AiPD: Autoinhibited Protein Database

Q96MT7

Gene name	CFAP44
Protein name	Cilia- and flagella-associated protein 44
Names	WD repeat-containing protein 52
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55779
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-78 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-78 (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 Q96MT7

Entry ID	Method	Resolution	Chain	Position	Source
8J07	EM	410 A	i7/i9	1-1854	PDB
AF-Q96MT7-F1	Predicted				AlphaFoldDB

1343 variants for Q96MT7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001331756 CA81567937 rs749618390	106	S>P	Spermatogenic failure 20 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000626425 CA81562791 rs866096259	463	E>*	Spermatogenic failure 20 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_080886	463	E>del	SPGF20 [UniProt]	Yes	UniProt
RCV002544537 rs140307657 RCV000938133 CA2544143	508	M>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000626424 rs762760856 CA2544063	590	L>Q	Spermatogenic failure 20 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000903597 rs141847284 CA2544064 RCV002542071	590	L>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000496068 rs780798708	669	M>missing	Spermatogenic failure 20 [ClinVar]	Yes	ClinVar dbSNP
RCV002539346 CA2543908 rs143011495 RCV000885875	799	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1553756824 RCV000626427	940	E>missing	Spermatogenic failure 20 [ClinVar]	Yes	ClinVar dbSNP
RCV002539345 rs149130341 RCV000885874 CA2543784	961	N>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2543765 RCV000885873 RCV002539344 rs76055909	1015	G>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000626426 CA353783162 rs1262272674	1059	R>*	Variant assessed as Somatic; impact. Spermatogenic failure 20 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
VAR_080887	1059	R>del	SPGF20 [UniProt]	Yes	UniProt
rs149077800 RCV002539343 RCV000885872 CA2543740	1095	E>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2544590 rs752885039	4	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1264149304 CA353771761	5	D>E		No	ClinGen TOPMed
rs765506198 CA2544589	5	D>Y		No	ClinGen ExAC gnomAD
rs34121482 COSM1136913 CA2544588	6	D>H	kidney large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2544586 rs767419732	7	Q>H		No	ClinGen ExAC gnomAD
CA2544587 rs753873448	7	Q>R		No	ClinGen ExAC gnomAD
CA2544585 rs199993078	9	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2544584 rs774483229	10	D>H		No	ClinGen ExAC gnomAD
CA353771672 rs774483229	10	D>N		No	ClinGen ExAC gnomAD
CA353771554 rs1225406211	15	V>I		No	ClinGen TOPMed gnomAD
CA81569769 rs1030494483	20	D>G		No	ClinGen Ensembl
CA353771356 rs1285752391	26	R>G		No	ClinGen TOPMed gnomAD
CA353771339 rs1335137612	27	S>P		No	ClinGen TOPMed gnomAD
CA2544579 rs745318829	29	K>E		No	ClinGen ExAC gnomAD
CA81569761 rs965126415	30	S>A		No	ClinGen TOPMed
CA353771277 rs1576611450	32	S>P		No	ClinGen Ensembl
rs537758915 CA2544557	34	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1248150546 CA353770931	35	P>S		No	ClinGen gnomAD
rs746588474 CA2544556	36	V>I		No	ClinGen ExAC gnomAD
CA2544555 rs773691823	37	Q>E		No	ClinGen ExAC gnomAD
rs772578269 CA2544554	40	N>D		No	ClinGen ExAC gnomAD
rs748442220 CA2544553	41	T>R		No	ClinGen ExAC gnomAD
rs532207894 CA81568273	45	D>E		No	ClinGen Ensembl
CA353770702 rs1329830770	46	D>N		No	ClinGen gnomAD
rs1329830770 CA353770695	46	D>Y		No	ClinGen gnomAD
rs1405572017 CA353770672	47	T>I		No	ClinGen TOPMed
rs1369804390 CA353770649	49	E>*		No	ClinGen gnomAD
rs59722850 CA353770539	53	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs386664769 CA81568267	53	K>E		No	ClinGen Ensembl
CA2544549 rs59722850 VAR_062105	53	K>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA81568264 rs982322291	54	G>R		No	ClinGen Ensembl
CA2544547 rs199722807	57	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201969879 CA81568261	57	S>T		No	ClinGen Ensembl
CA353770404 rs1429281199	58	Y>C		No	ClinGen gnomAD
CA353770380 rs1373128033	59	L>S		No	ClinGen TOPMed
CA2544545 rs777786708	61	E>D		No	ClinGen ExAC gnomAD
rs151243104 CA2544546	61	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA353770283 rs1426673826	63	S>P		No	ClinGen gnomAD
CA2544544 rs752489992	64	D>G		No	ClinGen ExAC gnomAD
rs752489992 CA2544543	64	D>V		No	ClinGen ExAC gnomAD
rs547774450 CA2544541	67	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2544540 rs753427680	67	R>H		No	ClinGen ExAC TOPMed gnomAD
rs766113265 CA2544539	68	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1207941124 CA353770100	70	G>E		No	ClinGen gnomAD
CA353770080 rs1290894640	71	S>I		No	ClinGen TOPMed
rs760116186 CA2544538	72	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1302099677 CA353770045	73	S>G		No	ClinGen gnomAD
CA2544537 rs772713111	73	S>N		No	ClinGen ExAC gnomAD
rs1201568224 CA353769981	76	Q>R		No	ClinGen TOPMed
CA81568246 rs773222987	77	Y>C		No	ClinGen TOPMed gnomAD
CA2544534 rs762328209	79	D>H		No	ClinGen ExAC gnomAD
rs1576607515 CA353769850	82	S>C		No	ClinGen Ensembl
CA353769832 rs1468060329	83	T>A		No	ClinGen TOPMed gnomAD
rs1360205300 CA353769826	83	T>I		No	ClinGen gnomAD
CA81568237 rs887037759	84	T>A		No	ClinGen TOPMed gnomAD
CA353769816 rs1388010359	84	T>I		No	ClinGen gnomAD
CA81568235 rs887037759	84	T>S		No	ClinGen TOPMed gnomAD
CA2544531 rs780086350	85	V>I		No	ClinGen ExAC gnomAD
CA2544530 rs780086350	85	V>L		No	ClinGen ExAC gnomAD
CA2544511 rs142299289	87	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2544510 rs115750112 RCV000894317	87	Q>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs115750112 CA353769024	87	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2544509 rs746067426	89	T>N		No	ClinGen ExAC gnomAD
CA353768947 rs771127513	91	A>D		No	ClinGen ExAC
CA2544508 rs777030443	91	A>P		No	ClinGen ExAC gnomAD
CA353768949 rs777030443	91	A>T		No	ClinGen ExAC gnomAD
CA2544507 rs771127513	91	A>V		No	ClinGen ExAC
CA2544506 rs747166992	93	A>P		No	ClinGen ExAC gnomAD
rs747166992 CA353768933	93	A>S		No	ClinGen ExAC gnomAD
CA353768917 rs1405330110	94	V>M		No	ClinGen TOPMed
rs778653311 CA2544505	96	E>G		No	ClinGen ExAC gnomAD
rs1352813952 CA353768748	98	E>D		No	ClinGen gnomAD
rs951155363 CA81567945	101	V>A		No	ClinGen Ensembl
rs1309369502 CA353768588	102	K>T		No	ClinGen gnomAD
CA81567940 rs147329022	105	I>M		No	ClinGen ESP TOPMed gnomAD
rs748996514 CA2544503	107	E>G		No	ClinGen ExAC gnomAD
rs755949642 CA2544501	109	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1324002374 CA353768317	109	F>L		No	ClinGen TOPMed gnomAD
CA2544500 rs371155957	110	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2544499 rs767216492	111	Y>C		No	ClinGen ExAC gnomAD
CA2544498 rs756664016	112	D>V		No	ClinGen ExAC gnomAD
rs764471939 CA2544496	113	Y>C		No	ClinGen ExAC gnomAD
CA2544495 rs763541397	114	M>V		No	ClinGen ExAC gnomAD
rs1211874871 CA353768088	115	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353768053 rs1267833363	116	L>F		No	ClinGen TOPMed
CA2544494 rs776191039 COSM727187	118	S>L	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2544492 rs139101047	121	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1279630654 COSM419926 CA353767758	126	S>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs984951544 CA81567906	127	N>I		No	ClinGen TOPMed gnomAD
rs984951544 CA353767739	127	N>S		No	ClinGen TOPMed gnomAD
CA2544489 rs746993808	129	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746993808 CA353767694	129	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs368553947 CA353767673	130	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1338301939 CA353767608	132	L>F		No	ClinGen gnomAD
CA353767531 rs1394707138	135	L>P		No	ClinGen gnomAD
rs1435412239 CA353765467	137	H>Y		No	ClinGen gnomAD
CA81566612 rs1054077933	138	S>F		No	ClinGen Ensembl
rs867954537 CA81566608	141	Y>C		No	ClinGen TOPMed gnomAD
rs867954537 CA353765390	141	Y>F		No	ClinGen TOPMed gnomAD
rs1186919771 CA353765382	142	D>N		No	ClinGen gnomAD
CA81566605 rs935580188	143	C>Y		No	ClinGen Ensembl
rs149477584 CA2544472	144	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA353765316 rs1242278435	144	R>I		No	ClinGen gnomAD
rs760973928 CA2544471	146	R>*		No	ClinGen ExAC gnomAD
rs773353688 CA2544470	146	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA81566595 rs949818384	147	A>G		No	ClinGen Ensembl
rs773964027 CA2544469	147	A>Q		No	ClinGen ExAC
CA2544468 rs531896485	148	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs775349284 CA2544466	151	L>F		No	ClinGen ExAC gnomAD
COSM727188 CA2544465 rs769728207	152	L>P	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs780990198 CA2544463	154	D>N		No	ClinGen ExAC TOPMed gnomAD
CA353764995 rs1366870717	155	S>N		No	ClinGen gnomAD
rs1270577267 CA353764975	156	I>V		No	ClinGen gnomAD
rs370318076 CA2544461 COSM258732	157	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA353764938 rs757908791	158	I>L		No	ClinGen ExAC TOPMed gnomAD
CA2544459 rs757908791	158	I>V		No	ClinGen ExAC TOPMed gnomAD
rs752264279 CA2544458	159	Y>H		No	ClinGen ExAC gnomAD
CA2544457 rs779491276	160	I>V		No	ClinGen ExAC gnomAD
CA81566575 rs546288597	161	A>G		No	ClinGen 1000Genomes
CA2544455 rs754205860	163	N>Y		No	ClinGen ExAC gnomAD
CA2544454 rs572475080	164	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA2544453 rs760983812	164	Q>H		No	ClinGen ExAC gnomAD
rs1189290280 CA353764670	165	L>V		No	ClinGen gnomAD
CA353764632 rs1250472360	166	I>V		No	ClinGen gnomAD
CA353764474 rs1308930938	169	N>S		No	ClinGen gnomAD
rs1452892179 CA353764396	172	T>A		No	ClinGen gnomAD
rs774445732 CA2544449	178	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2544448 rs769673594 COSM727189	179	R>*	lung Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs759451649 CA2544447	179	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756160740 CA2544446	181	S>G		No	ClinGen ExAC TOPMed gnomAD
CA353764020 rs1338622200	181	S>N		No	ClinGen TOPMed
CA353763913 rs1411710700	183	G>A		No	ClinGen TOPMed gnomAD
CA353763888 rs1323128617	184	E>K		No	ClinGen gnomAD
rs541897678 CA2544442	185	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2544443 rs541897678	185	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA353763797 rs1410374895	186	I>T		No	ClinGen gnomAD
CA353763812 rs1472566011	186	I>V		No	ClinGen gnomAD
rs754584003 CA353763773	188	V>F		No	ClinGen ExAC TOPMed gnomAD
rs754584003 CA2544439	188	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1477591115 CA353761947	194	H>Q		No	ClinGen TOPMed
rs1464264479 CA353761975	194	H>Y		No	ClinGen gnomAD
rs1265945727 CA353761903	195	K>N		No	ClinGen TOPMed gnomAD
CA353761793 rs1317406866	198	F>V		No	ClinGen gnomAD
rs375438342 CA2544406	200	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA353761750 rs375438342	200	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA353761651 rs1373520581	202	E>G		No	ClinGen gnomAD
CA81565576 rs954945011	202	E>K		No	ClinGen TOPMed gnomAD
rs867778503 CA81565573	207	P>S		No	ClinGen Ensembl
rs764360194 CA2544403	208	D>E		No	ClinGen ExAC gnomAD
rs751778587 CA2544404	208	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2544405 rs757663679	208	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA353761493 rs1290954920	209	I>S		No	ClinGen gnomAD
rs1029007623 CA81565567	210	I>T		No	ClinGen Ensembl
CA2544402 rs542888750	211	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs752720664 CA2544401	212	Y>C		No	ClinGen ExAC gnomAD
rs138725993 CA353761405	213	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2544400 rs766295652	213	E>K		No	ClinGen ExAC gnomAD
rs1396572236 CA353761353 COSM727191	215	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA353761321 rs1193893985	217	L>V		No	ClinGen gnomAD
rs772295550 RCV000896122	218	R>missing		No	ClinVar dbSNP
CA2544396 rs767388785	219	P>S		No	ClinGen ExAC TOPMed gnomAD
rs774133139 CA2544394	221	R>S		No	ClinGen ExAC gnomAD
CA2544393 rs768429457	224	R>*		No	ClinGen ExAC TOPMed gnomAD
rs748793444 CA2544392	224	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2544374 rs751434000	228	E>D		No	ClinGen ExAC gnomAD
rs1408658383 CA353774633	232	A>T		No	ClinGen gnomAD
CA2544373 rs763791557	233	Y>C		No	ClinGen ExAC gnomAD
rs1559939604 CA353774620	234	V>M		No	ClinGen Ensembl
CA353774612 rs1299536512	235	D>A		No	ClinGen gnomAD
rs1363873407 CA353774592	237	N>K		No	ClinGen TOPMed gnomAD
rs922864836 CA81566292	238	Y>C		No	ClinGen TOPMed
rs1462116800 CA353774583	239	S>G		No	ClinGen gnomAD
CA2544370 rs775251170	240	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2544369 rs769186901	243	L>P		No	ClinGen ExAC gnomAD
rs759145758 CA2544368	245	S>F		No	ClinGen ExAC gnomAD
rs777068086 CA2544367	248	S>G		No	ClinGen ExAC gnomAD
rs771430458 CA2544366	248	S>N		No	ClinGen ExAC TOPMed gnomAD
CA353774518 rs1299094943	249	N>I		No	ClinGen TOPMed
rs140973883 CA2544365	249	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1196609287 CA353774511	250	P>L		No	ClinGen gnomAD
CA353774512 rs1196609287	250	P>R		No	ClinGen gnomAD
rs1488256518 CA353774506	251	D>G		No	ClinGen gnomAD
CA353774509 rs1385084315	251	D>H		No	ClinGen TOPMed
CA2544364 rs778129322	252	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2544363 rs201396812	253	T>A		No	ClinGen ExAC TOPMed gnomAD
CA353774489 rs1336169145	254	L>V		No	ClinGen gnomAD
rs1288266633 CA353774480	255	T>I		No	ClinGen TOPMed gnomAD
CA353774478 rs1419940468	256	I>V		No	ClinGen gnomAD
CA81566266 rs75389635	258	N>K		No	ClinGen Ensembl
rs984982894 CA81566263	259	W>*		No	ClinGen TOPMed
rs748287314 CA2544362	261	E>G		No	ClinGen ExAC gnomAD
rs776889611 CA2544361	263	Q>*		No	ClinGen ExAC
rs1215419628 CA353774410	265	I>L		No	ClinGen TOPMed
CA2544359 rs143566374	265	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2544357 rs757284330	266	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2544358 rs757284330	266	L>R		No	ClinGen ExAC TOPMed gnomAD
CA353774405 rs1391632414	266	L>V		No	ClinGen TOPMed gnomAD
CA353774391 rs1490044316	268	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763951648 CA2544355	269	K>E		No	ClinGen ExAC TOPMed gnomAD
CA353774315 rs1158352359	279	T>S		No	ClinGen gnomAD
rs764958494 CA353774293	282	P>L		No	ClinGen ExAC gnomAD
rs764958494 CA2544352	282	P>R		No	ClinGen ExAC gnomAD
rs765320838 CA81566220	283	D>N		No	ClinGen Ensembl
CA2544351 rs758900481	283	D>V		No	ClinGen ExAC TOPMed gnomAD
rs776148004 CA2544350	284	K>E		No	ClinGen ExAC gnomAD
rs16845107 CA2544348 VAR_053435	284	K>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2544349 rs543715475	284	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1456601203 CA353774281	285	E>K		No	ClinGen TOPMed
CA353774271 rs1469181477	286	E>*		No	ClinGen gnomAD
rs1207421845 CA353774246	289	T>I		No	ClinGen gnomAD
CA2544346 rs371652370	291	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs748601404 CA2544345	292	G>E		No	ClinGen ExAC gnomAD
CA353774232 rs1239116359	292	G>R		No	ClinGen TOPMed
rs778943334 CA2544344	294	G>V		No	ClinGen ExAC
CA353774216 rs1300787931	295	H>Y		No	ClinGen gnomAD
rs1442577083 CA353774199	297	K>R		No	ClinGen gnomAD
rs1258365248 CA353773707	298	F>C		No	ClinGen TOPMed
CA353773667 rs1473078913	300	E>D		No	ClinGen TOPMed
CA81565331 rs866997114	300	E>K		No	ClinGen gnomAD
rs1417303697 CA353773618	303	F>L		No	ClinGen TOPMed
CA353773607 rs1427662125	303	F>S		No	ClinGen TOPMed
rs762016042 CA2544326	304	T>M		No	ClinGen ExAC TOPMed gnomAD
rs749492755 CA2544323	307	G>R		No	ClinGen ExAC TOPMed gnomAD
rs749492755 COSM1535893 CA81565309	307	G>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1375581223 CA353773497	308	L>V		No	ClinGen TOPMed
rs1300323050 CA353773329	316	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA353773314 rs1431257097	316	R>L		No	ClinGen TOPMed gnomAD
rs1431257097 CA353773319	316	R>Q		No	ClinGen TOPMed gnomAD
CA353773295 rs1341231955	317	F>S		No	ClinGen TOPMed gnomAD
rs758395593 CA2544318	318	G>D		No	ClinGen ExAC TOPMed
rs777509389 CA2544319	318	G>S		No	ClinGen ExAC gnomAD
rs758395593 CA353773267	318	G>V		No	ClinGen ExAC TOPMed
rs1213774912 CA353773250	319	K>R		No	ClinGen TOPMed
CA2544316 rs376300090	321	I>V		No	ClinGen ESP ExAC gnomAD
rs1314882704 CA353773211	322	T>A		No	ClinGen TOPMed gnomAD
CA2544315 rs372385532	323	T>A		No	ClinGen ESP ExAC gnomAD
CA81565279 rs990398205	323	T>S		No	ClinGen TOPMed
CA353773185 rs1327116104	324	D>G		No	ClinGen gnomAD
rs1397695046 CA353773150	325	I>T		No	ClinGen gnomAD
rs200461029 CA2544312 COSM1670439	325	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs776429081 CA81565268	326	E>K		No	ClinGen gnomAD
rs368436860 CA2544310	329	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452167852 CA353772984	331	L>P		No	ClinGen TOPMed
CA353772927 rs1475243358	333	D>N		No	ClinGen gnomAD
rs998375484 CA81565254	335	K>E		No	ClinGen TOPMed
CA353772843 rs1231763891	335	K>R		No	ClinGen gnomAD
CA81564127 rs891722269	339	G>V		No	ClinGen TOPMed
rs749093203 CA2544297	342	W>C		No	ClinGen ExAC gnomAD
CA353771541 rs1192834175	343	G>R		No	ClinGen gnomAD
rs1274742712 CA353771506	344	N>K		No	ClinGen gnomAD
CA353771499 rs1214280665	345	M>L		No	ClinGen TOPMed gnomAD
rs1311000951 CA353771462	347	L>F		No	ClinGen gnomAD
CA2544294 rs750092086	351	G>S		No	ClinGen ExAC gnomAD
rs376002206 CA2544292	355	V>M		No	ClinGen ESP ExAC gnomAD
CA2544291 rs149761596	357	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2544290 rs534851684	358	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2544289 COSM1484455 rs763345969	359	R>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2544288 rs567449146	359	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs567449146 CA81564104	359	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1039127370 CA81564091	360	G>R		No	ClinGen TOPMed
CA2544286 rs759777550	362	S>R		No	ClinGen ExAC TOPMed gnomAD
rs765511584 CA2544287	362	S>T		No	ClinGen ExAC TOPMed gnomAD
CA2544285 rs140719234	363	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353771215 rs1408053638	366	H>L		No	ClinGen gnomAD
CA2544283 rs771035321	367	N>D		No	ClinGen ExAC gnomAD
CA2544282 rs760723523	367	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1254679542 CA353771185	371	N>Y		No	ClinGen gnomAD
rs1194007505 CA353771175	372	Q>R		No	ClinGen gnomAD
rs774284726 CA2544281	373	I>L		No	ClinGen ExAC gnomAD
CA353771156 rs1406032081	374	M>I		No	ClinGen TOPMed
rs1218110416 CA353771162	374	M>T		No	ClinGen TOPMed gnomAD
rs1050746611 CA81564063	374	M>V		No	ClinGen TOPMed gnomAD
rs370294371 CA2544279	376	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1279617908 CA353771142	376	Y>H		No	ClinGen gnomAD
CA2544277 rs769617969	378	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1304676671 CA353771113	378	G>S		No	ClinGen gnomAD
CA2544276 rs745531272	381	I>T		No	ClinGen ExAC gnomAD
rs992404453 CA81564040	381	I>V		No	ClinGen TOPMed
CA353771050 rs1576592028	383	V>A		No	ClinGen Ensembl
CA353771055 rs1360640773	383	V>I		No	ClinGen gnomAD
CA353771040 rs1576592024	384	G>V		No	ClinGen Ensembl
rs199896690 CA2544275	386	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1432533328 CA353771016	387	G>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1417058732 CA353770996	390	R>K		No	ClinGen gnomAD
rs140218323 CA81563180	391	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2544251 rs140218323	391	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353770845 rs1444106323	392	W>R		No	ClinGen TOPMed
CA353770825 rs1576590959	393	D>Y		No	ClinGen Ensembl
CA353770774 rs1162560562	395	E>Q		No	ClinGen TOPMed
rs748656157 CA2544250	396	T>K		No	ClinGen ExAC gnomAD
CA2544248 rs373659043	397	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1553760535 CA353770730	397	I>T		No	ClinGen Ensembl
CA2544249 rs779617993	397	I>V		No	ClinGen ExAC gnomAD
rs570164819 CA2544247	398	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA353770690 rs1393378846	399	T>S		No	ClinGen TOPMed gnomAD
CA353770655 rs1446981264	401	D>H		No	ClinGen TOPMed
CA81563164 rs200541138	404	D>E		No	ClinGen 1000Genomes gnomAD
CA353770543 rs1332989599	406	T>S		No	ClinGen TOPMed
rs756312526 CA2544245	411	I>T		No	ClinGen ExAC gnomAD
rs1576590932 CA353770379	414	I>V		No	ClinGen Ensembl
CA353770282 rs1379880541	418	Q>P		No	ClinGen TOPMed
CA353770279 rs1379880541	418	Q>R		No	ClinGen TOPMed
CA353770264 rs1181147106	419	V>I		No	ClinGen gnomAD
CA2544243 rs771808564	420	D>A		No	ClinGen ExAC TOPMed gnomAD
CA353770184 rs1213169611	422	N>D		No	ClinGen TOPMed
CA2544240 rs765093424	425	L>F		No	ClinGen ExAC TOPMed gnomAD
CA81563132 rs868815112	427	S>F		No	ClinGen Ensembl
CA2544237 rs770812321	428	M>T		No	ClinGen ExAC gnomAD
rs776317299 CA2544238	428	M>V		No	ClinGen ExAC TOPMed gnomAD
CA353770027 rs1460901642	429	I>K		No	ClinGen TOPMed
rs971725838 CA81563124	429	I>M		No	ClinGen TOPMed gnomAD
rs746626045 CA2544236	430	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1473703581 CA353770004	430	K>R		No	ClinGen TOPMed
rs1184712930 CA353769986	431	M>V		No	ClinGen TOPMed
CA353769896 rs1422604771	435	G>R		No	ClinGen TOPMed
CA2544235 rs773062344	436	N>S		No	ClinGen ExAC gnomAD
rs771691859 CA2544234	439	W>C		No	ClinGen ExAC TOPMed gnomAD
rs939270171 CA81563117	439	W>L		No	ClinGen TOPMed gnomAD
CA353769795 rs1156344908	440	L>F		No	ClinGen gnomAD
CA353769794 rs1370016344	441	A>S		No	ClinGen TOPMed gnomAD
CA353769792 rs1370016344	441	A>T		No	ClinGen TOPMed gnomAD
CA353769763 rs1380389836	443	D>V		No	ClinGen TOPMed
rs562082814 CA2544213	445	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1191700066 CA353769750	445	N>K		No	ClinGen gnomAD
rs144496814 CA2544212	445	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA81563010 rs144496814	445	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs897536935 CA81563005	447	A>T		No	ClinGen TOPMed
CA353769736 rs1449186320	448	I>L		No	ClinGen gnomAD
CA81563001 rs773304759	448	I>M		No	ClinGen Ensembl
rs1264761806 CA353769717	450	K>N		No	ClinGen TOPMed gnomAD
rs1387758054 CA353769708	452	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA353769699 rs1216662522	453	L>F		No	ClinGen gnomAD
rs1485178738 CA353769688	454	S>R		No	ClinGen gnomAD
CA353769683 rs1325741260	455	F>S		No	ClinGen TOPMed
rs1277734456 CA353769672	457	N>D		No	ClinGen gnomAD
rs1415062059 CA353769641	459	T>I		No	ClinGen gnomAD
CA2544192 rs374171513	460	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489556079 CA353769631	461	D>A		No	ClinGen TOPMed
CA353769628 rs1179473842	461	D>E		No	ClinGen TOPMed gnomAD
rs770318749 CA2544191	461	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1489556079 CA353769629	461	D>V		No	ClinGen TOPMed
CA353769624 rs1458926713	462	P>S		No	ClinGen gnomAD
CA353769617 rs1213028191	463	E>G		No	ClinGen gnomAD
CA353769620 rs866096259	463	E>K		No	ClinGen TOPMed gnomAD
rs746183942 CA2544190	464	C>S		No	ClinGen ExAC gnomAD
rs1576590366 CA353769610	464	C>S		No	ClinGen Ensembl
rs1292181435 CA353769605	465	L>F		No	ClinGen gnomAD
CA2544189 rs781516982	466	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1576590356 CA353769592	467	S>P		No	ClinGen Ensembl
CA2544188 rs149237909	468	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353769576 rs1278008332	469	H>R		No	ClinGen gnomAD
CA353769562 rs1378138898	471	G>A		No	ClinGen gnomAD
CA353769559 rs1325600108	472	A>T		No	ClinGen gnomAD
CA81562774 rs376875025	473	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs747195998 CA2544187	474	E>*		No	ClinGen ExAC gnomAD
rs1397295069 CA353769545	474	E>G		No	ClinGen gnomAD
CA353769541 rs1166364210	475	A>T		No	ClinGen gnomAD
CA2544185 RCV000881729 rs140356033	476	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2544184 rs752823318	477	A>V		No	ClinGen ExAC gnomAD
rs779813584 CA2544183	478	V>I		No	ClinGen ExAC TOPMed gnomAD
CA353769525 rs779813584	478	V>L		No	ClinGen ExAC TOPMed gnomAD
rs756141951 CA2544182	479	S>C		No	ClinGen ExAC gnomAD
rs750434192 CA2544181	480	P>R		No	ClinGen ExAC gnomAD
CA2544179 rs761758858	481	L>F		No	ClinGen ExAC gnomAD
rs763812427 CA2544177	482	T>A		No	ClinGen ExAC gnomAD
rs775091254 CA2544175	483	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs775091254 CA353769497	483	Y>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762331050 CA2544176	483	Y>N		No	ClinGen ExAC gnomAD
rs771760052 CA81562729	485	M>T		No	ClinGen Ensembl
rs1382679419 CA353769487	485	M>V		No	ClinGen gnomAD
rs75322072 RCV000973343 CA2544173	486	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA353769468 rs1232530929	488	T>A		No	ClinGen gnomAD
rs1377715384 CA353769450	491	D>N		No	ClinGen TOPMed
CA2544153 rs138169971	492	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2544154 rs138169971	492	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2544150 rs372493912	494	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2544152 rs372493912	494	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs372493912 CA2544151	494	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1464188431 CA353769414	495	R>*		No	ClinGen gnomAD
CA2544149 rs150348327	495	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1194396428 CA545535439	497	Y>*		No	ClinGen gnomAD
CA2544148 rs772369484	497	Y>H		No	ClinGen ExAC gnomAD
rs1477779249 CA353769392	498	D>A		No	ClinGen gnomAD
rs774780028 CA2544146	500	A>P		No	ClinGen ExAC gnomAD
rs1478190368 CA353769270	506	A>D		No	ClinGen gnomAD
CA353769276 rs1196017684	506	A>T		No	ClinGen gnomAD
CA353769260 rs1256820198	507	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs768798883 CA2544145	507	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA2544142 rs576934632	511	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777596014 CA2544140	512	Q>R		No	ClinGen ExAC gnomAD
CA353769139 rs1340621539	514	G>D		No	ClinGen gnomAD
CA353769116 rs1393968323	516	A>S		No	ClinGen gnomAD
rs1177541435 CA353769100	517	L>F		No	ClinGen TOPMed
rs758198179 CA2544139	517	L>P		No	ClinGen ExAC gnomAD
rs374416374 CA81562463	521	P>H		No	ClinGen ESP gnomAD
CA81562468 rs924710708	521	P>T		No	ClinGen TOPMed gnomAD
CA2544138 rs752337230	522	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2544137 rs558551986 COSM1036475	522	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2544135 rs753380250	523	M>L		No	ClinGen ExAC TOPMed gnomAD
CA2544134 rs766825874	523	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs753380250 CA2544136	523	M>V		No	ClinGen ExAC TOPMed gnomAD
rs528706637 CA2544107	525	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1237914296 CA353767128	526	F>L		No	ClinGen gnomAD
CA353767110 rs1232677679	526	F>L		No	ClinGen TOPMed
CA2544106 rs763233402	527	T>A		No	ClinGen ExAC TOPMed gnomAD
rs148313437 CA2544103	529	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs769900759 CA2544104	529	A>T		No	ClinGen ExAC gnomAD
CA2544102 rs143296841	532	I>V		No	ClinGen ESP ExAC gnomAD
CA81561335 rs959744681	533	V>A		No	ClinGen TOPMed gnomAD
rs77501585 CA2544100	534	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77501585 CA2544101	534	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353766870 rs1391585063	534	G>R		No	ClinGen gnomAD
rs778660581 CA2544099	536	E>Q		No	ClinGen ExAC gnomAD
rs1422026630 CA353766748	538	G>R		No	ClinGen gnomAD
CA353766734 rs1159698573	539	V>I		No	ClinGen TOPMed gnomAD
rs1454109541 CA353766705	540	V>F		No	ClinGen TOPMed gnomAD
CA353766709 rs1454109541	540	V>I		No	ClinGen TOPMed gnomAD
COSM1036474 rs770278619 CA2544098	541	R>*	endometrium Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA81561317 rs373132679	541	R>P		No	ClinGen ESP ExAC gnomAD
rs373132679 CA2544097	541	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA2544096 rs779631389	542	I>T		No	ClinGen ExAC gnomAD
CA353766688 rs1267484763	542	I>V		No	ClinGen gnomAD
CA353766639 rs1487145082	545	L>F		No	ClinGen TOPMed gnomAD
CA353766642 rs1487145082	545	L>I		No	ClinGen TOPMed gnomAD
rs369907197 CA2544095	548	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA353766553 rs147661037	550	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs147661037 CA353766549	550	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA353766565 rs1272818598	550	G>R		No	ClinGen gnomAD
rs147661037 CA2544094	550	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA81561299 rs112734753	551	L>P		No	ClinGen Ensembl
CA2544093 COSM1036473 rs781687661	552	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752149726 CA2544091	554	F>C		No	ClinGen ExAC gnomAD
CA2544090 COSM1495326 rs145391746	555	A>V	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2544087 rs759624707	557	R>L		No	ClinGen ExAC TOPMed gnomAD
rs759624707 CA2544086	557	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2544088 rs113101974 COSM176703	557	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs979503241 CA81561261	561	L>W		No	ClinGen TOPMed
rs766498797 CA2544084	562	D>E		No	ClinGen ExAC gnomAD
CA2544085 rs776599988	562	D>G		No	ClinGen ExAC gnomAD
rs1293418099 CA353766259	564	D>E		No	ClinGen TOPMed
rs768428865 CA353766197 CA2544081	566	Q>H		No	ClinGen ExAC gnomAD
CA2544080 rs749095455	567	L>F		No	ClinGen ExAC gnomAD
CA2544079 rs775168907	568	K>R		No	ClinGen ExAC gnomAD
rs545460396 CA2544078	569	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA353766148 rs1341189776	569	Q>P		No	ClinGen TOPMed
rs373887851 CA2544076	572	K>N		No	ClinGen ESP ExAC gnomAD
CA81561223 rs796709291	573	P>S		No	ClinGen Ensembl
CA2544075 rs756892179	575	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1251529114 CA353765935	576	A>G		No	ClinGen gnomAD
CA2544074 rs747502899	576	A>P		No	ClinGen ExAC gnomAD
CA353765937 rs747502899	576	A>S		No	ClinGen ExAC gnomAD
rs1209038161 CA353765890	578	V>F		No	ClinGen TOPMed
CA81561204 rs201194900	579	T>I		No	ClinGen gnomAD
rs758765401 CA2544072	581	L>V		No	ClinGen ExAC gnomAD
rs578059192 CA2544070 COSM479227	585	R>C	kidney Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1336635772 CA353765694	585	R>H		No	ClinGen TOPMed gnomAD
CA353765679 rs754131517	586	D>G		No	ClinGen ExAC TOPMed gnomAD
rs755136363 CA2544069	586	D>N		No	ClinGen ExAC gnomAD
CA2544068 rs754131517	586	D>V		No	ClinGen ExAC TOPMed gnomAD
rs766443560 CA2544067	589	I>F		No	ClinGen ExAC gnomAD
rs760803051 CA2544066	589	I>S		No	ClinGen ExAC gnomAD
CA2544062 rs775124777	592	T>R		No	ClinGen ExAC gnomAD
CA353765350 rs1337102448	594	S>I		No	ClinGen gnomAD
rs934311611 CA81560873	597	Q>K		No	ClinGen TOPMed gnomAD
CA81560861 rs955025967	597	Q>L		No	ClinGen gnomAD
rs145870771 CA353765197	600	F>S		No	ClinGen ESP ExAC gnomAD
rs145870771 CA2544039	600	F>Y		No	ClinGen ESP ExAC gnomAD
rs771654723 CA353765049	606	R>K		No	ClinGen ExAC TOPMed gnomAD
rs771654723 CA2544038	606	R>M		No	ClinGen ExAC TOPMed gnomAD
rs1378021946 CA353764982	608	Y>F		No	ClinGen gnomAD
CA2544035 rs768460266	610	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2544036 rs779532800	610	P>T		No	ClinGen ExAC gnomAD
rs780209905 CA2544033	611	I>T		No	ClinGen ExAC
CA2544032 rs573835573	613	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2544030 rs781242084	614	I>V		No	ClinGen ExAC gnomAD
CA353764728 rs1266281929	617	P>S		No	ClinGen TOPMed
rs1156389824 CA353764662	619	P>L		No	ClinGen gnomAD
CA2544029 rs757413676	621	C>R		No	ClinGen ExAC gnomAD
CA353764589 rs1328650509	622	Q>L		No	ClinGen TOPMed
CA2544028 rs368080560	624	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1179081501 CA353764533	624	M>T		No	ClinGen gnomAD
CA2544027 rs765222593	625	W>R		No	ClinGen ExAC gnomAD
CA353764339 rs1425152323	628	M>I		No	ClinGen gnomAD
CA2544026 rs561829967	628	M>K		No	ClinGen 1000Genomes ExAC gnomAD
rs561829967 CA353764360	628	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs747140119 CA2544010	631	P>L		No	ClinGen ExAC gnomAD
CA353757763 rs1365033522	632	E>G		No	ClinGen TOPMed
rs911818337 CA81551997	633	S>I		No	ClinGen TOPMed gnomAD
rs986421150 CA81551975	634	T>S		No	ClinGen TOPMed
CA353757556 rs1316792659	638	I>N		No	ClinGen gnomAD
rs1275726160 CA353757507	639	C>Y		No	ClinGen gnomAD
CA353757427 rs1329760729	641	N>D		No	ClinGen TOPMed
CA2544009 rs199927736	643	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2544008 rs754924799	644	I>V		No	ClinGen ExAC TOPMed gnomAD
CA353757332 rs1576581319	645	L>I		No	ClinGen Ensembl
CA353757300 rs1445551308	646	E>D		No	ClinGen gnomAD
rs766274876 CA2544006	648	P>L		No	ClinGen ExAC gnomAD
CA2544007 rs753871519	648	P>S		No	ClinGen ExAC gnomAD
rs756034722 CA2544005	649	L>F		No	ClinGen ExAC TOPMed gnomAD
CA81551939 rs888052490	651	T>A		No	ClinGen Ensembl
CA353757137 rs1421627843	651	T>I		No	ClinGen TOPMed gnomAD
CA353757144 rs1421627843	651	T>N		No	ClinGen TOPMed gnomAD
rs1172875796 CA353757127	652	I>M		No	ClinGen gnomAD
rs1255727765 CA353757010	655	E>G		No	ClinGen TOPMed gnomAD
CA353757009 rs1255727765	655	E>V		No	ClinGen TOPMed gnomAD
rs1238374470 CA353756932	658	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750039859 CA2544004	658	D>G		No	ClinGen ExAC gnomAD
CA2544002 rs761190030	660	D>G		No	ClinGen ExAC gnomAD
rs929546923 CA81551875	661	V>I		No	ClinGen gnomAD
CA353756812 rs1219931680	662	V>I		No	ClinGen TOPMed gnomAD
rs1307500933 CA353756763	663	S>F		No	ClinGen gnomAD
CA2544001 rs773934833	664	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2543999 rs923465117	669	M>I		No	ClinGen Ensembl
CA81551859 COSM318288 rs1027877774	669	M>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs763552086 CA2543998	670	C>S		No	ClinGen ExAC gnomAD
CA81551826 rs139904178	671	I>L		No	ClinGen ESP
rs1337111693 CA353756529	672	K>E		No	ClinGen gnomAD
rs763446288 CA2543997	673	C>W		No	ClinGen ExAC TOPMed gnomAD
CA81551809 rs994904927	674	F>L		No	ClinGen TOPMed gnomAD
rs1333520744 CA353756430	675	H>R		No	ClinGen gnomAD
rs770085531 CA2543995	680	K>N		No	ClinGen ExAC gnomAD
CA2543994 rs373556696	682	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2543993 rs776675459	683	I>F		No	ClinGen ExAC gnomAD
rs1408783711 CA353755821	689	I>T		No	ClinGen gnomAD
COSM727195 CA353755759 rs1489294283	692	R>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2543975 rs777028574	695	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs771243266 CA2543974	696	R>K		No	ClinGen ExAC
rs770053618 CA81550199	696	R>S		No	ClinGen Ensembl
CA2543972 rs568793410	697	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA353755575 rs1287856780	699	K>R		No	ClinGen TOPMed gnomAD
rs772223437 CA2543970	701	K>E		No	ClinGen ExAC gnomAD
CA353755479 rs1299369942	703	R>S		No	ClinGen gnomAD
CA353755320 rs1443584639	707	R>G		No	ClinGen TOPMed
CA353755266 rs1213022461	708	N>S		No	ClinGen TOPMed
CA353755180 rs1297846337	711	A>E		No	ClinGen TOPMed gnomAD
rs780101411 CA2543967	711	A>S		No	ClinGen ExAC gnomAD
CA353755177 rs1297846337	711	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs769875510 CA2543966	712	A>T		No	ClinGen ExAC gnomAD
CA2543965 rs745843246	712	A>V		No	ClinGen ExAC TOPMed gnomAD
CA353755103 rs1159485862	714	M>L		No	ClinGen gnomAD
rs370563038 CA2543964	716	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA353754934 rs1376421002	718	G>A		No	ClinGen gnomAD
rs932047342 CA81550066	719	E>K		No	ClinGen Ensembl
CA353754858 rs1427367319	720	K>E		No	ClinGen TOPMed
rs757860294 CA2543961	720	K>R		No	ClinGen ExAC TOPMed gnomAD
rs757860294 CA2543960	720	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1192539668 CA353754787	721	E>*		No	ClinGen gnomAD
CA353754786 rs1158439358	721	E>V		No	ClinGen TOPMed
COSM3800905 rs1344589180 CA353754733	723	Q>*	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs532080675 CA81550017	733	E>K		No	ClinGen 1000Genomes
CA81549985 rs979161506	736	E>A		No	ClinGen gnomAD
rs752224552 CA2543957	736	E>K		No	ClinGen ExAC gnomAD
CA2543954 rs368620724	740	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2543955 rs368620724	740	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA353754114 rs368620724	740	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA353753986 rs564617333	743	F>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2543953 rs564617333	743	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2543952 rs766757460	744	I>L		No	ClinGen ExAC gnomAD
CA2543951 rs58988763	745	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs58988763 CA353753930	745	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA81549942 rs987477229	747	T>I		No	ClinGen TOPMed gnomAD
rs1282912410 CA353753787	750	P>S		No	ClinGen TOPMed
CA2543947 rs761936996	754	G>R		No	ClinGen ExAC gnomAD
rs1559929593 CA353753667	755	F>S		No	ClinGen Ensembl
rs1253773461 CA353753642	756	Y>C		No	ClinGen gnomAD
rs774550904 CA2543946	756	Y>H		No	ClinGen ExAC gnomAD
CA353753602 rs1461693119	757	S>*		No	ClinGen gnomAD
CA2543944 rs745804855	758	E>G		No	ClinGen ExAC gnomAD
rs202129117 CA2543941	759	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202129117 CA2543942	759	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777352698 CA2543940	760	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2543928 COSM1738924 rs764209469	768	G>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA353751661 rs1376556143	769	Y>C		No	ClinGen gnomAD
rs747011698 CA2543924	775	Y>C		No	ClinGen ExAC gnomAD
CA2543923 rs139880676	776	H>Y		No	ClinGen ESP ExAC gnomAD
CA2543922 rs566426150	777	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs747787988 CA2543921	779	F>I		No	ClinGen ExAC TOPMed gnomAD
rs747787988 CA81545311	779	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2543920 RCV000883121 rs150695313	779	F>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747787988 CA353751595	779	F>V		No	ClinGen ExAC TOPMed gnomAD
CA353751588 rs1216512835	780	P>S		No	ClinGen TOPMed
rs748784041 CA2543917	782	C>Y		No	ClinGen ExAC gnomAD
rs756556223 CA2543915	784	E>K		No	ClinGen ExAC gnomAD
rs751009539 CA2543914	785	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1036377563 CA81545285	786	S>G		No	ClinGen Ensembl
CA353751539 rs1223446737	787	D>G		No	ClinGen gnomAD
rs767990330 CA2543913	787	D>N		No	ClinGen ExAC TOPMed gnomAD
CA353751515 rs1284286614	790	E>A		No	ClinGen gnomAD
CA2543911 rs751763628	792	K>E		No	ClinGen ExAC gnomAD
rs944680038 CA81545242	795	P>R		No	ClinGen TOPMed
CA2543910 rs764253346	795	P>T		No	ClinGen ExAC gnomAD
COSM3780628 rs878974072 CA81545240	796	I>V	pancreas [Cosmic]	No	ClinGen cosmic curated Ensembl
rs763039505 CA2543909	799	R>C		No	ClinGen ExAC gnomAD
CA353751411 rs1164485440	800	Y>C		No	ClinGen TOPMed gnomAD
rs1424616516 CA353751396	801	L>F		No	ClinGen TOPMed
rs377623503 CA2543906	802	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2543905 rs377623503	802	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1424595570 CA353751368	803	D>G		No	ClinGen TOPMed
CA81545224 rs374878125	806	D>N		No	ClinGen Ensembl
CA353751304 rs1402445876	807	N>I		No	ClinGen gnomAD
CA2543902 rs773957337	807	N>Y		No	ClinGen ExAC gnomAD
CA81545189 rs912714841	808	P>R		No	ClinGen TOPMed gnomAD
rs749018450 CA2543900	808	P>T		No	ClinGen ExAC gnomAD
CA353751254 rs1200471708	811	T>A		No	ClinGen gnomAD
CA81545181 rs562228727	812	I>T		No	ClinGen 1000Genomes
rs1488075289 CA353751245	812	I>V		No	ClinGen gnomAD
rs1237223487 CA353750689	817	N>K		No	ClinGen gnomAD
rs762510645 CA2543881	819	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2543879 rs747921809	820	M>T		No	ClinGen ExAC gnomAD
CA2543880 rs74521061	820	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1293026488 CA353750636	821	M>I		No	ClinGen gnomAD
CA353750642 rs1316686891	821	M>K		No	ClinGen gnomAD
rs1223599631 CA353750645	821	M>V		No	ClinGen gnomAD
rs745401233 CA2543878	826	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2543877 rs781745833	827	N>S		No	ClinGen ExAC gnomAD
rs771542371 CA2543876	829	A>E		No	ClinGen ExAC gnomAD
rs1450437694 CA353750504 COSM3845851	831	R>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs747556063 CA2543875	831	R>Q		No	ClinGen ExAC gnomAD
rs1341619614 CA353750475	833	Y>*		No	ClinGen TOPMed gnomAD
rs562778436 CA2543874	833	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1465175977 CA353750469	834	V>I		No	ClinGen gnomAD
rs758851970 CA2543873	836	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1177206008 CA353750433	837	Q>E		No	ClinGen TOPMed
rs752808122 CA2543872	839	D>V		No	ClinGen ExAC gnomAD
CA2543871 rs779202601	844	S>N		No	ClinGen ExAC gnomAD
CA2543870 rs755015228	847	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA353750244 COSM1566342 rs1451881403	849	W>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1204091813 CA353750220	851	F>I		No	ClinGen TOPMed
rs1204091813 CA353750219	851	F>L		No	ClinGen TOPMed
CA2543869 rs377185040	852	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs761708225 CA2543867 CA2543866	853	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1456955700 CA353750071	856	N>S		No	ClinGen gnomAD
CA2543864 rs763784285	860	C>Y		No	ClinGen ExAC gnomAD
CA2543863 rs138579167	861	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs868078362 CA81537734	862	K>E		No	ClinGen gnomAD
rs868078362 CA353749986	862	K>Q		No	ClinGen gnomAD
CA353749922 rs1243500760	865	A>S		No	ClinGen gnomAD
rs369288050 CA2543862	867	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2543861 rs769592524	871	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2543860 rs150147481	871	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA353749740 rs1299945294	876	A>T		No	ClinGen gnomAD
CA2543858 rs770628705	877	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1284729820 CA353749645	880	G>A		No	ClinGen TOPMed
CA353749630 rs1349511378	881	N>I		No	ClinGen TOPMed gnomAD
rs1349511378 CA353749628	881	N>S		No	ClinGen TOPMed gnomAD
rs1046441796 CA81537694	882	I>N		No	ClinGen Ensembl
CA2543857 rs747503079	883	F>L		No	ClinGen ExAC gnomAD
CA353749568 rs1166900031	884	V>F		No	ClinGen Ensembl
CA353749487 rs1426974936	888	F>I		No	ClinGen gnomAD
rs948958329 CA81537681	890	E>K		No	ClinGen Ensembl
rs1477986630 CA353749375	892	M>I		No	ClinGen TOPMed
CA2543855 rs142426658	892	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2543852 rs147025470	895	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368604740 CA353749262	897	M>L		No	ClinGen ESP TOPMed gnomAD
rs1421639717 CA353749260	897	M>R		No	ClinGen TOPMed
CA81537657 rs368604740	897	M>V		No	ClinGen ESP TOPMed gnomAD
rs1348111702 CA353749192	899	A>S		No	ClinGen TOPMed
CA81537654 rs913936342	901	V>L		No	ClinGen TOPMed
CA2543850 rs200691785	902	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2543849 rs780103861	905	R>K		No	ClinGen ExAC gnomAD
rs1239397487 CA353749058	905	R>S		No	ClinGen gnomAD
rs780270435 CA2543827	907	G>E		No	ClinGen ExAC gnomAD
rs756145439 COSM1535898 CA2543826	909	E>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA81535795 rs918690763	910	T>A		No	ClinGen Ensembl
rs745980541 CA2543825	910	T>R		No	ClinGen ExAC gnomAD
rs1041127269 CA81535774	913	I>S		No	ClinGen Ensembl
rs534960129 CA2543824	914	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1173616626 CA353748168	915	E>Q		No	ClinGen gnomAD
CA353748112 rs1372708091	916	D>G		No	ClinGen TOPMed
CA2543822 rs765106804	917	I>S		No	ClinGen ExAC gnomAD
CA2543821 rs765106804	917	I>T		No	ClinGen ExAC gnomAD
CA2543823 rs758325441	917	I>V		No	ClinGen ExAC gnomAD
CA353748001 rs1191968257	920	P>R		No	ClinGen gnomAD
rs1278371811 CA353748005	920	P>T		No	ClinGen TOPMed
rs931165116 CA81535750	923	Y>H		No	ClinGen TOPMed gnomAD
rs780047666 CA2543801	926	E>D		No	ClinGen ExAC gnomAD
CA2543802 rs753711694	926	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750110286 CA2543799	930	R>K		No	ClinGen ExAC TOPMed gnomAD
rs536813623 CA81535590	933	E>G		No	ClinGen 1000Genomes
CA353747573 rs1380963637	933	E>K		No	ClinGen gnomAD
rs767041703 CA2543798	934	H>L		No	ClinGen ExAC gnomAD
CA353747538 rs767041703	934	H>P		No	ClinGen ExAC gnomAD
rs1453958978 CA353747532	934	H>Q		No	ClinGen gnomAD
CA353747491 rs1327587867	936	K>N		No	ClinGen gnomAD
CA2543797 rs761245186	936	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1295441490 CA353747436	939	K>E		No	ClinGen TOPMed
CA2543796 rs751999264	940	E>G		No	ClinGen ExAC gnomAD
CA353747375 rs1337725438	941	V>A		No	ClinGen TOPMed
rs764605360 CA2543794	942	G>A		No	ClinGen ExAC gnomAD
rs959975104 CA81535519	943	E>K		No	ClinGen Ensembl
rs1214166536 CA353747340	944	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs763499350 CA2543793	945	K>E		No	ClinGen ExAC TOPMed gnomAD
CA2543792 rs375694168	946	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA353747290 rs1176086840	946	A>V		No	ClinGen gnomAD
RCV000922204 rs151318445 CA2543790 COSM1036466	947	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2543791 rs141547615	947	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2543788 rs770973736	950	E>A		No	ClinGen ExAC TOPMed
CA353747172 rs1369927129	951	Q>H		No	ClinGen TOPMed
CA353747115 rs1179742994	954	A>G		No	ClinGen gnomAD
rs994436015 CA81535462	954	A>T		No	ClinGen Ensembl
rs1559924083 CA353747109	955	L>S		No	ClinGen Ensembl
CA353747080 rs1167001428	956	R>M		No	ClinGen TOPMed
CA2543786 rs778948456	957	S>G		No	ClinGen ExAC gnomAD
rs1251531072 CA353747037	957	S>R		No	ClinGen gnomAD
CA353746887 rs370484707	963	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1375390173 CA353746857	964	E>A		No	ClinGen TOPMed
CA2543782 rs755921587	965	M>V		No	ClinGen ExAC gnomAD
CA353746784 rs1315225690	967	E>G		No	ClinGen TOPMed
rs1415886437 CA353746788	967	E>K		No	ClinGen TOPMed
rs750035941 CA2543781	970	P>A		No	ClinGen ExAC gnomAD
rs1278226585 CA353746613	974	Q>*		No	ClinGen gnomAD
rs780714903 CA2543780	977	R>*		No	ClinGen ExAC gnomAD
CA2543778 rs751044546	977	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2543779 rs751044546	977	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA353745976 rs1343247478	979	D>G		No	ClinGen TOPMed gnomAD
CA353745950 rs1304508445	983	D>N		No	ClinGen TOPMed gnomAD
CA353745939 rs1257100802	984	S>F		No	ClinGen gnomAD
rs1436945878 CA353745941	984	S>P		No	ClinGen gnomAD
rs866863700 CA81531550	985	Q>*		No	ClinGen Ensembl
rs1344336339 CA353745924	986	I>T		No	ClinGen TOPMed gnomAD
rs570876610 CA2543768	987	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA81531547 rs901205897	987	R>H		No	ClinGen TOPMed
CA81531535 rs901205897	987	R>L		No	ClinGen TOPMed
CA353745914 rs1480816835	988	A>V		No	ClinGen TOPMed
CA353745913 rs1382838340	989	E>K		No	ClinGen TOPMed
rs1385835729 CA353745899	990	M>I		No	ClinGen gnomAD
CA353745891 rs1175796291	991	H>R		No	ClinGen TOPMed gnomAD
rs562885824 CA2543767	997	K>R		No	ClinGen ExAC gnomAD
rs562885824 CA353745849	997	K>T		No	ClinGen ExAC gnomAD
CA353745822 rs1280992443	1001	V>M		No	ClinGen TOPMed
CA353745754 rs1344425128	1010	E>K		No	ClinGen TOPMed
rs77865517 CA353745732	1012	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs534192528 CA81531495	1014	L>R		No	ClinGen 1000Genomes gnomAD
rs1220656674 CA353745675	1021	N>D		No	ClinGen TOPMed
rs770599155 CA81531464	1022	R>*		No	ClinGen Ensembl
CA353745664 rs1284829824	1022	R>L		No	ClinGen gnomAD
CA353745666 rs1284829824	1022	R>Q		No	ClinGen gnomAD
CA81555962 rs921491856	1024	R>*		No	ClinGen TOPMed
CA2543757 rs539317195	1024	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353783432 rs1264426463	1025	D>V		No	ClinGen gnomAD
rs571783515 CA81555958	1028	E>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs765691560 CA2543756	1028	E>K		No	ClinGen ExAC gnomAD
rs1314335359 CA353783372	1030	D>G		No	ClinGen TOPMed gnomAD
rs1010047216 CA81555949	1031	T>I		No	ClinGen TOPMed
rs1010047216 CA81555950	1031	T>N		No	ClinGen TOPMed
CA353783356 rs1454718919	1032	I>V		No	ClinGen TOPMed
rs1482584454 CA353783336	1033	V>A		No	ClinGen TOPMed gnomAD
CA353783343 rs1450323516	1033	V>M		No	ClinGen gnomAD
rs1441836618 CA353783309	1037	I>V		No	ClinGen gnomAD
rs1284152393 CA353783300	1038	L>P		No	ClinGen TOPMed
CA353783299 rs1284152393	1038	L>R		No	ClinGen TOPMed
rs755319151 CA2543755	1040	D>N		No	ClinGen ExAC gnomAD
rs1430826982 CA353783280	1041	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353783271 rs1162267468	1042	K>R		No	ClinGen gnomAD
TCGA novel	1044	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA81555942 rs891646822	1045	S>F		No	ClinGen TOPMed gnomAD
CA353783239 rs1181945468	1047	R>K		No	ClinGen gnomAD
rs200395263 CA2543754	1049	V>G		No	ClinGen ExAC gnomAD
CA81555928 rs1015599574	1049	V>L		No	ClinGen TOPMed gnomAD
rs1015599574 CA353783229	1049	V>M		No	ClinGen TOPMed gnomAD
rs760977397 CA2543752	1050	Q>E		No	ClinGen ExAC gnomAD
rs760977397 CA2543753	1050	Q>K		No	ClinGen ExAC gnomAD
rs1576558695 CA353783224	1050	Q>R		No	ClinGen Ensembl
CA2543751 rs773631063	1052	S>P		No	ClinGen ExAC gnomAD
CA353783194 rs1239625877	1054	Y>*		No	ClinGen TOPMed
rs767648143 CA2543750	1056	K>Q		No	ClinGen ExAC
TCGA novel	1056	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243755018 CA353783170	1058	K>E		No	ClinGen gnomAD
rs1262272674 CA353783163	1059	R>G		No	ClinGen TOPMed
RCV000946755 CA2543749 rs116266837	1059	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA353783156 rs971875145	1060	A>D		No	ClinGen TOPMed gnomAD
rs971875145 CA81555896	1060	A>V		No	ClinGen TOPMed gnomAD
CA81555866 rs371742264	1061	S>G		No	ClinGen ESP TOPMed
CA353783146 rs1390904014	1062	Q>E		No	ClinGen TOPMed gnomAD
CA353783122 rs1420211735	1065	R>T		No	ClinGen TOPMed
CA81555851 rs1013811026	1069	K>E		No	ClinGen TOPMed
CA81555837 rs139756640	1070	L>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs775459825 CA2543748	1071	D>E		No	ClinGen ExAC gnomAD
CA353783083 rs1304027926	1071	D>H		No	ClinGen TOPMed
rs1301672784 CA353783076	1072	R>G		No	ClinGen gnomAD
CA81555822 rs1000738498	1073	F>L		No	ClinGen TOPMed gnomAD
rs903820672 CA81555818	1076	E>Q		No	ClinGen TOPMed
CA81555815 rs1042030426	1077	G>E		No	ClinGen TOPMed
CA353783037 rs1369565646	1077	G>R		No	ClinGen gnomAD
CA353782998 rs1158957706	1083	S>G		No	ClinGen gnomAD
rs1559917769 CA353782996	1083	S>T		No	ClinGen Ensembl
rs1405126764 CA353782987	1084	Q>R		No	ClinGen gnomAD
CA353782971 rs1178629644	1086	D>V		No	ClinGen gnomAD
TCGA novel	1087	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755770345 CA2543746	1087	A>E		No	ClinGen ExAC gnomAD
CA353782967 rs927330957	1087	A>S		No	ClinGen TOPMed
CA81555807 rs927330957	1087	A>T		No	ClinGen TOPMed
rs1452239048 CA353782948	1088	G>A		No	ClinGen gnomAD
rs1006738984 CA81553977	1089	G>A		No	ClinGen TOPMed gnomAD
rs1006738984 CA81553976	1089	G>V		No	ClinGen TOPMed gnomAD
CA353782934 rs1160731933	1091	V>I		No	ClinGen gnomAD
CA353782922 rs1576557166	1093	I>L		No	ClinGen Ensembl
rs1242806465 CA353782916	1093	I>M		No	ClinGen TOPMed
CA81553971 rs185066981	1094	Q>K		No	ClinGen 1000Genomes gnomAD
CA353782912 rs1559916861	1094	Q>R		No	ClinGen Ensembl
CA353782901 rs1228855117	1096	E>K		No	ClinGen TOPMed
rs1006314429 CA81553960	1098	I>V		No	ClinGen TOPMed gnomAD
CA353782876 rs1434718016	1099	I>T		No	ClinGen gnomAD
rs1267748116 CA353782859	1101	K>N		No	ClinGen gnomAD
TCGA novel	1102	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747633181 CA2543739	1103	K>E		No	ClinGen ExAC
CA353782841 rs1204535452	1104	K>R		No	ClinGen gnomAD
rs1576557134 CA353782833	1105	F>S		No	ClinGen Ensembl
CA81553951 rs935423492	1106	R>Q		No	ClinGen TOPMed gnomAD
CA2543737 rs755410376	1106	R>W		No	ClinGen ExAC TOPMed gnomAD
rs902595229 CA81553950	1107	P>L		No	ClinGen Ensembl
rs1322853658 CA353782811	1109	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	1109	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2543736 rs754435998	1109	T>S		No	ClinGen ExAC gnomAD
rs994045386 CA81553940	1112	E>K		No	ClinGen TOPMed gnomAD
CA353782795 rs994045386	1112	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	1114	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756565220 CA2543734	1115	V>M		No	ClinGen ExAC TOPMed gnomAD
rs757125153 CA81553927	1119	I>T		No	ClinGen TOPMed gnomAD
CA353782664 rs1381091072	1122	T>M		No	ClinGen gnomAD
rs1321738945 CA353782651	1123	R>T		No	ClinGen gnomAD
CA2543732 rs767886067	1124	K>I		No	ClinGen ExAC TOPMed gnomAD
rs991086175 CA81553897	1126	I>M		No	ClinGen TOPMed gnomAD
CA81553909 rs916861325	1126	I>T		No	ClinGen TOPMed gnomAD
CA353782599 rs1173860683	1128	K>E		No	ClinGen gnomAD
rs1467240223 CA353782579	1129	A>V		No	ClinGen gnomAD
CA81553893 rs942230746	1130	E>G		No	ClinGen TOPMed gnomAD
CA353782560 rs1171845821	1131	R>T		No	ClinGen TOPMed
CA353782545 rs1576557089	1132	A>G		No	ClinGen Ensembl
rs1378049513 CA353782537	1133	Q>R		No	ClinGen gnomAD
rs983578866 CA81553888	1134	L>Q		No	ClinGen gnomAD
rs905536789 CA81553886	1136	I>T		No	ClinGen TOPMed
rs1460962283 CA353782487	1138	Q>K		No	ClinGen gnomAD
CA353782484 rs1394573613	1138	Q>R		No	ClinGen TOPMed
CA353782477 rs1202462026	1139	R>*		No	ClinGen TOPMed gnomAD
rs1345977528 CA353782472	1139	R>P		No	ClinGen TOPMed gnomAD
CA353782474 rs1345977528	1139	R>Q		No	ClinGen TOPMed gnomAD
rs947129972	1142	E>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs774261291 CA2543731	1143	W>*		No	ClinGen ExAC gnomAD
rs774261291 CA2543730	1143	W>L		No	ClinGen ExAC gnomAD
rs1258532601 CA353782426	1143	W>R		No	ClinGen TOPMed
rs145654409 CA81547278	1147	Y>F		No	ClinGen 1000Genomes TOPMed gnomAD
rs1174846322 CA353781235	1149	S>G		No	ClinGen TOPMed
rs917728990 CA81547258	1149	S>N		No	ClinGen TOPMed gnomAD
CA81547252 rs370719601	1150	K>T		No	ClinGen gnomAD
TCGA novel	1151	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353781203 rs1327813551	1152	G>R		No	ClinGen TOPMed gnomAD
CA353781167 rs1389297925	1155	Y>H		No	ClinGen gnomAD
CA81547251 rs533972961	1157	D>N		No	ClinGen TOPMed gnomAD
rs1576552765 CA353781132	1158	P>A		No	ClinGen Ensembl
CA353781117 rs1383325856	1160	D>V		No	ClinGen TOPMed gnomAD
rs992252202 CA81547248	1160	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	1164	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1166	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353781050 rs1164879813	1167	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	1168	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353781021 rs757909999	1169	V>L		No	ClinGen gnomAD
CA81547247 rs757909999	1169	V>M		No	ClinGen gnomAD
TCGA novel	1170	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2543712 rs189297861	1171	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353780969 rs1239228304	1173	D>N		No	ClinGen TOPMed
CA81547212 rs867374391	1179	A>T		No	ClinGen Ensembl
rs564686220 CA81547201	1180	P>S		No	ClinGen 1000Genomes
CA353780863 rs1222222051	1181	D>V		No	ClinGen gnomAD
CA81547178 rs1038265619	1181	D>Y		No	ClinGen Ensembl
CA81547177 rs985183256	1182	Y>C		No	ClinGen Ensembl
rs1292681081 CA353780819	1184	I>L		No	ClinGen gnomAD
CA353780801 rs61732431	1185	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA81547172 rs61732431	1185	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61732431 CA2543710	1185	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353780774 rs1278430099	1187	H>R		No	ClinGen gnomAD
rs1472924603 CA353780763	1188	M>K		No	ClinGen Ensembl
CA353780736 rs1226258961	1190	I>V		No	ClinGen TOPMed gnomAD
CA353780723 rs1351949853	1191	N>H		No	ClinGen gnomAD
CA81547148 rs370453892	1192	A>G		No	ClinGen ESP TOPMed
rs1179750865 CA353780690	1193	A>V		No	ClinGen TOPMed
CA353780686 rs1382561279	1194	K>E		No	ClinGen TOPMed
CA353780601 rs1288519357	1200	G>R		No	ClinGen gnomAD
CA353780210 rs1176039235	1206	V>A		No	ClinGen TOPMed gnomAD
rs906034486 CA81545275	1206	V>F		No	ClinGen Ensembl
rs1468417879 CA353780204	1207	H>R		No	ClinGen gnomAD
rs1192142118 CA353780198	1208	G>*		No	ClinGen gnomAD
rs1192142118 CA353780200	1208	G>R		No	ClinGen gnomAD
CA353780174 rs1240883987	1211	R>T		No	ClinGen gnomAD
rs1422181287 CA353780167	1212	H>R		No	ClinGen gnomAD
CA353780169 rs1465897154	1212	H>Y		No	ClinGen gnomAD
CA2543701 rs771923244	1215	K>Q		No	ClinGen ExAC gnomAD
rs567125447 CA81545236	1222	D>E		No	ClinGen 1000Genomes
TCGA novel	1224	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1009855041 CA81545229	1225	V>M		No	ClinGen TOPMed
rs79365690 CA2543698	1227	V>G		No	ClinGen ExAC gnomAD
rs1228722584 CA353779978	1228	V>A		No	ClinGen TOPMed
rs1437160706 CA353779922	1231	I>K		No	ClinGen gnomAD
rs748864899 CA2543697	1232	Q>L		No	ClinGen ExAC gnomAD
rs1576551372 CA353779856	1235	V>G		No	ClinGen Ensembl
rs1361124525 CA353779844	1236	Q>*		No	ClinGen TOPMed gnomAD
CA353779848 rs1361124525	1236	Q>K		No	ClinGen TOPMed gnomAD
CA353779811 rs1176991717	1238	L>V		No	ClinGen gnomAD
rs1210492710 CA353779776	1240	N>T		No	ClinGen TOPMed
rs187753788 CA81545160	1243	S>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs1203452557 CA353779711	1244	T>S		No	ClinGen TOPMed
rs191722617 CA353779700	1245	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs921359884 CA81545151	1245	L>P		No	ClinGen TOPMed
rs191722617 CA2543694	1245	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1390324255 CA353779672	1247	I>V		No	ClinGen gnomAD
CA353779639 rs1182450306	1249	K>T		No	ClinGen gnomAD
rs551083394 CA81545139	1251	I>V		No	ClinGen 1000Genomes
CA81545137 rs532485034	1252	P>A		No	ClinGen 1000Genomes
rs61732433 CA2543693 RCV000879955	1252	P>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs61732433 CA353779607	1252	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs983331226 CA81545099	1255	K>R		No	ClinGen TOPMed gnomAD
CA353779574 rs1230575366	1257	P>L		No	ClinGen gnomAD
CA353779566 rs1230604755	1258	Q>H		No	ClinGen TOPMed gnomAD
rs1369288534 CA353779540	1262	E>G		No	ClinGen TOPMed
CA353779544 rs1310436687	1262	E>Q		No	ClinGen TOPMed gnomAD
CA353779528 rs1559913639	1264	V>I		No	ClinGen Ensembl
CA2543691 rs751661226	1265	P>T		No	ClinGen ExAC TOPMed gnomAD
CA353779497 rs1381373466	1268	R>I		No	ClinGen gnomAD
TCGA novel	1270	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559913624 CA353779466	1272	D>G		No	ClinGen Ensembl
CA353779460 rs1237068017	1273	E>K		No	ClinGen TOPMed
CA353779441 rs1260249199	1275	T>I		No	ClinGen TOPMed
rs933228384 CA81545089	1278	N>S		No	ClinGen TOPMed gnomAD
rs1441727647 CA353779409	1280	K>M		No	ClinGen gnomAD
CA81545088 rs376106162	1282	Q>E		No	ClinGen ESP TOPMed gnomAD
rs1249782790 CA353779394	1282	Q>L		No	ClinGen TOPMed
CA353779391 rs1430728819	1283	Q>*		No	ClinGen TOPMed gnomAD
rs1430728819 CA353779390	1283	Q>K		No	ClinGen TOPMed gnomAD
CA353779373 rs1559913597	1285	K>E		No	ClinGen Ensembl
CA353779370 rs1163232278	1285	K>R		No	ClinGen gnomAD
rs6768642 CA2543689 CA2543688	1287	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA81545060 rs1033431555	1288	D>N		No	ClinGen TOPMed gnomAD
rs369048426 CA81545054	1293	G>R		No	ClinGen ESP TOPMed gnomAD
rs549000704 CA81545049	1294	V>A		No	ClinGen 1000Genomes
rs1440739706 CA353779312	1294	V>M		No	ClinGen TOPMed
TCGA novel	1296	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374693809 CA2543686	1297	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1299	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1373595956 CA353779274	1300	G>R		No	ClinGen TOPMed
rs1576551240 CA353779268	1301	G>S		No	ClinGen Ensembl
CA353779263 rs1290983807	1301	G>V		No	ClinGen gnomAD
rs1323637584 CA353779252	1303	V>A		No	ClinGen TOPMed gnomAD
rs1323637584 CA353779253	1303	V>D		No	ClinGen TOPMed gnomAD
CA81545010 rs769283030	1307	L>H		No	ClinGen Ensembl
CA81545009 rs956033549	1309	L>H		No	ClinGen gnomAD
CA81545006 rs1010214804	1310	S>Y		No	ClinGen TOPMed
CA353779201 rs1365300170	1312	R>G		No	ClinGen gnomAD
rs1351181136 CA353779187	1313	K>N		No	ClinGen gnomAD
CA353779190 rs1459886224	1313	K>R		No	ClinGen gnomAD
CA2543684 RCV000952837 rs187266046	1314	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1164866746 CA353779182	1314	D>G		No	ClinGen gnomAD
CA81544972 rs757834189	1317	L>F		No	ClinGen Ensembl
CA2543683 rs761674016	1318	T>I		No	ClinGen ExAC TOPMed gnomAD
CA353779149 rs1472816850	1319	T>I		No	ClinGen TOPMed gnomAD
rs1267895881 CA353779148	1320	R>C		No	ClinGen gnomAD
rs1267895881 CA353779147	1320	R>G		No	ClinGen gnomAD
CA81544958 rs183028814	1320	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs183028814 CA353779144	1320	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs970709691 CA81544950	1321	D>G		No	ClinGen TOPMed gnomAD
CA353779099 rs1265890808	1327	S>L		No	ClinGen gnomAD
rs780934613 CA81544945	1329	A>T		No	ClinGen Ensembl
CA353779080 rs1419209427	1330	S>L		No	ClinGen TOPMed
rs1215175283 CA353779078	1331	T>A		No	ClinGen TOPMed gnomAD
CA81544939 rs780632889	1331	T>I		No	ClinGen Ensembl
CA353779049 rs1327105172	1335	D>V		No	ClinGen gnomAD
CA2543682 rs773839968	1335	D>Y		No	ClinGen ExAC TOPMed
rs768381106 CA2543681	1338	K>R		No	ClinGen ExAC TOPMed gnomAD
rs996061648 CA353779025	1339	C>G		No	ClinGen TOPMed gnomAD
CA81544918 rs996061648	1339	C>R		No	ClinGen TOPMed gnomAD
rs996061648 CA353779026	1339	C>S		No	ClinGen TOPMed gnomAD
rs1299637810 CA353779016	1340	L>S		No	ClinGen TOPMed gnomAD
TCGA novel	1341	E>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs557264876 CA81544901	1345	A>T		No	ClinGen TOPMed gnomAD
CA2543680 rs762565803	1347	P>R		No	ClinGen ExAC gnomAD
rs996874456 CA81544885	1348	T>A		No	ClinGen TOPMed gnomAD
CA2543679 rs775111132	1348	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1232650115 CA353778922	1349	D>N		No	ClinGen TOPMed
rs1385763587 CA353778893	1350	V>A		No	ClinGen gnomAD
CA81544881 rs899885712	1351	E>K		No	ClinGen TOPMed gnomAD
CA353778805 rs1457434521	1355	M>T		No	ClinGen gnomAD
rs747556453 CA2543676	1358	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1173702979 CA353778747	1358	D>V		No	ClinGen TOPMed gnomAD
CA81544850 rs190795704 CA81544851	1363	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs190795704 CA2543675 RCV000915276	1363	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2543674 rs376179721	1365	M>I		No	ClinGen ExAC TOPMed gnomAD
rs370612403 CA81544842	1365	M>T		No	ClinGen TOPMed gnomAD
rs1189322519 CA353778631	1365	M>V		No	ClinGen TOPMed
CA2543673 rs778047955	1366	Q>R		No	ClinGen ExAC gnomAD
rs1254424676 CA353778589	1367	Q>R		No	ClinGen gnomAD
rs758614660 CA2543672	1368	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA353778579 rs1332206966	1368	Y>H		No	ClinGen gnomAD
rs1295544179 CA353778550	1369	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	1369	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2543671 rs748434148	1370	V>I		No	ClinGen ExAC TOPMed gnomAD
CA353778516 rs1362479978	1372	R>G		No	ClinGen TOPMed gnomAD
CA353778507 rs1321971894	1372	R>M		No	ClinGen gnomAD
TCGA novel	1373	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1402728567 CA353778051	1373	I>V		No	ClinGen gnomAD
CA353777999 rs1576549834	1376	L>Q		No	ClinGen Ensembl
CA353777990 rs1427518994	1377	V>F		No	ClinGen gnomAD
rs776954093 CA2543659	1380	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1169094537 CA353777927	1381	D>N		No	ClinGen TOPMed gnomAD
CA81542610 rs201122506	1382	A>S		No	ClinGen TOPMed gnomAD
rs201122506 CA81542611	1382	A>T		No	ClinGen TOPMed gnomAD
CA353777900 rs1366770043	1382	A>V		No	ClinGen gnomAD
rs1016754315 CA81542599	1385	R>C		No	ClinGen TOPMed gnomAD
CA81542600 rs1016754315	1385	R>G		No	ClinGen TOPMed gnomAD
rs965241639 CA81542589	1385	R>H		No	ClinGen TOPMed gnomAD
CA353777858 rs1484215550	1387	L>F		No	ClinGen TOPMed gnomAD
rs1295659847 CA353777855	1387	L>R		No	ClinGen TOPMed
TCGA novel	1388	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353777852 rs1364632794	1388	R>T		No	ClinGen TOPMed
CA2543655 rs772379684	1389	H>R		No	ClinGen ExAC gnomAD
CA81542572 rs985055399	1389	H>Y		No	ClinGen TOPMed
rs1271942917 CA353777840	1390	Q>E		No	ClinGen TOPMed
rs1576549789 CA353777838	1390	Q>R		No	ClinGen Ensembl
rs1209732808 CA353777824	1392	L>V		No	ClinGen gnomAD
CA353777789 rs1262330216	1397	Q>R		No	ClinGen TOPMed
rs1026690680 CA81542527	1398	M>L		No	ClinGen TOPMed
rs1205254267 CA353777774	1399	K>T		No	ClinGen TOPMed
rs1576549772 CA353777767	1400	L>S		No	ClinGen Ensembl
rs994303990 CA81542508	1400	L>V		No	ClinGen TOPMed gnomAD
rs564091262 CA2543653	1403	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs961180891 CA81542475	1411	E>*		No	ClinGen TOPMed gnomAD
TCGA novel	1414	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353777673 rs1295008510	1414	L>V		No	ClinGen Ensembl
CA81542463 rs561190033	1416	K>N		No	ClinGen TOPMed
CA81542456 rs998646619	1420	K>N		No	ClinGen Ensembl
rs1477348915 CA353777632	1420	K>Q		No	ClinGen TOPMed
rs1176305796 CA353777617	1422	E>K		No	ClinGen TOPMed
rs1308608231 CA353777603	1423	N>K		No	ClinGen gnomAD
CA81542446 rs1036237993	1424	I>T		No	ClinGen TOPMed gnomAD
CA81542445 rs901178318	1428	R>C		No	ClinGen TOPMed gnomAD
CA353777572 rs901178318	1428	R>G		No	ClinGen TOPMed gnomAD
CA81542443 rs1018690756	1428	R>H		No	ClinGen TOPMed gnomAD
CA353777570 rs1018690756	1428	R>L		No	ClinGen TOPMed gnomAD
rs1165081560 CA353777540	1433	D>Y		No	ClinGen gnomAD
rs1007175364 CA81542435	1434	K>R		No	ClinGen gnomAD
CA353777509 rs1162672900	1437	Q>*		No	ClinGen gnomAD
CA353777506 rs1198851442	1437	Q>H		No	ClinGen gnomAD
CA81542392 rs1003045979	1437	Q>R		No	ClinGen TOPMed gnomAD
CA353777489 rs1450398059	1439	M>I		No	ClinGen gnomAD
CA353777496 rs1559912578	1439	M>L		No	ClinGen Ensembl
rs1211134450 CA353777481	1440	Q>H		No	ClinGen gnomAD
rs906080795 CA81542386	1440	Q>R		No	ClinGen TOPMed gnomAD
rs200617587 CA2543645 RCV000923629	1441	W>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1402030288 CA353777441	1444	N>S		No	ClinGen TOPMed
TCGA novel	1445	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459010935 CA353777425	1446	T>S		No	ClinGen gnomAD
CA353777422 rs1413247380	1447	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	1449	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353777404 rs1277631086	1449	E>V		No	ClinGen gnomAD
CA2543644 rs761606549	1450	M>V		No	ClinGen ExAC TOPMed gnomAD
CA353777376 rs1248998914	1453	K>E		No	ClinGen gnomAD
rs1425902119 CA353777339	1457	I>M		No	ClinGen TOPMed
rs61732435 CA81541607	1458	T>A		No	ClinGen Ensembl
rs1200155213 CA353777336	1458	T>I		No	ClinGen gnomAD
CA353777332 rs1305474845	1459	K>E		No	ClinGen TOPMed
CA353777323 rs1468570681	1460	L>F		No	ClinGen TOPMed gnomAD
CA353777315 rs1206503982	1461	Q>R		No	ClinGen gnomAD
CA353777307 rs1330781509	1462	E>A		No	ClinGen gnomAD
CA81541576 rs895289000	1463	Q>R		No	ClinGen gnomAD
rs1280455537 CA353777279	1466	A>P		No	ClinGen TOPMed
rs1218455974 CA353777272	1467	L>F		No	ClinGen TOPMed gnomAD
CA81541560 rs1055480401	1467	L>P		No	ClinGen Ensembl
rs765000269 CA353777266	1468	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs765000269 CA2543643	1468	Y>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1472	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs576454657 CA2543642	1474	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1364622679 CA353777186	1475	I>T		No	ClinGen gnomAD
rs564476682 CA81541511	1476	G>E		No	ClinGen 1000Genomes
CA353777137 rs1318618691	1479	N>H		No	ClinGen gnomAD
rs1291945111 CA353777129	1479	N>S		No	ClinGen TOPMed
TCGA novel	1480	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195373753 CA353777096	1481	F>S		No	ClinGen Ensembl
rs1437292713 CA353777032	1485	L>V		No	ClinGen gnomAD
CA353777004 rs1333706302	1486	M>I		No	ClinGen gnomAD
rs1389686591 CA353777016	1486	M>V		No	ClinGen gnomAD
CA353776988 rs1413159761	1487	K>R		No	ClinGen gnomAD
rs1427668100 CA353776970	1488	V>A		No	ClinGen gnomAD
TCGA novel	1492	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA81541503 rs774046504	1493	I>N		No	ClinGen TOPMed gnomAD
rs1436085644 CA353776899	1493	I>V		No	ClinGen gnomAD
CA353776856 rs1186141920	1495	R>Q		No	ClinGen gnomAD
rs58191991 CA2543641 RCV000974402	1495	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1576549279 CA353776848	1496	V>I		No	ClinGen Ensembl
rs1242375646 CA353776831	1497	K>E		No	ClinGen gnomAD
rs898357906 CA81541469	1498	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	1502	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA81541460 rs368696742	1503	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2543640 rs368696742	1503	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA81521566 rs113293038	1506	D>V		No	ClinGen TOPMed
CA353774963 rs1482581936	1508	D>E		No	ClinGen TOPMed gnomAD
rs1314001256 CA353774968	1508	D>G		No	ClinGen gnomAD
rs1302118304 CA353774916	1512	E>G		No	ClinGen TOPMed gnomAD
rs1272439104 CA353774888	1516	E>*		No	ClinGen gnomAD
rs943477252 CA353774881	1517	E>K		No	ClinGen Ensembl
rs943477252 CA81521559	1517	E>Q		No	ClinGen Ensembl
CA81521558 rs549195861	1520	S>G		No	ClinGen 1000Genomes
CA81521545 rs910589729	1520	S>I		No	ClinGen TOPMed
CA81521552 rs910589729	1520	S>T		No	ClinGen TOPMed
CA353774841 rs1289230238	1523	S>G		No	ClinGen gnomAD
CA81521536 rs376193610	1525	E>K		No	ClinGen ESP TOPMed
CA353774804 rs1226607579	1527	E>D		No	ClinGen TOPMed gnomAD
CA81521513 rs1012361901	1527	E>G		No	ClinGen TOPMed
rs1381630363 CA353774788	1530	S>P		No	ClinGen gnomAD
rs1352607163 CA353774771	1532	D>G		No	ClinGen TOPMed
CA353774748 rs1348987012	1535	F>C		No	ClinGen gnomAD
CA353774741 rs1286139723	1536	D>G		No	ClinGen TOPMed
rs1310446786 CA353774744	1536	D>N		No	ClinGen gnomAD
CA353774737 rs1462933074	1537	D>N		No	ClinGen gnomAD
rs1354679670 CA353774726	1538	S>Y		No	ClinGen gnomAD
rs1163468969 CA353774722	1539	I>V		No	ClinGen TOPMed gnomAD
CA353774710 rs1403041312	1540	C>*		No	ClinGen gnomAD
rs1246159290 CA353774706	1541	P>S		No	ClinGen TOPMed
rs1188181439 CA353774698	1542	T>K		No	ClinGen gnomAD
CA353774700 rs1419611002	1542	T>S		No	ClinGen TOPMed gnomAD
CA353774165 rs1419398668	1544	C>F		No	ClinGen gnomAD
CA353774152 rs1266628585	1546	V>M		No	ClinGen TOPMed gnomAD
CA353774146 rs1034432508	1547	A>S		No	ClinGen TOPMed gnomAD
rs1034432508 CA81519831	1547	A>T		No	ClinGen TOPMed gnomAD
rs1333539185 CA353774141	1548	L>V		No	ClinGen TOPMed
TCGA novel	1550	E>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs576692190 CA2543625	1550	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA81519810 rs79285167	1552	A>S		No	ClinGen TOPMed
CA353774116 rs79285167	1552	A>T		No	ClinGen TOPMed
CA81519800 rs1001983335	1552	A>V		No	ClinGen TOPMed gnomAD
rs1463718510 CA353774112	1553	L>F		No	ClinGen gnomAD
rs749384603 CA2543624	1556	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs888438654 CA81519792	1556	R>Q		No	ClinGen TOPMed gnomAD
CA353774085 rs1311941972	1557	E>G		No	ClinGen gnomAD
CA353774088 rs1392894472	1557	E>Q		No	ClinGen gnomAD
rs558425706 CA2543623	1562	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA81519757 rs371784109	1563	E>Q		No	ClinGen Ensembl
rs1372624486 CA353774040	1564	E>K		No	ClinGen gnomAD
rs756427990 CA353774015	1567	V>A		No	ClinGen TOPMed gnomAD
rs756427990 CA81519723	1567	V>D		No	ClinGen TOPMed gnomAD
rs1290228908 CA353773983	1571	K>N		No	ClinGen gnomAD
CA81519721 rs897389534	1571	K>T		No	ClinGen TOPMed gnomAD
rs1576539045 CA353773960	1575	N>D		No	ClinGen Ensembl
rs1376835580 CA353773955	1575	N>K		No	ClinGen gnomAD
rs1374514611 CA353773943	1577	K>R		No	ClinGen TOPMed
CA353773939 rs1412156861	1578	K>Q		No	ClinGen TOPMed
CA353773935 rs1455529845	1578	K>R		No	ClinGen TOPMed gnomAD
CA353773884 rs1447682927	1581	D>E		No	ClinGen gnomAD
rs1188023000 CA353773896	1581	D>H		No	ClinGen TOPMed gnomAD
rs1576539025 CA353773873	1582	T>K		No	ClinGen Ensembl
rs1314304947 CA353773838	1584	S>*		No	ClinGen TOPMed
rs1483160623 CA353773831	1585	K>E		No	ClinGen gnomAD
CA353773825 rs1254624362	1585	K>R		No	ClinGen gnomAD
CA353773816 rs1212599240	1586	K>E		No	ClinGen gnomAD
rs1243925551 CA353773812	1586	K>T		No	ClinGen Ensembl
rs1227438081 CA353773660	1589	I>M		No	ClinGen gnomAD
CA2543619 rs768034781	1589	I>T		No	ClinGen ExAC gnomAD
rs1044245342 CA81518923	1590	V>M		No	ClinGen TOPMed
rs1339525135 CA353773593	1593	N>D		No	ClinGen gnomAD
CA353773570 rs1576538434	1594	L>V		No	ClinGen Ensembl
rs1416427264 CA353773537	1595	N>S		No	ClinGen gnomAD
TCGA novel	1595	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353773476 rs1355827713	1598	E>A		No	ClinGen gnomAD
CA81518905 rs931136726	1600	A>V		No	ClinGen TOPMed
rs1398459044 CA353773351	1603	A>S		No	ClinGen gnomAD
rs1398459044 CA353773356	1603	A>T		No	ClinGen gnomAD
CA81518859 rs937530340	1604	Y>C		No	ClinGen TOPMed gnomAD
CA353773270 rs570781310	1606	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs570781310 CA2543615	1606	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1559905647 CA353773222	1609	Q>R		No	ClinGen Ensembl
CA2543614 rs775576813	1611	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1576538410 CA353773166	1613	N>D		No	ClinGen Ensembl
CA2543613 rs191802371	1613	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1576538403 CA353773141	1614	E>K		No	ClinGen Ensembl
rs745952692 CA2543612	1617	V>I		No	ClinGen ExAC gnomAD
CA81518842 rs377017412	1620	P>L		No	ClinGen ESP TOPMed gnomAD
TCGA novel	1625	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2543609 rs748163260	1625	Q>R		No	ClinGen ExAC gnomAD
CA353772556 rs1280113982	1629	V>L		No	ClinGen gnomAD
rs1259917323 CA353772507	1631	F>S		No	ClinGen gnomAD
CA81518136 rs371937318	1635	P>T		No	ClinGen ESP TOPMed gnomAD
CA353772373 rs1368956721	1636	S>I		No	ClinGen gnomAD
rs557730278 CA81518124	1637	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1388213106 CA353772331	1639	S>P		No	ClinGen gnomAD
rs1318742867 CA353772317	1640	G>D		No	ClinGen gnomAD
CA353772309 rs1402852235	1641	T>A		No	ClinGen TOPMed gnomAD
rs1386108941 CA353772287	1643	V>L		No	ClinGen gnomAD
CA81518123 rs373838001	1648	A>P		No	ClinGen TOPMed gnomAD
CA353772195 rs1397362687	1650	R>G		No	ClinGen gnomAD
CA353772181 rs185086524	1651	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201245249 CA353772177	1651	R>L		No	ClinGen ExAC TOPMed gnomAD
rs201245249 CA2543600	1651	R>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000949899 CA2543601 rs185086524	1651	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2543599 rs750254918	1655	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2543598 rs568986662	1655	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1199598073 CA353772108	1657	H>D		No	ClinGen gnomAD
rs4682484 CA353772102	1657	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2543597 rs4682484	1657	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353772107 rs1199598073	1657	H>Y		No	ClinGen gnomAD
CA353772090 rs1305478639	1658	E>G		No	ClinGen TOPMed gnomAD
rs1164804131 CA353772004	1664	S>A		No	ClinGen gnomAD
rs1268692844 CA353771996	1665	K>Q		No	ClinGen gnomAD
CA353771968 rs1433146000	1666	Q>H		No	ClinGen TOPMed gnomAD
CA353771972 rs1161536921	1666	Q>R		No	ClinGen TOPMed
CA353771927 rs1345940561	1669	L>H		No	ClinGen gnomAD
CA353771906 rs1576537783	1671	K>E		No	ClinGen Ensembl
rs1457693668 CA353771892	1672	E>D		No	ClinGen TOPMed
rs1333932921 CA353771873	1675	E>K		No	ClinGen gnomAD
CA353771874 rs1333932921	1675	E>Q		No	ClinGen gnomAD
rs1413070061 CA353771865	1676	R>K		No	ClinGen TOPMed gnomAD
CA81518105 rs1010372271	1677	R>C		No	ClinGen TOPMed gnomAD
rs997360208 CA81518100	1677	R>H		No	ClinGen TOPMed gnomAD
rs997360208 CA353771858	1677	R>P		No	ClinGen TOPMed gnomAD
CA2543595 rs765350972	1679	Q>H		No	ClinGen ExAC gnomAD
rs1350590190 CA353771827	1682	R>*		No	ClinGen TOPMed
rs372239613 CA2543594	1682	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388997144 CA353771823	1683	E>Q		No	ClinGen TOPMed gnomAD
CA353771814 rs1184483100	1684	K>Q		No	ClinGen gnomAD
CA353771812 rs1476193171	1684	K>R		No	ClinGen gnomAD
rs1320793216 CA353771114	1688	T>A		No	ClinGen TOPMed
CA81518075 rs555158379	1690	T>I		No	ClinGen TOPMed gnomAD
rs776846217 CA2543593	1692	H>Y		No	ClinGen ExAC gnomAD
CA81511634 rs200900144	1696	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA2543587 rs368393292	1699	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2543588 rs774436326	1699	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1289494968 CA353770615	1700	Q>*		No	ClinGen TOPMed gnomAD
rs1289494968 CA353770618	1700	Q>K		No	ClinGen TOPMed gnomAD
CA353770575 rs1218709501	1702	M>I		No	ClinGen gnomAD
CA81511627 rs1022267617	1704	S>G		No	ClinGen TOPMed gnomAD
rs1022267617 CA353770549	1704	S>R		No	ClinGen TOPMed gnomAD
CA81511624 rs1010432113	1706	F>S		No	ClinGen TOPMed
CA353770511 rs1294298241	1706	F>V		No	ClinGen gnomAD
rs1372565838 CA353770486	1708	R>C		No	ClinGen TOPMed
rs201886712 CA81511623	1708	R>H		No	ClinGen ESP TOPMed gnomAD
rs201886712 CA81511620	1708	R>L		No	ClinGen ESP TOPMed gnomAD
rs1371840090 CA353770465	1710	V>I		No	ClinGen gnomAD
rs749059989 CA2543586	1712	L>P		No	ClinGen ExAC gnomAD
rs779948250 CA2543585	1713	E>K		No	ClinGen ExAC gnomAD
CA353770398 rs1354592794	1714	A>V		No	ClinGen gnomAD
rs1324875106 CA353770363	1716	Q>H		No	ClinGen TOPMed gnomAD
rs2270781 CA2543584	1717	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1303760012 CA353770337	1718	L>P		No	ClinGen TOPMed
CA2543582 rs780669248	1720	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2543581 RCV000904990 rs148547745	1721	N>K		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA81511606 rs928308717	1723	T>I		No	ClinGen Ensembl
rs1178855402 CA353770257	1724	L>F		No	ClinGen TOPMed gnomAD
CA81511604 rs900552685	1724	L>P		No	ClinGen TOPMed
rs1481033374 CA353770239	1725	E>V		No	ClinGen gnomAD
CA353770195 rs1171392188	1728	K>T		No	ClinGen gnomAD
CA2543580 rs752018447	1729	I>M		No	ClinGen ExAC gnomAD
rs981062805 CA81511600	1730	R>*		No	ClinGen TOPMed gnomAD
rs764605240 CA2543579	1733	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA81511594 rs189524927	1733	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs189524927 CA81511595	1733	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA353770067 rs1022817426	1737	A>P		No	ClinGen TOPMed gnomAD
rs1022817426 CA81511593	1737	A>T		No	ClinGen TOPMed gnomAD
rs758988568 CA2543578	1739	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1309852688 CA353769982	1741	E>G		No	ClinGen gnomAD
rs1559902555 CA353768930	1749	I>V		No	ClinGen Ensembl
CA81511091 rs369317273	1751	Q>*		No	ClinGen Ensembl
CA353768753 rs1303765259	1753	R>*		No	ClinGen TOPMed gnomAD
CA353768754 rs1303765259	1753	R>G		No	ClinGen TOPMed gnomAD
CA81511087 rs935444192	1753	R>P		No	ClinGen gnomAD
CA81511089 rs935444192	1753	R>Q		No	ClinGen gnomAD
rs1439165204 CA353768631	1755	E>D		No	ClinGen gnomAD
rs1359346476 CA353768550	1757	M>I		No	ClinGen gnomAD
CA353768594 rs1381298167	1757	M>L		No	ClinGen gnomAD
CA81511084 rs763717583	1758	M>T		No	ClinGen gnomAD
CA81511085 rs924009357	1758	M>V		No	ClinGen TOPMed
CA353768469 rs1454079756	1760	T>A		No	ClinGen gnomAD
CA81511082 rs915361544	1760	T>I		No	ClinGen TOPMed
rs989906536 CA81511080	1764	T>I		No	ClinGen TOPMed gnomAD
CA353768198 rs1285795541	1765	R>S		No	ClinGen TOPMed
rs1436716282 CA353768073	1768	Y>H		No	ClinGen gnomAD
CA353767888 rs1192832436	1773	L>S		No	ClinGen gnomAD
rs935838021 CA81511077	1777	K>N		No	ClinGen TOPMed gnomAD
rs762637939 CA353767610	1780	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs762637939 CA81511076	1780	L>V		No	ClinGen gnomAD
CA81511073 rs949379348	1782	S>C		No	ClinGen Ensembl
rs1485529306 CA353767501	1783	R>L		No	ClinGen gnomAD
rs1485529306 CA353767513	1783	R>Q		No	ClinGen gnomAD
CA353767515 rs1403040345	1783	R>W		No	ClinGen gnomAD
CA353767370 rs1278870351	1788	Q>R		No	ClinGen gnomAD
rs1252049383 CA353766545	1792	G>S		No	ClinGen gnomAD
rs555914198 CA353766512	1793	N>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs555914198 CA81510524	1793	N>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1467767134 CA353766505	1794	A>T		No	ClinGen gnomAD
CA2543559 rs754583545	1795	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1034501608 CA81510522	1799	R>P		No	ClinGen TOPMed gnomAD
CA353766381 rs1034501608	1799	R>Q		No	ClinGen TOPMed gnomAD
rs537576746 CA2543557	1799	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs917739021 CA81510521	1802	D>E		No	ClinGen TOPMed
rs1378995400 CA353766297	1803	V>I		No	ClinGen TOPMed
rs1440201422 CA353766218	1808	E>G		No	ClinGen gnomAD
CA2543555 rs62001865	1809	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1384685468 CA353766134	1812	L>F		No	ClinGen gnomAD
rs1027757696 CA353766058	1815	L>F		No	ClinGen gnomAD
CA81510517 rs1027757696	1815	L>V		No	ClinGen gnomAD
rs1364822823 CA353766035	1816	Q>R		No	ClinGen gnomAD
rs1178743839 CA353766016	1817	A>V		No	ClinGen TOPMed gnomAD
rs897777272 CA81510515	1819	R>S		No	ClinGen TOPMed gnomAD
CA353765902 rs1195095563	1821	S>L		No	ClinGen TOPMed gnomAD
CA81510513 rs967702989	1825	E>D		No	ClinGen TOPMed
CA81510512 rs1008778183	1827	I>T		No	ClinGen Ensembl
CA2543551 rs202098667	1827	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA81510511 rs890301944	1828	A>G		No	ClinGen Ensembl
rs1009715002 CA81510508	1831	R>C		No	ClinGen TOPMed gnomAD
CA353764622 rs1009715002	1831	R>G		No	ClinGen TOPMed gnomAD
CA2543550 rs762790255	1831	R>H		No	ClinGen ExAC TOPMed gnomAD
CA353764587 rs762790255	1831	R>L		No	ClinGen ExAC TOPMed gnomAD
CA353764590 rs762790255	1831	R>P		No	ClinGen ExAC TOPMed gnomAD
CA353764569 rs1368847426	1832	R>M		No	ClinGen gnomAD
rs2291905 CA353764460	1835	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs2291905 CA2543548	1835	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs2291905 CA353764469	1835	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA81510502 rs201665444	1837	I>M		No	ClinGen gnomAD
rs199841703 CA81510504	1837	I>S		No	ClinGen Ensembl
rs369571239 CA2543546	1839	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369571239 CA2543547	1839	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs867035985 CA81510497	1840	P>S		No	ClinGen Ensembl
rs376274792 CA81510495	1843	S>C		No	ClinGen ESP TOPMed gnomAD
rs376274792 CA81510493	1843	S>F		No	ClinGen ESP TOPMed gnomAD
rs1038646154 CA81510490	1844	P>S		No	ClinGen TOPMed gnomAD
RCV000898517 rs371164920 CA2543545	1845	R>*		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs371164920 CA353764165	1845	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2543544 rs115967798	1845	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1223580604 CA353764041	1848	E>D		No	ClinGen gnomAD
rs980275599 CA81510483	1849	I>M		No	ClinGen gnomAD
CA353763952 rs1448927689	1850	Q>*		No	ClinGen TOPMed
rs549546748 CA2543540	1852	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353763854 rs1282572569	1854	L>F		No	ClinGen gnomAD
rs1559901543 CA353763817	1855	L>C		No	ClinGen Ensembl

1 associated diseases with Q96MT7

[MIM: 617593]: Spermatogenic failure 20 (SPGF20)

An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. {ECO:0000269|PubMed:28552195, ECO:0000269|PubMed:29449551}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. {ECO:0000269|PubMed:28552195, ECO:0000269|PubMed:29449551}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for Q96MT7

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	216 - 258	IPR001680-1
repeat	WD40 repeat	261 - 300	IPR001680-2
repeat	WD40 repeat	355 - 402	IPR001680-3
repeat	WD40 repeat	459 - 507	IPR001680-4
repeat	WD40 repeat	564 - 605	IPR001680-5
repeat	WD40 repeat	844 - 886	IPR001680-6
conserved_site	WD40 repeat, conserved site	380 - 394	IPR019775

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium, flagellum Cytoplasm, cytoskeleton, flagellum axoneme
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
motile cilium	A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell.

1 GO annotations of molecular function

Name	Definition
peptidase activity	Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid.

4 GO annotations of biological process

Name	Definition
cilium assembly	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
cilium-dependent cell motility	Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
microtubule cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
sperm axoneme assembly	The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VUI3	DCX-EMAP	Echinoderm microtubule-associated protein-like CG42247	Drosophila melanogaster (Fruit fly)	PR
O00423	EML1	Echinoderm microtubule-associated protein-like 1	Homo sapiens (Human)	PR

10	20	30	40	50	60
MKEPDDQDTD	GEKSVTSKSD	GKKSLRSSKS	ESRSPVQEDN	TFLEDDTDET	FTKGEGSYLE
70	80	90	100	110	120
EDSDEERLEG	SLSSFQYGDL	QSTTVPQQTP	APAVEEAEEE	VKKKISESFF	YDYMELASMP
130	140	150	160	170	180
FVTLDSNIPL	DLLTLVHSFG	YDCRKRANLQ	LLDDSIAIYI	AGNQLIFLNL	KTKEQIYLRS
190	200	210	220	230	240
SSGEGIGVIG	VHPHKTYFTV	AEKGSFPDII	IYEYPSLRPY	RVLRDGTEKG	YAYVDFNYSG
250	260	270	280	290	300
NLLASVGSNP	DYTLTIWNWK	EEQPILRTKA	FSQEVFKVTF	NPDKEEQLTT	SGSGHIKFWE
310	320	330	340	350	360
MAFTFTGLKL	QGSLGRFGKT	ITTDIEGYME	LPDGKVLSGS	EWGNMLLWEG	GLIKVELCRG
370	380	390	400	410	420
TSKSCHNGPI	NQIMLYEGEV	ITVGSDGYVR	IWDFETIDTA	DVIDETGLLE	IEPINELQVD
430	440	450	460	470	480
KNVNLFSMIK	MNETGNNFWL	AQDANGAIWK	LDLSFSNITQ	DPECLFSFHS	GAIEAVAVSP
490	500	510	520	530	540
LTYLMATTAL	DCSVRIYDFA	SKTPLAQMKF	KQGGTALVWV	PRMVNFTGAQ	IIVGFEDGVV
550	560	570	580	590	600
RILELYDPKG	LTIFAGRKKI	LDADIQLKQV	FKPHTACVTA	LAYERDGEIL	ATGSKDQTVF
610	620	630	640	650	660
FFEVERDYKP	IGYINTPGPV	CQLMWSPMSH	PESTLLIICE	NGYILEAPLP	TIKQEEDDHD
670	680	690	700	710	720
VVSYEIKDMC	IKCFHFSSVK	SKILRLIEIE	KRERQRELKE	KIREERRNKL	AAEMGEDGEK
730	740	750	760	770	780
EFQEEEEEKE	EEEEEEEPLP	EIFIPSTPSP	ILCGFYSEPG	KFWVSLGGYD	SGFLYHCEFP
790	800	810	820	830	840
PCDESSDFKE	QKDEPIDVRY	LADTEDNPIQ	TITFNINKVM	MFCGMKNGAI	RVYVLNQNDP
850	860	870	880	890	900
SLTSLVDYWH	FNMHDNNYGC	IKSIANSFDD	RFLVTAGADG	NIFVFNIFSE	FMLRKDMKAK
910	920	930	940	950	960
VPSPRFGIET	EPIPEDIEDP	KAYSIENARR	KREHDKLMKE	VGEIKARKRE	QIKALRSEFC
970	980	990	1000	1010	1020
NLLEMNEKLP	KHMQFKRTDF	DVDSQIRAEM	HRKTAFKIQQ	VEKELAWEKE	KHELGLMKLK
1030	1040	1050	1060	1070	1080
NRFRDPLESD	TIVVHAILSD	HKISSYRLVQ	PSKYSKFKRA	SQSERKPSKL	DRFEKEGPGR
1090	1100	1110	1120	1130	1140
KDSQRDAGGS	VTIQEESIIE	KGKKFRPKTL	SEIIVENQIE	KTRKLILKAE	RAQLKIQQRK
1150	1160	1170	1180	1190	1200
KEWEELYKSK	PGDDYEDPKD	LQAIKEAQVY	MGDFNLKTAP	DYKIPEHMRI	NAAKKEEELG
1210	1220	1230	1240	1250	1260
HLDSLVHGNK	RHMNKCILSL	RDLKVAVVEE	IQCLVQELKN	IQSTLHISKH	IPIPKIPQIH
1270	1280	1290	1300	1310	1320
PEEVPEKRFQ	YDEETLLNFK	QQQMKSKDEK	SPGVEQTGSG	GPVGGFLKLS	SRKDGDLTTR
1330	1340	1350	1360	1370	1380
DSISRSSKAS	TFSLDIPKCL	EFEKAEPTDV	ELEIMKRDEI	KHVYMQQYLV	NRIKELVVTF
1390	1400	1410	1420	1430	1440
DAELRLLRHQ	KLKLDTQMKL	SDLHHVTLFQ	EILLLKNFEK	QENILQERVN	SLDKEEQYMQ
1450	1460	1470	1480	1490	1500
WKINETLKEM	EEKKNEITKL	QEQEKALYAG	FQAAIGENNK	FANFLMKVLK	KKIKRVKKKE
1510	1520	1530	1540	1550	1560
VEGDADEDEE	SEESSEEESS	LESDEDESES	EDEVFDDSIC	PTNCDVALFE	LALHLREKRL
1570	1580	1590	1600	1610	1620
DIEEALVEEK	KIVDNLKKEY	DTLSKKVKIV	ATNLNAAEEA	LEAYQREKQQ	RLNELLVVIP
1630	1640	1650	1660	1670	1680
LKLHQIEYVV	FGEIPSDLSG	TLVFSNHALR	RLQERIHELQ	EENSKQQKLN	KEWRERRKQL
1690	1700	1710	1720	1730	1740
IREKREMTKT	IHKMEETVRQ	LMISKFGRVV	NLEALQTLSV	NTTLEELKIR	KLRKELANAK
1750	1760	1770	1780	1790	1800
EMKMWEEKIA	QMRWELMMKT	KEHTRKLYQM	NDLCIEKKKL	DSRLNTLQNQ	QGNAFQGPRE
1810	1820	1830	1840	1850
ADVVAREEVT	ELIQLQAERI	SALKEEIALL	RRKGSLILPP	IQSPREKEIQ	PADL