA399668063 rs1474918500	1041	S>Y		No	ClinGen TOPMed
CA399668074 rs1408632245	1042	P>L		No	ClinGen gnomAD
CA290791453 rs945360989	1046	T>S		No	ClinGen TOPMed gnomAD
CA399668158 rs1212745474	1047	P>L		No	ClinGen TOPMed
CA399668146 rs1427209947	1047	P>S		No	ClinGen gnomAD
rs757005482 CA8584533	1048	Q>R		No	ClinGen ExAC gnomAD
CA399668212 rs1441007294	1050	T>I		No	ClinGen TOPMed
CA399668269 rs1396000569	1053	S>N		No	ClinGen gnomAD
rs766638158 CA8584534	1055	D>G		No	ClinGen ExAC TOPMed gnomAD
CA399668409 rs1171354205	1059	S>R		No	ClinGen gnomAD
CA290791463 rs756295960	1059	S>T		No	ClinGen Ensembl
CA399668410 rs1320095284	1060	A>T		No	ClinGen TOPMed
CA8584535 rs142406282	1061	G>A		No	ClinGen ExAC TOPMed gnomAD
CA8584536 rs755153601	1063	G>R		No	ClinGen ExAC TOPMed gnomAD
rs755153601 CA399668470	1063	G>R		No	ClinGen ExAC TOPMed gnomAD
CA399668504 rs1382166430	1065	E>D		No	ClinGen gnomAD
rs1304068752 CA399668524	1067	R>T		No	ClinGen gnomAD
CA399668532 rs1369972726	1068	E>*		No	ClinGen gnomAD
CA8584537 rs778845513	1068	E>G		No	ClinGen ExAC gnomAD
CA8584540 rs778306015	1074	D>N		No	ClinGen ExAC gnomAD
rs201421543 CA8584541	1075	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200263366 CA8584543	1075	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA290791484 rs200263366	1075	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8584544 rs143956890	1076	A>V		No	ClinGen ESP ExAC gnomAD
CA399668713 rs1254246013	1077	A>V		No	ClinGen gnomAD
CA399668763 rs769400909	1079	G>D		No	ClinGen ExAC TOPMed gnomAD
rs769400909 CA8584545	1079	G>V		No	ClinGen ExAC TOPMed gnomAD
rs774875362 CA8584546	1081	G>A		No	ClinGen ExAC gnomAD
CA399668819 rs1408842631	1083	G>R		No	ClinGen TOPMed
rs1419248917 CA399668832	1083	G>V		No	ClinGen gnomAD
CA8584548 rs148648427	1084	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399668866 rs1480331046	1085	E>G		No	ClinGen Ensembl
CA290791509 rs1026867042	1085	E>Q		No	ClinGen Ensembl
rs774223582 CA8584550	1086	E>Q		No	ClinGen ExAC gnomAD
CA399668959 rs1275414723	1089	D>H		No	ClinGen TOPMed gnomAD
CA399669055 rs1393704293	1093	E>K		No	ClinGen TOPMed gnomAD
CA399669084 rs371930924	1094	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA399669090 rs371930924	1094	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8584553 rs371930924	1094	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399669077 rs1438398279	1094	P>T		No	ClinGen gnomAD
CA8584554 rs759694534	1095	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA290791529 rs878858652	1095	Q>H		No	ClinGen Ensembl
rs765436870 CA8584555	1096	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8584556 rs765436870	1096	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1376706638 CA399669139	1097	G>W		No	ClinGen TOPMed
rs1315191413 RCV000722831	1098	G>missing		No	ClinVar dbSNP
rs1274324777 CA399669203	1100	P>S		No	ClinGen gnomAD
CA399669229 rs1212387914	1101	Q>*		No	ClinGen gnomAD
CA399669237 rs1597905016	1101	Q>H		No	ClinGen Ensembl
rs1176259202 CA399669268	1103	L>P		No	ClinGen TOPMed gnomAD
CA8584559 rs778470181	1104	S>I		No	ClinGen ExAC gnomAD
CA399669302 rs1425018412	1105	H>R		No	ClinGen gnomAD
CA399669311 rs1165060197	1106	P>A		No	ClinGen gnomAD
CA8584560 rs752078318	1107	S>I		No	ClinGen ExAC TOPMed gnomAD
rs752078318 CA399669332	1107	S>N		No	ClinGen ExAC TOPMed gnomAD
rs757758511 CA8584561	1108	P>T		No	ClinGen ExAC gnomAD
CA399669521 rs1597905042	1113	Y>S		No	ClinGen Ensembl
CA399669580 rs1379093414	1114	S>F		No	ClinGen TOPMed
CA399669602 rs1172737624	1115	Y>C		No	ClinGen gnomAD
rs1329190105 CA399669654	1116	S>N		No	ClinGen TOPMed
CA399669821 rs1440864001	1122	S>C		No	ClinGen TOPMed
CA8584565 rs367565094	1123	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA399669854 rs367565094	1123	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8584566 rs371666484	1128	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA290791570 rs1015232016	1129	G>A		No	ClinGen Ensembl
CA399670015 rs1416892174	1129	G>R		No	ClinGen gnomAD
CA8584568 rs374887223	1132	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1441894143 CA399670136	1133	E>D		No	ClinGen TOPMed
CA399670147 rs1231922943	1134	F>L		No	ClinGen TOPMed gnomAD
CA8584570 rs761724990	1135	W>*		No	ClinGen ExAC gnomAD
CA399670289 rs970914081	1141	L>F		No	ClinGen TOPMed gnomAD
CA290791612 rs970914081	1141	L>V		No	ClinGen TOPMed gnomAD
rs369907969 CA8584575 COSM3691587 COSM3691586	1142	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM3712324 COSM3712323 rs371972756 CA8584574	1142	R>W	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1473978000 CA399670357	1144	K>R		No	ClinGen gnomAD
CA8584599 rs761944783	1145	H>N		No	ClinGen ExAC gnomAD
rs750917827 CA8584601	1154	T>I		No	ClinGen ExAC gnomAD
rs750917827 CA8584602	1154	T>K		No	ClinGen ExAC gnomAD
CA399670912 rs1302203674	1156	Q>P		No	ClinGen TOPMed gnomAD
rs778501298 CA8584607	1158	K>N		No	ClinGen ExAC TOPMed gnomAD
CA8584609 rs201060010	1160	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747683477 CA8584608	1160	I>T		No	ClinGen ExAC TOPMed gnomAD
CA399671106 rs1489149028	1160	I>V		No	ClinGen TOPMed
rs557728263 CA290791758	1162	D>H		No	ClinGen 1000Genomes gnomAD
rs777615590 CA8584610	1162	D>V		No	ClinGen ExAC gnomAD
rs1254872330 CA399671245	1163	L>*		No	ClinGen gnomAD
rs141257205 CA8584611	1164	Y>H		No	ClinGen ESP ExAC gnomAD
CA399671311 COSM706262 COSM706261 rs1279815902	1165	S>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs776495842 CA8584613	1166	R>Q		No	ClinGen ExAC gnomAD
CA8584612 rs770685193	1166	R>W		No	ClinGen ExAC gnomAD
CA16044429 rs193922737	1169	K>E		No	ClinGen Ensembl
rs117902541 CA8584618	1173	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs117902541 CA399671499	1173	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399671518 rs1442329290	1174	G>A		No	ClinGen gnomAD
rs766730663 CA8584621	1175	I>T		No	ClinGen ExAC gnomAD
CA399671573 rs1279836679	1177	A>D		No	ClinGen gnomAD
CA399671594 rs1278458580	1178	P>L		No	ClinGen TOPMed
rs1349310081 CA399671606	1179	A>S		No	ClinGen gnomAD
rs387907560 RCV000054789 CA216490	1179	A>V		No	ClinGen ClinVar Ensembl dbSNP
rs754262031 CA8584623	1181	M>R		No	ClinGen ExAC TOPMed gnomAD
CA290791792 rs754262031	1181	M>T		No	ClinGen ExAC TOPMed gnomAD
rs764922279 CA8584626	1183	S>F		No	ClinGen ExAC gnomAD
rs932489423 CA290791795	1184	S>G		No	ClinGen TOPMed
CA399671733 rs1288716436	1184	S>N		No	ClinGen TOPMed
CA8584627 rs752318904	1184	S>R		No	ClinGen ExAC
CA8584628 rs61755631	1185	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8584629 rs750973929	1187	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757221134 CA8584630	1187	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8584631 rs780950207	1188	R>C		No	ClinGen ExAC TOPMed gnomAD
rs745678782 CA8584632	1188	R>H		No	ClinGen ExAC gnomAD
CA399671829 rs1164844822	1189	L>P		No	ClinGen gnomAD
CA399671882 rs1476996054	1191	K>N		No	ClinGen TOPMed
CA399671918 rs1261265648	1193	S>N		No	ClinGen TOPMed
CA290791811 rs1024891139	1194	F>S		No	ClinGen Ensembl
CA8584635 rs748369536	1196	T>P		No	ClinGen ExAC gnomAD
CA290791815 rs980811272	1197	S>P		No	ClinGen Ensembl
rs745774737 CA290791819	1198	R>C		No	ClinGen gnomAD
CA8584636 rs61755632	1198	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8584638 rs200519604	1199	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776984573 CA8584640	1199	R>H		No	ClinGen ExAC gnomAD
rs539950797 CA8584642	1201	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA8584643 rs752400678	1203	Q>L		No	ClinGen ExAC gnomAD
CA399672160 rs56116165	1204	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs573545214 CA8584645	1204	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8584647 rs756671891	1205	S>C		No	ClinGen ExAC gnomAD
CA8584646 rs751108253	1205	S>P		No	ClinGen ExAC gnomAD
rs536581105 CA290791860	1206	E>G		No	ClinGen TOPMed gnomAD
rs1367283849 CA399672240	1208	P>L		No	ClinGen gnomAD
CA399672261 rs1476574493	1209	G>D		No	ClinGen gnomAD
rs763828437 CA8584663	1211	G>A		No	ClinGen ExAC gnomAD
rs781237330 CA8584648	1211	G>R		No	ClinGen ExAC gnomAD
CA399672288 rs781237330	1211	G>S		No	ClinGen ExAC gnomAD
rs1238751452 CA399672411	1212	I>N		No	ClinGen TOPMed
CA8584664 rs773850501	1212	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1433750186 CA399672458	1214	R>*		No	ClinGen TOPMed gnomAD
rs547118032 CA8584665	1214	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1359627856 CA399672470	1215	R>G		No	ClinGen Ensembl
CA8584666 rs568558626	1215	R>M		No	ClinGen 1000Genomes ExAC gnomAD
rs749896422 CA8584670	1219	S>T		No	ClinGen ExAC TOPMed gnomAD
rs756125712 CA8584671	1220	G>A		No	ClinGen ExAC gnomAD
CA8584672 rs201075094	1221	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA399672587 rs1245738462	1221	S>N		No	ClinGen TOPMed
CA8584673 rs753709717	1222	S>I		No	ClinGen ExAC gnomAD
rs1354802330 CA399672598	1222	S>R		No	ClinGen TOPMed
rs778099657 CA8584675	1224	G>C		No	ClinGen ExAC TOPMed gnomAD
rs778099657 CA399672631	1224	G>S		No	ClinGen ExAC TOPMed gnomAD
CA399672680 rs1597905798	1226	Q>H		No	ClinGen Ensembl
CA8584677 rs747196064	1226	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA399672670 rs1261701459	1226	Q>R		No	ClinGen gnomAD
CA8584678 rs368730175	1227	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8584680 rs745877592	1229	R>Q		No	ClinGen ExAC gnomAD
rs551175133 CA8584679	1229	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770314663 CA8584681	1230	A>V		No	ClinGen ExAC TOPMed gnomAD
CA399672749 rs1597905828	1231	S>N		No	ClinGen Ensembl
CA8584682 rs569324622 COSM1383457 COSM1383458 COSM73297	1231	S>R	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA290792013 rs1033315225	1234	V>M		No	ClinGen TOPMed
rs1157903228 CA399672806	1235	T>A		No	ClinGen gnomAD
CA399672821 rs1386404664	1236	F>V		No	ClinGen gnomAD
CA8584684 rs540144740	1237	A>S		No	ClinGen 1000Genomes TOPMed
CA399672838 rs540144740	1237	A>T		No	ClinGen 1000Genomes TOPMed
CA8584687 rs371087263	1238	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8584698 rs757421044	1244	M>W		No	ClinGen ExAC gnomAD

1 associated diseases with Q96J92

[MIM: 614491]: Pseudohypoaldosteronism 2B (PHA2B)

An autosomal dominant disorder characterized by hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. {ECO:0000269|PubMed:11498583, ECO:0000269|PubMed:23387299, ECO:0000269|PubMed:23453970, ECO:0000269|PubMed:23576762}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant disorder characterized by hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. {ECO:0000269|PubMed:11498583, ECO:0000269|PubMed:23387299, ECO:0000269|PubMed:23453970, ECO:0000269|PubMed:23576762}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q96J92

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	174 - 432	IPR000719
active_site	Serine/threonine-protein kinase, active site	298 - 310	IPR008271
domain	Serine/threonine-protein kinase OSR1/WNK, CCT domain	453 - 515	IPR024678

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cell junction, tight junction	Present exclusively in intercellular junctions in the distal convoluted tubule and in both the cytoplasm and intercellular junctions in the cortical collecting duct (By similarity) WNK4 is part of the tight junction complex (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
bicellular tight junction	An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

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.

13 GO annotations of biological process

Name	Definition
cellular cation homeostasis	Any process involved in the maintenance of an internal steady state of cations at the level of a cell.
chloride transport	The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
distal tubule morphogenesis	The process in which the anatomical structures of a distal tubule are generated and organized. The distal tubule is a nephron tubule that begins at the macula densa and extends to the connecting tubule.
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.
ion transport	The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of pancreatic juice secretion	Any process that decreases the rate, frequency or extent of pancreatic juice secretion, the regulated release of pancreatic juice by the exocrine pancreas into the upper part of the intestine.
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 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 localization	Any process in which a protein is transported to, or maintained in, a specific location.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
renal sodium ion absorption	A renal system process in which sodium ions are taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures.

18 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y3S1	WNK2	Serine/threonine-protein kinase WNK2	Homo sapiens (Human)	SS
Q9H4A3	WNK1	Serine/threonine-protein kinase WNK1	Homo sapiens (Human)	SS
Q9BYP7	WNK3	Serine/threonine-protein kinase WNK3	Homo sapiens (Human)	SS
P00540	MOS	Proto-oncogene serine/threonine-protein kinase mos	Homo sapiens (Human)	PR
Q5TCX8	MAP3K21	Mitogen-activated protein kinase kinase kinase 21	Homo sapiens (Human)	PR
P83741	Wnk1	Serine/threonine-protein kinase WNK1	Mus musculus (Mouse)	SS
Q3UH66	Wnk2	Serine/threonine-protein kinase WNK2	Mus musculus (Mouse)	SS
Q80XP9	Wnk3	Serine/threonine-protein kinase WNK3	Mus musculus (Mouse)	SS
Q80UE6	Wnk4	Serine/threonine-protein kinase WNK4	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
MLASPATETT	VLMSQTEADL	ALRPPPPLGT	AGQPRLGPPP	RRARRFSGKA	EPRPRSSRLS
70	80	90	100	110	120
RRSSVDLGLL	SSWSLPASPA	PDPPDPPDSA	GPGPARSPPP	SSKEPPEGTW	TEGAPVKAAE
130	140	150	160	170	180
DSARPELPDS	AVGPGSREPL	RVPEAVALER	RREQEEKEDM	ETQAVATSPD	GRYLKFDIEI
190	200	210	220	230	240
GRGSFKTVYR	GLDTDTTVEV	AWCELQTRKL	SRAERQRFSE	EVEMLKGLQH	PNIVRFYDSW
250	260	270	280	290	300
KSVLRGQVCI	VLVTELMTSG	TLKTYLRRFR	EMKPRVLQRW	SRQILRGLHF	LHSRVPPILH
310	320	330	340	350	360
RDLKCDNVFI	TGPTGSVKIG	DLGLATLKRA	SFAKSVIGTP	EFMAPEMYEE	KYDEAVDVYA
370	380	390	400	410	420
FGMCMLEMAT	SEYPYSECQN	AAQIYRKVTS	GRKPNSFHKV	KIPEVKEIIE	GCIRTDKNER
430	440	450	460	470	480
FTIQDLLAHA	FFREERGVHV	ELAEEDDGEK	PGLKLWLRME	DARRGGRPRD	NQAIEFLFQL
490	500	510	520	530	540
GRDAAEEVAQ	EMVALGLVCE	ADYQPVARAV	RERVAAIQRK	REKLRKAREL	EALPPEPGPP
550	560	570	580	590	600
PATVPMAPGP	PSVFPPEPEE	PEADQHQPFL	FRHASYSSTT	SDCETDGYLS	SSGFLDASDP
610	620	630	640	650	660
ALQPPGGVPS	SLAESHLCLP	SAFALSIPRS	GPGSDFSPGD	SYASDAASGL	SDVGEGMGQM
670	680	690	700	710	720
RRPPGRNLRR	RPRSRLRVTS	VSDQNDRVVE	CQLQTHNSKM	VTFRFDLDGD	SPEEIAAAMV
730	740	750	760	770	780
YNEFILPSER	DGFLRRIREI	IQRVETLLKR	DTGPMEAAED	TLSPQEEPAP	LPALPVPLPD
790	800	810	820	830	840
PSNEELQSST	SLEHRSWTAF	STSSSSPGTP	LSPGNPFSPG	TPISPGPIFP	ITSPPCHPSP
850	860	870	880	890	900
SPFSPISSQV	SSNPSPHPTS	SPLPFSSSTP	EFPVPLSQCP	WSSLPTTSPP	TFSPTCSQVT
910	920	930	940	950	960
LSSPFFPPCP	STSSFPSTTA	APLLSLASAF	SLAVMTVAQS	LLSPSPGLLS	QSPPAPPSPL
970	980	990	1000	1010	1020
PSLPLPPPVA	PGGQESPSPH	TAEVESEASP	PPARPLPGEA	RLAPISEEGK	PQLVGRFQVT
1030	1040	1050	1060	1070	1080
SSKEPAEPLP	LQPTSPTLSG	SPKPSTPQLT	SESSDTEDSA	GGGPETREAL	AESDRAAEGL
1090	1100	1110	1120	1130	1140
GAGVEEEGDD	GKEPQVGGSP	QPLSHPSPVW	MNYSYSSLCL	SSEESESSGE	DEEFWAELQS
1150	1160	1170	1180	1190	1200
LRQKHLSEVE	TLQTLQKKEI	EDLYSRLGKQ	PPPGIVAPAA	MLSSRQRRLS	KGSFPTSRRN
1210	1220	1230	1240
SLQRSEPPGP	GIMRRNSLSG	SSTGSQEQRA	SKGVTFAGDV	GRM