AiPD: Autoinhibited Protein Database

Q8IY37

Gene name	DHX37 (DDX37, KIAA1517)
Protein name	Probable ATP-dependent RNA helicase DHX37
Names	DEAH box protein 37
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57647
EC number	3.6.4.13: 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)

80-151 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

80-151 (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

2 structures for Q8IY37

Entry ID	Method	Resolution	Chain	Position	Source
7MQA	EM	270 A	NS	1-1157	PDB
AF-Q8IY37-F1	Predicted				AlphaFoldDB

969 variants for Q8IY37

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000991236 RCV000853098 COSM203017 VAR_083628 RCV001261670 rs575837056 CA6872488	93	R>Q	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies Intellectual disability large_intestine NEDBAVC; unknown pathological significance [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_083629	167	E>S	NEDBAVC; unknown pathological significance; requires 2 nucleotide substitutions [UniProt]	Yes	UniProt
VAR_083630 rs1954619788 RCV001089509	304	T>M	Testicular regression syndrome SRXY11 [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
VAR_083631 RCV002250725 RCV001840781 RCV001089510 rs1384892917 CA387226934	308	R>Q	Testicular regression syndrome 46,XY sex reversal 11 SRXY11 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs112262509 CA6872249 RCV001331507 RCV002272450	329	V>I	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_083632	334	R>L	SRXY11; unknown pathological significance [UniProt]	Yes	UniProt
VAR_083633	334	R>W	SRXY11; unknown pathological significance [UniProt]	Yes	UniProt
VAR_083634 RCV001261672 rs1424699115 CA387226437 RCV000853100	382	D>G	Coloboma of optic nerve NEDBAVC; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000454218 VAR_083635 RCV000853095 RCV000991233 rs1060499737 CA16609526 RCV001261667	419	N>K	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies Intellectual disability NEDBAVC; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_083636 RCV001261668 RCV001532726 CA6872053 RCV000853096 rs149331610	467	L>V	Intellectual disability NEDBAVC; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_083637 CA6872021 RCV002289582 RCV000454335 rs779613772	487	R>H	46,XY sex reversal 11 NEDBAVC; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_083638 RCV001089512 rs1954346640	595	S>F	Testicular regression syndrome SRXY11 [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
VAR_083639	626	S>L	SRXY11; unknown pathological significance [UniProt]	Yes	UniProt
rs1954336215 RCV001089513 VAR_083640	674	R>Q	Testicular regression syndrome SRXY11 [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
RCV001089511 VAR_083641 RCV001843561 rs1954336272	674	R>W	Testicular regression syndrome 46,XY sex reversal 11 SRXY11 [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
RCV001261669 RCV000853097 VAR_083642 CA6871719 rs754186165 RCV000991235	731	V>M	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies Intellectual disability Variant assessed as Somatic; 0.0 impact. NEDBAVC; unknown pathological significance [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA245248550 RCV001331505 RCV002546486 rs111456585	986	V>M	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs754141645 CA6871370 VAR_083643	1030	G>E	SRXY11; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1277857720 CA387216658 RCV000853101 VAR_083644 RCV001261673	1094	T>M	Intellectual disability NEDBAVC; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs200165099 RCV001331506 CA6871254 RCV002546487	1101	R>H	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA245287691 CA6872582 rs764064496	2	G>R		No	ClinGen ExAC TOPMed gnomAD
CA387228934 rs1222178988	5	R>C		No	ClinGen TOPMed
rs775521507 CA6872580	7	R>P		No	ClinGen ExAC gnomAD
CA387228917 rs1176015762	8	Y>H		No	ClinGen gnomAD
rs769656413 CA6872579	9	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	13	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759290130 CA6872578	13	R>S		No	ClinGen ExAC TOPMed gnomAD
CA387228858 rs770905477	16	A>E		No	ClinGen ExAC TOPMed gnomAD
CA6872576 rs770905477	16	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6872575 rs746936106	18	P>L		No	ClinGen ExAC gnomAD
CA387228838 rs1176146285	20	P>A		No	ClinGen TOPMed
rs747848684 CA245287634	24	P>L		No	ClinGen ExAC gnomAD
rs747848684 CA6872572	24	P>R		No	ClinGen ExAC gnomAD
rs771416866 CA6872573	24	P>S		No	ClinGen ExAC TOPMed gnomAD
rs771416866 CA245287649	24	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1470698098 CA387228806	25	P>L		No	ClinGen gnomAD
rs778379260 CA387228797	26	E>D		No	ClinGen ExAC TOPMed gnomAD
rs781670352 CA6872567	27	P>L		No	ClinGen ExAC gnomAD
rs781670352 CA6872568	27	P>Q		No	ClinGen ExAC gnomAD
rs756575605 CA6872569	27	P>S		No	ClinGen ExAC gnomAD
rs1212516440 CA387228785	29	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs371875679 CA6872565	30	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371875679 CA245287583	30	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764252416 CA6872564	31	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs762896884 CA6872563	34	L>P		No	ClinGen ExAC gnomAD
rs752998718 CA6872562	35	E>D		No	ClinGen ExAC gnomAD
CA387228728 rs1565896346	36	D>E		No	ClinGen Ensembl
rs765485818 CA6872561	36	D>N		No	ClinGen ExAC TOPMed gnomAD
rs116497060 CA245286336	38	D>E		No	ClinGen 1000Genomes
rs747577435 CA6872546	38	D>H		No	ClinGen ExAC gnomAD
rs143890296 CA6872545	39	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387228683 rs1296799379	43	V>A		No	ClinGen gnomAD
CA6872542 rs765288962	43	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6872541 rs755260636	44	D>G		No	ClinGen ExAC gnomAD
rs1404413126 CA387228670	45	A>G		No	ClinGen TOPMed gnomAD
rs753993633 CA6872540	46	S>T		No	ClinGen ExAC gnomAD
rs78936225 CA6872538	48	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs541598021 CA6872537	48	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774059913 CA6872535	49	L>I		No	ClinGen ExAC gnomAD
rs774059913 CA6872534	49	L>V		No	ClinGen ExAC gnomAD
CA387228641 rs1485893358	50	V>A		No	ClinGen gnomAD
CA387228645 rs1212804180	50	V>I		No	ClinGen TOPMed gnomAD
CA245286277 rs529499939	52	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
TCGA novel	54	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387228619 rs1309118791	54	K>R		No	ClinGen TOPMed gnomAD
CA387228578 rs1297900998	59	T>I		No	ClinGen gnomAD
rs1594516675 CA387228583	59	T>P		No	ClinGen Ensembl
rs1297900998 CA387228579	59	T>S		No	ClinGen gnomAD
rs187998730 RCV000889513 CA6872530	61	A>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA387228554 rs1253674272	63	P>R		No	ClinGen TOPMed
CA6872529 rs747375904	64	L>V		No	ClinGen ExAC gnomAD
rs1033262608 COSM167295 CA245286266	65	S>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA387228547 rs1416814314	65	S>P		No	ClinGen gnomAD
CA387228544 rs1033262608	65	S>W		No	ClinGen gnomAD
CA387228510 rs1565896178	70	K>E		No	ClinGen Ensembl
CA387228500 rs1170590098	71	P>R		No	ClinGen TOPMed gnomAD
rs919220706 CA245286248	71	P>S		No	ClinGen TOPMed
rs1427375989 CA387228485	74	K>E		No	ClinGen gnomAD
rs748686865 CA6872525	75	K>Q		No	ClinGen ExAC gnomAD
rs778969337 CA6872524	76	E>G		No	ClinGen ExAC TOPMed gnomAD
CA245286241 rs377538231	77	K>N		No	ClinGen ESP TOPMed gnomAD
rs1242352045 CA387228448	79	V>L		No	ClinGen TOPMed gnomAD
rs1251796776 CA387228437	81	Q>*		No	ClinGen gnomAD
rs1414468199 CA387228435	81	Q>R		No	ClinGen TOPMed
CA387228408 rs1594516505	85	E>Q		No	ClinGen Ensembl
CA6872521 rs766548028	86	Q>R		No	ClinGen ExAC gnomAD
rs1235387927 CA387228393	87	K>E		No	ClinGen gnomAD
CA387228388 rs1356330145	87	K>N		No	ClinGen gnomAD
CA6872519 rs374398378	89	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376214605 CA387228362	91	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	91	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs11558556 VAR_061826 CA245284388 CA6872486	96	M>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs769198286 CA6872487	96	M>V		No	ClinGen ExAC gnomAD
CA6872484 rs769843475	99	K>R		No	ClinGen ExAC gnomAD
rs781422423 CA6872482	100	L>V		No	ClinGen ExAC gnomAD
rs757394335 CA6872481	101	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	104	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6872479 rs372216152	104	Q>R		No	ClinGen ESP ExAC gnomAD
CA387228258 rs758478303	105	A>P		No	ClinGen ExAC gnomAD
CA6872478 rs758478303	105	A>S		No	ClinGen ExAC gnomAD
CA387228255 rs1396615441	105	A>V		No	ClinGen gnomAD
CA6872477 rs116628829	107	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764667952 CA6872476	108	A>S		No	ClinGen ExAC gnomAD
CA387228236 COSM336016 rs1250285952	109	E>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1196838996 CA387228227	110	M>V		No	ClinGen gnomAD
rs1262669464 CA387228197	114	Y>H		No	ClinGen gnomAD
rs7314481 CA245284349	115	T>A		No	ClinGen Ensembl
rs1216396321 CA387228187	115	T>S		No	ClinGen TOPMed gnomAD
rs753462646 CA6872474	118	K>E		No	ClinGen ExAC gnomAD
rs924075043 CA245284343	118	K>R		No	ClinGen TOPMed gnomAD
rs759402201 CA6872473	123	N>K		No	ClinGen ExAC gnomAD
rs760296176 CA6872472	124	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM459617 rs1594512477 CA387228135	124	R>H	cervix [Cosmic]	No	ClinGen cosmic curated Ensembl
CA387228132 CA6872470 rs764435361	125	M>L		No	ClinGen ExAC gnomAD
rs764435361 CA6872471	125	M>V		No	ClinGen ExAC gnomAD
rs776003583 CA6872468	126	Y>C		No	ClinGen ExAC gnomAD
CA6872469 rs763452510	126	Y>H		No	ClinGen ExAC gnomAD
CA387228116 COSM3935824 rs1397694958	127	H>R	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6872467 rs769782660	127	H>Y		No	ClinGen ExAC gnomAD
rs1377058810 CA387228111	128	T>A		No	ClinGen gnomAD
CA387228098 rs1170858235	130	E>Q		No	ClinGen TOPMed
rs764453918 CA6872453	131	K>M		No	ClinGen ExAC gnomAD
rs867661673 CA245279394	131	K>N		No	ClinGen Ensembl
CA387228060 rs1236036995	133	D>E		No	ClinGen TOPMed gnomAD
CA245279390 rs987025660	133	D>G		No	ClinGen Ensembl
CA245279388 rs865910000	134	E>*		No	ClinGen TOPMed gnomAD
CA245279389 rs865910000	134	E>K		No	ClinGen TOPMed gnomAD
CA387228052 rs1438829686	135	V>L		No	ClinGen gnomAD
rs187177321 CA387228041	137	A>P		No	ClinGen 1000Genomes gnomAD
rs187177321 CA245279384	137	A>T		No	ClinGen 1000Genomes gnomAD
CA6872451 rs770456410	138	P>L		No	ClinGen ExAC TOPMed gnomAD
CA387228027 rs1354022799	139	G>D		No	ClinGen gnomAD
CA245279374 rs868125664	140	Q>*		No	ClinGen Ensembl
CA387228021 rs1281017681	140	Q>L		No	ClinGen gnomAD
CA387228018 rs1594510569	141	E>K		No	ClinGen Ensembl
CA387227964 rs1444611679	148	G>S		No	ClinGen TOPMed gnomAD
rs962317321 CA245279361	149	A>V		No	ClinGen Ensembl
CA387227948 rs1480444526	150	H>Q		No	ClinGen TOPMed
rs776845826 CA6872446	150	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6872444 rs773520800	151	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6872445 rs577400960	151	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387227943 rs1412080419	152	K>E		No	ClinGen gnomAD
rs1412080419 CA387227944	152	K>Q		No	ClinGen gnomAD
rs772025106 CA6872443	153	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1440910020 CA387227935	153	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs772025106 CA245279339	153	R>S		No	ClinGen ExAC TOPMed gnomAD
CA387227930 rs1380202342	154	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs747449936 CA6872442	154	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1253029388 CA387227925	155	R>C		No	ClinGen gnomAD
rs982968240 CA245279319	155	R>H		No	ClinGen TOPMed gnomAD
CA387227916 rs1449452085	156	W>*		No	ClinGen gnomAD
rs1285267531 CA387227899	159	A>T		No	ClinGen TOPMed
CA6872441 rs778548863	161	E>G		No	ClinGen ExAC TOPMed gnomAD
rs552765231 CA245279316 COSM692385	161	E>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD
CA6872439 rs749176798	162	E>G		No	ClinGen ExAC gnomAD
TCGA novel	163	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387227866 rs1232781732	164	E>*		No	ClinGen TOPMed
CA245279303 rs953711068	164	E>A		No	ClinGen TOPMed
CA6872437 rs750096358	166	E>*		No	ClinGen ExAC gnomAD
rs780779636 CA6872435	166	E>A		No	ClinGen ExAC gnomAD
rs750096358 CA6872436	166	E>Q		No	ClinGen ExAC gnomAD
CA245279282 rs1024584332	167	E>*		No	ClinGen TOPMed
CA245279279 rs1013499537	167	E>A		No	ClinGen TOPMed gnomAD
CA387227836 rs1157407897	168	E>G		No	ClinGen gnomAD
rs149384016 CA387227829	169	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387227832 rs1374590775	169	S>A		No	ClinGen TOPMed
rs149384016 CA6872428 RCV000949790	169	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA387227827 rs1190120759	170	E>K		No	ClinGen gnomAD
rs1365519890 CA387227822	170	E>V		No	ClinGen TOPMed
rs765519542 CA6872426	171	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6872424 rs754242132	172	E>V		No	ClinGen ExAC gnomAD
rs766588582 CA6872423	174	E>K		No	ClinGen ExAC gnomAD
CA6872420 rs772470904	177	S>L		No	ClinGen ExAC TOPMed gnomAD
CA6872421 rs772470904	177	S>W		No	ClinGen ExAC TOPMed gnomAD
CA387227775 rs1218697122	178	E>Q		No	ClinGen gnomAD
rs1328411406 CA387227767	179	L>M		No	ClinGen TOPMed
CA6872416 COSM1318038 rs78350183	180	D>E	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA387227762 rs1400787028	180	D>N		No	ClinGen gnomAD
rs1296666689 CA387227755	181	E>K		No	ClinGen TOPMed gnomAD
rs1594510219 CA387227744	182	D>A		No	ClinGen Ensembl
CA387227734 rs1437199737	183	P>L		No	ClinGen gnomAD
CA387227730 rs1360241422	184	A>G		No	ClinGen gnomAD
CA387227728 rs1360241422	184	A>V		No	ClinGen gnomAD
rs779914181 CA6872415	185	A>G		No	ClinGen ExAC gnomAD
CA387227722 rs1360848921	186	E>K		No	ClinGen TOPMed
CA6872414 rs769322775	187	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1487833808 CA387227695	190	A>T		No	ClinGen TOPMed
rs757004022 CA6872411	190	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6872407 rs754428941	192	V>G		No	ClinGen ExAC gnomAD
rs755250640 CA6872408	192	V>M		No	ClinGen ExAC gnomAD
rs1447282841 CA387227679	193	G>R		No	ClinGen TOPMed
CA387227673 rs1594510116	194	T>A		No	ClinGen Ensembl
rs904423870 CA245279170	195	T>A		No	ClinGen TOPMed
TCGA novel	195	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387227661 rs1310540632	196	V>M		No	ClinGen TOPMed gnomAD
rs1242152918 CA387227646	198	P>R		No	ClinGen gnomAD
CA6872404 rs569712705	200	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767701245 CA6872403	201	P>R		No	ClinGen ExAC gnomAD
CA387227629 rs1387465047	202	A>P		No	ClinGen TOPMed
CA387227630 rs1387465047	202	A>T		No	ClinGen TOPMed
CA6872402 rs762098824	203	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1302795022 CA387227597	207	S>C		No	ClinGen gnomAD
rs115463114 CA245279135	209	P>T		No	ClinGen 1000Genomes gnomAD
rs201247300 CA6872398	210	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs201747826 CA6872397	211	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	212	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6872394 rs770292827	213	G>E		No	ClinGen ExAC gnomAD
rs770292827 CA387227558	213	G>V		No	ClinGen ExAC gnomAD
rs746698210 CA387227556	214	M>L		No	ClinGen ExAC TOPMed gnomAD
rs746698210 CA6872393	214	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6872392 rs564035583	217	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1199338619 CA387227521	219	P>L		No	ClinGen gnomAD
CA6872389 rs370692870	220	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA387227517 rs1235329730	220	P>L		No	ClinGen gnomAD
CA6872388 rs370692870	220	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000957151 rs75990925 CA6872386	222	A>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767648611 CA6872385	223	A>T		No	ClinGen ExAC gnomAD
rs1376147684 CA387227499	224	P>A		No	ClinGen gnomAD
TCGA novel	225	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1179886737 CA387227481	227	P>S		No	ClinGen TOPMed
rs529321042 CA6872384	228	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs751834414 CA387227473	228	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1397448314 CA387227471	229	A>T		No	ClinGen gnomAD
CA387227453 rs1458035569	232	K>E		No	ClinGen gnomAD
CA6872381 rs763137447	233	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6872378 rs140803050	234	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1359958 CA6872377 rs140803050	234	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6872375 rs373907134	235	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs747796754 CA6872372	238	P>L		No	ClinGen ExAC gnomAD
rs1301456523 CA387227415	238	P>S		No	ClinGen TOPMed
rs370509819 CA6872370	239	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387227395 rs1219786648	241	R>H		No	ClinGen gnomAD
rs1219786648 CA387227396	241	R>L		No	ClinGen gnomAD
rs1356530272 CA387227388	242	S>F		No	ClinGen gnomAD
rs1470134898 CA387227393	242	S>T		No	ClinGen gnomAD
rs140263914 CA6872368	243	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140263914 CA6872369	243	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	243	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1374021221 CA387227374	245	M>V		No	ClinGen gnomAD
rs374667199 CA6872366	246	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA387227362 rs1387049932	246	Q>L		No	ClinGen gnomAD
rs771396530 CA6872348	248	E>K		No	ClinGen ExAC gnomAD
COSM304269 CA6872347 rs747487040	249	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA387227303 rs779145958	254	I>L		No	ClinGen ExAC TOPMed gnomAD
CA6872343 rs779145958	254	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	255	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387227283 rs1487616252	257	E>K		No	ClinGen TOPMed gnomAD
rs573335085 CA6872341	260	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760532702 CA6872339	261	I>M		No	ClinGen ExAC gnomAD
rs987172120 CA245277381	262	M>I		No	ClinGen TOPMed
CA6872338 rs750316270	265	V>A		No	ClinGen ExAC gnomAD
rs1253670476 COSM1299105 CA387227228	265	V>M	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA245277371 rs1036556715	266	A>S		No	ClinGen TOPMed gnomAD
CA387227223 rs1036556715	266	A>T		No	ClinGen TOPMed gnomAD
CA6872335 rs33931896	267	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs33931896 CA245277362	267	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387227210 rs1594506510	268	H>P		No	ClinGen Ensembl
CA6872334 rs768470223	268	H>Y		No	ClinGen ExAC gnomAD
rs762650883 CA387227198	270	I>F		No	ClinGen ExAC TOPMed gnomAD
CA6872333 rs762650883	270	I>V		No	ClinGen ExAC TOPMed gnomAD
rs369512259 CA6872331	271	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376228891 CA6872329	273	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1470244684 CA387227156	276	E>D		No	ClinGen TOPMed
CA245277339 rs969314622	278	G>S		No	ClinGen TOPMed
CA387227128 rs1594506455	281	K>E		No	ClinGen Ensembl
rs866900430 CA245277332	284	Q>H		No	ClinGen Ensembl
CA387227101 rs575811691	285	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6872325 rs575811691	285	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1165363366 CA387227065	290	Y>C		No	ClinGen Ensembl
rs754023029 CA6872324	292	A>T		No	ClinGen ExAC gnomAD
CA387227048 rs1416968652	293	G>S		No	ClinGen TOPMed
CA387227031 rs1199952530	295	S>N		No	ClinGen gnomAD
CA387227003 rs1174255583	297	E>A		No	ClinGen TOPMed
CA6872300 rs751487346	297	E>Q		No	ClinGen ExAC gnomAD
CA245275931 rs745467067	298	D>G		No	ClinGen Ensembl
CA6872299 rs763722394	298	D>N		No	ClinGen ExAC gnomAD
rs759097408 CA6872295	302	G>A		No	ClinGen ExAC TOPMed gnomAD
rs369888049 CA387226970	302	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs369888049 CA6872296	302	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1246902794 CA387226964	303	V>F		No	ClinGen gnomAD
rs1287807287 CA387226945	306	P>A		No	ClinGen gnomAD
CA387226944 rs1287807287	306	P>S		No	ClinGen gnomAD
rs1029574157 CA245275877	307	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs920938198 CA245275873	307	R>H		No	ClinGen TOPMed gnomAD
CA387226920 rs1285455018	310	A>V		No	ClinGen gnomAD
CA6872291 rs201177773	311	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1275700297 CA387226915	311	A>V		No	ClinGen gnomAD
CA6872288 rs775407067	312	V>G		No	ClinGen ExAC gnomAD
CA387226914 rs200112553 CA6872290	312	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200112553 CA6872289	312	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6872287 rs770109175	313	A>V		No	ClinGen ExAC gnomAD
TCGA novel	314	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387226903 rs1156376706	314	M>T		No	ClinGen gnomAD
rs746081345 CA6872286	314	M>V		No	ClinGen ExAC gnomAD
CA6872285 rs554301251	317	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA387226875 rs1594503553	318	V>G		No	ClinGen Ensembl
CA6872283 rs746977756	319	A>T		No	ClinGen ExAC TOPMed gnomAD
rs777901080 CA6872282	319	A>V		No	ClinGen ExAC TOPMed gnomAD
rs758251234 CA6872281	320	K>T		No	ClinGen ExAC gnomAD
rs764649813 CA6872279	323	N>K		No	ClinGen ExAC TOPMed gnomAD
rs754664449 CA6872278	324	L>M		No	ClinGen ExAC gnomAD
CA245275801 rs1013967696	325	S>F		No	ClinGen Ensembl
CA6872274 rs535668741	327	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6872275 rs368318256	327	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs958311548 CA245273558	332	Q>H		No	ClinGen Ensembl
rs995745981 CA245273564	332	Q>R		No	ClinGen TOPMed gnomAD
rs1032455385 CA245273553	335	Y>H		No	ClinGen TOPMed
TCGA novel	335	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6872247 rs771709192	336	E>K		No	ClinGen ExAC gnomAD
rs1039995438 CA245273532	339	V>A		No	ClinGen TOPMed
CA387226736 rs778673475	339	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6872245 rs778673475	339	V>M		No	ClinGen ExAC TOPMed gnomAD
CA387226726 rs1250041457	341	E>Q		No	ClinGen gnomAD
CA387226722 rs1426013304	341	E>V		No	ClinGen gnomAD
CA6872242 rs779525652	344	R>T		No	ClinGen ExAC gnomAD
rs1190819175 CA387226671	348	M>I		No	ClinGen TOPMed
CA6872240 rs370175907	348	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA387226663 rs1241271677	349	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs753076552 CA6872237	354	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1364789545 CA387226626	355	K>N		No	ClinGen gnomAD
CA6872236 rs377745670	356	E>D		No	ClinGen ESP ExAC gnomAD
rs1458239259 CA387226603	358	Q>H		No	ClinGen gnomAD
CA387226606 rs1420132326	358	Q>R		No	ClinGen TOPMed
rs755528518 CA6872235	359	K>E		No	ClinGen ExAC gnomAD
rs1459880688 CA387226600	359	K>R		No	ClinGen TOPMed
CA6872211 rs767678085	360	D>G		No	ClinGen ExAC TOPMed gnomAD
rs150066589 CA6872210	364	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs774081132 CA6872209	364	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6872208 rs369260098	365	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1257183452 CA387226554	365	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1281184993 CA387226542	367	K>E		No	ClinGen gnomAD
rs775355315 CA6872207	367	K>N		No	ClinGen ExAC gnomAD
CA387226530 rs1033470433	369	V>L		No	ClinGen TOPMed
CA245272827 rs1033470433	369	V>M		No	ClinGen TOPMed
rs139345740 CA6872203	373	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA387226468 rs1466780533	377	R>S		No	ClinGen gnomAD
rs779437822 CA387226458	379	V>L		No	ClinGen ExAC TOPMed gnomAD
rs779437822 CA6872200	379	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375865870 CA6872199	381	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6872197 rs749051651	384	L>V		No	ClinGen ExAC TOPMed gnomAD
rs780020505 CA6872194	386	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1220023636 CA387226390	390	R>C		No	ClinGen gnomAD
rs1318354563 CA387226387	390	R>H		No	ClinGen gnomAD
CA387226388 rs1318354563	390	R>L		No	ClinGen gnomAD
rs757425201 CA6872193	391	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1225242177 CA387226370	393	T>S		No	ClinGen gnomAD
rs751721662 CA6872192	394	L>F		No	ClinGen ExAC gnomAD
rs1453502937 CA387226361	395	R>Q		No	ClinGen TOPMed gnomAD
CA6872191 rs200635901	395	R>W		No	ClinGen ExAC gnomAD
rs372317287 CA6872145	399	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs750017412 CA6872146	399	N>T		No	ClinGen ExAC gnomAD
CA387226313 rs1156456786	401	P>S		No	ClinGen gnomAD
CA6872143 rs774005148	403	K>Q		No	ClinGen ExAC gnomAD
CA6872142 rs765550078	403	K>R		No	ClinGen ExAC gnomAD
CA6872139 rs771496307	408	S>*		No	ClinGen ExAC gnomAD
rs368046437 CA387226246	412	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs368046437 CA6872136	412	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6872134 rs779239033	413	V>A		No	ClinGen ExAC gnomAD
rs779239033 CA387226241	413	V>G		No	ClinGen ExAC gnomAD
CA6872135 rs748405438	413	V>M		No	ClinGen ExAC
CA387226226 rs1343984768	415	D>E		No	ClinGen gnomAD
rs1488748402 CA387226211	417	T>I		No	ClinGen TOPMed
rs1594494555 CA387226199	419	N>T		No	ClinGen Ensembl
rs1432038825 CA387226188	421	R>Q		No	ClinGen gnomAD
rs543035575 CA6872131	421	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs945659105 CA245270981	422	L>P		No	ClinGen TOPMed
rs114271603 CA6872128	424	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6872127 rs201552563	426	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387226156 rs201552563	426	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6872125 rs114690825	427	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766672697 CA6872122	428	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1241640478 CA387226144	429	V>F		No	ClinGen gnomAD
CA387226139 rs1594494448	429	V>G		No	ClinGen Ensembl
rs772541446 CA6872119	430	I>F		No	ClinGen ExAC TOPMed gnomAD
CA6872120 rs772541446	430	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1264024376 CA387226128	431	K>N		No	ClinGen TOPMed gnomAD
rs201628977 CA6872118	431	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387226103 rs1288872730	433	E>G		No	ClinGen TOPMed
rs1243173597 CA387226083	436	Q>P		No	ClinGen gnomAD
rs1566340777	439	V>MLAGLVSNS*		No	Ensembl
rs1205309273 CA387226054	440	T>S		No	ClinGen TOPMed
rs776582648 CA6872071	441	V>A		No	ClinGen ExAC gnomAD
CA6872070 rs770582946	442	H>R		No	ClinGen ExAC TOPMed gnomAD
rs973733597 CA245270604	446	R>Q		No	ClinGen TOPMed gnomAD
rs746999203 CA6872069	446	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6872067 rs772028476	448	P>L		No	ClinGen ExAC TOPMed gnomAD
CA387226007 rs1363738009	448	P>T		No	ClinGen TOPMed
CA6872064 rs754626125	449	L>R		No	ClinGen ExAC gnomAD
CA6872062 rs781633830	452	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs748879656 CA6872063	452	Y>H		No	ClinGen ExAC gnomAD
CA387225972 rs897978682	453	S>I		No	ClinGen gnomAD
rs897978682 CA245270573	453	S>N		No	ClinGen gnomAD
rs1202015691 CA387225966	454	G>D		No	ClinGen gnomAD
rs1220822697 CA387225957	455	E>D		No	ClinGen TOPMed gnomAD
rs1268839355 CA387225961	455	E>K		No	ClinGen TOPMed gnomAD
CA387225952 rs1358059862	456	C>Y		No	ClinGen TOPMed
VAR_052185 rs11057939 CA6872059	458	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6872060 rs530897876	458	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752889788 CA6872057	459	K>T		No	ClinGen ExAC gnomAD
CA387225924 rs1594493783	460	V>G		No	ClinGen Ensembl
CA387225911 rs1248750861	462	K>R		No	ClinGen gnomAD
rs1009655253 CA245270560	463	I>M		No	ClinGen TOPMed
rs143588731 CA6872055	465	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs138311838 CA6872056	465	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs138583236 CA6872049	469	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs138583236 CA6872051	469	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs138583236 CA6872050	469	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183880675 CA387225845	471	G>V		No	ClinGen gnomAD
rs1197363065 CA387225828	474	V>A		No	ClinGen gnomAD
CA6872028 rs762497882	474	V>M		No	ClinGen ExAC gnomAD
CA245269524 rs903747790	479	Q>H		No	ClinGen TOPMed
CA387225767 rs374212135	483	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA387225774 rs1363194643	483	H>Y		No	ClinGen gnomAD
TCGA novel	484	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6872024 rs150152903	484	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387225746 rs1393529531	487	R>C		No	ClinGen TOPMed gnomAD
rs369510919 CA6872020	488	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA387225736 rs1460906071	489	L>V		No	ClinGen gnomAD
CA245269495 rs1056553342	492	A>P		No	ClinGen TOPMed
rs1056553342 CA387225715	492	A>S		No	ClinGen TOPMed
rs974135467 CA245269491	495	P>T		No	ClinGen TOPMed
CA245269482 rs753934648	496	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1443680716 CA387225689	496	S>F		No	ClinGen gnomAD
CA6872019 rs753934648	496	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1240924120 CA387225684	497	R>I		No	ClinGen gnomAD
CA6872017 rs141011175	499	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6872018 rs780118795	499	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1249542774 CA387225662	501	Q>P		No	ClinGen gnomAD
rs750605552 CA6872016	502	E>K		No	ClinGen ExAC gnomAD
CA387225642 rs1456062679	502	E>V		No	ClinGen TOPMed
rs776268983 CA6871989	504	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1319340920 CA387225631	504	D>N		No	ClinGen TOPMed
rs367809292 CA6871987	505	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146441373 CA6871985	506	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000965254 CA6871984 rs35165507 VAR_052186 CA6871983	508	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP
CA6871982 rs778888380	510	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1594491442 CA387225582	511	V>L		No	ClinGen Ensembl
rs747176560 CA6871978	513	E>A		No	ClinGen ExAC gnomAD
rs757473315 CA6871979	513	E>K		No	ClinGen ExAC gnomAD
rs758254154 CA6871976	515	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs777566282 CA6871977	515	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752413620 CA6871975	516	K>R		No	ClinGen ExAC gnomAD
CA6871973 rs754869814	519	K>N		No	ClinGen ExAC TOPMed gnomAD
CA6871974 rs375453027	519	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	520	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254338077 CA387225514	521	R>T		No	ClinGen TOPMed
rs1272385141 CA387225509	522	A>T		No	ClinGen TOPMed gnomAD
CA245269202 rs997024406	522	A>V		No	ClinGen Ensembl
rs1430868801 CA387225504	523	R>G		No	ClinGen gnomAD
rs1325280757 CA387225501	523	R>T		No	ClinGen gnomAD
TCGA novel	524	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266594241 CA387225497	524	A>T		No	ClinGen gnomAD
rs1318138261 CA387225481	526	K>E		No	ClinGen gnomAD
CA6871972 rs753406000	526	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6871971 rs765933453	527	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs146673011 CA6871966	528	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6871967 rs140218998 COSM936798	528	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6871965 rs142965739	529	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387225466 rs1374488715	529	A>V		No	ClinGen TOPMed
rs1313928359 CA387225441	531	V>L		No	ClinGen gnomAD
CA6871936 rs756105103	532	L>M		No	ClinGen ExAC gnomAD
CA6871935 rs750017485	533	P>S		No	ClinGen ExAC gnomAD
rs1368659716 CA387225418	535	I>F		No	ClinGen gnomAD
CA387225401 rs892426049 CA245268607	537	L>F		No	ClinGen TOPMed gnomAD
rs751123088 CA6871932	537	L>V		No	ClinGen ExAC TOPMed gnomAD
rs765664763 CA6871931	538	D>H		No	ClinGen ExAC gnomAD
CA387225392 rs1229464507	539	H>D		No	ClinGen TOPMed
CA6871930 rs759944186	541	S>L		No	ClinGen ExAC gnomAD
CA387225372 rs1306181078	542	V>M		No	ClinGen TOPMed
CA6871927 rs148596974	544	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766940424 CA6871928	544	P>S		No	ClinGen ExAC TOPMed gnomAD
CA245268576 rs1039845064	545	A>T		No	ClinGen TOPMed
rs1464934219 CA387225345	546	G>V		No	ClinGen TOPMed
rs1218983815 CA387225338 CA387225339	547	E>D		No	ClinGen gnomAD
rs1230088831 CA387225340	547	E>G		No	ClinGen Ensembl
COSM212206 rs369885446 CA6871924	547	E>K	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs774480456 CA6871923	548	G>R		No	ClinGen ExAC gnomAD
CA6871921 rs749149527	549	D>N		No	ClinGen ExAC TOPMed gnomAD
CA387225322 rs1566337482	550	E>*		No	ClinGen Ensembl
rs1285135119 CA387225306	552	R>G		No	ClinGen gnomAD
CA6871920 rs779988261	554	A>T		No	ClinGen ExAC gnomAD
CA387225246 rs1419963552	559	E>K		No	ClinGen TOPMed
CA6871918 rs745740163	560	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	562	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs930190072 CA245268541	563	L>P		No	ClinGen gnomAD
CA6871917 rs549815821	564	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA6871915 rs114167123	566	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1481032140 CA387225172	568	D>N	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs373991457 CA6871912	569	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	570	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6871911 rs766674720	571	L>V		No	ClinGen ExAC gnomAD
rs116097784 CA6871910	572	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750858859 CA6871909	573	D>V		No	ClinGen ExAC gnomAD
rs761844194 CA6871907	575	G>R		No	ClinGen ExAC gnomAD
rs1264762722 CA387225109	576	Q>E		No	ClinGen gnomAD
CA6871905 rs764474876	577	D>E		No	ClinGen ExAC gnomAD
rs200283884 CA6871906	577	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs763199314 CA6871904	578	G>E		No	ClinGen ExAC gnomAD
CA245265514 rs757544001	580	E>G		No	ClinGen TOPMed gnomAD
rs759298182 COSM325148 CA6871883	580	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA387225058 rs1393692039	581	Q>*		No	ClinGen gnomAD
rs140932947 CA6871880	582	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770779242 CA6871881	582	P>S		No	ClinGen ExAC gnomAD
CA387225044 rs1483038765 COSM1511276	583	D>N	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6871878 rs771533079	584	A>T		No	ClinGen ExAC gnomAD
rs747628991 CA6871877	584	A>V		No	ClinGen ExAC TOPMed gnomAD
rs140871191 COSM107984 CA245265444	585	S>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs778589419 CA6871876	587	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6871872 rs757715894	590	V>M		No	ClinGen ExAC gnomAD
rs777370972 CA6871871	591	L>F		No	ClinGen ExAC gnomAD
CA6871870 rs778032678	592	P>L		No	ClinGen ExAC gnomAD
CA387224927 rs1366970104	598	A>T		No	ClinGen gnomAD
rs1323620822 CA387224915	599	P>R		No	ClinGen gnomAD
CA387224879 rs1323325724	603	A>V		No	ClinGen gnomAD
rs1487879759 CA387224842	606	F>C		No	ClinGen TOPMed
CA6871839 rs762547225	608	P>S		No	ClinGen ExAC gnomAD
CA387224815 rs1326017860	609	P>L		No	ClinGen gnomAD
CA6871838 rs775249132	610	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1163114857 CA387224802	611	E>A		No	ClinGen TOPMed gnomAD
rs879003679 CA245265042	612	G>W		No	ClinGen Ensembl
CA387224784 rs1271403336	613	T>S		No	ClinGen gnomAD
TCGA novel	614	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	616	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387224755 rs1594488439	617	V>F		No	ClinGen Ensembl
rs1419689339 CA387224746	618	V>M		No	ClinGen TOPMed
rs1594488423 CA387224728	620	T>P		No	ClinGen Ensembl
rs1594488417 CA387224719	621	N>H		No	ClinGen Ensembl
rs1594488415 CA387224707	622	V>G		No	ClinGen Ensembl
CA6871832 rs143925453	625	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242605771 CA387224652	629	I>V		No	ClinGen Ensembl
rs912252779 CA245264991	630	P>A		No	ClinGen TOPMed
CA245264986 rs1049566606	630	P>L		No	ClinGen TOPMed
CA387224614 rs1184552244	633	K>M		No	ClinGen gnomAD
CA387224602 rs756319573 CA387224601	635	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6871828 rs756319573	635	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	636	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750227236 CA6871827	644	R>C		No	ClinGen ExAC gnomAD
rs1484477770 CA387224521	644	R>H		No	ClinGen gnomAD
rs1594488291 CA387224495	647	D>A		No	ClinGen Ensembl
CA245264975 rs931191466	647	D>E		No	ClinGen gnomAD
rs201143572 CA6871825 COSM227592	648	R>C	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC
rs116262888 CA6871824	648	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201143572 CA245264946	648	R>S		No	ClinGen 1000Genomes ExAC
rs374306257 CA6871822	649	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs141344600 CA6871820	652	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs759207005 CA6871819 COSM1511278	654	S>Y	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs778553042	654	S>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1209351524 CA387224443	654	S>A		No	ClinGen TOPMed
rs773733354 COSM1241077 CA6871817	656	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA387224422 COSM547113 rs1445795833	656	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs199569663 CA6871816	658	T>I		No	ClinGen ExAC TOPMed gnomAD
CA387224390 rs1289861681	659	W>C		No	ClinGen TOPMed gnomAD
rs148260311 CA245264920	661	S>P		No	ClinGen ESP
rs748490447 CA6871815	662	Q>*		No	ClinGen ExAC gnomAD
rs774968908 CA6871814	663	A>T		No	ClinGen ExAC gnomAD
rs1167023249 CA387224319	668	R>*		No	ClinGen TOPMed gnomAD
CA387224316 rs1174451157	668	R>L		No	ClinGen TOPMed
CA6871813 rs370648754	669	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs61757599 CA6871809	675	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1206419934 CA387224248	676	E>D		No	ClinGen TOPMed gnomAD
CA6871807 rs757085546	677	P>A		No	ClinGen ExAC gnomAD
CA387224239 rs1321923614	678	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746007936 CA6871804	678	G>S		No	ClinGen ExAC TOPMed gnomAD
CA387224214 rs1311506006	681	Y>H		No	ClinGen TOPMed gnomAD
CA387224215 rs1311506006	681	Y>N		No	ClinGen TOPMed gnomAD
CA6871776 rs1393503339	687	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1207906104 CA387224152	688	V>A		No	ClinGen gnomAD
CA245260983 rs867040734	690	G>C		No	ClinGen Ensembl
CA387224134 rs1257706745	691	D>A		No	ClinGen gnomAD
TCGA novel	692	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374203282 CA6871772 COSM1718606	693	E>K	NS [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1300643187 CA387224098	696	P>S		No	ClinGen gnomAD
rs747150804 CA6871771	697	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1367650155 CA387224082	698	P>L		No	ClinGen TOPMed gnomAD
CA387224062 rs1295027810	701	T>S		No	ClinGen TOPMed
CA6871769 rs114877276	702	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs114212811 CA6871770	702	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6871768 rs747951412	703	R>G		No	ClinGen ExAC gnomAD
rs754959188 CA6871766	703	R>S		No	ClinGen ExAC TOPMed gnomAD
CA245260898 rs764370454	704	P>L		No	ClinGen ExAC gnomAD
rs764370454 CA6871765	704	P>R		No	ClinGen ExAC gnomAD
CA387224050 rs1376622621	704	P>S		No	ClinGen gnomAD
CA6871764 rs779649240	705	V>L		No	ClinGen ExAC gnomAD
CA387224022 rs755816731	708	L>F		No	ClinGen ExAC TOPMed gnomAD
CA6871762 rs750008401	714	A>S		No	ClinGen ExAC gnomAD
rs576525132 COSM328725 CA6871761	714	A>V	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs765802466 CA6871758	715	L>F		No	ClinGen ExAC gnomAD
rs766329234 CA6871756	716	N>K		No	ClinGen ExAC TOPMed gnomAD
rs759969141 CA6871757	716	N>S		No	ClinGen ExAC TOPMed gnomAD
CA387223970 rs759969141	716	N>T		No	ClinGen ExAC TOPMed gnomAD
CA387223966 rs35016004	717	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_052187 CA6871754 rs35016004	717	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6871753 rs146758195	718	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6871734 rs773333883	720	V>D		No	ClinGen ExAC gnomAD
CA6871732 rs200059139	721	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs768535336 CA6871730	722	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1449986813 CA387223914	723	F>L		No	ClinGen gnomAD
rs1566327847 CA387223902	725	F>L		No	ClinGen Ensembl
COSM547115 CA6871729 rs749064803	726	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6871727 rs769759967	727	T>A		No	ClinGen ExAC gnomAD
rs371186622 CA245257183	727	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371186622 CA6871726	727	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780688929 CA6871725	728	P>S		No	ClinGen ExAC gnomAD
CA6871723 rs746616956	729	P>L		No	ClinGen ExAC gnomAD
CA387223871 rs1250920736	730	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6871720 rs754186165	731	V>L		No	ClinGen ExAC TOPMed gnomAD
CA387223860 rs1269750460	732	E>D		No	ClinGen gnomAD
CA6871718 rs369900132	736	A>P		No	ClinGen ESP ExAC gnomAD
rs199752789 CA6871716	737	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA245257105 rs150100852	738	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288229842 CA387223826	738	E>D		No	ClinGen gnomAD
CA6871714 rs150100852	738	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439402008 CA387223823	739	E>K		No	ClinGen gnomAD
CA6871711 rs568230997	743	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6871712 rs764393311	743	A>T		No	ClinGen ExAC gnomAD
CA245257080 rs568230997	743	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6871710 rs375342368	749	P>L		No	ClinGen ESP ExAC gnomAD
rs1318258718 CA387223754	750	P>L		No	ClinGen TOPMed
TCGA novel	751	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411150077 CA387223732	753	A>V		No	ClinGen gnomAD
CA387223721 rs759460846	755	R>K		No	ClinGen ExAC gnomAD
CA6871707 rs759460846	755	R>T		No	ClinGen ExAC gnomAD
rs1594477693 CA387223702	756	V>G		No	ClinGen Ensembl
CA6871683 rs747785193	756	V>M		No	ClinGen ExAC gnomAD
rs1189249539 CA387223675	760	Q>P		No	ClinGen gnomAD
CA387223662 rs1181587511	762	N>Y		No	ClinGen TOPMed
rs746200469 CA6871680	763	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770231743 CA6871681	763	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6871679 rs781779754	765	S>T		No	ClinGen ExAC gnomAD
CA6871677 rs751694550	766	C>W		No	ClinGen ExAC gnomAD
rs376055845 CA387223633	767	P>S		No	ClinGen ESP ExAC gnomAD
CA6871676 rs376055845	767	P>T		No	ClinGen ESP ExAC gnomAD
rs1473940108 CA387223616	770	A>T		No	ClinGen gnomAD
CA6871675 rs758572566	770	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754858470 CA387223598	773	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754858470 CA6871672	773	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6871673 rs564185617	773	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA245255203 rs983127544	775	M>T		No	ClinGen Ensembl
CA6871671 rs753571123	775	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1283586506 CA387223558	780	V>M		No	ClinGen gnomAD
CA6871668 rs772727457	781	A>V		No	ClinGen ExAC gnomAD
rs761194412 CA6871666	783	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs144942500 CA6871665	783	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387223532 rs1168527892	784	Y>F		No	ClinGen gnomAD
CA387223529 rs1414966302	785	A>T		No	ClinGen gnomAD
TCGA novel	790	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6871660 rs369473407	792	R>*		No	ClinGen ESP ExAC gnomAD
CA387223481 rs747470305	792	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6871659 rs747470305	792	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1481624131 CA387223476	793	Q>P		No	ClinGen TOPMed
CA6871658 rs778032758	794	H>Y		No	ClinGen ExAC gnomAD
CA6871656 rs748162604	795	G>S		No	ClinGen ExAC TOPMed gnomAD
CA387223449 rs1594477413	797	L>P		No	ClinGen Ensembl
CA6871654 rs372590008	797	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147727115 CA6871653	799	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1352285299 CA387223433	799	Y>H		No	ClinGen TOPMed
rs145434272 CA245255031	801	I>V		No	ClinGen ESP TOPMed gnomAD
CA387223397 rs1372440731	802	T>A		No	ClinGen gnomAD
CA387223380 rs1372681170	803	I>T		No	ClinGen gnomAD
rs756072239 CA6871651	804	V>M		No	ClinGen ExAC gnomAD
CA6871650 rs750398697	805	A>G		No	ClinGen ExAC gnomAD
CA6871649 rs201210792	806	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387223326 TCGA novel rs1414850642	807	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA6871648 rs368885524	807	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773731836 CA6871647	808	T>M		No	ClinGen ExAC TOPMed gnomAD
rs144364142 CA6871644	810	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6871645 rs762459392	810	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	811	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA245254951 rs112026792	811	E>V		No	ClinGen Ensembl
CA245254935 rs111567814	814	E>D		No	ClinGen Ensembl
rs887554661 CA245254928	815	E>A		No	ClinGen Ensembl
rs1488590944 CA387223218	816	L>V		No	ClinGen gnomAD
RCV000790929 rs1594477300 CA387223192	818	R>K		No	ClinGen ClinVar Ensembl dbSNP
rs1383440935 CA387222589	819	P>L		No	ClinGen gnomAD
rs376497208 CA6871624	820	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1171403561 CA387222566	821	A>T		No	ClinGen gnomAD
rs1431227784 CA387222537	823	D>N		No	ClinGen gnomAD
CA6871621 rs199924927	824	E>K		No	ClinGen ExAC TOPMed gnomAD
rs774517204 CA6871620	825	E>A		No	ClinGen ExAC gnomAD
TCGA novel	825	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387222455 rs1279663498	829	L>P		No	ClinGen gnomAD
rs749346050 CA6871618	829	L>V		No	ClinGen ExAC gnomAD
rs199731932 COSM467988 CA245252748	831	S>G	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA
CA6871617 rs149339717	831	S>R		No	ClinGen ESP ExAC gnomAD
CA6871615 rs139700161	832	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6871616 rs139700161	832	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA387222416 rs1435054989	832	K>R		No	ClinGen TOPMed
CA6871613 rs757245596	833	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780796755 CA6871614	833	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6871611 rs371881147	834	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs142687812 CA6871610	835	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA387222385 rs1415899059	835	R>W		No	ClinGen TOPMed gnomAD
CA387222375 rs1287568026	836	V>L		No	ClinGen TOPMed
rs764983929 CA6871608	837	A>V		No	ClinGen ExAC TOPMed gnomAD
CA387222345 rs1460330898	838	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750821411 CA6871606	838	Q>R		No	ClinGen ExAC gnomAD
rs767730811 CA6871605	839	M>T		No	ClinGen ExAC gnomAD
rs1449993777 CA387222313	840	K>N		No	ClinGen TOPMed
rs1165447964 CA387222297	842	T>A		No	ClinGen gnomAD
rs1566324787 CA387222273	844	A>T		No	ClinGen Ensembl
rs769190348 CA6871602	847	G>R		No	ClinGen ExAC gnomAD
TCGA novel	848	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6871601 rs763090216	848	A>S		No	ClinGen ExAC gnomAD
CA245252585 rs755499369	850	L>Q		No	ClinGen Ensembl
rs1251585137 CA387222175	852	L>F		No	ClinGen gnomAD
rs1337899825 CA387222163	853	G>S		No	ClinGen gnomAD
CA6871598 rs746044350	854	D>N		No	ClinGen ExAC gnomAD
rs1334796930 CA387222140	855	L>V		No	ClinGen gnomAD
rs1372904092 CA387222125	856	M>L		No	ClinGen TOPMed
CA6871597 rs781073177	856	M>T		No	ClinGen ExAC gnomAD
rs543372890 CA6871595	857	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770672674 CA6871596	857	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770672674 CA387222113	857	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6871574 rs772157759	861	A>T		No	ClinGen ExAC gnomAD
TCGA novel	861	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748058922 CA6871573 COSM3376170	862	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA387221988 rs1273451895	863	G>E		No	ClinGen gnomAD
CA387221983 rs1468604657	864	A>S		No	ClinGen TOPMed gnomAD
CA387221945 CA387221947 rs4258464	866	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387221920 rs748815708	868	A>G		No	ClinGen ExAC gnomAD
CA6871571 rs754580190	868	A>T		No	ClinGen ExAC gnomAD
CA6871570 rs748815708	868	A>V		No	ClinGen ExAC gnomAD
CA387221914 rs4516060	869	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_052188 CA6871568 rs4516060	869	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs751886485 CA6871567	870	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1284137093 CA387221882	871	T>I		No	ClinGen gnomAD
CA6871566 rs764396850	872	P>L		No	ClinGen ExAC gnomAD
rs970654796 CA245252280	875	C>Y		No	ClinGen Ensembl
CA245252277 rs370040418	876	E>K		No	ClinGen ESP TOPMed gnomAD
CA387221813 rs1368578888	877	A>T		No	ClinGen gnomAD
CA387221805 rs1299566909	877	A>V		No	ClinGen gnomAD
CA6871563 rs753242847	878	N>K		No	ClinGen ExAC gnomAD
rs1431140093 CA387221795	878	N>S		No	ClinGen gnomAD
CA6871560 rs148208268 CA6871561	879	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	879	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	881	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6871558 rs143086024	881	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6871559 rs776770438	881	R>W		No	ClinGen ExAC TOPMed gnomAD
CA387221750 rs1393451026	882	Y>C		No	ClinGen TOPMed gnomAD
rs1188691402 CA387221736	883	K>R		No	ClinGen gnomAD
rs773170866 CA6871556	885	M>I		No	ClinGen ExAC gnomAD
TCGA novel	885	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760900691 CA6871557	885	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6871553 rs774485225	889	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6871554 rs747925656	889	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6871551 rs748749550	890	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1214952529 CA387221641	890	R>H		No	ClinGen TOPMed gnomAD
rs769356648 CA6871549	892	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6871550 rs369049552	892	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA387221616 rs1389789189	893	G>S		No	ClinGen TOPMed
CA387221600 rs1306359077	894	Q>P		No	ClinGen TOPMed
rs530476112 CA6871544	898	A>T	Variant assessed as Somatic; 4.808e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA387220867 rs1159235757	900	N>D		No	ClinGen TOPMed gnomAD
CA6871510 rs772707770	900	N>S		No	ClinGen ExAC gnomAD
TCGA novel	901	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs554685797 CA6871508	902	V>L		No	ClinGen ExAC TOPMed gnomAD
rs554685797 CA6871507	902	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6871506 rs756620148	904	P>S		No	ClinGen ExAC gnomAD
CA6871505 rs369804720	905	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	909	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1644545 rs751873837 CA6871502	910	V>M	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs925694890 CA245250490	911	D>H		No	ClinGen gnomAD
rs1594472869 CA387220726	911	D>V		No	ClinGen Ensembl
CA387220732 rs925694890	911	D>Y		No	ClinGen gnomAD
rs764204216 CA6871501	912	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA387220678 rs1364709131	914	M>I		No	ClinGen gnomAD
rs1439109778 CA387220687	914	M>L		No	ClinGen gnomAD
rs1289908297 CA387220669	915	Q>P		No	ClinGen TOPMed gnomAD
CA387220668 rs1289908297	915	Q>R		No	ClinGen TOPMed gnomAD
rs1212139436 CA387220658	916	P>A		No	ClinGen TOPMed gnomAD
CA6871499 rs202185570	916	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA387220645 rs1175176162	917	P>S		No	ClinGen TOPMed gnomAD
CA387220649 rs1175176162	917	P>T		No	ClinGen TOPMed gnomAD
CA245250458 rs868425592	918	T>I		No	ClinGen Ensembl
rs760155036 CA6871494	919	E>D		No	ClinGen ExAC gnomAD
CA6871495 rs765913270	919	E>K		No	ClinGen ExAC gnomAD
CA6871493 rs772975395	920	S>R		No	ClinGen ExAC gnomAD
CA387220555 rs1485606627	924	Y>C		No	ClinGen gnomAD
CA6871491 rs749664687	924	Y>H		No	ClinGen ExAC gnomAD
CA387220557 rs1485606627	924	Y>S		No	ClinGen gnomAD
rs770444887 CA6871489	926	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA245250435 rs372801369	927	Q>H		No	ClinGen ESP gnomAD
CA6871487 rs538005722	928	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763109700 CA6871486	929	V>M		No	ClinGen ExAC gnomAD
rs764169374 CA6871485	930	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1382127342 CA387220495	931	A>V		No	ClinGen TOPMed gnomAD
CA6871482 rs752553207	936	H>D		No	ClinGen ExAC gnomAD
CA387220448 rs752553207	936	H>N		No	ClinGen ExAC gnomAD
rs1030462839 CA245250373	937	L>F		No	ClinGen TOPMed
rs1374483966 CA387220425	938	A>T		No	ClinGen gnomAD
CA6871481 rs764894461	939	R>C		No	ClinGen ExAC TOPMed gnomAD
rs145503759 CA6871479	939	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs145503759 CA6871480	939	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA387220399 rs1169711232	940	R>K		No	ClinGen gnomAD
rs1594472680 CA387220379	941	V>G		No	ClinGen Ensembl
rs760244891 CA387220341	943	S>R		No	ClinGen ExAC gnomAD
CA6871476 rs772529799	944	E>K		No	ClinGen ExAC gnomAD
TCGA novel	945	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA245250307 rs377438294	946	M>I		No	ClinGen ESP TOPMed gnomAD
rs370278054 CA245250285	949	D>N		No	ClinGen ESP
rs552353272 CA6871474	950	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1481848818 CA387220244 CA387220246	951	W>R		No	ClinGen gnomAD
rs1227094913 CA387220200	954	A>T		No	ClinGen TOPMed gnomAD
rs1341364296 CA387220177	956	K>E		No	ClinGen TOPMed
rs779168447 CA6871447	957	T>I		No	ClinGen ExAC gnomAD
rs1594471217 CA387220061	957	T>P		No	ClinGen Ensembl
rs1259855348 CA387220050	958	P>A		No	ClinGen gnomAD
rs1264574985 CA387220032	960	L>F		No	ClinGen TOPMed
rs1439801044 CA387220006	961	D>E		No	ClinGen TOPMed gnomAD
CA6871446 rs768799595	961	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6871445 rs140554912	962	D>N	Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs140554912 CA387220001	962	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6871444 rs375762765	965	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA387219952 rs1425725352	966	I>T		No	ClinGen TOPMed
rs199578145 CA245248653	967	H>L		No	ClinGen Ensembl
rs1385720518 CA387219928	968	P>S		No	ClinGen gnomAD
CA387219918 rs1158323031	969	S>G		No	ClinGen gnomAD
rs151265243 CA6871442	971	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA245248600 rs201090732	972	L>P		No	ClinGen 1000Genomes
rs369525506 CA6871441	972	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA387219191 rs1245540311	973	F>S		No	ClinGen gnomAD
TCGA novel	975	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358118635 CA387219160	975	E>Q		No	ClinGen TOPMed
CA6871440 rs756776212	977	P>S		No	ClinGen ExAC TOPMed gnomAD
rs376940167 CA6871438	978	E>K		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA6871437 rs376940167	978	E>Q		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs61757600 CA6871435	985	I>M		No	ClinGen ExAC TOPMed gnomAD
rs892531538 CA245248549	993	M>I		No	ClinGen Ensembl
CA6871395 rs757584327	996	V>D		No	ClinGen ExAC TOPMed gnomAD
rs781579759 CA6871396	996	V>I		No	ClinGen ExAC TOPMed gnomAD
rs764572620 CA6871393	998	S>I		No	ClinGen ExAC TOPMed gnomAD
rs764572620 CA245248192	998	S>T		No	ClinGen ExAC TOPMed gnomAD
rs148710712 CA6871391	999	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1241078 CA6871390 rs148710712	999	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1220648222 CA387218495	1001	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1256579893 CA387218445	1003	W>*		No	ClinGen TOPMed
CA6871388 rs776325656	1005	P>L		No	ClinGen ExAC gnomAD
rs144251258 CA6871386 RCV000898425	1007	L>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747670710 CA6871383	1011	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA245248089 rs1037207097	1011	Y>C		No	ClinGen TOPMed
rs376756435 CA6871384	1011	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468888576 CA387218250	1012	C>F		No	ClinGen gnomAD
rs1468888576 CA387218256	1012	C>Y		No	ClinGen gnomAD
CA245248058 rs888734993	1015	D>E		No	ClinGen TOPMed
rs998289104 CA245248059	1015	D>N		No	ClinGen gnomAD
CA6871381 rs533819369	1016	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA6871380 rs768224145	1017	P>T		No	ClinGen ExAC gnomAD
rs1594470780 CA387218091	1020	E>D		No	ClinGen Ensembl
CA245248037 rs566455917	1020	E>K		No	ClinGen 1000Genomes gnomAD
CA387218072 rs1353194025	1021	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA387218077 rs1353194025	1021	P>Q		No	ClinGen TOPMed gnomAD
rs749008061 CA6871379	1021	P>T		No	ClinGen ExAC TOPMed gnomAD
CA387218049 rs1307568988	1023	P>A		No	ClinGen gnomAD
CA387218051 rs1307568988	1023	P>S		No	ClinGen gnomAD
CA6871376 rs144143802	1028	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6871374 rs765324771	1029	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6871373 rs765324771	1029	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6871372 rs765324771	1029	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6871375 rs375520939	1029	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6871371 rs759506422 CA387217910	1030	G>R		No	ClinGen ExAC gnomAD
CA6871369 rs376946837	1031	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6871367 rs146274723	1031	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6871368 rs376946837	1031	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA245247985 rs963531226	1032	V>L		No	ClinGen Ensembl
TCGA novel	1033	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6871366 rs371290422	1035	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs761770055 CA387217800	1036	R>G		No	ClinGen ExAC TOPMed gnomAD
rs371053198 CA6871364	1036	R>P		No	ClinGen ExAC TOPMed gnomAD
rs371053198 CA6871363	1036	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6871365 rs761770055	1036	R>W		No	ClinGen ExAC TOPMed gnomAD
rs944461148 CA245247967	1038	S>N		No	ClinGen TOPMed gnomAD
CA387217747 rs1284076113	1039	V>L		No	ClinGen TOPMed gnomAD
rs1284076113 CA387217750	1039	V>M		No	ClinGen TOPMed gnomAD
rs927709664 CA245247613	1041	Y>C		No	ClinGen Ensembl
CA387217601 rs927709664	1041	Y>F		No	ClinGen Ensembl
rs774923441 CA6871342	1042	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201416687 CA6871341	1042	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs776239184 CA6871339	1043	V>M		No	ClinGen ExAC TOPMed gnomAD
CA387217562 rs1255655177	1044	G>D		No	ClinGen gnomAD
rs370124546 CA245247592	1046	P>L		No	ClinGen TOPMed gnomAD
CA387217484 rs1316540629	1048	P>H		No	ClinGen gnomAD
CA6871335 rs755379720	1049	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1392987711 CA387217428	1050	I>M		No	ClinGen TOPMed gnomAD
CA387217443 rs1310118481	1050	I>V		No	ClinGen TOPMed gnomAD
rs199842004 CA6871333	1051	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330647160 CA387217388	1052	V>G		No	ClinGen gnomAD
rs767836992 CA387217373	1053	D>G		No	ClinGen ExAC gnomAD
rs150528845 CA6871332	1053	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs767836992 CA6871330	1053	D>V		No	ClinGen ExAC gnomAD
CA6871331 rs150528845	1053	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA387217275 rs1309931427	1057	G>V		No	ClinGen gnomAD
CA387217254 rs1234763887	1058	I>M		No	ClinGen TOPMed
rs116833233 CA6871327	1060	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6871328 rs116833233	1060	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370842676 CA6871326	1060	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA387217206 rs1185689300	1061	Y>C		No	ClinGen gnomAD
CA6871325 rs775013263	1062	K>E		No	ClinGen ExAC gnomAD
CA387217175 rs368319156	1062	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs575749736 CA6871324	1062	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748556352 CA6871320	1066	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1628448 CA6871321 rs770488937	1066	R>W	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6871319 rs774527939	1070	E>A		No	ClinGen ExAC
CA6871295 rs770357189	1075	R>C		No	ClinGen ExAC gnomAD
CA6871294 rs201427040	1075	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201427040 CA387216894	1075	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781083209 CA6871293	1076	K>E		No	ClinGen ExAC gnomAD
CA6871292 rs116092368	1076	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6871291 rs747236903	1077	L>V		No	ClinGen ExAC gnomAD
CA387216860 rs1173473378	1078	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	1079	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778036559 CA6871290	1079	S>P		No	ClinGen ExAC gnomAD
rs4447263 CA387216814	1081	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs4447263 VAR_052189 CA6871289	1081	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1376362879 CA387216819	1081	R>W		No	ClinGen gnomAD
rs752488568 CA6871288	1083	C>F		No	ClinGen ExAC gnomAD
rs546607561 CA6871284	1089	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767192841 CA6871281	1091	M>I		No	ClinGen ExAC gnomAD
rs1594470018 CA387216698	1091	M>T		No	ClinGen Ensembl
rs750099952 CA6871282	1091	M>V		No	ClinGen ExAC gnomAD
CA387216654 rs1294961771	1095	W>R		No	ClinGen TOPMed gnomAD
rs1376264620 CA387216174	1098	L>P		No	ClinGen TOPMed
CA387216161 rs1457266531	1100	P>L		No	ClinGen gnomAD
rs760679623 CA6871256	1100	P>T		No	ClinGen ExAC gnomAD
COSM1203552 rs369243193 CA6871255	1101	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6871253 rs146941853	1102	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1103	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6871251 rs768494549	1103	E>Q		No	ClinGen ExAC gnomAD
rs779858627 CA6871249	1104	S>T		No	ClinGen ExAC TOPMed gnomAD
CA6871248 rs756021430	1105	L>F		No	ClinGen ExAC TOPMed gnomAD
CA6871247 rs745391990	1106	L>M		No	ClinGen ExAC TOPMed gnomAD
rs780808803 CA6871246	1107	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6871245 rs751307460	1107	R>P		No	ClinGen ExAC gnomAD
CA6871244 rs751307460	1107	R>Q		No	ClinGen ExAC gnomAD
CA6871243 rs115531779	1108	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755367407 CA6871242	1108	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6871239 rs761200169	1112	E>K		No	ClinGen ExAC gnomAD
CA6871238 rs773673529	1113	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA387216085 rs1378479866	1115	D>N		No	ClinGen gnomAD
rs1490590143 CA387216076	1116	C>R		No	ClinGen TOPMed
rs761865574 CA6871236	1117	H>R		No	ClinGen ExAC gnomAD
CA387216058 rs1247392146	1118	E>A		No	ClinGen gnomAD
CA6871235 rs774620946	1120	L>F		No	ClinGen ExAC gnomAD
CA387216031 rs1489928629	1123	A>T		No	ClinGen gnomAD
CA387216002 rs1241383521	1126	K>N		No	ClinGen gnomAD
CA6871234 rs141129413	1126	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA387215991 rs1353434957	1128	P>S		No	ClinGen gnomAD
CA245243283 rs1033067783	1129	K>T		No	ClinGen TOPMed
rs1400892887 CA387215674	1130	Y>S		No	ClinGen gnomAD
rs757711097 CA6871199	1132	L>M		No	ClinGen ExAC TOPMed gnomAD
CA387215662 rs1465149366	1133	A>P		No	ClinGen gnomAD
CA387215660 rs1465149366	1133	A>S		No	ClinGen gnomAD
CA387215659 rs1594468022	1133	A>V		No	ClinGen Ensembl
rs751670139 CA6871198	1140	P>S		No	ClinGen ExAC gnomAD
rs1167169148 CA387215603	1141	Q>E		No	ClinGen gnomAD
rs764275106 CA6871197 COSM3954354	1141	Q>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6871195 rs138514515	1142	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6871194 rs150801808	1143	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1239265285 CA387215582	1144	H>D		No	ClinGen gnomAD
rs1239265285 CA387215584	1144	H>Y		No	ClinGen gnomAD
rs776513458 CA6871192	1145	P>L		No	ClinGen ExAC gnomAD
CA6871193 rs759411582	1145	P>S		No	ClinGen ExAC gnomAD
CA387215567 rs1320673240	1146	D>E		No	ClinGen TOPMed gnomAD
rs147118113 COSM1250061 CA6871190	1146	D>N	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
RCV000911270 CA6871189 rs148973591	1147	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs145827065 CA6871187	1148	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA387215531 rs1594467948	1151	W>C		No	ClinGen Ensembl
CA245242885 rs201693216	1155	T>S		No	ClinGen TOPMed gnomAD
CA6871182 rs746251397	1157	H>L		No	ClinGen ExAC gnomAD
CA387215496 rs746251397	1157	H>R		No	ClinGen ExAC gnomAD

2 associated diseases with Q8IY37

[MIM: 618731]: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC)

An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, impaired intellectual development, hypotonia, brain anomalies including cortical volume loss, corpus callosum dysgenesis and cerebellar hypoplasia, and variable dysmorphic features. Patients may have platyspondyly, scoliosis, and cardiac anomalies. {ECO:0000269|PubMed:26539891, ECO:0000269|PubMed:31256877}. Note=The disease may be caused by variants affecting the gene represented in this entry.

[MIM: 273250]: 46,XY sex reversal 11 (SRXY11)

An autosomal dominant disorder of sex development. Affected individuals have a 46,XY karyotype and a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity. Approximately half of patients present with micropenis and bilateral or unilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia. {ECO:0000269|PubMed:31287541, ECO:0000269|PubMed:31337883}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, impaired intellectual development, hypotonia, brain anomalies including cortical volume loss, corpus callosum dysgenesis and cerebellar hypoplasia, and variable dysmorphic features. Patients may have platyspondyly, scoliosis, and cardiac anomalies. {ECO:0000269|PubMed:26539891, ECO:0000269|PubMed:31256877}. Note=The disease may be caused by variants affecting the gene represented in this entry.
An autosomal dominant disorder of sex development. Affected individuals have a 46,XY karyotype and a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity. Approximately half of patients present with micropenis and bilateral or unilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia. {ECO:0000269|PubMed:31287541, ECO:0000269|PubMed:31337883}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q8IY37

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal	459 - 716	IPR001650
domain	Helicase-associated domain	736 - 859	IPR007502
domain	DEAD/DEAH box helicase domain	261 - 415	IPR011545
domain	DEAD-box helicase, OB fold	925 - 1010	IPR011709
domain	Helicase superfamily 1/2, ATP-binding domain	251 - 442	IPR014001

Functions

		Description
EC Number	3.6.4.13	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus, nucleolus Cytoplasm Nucleus membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

5 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.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA helicase activity	Unwinding of an RNA helix, driven by ATP hydrolysis.
U3 snoRNA binding	Binding to a U3 small nucleolar RNA.

5 GO annotations of biological process

Name	Definition
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and the Large Subunit (LSU) in that order from 5' to 3' along the primary transcript.
positive regulation of male gonad development	Any process that activates or increases the frequency, rate or extent of male gonad development.
ribosome assembly	The aggregation, arrangement and bonding together of the mature ribosome and of its subunits.
ribosome biogenesis	A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43329	hrpA	ATP-dependent RNA helicase HrpA	Escherichia coli (strain K12)	PR
O46072	kz	Probable ATP-dependent RNA helicase kurz	Drosophila melanogaster (Fruit fly)	PR
O43143	DHX15	ATP-dependent RNA helicase DHX15	Homo sapiens (Human)	PR
O60231	DHX16	Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16	Homo sapiens (Human)	PR
Q8IX18	DHX40	Probable ATP-dependent RNA helicase DHX40	Homo sapiens (Human)	PR
Q6P158	DHX57	Putative ATP-dependent RNA helicase DHX57	Homo sapiens (Human)	PR
Q7L7V1	DHX32	Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32	Homo sapiens (Human)	PR
Q9H2U1	DHX36	ATP-dependent DNA/RNA helicase DHX36	Homo sapiens (Human)	PR
Q92620	DHX38	Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16	Homo sapiens (Human)	PR
P34305	rha-2	Putative ATP-dependent RNA helicase rha-2	Caenorhabditis elegans	PR

10	20	30	40	50	60
MGKLRRRYNI	KGRQQAGPGP	SKGPPEPPPV	QLELEDKDTL	KGVDASNALV	LPGKKKKKTK
70	80	90	100	110	120
APPLSKKEKK	PLTKKEKKVL	QKILEQKEKK	SQRAEMLQKL	SEVQASEAEM	RLFYTTSKLG
130	140	150	160	170	180
TGNRMYHTKE	KADEVVAPGQ	EKISSLSGAH	RKRRRWPSAE	EEEEEEEESE	SELEEESELD
190	200	210	220	230	240
EDPAAEPAEA	GVGTTVAPLP	PAPAPSSQPV	PAGMTVPPPP	AAAPPLPRAL	AKPAVFIPVN
250	260	270	280	290	300
RSPEMQEERL	KLPILSEEQV	IMEAVAEHPI	VIVCGETGSG	KTTQVPQFLY	EAGFSSEDSI
310	320	330	340	350	360
IGVTEPRRVA	AVAMSQRVAK	EMNLSQRVVS	YQIRYEGNVT	EETRIKFMTD	GVLLKEIQKD
370	380	390	400	410	420
FLLLRYKVVI	IDEAHERSVY	TDILIGLLSR	IVTLRAKRNL	PLKLLIMSAT	LRVEDFTQNP
430	440	450	460	470	480
RLFAKPPPVI	KVESRQFPVT	VHFNKRTPLE	DYSGECFRKV	CKIHRMLPAG	GILVFLTGQA
490	500	510	520	530	540
EVHALCRRLR	KAFPPSRARP	QEKDDDQKDS	VEEMRKFKKS	RARAKKARAE	VLPQINLDHY
550	560	570	580	590	600
SVLPAGEGDE	DREAEVDEEE	GALDSDLDLD	LGDGGQDGGE	QPDASLPLHV	LPLYSLLAPE
610	620	630	640	650	660
KQAQVFKPPP	EGTRLCVVAT	NVAETSLTIP	GIKYVVDCGK	VKKRYYDRVT	GVSSFRVTWV
670	680	690	700	710	720
SQASADQRAG	RAGRTEPGHC	YRLYSSAVFG	DFEQFPPPEI	TRRPVEDLIL	QMKALNVEKV
730	740	750	760	770	780
INFPFPTPPS	VEALLAAEEL	LIALGALQPP	QKAERVKQLQ	ENRLSCPITA	LGRTMATFPV
790	800	810	820	830	840
APRYAKMLAL	SRQHGCLPYA	ITIVASMTVR	ELFEELDRPA	ASDEELTRLK	SKRARVAQMK
850	860	870	880	890	900
RTWAGQGASL	KLGDLMVLLG	AVGACEYASC	TPQFCEANGL	RYKAMMEIRR	LRGQLTTAVN
910	920	930	940	950	960
AVCPEAELFV	DPKMQPPTES	QVTYLRQIVT	AGLGDHLARR	VQSEEMLEDK	WRNAYKTPLL
970	980	990	1000	1010	1020
DDPVFIHPSS	VLFKELPEFV	VYQEIVETTK	MYMKGVSSVE	VQWIPALLPS	YCQFDKPLEE
1030	1040	1050	1060	1070	1080
PAPTYCPERG	RVLCHRASVF	YRVGWPLPAI	EVDFPEGIDR	YKHFARFLLE	GQVFRKLASY
1090	1100	1110	1120	1130	1140
RSCLLSSPGT	MLKTWARLQP	RTESLLRALV	AEKADCHEAL	LAAWKKNPKY	LLAEYCEWLP
1150
QAMHPDIEKA	WPPTTVH