AiPD: Autoinhibited Protein Database

A2PYH4

Gene name	HFM1 (SEC3D1)
Protein name	Probable ATP-dependent DNA helicase HFM1
Names	SEC63 domain-containing protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:164045
EC number	3.6.4.12: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1090-1159 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1090-1159 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for A2PYH4

Entry ID	Method	Resolution	Chain	Position	Source
AF-A2PYH4-F1	Predicted				AlphaFoldDB

1112 variants for A2PYH4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs730880018 RCV000114368 CA151142	562	R>S	Premature ovarian failure 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs751622198 RCV001290508	635	Y>*	Premature ovarian failure 9 [ClinVar]	Yes	ClinVar dbSNP
rs587777269 RCV000114370 CA151145 VAR_071262	736	G>S	Premature ovarian failure 9 POF9 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_071263 RCV000114369 rs587777268 CA151143	884	I>S	Premature ovarian failure 9 POF9 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs587777270 RCV000114371	1310	P>missing	Premature ovarian failure 9 [ClinVar]	Yes	ClinVar dbSNP
rs1557742504 RCV000680219	1354	P>missing	Premature ovarian failure 9 [ClinVar]	Yes	ClinVar dbSNP
rs72952916 CA946603 RCV000897701	2	L>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA946604 rs753618370	2	L>V		No	ClinGen ExAC gnomAD
CA946602 rs376463557	4	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs902217652 CA26643265	5	N>D		No	ClinGen TOPMed
rs750039664 CA946600	8	L>R		No	ClinGen ExAC gnomAD
rs570086889 CA946599	19	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1382373708 CA341067251	20	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA946598 rs761296537	20	D>H		No	ClinGen ExAC gnomAD
CA946597 rs773897910	21	E>G		No	ClinGen ExAC TOPMed gnomAD
CA341067236 rs1458269903	21	E>K		No	ClinGen TOPMed
CA946595 rs763484118	23	E>K		No	ClinGen ExAC TOPMed gnomAD
CA341066847 rs1263457034	25	H>R		No	ClinGen gnomAD
CA341066849 rs1478481729	25	H>Y		No	ClinGen gnomAD
CA341066839 rs1489711805	26	P>L		No	ClinGen TOPMed gnomAD
rs780008884 CA946584	26	P>S		No	ClinGen ExAC TOPMed gnomAD
CA341066834 rs1267044825	27	D>G		No	ClinGen gnomAD
CA26640379 rs908265078	28	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	29	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341066814 rs1306879921	30	K>E		No	ClinGen gnomAD
rs755906039 CA946583	31	S>L		No	ClinGen ExAC gnomAD
CA946582 rs370744197	32	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA946580 rs761502634	33	D>A		No	ClinGen ExAC gnomAD
CA341066796 rs767335606	33	D>N		No	ClinGen ExAC TOPMed gnomAD
CA946581 rs767335606	33	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA26640358 rs141417240	34	W>*		No	ClinGen ESP TOPMed gnomAD
CA341066785 rs1309068461	34	W>L		No	ClinGen TOPMed
CA946579 rs751069678	36	L>F		No	ClinGen ExAC TOPMed gnomAD
CA341066773 rs751069678	36	L>I		No	ClinGen ExAC TOPMed gnomAD
CA946578 rs763617079	37	P>L		No	ClinGen ExAC gnomAD
rs1320618745 CA341066764	38	P>A		No	ClinGen TOPMed
rs1320618745 CA341066762	38	P>S		No	ClinGen TOPMed
CA341066751 rs199964473	40	P>A		No	ClinGen ExAC gnomAD
CA946576 rs199964473	40	P>S		No	ClinGen ExAC gnomAD
CA341066742 rs1423785839	41	L>F		No	ClinGen gnomAD
rs1031532459 CA26640335	42	I>V		No	ClinGen Ensembl
CA946575 rs770144973	46	P>S		No	ClinGen ExAC gnomAD
rs759954839 CA946574	49	Q>R		No	ClinGen ExAC gnomAD
rs747217886 CA946571	52	E>G		No	ClinGen ExAC gnomAD
CA946572 rs373281770	52	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1200526793 CA341066666	53	E>K		No	ClinGen gnomAD
CA946570 rs773189326	54	E>G		No	ClinGen ExAC gnomAD
rs1259395164 CA341066648	55	L>S		No	ClinGen TOPMed
CA341066640 rs1222953517	56	E>G		No	ClinGen TOPMed gnomAD
CA946568 rs749242897	61	L>*		No	ClinGen ExAC gnomAD
CA341066600 rs1373139198	62	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1260654562 CA341066577	63	Q>R		No	ClinGen TOPMed
CA26638865 rs772181134	64	E>*		No	ClinGen ExAC TOPMed gnomAD
CA946552 rs772181134	64	E>K		No	ClinGen ExAC TOPMed gnomAD
CA341066557 rs1444049830	66	R>K		No	ClinGen gnomAD
CA341066550 rs1200806185	67	P>S		No	ClinGen TOPMed
TCGA novel	68	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26638844 CA26638857 CA341066532 rs76064907	69	M>I		No	ClinGen gnomAD
CA946551 rs572935716	73	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341066492 rs1219264049	75	K>N		No	ClinGen gnomAD
rs1571231474 CA341066494	75	K>R		No	ClinGen Ensembl
CA946550 rs774550781	76	I>V		No	ClinGen ExAC
CA341066480 rs1354784152	77	T>S		No	ClinGen gnomAD
rs200426118 CA946548	79	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	81	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA946546 rs757016511	81	T>R		No	ClinGen ExAC gnomAD
rs942004452 CA26638780	82	N>T		No	ClinGen TOPMed
CA341066441 rs1312863543	83	Y>H		No	ClinGen gnomAD
CA341066424 rs1289495738	85	S>*		No	ClinGen TOPMed
rs1162983887 CA341066427	85	S>T		No	ClinGen gnomAD
rs1358261485 CA341066409	88	Q>*		No	ClinGen gnomAD
CA26638779 rs971286400	88	Q>R		No	ClinGen gnomAD
CA946545 rs148999016	89	K>N		No	ClinGen ESP ExAC gnomAD
TCGA novel	89	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA946544 rs201897123	91	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA341066346 rs1380735173	93	A>G		No	ClinGen TOPMed
CA341066325 rs1161415166	95	P>H		No	ClinGen TOPMed gnomAD
rs757969232 CA946543	96	S>C		No	ClinGen ExAC gnomAD
CA26638750 rs369145569	97	D>G		No	ClinGen Ensembl
rs752247488 CA946542	99	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs755505134 CA26638736	102	D>G		No	ClinGen ExAC TOPMed gnomAD
rs764688741 CA341066255	102	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755505134 CA946540	102	D>V		No	ClinGen ExAC TOPMed gnomAD
rs764688741 CA946541	102	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs754286331 CA946538	103	D>N		No	ClinGen ExAC gnomAD
rs539997150 CA946537	103	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1359099249 CA341066198	107	E>G		No	ClinGen gnomAD
CA341066184 rs1253430146	108	G>V		No	ClinGen TOPMed
CA946536 rs761169095	108	G>W		No	ClinGen ExAC gnomAD
rs369055444 CA946533	109	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs767828285 CA341066182	109	V>I		No	ClinGen ExAC TOPMed gnomAD
rs767828285 CA946534	109	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1016362604 CA26638684	110	G>D		No	ClinGen gnomAD
CA341066140 rs1321370124	113	D>N		No	ClinGen TOPMed gnomAD
CA946530 rs759556646	115	S>L		No	ClinGen ExAC gnomAD
rs11165778 VAR_039799 CA946531	115	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs34569892 CA946529	116	H>Y		No	ClinGen ExAC TOPMed gnomAD
VAR_039800 CA946528 rs282009	117	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs746876084 CA946527	118	A>T		No	ClinGen ExAC gnomAD
rs1195894033 CA341066083	118	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs375745788 CA946526	119	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA341066051 rs771745554	122	T>A		No	ClinGen ExAC TOPMed gnomAD
CA341066048 rs1392420198	122	T>K		No	ClinGen TOPMed
rs771745554 CA946525	122	T>S		No	ClinGen ExAC TOPMed gnomAD
CA946524 rs772496665	123	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1231788467 CA341066040	123	Y>D		No	ClinGen gnomAD
CA341066014 rs1234775397	125	S>F		No	ClinGen TOPMed
CA946523 rs372556136	126	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA946521 rs753284346	128	Y>C		No	ClinGen ExAC gnomAD
rs756555959 CA946519	132	I>V		No	ClinGen ExAC TOPMed gnomAD
CA341065901 rs1331525965	135	E>*		No	ClinGen gnomAD
CA946518 rs750839829	135	E>A		No	ClinGen ExAC gnomAD
CA341065886 rs1480928374	136	I>T		No	ClinGen TOPMed
rs1571230611 CA341065891	136	I>V		No	ClinGen Ensembl
CA341065880 rs1444523525	137	A>T		No	ClinGen gnomAD
rs767731233 CA946517	138	P>H		No	ClinGen ExAC gnomAD
rs762147234 CA946516	139	E>Q		No	ClinGen ExAC gnomAD
rs1179092464 CA341065849	140	K>E		No	ClinGen TOPMed gnomAD
rs1249935146 CA341065834	141	S>N		No	ClinGen TOPMed
CA946515 rs751770130	143	P>L		No	ClinGen ExAC gnomAD
CA946514 rs764270793	144	D>V		No	ClinGen ExAC gnomAD
CA26638579 rs900992140	145	D>H		No	ClinGen Ensembl
rs775415478 CA946512	147	K>E		No	ClinGen ExAC gnomAD
CA341065710 rs1181511413	152	A>S		No	ClinGen gnomAD
rs770945159 CA946511	155	K>R		No	ClinGen ExAC TOPMed gnomAD
rs760493845 CA946510	157	E>A		No	ClinGen ExAC gnomAD
rs760493845 CA341065651	157	E>G		No	ClinGen ExAC gnomAD
CA341065634 rs1040920656	158	S>I		No	ClinGen gnomAD
CA26638529 rs1040920656	158	S>T		No	ClinGen gnomAD
rs202217676 CA946506	163	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771800488 CA946507	163	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1221376362 CA341065556	165	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1359970876 CA341064938	169	I>M		No	ClinGen gnomAD
rs1212210127 CA341064946	169	I>V		No	ClinGen TOPMed
rs761655076 CA946485	172	N>S		No	ClinGen ExAC TOPMed gnomAD
rs897634028 CA341064899	173	I>L		No	ClinGen TOPMed gnomAD
rs897634028 CA26632327	173	I>V		No	ClinGen TOPMed gnomAD
CA26632310 rs1000525728	174	H>N		No	ClinGen Ensembl
rs369539453 CA946484	174	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA946483 rs577158315	175	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1412196444 CA341064867	176	S>N		No	ClinGen gnomAD
CA341064865 rs1183124986	176	S>R		No	ClinGen gnomAD
CA341064843 rs1472800706	180	N>D		No	ClinGen gnomAD
rs1191131774 CA341064839	180	N>K		No	ClinGen TOPMed gnomAD
CA946482 rs147184441	180	N>S		No	ClinGen ESP ExAC gnomAD
rs1377029528 CA341064837	181	D>N		No	ClinGen TOPMed
CA341064824 rs1489051593	182	N>S		No	ClinGen TOPMed gnomAD
rs1286538832 CA341064806	185	D>N		No	ClinGen gnomAD
CA341064796 rs1221400995	186	S>A		No	ClinGen gnomAD
CA946481 rs775085469	186	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	187	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769127365 CA946480	187	H>Y		No	ClinGen ExAC gnomAD
CA946479 rs746387661	189	G>D		No	ClinGen ExAC TOPMed gnomAD
CA946477 rs757823691	193	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778245594 CA946475	194	V>I		No	ClinGen ExAC gnomAD
rs1299213476 CA341064711	195	Q>*		No	ClinGen gnomAD
rs1299213476 CA341064708	195	Q>E		No	ClinGen gnomAD
rs758671967 CA946473	198	M>V		No	ClinGen ExAC TOPMed gnomAD
CA946472 TCGA novel rs752808375	199	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA26632246 rs902796010	201	G>E		No	ClinGen Ensembl
CA946471 rs148469632	202	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1167895264 CA341064587	205	N>S		No	ClinGen gnomAD
CA946470 rs138827341	206	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA341064573 rs138827341	206	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs753901043 CA946469	207	S>G		No	ClinGen ExAC
CA341064561 rs1156242942	207	S>N		No	ClinGen gnomAD
CA946468 rs543936384	208	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA946467 rs761708520	209	S>C		No	ClinGen ExAC gnomAD
CA341064535 rs774161459	209	S>I		No	ClinGen ExAC TOPMed gnomAD
rs774161459 CA946466	209	S>N		No	ClinGen ExAC TOPMed gnomAD
rs282026 CA341064505 CA341064504	211	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762679463 CA946464	212	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	213	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1317192021 CA341064469	214	Q>R		No	ClinGen gnomAD
rs1440221803 CA341064456	215	Y>C		No	ClinGen TOPMed
CA341064443 rs1257559538	216	S>Y		No	ClinGen gnomAD
rs1217262607 COSM1748659 CA341064426	218	N>D	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs557206287 CA341064415	219	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557206287 CA946463	219	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341064384 rs1386575432	221	T>I		No	ClinGen gnomAD
CA341064352 rs1186271596	224	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs745422945 CA946461	227	S>P		No	ClinGen ExAC TOPMed gnomAD
CA946460 rs776256514	228	A>P		No	ClinGen ExAC gnomAD
rs771602063 CA946459	228	A>V		No	ClinGen ExAC gnomAD
rs1466674836 CA341064297	230	E>V		No	ClinGen gnomAD
rs201459797 CA946456	232	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA946455 rs143418583	234	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1431091259 CA341064256	234	G>S		No	ClinGen gnomAD
rs143418583 CA946454 COSM1179142	234	G>V	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA946451 rs574702514	235	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs753960613 CA946452	235	M>V		No	ClinGen ExAC gnomAD
CA341064220 rs1265020616	238	A>V		No	ClinGen gnomAD
rs1196832546 CA341064216	239	P>S		No	ClinGen gnomAD
CA946450 rs757206132	241	F>L		No	ClinGen ExAC gnomAD
rs751440788 CA946449	241	F>L		No	ClinGen ExAC gnomAD
CA341064192 rs1434730840	243	V>F		No	ClinGen TOPMed
CA946447 rs762720520	244	A>P		No	ClinGen ExAC TOPMed gnomAD
CA341064184 rs1303895098	244	A>V		No	ClinGen gnomAD
CA341064179 rs1234362261	245	F>L		No	ClinGen TOPMed
rs972596862 CA26632014	246	Q>H		No	ClinGen gnomAD
TCGA novel	247	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147781194 CA26632001	247	P>L		No	ClinGen ESP TOPMed gnomAD
rs759229697 CA946444	247	P>S		No	ClinGen ExAC TOPMed gnomAD
CA341064140 rs1220949310	248	H>Q		No	ClinGen TOPMed gnomAD
rs1449636597 CA341064132	249	D>G		No	ClinGen gnomAD
rs1449636597 CA341064131	249	D>V		No	ClinGen gnomAD
CA946443 rs372526987	250	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372526987 CA26631994	250	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA946425 rs758329770	253	V>I		No	ClinGen ExAC gnomAD
rs752473029 CA946424	254	T>A		No	ClinGen ExAC gnomAD
CA341064027 rs1342647530	255	E>A		No	ClinGen gnomAD
rs142034233 CA946422	257	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA946423 rs142034233	257	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1339805383 CA341063993	258	L>F		No	ClinGen TOPMed
rs753477544 CA946421	258	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs890289872 CA26631482	259	G>D		No	ClinGen TOPMed gnomAD
CA946420 rs766128752	259	G>R		No	ClinGen ExAC TOPMed gnomAD
CA946418 rs149920604	261	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329020659 CA341063962	262	K>Q		No	ClinGen Ensembl
CA946417 rs772757563	263	A>P		No	ClinGen ExAC TOPMed gnomAD
rs772757563 CA341063948	263	A>T		No	ClinGen ExAC TOPMed gnomAD
CA341063907 rs1219183272	267	I>V		No	ClinGen gnomAD
rs755797245	268	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs146051438 COSM198331 CA946401	268	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs146051438 CA946402	268	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA946416 rs199692136	268	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA946399 COSM465082 rs749935008	269	A>T	kidney central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA946398 rs774773495	273	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1315690085 CA341063410	273	S>N		No	ClinGen TOPMed gnomAD
CA946397 rs762238830	274	I>V		No	ClinGen ExAC gnomAD
rs1227691657 CA341063380	277	E>G		No	ClinGen gnomAD
CA26628384 rs983887227	279	P>R		No	ClinGen TOPMed
CA341063368 rs1321304189	279	P>T		No	ClinGen gnomAD
rs764580625 CA946395	281	F>L		No	ClinGen ExAC gnomAD
rs1395066615 CA341063344	282	N>S		No	ClinGen TOPMed gnomAD
CA26628375 rs918431097	283	Y>C		No	ClinGen TOPMed gnomAD
rs918431097 CA26628376	283	Y>F		No	ClinGen TOPMed gnomAD
CA341063338 rs1326699118	283	Y>H		No	ClinGen gnomAD
CA341063330 rs1421776011	284	I>T		No	ClinGen gnomAD
rs1274088349 CA341063334	284	I>V		No	ClinGen TOPMed
rs775806818 CA946393	285	Q>E		No	ClinGen ExAC gnomAD
CA26628372 rs763131998	285	Q>H		No	ClinGen TOPMed gnomAD
rs1475860158 CA341063324	285	Q>R		No	ClinGen gnomAD
CA341063317 rs1197169918	286	S>C		No	ClinGen TOPMed gnomAD
rs916132525 CA26628371	288	A>T		No	ClinGen TOPMed gnomAD
CA341063302 rs770040067	289	F>I		No	ClinGen ExAC gnomAD
CA946392 rs770040067	289	F>V		No	ClinGen ExAC gnomAD
rs577843338 CA946391	290	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA341063259 rs1201974149	293	L>P		No	ClinGen TOPMed gnomAD
CA341063254 rs1335432953	294	Y>S		No	ClinGen gnomAD
CA946372 rs776981718	295	T>A		No	ClinGen ExAC TOPMed gnomAD
CA946371 rs771048982	296	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	296	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341063240 rs771048982	296	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	296	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341063237 rs111276867	297	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA946369 rs111276867	297	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA26627757 rs563207010	298	N>D		No	ClinGen Ensembl
rs1442966516 CA341063200	302	C>Y		No	ClinGen gnomAD
COSM1290247 CA946366 rs768745926	303	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs749189973 CA946365	303	A>V		No	ClinGen ExAC TOPMed gnomAD
rs150267573 CA946363	305	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA946362 rs745644977	306	G>S		No	ClinGen ExAC TOPMed gnomAD
CA341063166 rs1410751713	308	G>E		No	ClinGen gnomAD
CA341063162 rs1177280282	309	K>E		No	ClinGen gnomAD
rs1472143975	310	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	313	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341063113 rs1262263301	316	A>G		No	ClinGen gnomAD
rs751116446 CA946359	317	I>L		No	ClinGen ExAC TOPMed gnomAD
CA341063110 rs751116446	317	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1355803440 CA341063103	318	T>A		No	ClinGen gnomAD
CA341063101 rs1284782632	318	T>K		No	ClinGen TOPMed gnomAD
TCGA novel	321	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341063060 rs1355818245	324	V>I		No	ClinGen gnomAD
CA341063046 rs1298005320	326	L>S		No	ClinGen gnomAD
CA341063029 rs1423513235	328	W>*		No	ClinGen TOPMed
CA341063033 rs1256944211	328	W>G		No	ClinGen TOPMed
CA341063008 rs1347479234	331	I>N		No	ClinGen gnomAD
rs1398469030 CA341063010	331	I>V		No	ClinGen gnomAD
rs1165412285 CA341062531	336	M>I		No	ClinGen TOPMed
CA26626803 rs867217224	336	M>T		No	ClinGen Ensembl
rs1289784845 CA341062514	337	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	339	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777276467 CA946338	339	I>V		No	ClinGen ExAC TOPMed
rs1436457116 CA341062480	340	K>N		No	ClinGen gnomAD
rs752193921 CA946336	344	S>G		No	ClinGen ExAC TOPMed gnomAD
rs755412600 CA946334	345	Q>P		No	ClinGen ExAC gnomAD
rs755412600 CA946335	345	Q>R		No	ClinGen ExAC gnomAD
rs754261870 CA946333	346	R>C		No	ClinGen ExAC TOPMed gnomAD
CA946332 rs766605643	346	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1420028971 CA341062390	348	D>E		No	ClinGen gnomAD
rs760966045 CA946331	348	D>G		No	ClinGen ExAC TOPMed gnomAD
rs937887671 CA26626770	350	W>*		No	ClinGen TOPMed gnomAD
CA341062373 rs1190366677	350	W>G		No	ClinGen gnomAD
CA341062348 rs1215652059	351	K>N		No	ClinGen gnomAD
CA946330 rs750608014	351	K>R		No	ClinGen ExAC gnomAD
TCGA novel	352	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341062335 rs1333934810	352	E>D		No	ClinGen TOPMed
rs1330656019 CA341062308	354	F>L		No	ClinGen Ensembl
rs1259934537 CA341062294	356	P>S		No	ClinGen TOPMed
CA341062284 rs1202742432	357	I>V		No	ClinGen gnomAD
rs572956753 CA946328	358	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs769810640 CA946326	360	N>S		No	ClinGen ExAC gnomAD
CA26626705 rs370337662	365	T>I		No	ClinGen ESP TOPMed gnomAD
rs1442282594 CA341062205	365	T>S		No	ClinGen gnomAD
CA341062185 rs1328663915	368	T>A		No	ClinGen gnomAD
rs776504049 CA946324	368	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	372	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1034067557 CA26626675	378	H>R		No	ClinGen TOPMed
TCGA novel	380	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	381	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs919365504 CA26626659	381	I>S		No	ClinGen TOPMed
CA946319 rs771694233	382	I>M		No	ClinGen ExAC gnomAD
rs367974780 CA946320	382	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA341062066 rs1175506656	385	T>A		No	ClinGen gnomAD
rs747699966 CA946318	385	T>S		No	ClinGen ExAC gnomAD
rs1557492132 CA341062061	386	P>A		No	ClinGen Ensembl
rs1259429312 CA341062042	387	E>*		No	ClinGen gnomAD
CA26626332 rs952598926	387	E>V		No	ClinGen Ensembl
CA26626329 rs1002472538	390	D>E		No	ClinGen TOPMed gnomAD
CA341062010 rs1187031326	391	S>N		No	ClinGen TOPMed
rs1242922949 CA341062007	391	S>R		No	ClinGen gnomAD
rs766328593 CA946303	392	M>T		No	ClinGen ExAC TOPMed gnomAD
CA26626320 rs1025372227	392	M>V		No	ClinGen gnomAD
CA946302 rs760514872	393	T>S		No	ClinGen ExAC gnomAD
TCGA novel	394	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	396	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478785929 CA341061977	396	W>R		No	ClinGen TOPMed
CA946301 rs772963726	397	R>K		No	ClinGen ExAC gnomAD
rs773926336 CA26626308	399	N>K		No	ClinGen ExAC TOPMed gnomAD
rs143523339 CA946299	399	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA26626296 rs777481519	402	V>I		No	ClinGen Ensembl
CA341061924 rs1454241262	403	Q>H		No	ClinGen gnomAD
CA946296 rs767985205	404	L>R		No	ClinGen ExAC gnomAD
CA946294 rs780481996	406	R>*		No	ClinGen ExAC TOPMed gnomAD
CA946295 rs780481996	406	R>G		No	ClinGen ExAC TOPMed gnomAD
CA341061912 rs1326929130	406	R>P		No	ClinGen TOPMed
CA341061913 rs1326929130	406	R>Q		No	ClinGen TOPMed
rs781654966 CA946291	411	D>V		No	ClinGen ExAC gnomAD
CA341061872 rs1207453954	412	E>G		No	ClinGen gnomAD
rs1427431281 CA341061855	413	V>L		No	ClinGen TOPMed gnomAD
CA946268 rs752752940	414	H>P		No	ClinGen ExAC TOPMed gnomAD
CA946267 rs778916154	416	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	417	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756063767 CA946266	421	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA946265 rs375023366	421	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs767441300 CA946264	423	P>L		No	ClinGen ExAC gnomAD
rs761574317 CA946263	424	T>A		No	ClinGen ExAC TOPMed gnomAD
CA946262 rs751345139	424	T>N		No	ClinGen ExAC TOPMed gnomAD
CA26626003 rs761574317	424	T>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	425	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490261609 CA341061765	427	V>A		No	ClinGen TOPMed gnomAD
rs763690308 CA946261	427	V>I		No	ClinGen ExAC gnomAD
rs762622286 CA946260	429	V>G		No	ClinGen ExAC TOPMed gnomAD
CA341061756 rs1267172485	429	V>I		No	ClinGen TOPMed gnomAD
CA946259 rs535478134	430	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA26625931 rs896445171	432	M>T		No	ClinGen Ensembl
rs115101410 RCV000891367 CA946258	432	M>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1196008410 CA341061699	437	S>C		No	ClinGen gnomAD
CA341061694 rs1277889842	438	V>A		No	ClinGen gnomAD
rs371806710 CA341061676	441	T>A		No	ClinGen gnomAD
rs371806710 CA26625884	441	T>S		No	ClinGen gnomAD
rs1260658152 CA341061674	441	T>S		No	ClinGen TOPMed gnomAD
rs1214363543 CA341061665	443	K>E		No	ClinGen gnomAD
CA341061661 rs1467976705	443	K>R		No	ClinGen TOPMed
rs1193156415 CA341061642	446	S>G		No	ClinGen TOPMed
rs960385276 CA26625865	447	T>A		No	ClinGen TOPMed
rs1441478306 CA341061621	449	I>T		No	ClinGen gnomAD
CA946254 rs771548951	449	I>V		No	ClinGen ExAC gnomAD
rs1265332877 CA341061615	450	P>L		No	ClinGen TOPMed
rs778161077 CA946252	451	M>I		No	ClinGen ExAC gnomAD
rs200987612 CA946253	451	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA946251 rs201810434	452	R>*		No	ClinGen ExAC TOPMed gnomAD
rs748343941 CA946250	452	R>Q		No	ClinGen ExAC gnomAD
CA946247 rs753904839	456	V>A		No	ClinGen ExAC gnomAD
rs983941730 CA341061582	456	V>I		No	ClinGen gnomAD
rs983941730 CA26625817	456	V>L		No	ClinGen gnomAD
rs781159012 CA946246	459	T>A		No	ClinGen ExAC gnomAD
CA341061531 rs1167544910	464	E>A		No	ClinGen TOPMed
rs1212700549 CA341061527	464	E>D		No	ClinGen gnomAD
rs1255168224 CA341061533	464	E>K		No	ClinGen gnomAD
CA26625808 rs763896199	465	D>H		No	ClinGen ExAC TOPMed gnomAD
CA946243 rs763896199	465	D>N		No	ClinGen ExAC TOPMed gnomAD
rs746902726 CA946225	469	W>*		No	ClinGen ExAC gnomAD
rs1267252353 CA341060982	469	W>R		No	ClinGen TOPMed
rs1460412631 CA341060949	474	E>K		No	ClinGen gnomAD
rs758280394 CA946223	476	P>S		No	ClinGen ExAC gnomAD
CA946222 rs752525842	479	C>S		No	ClinGen ExAC TOPMed gnomAD
rs752525842 CA26624489	479	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1455252695 CA341060885	483	D>G		No	ClinGen TOPMed
rs765029033 CA946221	483	D>N		No	ClinGen ExAC gnomAD
CA341060880 COSM536740 rs1557484453	484	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	485	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371771069 CA26624482	487	R>G		No	ClinGen ESP TOPMed gnomAD
CA341060850 rs1431103308	488	P>Q		No	ClinGen Ensembl
CA946219 rs754639287	488	P>S		No	ClinGen ExAC gnomAD
CA946218 rs753422559	491	L>P		No	ClinGen ExAC gnomAD
rs765858659 CA946217	492	Q>H		No	ClinGen ExAC gnomAD
rs1212977371 CA341060824	492	Q>L		No	ClinGen TOPMed gnomAD
rs1212977371 CA341060823	492	Q>P		No	ClinGen TOPMed gnomAD
rs113908392 CA946216	493	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1571166569 TCGA novel CA341060811	494	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
TCGA novel	500	C>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA946214 rs767901171	502	S>R		No	ClinGen ExAC gnomAD
TCGA novel	503	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341060672 rs1321115533	503	N>S		No	ClinGen TOPMed
TCGA novel	504	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	505	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA946212 rs774669891	508	K>M		No	ClinGen ExAC gnomAD
CA341060590 rs774669891	508	K>R		No	ClinGen ExAC gnomAD
rs768895516 CA946211	511	L>F		No	ClinGen ExAC gnomAD
rs184300837 CA946210	512	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA341060518 rs1353519834	513	L>V		No	ClinGen gnomAD
TCGA novel	514	N>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341060502 rs1168079156	514	N>S		No	ClinGen TOPMed gnomAD
rs974125890 CA26624435	517	I>T		No	ClinGen TOPMed gnomAD
CA26624406 rs745931048	518	A>S		No	ClinGen ExAC gnomAD
rs745931048 CA946207	518	A>T		No	ClinGen ExAC gnomAD
TCGA novel	520	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777822859 CA946206	522	Q>*		No	ClinGen ExAC gnomAD
rs921966538 CA26624402	523	M>I		No	ClinGen Ensembl
rs374326885 CA946204	524	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs754692279 CA946202	526	D>V		No	ClinGen ExAC gnomAD
CA946203 rs778803357	526	D>Y		No	ClinGen ExAC gnomAD
rs1202675073 CA341060304	527	Q>R		No	ClinGen gnomAD
rs571940865 CA946200	530	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1557483909 CA341060247	531	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	534	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294646423 CA341060141	535	A>T		No	ClinGen gnomAD
CA341060084 rs1397747709	539	G>D		No	ClinGen TOPMed
CA341060090 rs1348600114	539	G>S		No	ClinGen TOPMed
rs202230352 CA946181	546	V>A		No	ClinGen ExAC TOPMed gnomAD
CA341059963 rs1313476457	548	V>L		No	ClinGen gnomAD
rs1244074553 CA341059929	550	D>V		No	ClinGen TOPMed
rs183853995 RCV000886984 CA946180	551	A>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA946178 rs757772139	552	K>I		No	ClinGen ExAC gnomAD
rs1344571281 CA341059892	552	K>N		No	ClinGen TOPMed
rs1003287440 CA26624095	554	I>V		No	ClinGen Ensembl
rs751993272 CA946177	555	M>V		No	ClinGen ExAC TOPMed gnomAD
CA946176 rs764580542	559	Q>E		No	ClinGen ExAC gnomAD
rs1337413539 CA341059787	560	K>Q		No	ClinGen TOPMed gnomAD
TCGA novel	561	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341059761 rs1469361874	561	Q>R		No	ClinGen gnomAD
CA946160 rs756823711	564	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	565	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751054694 CA946159	566	Y>F		No	ClinGen ExAC gnomAD
rs1188790836 CA341056569	567	A>T		No	ClinGen gnomAD
CA341056561 rs1465007223	567	A>V		No	ClinGen gnomAD
rs758869391 CA946157	570	V>I		No	ClinGen ExAC TOPMed gnomAD
CA341056528 rs1336425355	571	R>G		No	ClinGen gnomAD
rs765464144 CA946155	573	S>*		No	ClinGen ExAC gnomAD
CA946156 rs765464144	573	S>L		No	ClinGen ExAC gnomAD
CA341056420 rs1324538140	578	I>T		No	ClinGen TOPMed gnomAD
CA946137 rs748538937	578	I>V		No	ClinGen ExAC gnomAD
CA26648840 rs375973310	579	L>*		No	ClinGen ESP
CA341056387 rs1391005527	581	D>G		No	ClinGen gnomAD
CA341056390 rs1224994192	581	D>Y		No	ClinGen TOPMed gnomAD
rs749600291 CA26648839	582	G>V		No	ClinGen gnomAD
CA341056367 rs1170817099	583	A>V		No	ClinGen gnomAD
TCGA novel	585	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341056334 rs1430983322	586	H>Q		No	ClinGen gnomAD
CA946136 rs779471164	587	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1171213451 CA341056313	588	A>G		No	ClinGen gnomAD
CA341056306 rs1571066773	589	G>C		No	ClinGen Ensembl
CA946134 rs754212850	589	G>D		No	ClinGen ExAC gnomAD
CA946135 rs754212850	589	G>V		No	ClinGen ExAC gnomAD
CA946133 rs766752052	590	M>V		No	ClinGen ExAC TOPMed gnomAD
CA341056284 rs1180708378	591	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	593	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA946131 rs750556786	594	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1012439211 CA26648790	598	V>L		No	ClinGen Ensembl
rs1186364060 CA341055808	600	G>R		No	ClinGen TOPMed
rs1260087410 CA341055800	600	G>V		No	ClinGen TOPMed
CA946128 rs201052208	603	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA946129 rs201052208	603	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA26648782 rs200124442	608	P>A		No	ClinGen Ensembl
rs765204069 CA946127	608	P>L		No	ClinGen ExAC TOPMed gnomAD
CA946106 rs760459754	612	T>I		No	ClinGen ExAC gnomAD
rs772907560 CA946105	614	S>T		No	ClinGen ExAC gnomAD
rs1433442609 CA341055633	615	T>A		No	ClinGen TOPMed
CA341055613 rs1271299010	617	A>T		No	ClinGen TOPMed
CA946102 rs773875461	618	M>I		No	ClinGen ExAC gnomAD
rs761273830 CA946103	618	M>V		No	ClinGen ExAC gnomAD
rs376597094 CA946100	621	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	622	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA946098 rs770346807	623	P>L		No	ClinGen ExAC gnomAD
rs867642174 CA26648571	623	P>S		No	ClinGen Ensembl
CA26648544 rs757896742	624	A>S		No	ClinGen Ensembl
rs781314917 CA946096	625	H>N		No	ClinGen ExAC TOPMed gnomAD
rs781314917 CA341055532	625	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1209622397 CA341055510	627	V>A		No	ClinGen gnomAD
rs1323773987 CA341055499	629	I>V		No	ClinGen TOPMed
CA341055466 rs1202678875	632	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1260653411 CA341055463	632	T>R		No	ClinGen TOPMed
rs991048969 CA26648532	633	M>I		No	ClinGen Ensembl
TCGA novel	633	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341055458 rs1334392586	633	M>V		No	ClinGen gnomAD
CA341055441 rs1271666539	634	H>R		No	ClinGen gnomAD
rs959574424 CA26648526	635	Y>F		No	ClinGen Ensembl
CA946093 rs777857782	636	A>S		No	ClinGen ExAC TOPMed gnomAD
rs777857782 CA341055423	636	A>T		No	ClinGen ExAC TOPMed gnomAD
CA341055374 rs1429205574	641	E>K		No	ClinGen gnomAD
rs754921202 CA946092	642	E>K		No	ClinGen ExAC gnomAD
rs200108256 CA946091	643	Y>C		No	ClinGen ExAC gnomAD
rs1439742058 CA341055297	647	D>H		No	ClinGen gnomAD
rs1439742058 CA341055294	647	D>N		No	ClinGen gnomAD
CA26648495 rs796915736	647	D>V		No	ClinGen TOPMed
CA946090 rs750382272	648	I>N		No	ClinGen ExAC TOPMed gnomAD
CA946089 rs750382272	648	I>T		No	ClinGen ExAC TOPMed gnomAD
CA341055284 rs1429787898	648	I>V		No	ClinGen TOPMed
TCGA novel	649	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA946088 rs750188552	650	Q>*		No	ClinGen ExAC gnomAD
rs767111482 CA946087	654	R>T		No	ClinGen ExAC TOPMed gnomAD
rs761482068 CA946086	656	G>C		No	ClinGen ExAC gnomAD
CA946085 rs773751926	656	G>D		No	ClinGen ExAC gnomAD
CA341055198 rs1443376631	657	R>*		No	ClinGen TOPMed gnomAD
rs1443376631 CA341055199	657	R>G		No	ClinGen TOPMed gnomAD
rs768148277 CA946084	657	R>Q		No	ClinGen ExAC gnomAD
CA946083 rs762544027	659	Q>E		No	ClinGen ExAC gnomAD
CA946082 rs776193091	659	Q>P		No	ClinGen ExAC
CA26648049 rs767764848	661	D>V		No	ClinGen Ensembl
rs750210407 CA946066	662	T>A		No	ClinGen ExAC gnomAD
TCGA novel	662	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183396289 CA341055088	663	T>I		No	ClinGen gnomAD
CA341055073 rs1232691472	665	T>S		No	ClinGen gnomAD
CA946064 rs368136550	668	I>T		No	ClinGen ESP ExAC gnomAD
rs767289102 CA946065	668	I>V		No	ClinGen ExAC TOPMed gnomAD
CA946062 rs372108143	669	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1446118367 CA341055020	670	T>I		No	ClinGen TOPMed
rs1302736891 CA341055018	671	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA341055017 rs762598590	671	R>P		No	ClinGen ExAC TOPMed gnomAD
rs762598590 CA946061	671	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA341055007 rs1372076695	672	L>*		No	ClinGen gnomAD
CA341054992 rs1277569171	673	S>I		No	ClinGen gnomAD
CA946060 rs775106667	674	T>A		No	ClinGen ExAC gnomAD
rs765875887 CA946059	675	R>K		No	ClinGen ExAC gnomAD
rs368428379 CA26648004	677	K>E		No	ClinGen ESP TOPMed
CA341054944 rs1357525798	678	Y>C		No	ClinGen TOPMed gnomAD
CA946057 rs776872414	679	I>V		No	ClinGen ExAC gnomAD
rs1407452619 CA341054910	683	A>T		No	ClinGen gnomAD
CA946055 rs374636425	684	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA26647991 rs774725943	687	T>P		No	ClinGen Ensembl
CA26647989 rs950959772	687	T>S		No	ClinGen Ensembl
rs1252951333	690	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs373788141 CA946041	692	L>S		No	ClinGen ESP ExAC gnomAD
CA946040 rs759964404	693	H>R		No	ClinGen ExAC TOPMed gnomAD
rs201222024 CA946038	695	H>L		No	ClinGen 1000Genomes ExAC gnomAD
CA341054817 rs1210239683	695	H>Y		No	ClinGen TOPMed gnomAD
rs761142943 CA946037	697	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1242258064 CA341054798	698	E>*		No	ClinGen gnomAD
TCGA novel	701	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341054761 rs1313430666	703	E>*		No	ClinGen gnomAD
CA946036 rs773410728	703	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1364608992 CA341054750	704	I>M		No	ClinGen gnomAD
rs772307411 CA946035	707	H>R		No	ClinGen ExAC gnomAD
CA341054724 rs1164463218	709	I>V		No	ClinGen gnomAD
rs80085795 CA26647612	710	T>M		No	ClinGen TOPMed gnomAD
CA946034 rs748313759	710	T>P		No	ClinGen ExAC gnomAD
CA341054710 rs1477914924	711	D>G		No	ClinGen TOPMed
CA946033 rs774423067	713	N>D		No	ClinGen ExAC gnomAD
CA341054691 rs1245704703	714	I>F		No	ClinGen TOPMed gnomAD
CA341054692 rs1245704703	714	I>V		No	ClinGen TOPMed gnomAD
CA341054681 rs1571056971	715	A>V		No	ClinGen Ensembl
CA341054675 rs1189866937	716	V>G		No	ClinGen gnomAD
rs200863694 CA946031	720	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs200863694 CA341054650	720	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs200189845 CA26647601	720	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA946030 rs781235178	725	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs770740284 CA946029	727	R>*		No	ClinGen ExAC gnomAD
CA946028 rs746849418	727	R>S		No	ClinGen ExAC gnomAD
CA946027 rs546156770	728	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546156770 CA946026	728	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	728	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	728	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs949283466 CA26647588	730	K>E		No	ClinGen TOPMed gnomAD
CA26647586 rs1055141893	734	H>R		No	ClinGen TOPMed
CA946025 rs190125328	734	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341054555 rs1366016209	735	Y>*		No	ClinGen gnomAD
CA341054540 rs866322472	736	G>D		No	ClinGen gnomAD
CA26646034 rs866322472	736	G>V		No	ClinGen gnomAD
rs1174074758 CA341054525	738	A>V		No	ClinGen TOPMed
CA341054517 rs1225544201	740	G>*		No	ClinGen TOPMed gnomAD
rs1465751778 CA341054501	742	N>S		No	ClinGen TOPMed
CA341054481 rs1430932398	745	G>R		No	ClinGen gnomAD
CA341054445 rs1400901273	750	L>V		No	ClinGen gnomAD
rs756651903 CA946001	751	Q>*		No	ClinGen ExAC gnomAD
rs751000156 CA946000	751	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1392616713	753	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341054379 rs748828981	757	N>I		No	ClinGen ExAC TOPMed gnomAD
CA945984 rs748828981	757	N>S		No	ClinGen ExAC TOPMed gnomAD
CA945983 rs779755805	758	L>P		No	ClinGen ExAC gnomAD
TCGA novel	760	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341054344 rs1327294793	762	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1485238597 CA341054330	765	D>Y		No	ClinGen TOPMed
rs781690914 CA945980	766	L>F		No	ClinGen ExAC TOPMed gnomAD
CA341054312 rs1340572704	767	I>M		No	ClinGen gnomAD
rs1450788148 CA341054317	767	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	768	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA945978 rs751940190	769	M>V		No	ClinGen ExAC gnomAD
rs758649359 CA341054292	770	D>G		No	ClinGen ExAC TOPMed gnomAD
RCV000503810 CA945977 rs143399622	770	D>N		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs758649359 CA945976	770	D>V		No	ClinGen ExAC TOPMed gnomAD
CA341054283 rs1446395217	771	E>D		No	ClinGen TOPMed gnomAD
CA945975 rs369106562	772	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA26644511 rs550108983	772	G>S		No	ClinGen Ensembl
CA26644498 rs866122639	774	N>K		No	ClinGen Ensembl
CA945973 rs759737721	775	F>L		No	ClinGen ExAC TOPMed gnomAD
CA341054256 rs1296434498	776	K>Q		No	ClinGen TOPMed
rs1347527660 CA341054253	776	K>R		No	ClinGen TOPMed
rs1473058663 CA341054245	777	P>R		No	ClinGen gnomAD
CA341054242 rs1557881102	778	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA341054238 rs1406081854	778	T>I		No	ClinGen TOPMed
rs1461822231 CA341052328	780	A>T		No	ClinGen gnomAD
CA341052300 rs1317327398	782	R>I		No	ClinGen TOPMed
CA945943 rs776121467	784	M>I		No	ClinGen ExAC gnomAD
rs199795312 CA26632358	785	A>G		No	ClinGen Ensembl
CA945942 rs531270537	785	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA945941 rs202216683	786	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1570954529 CA341052234	787	Y>D		No	ClinGen Ensembl
TCGA novel	787	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1349674398 CA341052208	788	Y>C		No	ClinGen gnomAD
CA945940 rs778191362	790	T>A		No	ClinGen ExAC TOPMed gnomAD
rs778191362 CA341052175	790	T>P		No	ClinGen ExAC TOPMed gnomAD
CA945939 rs772600370	792	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA945937 rs146519128	794	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs971893384 CA26632304	797	F>I		No	ClinGen Ensembl
rs754183196 CA945935	798	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA341051988 rs1470399324	800	I>V		No	ClinGen TOPMed gnomAD
COSM536744 CA341051963 rs1411733775	801	S>N	lung Variant assessed as Somatic; 4.623e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs377560856 CA945932	802	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1413771185 CA341051936	803	K>E		No	ClinGen TOPMed
CA945931 rs763964671	804	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	807	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752444592 CA945929	807	S>P		No	ClinGen ExAC TOPMed
CA945928 rs764942528	808	D>Y		No	ClinGen ExAC gnomAD
CA341051829 rs1238652632	809	L>P		No	ClinGen gnomAD
rs1210169642 CA341051294	811	T>I		No	ClinGen gnomAD
TCGA novel	812	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341051242 rs1264582986	816	C>S		No	ClinGen gnomAD
CA945911 rs199920073	817	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA945912 rs199920073	817	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA341051216 rs1323367104	818	E>G		No	ClinGen gnomAD
rs781272018 CA945910	820	L>P		No	ClinGen ExAC gnomAD
CA341051183 rs1246882830	821	D>A		No	ClinGen gnomAD
rs758269920 COSM1748656 CA945909	822	I>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs566465324 CA26631244	822	I>T		No	ClinGen Ensembl
CA945908 rs752695113	823	Q>*		No	ClinGen ExAC gnomAD
rs1384113337 CA341051112	828	E>K		No	ClinGen TOPMed gnomAD
COSM913179 rs200685742 CA945907	829	K>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs967527015 CA26631219	830	K>R		No	ClinGen TOPMed
CA945906 rs753599200	831	T>A		No	ClinGen ExAC gnomAD
rs753599200 CA945905	831	T>S		No	ClinGen ExAC gnomAD
rs766050562 CA945904	832	L>R		No	ClinGen ExAC gnomAD
rs994404901 CA26631188	835	L>S		No	ClinGen TOPMed
CA945903 rs377354571	836	N>K		No	ClinGen ESP ExAC gnomAD
CA945902 rs772603368	837	K>R		No	ClinGen ExAC gnomAD
CA945900 rs761218679	838	D>G		No	ClinGen ExAC gnomAD
CA341050973 rs1162936513	840	N>S		No	ClinGen TOPMed
CA945898 rs769258836	841	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA945899 rs775049733 COSM1344850	841	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1329229559 CA341050950	843	T>P		No	ClinGen TOPMed gnomAD
CA341050941 rs200915273	844	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA341050936 rs1334366526	844	I>N		No	ClinGen TOPMed
CA945897 rs200915273	844	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1481993376 CA341050856	848	M>I		No	ClinGen gnomAD
CA341050860 rs1181395242	848	M>K		No	ClinGen gnomAD
rs1269307059 CA341050863	848	M>V		No	ClinGen gnomAD
CA26631054 rs867718171	849	E>*		No	ClinGen Ensembl
CA341050809 rs1188444018	852	I>S		No	ClinGen TOPMed
rs1272587797 CA341050796	853	K>R		No	ClinGen gnomAD
rs202028945 CA945883	855	R>K		No	ClinGen 1000Genomes TOPMed gnomAD
rs1197688983 CA341050758	855	R>S		No	ClinGen gnomAD
CA945881 rs766131744	859	V>G		No	ClinGen ExAC
rs182873590 CA945882	859	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA341050659 rs1255667614	860	N>T		No	ClinGen gnomAD
rs1327529208 CA341049706	863	I>T		No	ClinGen TOPMed gnomAD
rs763588773 CA26628225	863	I>V		No	ClinGen Ensembl
rs1391353631 CA341049695	864	Q>*		No	ClinGen TOPMed
rs747123527 CA945863	865	A>V		No	ClinGen ExAC gnomAD
CA945862 rs777781068	866	Q>K		No	ClinGen ExAC gnomAD
CA341049644 rs1339388917	867	L>I		No	ClinGen gnomAD
rs1557842330 CA341049617	868	G>A		No	ClinGen Ensembl
rs1342611530 CA341049605	869	C>G		No	ClinGen TOPMed
CA341049553 rs148748547	872	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1454257848 COSM1296787 CA341049535	872	I>M	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA945861 rs148748547	872	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749289510 CA945860	873	Q>*		No	ClinGen ExAC gnomAD
CA945859 rs779840431	875	F>L		No	ClinGen ExAC gnomAD
rs1030101602 CA26628163	877	L>F		No	ClinGen TOPMed
rs976430829 CA341049429	878	T>P		No	ClinGen TOPMed
CA26628159 rs976430829	878	T>S		No	ClinGen TOPMed
CA341049382 rs1279763713	880	D>G		No	ClinGen TOPMed gnomAD
CA945857 rs369341064	881	T>N	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs377522857 CA945855 COSM198319	882	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA945854 rs763634505	885	F>C		No	ClinGen ExAC TOPMed gnomAD
CA341049232 rs1244050922	887	H>R		No	ClinGen gnomAD
rs753307675 CA945852	890	R>*		No	ClinGen ExAC gnomAD
CA945851 rs765642526	890	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1286723011 CA341049178	891	I>V		No	ClinGen TOPMed gnomAD
CA341049041 rs1288397011	894	W>*		No	ClinGen TOPMed gnomAD
rs1288397011 CA341049036	894	W>C		No	ClinGen TOPMed gnomAD
rs1356184373 CA341049119	894	W>R		No	ClinGen gnomAD
rs1359556434 CA341049021	895	L>F		No	ClinGen gnomAD
rs1451141223 CA341049009	897	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA945834 rs777557586	898	F>S		No	ClinGen ExAC gnomAD
CA945833 rs777557586	898	F>Y		No	ClinGen ExAC gnomAD
rs1225730965 CA341048972	899	V>E		No	ClinGen gnomAD
CA945831 rs752119436	901	A>T		No	ClinGen ExAC TOPMed gnomAD
rs759913049 CA945829	902	Q>E		No	ClinGen ExAC gnomAD
rs759913049 CA945830	902	Q>K		No	ClinGen ExAC gnomAD
CA945828 rs754243616	903	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA945827 rs766795535	903	E>G		No	ClinGen ExAC gnomAD
TCGA novel	905	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA945826 rs761013477	906	F>L		No	ClinGen ExAC gnomAD
CA26627818 rs1055206084	908	V>L		No	ClinGen TOPMed
rs773471071 CA945825	909	L>P		No	ClinGen ExAC gnomAD
rs772248526 CA945824	911	N>I		No	ClinGen ExAC gnomAD
rs761908956 CA945823	913	L>S		No	ClinGen ExAC TOPMed gnomAD
CA341048807 rs1379816268	914	I>V		No	ClinGen TOPMed
rs774242792 CA945822	917	K>R		No	ClinGen ExAC gnomAD
COSM198318 CA945821 rs778554439	918	C>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA26627735 rs1024277076	918	C>Y		No	ClinGen TOPMed gnomAD
rs745730719 CA945819	920	R>K		No	ClinGen ExAC gnomAD
rs941670598 CA26627706	920	R>S		No	ClinGen TOPMed
rs745730719 CA945820	920	R>T		No	ClinGen ExAC gnomAD
rs1437790398 CA740229689	921	C>*		No	ClinGen TOPMed
rs1202260649 CA341048724	921	C>Y		No	ClinGen gnomAD
CA341048649 rs1490636287	928	L>M		No	ClinGen gnomAD
rs781188345 CA945818	932	K>E		No	ClinGen ExAC gnomAD
rs1201894430 CA341048603	933	Q>K		No	ClinGen gnomAD
rs899351590 CA26627683	935	E>G		No	ClinGen Ensembl
CA341048583 rs1212228886	935	E>K		No	ClinGen TOPMed
CA26627671 rs1015088198	937	I>M		No	ClinGen TOPMed gnomAD
CA945795 rs11584478 VAR_049338	939	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371246671 CA945794	940	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs147392516 RCV000500123 CA26625292	940	T>I		No	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD
rs778614772 CA945793	942	S>*		No	ClinGen ExAC gnomAD
CA341047890 rs74843031	945	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM913174 CA945791 rs368172224	946	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA945790 rs780568804	947	N>K		No	ClinGen ExAC gnomAD
rs1470531811 CA341047854	947	N>S		No	ClinGen gnomAD
CA945789 rs756562539	949	G>D		No	ClinGen ExAC gnomAD
CA341047800 rs1421361599	950	L>F		No	ClinGen gnomAD
CA341047746 rs1441332739	954	K>*		No	ClinGen TOPMed
CA341047730 rs1408078656	954	K>R		No	ClinGen gnomAD
rs1180713834	956	I>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA341047684 rs1442228664	956	I>M		No	ClinGen gnomAD
rs1207485155 CA341047691	956	I>T		No	ClinGen TOPMed
CA945788 rs750796433	957	E>*		No	ClinGen ExAC gnomAD
CA945787 rs767798908	960	D>G		No	ClinGen ExAC TOPMed gnomAD
CA945786 rs757640828 COSM913173	963	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1317381116 CA341047527	966	L>*		No	ClinGen gnomAD
rs773913597 CA945775	967	I>T		No	ClinGen ExAC gnomAD
rs1220132406 CA341046813	969	N>H		No	ClinGen TOPMed gnomAD
CA945774 rs368308266	969	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA945773 rs748816269	971	H>Q		No	ClinGen ExAC gnomAD
CA945771 rs770286045	972	P>H		No	ClinGen ExAC gnomAD
CA945772 rs779478584	972	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746437170 CA945770	973	P>R		No	ClinGen ExAC gnomAD
CA341046762 rs1293687080	973	P>S		No	ClinGen TOPMed gnomAD
CA26624869 rs954094678	975	G>V		No	ClinGen TOPMed gnomAD
rs570133605 CA945768	978	I>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751924199 CA945767	981	T>S		No	ClinGen ExAC gnomAD
rs777890434 CA945766	982	V>M		No	ClinGen ExAC TOPMed gnomAD
CA945763 rs765341582	983	M>I		No	ClinGen ExAC TOPMed gnomAD
CA945764 rs752840298	983	M>L		No	ClinGen ExAC
rs752159277 CA945762	984	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA945761 rs750434144	985	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1006178013 CA26624788	986	P>Q		No	ClinGen Ensembl
CA341046644 rs139727149	988	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs145692164 CA945760	988	Y>H		No	ClinGen ESP ExAC
rs768203734 CA945757	989	E>G		No	ClinGen ExAC TOPMed gnomAD
rs774145972 CA945758	989	E>K		No	ClinGen ExAC gnomAD
rs1386283535 CA341046630	991	K>E		No	ClinGen TOPMed
CA341046625 rs1223399649	991	K>N		No	ClinGen gnomAD
rs1440383946 CA341046618	992	V>G		No	ClinGen TOPMed
CA26624527 rs532368957	996	T>A		No	ClinGen 1000Genomes
TCGA novel	997	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341046571 rs140136537	997	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1383805542 CA341046560	999	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764012513 CA945736	999	S>N		No	ClinGen ExAC TOPMed gnomAD
rs762719622 CA945735	999	S>R		No	ClinGen ExAC gnomAD
CA945734 rs143279701	1000	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA945733 rs370995086	1001	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA945732 rs148381777 COSM1561036	1002	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA341046515 rs1470858969	1006	L>S		No	ClinGen gnomAD
CA945729 rs747485145	1007	V>M		No	ClinGen ExAC gnomAD
rs773588501 CA945728	1009	V>I		No	ClinGen ExAC TOPMed gnomAD
rs377715866 CA945727	1010	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs200606149 CA26624468	1013	N>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs747572458 CA26624452	1013	N>K		No	ClinGen gnomAD
CA945725 rs144720491	1015	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755200362 CA945724	1016	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs763919508 CA341046428	1020	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA945718 rs763919508	1020	K>Q		No	ClinGen ExAC
rs889015452 CA26624397	1021	R>I		No	ClinGen Ensembl
rs1239228525 CA341046401	1024	S>A		No	ClinGen gnomAD
rs925771499 CA26624372	1024	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs764895405 CA945715	1025	D>N		No	ClinGen ExAC TOPMed gnomAD
CA945714 rs759132786	1026	S>C		No	ClinGen ExAC gnomAD
TCGA novel	1030	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA945712 rs765981693	1033	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1420435389 CA341046329	1035	D>G		No	ClinGen gnomAD
CA945709 rs772667163	1035	D>H		No	ClinGen ExAC gnomAD
CA945705 rs749588162	1036	A>G		No	ClinGen ExAC gnomAD
rs377647325 CA945707	1036	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs377647325 CA945706	1036	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780121357 CA945704	1037	D>N		No	ClinGen ExAC TOPMed gnomAD
rs916924806 CA26624257	1039	Q>*		No	ClinGen Ensembl
CA945703 rs756263131	1039	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA341046300 rs1445636825	1040	V>L		No	ClinGen gnomAD
CA945701 rs771793557	1041	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1183896046 CA341046286	1042	Y>C		No	ClinGen Ensembl
rs201222637 CA26624192	1045	K>N		No	ClinGen Ensembl
rs764946665 CA945698	1046	I>M		No	ClinGen ExAC TOPMed gnomAD
COSM287412 CA945697 rs754765102	1047	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1176059979 CA341046235	1048	D>V		No	ClinGen TOPMed
CA341046238 rs1408390840	1048	D>Y		No	ClinGen gnomAD
CA341046222 rs1376646428	1050	V>G		No	ClinGen TOPMed
CA26623070 rs1026758962	1050	V>I		No	ClinGen gnomAD
rs543444471 CA341046213	1052	L>V		No	ClinGen gnomAD
CA341046209 rs1372928795	1053	K>E		No	ClinGen TOPMed gnomAD
rs558746432 CA945682	1055	G>E		No	ClinGen ExAC TOPMed gnomAD
CA945683 rs147693313	1055	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA945680 rs778809806	1056	S>I		No	ClinGen ExAC TOPMed gnomAD
CA26622995 rs778809806	1056	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1056	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26623001 rs778809806	1056	S>T		No	ClinGen ExAC TOPMed gnomAD
CA945678 rs777243838	1059	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1557832722 CA341046151	1061	I>M		No	ClinGen Ensembl
CA945677 rs779776511	1061	I>V		No	ClinGen ExAC gnomAD
CA26622946 rs1051937552	1062	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1447024154 CA341046142	1063	V>E		No	ClinGen gnomAD
rs755663970 CA945676	1065	R>K		No	ClinGen ExAC gnomAD
TCGA novel	1066	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1069	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767200385 CA945674	1069	S>P		No	ClinGen ExAC gnomAD
TCGA novel	1069	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26622936 rs756087240	1071	D>G		No	ClinGen TOPMed gnomAD
CA341046066 rs1440093185	1074	I>M		No	ClinGen gnomAD
TCGA novel	1074	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761389251 CA945673	1074	I>V		No	ClinGen ExAC TOPMed gnomAD
rs201708032 CA945672	1075	N>D		No	ClinGen ExAC TOPMed gnomAD
CA945671 rs764662804	1077	I>V		No	ClinGen ExAC TOPMed gnomAD
CA26622913 rs916263788	1078	S>N		No	ClinGen Ensembl
rs1447705724 CA341046021	1081	F>S		No	ClinGen TOPMed
CA26622585 rs892526483	1084	L>F		No	ClinGen gnomAD
CA341045993 rs1361531480	1085	D>N		No	ClinGen gnomAD
rs764687052 CA945650	1087	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	1088	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA945649 rs763315039	1090	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1090	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA945647 rs765588815	1091	T>I		No	ClinGen ExAC TOPMed gnomAD
CA945648 rs765588815	1091	T>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1092	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1093	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs560418657 CA945646	1095	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA26622548 rs370662504	1096	E>G		No	ClinGen Ensembl
CA945645 rs776890094	1098	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs766558332 CA945644	1099	R>K		No	ClinGen ExAC gnomAD
CA341045894 rs1360613420	1099	R>S		No	ClinGen gnomAD
rs201592712 CA945643	1105	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA945642 rs773217064	1107	Q>R		No	ClinGen ExAC TOPMed gnomAD
COSM1344846 rs768642836 CA945641	1110	S>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1427724407 CA341045790	1114	I>F		No	ClinGen gnomAD
TCGA novel	1114	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775482157 CA945640	1117	S>F		No	ClinGen ExAC gnomAD
CA945639 rs775482157	1117	S>Y		No	ClinGen ExAC gnomAD
CA26622491 rs766462393	1119	H>Q		No	ClinGen Ensembl
rs769522086 CA945638	1119	H>Y		No	ClinGen ExAC gnomAD
rs745625607 CA945637	1121	D>H		No	ClinGen ExAC gnomAD
CA341045738 rs1268076642	1122	I>V		No	ClinGen gnomAD
rs781020900 CA945636	1123	S>C		No	ClinGen ExAC gnomAD
rs1350626407 CA341045731	1123	S>P		No	ClinGen TOPMed
CA341045723 rs1489871823	1124	T>I		No	ClinGen TOPMed gnomAD
CA945635 rs187629987	1125	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341045715 rs147501546	1126	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA945634 rs147501546	1126	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA341045716 rs147501546	1126	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1307320223 CA341045712	1126	A>V		No	ClinGen gnomAD
TCGA novel	1130	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777084875 CA945633	1130	K>T		No	ClinGen ExAC TOPMed gnomAD
rs770714735 CA945615	1132	T>M		No	ClinGen ExAC TOPMed gnomAD
CA26649561 rs757895749	1134	A>D		No	ClinGen ExAC gnomAD
CA945612 rs757895749	1134	A>G		No	ClinGen ExAC gnomAD
rs1393966301 CA341053864	1134	A>T		No	ClinGen TOPMed gnomAD
CA341053852 rs1465990675	1135	S>N		No	ClinGen gnomAD
CA945611 rs747665088	1138	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1557764957 CA341053816	1138	P>S		No	ClinGen Ensembl
TCGA novel	1138	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26649541 rs972641605	1140	N>D		No	ClinGen Ensembl
CA26649540 rs962291504	1141	R>*		No	ClinGen TOPMed
CA945610 rs779320203	1141	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA341053783 rs1379461543	1142	E>K		No	ClinGen gnomAD
rs1481587455 CA341053763	1143	C>Y		No	ClinGen TOPMed
rs755418126 CA945609	1144	N>H		No	ClinGen ExAC TOPMed gnomAD
rs754204397 COSM227195 CA945608	1144	N>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA341053717 rs1248741457	1147	C>F		No	ClinGen gnomAD
rs1180687810 CA341053710	1148	K>E		No	ClinGen gnomAD
rs745836745 CA26649519	1150	K>R		No	ClinGen Ensembl
rs150703340 CA945607	1151	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1458515791 CA341053666	1151	H>R		No	ClinGen gnomAD
rs767743030 CA945604	1155	H>N		No	ClinGen ExAC gnomAD
rs751605402 CA945603	1155	H>P		No	ClinGen ExAC gnomAD
rs751605402 CA945602	1155	H>R		No	ClinGen ExAC gnomAD
rs1417024068 CA341053608	1156	D>G		No	ClinGen TOPMed
CA341053594 rs74938180	1157	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA945601 rs74938180	1157	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759482816 CA945600	1158	C>R		No	ClinGen ExAC TOPMed gnomAD
CA341053537 rs1171224025	1159	K>N		No	ClinGen TOPMed
CA341053515 rs1464503780	1162	V>I		No	ClinGen TOPMed
CA341053489 rs1179064123	1164	Q>*		No	ClinGen TOPMed
CA341053487 rs1570747219	1164	Q>P		No	ClinGen Ensembl
CA341053477 rs1205009090	1165	K>E		No	ClinGen gnomAD
CA945589 rs749852216	1165	K>N		No	ClinGen ExAC gnomAD
CA945590 rs768148920	1165	K>R		No	ClinGen ExAC gnomAD
CA26649383 rs1052368835	1166	S>L		No	ClinGen TOPMed
rs750756102 CA945586	1168	I>M		No	ClinGen ExAC gnomAD
rs540774438 CA945587	1168	I>S		No	ClinGen 1000Genomes ExAC gnomAD
rs780515825 CA945588	1168	I>V		No	ClinGen ExAC gnomAD
rs757440021 CA945584	1172	T>A		No	ClinGen ExAC gnomAD
rs751599543 CA341053376	1174	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA945583 rs751599543 COSM1209624	1174	S>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs142421687 CA945582	1175	S>L		No	ClinGen ESP ExAC gnomAD
rs763115821 CA945581	1176	Y>*		No	ClinGen ExAC gnomAD
CA26649307 rs892233117	1176	Y>N		No	ClinGen TOPMed
CA341053345 rs1382338293	1177	L>F		No	ClinGen TOPMed
CA945580 rs576734052	1178	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1179	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26649266 rs939210373	1181	R>S		No	ClinGen TOPMed gnomAD
rs1473991704 CA341053295	1182	N>K		No	ClinGen gnomAD
CA26649258 rs1056200813	1184	N>S		No	ClinGen Ensembl
CA945579 rs766387363	1186	V>D		No	ClinGen ExAC gnomAD
rs1303059584 CA341053236	1188	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs773014048 CA945577	1189	V>I		No	ClinGen ExAC gnomAD
rs145403079 CA945576	1190	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs576011377 CA945575	1193	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773978254 CA945574	1194	R>C		No	ClinGen ExAC TOPMed gnomAD
CA945573 rs376664019	1194	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1194	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA945550 rs746457004	1198	Q>E		No	ClinGen ExAC gnomAD
rs771378791 CA945548	1201	K>E		No	ClinGen ExAC TOPMed gnomAD
CA945547 rs747351605	1202	S>Y		No	ClinGen ExAC
CA341052584 rs375403709	1204	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs375403709 CA945546	1204	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs371441106 CA945545	1204	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs748253423 CA26648172	1206	D>H		No	ClinGen ExAC TOPMed gnomAD
rs748253423 CA945544	1206	D>N		No	ClinGen ExAC TOPMed gnomAD
CA341052526 rs1469684948	1209	E>V		No	ClinGen gnomAD
rs779199817 CA945543	1211	G>C		No	ClinGen ExAC gnomAD
CA26648164 rs368824348	1211	G>D		No	ClinGen ESP TOPMed
CA341052482 rs1225640899	1212	F>C		No	ClinGen TOPMed gnomAD
rs147905224 CA945541	1214	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232001565 CA341052442	1215	K>N		No	ClinGen gnomAD
CA945540 rs767326294	1217	S>P		No	ClinGen ExAC gnomAD
rs1557761175 CA341052422	1217	S>Y		No	ClinGen Ensembl
CA341052416 rs1258393542	1218	L>F		No	ClinGen gnomAD
CA341052415 rs1202975304	1218	L>H		No	ClinGen gnomAD
CA945536 rs763746408	1219	P>R		No	ClinGen ExAC TOPMed gnomAD
CA945537 rs376142463	1219	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1368370023 CA341052401	1220	S>G		No	ClinGen TOPMed
rs1570740284 CA341052394	1220	S>T		No	ClinGen Ensembl
rs755216470 CA26648114	1221	I>V		No	ClinGen gnomAD
rs1557761045 CA341052373	1222	S>T		No	ClinGen Ensembl
CA341052365 rs1279216444	1223	R>G		No	ClinGen gnomAD
rs1309368134 CA341052360	1223	R>K		No	ClinGen TOPMed
TCGA novel	1224	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1225	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA945516 rs764769748	1229	I>M		No	ClinGen ExAC TOPMed gnomAD
CA341052141 rs1449312754 COSM2157475	1229	I>V	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA26647614 rs759121269	1230	S>A		No	ClinGen ExAC TOPMed gnomAD
CA945515 rs759121269	1230	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1421862147 CA341052052	1234	I>T		No	ClinGen gnomAD
CA945512 rs761198979	1234	I>V		No	ClinGen ExAC TOPMed gnomAD
rs773839715 CA945511	1235	M>R		No	ClinGen ExAC gnomAD
rs916117682 CA26647598	1237	Q>*		No	ClinGen Ensembl
rs772612244 CA945510	1237	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA341051979 rs1214592775	1238	W>*		No	ClinGen gnomAD
rs762237061 CA945509	1238	W>G		No	ClinGen ExAC gnomAD
rs762237061 CA341051994	1238	W>R		No	ClinGen ExAC gnomAD
rs866263287 CA26647587	1240	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs374375439 CA945508	1243	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA945507 rs768706788	1244	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA341051862 rs1244282284	1244	Y>C		No	ClinGen gnomAD
CA26647575 rs761447688	1245	G>R		No	ClinGen Ensembl
CA341051833 rs1315205379	1246	K>E		No	ClinGen gnomAD
CA341051816 rs1300445773	1246	K>N		No	ClinGen TOPMed
rs749395890 CA945506	1247	V>I		No	ClinGen ExAC TOPMed gnomAD
CA945505 rs202193070	1248	R>I		No	ClinGen 1000Genomes ExAC gnomAD
CA341051797 rs202193070	1248	R>T		No	ClinGen 1000Genomes ExAC gnomAD
rs148782948 CA945504	1251	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs372320648 CA945503	1254	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1255	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758233903 CA945501	1258	E>K		No	ClinGen ExAC gnomAD
CA945480 rs747989952	1262	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1265	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs556591938 CA945479	1268	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341050592 rs1256511728	1268	N>K		No	ClinGen gnomAD
rs556591938 CA341050598	1268	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341050573 rs1271274247	1270	V>D		No	ClinGen gnomAD
rs1570717600 CA341050565	1271	W>G		No	ClinGen Ensembl
rs754801131 CA945478	1271	W>L		No	ClinGen ExAC TOPMed gnomAD
rs748939655 CA945477	1274	F>L		No	ClinGen ExAC gnomAD
CA945475 rs376093340	1275	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs779818871 CA945476	1275	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1017777940 CA26644590	1277	E>K		No	ClinGen TOPMed
rs768151592 CA945473	1278	N>S		No	ClinGen ExAC gnomAD
rs1447942464 CA341050431	1282	T>N		No	ClinGen TOPMed
rs538274561 CA341050386	1286	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA945471 rs538274561	1286	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200074366 CA945469	1287	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200074366 CA945468	1287	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA945466 rs370338028	1288	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs370338028 CA945467	1288	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA341050284 rs1160233749	1295	G>R		No	ClinGen TOPMed
rs752053945 CA945451	1296	F>L		No	ClinGen ExAC gnomAD
CA341049624 rs1448831022	1297	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1313608525 CA341049606	1298	N>S		No	ClinGen gnomAD
rs1465613110 CA341049574	1299	T>I		No	ClinGen TOPMed
CA26643913 rs765429338	1300	L>F		No	ClinGen TOPMed
CA341049534 rs1419171546	1301	S>I		No	ClinGen gnomAD
CA341049540 rs1419171546	1301	S>N		No	ClinGen gnomAD
rs764632997 CA945450	1303	S>N		No	ClinGen ExAC
rs758721782 CA945449	1306	G>A		No	ClinGen ExAC gnomAD
CA26643898 rs867643442	1306	G>R		No	ClinGen Ensembl
CA341049391 rs1160623243	1309	L>V		No	ClinGen gnomAD
CA945448 rs753011716	1310	P>H		No	ClinGen ExAC gnomAD
CA945447 rs765458676	1312	Q>E		No	ClinGen ExAC gnomAD
rs1396930875 CA341049332	1313	E>K		No	ClinGen TOPMed
TCGA novel	1316	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1444684094 CA341049230	1317	K>N		No	ClinGen gnomAD
CA341049237 rs1333125672	1317	K>R		No	ClinGen TOPMed
CA26643876 rs754628589	1318	F>L		No	ClinGen Ensembl
rs760774033 CA945443	1322	M>I		No	ClinGen ExAC gnomAD
rs766429693 CA945444	1322	M>L		No	ClinGen ExAC TOPMed gnomAD
rs766429693 CA341049121	1322	M>V		No	ClinGen ExAC TOPMed gnomAD
CA341049082 rs1355414264	1324	N>D		No	ClinGen gnomAD
rs768585567 CA945441	1324	N>K		No	ClinGen ExAC gnomAD
rs762665484 CA945440	1325	S>N		No	ClinGen ExAC gnomAD
CA945424 rs750456971	1331	E>D		No	ClinGen ExAC TOPMed gnomAD
rs150756783 CA945423	1332	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA26641747 rs139164398	1332	M>V		No	ClinGen 1000Genomes gnomAD
rs201980911 CA945422	1333	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA341048142 rs1570698496	1334	D>N		No	ClinGen Ensembl
rs749502424 CA26641713	1335	I>V		No	ClinGen Ensembl
CA341048119 rs1395586988	1336	S>T		No	ClinGen gnomAD
rs769759236 CA945420	1338	S>P		No	ClinGen ExAC gnomAD
CA341048053 rs1426377892	1342	M>T		No	ClinGen gnomAD
rs759372572 CA945419	1342	M>V		No	ClinGen ExAC gnomAD
CA26641668 rs112115414	1343	P>L		No	ClinGen Ensembl
rs980029659 CA26641639	1349	S>F		No	ClinGen Ensembl
rs1244638909 CA341047908	1350	M>K		No	ClinGen gnomAD
rs770569328 CA945417	1350	M>V		No	ClinGen ExAC gnomAD
CA945416 rs200535976	1351	T>A		No	ClinGen ExAC TOPMed gnomAD
CA26641609 rs919783140	1353	L>F		No	ClinGen TOPMed gnomAD
rs777271687 CA945415	1354	P>S		No	ClinGen ExAC gnomAD
CA341047770 rs1319966505	1357	A>V		No	ClinGen gnomAD
rs1215299373 CA341047738	1359	N>I		No	ClinGen gnomAD
CA26641592 rs201393479	1360	A>E		No	ClinGen ESP TOPMed gnomAD
CA26641579 rs201393479	1360	A>V		No	ClinGen ESP TOPMed gnomAD
rs1372205773 CA341047707	1362	I>N		No	ClinGen gnomAD
CA945410 rs185069773	1362	I>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1363	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341047617 rs1273319361	1364	H>Y		No	ClinGen TOPMed
CA945390 rs747628741	1366	Q>H		No	ClinGen ExAC gnomAD
rs904090001 CA26641472	1367	E>G		No	ClinGen Ensembl
CA341047532 rs1212369981	1368	R>G		No	ClinGen TOPMed
CA26641466 rs1022906634	1369	K>Q		No	ClinGen TOPMed
CA341047484 rs1447884999	1370	P>R		No	ClinGen TOPMed gnomAD
CA341047470 rs1451575271	1371	Q>H		No	ClinGen TOPMed
rs565616503 CA945389	1372	N>H		No	ClinGen ExAC TOPMed gnomAD
CA341047434 rs1434795518	1375	P>Q		No	ClinGen TOPMed gnomAD
CA341047413 rs749654723	1377	I>F		No	ClinGen ExAC gnomAD
CA945387 rs749654723	1377	I>L		No	ClinGen ExAC gnomAD
rs781238872 CA945383	1381	C>R		No	ClinGen ExAC gnomAD
TCGA novel	1381	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA945382 rs530895801	1384	F>S		No	ClinGen 1000Genomes ExAC gnomAD
CA945381 rs190831701	1385	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA945380 rs765280416	1387	K>E		No	ClinGen ExAC gnomAD
rs759278255	1388	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs759278255	1388	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754896938 CA945378	1391	S>F		No	ClinGen ExAC TOPMed gnomAD
CA341047229 rs1308222128	1393	N>S		No	ClinGen gnomAD
rs1228078708 CA341047215	1394	Y>F		No	ClinGen TOPMed gnomAD
CA341047201 CA945375 rs760369118	1395	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1414881310 CA341047190	1396	K>N		No	ClinGen gnomAD
rs369277085 CA945374	1397	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295994459 CA341047175	1398	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	1398	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA945373 rs767120204	1399	F>C		No	ClinGen ExAC gnomAD
rs761322247 CA945372	1400	F>L		No	ClinGen ExAC TOPMed gnomAD
rs766204131	1400	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs766204131	1401	I>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA945368 rs768147001	1404	S>N		No	ClinGen ExAC gnomAD
rs12733308 CA26641335	1405	E>G		No	ClinGen Ensembl
rs1311538219 CA341047059	1408	K>Q		No	ClinGen TOPMed
rs1434042163 CA341046952	1414	M>V		No	ClinGen gnomAD
CA945353 rs181256367	1415	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA945351 rs763642049	1420	E>D		No	ClinGen ExAC TOPMed gnomAD
CA341046894 rs1205392065	1422	D>N		No	ClinGen Ensembl
TCGA novel	1424	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1471809767 CA341046867	1425	K>E		No	ClinGen TOPMed gnomAD
CA945349 rs762338817	1426	S>A		No	ClinGen ExAC gnomAD
CA341046848 rs376608073	1427	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371512737 CA945347	1428	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484000718 CA341046827	1429	G>E		No	ClinGen TOPMed
rs1190759896 CA341046821	1430	I>V		No	ClinGen gnomAD
TCGA novel	1432	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA945346 rs759959365	1433	G>D		No	ClinGen ExAC TOPMed gnomAD
CA341046779 rs1487727392	1433	G>S		No	ClinGen gnomAD
rs189998243 CA945345	1434	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341046755 rs1218760392	1435	F>L		No	ClinGen gnomAD

1 associated diseases with A2PYH4

[MIM: 615724]: Premature ovarian failure 9 (POF9)

An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000303|PubMed:24597873}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000303|PubMed:24597873}. Note=The disease may be caused by variants affecting the gene represented in this entry.

1 regional properties for A2PYH4

Type	Name	Position	InterPro Accession
domain	Protein HIRA-like, C-terminal	552 - 796	IPR011494

Functions

		Description
EC Number	3.6.4.12	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
DNA helicase activity	Unwinding of a DNA helix, driven by ATP hydrolysis.
nucleic acid binding	Binding to a nucleic acid.

1 GO annotations of biological process

Name	Definition
resolution of meiotic recombination intermediates	The cleavage and rejoining of intermediates, such as Holliday junctions, formed during meiotic recombination to produce two intact molecules in which genetic material has been exchanged.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P51979	HFM1	ATP-dependent DNA helicase MER3	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
B9DFG3	ISE2	DExH-box ATP-dependent RNA helicase DExH15 chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MLKSNDCLFS	LENLFFEKPD	EVENHPDNEK	SLDWFLPPAP	LISEIPDTQE	LEEELESHKL
70	80	90	100	110	120
LGQEKRPKML	TSNLKITNED	TNYISLTQKF	QFAFPSDKYE	QDDLNLEGVG	NNDLSHIAGK
130	140	150	160	170	180
LTYASQKYKN	HIGTEIAPEK	SVPDDTKLVN	FAEDKGESTS	VFRKRLFKIS	DNIHGSAYSN
190	200	210	220	230	240
DNELDSHIGS	VKIVQTEMNK	GKSRNYSNSK	QKFQYSANVF	TANNAFSASE	IGEGMFKAPS
250	260	270	280	290	300
FSVAFQPHDI	QEVTENGLGS	LKAVTEIPAK	FRSIFKEFPY	FNYIQSKAFD	DLLYTDRNFV
310	320	330	340	350	360
ICAPTGSGKT	VVFELAITRL	LMEVPLPWLN	IKIVYMAPIK	ALCSQRFDDW	KEKFGPIGLN
370	380	390	400	410	420
CKELTGDTVM	DDLFEIQHAH	IIMTTPEKWD	SMTRKWRDNS	LVQLVRLFLI	DEVHIVKDEN
430	440	450	460	470	480
RGPTLEVVVS	RMKTVQSVSQ	TLKNTSTAIP	MRFVAVSATI	PNAEDIAEWL	SDGERPAVCL
490	500	510	520	530	540
KMDESHRPVK	LQKVVLGFPC	SSNQTEFKFD	LTLNYKIASV	IQMYSDQKPT	LVFCATRKGV
550	560	570	580	590	600
QQAASVLVKD	AKFIMTVEQK	QRLQKYAYSV	RDSKLRDILK	DGAAYHHAGM	ELSDRKVVEG
610	620	630	640	650	660
AFTVGDLPVL	FTTSTLAMGV	NLPAHLVVIK	STMHYAGGLF	EEYSETDILQ	MIGRAGRPQF
670	680	690	700	710	720
DTTATAVIMT	RLSTRDKYIQ	MLACRDTVES	SLHRHLIEHL	NAEIVLHTIT	DVNIAVEWIR
730	740	750	760	770	780
STLLYIRALK	NPSHYGFASG	LNKDGIEAKL	QELCLKNLND	LSSLDLIKMD	EGVNFKPTEA
790	800	810	820	830	840
GRLMAWYYIT	FETVKKFYTI	SGKETLSDLV	TLIAGCKEFL	DIQLRINEKK	TLNTLNKDPN
850	860	870	880	890	900
RITIRFPMEG	RIKTREMKVN	CLIQAQLGCI	PIQDFALTQD	TAKIFRHGSR	ITRWLSDFVA
910	920	930	940	950	960
AQEKKFAVLL	NSLILAKCFR	CKLWENSLHV	SKQLEKIGIT	LSNAIVNAGL	TSFKKIEETD
970	980	990	1000	1010	1020
ARELELILNR	HPPFGTQIKE	TVMYLPKYEL	KVEQITRYSD	TTAEILVTVI	LRNFEQLQTK
1030	1040	1050	1060	1070	1080
RTASDSHYVT	LIIGDADNQV	VYLHKITDSV	LLKAGSWAKK	IAVKRALKSE	DLSINLISSE
1090	1100	1110	1120	1130	1140
FVGLDIQQKL	TVFYLEPKRF	GNQITMQRKS	ETQISHSKHS	DISTIAGPNK	GTTASKKPGN
1150	1160	1170	1180	1190	1200
RECNHLCKSK	HTCGHDCCKI	GVAQKSEIKE	STISSYLSDL	RNRNAVSSVP	PVKRLKIQMN
1210	1220	1230	1240	1250	1260
KSQSVDLKEF	GFTPKPSLPS	ISRSEYLNIS	ELPIMEQWDQ	PEIYGKVRQE	PSEYQDKEVL
1270	1280	1290	1300	1310	1320
NVNFELGNEV	WDDFDDENLE	VTSFSTDTEK	TKISGFGNTL	SSSTRGSKLP	LQESKSKFQR
1330	1340	1350	1360	1370	1380
EMSNSFVSSH	EMSDISLSNS	AMPKFSASSM	TKLPQQAGNA	VIVHFQERKP	QNLSPEIEKQ
1390	1400	1410	1420	1430
CFTFSEKNPN	SSNYKKVDFF	IRNSECKKEV	DFSMYHPDDE	ADEMKSLLGI	FDGIF