AiPD: Autoinhibited Protein Database

Q9Y238

Gene name	DLEC1
Protein name	Deleted in lung and esophageal cancer protein 1
Names	Deleted in lung cancer protein 1, DLC-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9940
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1108-1183 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1108-1183 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q9Y238

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y238-F1	Predicted				AlphaFoldDB

1626 variants for Q9Y238

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001333646 rs776704507 CA2313823	289	P>T	Malignant tumor of esophagus [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs775426766 CA2313589	3	T>I		No	ClinGen ExAC gnomAD
rs934686657 CA72882692	4	R>G		No	ClinGen gnomAD
CA72882696 rs760565793	4	R>K		No	ClinGen ExAC
CA2313590 rs760565793	4	R>T		No	ClinGen ExAC
CA2313591 rs763800487	5	S>G		No	ClinGen ExAC TOPMed gnomAD
CA352128044 rs1317880755	5	S>N		No	ClinGen gnomAD
CA352128018 rs763800487	5	S>R		No	ClinGen ExAC TOPMed gnomAD
CA352128095 rs1308369828	6	S>F		No	ClinGen gnomAD
rs373700684 CA72882718	9	R>Q		No	ClinGen ESP
CA352128207 rs1441125262	9	R>W		No	ClinGen gnomAD
rs750066346 CA2313596	10	R>K		No	ClinGen ExAC TOPMed gnomAD
CA352128229 rs1225255016	10	R>S		No	ClinGen TOPMed gnomAD
rs750066346 CA2313595	10	R>T		No	ClinGen ExAC TOPMed gnomAD
rs765004082 CA2313594	10	R>W		No	ClinGen ExAC gnomAD
CA2313597 rs779665310	11	S>F		No	ClinGen ExAC gnomAD
CA352128247 rs1307691515	11	S>P		No	ClinGen gnomAD
CA2313598 rs747554278	12	L>S		No	ClinGen ExAC gnomAD
CA2313600 rs562776518	14	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	14	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs562776518 CA72882780	14	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352128319 rs1248943158	15	R>G		No	ClinGen TOPMed
rs748605134 CA2313601	15	R>P		No	ClinGen ExAC TOPMed gnomAD
rs748605134 CA2313602	15	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2313605 RCV000882445 rs186486591	16	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749462656 CA2313604	16	T>P		No	ClinGen ExAC
rs548646307 CA2313607	17	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1231550566 CA352128393	19	C>S		No	ClinGen TOPMed
rs764146548 CA2313608	20	Q>R		No	ClinGen ExAC gnomAD
rs374586864 CA72882837	21	G>E		No	ClinGen TOPMed gnomAD
CA72882832 rs776426487 CA352128448	21	G>R		No	ClinGen ExAC gnomAD
rs374586864 CA352128464	21	G>V		No	ClinGen TOPMed gnomAD
rs776426487 CA2313609	21	G>W		No	ClinGen ExAC gnomAD
rs1405417090 CA352128470	22	T>A		No	ClinGen gnomAD
CA2313612 rs750125618	24	W>C		No	ClinGen ExAC gnomAD
rs879067044 CA72882845	25	A>P		No	ClinGen gnomAD
rs879067044 CA352128554	25	A>S		No	ClinGen gnomAD
rs374580194 CA2313613	25	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313614 rs765996626	26	P>A		No	ClinGen ExAC gnomAD
rs992947724 CA72882860	27	T>A		No	ClinGen TOPMed gnomAD
rs992947724 CA352128579	27	T>P		No	ClinGen TOPMed gnomAD
CA352128595 rs1575367331	28	S>P		No	ClinGen Ensembl
rs370091458 CA2313616	30	P>L		No	ClinGen ExAC gnomAD
rs370091458 CA72882871	30	P>Q		No	ClinGen ExAC gnomAD
CA352128616 rs1400975947	30	P>T		No	ClinGen TOPMed
CA352128628 rs1479668306	31	A>D		No	ClinGen TOPMed gnomAD
rs1044805020 CA72882872	31	A>S		No	ClinGen TOPMed gnomAD
CA352128633 rs1205702289	32	G>R		No	ClinGen TOPMed gnomAD
CA352128635 rs1205702289	32	G>W		No	ClinGen TOPMed gnomAD
rs1482268137 CA352128648	34	S>C		No	ClinGen gnomAD
rs1190753840 CA352128661	35	S>G		No	ClinGen gnomAD
rs1473608013 CA352128664	35	S>N		No	ClinGen TOPMed
rs1472874363 CA352128678	36	P>L		No	ClinGen gnomAD
CA2313618 rs781757550	36	P>T		No	ClinGen ExAC gnomAD
rs753115092 CA2313619	37	S>T		No	ClinGen ExAC gnomAD
CA352128699 rs1411188168	38	Q>R		No	ClinGen gnomAD
CA2313620 rs756522552	39	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1181544580 CA352128719	40	T>I		No	ClinGen TOPMed
rs368268261 CA72882894	41	W>*		No	ClinGen ESP gnomAD
rs1369762252 CA352128726	41	W>G		No	ClinGen gnomAD
rs1440660866 CA352128761	44	S>F		No	ClinGen TOPMed
CA2313621 rs778070160	45	L>M		No	ClinGen ExAC TOPMed gnomAD
CA2313623 rs771083258	47	S>F		No	ClinGen ExAC gnomAD
CA72882905 rs936587740	47	S>T		No	ClinGen TOPMed gnomAD
rs189349400 CA2313625	48	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352128808 rs1575367593	49	L>P		No	ClinGen Ensembl
TCGA novel	51	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000971694 rs181606392 CA2313627	51	Y>C		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA352128827 rs181606392	51	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313628 rs776676799	52	S>C		No	ClinGen ExAC gnomAD
CA72882933 rs763575307	52	S>P		No	ClinGen Ensembl
rs761609211 CA2313629	53	E>K		No	ClinGen ExAC gnomAD
rs773078667 CA352128883	56	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA2313632 rs751255103	59	F>L		No	ClinGen ExAC TOPMed gnomAD
CA72882949 rs374359206	60	A>V		No	ClinGen ESP
CA352128937 rs1311145870	61	A>G		No	ClinGen TOPMed
rs751254116 CA2313634	62	R>Q		No	ClinGen ExAC gnomAD
rs368003919 CA2313633	62	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs759127421 CA2313635	64	R>C		No	ClinGen ExAC gnomAD
TCGA novel	65	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1009443837 CA72882969	65	R>H		No	ClinGen TOPMed gnomAD
CA352128971 rs1009443837	65	R>L		No	ClinGen TOPMed gnomAD
CA352128968 rs1559384859	65	R>S		No	ClinGen Ensembl
CA72882988 rs448076	66	L>F		No	ClinGen Ensembl
TCGA novel	66	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA72882997 rs867902831	66	L>P		No	ClinGen Ensembl
rs766917313 CA2313637	67	T>A		No	ClinGen ExAC TOPMed gnomAD
CA72883003 rs1018154046	67	T>M		No	ClinGen Ensembl
CA352128997 rs1382366592	68	Q>L		No	ClinGen TOPMed
CA352129021 rs1347083414	70	A>V		No	ClinGen TOPMed gnomAD
rs753276817 CA2313639	72	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2313638 rs753276817	72	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1575367834 CA352129033	72	A>V		No	ClinGen Ensembl
rs443225 CA72883008	73	Q>H		No	ClinGen gnomAD
CA352129053 rs1463542500	74	R>H		No	ClinGen TOPMed gnomAD
CA352129064 rs1247729824	75	P>L		No	ClinGen TOPMed
rs778123443 CA2313640	75	P>S		No	ClinGen ExAC gnomAD
rs540023974 CA352129076	76	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313642 rs570915077	76	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313643 rs540023974	76	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352129102 rs7625806	79	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2313644 VAR_056860 rs7625806	79	L>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1247033382 CA352129125	82	L>V		No	ClinGen gnomAD
rs748124987 CA72883039	83	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2313647 rs748124987	83	R>L		No	ClinGen ExAC TOPMed gnomAD
CA352129148 rs201100943	84	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313648 rs201100943	84	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313649 rs773269344	85	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1303599424 CA352129169	86	S>W		No	ClinGen gnomAD
rs774105056 CA2313652	87	L>P		No	ClinGen ExAC gnomAD
rs201872221 CA2313653	88	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201872221 CA2313654	88	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352129203 rs1324413104	89	T>P		No	ClinGen gnomAD
CA352129231 rs1575368077	90	Q>P		No	ClinGen Ensembl
rs1575368088 CA352129252	91	D>Y		No	ClinGen Ensembl
CA352129281 rs1231511127	92	I>T		No	ClinGen gnomAD
CA2313656 rs377209950	93	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA352129353 rs1228501345	96	L>P		No	ClinGen gnomAD
rs1266880825 CA352129361	97	T>S		No	ClinGen gnomAD
rs1267610344 CA352129409	101	R>C		No	ClinGen gnomAD
CA352129429 rs1297033714	102	N>S		No	ClinGen TOPMed
CA2313660 rs765534721	104	Y>C		No	ClinGen ExAC gnomAD
CA352129503 rs1212359774	106	A>P		No	ClinGen TOPMed gnomAD
CA352129518 rs1234537612	106	A>V		No	ClinGen gnomAD
CA2313663 rs780200283	107	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2313662 rs758486866	107	E>K		No	ClinGen ExAC gnomAD
CA2313664 rs747120384	108	V>I		No	ClinGen ExAC TOPMed gnomAD
CA352129619 rs1426510597	110	G>S		No	ClinGen TOPMed
rs1559385191 CA352129662	111	D>A		No	ClinGen Ensembl
CA2313666 rs777898800	111	D>H		No	ClinGen ExAC gnomAD
rs770874184 CA2313668	113	V>A		No	ClinGen ExAC gnomAD
rs773948539 CA2313669	116	S>R		No	ClinGen ExAC TOPMed gnomAD
rs992987144 CA72883195	119	K>E		No	ClinGen TOPMed gnomAD
CA2313670 rs745547261	120	A>S		No	ClinGen ExAC gnomAD
COSM1422665 rs775199798 CA2313672 COSM1422664	123	S>G	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760214352 CA2313673	124	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2313674 rs763569103	125	N>S		No	ClinGen ExAC gnomAD
TCGA novel	127	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777141843 CA2313675	127	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352129901 rs777141843	127	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1274800822 CA352129907	128	H>R		No	ClinGen gnomAD
rs1181449090 CA352129913	129	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352129927 rs1476235340	130	E>Q		No	ClinGen gnomAD
rs1188253701 CA352129935	130	E>V		No	ClinGen gnomAD
rs750699337 CA2313678	131	F>L		No	ClinGen ExAC gnomAD
rs1456535810 CA352129957	132	V>M		No	ClinGen gnomAD
rs927094392 CA72883240	133	D>H		No	ClinGen Ensembl
CA2313679 rs150290320	134	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1371605738 CA352130016	135	L>R		No	ClinGen gnomAD
rs970136663 CA72883244	136	Q>P		No	ClinGen TOPMed
CA352130051 rs1426778395	137	Q>*		No	ClinGen TOPMed gnomAD
rs370196668 CA2313695	139	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313694 rs186625169	139	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1313713731 CA352088347	140	E>K		No	ClinGen gnomAD
rs754101978 CA72862918	141	L>H		No	ClinGen Ensembl
rs755186945 CA2313697	145	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762324276 CA2313696	145	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2313699 rs763267155	147	D>G		No	ClinGen ExAC gnomAD
rs1272216923 CA352088403	148	E>G		No	ClinGen TOPMed
CA2313700 rs766745203	149	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1575378599 CA352088409	149	F>V		No	ClinGen Ensembl
rs568511981 CA2313702	151	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313703 rs373832144	152	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs878930280 CA72862949	153	E>K		No	ClinGen Ensembl
rs201980264 CA2313704	154	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313705 rs756254536	155	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1559390429 CA352088449	155	H>Y		No	ClinGen Ensembl
rs1376369535 CA352088460	156	I>T		No	ClinGen gnomAD
rs1370338338 CA352088475	158	Q>H		No	ClinGen TOPMed
CA2313706 rs778755536	159	A>P		No	ClinGen ExAC TOPMed gnomAD
CA352088477 rs778755536	159	A>S		No	ClinGen ExAC TOPMed gnomAD
CA352088493 rs750351143	161	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2313707 rs750351143	161	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA72862953 rs377465375	162	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1433963075 COSM345509 COSM345508 CA352088497	162	R>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1433963075 CA352088496	162	R>P		No	ClinGen TOPMed gnomAD
rs1433963075 CA352088495	162	R>Q		No	ClinGen TOPMed gnomAD
CA2313708 rs377465375	162	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs779857875 CA2313709	164	I>V		No	ClinGen ExAC TOPMed gnomAD
CA72862972 rs746671970	165	A>E		No	ClinGen ExAC gnomAD
CA2313710 rs746671970	165	A>V		No	ClinGen ExAC gnomAD
rs780810186 CA2313712	167	N>D		No	ClinGen ExAC gnomAD
CA352088535 rs1193902519	168	E>D		No	ClinGen TOPMed
CA2313715 rs752945398	169	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375143949 CA2313714	169	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA352088542 rs1328549947	170	V>F		No	ClinGen gnomAD
rs1224169804 CA352088550	171	M>T		No	ClinGen gnomAD
rs1207105072 CA352088547	171	M>V		No	ClinGen gnomAD
CA352088556 rs1204969429	172	S>G		No	ClinGen TOPMed
CA2313716 rs763471746	173	Q>*		No	ClinGen ExAC gnomAD
CA2313717 rs771233103	173	Q>H		No	ClinGen ExAC gnomAD
CA72862995 rs368394132	173	Q>R		No	ClinGen ESP TOPMed gnomAD
CA2313718 rs117463277	174	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752932471 CA2313721	175	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2313720 rs767914514	175	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	175	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2313722 rs760716991	177	Q>H		No	ClinGen ExAC gnomAD
CA352088586 rs1443417938	177	Q>R		No	ClinGen TOPMed
CA352088607 rs1292692610	180	E>G		No	ClinGen TOPMed gnomAD
rs758286831 CA2313725	180	E>K		No	ClinGen ExAC TOPMed gnomAD
CA72863054 rs963545314	184	R>G		No	ClinGen TOPMed gnomAD
rs754764749 CA2313728	184	R>T		No	ClinGen ExAC gnomAD
CA2313729 rs780863178	186	P>L		No	ClinGen ExAC gnomAD
rs1221320756 CA352088653	187	P>L		No	ClinGen gnomAD
rs752326062 CA2313749	188	V>G		No	ClinGen ExAC TOPMed gnomAD
CA2313731 rs201843677	188	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201843677 CA2313730	188	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA352089115 rs1168945074	190	S>N		No	ClinGen gnomAD
CA2313752 RCV000948259 rs34012183 VAR_056861	192	S>F		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	193	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2313753 rs76603930	193	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352089158 rs1251868857	194	W>S		No	ClinGen TOPMed
CA2313754 rs779607820	195	C>R		No	ClinGen ExAC gnomAD
rs775341611 CA2313756	195	C>S		No	ClinGen ExAC gnomAD
CA2313755 rs775341611	195	C>Y		No	ClinGen ExAC gnomAD
CA352089182 rs1229645035	196	I>T		No	ClinGen gnomAD
CA2313757 rs775929039	196	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2313759 rs768982207	199	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1559403649 CA352089232	200	L>F		No	ClinGen Ensembl
rs182898193 CA352089248	202	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313761 rs182898193	202	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313760 rs776714626	202	R>W		No	ClinGen ExAC TOPMed gnomAD
rs765278885 CA2313763	203	K>N		No	ClinGen ExAC
CA352089255 rs1286241684	203	K>R		No	ClinGen gnomAD
CA2313764 rs774298544	204	H>R		No	ClinGen ExAC gnomAD
TCGA novel	205	H>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488997709 CA352089285	206	L>F		No	ClinGen TOPMed gnomAD
CA2313766 rs767306644	207	I>T		No	ClinGen ExAC gnomAD
rs547071525 CA2313765	207	I>V		No	ClinGen ExAC gnomAD
CA2313768 rs755854100	208	S>A		No	ClinGen ExAC gnomAD
CA2313769 rs376309726	208	S>C		No	ClinGen ESP ExAC gnomAD
rs753407076 CA2313770	209	P>S		No	ClinGen ExAC gnomAD
rs930690990 CA72868047	210	E>G		No	ClinGen TOPMed gnomAD
rs756845387 CA2313772	211	D>V		No	ClinGen ExAC gnomAD
rs1436155007 CA352089322	212	Y>C		No	ClinGen gnomAD
rs973620002 CA72868056	212	Y>D		No	ClinGen Ensembl
rs1320108392 CA352089340	214	T>P		No	ClinGen gnomAD
CA2313774 COSM36702 COSM1566798 rs149190717	215	D>N	large_intestine skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2313776 rs780414386	216	T>I		No	ClinGen ExAC gnomAD
CA72868094 rs451863	218	P>A		No	ClinGen Ensembl
CA2313777 rs375926980	218	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	219	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352089426 rs1333637345	222	A>S		No	ClinGen gnomAD
CA352089431 rs1396398033	222	A>V		No	ClinGen TOPMed
rs776961217 CA2313779	223	P>S		No	ClinGen ExAC gnomAD
CA352089841 rs1478214976	225	G>D		No	ClinGen TOPMed
CA2313780 rs533245447	225	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA352089885 rs1198370631	229	P>R		No	ClinGen gnomAD
CA2313797 rs748378780	233	K>N		No	ClinGen ExAC gnomAD
rs940058841 CA72869313	233	K>R		No	ClinGen Ensembl
CA2313798 rs769948262	234	L>Q		No	ClinGen ExAC
rs777961309 CA2313799	237	S>R		No	ClinGen ExAC gnomAD
rs1212152752 CA352090026	238	C>Y		No	ClinGen gnomAD
CA2313800 rs369375450	239	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1472968810 CA352090047	240	K>E		No	ClinGen TOPMed gnomAD
rs367725661 CA2313801	241	R>C	Variant assessed as Somatic; 0.0001392 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs775515217 CA2313802	241	R>H		No	ClinGen ExAC TOPMed gnomAD
CA72869327 rs900965895	242	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs148212000 CA72869345	243	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1203687 rs148212000 COSM1203686 CA2313804	243	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs776231381 CA2313805	245	K>M		No	ClinGen ExAC gnomAD
CA72869365 rs551628345	246	K>N		No	ClinGen Ensembl
rs1559406116 CA352090110	246	K>R		No	ClinGen Ensembl
TCGA novel	247	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352090127 rs1318459588	248	L>M		No	ClinGen TOPMed
CA2313808 rs765051280	249	N>K		No	ClinGen ExAC TOPMed gnomAD
CA352090158 rs1334393963	250	K>N		No	ClinGen TOPMed
CA352090214 rs1409936182	255	S>*		No	ClinGen gnomAD
CA72869379 rs753574986	255	S>A		No	ClinGen gnomAD
CA2313810 rs762600849	256	C>R		No	ClinGen ExAC gnomAD
TCGA novel	258	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246586292 CA352090258	259	K>E		No	ClinGen gnomAD
rs765759075 CA2313811	259	K>T		No	ClinGen ExAC gnomAD
TCGA novel	260	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2313812 rs752142620	261	A>G		No	ClinGen ExAC gnomAD
CA352090280 rs889007660	261	A>S		No	ClinGen TOPMed gnomAD
rs889007660 CA72869384	261	A>T		No	ClinGen TOPMed gnomAD
rs755377750 CA352090306	263	F>L		No	ClinGen ExAC TOPMed gnomAD
rs116202356 CA2313814	264	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs542508168 CA2313815	266	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs418495 CA72869392	268	D>A		No	ClinGen Ensembl
rs365331 CA352090362 CA72869402	268	D>E		No	ClinGen gnomAD
CA72869405 rs1016538653	271	V>M		No	ClinGen TOPMed
CA352090393 rs1188575499	272	D>N		No	ClinGen gnomAD
CA352090418 rs966443323	274	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	275	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2313816 rs756436066	275	T>K		No	ClinGen ExAC TOPMed gnomAD
CA352090440 rs1391347662	276	W>*		No	ClinGen gnomAD
rs749458835 CA352090451	277	N>D		No	ClinGen ExAC TOPMed gnomAD
rs749458835 CA2313818	277	N>H		No	ClinGen ExAC TOPMed gnomAD
CA352090512 rs1393777047	283	K>Q		No	ClinGen TOPMed gnomAD
TCGA novel	283	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA72869421 rs977774630	284	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1334420713 CA352090536	285	R>G		No	ClinGen gnomAD
rs771070045 CA2313819	286	T>I		No	ClinGen ExAC gnomAD
rs368760298 CA2313820	287	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313822 rs75961453	288	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746980614 CA2313821	288	E>K		No	ClinGen ExAC gnomAD
CA2313824 rs747997784	289	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2313825 rs375270548	290	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs375270548 CA2313826	290	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA72869439 rs1035393211	291	K>R		No	ClinGen TOPMed
CA352090594 rs1035393211	291	K>T		No	ClinGen TOPMed
CA2313846 rs773078700	293	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1325904803 CA352090897	294	S>R		No	ClinGen TOPMed
CA72869532 rs419164	295	Q>H		No	ClinGen Ensembl
CA2313847 rs748987600	296	P>R		No	ClinGen ExAC TOPMed gnomAD
rs376900969 CA2313848	297	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA72869552 CA2313850 rs759013575	298	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2313849 rs774051964	298	N>S		No	ClinGen ExAC gnomAD
TCGA novel	299	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA72869559 rs419182	300	N>Y		No	ClinGen Ensembl
CA352090948 TCGA novel rs1160938517	301	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA2313852 rs776003313	303	N>K		No	ClinGen ExAC
rs1252473293 CA352090969	304	H>D		No	ClinGen gnomAD
rs200319592 CA2313853	305	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313855 rs377653645	306	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA72869573 rs377653645	306	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA72869576 rs760284097	306	R>H		No	ClinGen TOPMed gnomAD
CA352090986 rs1286850344	307	V>M		No	ClinGen gnomAD
rs754259341 CA2313856	309	Q>H		No	ClinGen ExAC
TCGA novel	311	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA72869584 rs960426278	311	E>G		No	ClinGen Ensembl
CA352091017 rs1357045307	311	E>K		No	ClinGen Ensembl
CA72869588 rs895543544	313	D>E		No	ClinGen TOPMed gnomAD
rs1378374974 CA352091044	313	D>G		No	ClinGen gnomAD
CA352091054 rs1575405059	314	R>T		No	ClinGen Ensembl
rs1479116464 CA352091062	315	L>I		No	ClinGen gnomAD
TCGA novel	318	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352091144 rs1343782723	322	S>C		No	ClinGen TOPMed gnomAD
CA352091143 rs1343782723	322	S>G		No	ClinGen TOPMed gnomAD
CA2313859 rs201162821	323	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs370478680 CA2313858	323	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1443321922 CA352091207	328	K>Q		No	ClinGen TOPMed
rs765332789	329	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2313861 rs374044993	330	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313862 rs186478415	331	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313863 rs538985876	331	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538985876 CA72869593	331	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352091310 rs1267308656	334	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352091367 rs1333890020	337	T>I		No	ClinGen gnomAD
rs777843891 CA2313866	338	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2313867 rs749106364	338	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1418198300 CA352091401	339	Y>*		No	ClinGen gnomAD
rs770732478 CA2313868	339	Y>F		No	ClinGen ExAC gnomAD
CA2313870 rs200239580	341	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367592008 CA2313869	341	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA352091435 rs1575405219	342	K>R		No	ClinGen Ensembl
rs910131861 CA72869626	343	S>C		No	ClinGen gnomAD
CA2313871 rs765847675	344	L>F		No	ClinGen ExAC gnomAD
CA352091484 rs1422752749	345	V>A		No	ClinGen TOPMed
rs774919408 CA2313873	348	P>S		No	ClinGen ExAC
CA352091531 rs1289015741	349	K>E		No	ClinGen TOPMed gnomAD
CA72869634 rs961403074	350	K>T		No	ClinGen TOPMed gnomAD
VAR_035908	351	P>R	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs1315087564 CA352091584	353	P>A		No	ClinGen gnomAD
rs74865139 CA2313876	353	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352091599 rs1406361256	354	I>T		No	ClinGen gnomAD
CA72869651 rs909911353	355	G>R		No	ClinGen TOPMed
CA2313879 rs750642314	356	E>K		No	ClinGen ExAC gnomAD
rs1457719343 CA352091663	360	T>A		No	ClinGen TOPMed
rs1259255424 CA352091669	360	T>I		No	ClinGen TOPMed
CA2313881 rs766584114	361	E>G		No	ClinGen ExAC gnomAD
rs763169770 CA2313880	361	E>K		No	ClinGen ExAC gnomAD
CA2313882 rs751751483	364	Q>H		No	ClinGen ExAC gnomAD
CA72869670 rs419616	364	Q>P		No	ClinGen TOPMed gnomAD
rs419616 CA352091710	364	Q>R		No	ClinGen TOPMed gnomAD
CA352091802 rs1487531435	367	A>T		No	ClinGen TOPMed
rs1452242079 CA352091809	368	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352091821 rs1246399696	369	T>I		No	ClinGen TOPMed
rs1334962425 CA352091824	370	P>S		No	ClinGen gnomAD
rs1367869202 CA352091851	374	A>V		No	ClinGen gnomAD
rs1436199329 CA352091863	376	P>S		No	ClinGen TOPMed gnomAD
RCV000960834 rs117013868 CA2313899	377	P>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2313900 rs751804734	378	I>T		No	ClinGen ExAC gnomAD
CA352091873 rs1360446242	378	I>V		No	ClinGen TOPMed gnomAD
CA2313901 rs759741718	381	F>L		No	ClinGen ExAC gnomAD
TCGA novel	381	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2313902 rs372015250	382	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	383	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1367180192 CA352091914	384	Y>D		No	ClinGen gnomAD
TCGA novel	384	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202717200 CA352091925	385	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	386	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs531896839 CA2313903	389	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA352091957 rs1466088425	390	Y>C		No	ClinGen gnomAD
rs1241466851 CA352091964	391	E>G		No	ClinGen gnomAD
CA352094169 rs1297069553	393	V>A		No	ClinGen TOPMed gnomAD
CA352094168 rs1300796394	393	V>L		No	ClinGen gnomAD
CA2313926 rs143610524 RCV000971695	395	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2313929 rs780696598	397	Q>*		No	ClinGen ExAC gnomAD
rs780696598 CA352094189	397	Q>K		No	ClinGen ExAC gnomAD
rs747764504 CA2313931	398	N>T		No	ClinGen ExAC TOPMed
CA2313933 rs778396377	399	T>N		No	ClinGen ExAC gnomAD
CA2313932 rs755549998	399	T>P		No	ClinGen ExAC TOPMed
CA352094204 rs755549998	399	T>S		No	ClinGen ExAC TOPMed
rs1575169191 CA352094208	400	T>P		No	ClinGen Ensembl
rs749767723 CA2313934	401	T>A		No	ClinGen ExAC gnomAD
rs771423794 CA2313935	401	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2313937 rs746219378	402	T>P		No	ClinGen ExAC gnomAD
rs529472287 CA2313939	403	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs199770928 CA2313940	404	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199507233 CA2313941	404	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs199507233 CA352094231	404	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs773163930 CA2313942	405	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2313943 rs762811545	406	L>P		No	ClinGen ExAC gnomAD
rs377205155 CA2313944	407	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs369726203 CA2313945	407	R>Q		No	ClinGen ExAC gnomAD
rs767242024 CA2313947	410	P>L		No	ClinGen ExAC TOPMed gnomAD
rs931911233 CA72886420	411	P>R		No	ClinGen Ensembl
CA352094278 rs777349201	413	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2313950 rs777349201	413	T>M		No	ClinGen ExAC TOPMed gnomAD
CA352094294 rs1252996279	416	F>I		No	ClinGen gnomAD
CA352094297 rs1399420897	416	F>Y		No	ClinGen gnomAD
rs146022078 CA2313953	417	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313954 rs146022078	417	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA72886434 rs892218473	419	G>A		No	ClinGen TOPMed gnomAD
rs772299960 CA2313955	420	L>R		No	ClinGen ExAC gnomAD
rs1349590725 CA352094585	421	G>E		No	ClinGen TOPMed
rs1263073859 CA352094601	422	M>I		No	ClinGen gnomAD
rs758823039 CA2313978	424	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758823039 CA352094623	424	P>R		No	ClinGen ExAC TOPMed gnomAD
CA72887348 CA352094626 rs2517963	425	G>R		No	ClinGen Ensembl
CA72887350 rs1032986736	426	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1370911760 CA352094652	427	G>V		No	ClinGen gnomAD
CA2313979 rs780216252	428	G>R		No	ClinGen ExAC gnomAD
rs1575173990 CA352094664	429	M>V		No	ClinGen Ensembl
CA2313981 rs553270722	431	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313982 rs781390183	431	A>V		No	ClinGen ExAC gnomAD
rs769844590 CA2313984	432	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748270520 CA2313983	432	P>S		No	ClinGen ExAC
rs1385358646 CA352094733	434	M>V		No	ClinGen gnomAD
rs774298441 CA2313985	435	T>P		No	ClinGen ExAC TOPMed gnomAD
CA352094761 rs1293332717	436	C>G		No	ClinGen gnomAD
CA2313986 rs759355249	436	C>Y		No	ClinGen ExAC gnomAD
rs771910161 CA2313987	437	Q>P		No	ClinGen ExAC gnomAD
CA352094811 rs1282917821	439	I>F		No	ClinGen gnomAD
rs1282917821 CA352094807	439	I>L		No	ClinGen gnomAD
rs368510811 CA2313990	441	Q>H		No	ClinGen ESP TOPMed gnomAD
rs760511245 CA2313989	441	Q>P		No	ClinGen ExAC
CA352094855 rs1575174083	442	F>V		No	ClinGen Ensembl
CA2313992 rs763876085	442	F>Y		No	ClinGen ExAC gnomAD
CA2313996 rs750944069	445	D>E		No	ClinGen ExAC TOPMed gnomAD
rs761428385 CA2313995	445	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2313994 rs761428385	445	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758774733 CA2313997	446	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1427957940 CA352094957	448	G>E		No	ClinGen TOPMed gnomAD
CA72887460 CA2313999 rs375331375	448	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1575174180 CA352094972	449	D>G		No	ClinGen Ensembl
rs368083464 CA72887479	450	F>L		No	ClinGen ESP TOPMed
CA352095088 rs1365255285	457	E>V		No	ClinGen TOPMed
CA352095104 rs1452709177	459	Q>*		No	ClinGen gnomAD
CA72887482 rs993699190	461	A>V		No	ClinGen Ensembl
rs748323779 CA2314002	462	H>L		No	ClinGen ExAC gnomAD
CA352095150 rs1273837522	463	T>I		No	ClinGen TOPMed
rs756221236 CA2314003	464	L>V		No	ClinGen ExAC gnomAD
rs955007560 CA72887514	467	P>A		No	ClinGen TOPMed
CA2314006 rs371576079	467	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314005 rs371576079	467	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs776453700 CA2314010	471	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768520831 CA2314009	471	R>W		No	ClinGen ExAC TOPMed gnomAD
CA352095226 rs1237255639	472	R>T		No	ClinGen gnomAD
rs761489272 CA2314011	473	P>A		No	ClinGen ExAC gnomAD
CA2314012 rs377102519	473	P>L		No	ClinGen ExAC TOPMed gnomAD
CA352095246 rs1267631265	474	P>R		No	ClinGen gnomAD
CA352095244 rs1222374010	474	P>S		No	ClinGen gnomAD
CA352095253 rs1187971803	475	P>H		No	ClinGen TOPMed
rs756971918	476	V>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA72887569 CA352095258 rs79138042	476	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2314018 rs79138042	476	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756971918	476	V>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA72887574 rs930293551	477	L>P		No	ClinGen TOPMed
CA2314030 COSM187124 rs752369082 COSM187125	481	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1575175626 CA352095360	482	V>G		No	ClinGen Ensembl
CA352095355 rs1176372516	482	V>M		No	ClinGen gnomAD
CA72887957 rs1046010706	484	D>Y		No	ClinGen TOPMed gnomAD
rs762420912 CA2314033	486	G>S		No	ClinGen ExAC gnomAD
rs375429678 CA72887965	488	C>Y		No	ClinGen ESP TOPMed
CA72887967 rs941286978	489	L>F		No	ClinGen gnomAD
CA2314034 rs770428271	490	I>F		No	ClinGen ExAC gnomAD
CA352095438 rs770428271	490	I>L		No	ClinGen ExAC gnomAD
CA352095442 rs774754693	490	I>N		No	ClinGen ExAC TOPMed gnomAD
CA2314035 rs774754693	490	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1338944884 CA352095451	491	G>A		No	ClinGen TOPMed gnomAD
CA352095446 rs1464319694	491	G>W		No	ClinGen gnomAD
rs937563326 CA72887977	492	G>E		No	ClinGen TOPMed gnomAD
CA352095471 rs1364650569	493	V>A		No	ClinGen gnomAD
CA352095472 rs1364650569	493	V>G		No	ClinGen gnomAD
rs1313585091 CA352095466	493	V>L		No	ClinGen gnomAD
rs767885526 CA2314037	494	K>T		No	ClinGen ExAC gnomAD
CA2314038 rs753122271	495	M>I		No	ClinGen ExAC gnomAD
rs1264538096 CA352095549	500	C>*		No	ClinGen TOPMed gnomAD
CA352095553 rs1559433158	501	K>E		No	ClinGen Ensembl
rs1291316101 CA352095570	502	N>S		No	ClinGen TOPMed
CA352095575 rs1232603793	503	V>M		No	ClinGen TOPMed
rs1202740179 CA352095606	506	S>G		No	ClinGen TOPMed gnomAD
rs1235690322 CA352095609	506	S>I		No	ClinGen gnomAD
CA2314041 rs754039534	507	V>A		No	ClinGen ExAC gnomAD
rs751554965 CA2314044	508	G>A		No	ClinGen ExAC gnomAD
CA352095631 rs751554965	508	G>D		No	ClinGen ExAC gnomAD
rs778982897 CA2314043	508	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352095636 rs1439832969	509	R>K		No	ClinGen TOPMed
CA2314045 rs755022668	509	R>S		No	ClinGen ExAC gnomAD
rs372747559 CA72888027	510	F>S		No	ClinGen ESP
rs1575175929 CA352095645	510	F>V		No	ClinGen Ensembl
rs1198560175 CA352095673	512	I>S		No	ClinGen gnomAD
rs769611347 CA2314049	513	M>I		No	ClinGen ExAC TOPMed
rs1332655451 CA352095676	513	M>V		No	ClinGen gnomAD
rs199946277 CA2314050	514	P>H		No	ClinGen ExAC TOPMed gnomAD
rs199946277 CA352095695	514	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1391658298 CA352095693	514	P>S		No	ClinGen TOPMed
rs1462415433 CA352095717	517	S>C		No	ClinGen TOPMed
rs1420741149 CA352095727	517	S>R		No	ClinGen TOPMed
rs192564709 CA2314052	519	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352095754 rs1264762198	520	P>S		No	ClinGen TOPMed gnomAD
CA2314054 rs773796359	523	F>L		No	ClinGen ExAC gnomAD
CA2314070 rs367726934	526	I>T		No	ClinGen ESP ExAC gnomAD
CA352096091 rs1283517654	528	T>A		No	ClinGen gnomAD
rs376778634 CA72889231	529	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314072 COSM345511 COSM345510 rs376778634	529	V>I	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA352096098 rs376778634	529	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201075081 CA352096105	530	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201075081 CA2314074	530	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776005344 CA2314075	532	V>A		No	ClinGen ExAC gnomAD
rs961391979 CA72889244	537	F>S		No	ClinGen TOPMed gnomAD
CA72889251 CA2314076 rs747481092	538	G>R		No	ClinGen ExAC gnomAD
rs1164771335 CA352096201	539	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs768914877 CA2314077	539	I>V		No	ClinGen ExAC gnomAD
CA2314078 rs777110610	540	L>R		No	ClinGen ExAC gnomAD
rs1559435184 CA352096208	541	P>S		No	ClinGen Ensembl
CA2314079 rs371872302	542	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314082 rs763148617	547	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM3783708 CA2314083 rs763148617 COSM3783707	547	A>T	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2314084 rs200156259	548	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2314086 rs763929515	549	G>E		No	ClinGen ExAC gnomAD
rs753702252 CA2314087	550	H>R		No	ClinGen ExAC TOPMed gnomAD
CA352096286 rs1467459615	551	A>V		No	ClinGen TOPMed
CA352096296 rs1412062468	552	I>M		No	ClinGen TOPMed
CA352096311 rs1163111074	554	V>L		No	ClinGen TOPMed
CA2314115 rs778231212 COSM230976 COSM230977	559	S>F	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2314116 rs370318185	561	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218043983 CA352097234	561	K>T		No	ClinGen gnomAD
rs1276581380 CA352097252	562	S>N		No	ClinGen gnomAD
CA2314117 rs771315567	562	S>R		No	ClinGen ExAC gnomAD
CA352097298 rs1482478849	565	K>N		No	ClinGen gnomAD
CA2314118 rs774426911	565	K>R		No	ClinGen ExAC gnomAD
TCGA novel	568	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2314119 rs1449998054	569	T>S		No	ClinGen TOPMed
rs1207413823 CA352097348	569	T>S		No	ClinGen gnomAD
rs373775734 CA2314121	570	F>Y		No	ClinGen ESP ExAC gnomAD
rs771982845 CA2314122	571	I>M		No	ClinGen ExAC gnomAD
CA352097386 rs1488343643	571	I>S		No	ClinGen gnomAD
rs1189584047 CA352097411	573	M>I		No	ClinGen TOPMed
CA352097410 rs776663999	573	M>K		No	ClinGen ExAC gnomAD
rs776663999 CA2314123	573	M>T		No	ClinGen ExAC gnomAD
rs761691976 CA352097425	574	C>*		No	ClinGen ExAC TOPMed gnomAD
rs765139538 CA2314125	575	D>N		No	ClinGen ExAC gnomAD
CA352097437 rs1376920706	575	D>V		No	ClinGen gnomAD
CA2314126 rs750259901	579	I>V		No	ClinGen ExAC TOPMed gnomAD
CA352097507 rs1290589213	581	E>*		No	ClinGen gnomAD
rs528790534 CA2314129	585	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559949061 CA2314128	585	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA72891711 rs920767379	586	G>R		No	ClinGen Ensembl
rs1365555240 CA352098189	587	I>S		No	ClinGen TOPMed
rs571584825 CA2314144	587	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2314145 rs769791207	589	Q>P		No	ClinGen ExAC gnomAD
CA352098221 rs1575187589	591	I>F		No	ClinGen Ensembl
TCGA novel	592	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411563556 CA352098230	592	A>T		No	ClinGen gnomAD
rs1575187610 CA352098256	594	D>A		No	ClinGen Ensembl
rs913201940 CA72895035	596	I>T		No	ClinGen Ensembl
rs1393328329 CA352098283	597	Y>C		No	ClinGen gnomAD
rs766020781 CA2314148	597	Y>H		No	ClinGen ExAC gnomAD
rs1308216675 CA352098307	599	S>F		No	ClinGen gnomAD
rs767174387 CA2314152	601	E>*		No	ClinGen ExAC gnomAD
rs767174387 CA352098328	601	E>K		No	ClinGen ExAC gnomAD
CA2314155 rs755678398	606	D>E		No	ClinGen ExAC TOPMed gnomAD
CA352098429 rs1361006026	606	D>N		No	ClinGen gnomAD
CA2314154 rs752292637	606	D>V		No	ClinGen ExAC gnomAD
CA352098450 rs1487331736	607	P>A		No	ClinGen TOPMed gnomAD
CA352098448 rs1487331736	607	P>S		No	ClinGen TOPMed gnomAD
CA352098495 rs1485997722	609	E>Q		No	ClinGen TOPMed
rs1559439884 CA352098536	611	T>A		No	ClinGen Ensembl
rs778478261 CA2314157	611	T>I		No	ClinGen ExAC gnomAD
rs1176717296 CA352098557	612	D>E		No	ClinGen TOPMed gnomAD
CA2314159 rs551003182	613	L>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2314160 rs779100824	616	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs779100824 CA2314161	616	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA352098643 rs1164221114	616	Q>H		No	ClinGen gnomAD
rs1348178568 CA352098649	617	H>D		No	ClinGen gnomAD
rs375094703 CA2314162	619	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs748348900 CA2314163	620	R>*		No	ClinGen ExAC TOPMed gnomAD
rs748348900 CA352098749	620	R>G		No	ClinGen ExAC TOPMed gnomAD
rs747150027 CA2314164	620	R>Q		No	ClinGen ExAC gnomAD
rs1317817878 CA352098814	623	P>S		No	ClinGen gnomAD
rs1206190325 CA352098887	626	L>V		No	ClinGen TOPMed gnomAD
CA2314168 rs377618804	627	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314169 rs377618804	627	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2314167 rs374503435 COSM2985836 COSM2985835	627	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs774060723 CA2314170	629	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1473113307 CA352098967	631	R>T		No	ClinGen TOPMed gnomAD
CA352099001 rs1455576242	633	Q>*		No	ClinGen TOPMed
CA2314172 rs767138305	634	L>V		No	ClinGen ExAC
rs1430312185 CA352099069	637	R>G		No	ClinGen gnomAD
CA352099076 rs1171664776	637	R>I		No	ClinGen gnomAD
CA2314175 rs139832469	640	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533098291 CA2314174	640	T>S		No	ClinGen ExAC TOPMed gnomAD
CA352099352 CA2314194 rs201339562	642	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2314195 rs201339562	642	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1345466586 CA352099365	643	E>K		No	ClinGen gnomAD
rs1345466586 CA352099367	643	E>Q		No	ClinGen gnomAD
CA352099402 rs1218374524	645	A>T		No	ClinGen gnomAD
CA2314196 rs750885093	646	F>L		No	ClinGen ExAC gnomAD
CA2314198 rs368747390	648	W>C		No	ClinGen ESP ExAC gnomAD
rs751800988 CA2314199	650	I>F		No	ClinGen ExAC gnomAD
rs34503588 CA2314200	651	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374395632 CA2314201	652	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA72896003 rs996917252	654	N>S		No	ClinGen TOPMed gnomAD
rs996917252 CA352099539	654	N>T		No	ClinGen TOPMed gnomAD
CA352099555 rs1189880165	656	Q>*		No	ClinGen gnomAD
rs899738597 CA72896017	660	P>R		No	ClinGen gnomAD
CA72896025 rs932346320	661	G>R		No	ClinGen Ensembl
CA2314203 rs756201773	665	S>G		No	ClinGen ExAC gnomAD
rs745782400 CA2314205	666	M>R		No	ClinGen ExAC gnomAD
CA2314204 rs367999851	666	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA352099761 rs1331282770	667	D>E		No	ClinGen gnomAD
CA2314206 rs532501700	668	S>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	668	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780045813 CA2314207	668	S>T		No	ClinGen ExAC TOPMed gnomAD
rs746773216 CA2314208	669	I>V		No	ClinGen ExAC TOPMed gnomAD
CA352099833 rs768490949	670	K>N		No	ClinGen ExAC TOPMed gnomAD
CA2314210 rs776411119	671	C>R		No	ClinGen ExAC TOPMed gnomAD
CA352099867 rs1575190125	672	Y>F		No	ClinGen Ensembl
CA2314213 rs769282389	673	P>H		No	ClinGen ExAC gnomAD
CA2314212 rs769282389	673	P>L		No	ClinGen ExAC gnomAD
CA72896072 rs1003134431	674	D>E		No	ClinGen Ensembl
rs375728827 CA2314215	674	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2314216 rs751958731	675	K>E		No	ClinGen ExAC gnomAD
CA2314217 rs34290809	676	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352099955 rs34290809	676	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752902749 CA2314219	681	I>S		No	ClinGen ExAC gnomAD
CA2314218 rs767782598	681	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2314220 rs756149186	682	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA352100165 rs1437309099	685	K>N		No	ClinGen gnomAD
rs1164548489 CA352100177	686	G>W		No	ClinGen gnomAD
CA352100194 rs1284361503	687	V>F		No	ClinGen gnomAD
rs1321103454 CA352100221	689	S>G		No	ClinGen TOPMed gnomAD
rs1026959382 CA72896122	690	P>H		No	ClinGen TOPMed gnomAD
rs185801100 CA72896130	691	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2314226 rs185801100	691	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA72896136 rs377202219	692	T>K		No	ClinGen ESP TOPMed
CA2314227 rs370038374	694	H>Y		No	ClinGen ESP ExAC gnomAD
rs747795512 CA2314229	695	E>K		No	ClinGen ExAC TOPMed gnomAD
rs769209441 CA2314230	697	I>L		No	ClinGen ExAC gnomAD
rs568758903 CA2314231	698	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA2314232 rs762418059	699	S>R		No	ClinGen ExAC gnomAD
rs771491987 CA2314233	701	S>A		No	ClinGen ExAC gnomAD
CA2314235 rs774823423	702	P>S		No	ClinGen ExAC gnomAD
CA2314234 rs774823423	702	P>T		No	ClinGen ExAC gnomAD
rs2844426 CA72896719	705	L>M		No	ClinGen ExAC
CA2314257 rs2844426	705	L>V		No	ClinGen ExAC
CA2314258 rs201807408	706	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	707	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352101221 rs1347656303	710	S>N		No	ClinGen TOPMed
rs1341209851 CA352101232	711	V>M		No	ClinGen TOPMed gnomAD
CA352101260 rs1399638038	713	Q>H		No	ClinGen TOPMed gnomAD
CA352101257 rs1388802116	713	Q>R		No	ClinGen TOPMed
CA2314260 rs776938063	714	M>V		No	ClinGen ExAC gnomAD
CA2314261 rs2844427	716	L>I		No	ClinGen ExAC TOPMed
rs1029308460 CA72896732	716	L>Q		No	ClinGen TOPMed
TCGA novel	719	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2314263 rs751564806	722	P>T		No	ClinGen ExAC gnomAD
rs767324318 CA2314265	723	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM2985860 CA2314296 COSM2985859 rs750046681	727	A>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA352101709 rs1449397155	729	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2314298 CA352101720 rs770207932	729	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1449397155 CA352101713	729	S>T		No	ClinGen TOPMed gnomAD
CA352101740 rs1376864093	730	L>P		No	ClinGen gnomAD
CA352101763 rs1280287954	731	G>E		No	ClinGen TOPMed
CA2314300 rs763104349	731	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1264446953 CA352101845	734	S>P		No	ClinGen gnomAD
CA352101881 rs1196433990	735	Y>C		No	ClinGen TOPMed
CA2314304 rs775527223	739	D>A		No	ClinGen ExAC gnomAD
CA2314305 rs760477452	739	D>E		No	ClinGen ExAC TOPMed gnomAD
CA352101997 rs1220957540	739	D>H		No	ClinGen TOPMed
rs1175411411 CA352102078	744	E>G		No	ClinGen gnomAD
rs150616817 CA2314306	746	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2314307 rs753702571	747	V>A		No	ClinGen ExAC gnomAD
CA352102125 rs1164371261	747	V>L		No	ClinGen gnomAD
rs1164371261 CA352102115	747	V>M		No	ClinGen gnomAD
rs761587663 CA2314308	749	G>A		No	ClinGen ExAC TOPMed gnomAD
CA72897313 rs761587663	749	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1332521342 CA352102152	749	G>R		No	ClinGen gnomAD
rs1559443376 CA352102180	751	V>A		No	ClinGen Ensembl
CA352102175 rs1445298395	751	V>I		No	ClinGen gnomAD
COSM224226 CA2314309 rs764887158 COSM224227	752	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1465304584 CA352102214	753	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA352102222 rs757957616	754	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2314312 rs139666203	754	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2314311 rs757957616	754	F>V		No	ClinGen ExAC TOPMed gnomAD
rs568087360 CA2314314 CA2314313	755	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352102257 rs1575194213	755	Q>R		No	ClinGen Ensembl
TCGA novel	757	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220076187 CA352102313	758	L>S		No	ClinGen gnomAD
CA352102333 rs1258550408	759	E>K		No	ClinGen gnomAD
CA2314316 COSM215903 rs373467084 COSM215904	763	L>F	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2314317 rs377290650	764	I>V		No	ClinGen ESP ExAC TOPMed
CA2314318 rs553587149	765	I>V		No	ClinGen 1000Genomes ExAC
CA352102522 rs1483636032	766	P>L		No	ClinGen gnomAD
CA2314320 rs771063541	768	E>*		No	ClinGen ExAC gnomAD
CA2314321 rs774340757	769	N>K		No	ClinGen ExAC gnomAD
CA352102708 rs1171644517	771	I>T		No	ClinGen gnomAD
rs570392175 CA2314324	773	I>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768640333 CA2314323	773	I>V		No	ClinGen ExAC gnomAD
rs1360291208 CA352102792	774	N>S		No	ClinGen gnomAD
CA2314325 rs370726292	775	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	775	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs879092617 CA72897451	778	A>S		No	ClinGen Ensembl
COSM3945429 COSM3945428 CA352103183 rs1325037107	781	M>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA72897828 rs956764023	781	M>T		No	ClinGen TOPMed
CA2314347 rs773997005	783	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2314348 rs759120426	785	S>G		No	ClinGen ExAC gnomAD
rs1240769540 CA352103410	789	I>V		No	ClinGen gnomAD
rs753275680 CA2314350	790	R>S		No	ClinGen ExAC gnomAD
rs1450148452 CA352103466	791	Y>*		No	ClinGen gnomAD
CA352103441 rs1348552109	791	Y>N		No	ClinGen gnomAD
CA352103450 rs1575195714	791	Y>S		No	ClinGen Ensembl
rs1230257469 CA352103500	793	W>*		No	ClinGen gnomAD
rs756732543 CA2314351	793	W>G		No	ClinGen ExAC
rs1230257469 CA352103503	793	W>S		No	ClinGen gnomAD
CA2314352 rs764628658	794	G>R		No	ClinGen ExAC gnomAD
rs754217453 CA2314353	795	K>R		No	ClinGen ExAC TOPMed gnomAD
rs754217453 CA352103594	795	K>T		No	ClinGen ExAC TOPMed gnomAD
CA352103670 rs1212250878	797	S>G		No	ClinGen gnomAD
CA352103681 rs1240385990	797	S>N		No	ClinGen gnomAD
CA352103726 rs1178563405	798	D>N		No	ClinGen TOPMed gnomAD
CA352103760 rs1468103779	799	C>R		No	ClinGen gnomAD
CA352103778 rs1164658808	800	H>Y		No	ClinGen gnomAD
CA352103822 rs1162598029	801	I>S		No	ClinGen gnomAD
rs201017133 CA72897849	801	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA72897850 rs1036269892	802	I>T		No	ClinGen gnomAD
rs371968998 CA2314357	805	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA72897856 rs570354937	806	P>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs369092674 CA2314359	807	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314361 rs201004506	808	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA352104042 rs1318957834	809	G>A		No	ClinGen gnomAD
CA352104025 rs1260467298	809	G>R		No	ClinGen gnomAD
rs986717741 CA72897883	810	V>F		No	ClinGen TOPMed gnomAD
CA352104079 rs1189078601	811	I>T		No	ClinGen gnomAD
rs765588572 CA352105249	812	E>D		No	ClinGen ExAC gnomAD
CA352104083 rs1237537804	812	E>K		No	ClinGen gnomAD
CA2314375 rs370530355	814	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1432888800 CA352105330	816	V>F		No	ClinGen gnomAD
rs544573116 CA72898044	817	G>R		No	ClinGen TOPMed gnomAD
CA2314378 rs572547570	820	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2314379 rs572547570	820	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs770650536 CA2314382	823	F>S		No	ClinGen ExAC gnomAD
CA352105544 rs1346568834	824	T>P		No	ClinGen gnomAD
rs1287508825 CA352105565	825	G>V		No	ClinGen gnomAD
CA2314384 rs771565596	826	G>C		No	ClinGen ExAC TOPMed gnomAD
CA72898100 rs771565596	826	G>S		No	ClinGen ExAC TOPMed gnomAD
rs775229225 CA2314386	828	P>R		No	ClinGen ExAC
rs1009640602 CA72898148	828	P>T		No	ClinGen TOPMed
rs1453057521 CA352105648	829	G>V		No	ClinGen gnomAD
CA352105706 rs1433316167	831	T>I		No	ClinGen TOPMed
CA352105725 rs1339134776	832	S>R		No	ClinGen TOPMed
CA2314387 rs760268590	833	Q>E		No	ClinGen ExAC gnomAD
rs1452466021 CA352105785	835	L>Q		No	ClinGen gnomAD
CA2314390 rs762431946	840	E>D		No	ClinGen ExAC gnomAD
rs777029914 COSM3593126 CA2314389 COSM3593125	840	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2314391 rs558094907	842	S>A		No	ClinGen ExAC TOPMed gnomAD
CA2314392 rs374132212	842	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314394 rs766601029	843	P>R		No	ClinGen ExAC TOPMed gnomAD
rs755044364 CA352105999	844	S>*		No	ClinGen ExAC gnomAD
rs755044364 COSM1203689 CA2314396 COSM1203688	844	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1559444921 CA352106029	846	V>M		No	ClinGen Ensembl
CA2314399 rs757256074	847	V>L		No	ClinGen ExAC gnomAD
CA352106092 rs1461511143	849	H>N		No	ClinGen TOPMed
rs1489357424 CA352106119	849	H>Q		No	ClinGen gnomAD
CA352106108 rs1575196963	849	H>R		No	ClinGen Ensembl
CA2314400 rs778987376	850	I>V		No	ClinGen ExAC gnomAD
CA2314401 rs745674638	852	A>V		No	ClinGen ExAC TOPMed gnomAD
rs202125600 CA2314402	853	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202125600 CA2314403	853	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs79703178 CA72898220	855	K>*		No	ClinGen Ensembl
rs867282239 CA72898229	855	K>R		No	ClinGen Ensembl
CA2314419 rs750348528	857	P>S		No	ClinGen ExAC TOPMed gnomAD
CA352106284 rs750348528	857	P>T		No	ClinGen ExAC TOPMed gnomAD
CA72898324 rs758293974	859	L>F		No	ClinGen ExAC gnomAD
rs758293974 CA2314420	859	L>V		No	ClinGen ExAC gnomAD
rs1467464848 CA352106361	861	I>M		No	ClinGen TOPMed gnomAD
rs1171766998 CA352106378	862	N>S		No	ClinGen gnomAD
CA2314422 rs746750302	863	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2314423 rs746750302	863	V>L		No	ClinGen ExAC TOPMed gnomAD
CA72898354 rs867769590	867	Q>P		No	ClinGen gnomAD
CA2314424 rs780696628	869	G>C		No	ClinGen ExAC gnomAD
rs1415036646 CA352106522	869	G>V		No	ClinGen TOPMed gnomAD
COSM54487 COSM1422686 rs370165845 CA2314426	872	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs183009787 CA2314427	872	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183009787 CA352106565	872	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749746746 CA2314428	874	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2314431 rs759812540	879	N>D		No	ClinGen ExAC TOPMed gnomAD
rs963415756 CA72898396	879	N>K		No	ClinGen Ensembl
rs1210461598 CA352106704	880	S>C		No	ClinGen gnomAD
CA2314432 rs199518243	884	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314433 rs199518243 COSM84790	884	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs971884052 CA72898397	884	R>W		No	ClinGen TOPMed gnomAD
CA2314436 rs753949751	886	V>I		No	ClinGen ExAC TOPMed gnomAD
CA352106826 rs753949751	886	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1178797938 CA352106845	887	S>G		No	ClinGen gnomAD
TCGA novel	891	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2314438 rs766415749	892	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2314439 rs201426903	894	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2314441 rs765138386	894	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765138386 CA72898424	894	R>L		No	ClinGen ExAC TOPMed gnomAD
rs201426903 CA2314440	894	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2314442 rs752250443	895	M>V		No	ClinGen ExAC gnomAD
rs1330984426 CA352107026	896	K>E		No	ClinGen Ensembl
rs1490923397 CA352107035	896	K>M		No	ClinGen TOPMed
rs371540648 CA2314443	897	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs777313385 CA2314444	898	S>T		No	ClinGen ExAC TOPMed gnomAD
rs771491848 CA2314446	899	P>L		No	ClinGen ExAC gnomAD
rs748761306 CA2314445	899	P>S		No	ClinGen ExAC gnomAD
CA2314447 rs200536832	901	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA72898459 rs746254816	901	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2314448 rs746254816	901	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2314449 rs772287564	902	L>F		No	ClinGen ExAC gnomAD
rs1367072239 CA352107187	903	Q>*		No	ClinGen TOPMed
CA2314450 rs775807262	905	R>M		No	ClinGen ExAC gnomAD
rs535023203 CA2314451	906	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1241906848 CA352107261	906	P>S		No	ClinGen gnomAD
rs747374247 CA352108366	909	V>A		No	ClinGen ExAC gnomAD
CA2314469 rs747374247	909	V>G		No	ClinGen ExAC gnomAD
rs1575202474 COSM1422687 COSM1422688 CA352108464	913	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA72900569 rs566801055	914	I>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA352108612 rs1440100252	916	P>A		No	ClinGen gnomAD
rs761990187 CA2314472	917	S>L		No	ClinGen ExAC gnomAD
CA2314476 rs767458621	918	S>G		No	ClinGen ExAC gnomAD
rs752551652 CA2314477	919	G>D		No	ClinGen ExAC gnomAD
rs760446998 CA2314478	920	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs763746382 CA2314479	921	L>F		No	ClinGen ExAC gnomAD
rs1181878453 CA352108779	921	L>H		No	ClinGen TOPMed
CA72900639 rs111306622	922	H>L		No	ClinGen Ensembl
rs1459901251 CA352108805	923	S>A		No	ClinGen TOPMed
rs756784916 CA352108906	925	G>E		No	ClinGen ExAC TOPMed gnomAD
CA352108887 rs1317614819	925	G>R		No	ClinGen gnomAD
CA2314481 rs756784916	925	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1313757718 CA352108919	926	E>*		No	ClinGen TOPMed
rs1365533577 CA352108929	926	E>G		No	ClinGen TOPMed
rs1313757718 CA352108915	926	E>K		No	ClinGen TOPMed
rs1313757718 CA352108917	926	E>Q		No	ClinGen TOPMed
CA352109107 rs1575202664	929	V>G		No	ClinGen Ensembl
rs370925052 CA2314483	930	D>G		No	ClinGen ESP ExAC gnomAD
rs1438865670 CA352109130	930	D>N		No	ClinGen TOPMed gnomAD
CA352109137 rs1438865670	930	D>Y		No	ClinGen TOPMed gnomAD
rs377229053 CA72900661	932	T>A		No	ClinGen gnomAD
rs1468339262 CA352109205	932	T>I		No	ClinGen gnomAD
CA352109187 rs377229053	932	T>P		No	ClinGen gnomAD
rs1040838311 CA72900662	933	L>M		No	ClinGen TOPMed gnomAD
rs1040838311 CA352109211	933	L>V		No	ClinGen TOPMed gnomAD
rs747394789 CA2314486	935	A>T		No	ClinGen ExAC gnomAD
rs1467840295 CA352109336	937	H>Y		No	ClinGen TOPMed
rs748328979 CA2314489	938	C>G		No	ClinGen ExAC gnomAD
CA352109463 rs1416874679	940	H>L		No	ClinGen gnomAD
rs770031749 CA2314490	940	H>N		No	ClinGen ExAC gnomAD
CA352109468 rs1323527720	940	H>Q		No	ClinGen TOPMed gnomAD
rs1355256601 CA352109504	942	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749381763 CA2314492	943	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2314495 rs760465765	944	V>A		No	ClinGen ExAC gnomAD
COSM145319 COSM145318 rs201448209 CA2314494	944	V>I	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1255317576 CA352109626	946	E>A		No	ClinGen TOPMed
CA2314496 rs763830061	946	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1435517255 CA352109651	947	L>P		No	ClinGen gnomAD
CA72900715 rs200495154	947	L>V		No	ClinGen Ensembl
CA2314497 rs776389172	949	V>M		No	ClinGen ExAC gnomAD
rs761413166 CA2314498	950	E>Q		No	ClinGen ExAC
rs1257839213 CA352109729	951	N>D		No	ClinGen gnomAD
rs764938170 CA2314499	951	N>I		No	ClinGen ExAC TOPMed gnomAD
CA352109752 rs1185606977	952	G>D		No	ClinGen gnomAD
rs749963574 CA2314500	953	A>T		No	ClinGen ExAC gnomAD
CA72900768 rs893412331	954	W>*		No	ClinGen Ensembl
rs767000484 CA2314502	954	W>*		No	ClinGen ExAC gnomAD
rs1394442888 CA352109839	955	S>T		No	ClinGen gnomAD
rs756442905 CA2314526	956	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA2314528 rs184638162	958	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2314527 rs777861082	958	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1304682463 CA352111820	961	A>G		No	ClinGen TOPMed
rs532954485 CA2314530	963	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2314531 rs777242958	964	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA352111911 rs1575215268	964	Q>L		No	ClinGen Ensembl
rs1559453551 CA352111948	965	K>N		No	ClinGen Ensembl
CA2314533 rs781053489	966	P>L		No	ClinGen ExAC gnomAD
CA2314532 rs768638188	966	P>S		No	ClinGen ExAC gnomAD
TCGA novel	966	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352111989 rs1194109295	967	H>L		No	ClinGen TOPMed gnomAD
CA2314534 rs747904527	967	H>Q		No	ClinGen ExAC gnomAD
CA352111987 rs1194109295	967	H>R		No	ClinGen TOPMed gnomAD
rs772764772 CA2314536	968	V>M		No	ClinGen ExAC gnomAD
rs762712225 CA2314537	969	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA352112181 TCGA novel rs1304260352	974	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs1316573188 CA352112194	975	V>G		No	ClinGen gnomAD
CA2314538 rs141938666	975	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774067953 CA2314539	976	E>K		No	ClinGen ExAC gnomAD
CA352112209 rs1462442434	977	V>F		No	ClinGen gnomAD
TCGA novel	978	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352112278 rs1158852974	978	R>K		No	ClinGen TOPMed
rs753180828 CA2314542	980	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760976678 CA2314543	982	L>R		No	ClinGen ExAC gnomAD
CA352112416 rs1308488644	983	G>C		No	ClinGen gnomAD
rs1336040818 CA352112458	984	V>A		No	ClinGen gnomAD
rs764469198 CA2314544	986	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750516794 CA2314548	990	I>V		No	ClinGen ExAC gnomAD
rs1272513483 CA352112757	992	L>F		No	ClinGen gnomAD
CA2314550 rs552487670	993	I>N		No	ClinGen ExAC TOPMed gnomAD
rs552487670 CA2314549	993	I>T		No	ClinGen ExAC TOPMed gnomAD
rs748073688 CA2314551	994	N>S		No	ClinGen ExAC TOPMed gnomAD
CA72906196 rs940819098	995	G>V		No	ClinGen Ensembl
rs769598423 CA2314552	996	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2314554 rs749029429	997	L>V		No	ClinGen ExAC gnomAD
TCGA novel	998	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770761792 CA2314555	999	P>S		No	ClinGen ExAC gnomAD
rs774086129 CA2314556	1000	T>I		No	ClinGen ExAC gnomAD
CA352112981 rs1559453755	1000	T>S		No	ClinGen Ensembl
CA2314557 rs759120342	1002	F>I		No	ClinGen ExAC gnomAD
CA2314558 rs771667194	1003	H>Q		No	ClinGen ExAC gnomAD
CA352113141 rs1463970072	1004	W>*		No	ClinGen TOPMed gnomAD
rs775881545 CA2314559	1005	G>S		No	ClinGen ExAC gnomAD
TCGA novel	1009	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2314573 rs372104796	1009	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA352113453 rs778738176	1010	H>N		No	ClinGen ExAC TOPMed gnomAD
rs745467006 CA2314575	1010	H>Q		No	ClinGen ExAC gnomAD
rs1312052026 CA352113466	1010	H>R		No	ClinGen gnomAD
CA2314574 rs778738176	1010	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA2314576 rs771600658	1012	A>E		No	ClinGen ExAC gnomAD
TCGA novel	1013	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374788594 CA72906816	1016	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314577 rs775134492	1016	M>L		No	ClinGen ExAC TOPMed gnomAD
rs374788594 CA2314578	1016	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA72906827 rs374788594	1016	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs775134492 CA72906811	1016	M>V		No	ClinGen ExAC TOPMed gnomAD
CA352113700 rs1190930100	1019	V>I		No	ClinGen TOPMed
rs776937563 CA2314581	1020	S>F		No	ClinGen ExAC gnomAD
CA72906842 rs965084695	1021	P>S		No	ClinGen Ensembl
CA2314582 rs36012922 VAR_056862 RCV000967996	1022	K>N		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1242723468 CA352113775	1022	K>R		No	ClinGen TOPMed
rs371770856 CA2314583	1023	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1487026648 CA352113807	1024	G>D		No	ClinGen gnomAD
CA2314585 rs763205177	1027	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1166245740 CA352113870	1028	P>S		No	ClinGen gnomAD
CA352113906 rs1396288279	1030	E>K		No	ClinGen TOPMed gnomAD
CA2314587 rs751715894	1031	E>K		No	ClinGen ExAC gnomAD
rs1174854591 CA352113942	1031	E>V		No	ClinGen gnomAD
CA352113976 rs1357241063	1032	C>G		No	ClinGen gnomAD
CA2314588 rs754950538	1032	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA2314590 rs753785869	1036	L>V		No	ClinGen ExAC gnomAD
CA2314591 rs757138940	1037	E>*		No	ClinGen ExAC gnomAD
rs778899488 CA2314592	1037	E>D		No	ClinGen ExAC
CA352114094 rs1296761135	1039	T>N		No	ClinGen TOPMed gnomAD
CA2314593 rs528443591	1040	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551789211 CA72906902	1042	T>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs1348612164 CA352114156	1043	Q>L		No	ClinGen gnomAD
CA352114292 rs1166790185	1044	E>D		No	ClinGen gnomAD
rs779788460 CA2314614	1045	E>D		No	ClinGen ExAC TOPMed gnomAD
CA352114305 rs1395191509	1045	E>G		No	ClinGen gnomAD
CA2314615 rs751127131	1047	T>I		No	ClinGen ExAC gnomAD
CA72907530 rs779072522	1048	H>Y		No	ClinGen Ensembl
CA352114419 rs1348822235	1052	P>L		No	ClinGen gnomAD
CA72907552 rs752765166	1052	P>S		No	ClinGen Ensembl
rs1235581447 CA352114432	1053	C>F		No	ClinGen gnomAD
rs747655492 CA2314618	1054	H>Y		No	ClinGen ExAC gnomAD
CA2314620 rs200506270	1055	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1332950331 CA352114544	1058	M>I		No	ClinGen TOPMed
CA352114517 rs1403186759	1058	M>V		No	ClinGen TOPMed
rs749664533 CA2314621	1060	K>E		No	ClinGen ExAC gnomAD
rs771157146 CA2314622	1061	P>S		No	ClinGen ExAC TOPMed gnomAD
CA352114618 rs1404938320	1062	L>P		No	ClinGen TOPMed
rs1161419837 CA352114621	1063	V>L		No	ClinGen gnomAD
rs1384894150 CA352114705	1068	G>E		No	ClinGen gnomAD
rs915944030 CA72907603	1068	G>R		No	ClinGen Ensembl
TCGA novel	1069	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774654314 CA2314623	1070	P>L		No	ClinGen ExAC gnomAD
CA72907607 rs970445517	1070	P>S		No	ClinGen Ensembl
TCGA novel	1071	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1425531853 CA352114803	1073	L>V		No	ClinGen TOPMed gnomAD
CA2314625 rs377344064	1074	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1391234965 CA352114929	1079	I>V		No	ClinGen TOPMed
rs760781337 CA2314628	1083	S>G		No	ClinGen ExAC gnomAD
CA2314629 rs536644848	1083	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1307472596 CA352115142	1086	C>G		No	ClinGen gnomAD
CA2314631 rs141902795	1087	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352115164 rs1369007027	1087	S>R		No	ClinGen gnomAD
CA2314652 rs767159241	1088	T>A		No	ClinGen ExAC TOPMed gnomAD
COSM1044116 COSM1044117 CA352090644 rs1198574620	1089	E>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA2314653 rs41285111	1091	W>*		No	ClinGen ExAC TOPMed gnomAD
CA352090667 rs41285111	1091	W>L		No	ClinGen ExAC TOPMed gnomAD
rs146537500 CA72861871 COSM110606	1095	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1187792413 CA352090717	1096	K>Q		No	ClinGen gnomAD
CA2314656 rs753358425	1097	E>D		No	ClinGen ExAC gnomAD
CA2314657 rs757769224	1099	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM84791 rs779419948 CA2314658	1099	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1464723456 TCGA novel CA352090763	1101	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs372624222 CA2314660	1103	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780446743 CA2314661	1105	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2314663 rs768972802	1106	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768972802 CA72861893	1106	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2314664 rs776644757	1107	P>L		No	ClinGen ExAC
TCGA novel	1109	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2314665 rs748249528	1110	T>A		No	ClinGen ExAC gnomAD
CA2314666 rs200013784	1111	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2314668 rs371147939	1111	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371147939 CA2314667	1111	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA352090816 rs371147939	1111	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA72861901 rs764209399	1112	V>A		No	ClinGen Ensembl
rs374139473 CA2314669	1112	V>M		No	ClinGen ESP ExAC gnomAD
CA2314671 rs191665258	1114	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2314672 rs368500201	1114	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368500201 CA352090829	1114	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314673 rs368500201	1114	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA352090844 rs1559456771	1117	I>L		No	ClinGen Ensembl
rs199805261 CA2314674	1121	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA352090873 rs765693928	1121	R>H		No	ClinGen ExAC gnomAD
CA2314675 rs765693928	1121	R>L		No	ClinGen ExAC gnomAD
CA2314676 rs538480489	1123	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA72861911 rs538480489	1123	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780608340 CA2314678	1125	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs558780034 CA2314677	1125	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2314680 rs562443377	1127	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2314681 rs201215546	1127	R>H		No	ClinGen ExAC TOPMed gnomAD
CA72861926 rs202096885	1130	L>R		No	ClinGen 1000Genomes
rs1389311201 CA352091117	1131	K>E		No	ClinGen gnomAD
CA72861928 rs374651301	1132	F>S		No	ClinGen ESP TOPMed
CA2314682 rs748177147	1133	E>Q		No	ClinGen ExAC gnomAD
CA352091185 rs12630114	1134	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA72861932 rs946598968	1134	Y>S		No	ClinGen TOPMed
CA2314684 rs778735114	1135	F>L		No	ClinGen ExAC gnomAD
CA2314686 rs745851171	1135	F>L		No	ClinGen ExAC TOPMed gnomAD
rs371612336 CA2314687	1136	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA352091234 rs1245340086	1137	S>N		No	ClinGen gnomAD
rs934995891 CA72861939	1139	Q>H		No	ClinGen gnomAD
rs760449318 CA2314688	1141	S>N		No	ClinGen ExAC gnomAD
rs776308027 CA2314690	1143	S>N		No	ClinGen ExAC
rs761253691 CA2314691	1143	S>R		No	ClinGen ExAC
rs1056176795 CA72861945	1144	K>E		No	ClinGen TOPMed
COSM1044121 COSM1044120 CA2314692 rs764852314	1145	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2314694 rs201822060	1146	T>P		No	ClinGen ExAC gnomAD
CA72861953 rs898595374	1147	S>N		No	ClinGen TOPMed gnomAD
rs376704576 CA72861955	1148	L>P		No	ClinGen ESP gnomAD
CA352091985 rs1185676949	1149	P>L		No	ClinGen gnomAD
CA2314716 rs9840172 RCV000966856 VAR_056863	1150	N>D		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1364481220 CA352091989	1150	N>S		No	ClinGen TOPMed gnomAD
rs767972036 CA2314717	1151	M>T		No	ClinGen ExAC gnomAD
rs375454649 CA2314719	1152	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs752969922 CA2314718	1152	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1254626040 CA352092007	1153	P>S		No	ClinGen gnomAD
CA352092014 rs1487139824	1154	A>D		No	ClinGen TOPMed gnomAD
rs1487139824 CA352092016	1154	A>V		No	ClinGen TOPMed gnomAD
CA2314721 rs753927505	1156	L>P		No	ClinGen ExAC gnomAD
CA2314722 rs757259340	1158	T>A		No	ClinGen ExAC gnomAD
rs1186096312 CA352092039	1158	T>I		No	ClinGen gnomAD
CA2314724 rs747000589	1159	V>A		No	ClinGen ExAC TOPMed gnomAD
rs779989939 CA2314723	1159	V>M		No	ClinGen ExAC gnomAD
CA2314726 rs781111908	1160	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2314725 COSM1044127 COSM1044126 rs201252799	1160	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA352092057 rs1321092472	1162	Q>E		No	ClinGen gnomAD
CA72862556 rs971847931	1163	E>K		No	ClinGen TOPMed gnomAD
rs200205214 CA2314727	1165	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA2314728 rs769503435	1165	L>R		No	ClinGen ExAC gnomAD
CA2314730 rs748835586	1168	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2314731 rs770512426	1168	R>Q		No	ClinGen ExAC gnomAD
rs1469432284 CA352092102	1169	E>G		No	ClinGen TOPMed
CA352092100 rs1319057018	1169	E>K		No	ClinGen TOPMed gnomAD
rs760126654 CA2314733	1170	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2314732 rs773974314	1170	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs767905086 CA2314734	1172	D>N		No	ClinGen ExAC gnomAD
CA352092148 rs377030183	1174	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1044128 COSM1044129 CA2314763 rs377030183	1174	M>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA352092146 rs1227303281	1174	M>V		No	ClinGen TOPMed gnomAD
CA352092153 rs1553623530	1175	E>K		No	ClinGen Ensembl
CA2314765 rs757027066	1176	S>R		No	ClinGen ExAC TOPMed gnomAD
CA72862844 rs76442459	1177	M>I		No	ClinGen TOPMed gnomAD
CA72862841 rs1032556502	1177	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs73827604 CA2314766	1177	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352092195 rs1182731603	1181	G>E		No	ClinGen gnomAD
CA2314768 rs576735155	1181	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs988112963 CA72862855	1183	G>A		No	ClinGen gnomAD
CA2314769 rs779594014	1183	G>R		No	ClinGen ExAC gnomAD
rs1180196884 CA352092243	1188	P>L		No	ClinGen gnomAD
CA352092247 rs1430666579	1189	H>R		No	ClinGen gnomAD
CA2314770 rs747510949	1189	H>Y		No	ClinGen ExAC gnomAD
rs769148934 CA2314771	1190	F>S		No	ClinGen ExAC TOPMed gnomAD
rs762109737 CA2314773	1191	S>P		No	ClinGen ExAC gnomAD
rs767624338 CA72862866	1192	Q>*		No	ClinGen Ensembl
rs913928620 CA72862874	1192	Q>H		No	ClinGen TOPMed
CA2314775 rs202127546	1192	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2314776 rs562227740	1193	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA2314777 rs763120606	1194	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1296933707 CA352092287	1196	G>R		No	ClinGen TOPMed
CA352092295 rs1402164339	1197	P>H		No	ClinGen TOPMed
CA2314780 rs751623829	1199	Q>R		No	ClinGen ExAC gnomAD
CA2314782 rs764107085	1203	I>T		No	ClinGen ExAC gnomAD
CA2314781 rs760758839	1203	I>V		No	ClinGen ExAC gnomAD
rs1396150593 CA352092391	1206	T>I		No	ClinGen gnomAD
rs757043713 CA2314784	1210	N>K		No	ClinGen ExAC gnomAD
CA2314783 rs753697421	1210	N>T		No	ClinGen ExAC gnomAD
rs1207873326 CA352092453	1211	M>T		No	ClinGen gnomAD
rs1312480915 CA352092446	1211	M>V		No	ClinGen TOPMed
rs749994266 CA2314786	1214	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1187976466 CA352092506	1215	Y>C		No	ClinGen TOPMed gnomAD
CA352092527 rs1475135393	1216	W>C		No	ClinGen TOPMed
rs1559459746 CA352092530	1217	D>H		No	ClinGen Ensembl
TCGA novel	1218	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2314789 rs750626817	1220	I>T		No	ClinGen ExAC TOPMed gnomAD
CA352092603 rs1282059226	1222	T>M		No	ClinGen TOPMed gnomAD
CA352093192 rs1575230500	1225	D>A		No	ClinGen Ensembl
rs765208286 CA2314823	1225	D>E		No	ClinGen ExAC gnomAD
CA352093190 rs1448191288	1225	D>H		No	ClinGen TOPMed
CA2314824 rs772897773	1226	L>M		No	ClinGen ExAC gnomAD
CA2314825 rs9810085 RCV000966858 VAR_056864	1227	L>P		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs202226243 CA2314826	1228	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314828 rs754607433	1232	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs767050702 CA2314829	1234	H>R		No	ClinGen ExAC gnomAD
rs756633872 CA2314831	1235	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1252915440 CA352093288	1235	M>V		No	ClinGen gnomAD
CA2314832 rs372692977	1237	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA352093337 rs1575230652	1238	V>G		No	ClinGen Ensembl
rs1459034936 CA352093354	1240	C>G		No	ClinGen gnomAD
CA2314834 rs757600043	1242	I>N		No	ClinGen ExAC gnomAD
rs1575230720 CA352093450	1248	T>P		No	ClinGen Ensembl
rs1350834658 CA352093470	1249	S>C		No	ClinGen gnomAD
CA352093465 rs1338693486	1249	S>P		No	ClinGen TOPMed
rs958339784 CA72863752	1251	T>A		No	ClinGen TOPMed gnomAD
CA352093507 rs1304837536	1252	I>T		No	ClinGen gnomAD
rs1559461786 CA352093501	1252	I>V		No	ClinGen Ensembl
rs866451837 CA72863753 CA352093523	1253	D>E		No	ClinGen TOPMed
rs1168316047 CA352093533	1254	Q>R		No	ClinGen TOPMed
CA2314838 rs775771545	1256	Q>E		No	ClinGen ExAC gnomAD
CA352093560 rs1245691740	1256	Q>R		No	ClinGen gnomAD
CA2314839 rs370048382	1257	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs373991454 CA2314840	1257	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314842 rs762681914	1258	E>D		No	ClinGen ExAC gnomAD
rs773163523 CA2314841	1258	E>K		No	ClinGen ExAC gnomAD
rs770766234 CA2314844	1259	P>A		No	ClinGen ExAC TOPMed gnomAD
rs770766234 CA2314843	1259	P>S		No	ClinGen ExAC TOPMed gnomAD
rs759248381 CA2314845	1260	A>T		No	ClinGen ExAC gnomAD
rs1197353791 CA352093609	1261	M>T		No	ClinGen TOPMed
CA352093724 rs1575232143	1263	F>V		No	ClinGen Ensembl
CA2314875 rs377589180	1264	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314876 rs755120222	1265	T>A		No	ClinGen ExAC gnomAD
CA2314878 rs748167040	1267	V>G		No	ClinGen ExAC gnomAD
rs781395680 CA2314877	1267	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1446309240 CA352093800	1269	G>E		No	ClinGen TOPMed
CA2314881 rs753247598 CA2314880	1269	G>R		No	ClinGen ExAC TOPMed gnomAD
rs771806931 CA2314882	1270	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2314883 rs771806931	1270	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2314884 rs746716451	1271	D>E		No	ClinGen ExAC TOPMed gnomAD
rs776218224 CA2314887	1272	T>I		No	ClinGen ExAC gnomAD
rs776218224 CA2314886	1272	T>R		No	ClinGen ExAC gnomAD
CA352093846 rs1295548257	1273	V>I		No	ClinGen TOPMed gnomAD
rs969120310 CA72864089	1274	T>A		No	ClinGen TOPMed gnomAD
CA352093860 rs1358330255	1274	T>I		No	ClinGen TOPMed
rs373803738 CA2314889	1275	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs373803738 CA352093865	1275	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs200604389 COSM3696058 COSM3696057 CA2314890	1275	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs368830503 CA2314892	1276	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA352093874 rs1559462590	1276	T>P		No	ClinGen Ensembl
rs992633892 CA72864098	1277	L>F		No	ClinGen TOPMed gnomAD
CA2314895 rs2073713	1278	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2314896 rs752782524	1278	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2314897 rs752782524	1278	R>L		No	ClinGen ExAC TOPMed gnomAD
CA352093923 rs1213003631	1280	N>S		No	ClinGen gnomAD
CA352093961 rs758301591	1283	S>C		No	ClinGen ExAC gnomAD
CA2314900 rs758301591	1283	S>G		No	ClinGen ExAC gnomAD
CA352094706 rs1559464011	1287	I>V		No	ClinGen Ensembl
rs369973420 CA2314926	1288	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314925 rs369973420	1288	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs749998962 CA2314927	1288	R>H		No	ClinGen ExAC TOPMed gnomAD
rs760954387 CA2314931	1290	D>A		No	ClinGen ExAC gnomAD
CA2314930 rs775802710	1290	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2314932 rs760954387	1290	D>V		No	ClinGen ExAC gnomAD
CA2314933 rs753919121	1291	W>*		No	ClinGen ExAC gnomAD
CA352094844 rs1575235682	1293	T>P		No	ClinGen Ensembl
rs1248353920 CA352094915	1296	P>S		No	ClinGen TOPMed
rs866688898 CA72864911	1298	D>G		No	ClinGen Ensembl
rs1167711698 CA352094953	1298	D>H		No	ClinGen TOPMed gnomAD
CA352094978 rs1416683266	1299	K>E		No	ClinGen gnomAD
rs566242634 CA2314939	1302	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754911372 CA2314938	1302	R>W		No	ClinGen ExAC TOPMed gnomAD
rs200307012 CA352095089	1304	V>A		No	ClinGen ExAC gnomAD
rs200307012 CA2314940	1304	V>G		No	ClinGen ExAC gnomAD
rs201083984 CA2314941	1305	E>G		No	ClinGen ExAC gnomAD
rs1337162631 CA352095122	1306	L>R		No	ClinGen gnomAD
rs1269402692 CA352095119	1306	L>V		No	ClinGen gnomAD
rs777504635 CA2314942	1307	L>P		No	ClinGen ExAC gnomAD
rs748864905 CA2314944	1308	V>A		No	ClinGen ExAC gnomAD
CA2314943 rs748864905	1308	V>G		No	ClinGen ExAC gnomAD
CA352095138 rs1263738412	1308	V>L		No	ClinGen gnomAD
CA352095152 rs1201853385	1309	F>I		No	ClinGen TOPMed gnomAD
CA352095149 rs1201853385	1309	F>V		No	ClinGen TOPMed gnomAD
rs1039617504 CA72864928	1310	Y>H		No	ClinGen gnomAD
rs1559464249	1310	Y>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA352095202 rs746404799	1312	P>A		No	ClinGen ExAC gnomAD
CA2314947 rs772630777	1312	P>L		No	ClinGen ExAC gnomAD
CA2314946 rs746404799	1312	P>S		No	ClinGen ExAC gnomAD
CA2314949 rs760972466	1313	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2314950 rs768897637	1314	F>L		No	ClinGen ExAC gnomAD
CA352095232 rs1575235986	1314	F>V		No	ClinGen Ensembl
rs145839001 CA72864939	1315	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145839001 CA2314951	1315	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377159175 CA2314954	1317	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2314953 rs180732382	1317	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2314956 rs759447141	1319	Q>E		No	ClinGen ExAC gnomAD
rs759447141 CA2314955	1319	Q>K		No	ClinGen ExAC gnomAD
CA2314957 rs752541868	1319	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs777594196 CA2314959	1321	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1018501743 CA72864956	1323	E>K		No	ClinGen TOPMed
CA352095343 rs1448723134	1324	L>V		No	ClinGen TOPMed
CA352095358 rs868475191	1325	V>L		No	ClinGen TOPMed gnomAD
CA72864959 rs868475191	1325	V>M		No	ClinGen TOPMed gnomAD
CA2314961 rs756904133	1326	C>W		No	ClinGen ExAC gnomAD
rs1236508221 CA352095377	1326	C>Y		No	ClinGen TOPMed
rs1259985887 CA352095388	1327	P>S		No	ClinGen gnomAD
CA2314962 rs778356627	1328	D>H		No	ClinGen ExAC TOPMed gnomAD
CA72864965 rs778356627	1328	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1443809314 CA352095422	1329	T>P		No	ClinGen TOPMed
rs1443809314 CA352095427	1329	T>S		No	ClinGen TOPMed
TCGA novel	1331	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs980241892 CA72864971	1333	G>D		No	ClinGen Ensembl
rs374117049 CA2314966	1337	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs374117049 CA2314967	1337	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376194404 CA2314968	1338	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA352095607 rs1157475292	1339	P>A		No	ClinGen gnomAD
CA352095613 rs1382325419	1339	P>L		No	ClinGen gnomAD
rs1406679769 CA352095622	1340	G>C		No	ClinGen gnomAD
CA2314969 rs748383368	1341	P>L		No	ClinGen ExAC gnomAD
CA352095638 rs1303558465	1341	P>S		No	ClinGen gnomAD
rs767597339 CA2314973	1345	S>L		No	ClinGen ExAC gnomAD
rs763019244 CA2314972	1345	S>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1347	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760670827 CA2314975	1348	S>N		No	ClinGen ExAC gnomAD
CA72864986 rs918630362	1349	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	1350	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1291549061 CA352095820	1351	T>S		No	ClinGen gnomAD
rs764023384 CA2314976	1352	D>N		No	ClinGen ExAC gnomAD
rs1184763038 CA352095836	1354	S>P		No	ClinGen gnomAD
rs756455564 CA2315007	1355	V>A		No	ClinGen ExAC gnomAD
CA352095853 rs1336083845	1355	V>I		No	ClinGen gnomAD
rs755210596 CA72865127	1356	E>D		No	ClinGen TOPMed gnomAD
CA2315008 rs777982201	1356	E>K		No	ClinGen ExAC gnomAD
rs1559464894 CA352095867	1357	G>D		No	ClinGen Ensembl
rs1225673313 CA352095878	1359	S>P		No	ClinGen gnomAD
rs1253269039 CA352095892	1361	A>T		No	ClinGen TOPMed
CA2315010 rs200788402	1362	S>N		No	ClinGen ExAC gnomAD
rs779193797 CA2315011	1363	N>D		No	ClinGen ExAC gnomAD
rs371732011 CA2315012	1363	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187868636 CA352095920	1365	V>M		No	ClinGen gnomAD
CA352095929 rs1427759117	1366	A>V		No	ClinGen gnomAD
rs1224212103 CA352095932	1367	Q>*		No	ClinGen TOPMed
CA2315016 rs761633719	1369	L>F		No	ClinGen ExAC gnomAD
rs1175821479 CA352095956	1370	I>M		No	ClinGen gnomAD
CA2315017 rs769670779	1370	I>T		No	ClinGen ExAC gnomAD
rs772985931 CA2315018	1371	S>P		No	ClinGen ExAC gnomAD
rs762650279 CA2315019	1372	V>A		No	ClinGen ExAC gnomAD
rs995710881 CA72865167	1374	L>P		No	ClinGen TOPMed gnomAD
rs369061348 CA2315023	1378	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs751070998 CA2315022	1378	E>K		No	ClinGen ExAC gnomAD
rs1262000861 CA352096011	1379	G>V		No	ClinGen gnomAD
CA352096014 rs1575237127	1380	V>E		No	ClinGen Ensembl
rs753299575 CA2315025	1380	V>L		No	ClinGen ExAC TOPMed gnomAD
rs753299575 CA352096012	1380	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1184571370 CA352096022	1381	P>L		No	ClinGen gnomAD
rs778269653 CA2315027	1381	P>S		No	ClinGen ExAC gnomAD
CA2315028 rs754242819	1382	S>P		No	ClinGen ExAC gnomAD
rs192111270 CA2315030	1383	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745977161 CA2315031	1384	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA352096040 rs1402581946	1385	L>M		No	ClinGen gnomAD
rs963196407 CA72865191	1387	C>S		No	ClinGen TOPMed gnomAD
rs963196407 CA352096068	1387	C>Y		No	ClinGen TOPMed gnomAD
CA72865194 rs974361179	1389	S>G		No	ClinGen TOPMed gnomAD
rs772241384 CA2315032	1389	S>N		No	ClinGen ExAC gnomAD
rs779966796 CA2315033	1390	P>S		No	ClinGen ExAC gnomAD
CA2315058 rs774106027	1394	V>L		No	ClinGen ExAC gnomAD
rs745602867 CA2315059	1395	V>A		No	ClinGen ExAC gnomAD
CA2315061 rs375039989	1398	G>E		No	ClinGen ESP ExAC gnomAD
rs1301387146 CA352096322	1398	G>R		No	ClinGen gnomAD
CA2315062 rs915645	1399	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA72865286 rs868125952	1399	G>S		No	ClinGen Ensembl
CA72865291 rs915645	1399	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764730702 CA2315063	1401	S>N		No	ClinGen ExAC gnomAD
CA352096383 rs1200035307	1403	I>M		No	ClinGen TOPMed
rs762378159 CA2315065	1403	I>S		No	ClinGen ExAC TOPMed gnomAD
rs762378159 CA2315066	1403	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2315067 rs750740266	1408	T>I		No	ClinGen ExAC TOPMed gnomAD
CA72865302 rs201259323	1410	M>T		No	ClinGen TOPMed
CA2315068 rs758659719	1410	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1415	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352096538 rs1272278639	1415	E>G		No	ClinGen gnomAD
CA2315071 rs183588842	1416	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576721247 CA2315072	1417	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1360461195 CA352096574	1418	H>P		No	ClinGen gnomAD
rs1360461195 CA352096573	1418	H>R		No	ClinGen gnomAD
rs757185390 CA2315074	1419	K>M		No	ClinGen ExAC TOPMed gnomAD
rs757185390 CA352096590	1419	K>R		No	ClinGen ExAC TOPMed gnomAD
rs745595991 CA2315076	1420	V>M		No	ClinGen ExAC TOPMed gnomAD
CA352096635 rs774965381	1422	C>F		No	ClinGen ExAC gnomAD
rs771760880 CA2315078	1422	C>R		No	ClinGen ExAC TOPMed gnomAD
rs774965381 CA2315079	1422	C>Y		No	ClinGen ExAC gnomAD
CA2315080 rs145727886	1423	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352096660 rs1288970318	1424	G>D		No	ClinGen gnomAD
CA72865343 rs764940358	1425	Y>H		No	ClinGen gnomAD
TCGA novel	1426	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1044137 CA72865350 COSM1044136 rs898667241	1426	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA352096696 rs1358058298	1427	L>Q		No	ClinGen gnomAD
CA352096735 rs1451242569	1430	M>K		No	ClinGen TOPMed gnomAD
CA352096737 rs1451242569	1430	M>T		No	ClinGen TOPMed gnomAD
CA2315082 rs776275074	1431	S>T		No	ClinGen ExAC gnomAD
CA2315084 rs780382415	1434	S>R		No	ClinGen ExAC TOPMed gnomAD
CA72865441 rs1046343380	1436	V>E		No	ClinGen Ensembl
rs1432421385 CA352096941	1441	P>L		No	ClinGen Ensembl
CA72865449 rs202210	1442	G>R		No	ClinGen Ensembl
rs762407524 CA72865451	1444	R>G		No	ClinGen gnomAD
CA352096972 rs762407524	1444	R>W		No	ClinGen gnomAD
rs1037473678 CA72865454	1445	H>Y		No	ClinGen gnomAD
CA2315107 rs551341227	1446	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352097003 rs551341227	1446	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767672428 CA2315108	1446	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352097026 rs1268888485	1448	Q>*		No	ClinGen gnomAD
CA2315110 rs760706733	1449	D>H		No	ClinGen ExAC gnomAD
CA2315111 rs765243011	1450	F>L		No	ClinGen ExAC gnomAD
TCGA novel	1451	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2315112 rs750378238	1451	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs977286202 CA72865479	1454	P>L		No	ClinGen TOPMed gnomAD
rs977286202 CA352097109	1454	P>R		No	ClinGen TOPMed gnomAD
rs1315118470 CA352097124	1456	K>Q		No	ClinGen TOPMed gnomAD
CA72865489 rs993249957	1460	H>R		No	ClinGen gnomAD
rs1384957444 CA352097231	1461	S>N		No	ClinGen TOPMed gnomAD
CA352097233 rs1384957444	1461	S>T		No	ClinGen TOPMed gnomAD
rs199537711 CA72865495	1463	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs754682152 CA2315117	1464	R>K		No	ClinGen ExAC gnomAD
CA2315119 rs747680301	1465	P>L		No	ClinGen ExAC gnomAD
CA2315118 rs780951599	1465	P>S		No	ClinGen ExAC TOPMed gnomAD
rs372781636 CA2315120	1466	A>P		No	ClinGen ESP ExAC TOPMed
rs372781636 CA352097341	1466	A>T		No	ClinGen ESP ExAC TOPMed
CA2315164 rs780409257	1468	L>P		No	ClinGen ExAC gnomAD
rs1310123131 CA352097572	1469	S>G		No	ClinGen gnomAD
rs747330545 CA2315165	1469	S>N		No	ClinGen ExAC gnomAD
CA352097590 rs1260902817	1470	V>L		No	ClinGen TOPMed gnomAD
CA352097585 rs1260902817	1470	V>M		No	ClinGen TOPMed gnomAD
rs1334902170 CA352097615	1472	L>V		No	ClinGen TOPMed
CA352097656 rs1271053107	1475	G>C		No	ClinGen TOPMed gnomAD
CA352097653 rs1271053107	1475	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs372398323 CA2315168	1476	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs202014340 CA2315169	1477	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2315170 rs773418505	1478	M>K		No	ClinGen ExAC TOPMed gnomAD
rs773418505 CA352097721	1478	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1420917168 CA352097713	1478	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775432505 CA2315173	1481	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2315172 rs570237264	1481	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1366794985 CA352097876	1485	S>R		No	ClinGen gnomAD
CA352097906 rs1271903221	1487	L>F		No	ClinGen TOPMed
CA352097927 rs753576346	1490	E>D		No	ClinGen ExAC gnomAD
rs370289865 CA2315175	1490	E>K		No	ClinGen ExAC TOPMed gnomAD
rs370289865 CA72865745	1490	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1490	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2315177 rs761341598	1492	P>L		No	ClinGen ExAC gnomAD
rs1378689718 CA352097957	1493	C>Y		No	ClinGen TOPMed
CA2315178 rs764795593	1495	G>R		No	ClinGen ExAC TOPMed
rs1575240148 CA352098383	1496	V>G		No	ClinGen Ensembl
CA2315198 rs762399849	1497	L>P		No	ClinGen ExAC gnomAD
rs961353657 CA72867395	1498	S>N		No	ClinGen TOPMed gnomAD
rs928210114 CA72867396	1499	E>K		No	ClinGen TOPMed
CA352098477 rs1575240192	1501	V>G		No	ClinGen Ensembl
CA352098494 rs1486981116	1502	T>N		No	ClinGen TOPMed
CA352098517 rs1243919356	1503	T>S		No	ClinGen gnomAD
rs755432730 CA2315202	1504	H>D		No	ClinGen ExAC gnomAD
CA352098549 rs1209575612	1505	H>D		No	ClinGen TOPMed
rs1170824943 CA352098722	1510	N>S		No	ClinGen gnomAD
rs1398961846 CA352098752	1511	T>A		No	ClinGen gnomAD
CA352098770 rs1304118692	1512	T>A		No	ClinGen TOPMed
rs756411902 CA2315205	1512	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2315206 rs527631385	1514	I>S		No	ClinGen 1000Genomes ExAC
rs780256944 CA72867431	1516	H>N		No	ClinGen Ensembl
CA352098861 rs1414688616	1516	H>R		No	ClinGen TOPMed gnomAD
CA352098880 rs1335725581	1517	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1340633336 CA352098885	1518	F>I		No	ClinGen gnomAD
rs1340633336 CA352098891	1518	F>V		No	ClinGen gnomAD
CA2315210 rs370658013 COSM3721485 COSM3721486	1519	R>Q	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs191295622 CA2315209	1519	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768465509 CA352098952	1521	M>K		No	ClinGen ExAC gnomAD
CA2315212 rs768465509	1521	M>T		No	ClinGen ExAC gnomAD
CA2315211 rs747035878	1521	M>V		No	ClinGen ExAC gnomAD
rs1257298972 CA352098972	1522	V>I		No	ClinGen gnomAD
rs776500026 CA2315213	1524	R>K		No	ClinGen ExAC gnomAD
rs1205572651 CA352099043	1525	P>L		No	ClinGen TOPMed gnomAD
CA352099032 rs1300555082	1525	P>T		No	ClinGen TOPMed
rs369660043 CA2315217	1528	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1193603884 CA352099175	1531	D>E		No	ClinGen gnomAD
CA2315218 rs762561444	1531	D>H		No	ClinGen ExAC gnomAD
rs765977593 CA2315219	1533	A>G		No	ClinGen ExAC TOPMed gnomAD
CA352099193 rs1428409958	1533	A>T		No	ClinGen TOPMed
rs765977593 CA2315220	1533	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1402541963 CA352099208	1534	S>T		No	ClinGen gnomAD
CA72867457 rs944721227	1535	Q>R		No	ClinGen TOPMed gnomAD
CA2315223 rs753139739 CA72867463	1536	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2315222 rs767843740	1536	D>N		No	ClinGen ExAC TOPMed gnomAD
rs756501674 CA2315224	1537	H>R		No	ClinGen ExAC gnomAD
CA352099291 rs1338244413	1541	G>S		No	ClinGen gnomAD
rs1225496570 CA352099307	1542	P>S		No	ClinGen gnomAD
rs764534423 CA2315225	1543	G>D		No	ClinGen ExAC gnomAD
CA352099383 rs1344632490	1546	Q>*		No	ClinGen gnomAD
rs1286548935 CA352099408	1547	E>A		No	ClinGen TOPMed gnomAD
rs1575240637 CA352099433	1548	C>G		No	ClinGen Ensembl
rs1212860478 CA352099446	1548	C>W		No	ClinGen TOPMed
CA2315228 rs200092885	1548	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA2315230 rs745880088	1550	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1377665341 CA352099496	1551	E>D		No	ClinGen gnomAD
CA2315231 rs199826507	1551	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2315233 rs780941716	1553	A>G		No	ClinGen ExAC gnomAD
CA2315232 COSM280412 rs780941716 COSM280413	1553	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1170467980 CA352099538	1555	A>S		No	ClinGen TOPMed gnomAD
CA2315234 rs200651210	1555	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs983048245 CA72867500	1557	K>E		No	ClinGen TOPMed gnomAD
rs777756430 CA72867505	1557	K>R		No	ClinGen Ensembl
TCGA novel	1559	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352099617 rs1370557343	1560	V>A		No	ClinGen TOPMed
CA352099614 rs1370557343	1560	V>G		No	ClinGen TOPMed
CA352099609 rs1324083876	1560	V>M		No	ClinGen gnomAD
rs1330624134 CA352099639	1562	Q>*		No	ClinGen gnomAD
CA352099659 rs1231089387	1563	A>T		No	ClinGen gnomAD
rs201948826 CA2315237	1564	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2315238 rs773914109	1565	E>K		No	ClinGen ExAC gnomAD
CA352099703 rs773914109	1565	E>Q		No	ClinGen ExAC gnomAD
rs1239951260 CA352099726	1566	N>D		No	ClinGen gnomAD
CA352099812 rs1284293128	1568	L>M		No	ClinGen gnomAD
CA352101056 rs745512889	1571	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2315258 rs745512889	1571	V>M		No	ClinGen ExAC TOPMed gnomAD
rs771523157 CA2315259	1572	S>P		No	ClinGen ExAC gnomAD
rs1218144645 CA352101063	1572	S>Y		No	ClinGen TOPMed
rs775135527 CA2315261	1575	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2315262 rs761325907	1576	S>P		No	ClinGen ExAC gnomAD
rs200421560 CA72868574	1578	E>G		No	ClinGen 1000Genomes
CA2315263 rs769230542	1579	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1230304029 CA352101108	1580	L>F		No	ClinGen gnomAD
CA2315265 rs373011676	1582	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs777142663 CA2315264	1582	Y>D		No	ClinGen ExAC TOPMed
rs1197387308 CA352101142	1585	L>F		No	ClinGen gnomAD
CA352101141 rs1197387308	1585	L>V		No	ClinGen gnomAD
CA352101222 rs1403971484	1590	T>I		No	ClinGen TOPMed
CA352101225 rs750648276	1591	L>M		No	ClinGen ExAC TOPMed gnomAD
CA2315267 rs750648276	1591	L>V		No	ClinGen ExAC TOPMed gnomAD
rs763227840 CA2315268	1593	G>A		No	ClinGen ExAC gnomAD
CA352101249 rs1200875294	1593	G>R		No	ClinGen gnomAD
TCGA novel	1593	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs577919194 CA352101264	1594	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs577919194 CA2315269	1594	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA352101297 rs1424179500	1596	I>M		No	ClinGen gnomAD
CA72868614 rs1021732359	1596	I>T		No	ClinGen Ensembl
rs1196399887 CA352101303	1597	Q>*		No	ClinGen TOPMed
rs1276008652 CA352101319	1598	Q>*		No	ClinGen Ensembl
rs1341793303 CA352101327	1598	Q>L		No	ClinGen gnomAD
rs1477537424 CA352101336	1599	S>G		No	ClinGen gnomAD
CA352101352 rs1575245692	1600	A>T		No	ClinGen Ensembl
CA72868618 rs917378702	1600	A>V		No	ClinGen TOPMed gnomAD
CA352101379 rs1559469171	1602	G>R		No	ClinGen Ensembl
CA352101395 rs1466721980	1603	E>K		No	ClinGen gnomAD
rs377654373 CA352101412	1604	R>K		No	ClinGen ESP ExAC gnomAD
rs377654373 CA2315274	1604	R>T		No	ClinGen ESP ExAC gnomAD
rs1271083852 CA352101462	1606	M>R		No	ClinGen TOPMed
CA72868630 rs1044432949	1608	F>V		No	ClinGen TOPMed gnomAD
rs1217544703 CA352101607	1611	N>K		No	ClinGen gnomAD
CA352101602 rs1340446668	1611	N>T		No	ClinGen gnomAD
CA2315276 rs757052939	1612	L>P		No	ClinGen ExAC gnomAD
rs779728592 CA2315280	1617	T>A		No	ClinGen ExAC
CA72868648 rs904504939	1618	N>S		No	ClinGen TOPMed gnomAD
rs1276823094 CA352101811	1619	Q>E		No	ClinGen Ensembl
rs746456569 CA2315281	1619	Q>H		No	ClinGen ExAC gnomAD
CA72868670 rs1031548403	1620	T>I		No	ClinGen Ensembl
CA2315283 rs370526582	1621	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2315282 rs370526582	1621	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA352102220 rs1575248932	1624	V>G		No	ClinGen Ensembl
CA2315309 rs771162817	1624	V>L		No	ClinGen ExAC gnomAD
rs774606683 CA352102231	1625	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1292028317 CA352102242	1625	P>R		No	ClinGen TOPMed gnomAD
CA2315310 rs774606683	1625	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1627	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368528968 CA2315313	1627	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2315312 rs377372584	1627	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2315314 rs372832266	1628	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2315315 rs199744070	1629	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2315317 rs201922065	1632	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352102376 rs1415225296	1633	P>T		No	ClinGen gnomAD
CA352102459 rs1559470449	1636	Q>*		No	ClinGen Ensembl
rs751319954 CA2315319	1636	Q>H		No	ClinGen ExAC gnomAD
CA72869350 rs1038191056	1637	L>V		No	ClinGen Ensembl
rs1298017706 CA352102524	1638	S>F		No	ClinGen TOPMed
rs368399069 CA2315320	1639	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2315322 rs538678462	1640	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352102585 rs538678462	1640	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1641	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174265037 CA352102644	1642	V>L		No	ClinGen TOPMed
TCGA novel	1646	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1285709748 CA352102840	1646	T>I		No	ClinGen gnomAD
CA2315323 rs756609310	1647	C>G		No	ClinGen ExAC gnomAD
CA352102862 rs1227703819	1647	C>Y		No	ClinGen TOPMed gnomAD
CA352102927 rs1310431324	1649	V>L		No	ClinGen gnomAD
rs749735443 CA2315325	1650	S>R		No	ClinGen ExAC gnomAD
CA352103023 rs200713816	1651	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200713816 CA2315326	1651	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2315328 rs774696235	1651	Q>L		No	ClinGen ExAC gnomAD
CA2315327 rs774696235	1651	Q>P		No	ClinGen ExAC gnomAD
rs772223976 CA2315329	1652	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1200048639 CA352103060	1652	Q>R		No	ClinGen TOPMed
CA2315330 rs775441826	1653	R>*		No	ClinGen ExAC TOPMed gnomAD
rs573428697 CA72869388	1653	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2315331 rs760771851	1654	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2315332 rs760771851	1654	V>G		No	ClinGen ExAC TOPMed gnomAD
CA352103089 rs1180641516	1654	V>I		No	ClinGen gnomAD
rs374917641 CA2315333	1655	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs766331966 CA2315335	1655	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs374917641 CA2315334	1655	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1559470567 CA352103128	1656	E>K		No	ClinGen Ensembl
CA352103130 rs1559470567	1656	E>Q		No	ClinGen Ensembl
rs372712727 CA2315337	1659	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352103300 rs1359550895	1660	M>T		No	ClinGen gnomAD
rs1575249257 CA352103339	1661	N>T		No	ClinGen Ensembl
rs1263284295 CA352103399	1663	S>N		No	ClinGen TOPMed
rs1278145937 CA352103432	1664	G>E		No	ClinGen TOPMed
rs752168761 CA352103425 CA2315340	1664	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2315339 rs752168761	1664	G>W		No	ClinGen ExAC TOPMed gnomAD
CA352103456 rs1219390907	1665	C>Y		No	ClinGen gnomAD
rs201864897 CA2315341	1666	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs754410789 CA2315343	1666	R>P		No	ClinGen ExAC TOPMed gnomAD
rs754410789 CA2315342	1666	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779262468 CA2315344	1668	Y>C		No	ClinGen ExAC gnomAD
rs1559470650 CA352103602	1669	W>*		No	ClinGen Ensembl
TCGA novel	1670	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447653112 CA352103644	1670	T>I		No	ClinGen TOPMed
rs1465588039 CA352103674	1671	M>I		No	ClinGen TOPMed gnomAD
CA2315346 CA2315345 rs760617572	1671	M>L		No	ClinGen ExAC TOPMed gnomAD
CA2315347 rs780276293	1671	M>T		No	ClinGen ExAC gnomAD
CA352103758 rs1575249434	1673	M>I		No	ClinGen Ensembl
rs776557146 CA352103721	1673	M>R		No	ClinGen ExAC TOPMed gnomAD
rs776557146 CA2315350	1673	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1382694235 CA352105499	1674	G>A		No	ClinGen TOPMed gnomAD
rs1575249447 CA352103770	1674	G>C		No	ClinGen Ensembl
rs1382694235 CA352105495	1674	G>D		No	ClinGen TOPMed gnomAD
CA2315370 rs771015194	1675	Q>R		No	ClinGen ExAC gnomAD
rs974131692 CA352105608	1676	Q>*		No	ClinGen gnomAD
rs974131692 CA72869568	1676	Q>K		No	ClinGen gnomAD
CA2315371 rs774477333	1678	P>L		No	ClinGen ExAC gnomAD
rs1330787855 CA352105671	1678	P>T		No	ClinGen gnomAD
CA2315374 rs771971249	1682	A>T		No	ClinGen ExAC gnomAD
rs377538718 CA72869587	1683	V>A		No	ClinGen ESP TOPMed gnomAD
rs775136899 CA2315375	1684	A>T		No	ClinGen ExAC gnomAD
CA2315376 rs760388697	1687	V>F		No	ClinGen ExAC TOPMed gnomAD
rs760388697 CA352105984	1687	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2315378 rs763587926	1689	P>R		No	ClinGen ExAC gnomAD
rs370763100 CA2315379	1690	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1690	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs987060323 CA72869597	1691	S>R		No	ClinGen TOPMed gnomAD
CA2315382 rs750972248	1694	L>P		No	ClinGen ExAC gnomAD
rs1330391645 CA352106130	1695	E>K		No	ClinGen gnomAD
rs766777929 CA2315384	1697	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2315385 rs180864786	1697	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA72869621 rs373584843	1698	S>F		No	ClinGen ESP TOPMed gnomAD
rs1195596893 CA352106195	1698	S>P		No	ClinGen TOPMed
CA2315387 rs199840504	1699	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs200160961 CA2315388	1700	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1314160231 CA352106254	1701	A>T		No	ClinGen TOPMed
CA352106265 rs1559471205	1702	P>H		No	ClinGen Ensembl
rs371022710 CA2315389	1702	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA352106263 rs371022710	1702	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs374490937 CA2315390	1703	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs983346608 CA72869629	1704	T>A		No	ClinGen TOPMed gnomAD
rs983346608 CA352106279	1704	T>P		No	ClinGen TOPMed gnomAD
CA2315391 rs745876712	1706	I>N		No	ClinGen ExAC TOPMed gnomAD
rs574902581 CA72869632	1707	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574902581 CA2315393	1707	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs892251260 CA72869637	1710	V>I		No	ClinGen TOPMed
CA2315396 rs776318880	1714	A>G		No	ClinGen ExAC
rs768322861 CA2315395	1714	A>T		No	ClinGen ExAC gnomAD
rs1013320310 CA352106479	1715	R>K		No	ClinGen TOPMed
CA72869649 rs1013320310	1715	R>M		No	ClinGen TOPMed
rs769367612 CA72869673	1715	R>S		No	ClinGen ExAC gnomAD
CA352106568 rs1313578232	1716	S>G		No	ClinGen gnomAD
CA2315418 rs151322214	1717	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762316705 CA2315419	1718	E>K		No	ClinGen ExAC gnomAD
CA2315421 rs770452395	1720	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA352106685 rs1405846205	1720	Y>C		No	ClinGen TOPMed
rs1307498940 CA352106671	1720	Y>H		No	ClinGen gnomAD
rs760081904 CA2315422	1721	E>G		No	ClinGen ExAC gnomAD
rs78189323 CA72869682	1721	E>K		No	ClinGen 1000Genomes TOPMed
CA352106709 rs78189323	1721	E>Q		No	ClinGen 1000Genomes TOPMed
CA72869688 rs767592944	1722	S>T		No	ClinGen Ensembl
rs201017952 CA2315423	1723	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA72869703 rs891343778	1724	M>T		No	ClinGen TOPMed
rs1269800819 CA352106919	1728	G>V		No	ClinGen gnomAD
CA2315427 rs561071711	1731	G>S	Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1393682449 CA352107018	1732	E>D		No	ClinGen gnomAD
rs139720262 CA2315429	1733	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139720262 CA2315428	1733	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352107063 rs1159793509	1734	S>F		No	ClinGen TOPMed gnomAD
CA352107091 rs1452502612	1735	C>S		No	ClinGen TOPMed gnomAD
CA2315432 rs754899834	1736	T>I		No	ClinGen ExAC gnomAD
rs754899834 CA72869729	1736	T>N		No	ClinGen ExAC gnomAD
rs1559471590 CA352107104	1736	T>P		No	ClinGen Ensembl
COSM3380554 rs887127240 COSM3380553 CA72869749	1738	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
rs201487599 CA2315434	1738	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202119703 CA2315437	1740	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377210107 CA2315436	1740	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs532236990 CA2315438	1741	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2315439 rs773897658	1742	Q>K		No	ClinGen ExAC gnomAD
CA2315440 rs760135375	1743	G>D		No	ClinGen ExAC gnomAD
rs764500213 CA2315444	1745	Y>C		No	ClinGen ExAC gnomAD
CA2315443 rs374134641	1745	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2315446 rs762092723	1746	D>H		No	ClinGen ExAC gnomAD
CA352107389 rs762092723	1746	D>N		No	ClinGen ExAC gnomAD
CA2315447 rs765293816	1747	E>G		No	ClinGen ExAC gnomAD
rs750447147 CA2315448	1748	R>K		No	ClinGen ExAC TOPMed gnomAD
CA906821392 rs1267895632	1749	Y>*		No	ClinGen TOPMed
CA72869797 rs377099052	1749	Y>D		No	ClinGen ESP TOPMed gnomAD
CA72869796 rs377099052	1749	Y>H		No	ClinGen ESP TOPMed gnomAD
CA2315450 rs754937536	1750	M>I		No	ClinGen ExAC gnomAD
CA2315451 rs200562564	1752	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200562564 CA2315452	1752	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352107518 rs1285820994	1753	H>L		No	ClinGen TOPMed
CA2315455 rs373418934	1756	P>R		No	ClinGen ESP ExAC gnomAD

3 associated diseases with Q9Y238

[MIM: 211980]: Lung cancer (LNCR)

A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes

[MIM: 133239]: Esophageal cancer (ESCR)

A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269|PubMed:10213508}. Note=The gene represented in this entry may be involved in disease pathogenesis. DLEC1 silencing due to promoter methylation and aberrant transcription may be implicated in the development of esophageal cancer.

Without disease ID

A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes
A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269|PubMed:10213508}. Note=The gene represented in this entry may be involved in disease pathogenesis. DLEC1 silencing due to promoter methylation and aberrant transcription may be implicated in the development of esophageal cancer.

No regional properties for Q9Y238

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9Y238

Functions

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

3 GO annotations of cellular component

Name	Definition
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

3 GO annotations of molecular function

Name	Definition
alpha-tubulin binding	Binding to the microtubule constituent protein alpha-tubulin.
beta-tubulin binding	Binding to the microtubule constituent protein beta-tubulin.
tubulin binding	Binding to monomeric or multimeric forms of tubulin, including microtubules.

4 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
defense response to tumor cell	Reactions triggered in response to the presence of a tumor cell that act to protect the cell or organism.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BLA1	Dlec1	Deleted in lung and esophageal cancer protein 1 homolog	Mus musculus (Mouse)	PR
Q68FQ8	Dlec1	Deleted in lung and esophageal cancer protein 1 homolog	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
METRSSKTRR	SLASRTNECQ	GTMWAPTSPP	AGSSSPSQPT	WKSSLYSSLA	YSEAFHYSFA
70	80	90	100	110	120
ARPRRLTQLA	LAQRPEPQLL	RLRPSSLRTQ	DISHLLTGVF	RNLYSAEVIG	DEVSASLIKA
130	140	150	160	170	180
RGSENERHEE	FVDQLQQIRE	LYKQRLDEFE	MLERHITQAQ	ARAIAENERV	MSQAGVQDLE
190	200	210	220	230	240
SLVRLPPVKS	VSRWCIDSEL	LRKHHLISPE	DYYTDTVPFH	SAPKGISLPG	CSKLTFSCEK
250	260	270	280	290	300
RSVQKKELNK	KLEDSCRKKL	AEFEDELDHT	VDSLTWNLTP	KAKERTREPL	KKASQPRNKN
310	320	330	340	350	360
WMNHLRVPQR	ELDRLLLARM	ESRNHFLKNP	RFFPPNTRYG	GKSLVFPPKK	PAPIGEFQST
370	380	390	400	410	420
EPEQSCADTP	VFLAKPPIGF	FTDYEIGPVY	EMVIALQNTT	TTSRYLRVLP	PSTPYFALGL
430	440	450	460	470	480
GMFPGKGGMV	APGMTCQYIV	QFFPDCLGDF	DDFILVETQS	AHTLLIPLQA	RRPPPVLTLS
490	500	510	520	530	540
PVLDCGYCLI	GGVKMTRFIC	KNVGFSVGRF	CIMPKTSWPP	LSFKAIATVG	FVEQPPFGIL
550	560	570	580	590	600
PSVFELAPGH	AILVEVLFSP	KSLGKAEQTF	IIMCDNCQIK	ELVTIGIGQL	IALDLIYISG
610	620	630	640	650	660
EKSQPDPGEL	TDLTAQHFIR	FEPENLRSTA	RKQLIIRNAT	HVELAFYWQI	MKPNLQPLMP
670	680	690	700	710	720
GETFSMDSIK	CYPDKETAFS	IMPRKGVLSP	HTDHEFILSF	SPHELRDFHS	VLQMVLEEVP
730	740	750	760	770	780
EPVSSEAESL	GHSSYSVDDV	IVLEIEVKGS	VEPFQVLLEP	YALIIPGENY	IGINVKKAFK
790	800	810	820	830	840
MWNNSKSPIR	YLWGKISDCH	IIEVEPGTGV	IEPSEVGDFE	LNFTGGVPGP	TSQDLLCEIE
850	860	870	880	890	900
DSPSPVVLHI	EAVFKGPALI	INVSALQFGL	LRLGQKATNS	IQIRNVSQLP	ATWRMKESPV
910	920	930	940	950	960
SLQERPEDVS	PFDIEPSSGQ	LHSLGECRVD	ITLEALHCQH	LETVLELEVE	NGAWSYLPVY
970	980	990	1000	1010	1020
AEVQKPHVYL	QSSQVEVRNL	YLGVPTKTTI	TLINGTLLPT	QFHWGKLLGH	QAEFCMVTVS
1030	1040	1050	1060	1070	1080
PKHGLLGPSE	ECQLKLELTA	HTQEELTHLA	LPCHVSGMKK	PLVLGISGKP	QGLQVAITIS
1090	1100	1110	1120	1130	1140
KESSDCSTEQ	WPGHPKELRL	DFGSAVPLRT	RVTRQLILTN	RSPIRTRFSL	KFEYFGSPQN
1150	1160	1170	1180	1190	1200
SLSKKTSLPN	MPPALLKTVR	MQEHLAKREQ	LDFMESMLSH	GKGAAFFPHF	SQGMLGPYQQ
1210	1220	1230	1240	1250	1260
LCIDITGCAN	MWGEYWDNLI	CTVGDLLPEV	IPVHMAAVGC	PISSLRTTSY	TIDQAQKEPA
1270	1280	1290	1300	1310	1320
MRFGTQVSGG	DTVTRTLRLN	NSSPCDIRLD	WETYVPEDKE	DRLVELLVFY	GPPFPLRDQA
1330	1340	1350	1360	1370	1380
GNELVCPDTP	EGGCLLWSPG	PSSSSEFSHE	TDSSVEGSSS	ASNRVAQKLI	SVILQAHEGV
1390	1400	1410	1420	1430	1440
PSGHLYCISP	KQVVVPAGGS	STIYISFTPM	VLSPEILHKV	ECTGYALGFM	SLDSKVEREI
1450	1460	1470	1480	1490	1500
PGKRHRLQDF	AVGPLKLDLH	SYVRPAQLSV	ELDYGGSMEF	QCQASDLIPE	QPCSGVLSEL
1510	1520	1530	1540	1550	1560
VTTHHLKLTN	TTEIPHYFRL	MVSRPFSVSQ	DGASQDHRAP	GPGQKQECEE	ETASADKQLV
1570	1580	1590	1600	1610	1620
LQAQENMLVN	VSFSLSLELL	SYQKLPADQT	LPGVDIQQSA	SGEREMVFTQ	NLLLEYTNQT
1630	1640	1650	1660	1670	1680
TQVVPLRAVV	AVPELQLSTS	WVDFGTCFVS	QQRVREVYLM	NLSGCRSYWT	MLMGQQEPAK
1690	1700	1710	1720	1730	1740
AAVAFRVSPN	SGLLEARSAN	APPTSIALQV	FFTARSSELY	ESTMVVEGVL	GEKSCTLRLR
1750
GQGSYDERYM	LPHQP