AiPD: Autoinhibited Protein Database

P33527

Gene name	ABCC1
Protein name	Multidrug resistance-associated protein 1
Names	ATP-binding cassette sub-family C member 1, Glutathione-S-conjugate-translocating ATPase ABCC1, Leukotriene C(4) transporter, LTC4 transporter
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4363
EC number	7.6.2.2: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

238-331 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

238-331 (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

3 structures for P33527

Entry ID	Method	Resolution	Chain	Position	Source
2CBZ	X-ray	150 A	A	642-871	PDB
4C3Z	X-ray	210 A	A	628-881	PDB
AF-P33527-F1	Predicted				AlphaFoldDB

1230 variants for P33527

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_083988	231	G>D	DFNA77; unknown pathological significance [UniProt]	Yes	UniProt
VAR_083990	296	E>V	DFNA77; unknown pathological significance [UniProt]	Yes	UniProt
CA7924021 rs199797323 RCV001194461 VAR_083991	590	N>S	Hearing loss, autosomal dominant 77 DFNA77; changes protein subcellular localization expressed in both membrane and cytoplasm; produces unstable mRNA [ClinVar, UniProt]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD UniProt
RCV000123404 VAR_013321 rs4148356 CA269941	723	R>Q	Familial cancer of breast [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA395209634 rs1389170089	4	R>W		No	gnomAD ClinGen
CA395209661 rs1306445236	6	F>V		No	TOPMed ClinGen
CA395209713 rs1220102099	8	S>G		No	TOPMed ClinGen
CA395209759 rs1228887228	10	D>Y		No	ClinGen gnomAD
rs953725451 CA279013155	11	G>V		No	ClinGen TOPMed
CA395209822 rs1369432476	13	D>H		No	TOPMed ClinGen
CA279013156 rs909494728	15	L>F		No	TOPMed ClinGen
rs1597044398 CA395209884	16	W>C		No	Ensembl ClinGen
CA7923391 rs769528847	17	D>V		No	ClinGen ExAC gnomAD
CA7923390 rs761719926	17	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7923392 rs773051838	18	W>C		No	ExAC TOPMed gnomAD ClinGen
CA7923393 rs762542019	21	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760030871 CA7923396	23	N>I		No	ClinGen ExAC gnomAD
CA394877665 rs1297776332	23	N>K		No	gnomAD ClinGen
rs760030871 CA394877652	23	N>T		No	ExAC gnomAD ClinGen
CA394877728 rs1314663568	26	N>K		No	gnomAD ClinGen
CA394877710 rs1362428434	26	N>Y		No	TOPMed ClinGen
rs909053714 CA278639856	27	P>L		No	TOPMed gnomAD ClinGen
CA278639862 rs1036468233	28	D>N		No	TOPMed gnomAD ClinGen
rs756513465 CA7923399	31	K>N		No	ClinGen ExAC gnomAD
rs754116395 CA7923401	33	F>L		No	ExAC gnomAD ClinGen
rs757323996 CA7923402	35	N>K		No	ExAC TOPMed gnomAD ClinGen
rs1182782351 CA394877952	36	T>M		No	ClinGen TOPMed gnomAD
rs1427138675 CA394877963	37	V>I		No	ClinGen gnomAD
rs538744747 CA394878008	39	V>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs538744747 CA7923405	39	V>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs769264477 CA278639901	41	V>L		No	ClinGen gnomAD
rs41395947 VAR_013317 CA7923406	43	C>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs1377886355 CA394878111	44	F>L		No	TOPMed ClinGen
TCGA novel	45	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597107671 CA394878186	47	W>*		No	Ensembl ClinGen
CA7923407 rs747917739 COSM380118	47	W>C	lung [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA7923408 rs769771635	48	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1213779535 CA394878221	49	C>R		No	ClinGen gnomAD
rs772997137 CA7923410	51	P>L		No	ClinGen ExAC gnomAD
rs762631300 CA7923411	53	Y>C		No	ExAC TOPMed gnomAD ClinGen
rs1319994715 CA394878311	53	Y>D		No	gnomAD ClinGen
rs1261393739 CA394878355	55	L>R		No	ClinGen gnomAD
CA278639931 rs565023011	56	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	56	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7923412 rs565023011	56	Y>S		No	ExAC TOPMed gnomAD ClinGen
rs199949505 CA7923413	57	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA394878387 rs1359256046	58	S>Y		No	ClinGen TOPMed
COSM967500 rs768037858 CA7923415	59	R>*	endometrium Variant assessed as Somatic; 0.0001392 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs370745195 CA278639965	59	R>Q		No	ClinGen TOPMed gnomAD
CA278639968 rs903368377	60	H>P		No	TOPMed gnomAD ClinGen
rs903368377 CA394878406	60	H>R		No	TOPMed gnomAD ClinGen
CA394878402 rs1193464615	60	H>Y		No	TOPMed gnomAD ClinGen
COSM3402105 COSM3402106 rs1173609341 CA394878430	62	R>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7923417 rs187769078	62	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA278639995 rs945037085	63	G>D		No	Ensembl ClinGen
rs754206227 CA7923419	64	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1189103815 CA394878461	64	Y>H		No	TOPMed gnomAD ClinGen
rs757442182 CA7923421	65	I>F		No	ExAC gnomAD ClinGen
rs757442182 CA7923420	65	I>V		No	ClinGen ExAC gnomAD
rs201384888 CA7923422	68	T>A		No	ExAC TOPMed gnomAD ClinGen
CA7923423 rs758444339	68	T>I		No	ClinGen ExAC gnomAD
rs1402972459 CA394878524	69	P>L		No	ClinGen gnomAD
CA394878519 rs1448890563	69	P>S		No	gnomAD ClinGen
rs748165606 CA7923425	70	L>I		No	ClinGen ExAC gnomAD
TCGA novel	70	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_013318 CA7923426 rs41494447	73	T>I		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1407058187 CA394878812	76	A>P		No	ClinGen gnomAD
CA394878810 rs1407058187	76	A>T		No	ClinGen gnomAD
TCGA novel	78	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	78	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394878867 rs1206837078	80	L>F		No	gnomAD ClinGen
CA394878860 rs1326800154	80	L>V		No	ClinGen gnomAD
CA394878892 rs1446142132 CA394878894	82	W>C		No	TOPMed gnomAD ClinGen
rs766733775 CA7923463	84	V>F		No	ExAC TOPMed gnomAD ClinGen
rs766733775 CA7923462	84	V>I		No	ClinGen ExAC TOPMed gnomAD
rs766733775 CA278641489	84	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	85	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7923465 rs764102777	85	C>S		No	ExAC gnomAD ClinGen
rs753778879 CA7923466	89	L>F		No	ClinGen ExAC gnomAD
CA7923468 rs757068084	91	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA7923467 rs757068084	91	Y>F		No	ExAC gnomAD ClinGen
rs757068084 CA394879000	91	Y>S		No	ExAC gnomAD ClinGen
CA7923470 rs8187844	92	S>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7923469 rs8187844	92	S>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7923471 rs544482107	93	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1033671081 CA278641515	94	W>G		No	Ensembl ClinGen
rs1412137426 CA394879098	97	S>T		No	gnomAD ClinGen
rs975801270 CA394879113	98	R>P		No	TOPMed gnomAD ClinGen
rs975801270 CA278641522	98	R>Q		No	ClinGen TOPMed gnomAD
CA7923472 rs563093652	98	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1208253577 CA394879119	99	G>C		No	ClinGen TOPMed
rs1368775840 CA394879140	100	I>T		No	ClinGen gnomAD
rs1186548215 CA394879134	100	I>V		No	TOPMed gnomAD ClinGen
rs768200286 CA7923473	101	F>L		No	ExAC TOPMed gnomAD ClinGen
rs377283238 CA7923475	105	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7923476 rs770350478	106	F>I		No	ClinGen ExAC gnomAD
CA278641545 rs770350478	106	F>V		No	ClinGen ExAC gnomAD
rs773404444 CA7923477	106	F>Y		No	ExAC gnomAD ClinGen
rs763410634 CA7923478	109	S>T		No	ExAC gnomAD ClinGen
CA7923481 rs759677129	111	T>S		No	ExAC TOPMed gnomAD ClinGen
COSM1189193 CA394879295 rs1434304491	112	L>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA394879315 rs1317900669	114	G>S		No	gnomAD ClinGen
CA394879350 rs955408927	116	T>I		No	ClinGen gnomAD
rs955408927 CA278641579	116	T>N		No	ClinGen gnomAD
CA394879370 rs1320828777	117	M>I		No	ClinGen gnomAD
VAR_013319	117	M>T		No	UniProt
rs761596960 CA7923484	117	M>V		No	ExAC gnomAD ClinGen
rs1443521240 CA394880686	119	L>P		No	TOPMed ClinGen
rs894682650 CA278645718	121	T>A		No	TOPMed gnomAD ClinGen
rs765054338 CA7923507	125	Q>H		No	ExAC TOPMed gnomAD ClinGen
rs557446125 CA278645748	126	L>P		No	ClinGen 1000Genomes
rs1300664574 CA394880737	127	E>G		No	ClinGen TOPMed gnomAD
rs200168956 CA278645760	129	R>K		No	ClinGen Ensembl
rs1467815868 CA394880770	130	K>M		No	ClinGen gnomAD
TCGA novel	131	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394880776 rs1157102286	131	G>R		No	gnomAD ClinGen
CA7923509 rs762721818	132	V>F		No	ExAC gnomAD ClinGen
CA394880799 rs369321712	133	Q>E		No	ClinGen ESP TOPMed gnomAD
CA278645779 rs369321712	133	Q>K		No	ESP TOPMed gnomAD ClinGen
CA7923510 rs766226776	137	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA394880860 rs1300527788	138	M>V		No	gnomAD ClinGen
CA7923511 rs202231250	139	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1194229178 CA394880885	140	T>P		No	ClinGen TOPMed
CA394880892 rs1455420726	140	T>S		No	TOPMed ClinGen
CA7923513 rs767231625	144	V>I		No	ClinGen ExAC gnomAD
CA394880946 rs767231625	144	V>L		No	ClinGen ExAC gnomAD
CA7923516 rs755702353	147	V>L		No	ClinGen ExAC TOPMed gnomAD
rs755702353 CA7923515	147	V>M		No	ClinGen ExAC TOPMed gnomAD
rs749880189 CA7923517	148	C>W		No	ExAC gnomAD ClinGen
CA394881056 rs1458390553	150	L>V		No	ClinGen TOPMed
CA7923518 rs757846244	151	A>V		No	ClinGen ExAC TOPMed gnomAD
CA394881113 rs1344444021	152	I>M		No	TOPMed ClinGen
CA394881115 rs1275953232	153	L>V		No	ClinGen TOPMed
rs779359541 CA7923519	154	R>G		No	ClinGen ExAC gnomAD
CA394881184 rs1375070502	156	K>R		No	ClinGen TOPMed
CA394881289 rs1308993618	159	T>I		No	TOPMed ClinGen
rs1445528718 CA394881295	160	A>T		No	TOPMed ClinGen
COSM967504 rs746254153 CA7923521	160	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs201076225 CA7923523	162	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	162	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200009862 CA278645861	163	E>Q		No	Ensembl ClinGen
rs1396403475 CA394881975	164	D>A		No	ClinGen gnomAD
CA7923545 rs748260234	166	Q>L		No	ExAC gnomAD ClinGen
CA7923544 rs748260234	166	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	167	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774322735 CA7923546	169	L>P		No	ClinGen ExAC gnomAD
CA278647513 rs767417639	170	F>L		No	ExAC TOPMed gnomAD ClinGen
rs775155522 CA7923549	171	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7923550 rs559703047	171	R>H	Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7923551 rs763673832	172	D>G		No	ExAC gnomAD ClinGen
rs990887647 CA278647525	174	T>A		No	TOPMed ClinGen
CA7923552 rs753355266	174	T>S		No	ClinGen ExAC gnomAD
CA394882042 rs1258832316	175	F>S		No	ClinGen gnomAD
CA394882040 rs1258832316	175	F>Y		No	gnomAD ClinGen
CA394882049 rs1193601449	176	Y>C		No	gnomAD ClinGen
rs201215222 CA7923555	177	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs758684872 CA7923556	178	Y>C		No	ExAC gnomAD ClinGen
rs1358279091 CA394882067	179	F>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	180	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751882235 CA7923558	181	L>V		No	ClinGen ExAC gnomAD
CA394882092 rs1399274729	183	L>F		No	TOPMed gnomAD ClinGen
TCGA novel	184	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394882097 rs1278805692	184	I>V		No	ClinGen gnomAD
CA7923561 rs748205302	186	L>H		No	ExAC gnomAD ClinGen
rs748205302 CA7923562	186	L>P		No	ClinGen ExAC gnomAD
CA278647560 rs202001877	187	V>I		No	TOPMed gnomAD ClinGen
rs1368332450 CA394882131	189	S>C		No	ClinGen TOPMed
rs1487530329 CA394882140	190	C>W		No	gnomAD ClinGen
CA394882136 rs1282848316	190	C>Y		No	gnomAD ClinGen
rs376236417 CA7923564	191	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771919617 CA7923565	194	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA394882164 rs1476099956	194	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1433460342 CA394882177	196	P>L		No	ClinGen TOPMed gnomAD
rs1433460342 CA394882176	196	P>R		No	TOPMed gnomAD ClinGen
CA7923568 rs370618009	196	P>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs483352860 RCV000106398 CA230659	199	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA394882205 rs1418875640	201	T>A		No	ClinGen gnomAD
rs773961850 CA278647615	201	T>I		No	Ensembl ClinGen
CA394882225 rs1307256288	202	I>M		No	gnomAD ClinGen
rs1432935738 CA394882251	204	D>G		No	TOPMed gnomAD ClinGen
rs749904367 CA7923571	204	D>N		No	ClinGen ExAC gnomAD
rs1273202195 CA394882257	205	P>S		No	ClinGen gnomAD
rs1398352031 CA394866969	206	N>I		No	gnomAD ClinGen
CA394866978 rs1430043914	207	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA394866977 rs1430043914	207	P>R		No	TOPMed gnomAD ClinGen
CA394866975 rs1446260379	207	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA394866983 rs1359942457	208	C>S		No	TOPMed ClinGen
rs1332336207 CA394867008	212	S>G		No	ClinGen gnomAD
rs760447045 CA278601453	213	A>P		No	ClinGen ExAC TOPMed gnomAD
rs760447045 CA7923613	213	A>S		No	ExAC TOPMed gnomAD ClinGen
rs760447045 CA394867015	213	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7923614 rs747977371	213	A>V		No	ClinGen ExAC gnomAD
CA7923615 rs375353770	215	F>S		No	ESP ExAC gnomAD ClinGen
CA7923618 rs770415430	216	L>P		No	ClinGen ExAC gnomAD
CA7923617 rs202023534	216	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA394867039 rs1274693345	217	S>L		No	ClinGen gnomAD
rs1186656678 CA394867058	220	T>S		No	TOPMed gnomAD ClinGen
CA278601477 rs1041487976	222	W>S		No	TOPMed gnomAD ClinGen
rs756842840 CA7923621	224	I>M		No	ClinGen ExAC gnomAD
rs1239601029 CA394867097	226	G>R		No	TOPMed ClinGen
CA278604042 rs1013445514	227	L>F		No	gnomAD ClinGen
rs1292562711 CA394868320	227	L>M		No	ClinGen TOPMed
CA7923648 rs376223290	228	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs765516808 CA394868332	229	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7923649 rs765516808	229	V>L		No	ExAC TOPMed gnomAD ClinGen
rs8187848 CA7923653	230	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7923652 rs8187848	230	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7923651 rs200485505	230	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs201704029 CA7923655	231	G>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs777377123 CA7923656	232	Y>*		No	ClinGen ExAC gnomAD
rs1597150906 CA394868347	232	Y>S		No	ClinGen Ensembl
CA7923657 rs753693807	233	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA7923658 rs756823111	233	R>H		No	ClinGen ExAC gnomAD
CA394868357 rs1455851312	234	Q>*		No	ClinGen gnomAD
CA7923659 rs778579319	234	Q>R		No	ExAC gnomAD ClinGen
CA394868364 rs1454715813	235	P>H		No	gnomAD ClinGen
CA394868365 rs1454715813	235	P>R		No	gnomAD ClinGen
rs745356979 CA7923660	235	P>S		No	ClinGen ExAC TOPMed gnomAD
rs577514484 CA7923664	237	E>K		No	1000Genomes ExAC gnomAD ClinGen
rs906081060 CA278604127	238	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs906081060 CA394868383	238	G>V		No	TOPMed gnomAD ClinGen
rs1567334993 CA394868389	239	S>N		No	ClinGen Ensembl
CA394868396 rs1451119275	240	D>G		No	TOPMed ClinGen
CA394868402 rs1193245054	241	L>F		No	ClinGen TOPMed
CA7923665 rs190420353 VAR_083989	242	W>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen UniProt
TCGA novel	247	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1241011030 CA394868485	247	E>K		No	gnomAD ClinGen
rs1263622382 CA394868504	248	D>N		No	ClinGen gnomAD
rs762268225 CA7923666	249	T>M		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	249	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567335064 CA394868548	250	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA394868565 rs1597151058	251	E>D		No	Ensembl ClinGen
CA7923668 rs773628789	253	V>I		No	ClinGen ExAC gnomAD
CA278604146 rs368336559	254	V>M		No	ClinGen ESP gnomAD
CA7923673 rs764127899	256	V>A		No	ExAC gnomAD ClinGen
CA7923671 rs751704324	256	V>I		No	ClinGen ExAC gnomAD
rs751704324 CA7923672	256	V>L		No	ClinGen ExAC gnomAD
rs1165069763 CA394868649	257	L>W		No	ClinGen gnomAD
CA394868662 rs1396197156	258	V>I		No	ClinGen gnomAD
CA7923675 rs757121235	259	K>E		No	ExAC gnomAD ClinGen
CA278604217 rs148057395	259	K>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA278604218 rs1010547369	260	N>D		No	TOPMed gnomAD ClinGen
rs1218294400 CA394868743	261	W>*		No	TOPMed ClinGen
CA278604221 rs570789002	264	E>A		No	ClinGen Ensembl
CA394868814 rs1310476127	265	C>G		No	gnomAD ClinGen
CA394868815 rs1310476127	265	C>R		No	gnomAD ClinGen
CA7923678 rs758046256	266	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA7923679 rs182059861	267	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394868889 rs1196911163	269	R>K		No	ClinGen gnomAD
CA7923704 rs748621744	271	Q>H		No	ClinGen ExAC gnomAD
CA7923706 rs376004761	272	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7923705 rs200194736	272	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7923709 rs774686961	275	V>L		No	ExAC gnomAD ClinGen
TCGA novel	278	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7923712 rs775434031 COSM3387237 COSM3387238	279	S>F	Variant assessed as Somatic; 0.0 impact. pancreas urinary_tract [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA7923714 rs765180604	280	K>N		No	ExAC gnomAD ClinGen
CA7923713 rs761749719	280	K>R		No	ExAC TOPMed gnomAD ClinGen
CA7923715 rs200293793	281	D>N		No	1000Genomes ExAC gnomAD ClinGen
rs199675371 CA7923716	285	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs199675371 CA7923717	285	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA278609871 rs192398298	285	P>T		No	ClinGen 1000Genomes gnomAD
CA7923718 rs373849176	287	E>D		No	ESP ExAC gnomAD ClinGen
CA7923720 rs377634982	290	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA
rs778466369 CA7923722	292	D>G		No	ExAC TOPMed gnomAD ClinGen
rs756652894 CA7923721	292	D>H		No	ClinGen ExAC gnomAD
CA7923723 rs200771920	293	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199742367 CA7923725	294	N>H		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	298	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278609908 rs1056832066	300	L>F		No	ClinGen TOPMed
CA394871861 rs1334478269	301	I>L		No	ClinGen TOPMed
rs546292624 CA7923727	302	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs76776400 CA278609921	303	K>E		No	ClinGen Ensembl
CA7923729 rs747121430	303	K>R		No	ExAC TOPMed gnomAD ClinGen
rs769685769 CA278609927	304	S>A		No	ExAC TOPMed gnomAD ClinGen
CA7923730 rs769685769	304	S>T		No	ClinGen ExAC TOPMed gnomAD
rs773182416 CA7923731	304	S>Y		No	ClinGen ExAC gnomAD
CA278609954 rs1022789997	306	Q>*		No	ClinGen TOPMed
CA394872021 rs1177695277	308	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	310	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367746886 CA7923732	310	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7923734 rs368427800	310	N>K		No	ClinGen ExAC gnomAD
CA7923735 rs759180642	311	P>R		No	ClinGen ExAC TOPMed
rs767107797 CA7923736	312	S>F		No	ClinGen ExAC gnomAD
CA394872133 rs1462125513	317	L>S		No	ClinGen gnomAD
CA394872138 rs1205179526	318	Y>H		No	ClinGen TOPMed
rs1444719950 CA394872164	321	F>C		No	ClinGen TOPMed
CA7923738 rs760313323	323	P>R		No	ClinGen ExAC gnomAD
rs1352813585 CA394872183	324	Y>*		No	ClinGen TOPMed
rs371571198 CA7923739	324	Y>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs1567343393 CA394872203	327	M>T		No	ClinGen Ensembl
CA7923740 rs200106515	329	F>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1271937100 CA394872221	329	F>L		No	ClinGen gnomAD
rs1376218656 CA394872218	329	F>V		No	ClinGen gnomAD
rs1334955312 CA394872238	331	F>L		No	gnomAD ClinGen
CA7923741 rs757840049	334	I>T		No	ExAC gnomAD ClinGen
CA7923743 rs750772759	338	M>T		No	ExAC gnomAD ClinGen
TCGA novel	338	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187173305 CA394872293	339	M>I		No	ClinGen gnomAD
CA7923744 rs758604791	339	M>V		No	ClinGen ExAC gnomAD
CA7923746 rs372116954	341	S>F		No	ESP ExAC TOPMed gnomAD ClinGen
rs780178288 CA278610041	341	S>P		No	ExAC TOPMed gnomAD ClinGen
rs780178288 CA7923745	341	S>T		No	ExAC TOPMed gnomAD ClinGen
CA7923748 rs781254269	342	G>R		No	ClinGen ExAC gnomAD
CA7923749 rs749166736	343	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394872315 rs749166736	343	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs749166736 CA394872316	343	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1183190479 CA394872324	344	Q>H		No	ClinGen TOPMed
rs1356665999 CA394872320	344	Q>P		No	TOPMed gnomAD ClinGen
TCGA novel	345	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763369909 CA7923782	350	I>M		No	ClinGen ExAC gnomAD
rs773649912 CA7923781	350	I>N		No	ClinGen ExAC gnomAD
rs765750400 CA7923780	350	I>V		No	ClinGen ExAC gnomAD
CA278610960 rs944201325	351	K>T		No	ClinGen Ensembl
CA394872637 rs8187852	353	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7923784 rs8187852	353	V>M		No	ClinGen ExAC TOPMed gnomAD
CA394872668 rs35587	354	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs373622441 CA278610992	356	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs373622441 CA7923786	356	T>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA394872711 rs1401691198	357	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	357	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778909281 CA7923789	358	A>V		No	ClinGen ExAC gnomAD
rs758366236 CA7923791	360	D>G		No	ExAC gnomAD ClinGen
CA7923790 rs745730737	360	D>Y		No	ExAC TOPMed gnomAD ClinGen
CA394872766 rs1253946503	362	Q>E		No	ClinGen gnomAD
CA7923793 TCGA novel rs746828599	362	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ExAC gnomAD ClinGen
CA394872815 CA394872814 rs776470140	365	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs747679446 CA7923796	366	Y>C		No	ExAC ClinGen
CA394872854 rs1238947936	367	T>I		No	ClinGen TOPMed
COSM265942 rs200520366 CA7923798	368	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA7923801 rs774668003	373	T>I		No	ExAC gnomAD ClinGen
rs1326176391 CA394872941	373	T>P		No	ClinGen gnomAD
rs957038517 CA278611033	375	C>G		No	TOPMed ClinGen
rs767715278 CA394873029	377	Q>H		No	ExAC TOPMed gnomAD ClinGen
CA394873044 rs1241121563	378	T>S		No	ClinGen gnomAD
rs764026024 CA7923806	380	V>M		No	ExAC TOPMed gnomAD ClinGen
rs753969477 CA7923807	382	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1274103271 CA394873121	382	H>R		No	gnomAD ClinGen
CA7923808 rs758224907	383	Q>H		No	ExAC gnomAD ClinGen
CA394873173 rs1420154520	385	F>Y		No	ClinGen TOPMed gnomAD
rs780178913 CA7923809	389	F>L		No	ExAC gnomAD ClinGen
CA7923811 rs754876461	390	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA394873355 rs1165183221	395	I>V		No	ClinGen gnomAD
CA7923813 rs747688250	396	K>R		No	ExAC gnomAD ClinGen
rs1396983397 CA394873415	398	A>S		No	ClinGen gnomAD
CA7923815 rs566280085	400	I>T		No	ExAC TOPMed gnomAD ClinGen
rs771408113 CA394873572	404	Y>C		No	ExAC TOPMed gnomAD ClinGen
rs771408113 CA7923817	404	Y>F		No	ExAC TOPMed gnomAD ClinGen
rs1225549944 CA394873597	405	R>Q		No	TOPMed gnomAD ClinGen
CA7923818 rs774898997	405	R>W		No	ClinGen ExAC gnomAD
rs1156839689 CA394873630	406	K>N		No	TOPMed ClinGen
TCGA novel	409	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7923841 rs761977911	411	T>S		No	ExAC gnomAD ClinGen
CA7923842 rs77428024	412	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA278612429 rs933580565	414	A>D		No	ClinGen Ensembl
rs1465930777 CA394874359	418	S>F		No	gnomAD ClinGen
rs759507350 CA7923844	418	S>P		No	ClinGen ExAC gnomAD
CA394874361 rs1275608351	419	T>A		No	TOPMed ClinGen
rs767532075 CA7923845	419	T>M		No	ExAC gnomAD ClinGen
CA7923848 rs763651349	421	G>R		No	ExAC gnomAD ClinGen
rs543197774 CA278612453	422	E>A		No	1000Genomes TOPMed ClinGen
CA394874389 rs1405749339	423	I>M		No	gnomAD ClinGen
CA7923849 rs753425055	425	N>S		No	ExAC gnomAD ClinGen
rs1387856757 CA394874415	427	M>I		No	gnomAD ClinGen
rs1366727153 CA394874413	427	M>T		No	TOPMed ClinGen
rs1158545882 CA394874425	429	V>L		No	TOPMed gnomAD ClinGen
rs778349991 CA7923851	431	A>G		No	ExAC gnomAD ClinGen
rs1047731508 CA278612461	431	A>T		No	Ensembl ClinGen
CA7923853 rs758867384	432	Q>E		No	ClinGen ExAC
rs368526713 CA7923854	432	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7923855 rs60782127 VAR_013320 RCV000578689	433	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
CA7923856 rs769129247	439	T>M		No	ClinGen ExAC gnomAD
rs981827707 CA278612478	441	I>V		No	TOPMed ClinGen
rs748322683 CA7923858	447	A>V		No	ClinGen ExAC gnomAD
rs1567347647	449	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	449	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7923860 rs377285314	452	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs532663494 CA7923861	453	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA394874610 rs1319259830	456	Y>C		No	ClinGen Ensembl
CA7923862 rs767344790	457	L>F		No	ClinGen ExAC gnomAD
rs1177711941	460	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs779007189 CA7923898	463	G>D		No	ExAC gnomAD ClinGen
CA394875826 rs1443098513	465	S>P		No	gnomAD ClinGen
CA394875854 rs1364079358	466	V>A		No	gnomAD ClinGen
COSM1243057 CA7923900 rs768562502	466	V>I	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA7923901 rs776611655	468	A>S		No	ClinGen ExAC
CA394875894 rs1169686955	470	V>M		No	ClinGen gnomAD
rs761595745 CA7923902	471	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs78513702 CA7923904	472	V>G		No	ExAC gnomAD ClinGen
CA394875940 rs1433327389	472	V>L		No	gnomAD ClinGen
CA394875990 rs1315784997	473	M>I		No	gnomAD ClinGen
rs765979244 CA7923907	473	M>R		No	ExAC gnomAD ClinGen
rs762618143 CA7923906	473	M>V		No	ExAC gnomAD ClinGen
rs751057346 CA7923908	474	V>G		No	ExAC ClinGen
rs1218730708 CA394875995	474	V>I		No	ClinGen TOPMed
rs992340683 CA278614788	475	L>P		No	ClinGen TOPMed
TCGA novel	475	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278614792 rs914114833	476	M>I		No	Ensembl ClinGen
rs759025659 CA7923909	476	M>T		No	ClinGen ExAC gnomAD
rs1276682146 CA394876049	476	M>V		No	ClinGen TOPMed
CA394876085 rs1322074946	477	V>G		No	ClinGen gnomAD
CA7923910 rs768133082	478	P>T		No	ExAC TOPMed gnomAD ClinGen
rs756700064 CA7923912	479	V>I		No	ExAC TOPMed gnomAD ClinGen
rs1281012892 CA394876152	480	N>S		No	gnomAD ClinGen
CA394876195 rs1202316106	482	V>M		No	gnomAD ClinGen
rs778231132 CA7923913	484	A>V		No	ExAC TOPMed gnomAD ClinGen
CA394876301 rs1567352131	486	K>Q		No	ClinGen Ensembl
CA394876322 rs1189457544	487	T>S		No	ClinGen gnomAD
CA394876333 rs1467209504	489	T>A		No	TOPMed gnomAD ClinGen
rs148042527 CA7923915	489	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200721867 CA7923917	490	Y>H		No	ExAC TOPMed gnomAD ClinGen
rs892069984 CA278616643	494	H>L		No	ClinGen TOPMed
COSM967515 rs1183784458 CA394877102	495	M>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs777074835 CA7923949	495	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
TCGA novel	496	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394877118 rs1412052223	497	S>N		No	TOPMed ClinGen
CA278616667 rs1027266205	499	D>E		No	Ensembl ClinGen
CA278616679 rs529251927	500	N>H		No	ClinGen TOPMed gnomAD
rs553226604 CA7923950	500	N>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1012667895 CA278616694	500	N>K		No	ClinGen Ensembl
rs553226604 CA394877139	500	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529251927 CA278616681	500	N>Y		No	TOPMed gnomAD ClinGen
CA7923951 rs376468016	501	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs1182168974 CA394877150	502	I>N		No	ClinGen TOPMed
CA394877160 rs1167260520	504	L>M		No	gnomAD ClinGen
rs1484362071 CA394877171	505	M>I		No	ClinGen TOPMed
rs766629642 CA7923954	508	I>M		No	ClinGen ExAC TOPMed gnomAD
rs751617110 CA7923955	509	L>F		No	ExAC TOPMed gnomAD ClinGen
rs751617110 CA394877197	509	L>V		No	ExAC TOPMed gnomAD ClinGen
CA7923957 rs371628202	510	N>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA394877221 rs1323847755	513	K>Q		No	ClinGen TOPMed gnomAD
CA394877232 rs1398087621	514	V>E		No	ClinGen TOPMed
rs1313900692 CA394877229	514	V>M		No	TOPMed ClinGen
CA394877259 rs1225780303	518	Y>F		No	TOPMed gnomAD ClinGen
TCGA novel	519	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1274535382 CA394877286	522	L>V		No	ClinGen gnomAD
CA394877290 rs1456361787	523	A>T		No	ClinGen TOPMed
rs749120565 CA7923958	525	K>R		No	ClinGen ExAC gnomAD
CA394877314 rs72547522	526	D>A		No	TOPMed ClinGen
rs1254719855 CA394877311	526	D>N		No	ClinGen TOPMed gnomAD
CA7923959 rs757239573	534	E>G		No	ClinGen ExAC gnomAD
CA394877406 rs1257879173	535	E>V		No	ClinGen gnomAD
CA394877422 rs1426508525	537	K>E		No	TOPMed gnomAD ClinGen
rs778530424 CA7923960	537	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1426508525 CA394877421	537	K>Q		No	TOPMed gnomAD ClinGen
rs771824631 CA7923962	542	S>A		No	ExAC gnomAD ClinGen
rs1171711764 CA394877512	544	Y>C		No	ClinGen gnomAD
CA7923964 rs746517889	547	A>T		No	ClinGen ExAC TOPMed
rs776222198 CA7923966	548	V>L		No	ExAC TOPMed gnomAD ClinGen
CA278616824 rs950698986	550	T>I		No	TOPMed gnomAD ClinGen
CA394877656 rs1473878950	552	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA7923967 rs373006477	554	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	555	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7923969 rs773536538	556	T>M		No	ExAC TOPMed gnomAD ClinGen
CA394877738 rs1366411939	557	P>A		No	ClinGen gnomAD
CA394877759 rs1231191465	558	F>L		No	ClinGen gnomAD
rs35605 CA394880784	562	L>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7924008 rs377243541	563	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7924009 rs377243541	563	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA394880846 rs1413504287	566	A>G		No	ClinGen gnomAD
CA394880838 rs1161706450	566	A>T		No	gnomAD ClinGen
CA394880852 rs545772203	567	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA7924010 rs545772203 COSM1563234	567	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1253692082 CA394880869	568	Y>C		No	TOPMed ClinGen
TCGA novel	568	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7924012 rs776876694	569	V>G		No	ClinGen ExAC gnomAD
COSM1640409 CA278628497 rs1037769867	569	V>M	stomach [Cosmic]	No	TOPMed ClinGen cosmic curated
rs905537834 CA278628504	570	T>A		No	Ensembl ClinGen
rs762946711 CA7924013	571	I>T		No	ExAC gnomAD ClinGen
rs1308042333 CA394880898	571	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7924016 rs754860602	573	E>G		No	ClinGen ExAC gnomAD
rs751292519 COSM278533 CA7924015	573	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA394880970 rs1372214591	574	N>K		No	ClinGen gnomAD
rs977368868 CA278628534	574	N>S		No	TOPMed ClinGen
CA278628555 rs912574228	576	I>F		No	ClinGen TOPMed gnomAD
rs912574228 CA394880992	576	I>V		No	ClinGen TOPMed gnomAD
rs753360625 CA278628557	578	D>G		No	ClinGen Ensembl
rs375480187 CA278628562	579	A>S		No	ESP ClinGen
CA7924018 rs767073045	581	T>R		No	ExAC gnomAD ClinGen
CA394881103 rs1205826238	582	A>T		No	ClinGen TOPMed gnomAD
rs1020445221 CA278628577	582	A>V		No	ClinGen Ensembl
CA394881132 rs1325918780	583	F>L		No	TOPMed ClinGen
TCGA novel	584	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278628585 rs368340485	584	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP TOPMed gnomAD ClinGen NCI-TCGA
CA394881225 rs1567367683	588	L>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA394881337 rs1388710694	593	R>Q		No	ClinGen gnomAD
rs748834989 CA7924022	593	R>W		No	ExAC gnomAD ClinGen
rs1429628634 CA394881371	595	P>H		No	ClinGen gnomAD
rs1371844619 CA394881405	598	I>F		No	gnomAD ClinGen
rs1371844619 CA394881403	598	I>V		No	ClinGen gnomAD
rs371204002 CA7924025	599	L>F		No	ESP ExAC gnomAD ClinGen
rs371204002 CA7924024	599	L>V		No	ESP ExAC gnomAD ClinGen
TCGA novel	603	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7924028 rs747209855	605	S>N		No	ExAC gnomAD ClinGen
rs1253738998 CA394881494	606	I>T		No	ClinGen TOPMed
rs1299789871 CA394881505	607	V>L		No	TOPMed gnomAD ClinGen
rs1299789871 CA394881503	607	V>M		No	TOPMed gnomAD ClinGen
rs758909835	609	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7924059 rs376847594	609	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs1386094463 CA394882456	610	S>N		No	ClinGen gnomAD
rs780478003 CA7924061	614	K>R		No	ClinGen ExAC gnomAD
rs780478003 CA394882535	614	K>T		No	ExAC gnomAD ClinGen
rs868858703 CA278630871	615	R>C		No	gnomAD ClinGen
TCGA novel	616	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	618	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278630883 rs926309850	620	L>F		No	ClinGen TOPMed
rs1241657547 CA394882677	621	S>F		No	TOPMed ClinGen
CA394882692 rs1567372029	622	H>L		No	Ensembl ClinGen
rs769940445 CA7924066	625	L>P		No	ExAC gnomAD ClinGen
rs983944894 CA278630891	625	L>V		No	Ensembl ClinGen
CA394882765 rs1449683093	626	E>A		No	gnomAD ClinGen
TCGA novel	626	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1209738361 CA394882758	626	E>K		No	TOPMed gnomAD ClinGen
rs1209738361 CA394882761	626	E>Q		No	ClinGen TOPMed gnomAD
rs1452821953 COSM222316 CA394882792	627	P>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA394882832 rs1179317371	629	S>N		No	ClinGen gnomAD
rs1167179104 CA394882869	631	E>A		No	ClinGen TOPMed gnomAD
CA7924067 rs777878081	631	E>K		No	ClinGen ExAC gnomAD
rs1160953052 CA394882884	632	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM3936942 CA7924068 COSM3936943 rs749375950	632	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs112282109 CA7924069 VAR_011488	633	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA278630903 rs1023496902	633	R>W		No	TOPMed gnomAD ClinGen
CA7924071 rs760608672	635	V>D		No	ExAC TOPMed gnomAD ClinGen
CA7924070 rs775352280	635	V>F		No	ClinGen ExAC gnomAD
rs768571544	638	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA394882972 rs1324068585	638	G>R		No	ClinGen gnomAD
rs1324068585 CA394882970	638	G>S		No	ClinGen gnomAD
CA7924100 rs774022771	639	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7924099 rs539166124	639	G>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA7924098 rs539166124	639	G>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs201702388 CA7924101	640	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7924103 rs753098037	641	T>A		No	ClinGen ExAC gnomAD
rs756498834 COSM1376125 CA7924104	641	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs756498834 CA7924105	641	T>R		No	ClinGen ExAC TOPMed gnomAD
CA394884039 rs1305364505	642	N>D		No	ClinGen TOPMed
CA7924106 rs371578824	643	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320458551 CA394884080	644	I>V		No	gnomAD ClinGen
rs566146737 CA7924109	646	V>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA7924108 rs566146737	646	V>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA7924110 rs368329174	647	R>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA278633286 rs865925560	649	A>D		No	ClinGen Ensembl
rs781168202 CA7924111	649	A>T		No	ClinGen ExAC TOPMed gnomAD
CA278633290 rs865925560	649	A>V		No	Ensembl ClinGen
TCGA novel	650	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747971703 CA7924112	651	F>L		No	ClinGen ExAC gnomAD
CA394884148 rs1207816737	652	T>A		No	TOPMed gnomAD ClinGen
rs1248421193 CA394884152	652	T>I		No	gnomAD ClinGen
rs773075512 CA7924114	653	W>L		No	ClinGen ExAC gnomAD
CA7924115 rs372052336	654	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1423129770 CA394884177	656	S>T		No	TOPMed gnomAD ClinGen
CA7924117 rs773974550	657	D>N		No	ExAC TOPMed gnomAD ClinGen
rs759175166 CA7924118	658	P>S		No	ExAC TOPMed gnomAD ClinGen
rs1341653115 CA394884195	659	P>S		No	TOPMed ClinGen
rs768133144 CA7924119	660	T>I		No	ClinGen ExAC
CA394884205 rs1254351151	661	L>V		No	ClinGen TOPMed
rs764314550 CA7924122	662	N>S		No	ClinGen ExAC TOPMed gnomAD
rs200085313 CA7924123	663	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388580805 CA394884940	664	I>V		No	TOPMed ClinGen
CA394884976 rs757045428	666	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	668	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278635041 rs976766220	670	E>K		No	ClinGen TOPMed gnomAD
CA394885014 rs976766220	670	E>Q		No	ClinGen TOPMed gnomAD
VAR_011489 RCV002291809 CA7924154 rs45511401	671	G>V	no effect on leukotriene C4 and estradiol glucuronide transport [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs936114978 CA278635043	672	A>S		No	Ensembl ClinGen
rs1448295521 CA394885041	672	A>V		No	ClinGen TOPMed
CA394885060 rs1209220672	674	V>L		No	TOPMed ClinGen
TCGA novel	675	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748662966 CA7924158	676	V>M		No	ExAC TOPMed gnomAD ClinGen
rs551578363 CA7924159	679	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
CA394885148 rs1567380029	681	G>V		No	ClinGen Ensembl
CA7924160 rs773589653	682	C>Y		No	ExAC ClinGen
TCGA novel	683	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766665700 CA7924162 COSM1376126	683	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA278635077 rs201312381	689	S>L		No	Ensembl ClinGen
CA394885205 rs1406500819	691	L>V		No	ClinGen TOPMed
rs1474213579 CA394885212	692	L>S		No	gnomAD ClinGen
rs753751054 CA7924166	693	A>T		No	ClinGen ExAC gnomAD
CA394885238 rs1379651047	696	D>H		No	gnomAD ClinGen
CA7924170 rs750280992	701	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs375076305 CA7924168	701	H>Y		No	ESP ExAC TOPMed gnomAD ClinGen
rs779817325 CA7924171	702	V>M		No	ClinGen ExAC gnomAD
rs1273811311 CA394885297	704	I>M		No	gnomAD ClinGen
rs909765713 CA278637241	707	S>A		No	ClinGen TOPMed gnomAD
rs749798264 CA394885912 CA7924198	708	V>L		No	ClinGen ExAC TOPMed gnomAD
rs749798264 CA7924197	708	V>M		No	ExAC TOPMed gnomAD ClinGen
CA394885929 rs1225610690	709	A>S		No	ClinGen gnomAD
TCGA novel	712	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303795316 CA394886022	715	A>V		No	TOPMed ClinGen
TCGA novel	718	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752310797 CA7924201	719	N>S		No	ClinGen ExAC
TCGA novel	719	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775687628 CA7924203	720	D>A		No	ClinGen ExAC gnomAD
CA7924202 rs201909680	720	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1287034985 CA394886112	722	L>V		No	ClinGen gnomAD
CA7924204 rs760898018	723	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7924205 rs773219940	724	E>G		No	ExAC ClinGen
rs939059682 CA278637261	724	E>K		No	ClinGen TOPMed gnomAD
CA394886132 rs939059682	724	E>Q		No	TOPMed gnomAD ClinGen
rs1481185550 CA394886148	725	N>D		No	gnomAD ClinGen
CA394886197 rs1258429220	729	G>R		No	ClinGen gnomAD
CA7924206 rs762817019	730	C>Y		No	ExAC gnomAD ClinGen
CA7924207 rs766149833	731	Q>H		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	731	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394886271 rs1211132534	733	E>Q		No	ClinGen TOPMed gnomAD
CA394886290 rs751343667	734	E>K		No	ExAC TOPMed gnomAD ClinGen
CA7924208 rs751343667	734	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA394886336 rs1490824817	736	Y>H		No	ClinGen TOPMed
CA7924212 rs752196316	740	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7924213 rs755552612	741	I>T		No	ExAC gnomAD ClinGen
CA394886426 rs1286731842	742	Q>E		No	ClinGen gnomAD
rs777278315 CA7924214	743	A>V		No	ClinGen ExAC gnomAD
rs1307833935 CA394886479	745	A>G		No	TOPMed ClinGen
rs1043882344 CA278637290	746	L>P		No	Ensembl ClinGen
CA7924217 rs779302392	748	P>R		No	ClinGen ExAC gnomAD
CA394886563 rs1252381028	752	I>T		No	ClinGen gnomAD
CA7924220 rs780493659	754	P>R		No	ExAC gnomAD ClinGen
CA394886598 rs1250694431	755	S>N		No	ClinGen gnomAD
COSM1243970 rs776877086 CA7924223	758	R>Q	oesophagus [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA7924222 rs763841979	758	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA278637301 rs904089029	759	T>K		No	ClinGen Ensembl
CA278637307 rs753635841	763	E>K		No	ExAC TOPMed gnomAD ClinGen
rs753635841 CA7924226	763	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1395966407 CA394886720	764	K>R		No	gnomAD ClinGen
TCGA novel	764	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278638932 rs1023310563	765	G>S		No	Ensembl ClinGen
rs1296672475 CA394887124	766	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1391292372 CA394887148	769	S>F		No	ClinGen gnomAD
CA7924245 rs771804705	775	R>C		No	ExAC TOPMed gnomAD ClinGen
rs773203154 CA7924246	775	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763781150 CA7924248 COSM967530	776	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs1253945701 CA394887210	779	A>G		No	gnomAD ClinGen
CA394887215 rs761294419	780	R>L		No	ExAC TOPMed gnomAD ClinGen
CA7924250 rs761294419	780	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA7924249 rs776187779	780	R>W		No	ExAC gnomAD ClinGen
rs376727124 CA394887222	782	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7924252 rs376727124	782	V>M		No	ExAC TOPMed gnomAD ClinGen
CA394887242 rs1172791851	785	N>D		No	TOPMed gnomAD ClinGen
CA278638972 rs369801648	785	N>S		No	Ensembl ClinGen
rs372067353 CA7924255	786	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7924256 rs755229163	788	I>V		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	791	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394887290 rs1248532674	792	D>H		No	TOPMed gnomAD ClinGen
COSM3794618 rs866613558 CA278639012 COSM3794617	794	P>S	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	797	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7924261 rs745761246	800	A>V		No	ClinGen ExAC gnomAD
CA7924263 rs775242422	801	H>R		No	ClinGen ExAC gnomAD
rs772033548 CA7924262	801	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	803	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746862565 CA7924264	807	F>V		No	ClinGen ExAC gnomAD
rs936841807 CA278639063	813	P>S		No	TOPMed ClinGen
CA394887439 rs1188291845	814	K>R		No	TOPMed gnomAD ClinGen
CA394887452 rs1480202602	816	M>K		No	ClinGen gnomAD
rs1194508286 CA394887483	820	K>R		No	ClinGen gnomAD
COSM3690774 COSM3690775 rs1358799070 CA394865519	821	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1436251002 CA394865530	822	R>Q		No	ClinGen gnomAD
CA278617117 rs936320134	822	R>W		No	TOPMed gnomAD ClinGen
rs1331529340 CA394865605	825	V>D		No	TOPMed ClinGen
rs771563065 CA7924291	826	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	827	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1182274492 CA394865715	829	M>T		No	ClinGen gnomAD
rs1007282582 CA278617131	830	S>R		No	TOPMed gnomAD ClinGen
CA278617134 rs748778740	830	S>T		No	Ensembl ClinGen
rs760139672 CA7924293	831	Y>C		No	ExAC gnomAD ClinGen
rs760139672 CA278617135	831	Y>S		No	ClinGen ExAC gnomAD
rs767731002 CA7924294	832	L>F		No	ExAC gnomAD ClinGen
CA394865970 rs1164896014	832	L>V		No	gnomAD ClinGen
CA7924296 rs760781144	833	P>L		No	ClinGen ExAC gnomAD
CA7924295 rs753141971	833	P>T		No	ClinGen ExAC gnomAD
CA7924298 rs753909153	834	Q>L		No	ExAC gnomAD ClinGen
CA7924300 rs778975641	835	V>A		No	ClinGen ExAC gnomAD
rs754975789 CA7924302	837	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368349372 CA7924304	838	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7924303 rs780819239	838	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375686377 CA7924305	839	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375686377 CA394866120	839	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1206584014 CA394866118	839	I>V		No	TOPMed ClinGen
CA7924307 rs779892061	840	V>I		No	ExAC TOPMed gnomAD ClinGen
CA394866162 rs1462121804	841	M>T		No	ClinGen gnomAD
rs770514383 CA7924308	842	S>N		No	ExAC gnomAD ClinGen
CA394866236 rs1186727239	844	G>A		No	gnomAD ClinGen
rs186193767 CA7924310	844	G>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1034327905 CA278617287 COSM1518073	849	M>I	lung [Cosmic]	No	gnomAD ClinGen cosmic curated
rs772679953 CA7924311	850	G>D		No	ClinGen ExAC gnomAD
CA394866329 rs1406571843	851	S>F		No	gnomAD ClinGen
CA394866340 rs1470902677	852	Y>*		No	ClinGen gnomAD
CA394866374 rs1382727737	854	E>G		No	ClinGen TOPMed
rs372819404 CA7924312	854	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA394866421 rs1364303106	858	R>*		No	TOPMed gnomAD ClinGen
rs1364303106 CA394866419	858	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs753999875 CA7924316	858	R>P		No	ClinGen ExAC TOPMed gnomAD
rs753999875 CA7924315	858	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750543476 CA7924318	860	G>S		No	ClinGen ExAC TOPMed gnomAD
VAR_055384 CA7924320 rs45517537	861	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen UniProt NCI-TCGA dbSNP
CA7924323 rs777727174	863	A>G		No	ExAC gnomAD ClinGen
CA394866493 rs1193186185	863	A>T		No	gnomAD ClinGen
rs748907288 CA7924324	866	L>P		No	ClinGen ExAC gnomAD
rs372028376 CA7924325	867	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs778539912 CA7924326	867	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778539912 CA394866546	867	R>L		No	ClinGen ExAC TOPMed gnomAD
CA278617424 rs769133677	868	T>S		No	ClinGen gnomAD
CA7924328 rs772452838	869	Y>*		No	ExAC gnomAD ClinGen
rs745437606 CA7924327	869	Y>C		No	ExAC gnomAD ClinGen
CA394866584 rs1401251328	870	A>V		No	ClinGen gnomAD
rs1362592973 CA394866614	872	T>I		No	ClinGen gnomAD
rs1362592973 CA394866616	872	T>R		No	ClinGen gnomAD
rs1215388475 CA394866618	873	E>K		No	ClinGen TOPMed
rs772753662 CA278617464	875	E>K		No	ExAC gnomAD ClinGen
rs772753662 CA7924330	875	E>Q		No	ExAC gnomAD ClinGen
CA394866650 rs1346523297	876	Q>R		No	ClinGen gnomAD
rs1225667299 CA394866667	878	A>V		No	ClinGen gnomAD
rs777013039 CA394866692	882	G>R		No	ExAC TOPMed gnomAD ClinGen
rs777013039 CA7924332	882	G>W		No	ExAC TOPMed gnomAD ClinGen
rs1187794382 CA394868438	883	V>L		No	ClinGen TOPMed gnomAD
CA7924386 rs751066573	884	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs376361536 CA394868456	885	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs376361536 CA7924388	885	G>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA7924390 VAR_083992 rs756648375	886	V>I	Variant assessed as Somatic; 0.0001735 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD UniProt
CA394868457 rs756648375	886	V>L		No	ClinGen ExAC TOPMed gnomAD
rs567850671 CA394868465	887	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7924392 rs567850671	887	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA278627980 rs907741900	888	G>S		No	ClinGen TOPMed gnomAD
CA394868488 rs1205694673	889	P>S		No	ClinGen TOPMed
CA7924395 rs746100124	891	K>N		No	ExAC gnomAD ClinGen
CA7924396 rs772229415	892	E>A		No	ClinGen ExAC gnomAD
CA394868527 rs1238302044	892	E>D		No	gnomAD ClinGen
CA394868532 rs1260186456	893	A>S		No	ClinGen gnomAD
CA394868542 rs1488695188	894	K>E		No	gnomAD ClinGen
rs1488695188 CA394868539	894	K>Q		No	ClinGen gnomAD
CA7924398 rs761809997	895	Q>E		No	ExAC gnomAD ClinGen
CA394868560 rs1309596948	895	Q>H		No	ClinGen TOPMed
rs769669863 CA7924399	896	M>T		No	ExAC gnomAD ClinGen
CA394868566 rs1490247858	896	M>V		No	gnomAD ClinGen
CA7924400 rs773048855	897	E>K		No	ClinGen ExAC gnomAD
rs762722945 COSM69489 CA7924401	898	N>S	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs762722945 CA394868594	898	N>T		No	ExAC TOPMed gnomAD ClinGen
rs1353662688 CA394868605	899	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA278628045 rs1028292194	899	G>S		No	ClinGen TOPMed
rs1363872336 CA394868615	900	M>T		No	TOPMed gnomAD ClinGen
rs773939267 CA7924403	901	L>V		No	ClinGen ExAC gnomAD
rs1405203094 CA394868646	903	T>M		No	gnomAD ClinGen
rs952680678 CA394868659	904	D>E		No	ClinGen TOPMed gnomAD
rs766977294 CA394868665	905	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7924405 rs766977294	905	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1355780947 CA394868675	906	A>S		No	ClinGen gnomAD
CA394868679 rs1567405848	906	A>V		No	Ensembl ClinGen
CA394868680 rs1242318409	907	G>R		No	ClinGen gnomAD
rs1289729420 CA394868738	910	L>P		No	ClinGen gnomAD
rs567605759 CA7924435	913	Q>R		No	1000Genomes ExAC gnomAD ClinGen
rs1283073784 CA394869786	917	S>P		No	gnomAD ClinGen
rs774116442 CA7924439	918	S>F		No	ClinGen ExAC TOPMed gnomAD
CA278632771 rs774116442	918	S>Y		No	ExAC TOPMed gnomAD ClinGen
CA7924441 rs771853984	920	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA394869802 rs1216873265	920	Y>H		No	ClinGen gnomAD
CA394869817 rs1567412105	922	G>R		No	Ensembl ClinGen
CA7924442 rs375878723	925	S>N		No	ESP ExAC gnomAD ClinGen
rs1291621197 CA394869848	926	R>T		No	TOPMed ClinGen
rs367914331 CA278632790	927	H>R		No	ESP TOPMed ClinGen
CA394869853 rs1247359035	927	H>Y		No	ClinGen TOPMed
CA394869863 rs1478950298	928	H>P		No	ClinGen gnomAD
CA394869864 rs1596512270	928	H>Q		No	Ensembl ClinGen
CA394869870 rs1156812906	929	N>S		No	TOPMed gnomAD ClinGen
rs1419109707 CA394869875	930	S>G		No	ClinGen gnomAD
CA7924444 rs768011444 COSM1376128	932	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM1376129 CA7924445 rs375097324	932	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA394869918 rs1320569864	936	K>I		No	TOPMed ClinGen
rs1332083957 CA394869923	937	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7924447 rs530286901	939	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1555499851 CA7924449	941	K>E		No	ClinGen Ensembl
CA7924451 rs750814520	941	K>R		No	ClinGen ExAC TOPMed gnomAD
CA394869965 rs1240160521	942	E>K		No	ClinGen gnomAD
rs763342308 CA7924452	943	E>D		No	ExAC gnomAD ClinGen
CA394870006 rs1356766439	944	T>I		No	ClinGen TOPMed gnomAD
CA394870019 rs1267785557	945	W>C		No	gnomAD ClinGen
rs766865175 CA7924453	945	W>R		No	ClinGen ExAC gnomAD
rs375568401 CA7924454	948	M>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA394870050 rs1179410937	948	M>L		No	gnomAD ClinGen
rs1232163656 CA394870054	948	M>T		No	ClinGen gnomAD
CA278632863 rs1028036851	950	A>D		No	ClinGen Ensembl
CA394870081 rs1567412297	950	A>T		No	Ensembl ClinGen
CA394870106 rs1382296482	952	K>Q		No	gnomAD ClinGen
rs781105458 CA7924456	952	K>R		No	ClinGen ExAC gnomAD
rs781105458 CA394870113	952	K>T		No	ExAC gnomAD ClinGen
CA7924457 rs201798499	953	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs757179251 CA7924458	953	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1223769879 CA394870144	954	Q>H		No	TOPMed ClinGen
rs1376762877 CA394870179	957	Q>R		No	gnomAD ClinGen
rs768191257 CA7924486	959	K>R		No	ExAC TOPMed gnomAD ClinGen
CA7924487 rs780831828	960	L>F		No	ExAC gnomAD ClinGen
CA7924488 rs747819189	961	S>P		No	ExAC gnomAD ClinGen
CA7924490 rs371105838	962	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7924491 rs749784229	966	Y>H		No	ClinGen ExAC
CA394870911 rs1429275692	967	M>V		No	TOPMed ClinGen
rs1024727052 CA278636564	969	A>V		No	TOPMed gnomAD ClinGen
rs891359706 CA278636572	970	I>V		No	ClinGen TOPMed
rs1198050880 CA394870984	971	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA394871027 rs1340762864	973	F>V		No	gnomAD ClinGen
COSM3706873 rs767782192 CA7924495 COSM3706874	977	L>F	liver [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs1452128494 CA394871134	978	S>R		No	TOPMed ClinGen
rs775729751 CA7924496	979	I>V		No	ExAC gnomAD ClinGen
CA394871173 rs1191312533	980	F>I		No	TOPMed gnomAD ClinGen
rs764126862 CA7924498	981	L>P		No	ClinGen ExAC gnomAD
CA394871242 rs1488757097	983	M>L		No	gnomAD ClinGen
rs576589695 CA7924500	983	M>T		No	1000Genomes ExAC gnomAD ClinGen
CA394871241 rs1488757097	983	M>V		No	ClinGen gnomAD
rs1417361310 CA394871332	987	V>M		No	gnomAD ClinGen
rs754744159 CA7924503	988	S>C		No	ClinGen ExAC gnomAD
rs751456460 CA7924502	988	S>T		No	ExAC TOPMed gnomAD ClinGen
CA7924506 rs35529209	989	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7924505 rs35529209	989	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7924507 rs367755620	989	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA7924510 rs774858717	993	N>S		No	ExAC TOPMed gnomAD ClinGen
CA394871700 rs1371321412	1003	P>L		No	ClinGen TOPMed
CA394871705 rs1303242575	1004	I>V		No	gnomAD ClinGen
CA7924514 rs533057319	1005	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7924515 rs374082594	1006	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394871758 rs374082594	1006	N>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA394871771 rs1478275091	1007	G>E		No	TOPMed ClinGen
VAR_083993 rs200760311 CA7924517	1007	G>R		No	ESP ExAC TOPMed gnomAD ClinGen UniProt
CA278636678 rs943498117	1009	Q>R		No	TOPMed ClinGen
rs765246385 CA7924518	1012	T>M		No	ClinGen ExAC TOPMed gnomAD
CA394871834 rs765246385	1012	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1192157012 CA394871831	1012	T>S		No	TOPMed gnomAD ClinGen
rs754904461 CA7924520	1013	K>E		No	ExAC gnomAD ClinGen
CA278636709 rs914307590	1013	K>N		No	ClinGen TOPMed gnomAD
CA394871859 rs1421107346	1015	R>W		No	ClinGen gnomAD
rs201166561 CA7924523	1018	V>I		No	ExAC TOPMed gnomAD ClinGen
CA7924524 rs777639281	1019	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs748958517 CA7924525	1024	I>V		No	ExAC gnomAD ClinGen
rs1308578698 CA394871967	1025	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA278636757 rs899551240	1026	Q>R		No	ClinGen TOPMed
rs942306533 CA278639153 COSM702671	1029	A>T	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1358696501 CA394873259	1030	V>A		No	ClinGen gnomAD
CA7924546 rs778463333	1030	V>M		No	ExAC TOPMed gnomAD ClinGen
CA394873318 rs1401475576	1034	S>T		No	TOPMed gnomAD ClinGen
rs758939262 CA7924548	1035	M>V		No	ClinGen ExAC gnomAD
rs780471010 CA7924549	1036	A>P		No	ClinGen ExAC gnomAD
rs1218360270 CA394873369	1036	A>V		No	ClinGen gnomAD
rs377374178 CA7924551	1037	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs781569944 CA7924552	1039	I>F		No	ClinGen ExAC gnomAD
rs1294368184 CA394873409	1040	G>E		No	ClinGen TOPMed gnomAD
rs1312320195 CA394873406	1040	G>R		No	ClinGen TOPMed gnomAD
rs376107020 COSM73531 CA7924562	1046	R>C	ovary [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
CA7924563 rs761512468	1046	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs376107020 CA7924561	1046	R>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs13337489 CA394873520	1047	C>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA230662 RCV000106400 rs483352862	1047	C>G		No	ClinGen ClinVar dbSNP gnomAD
CA394873511 rs483352862	1047	C>R		No	ClinGen gnomAD
VAR_055385 CA7924564 rs13337489	1047	C>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs13337489 COSM1737504 CA7924565	1047	C>Y	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs898683852 CA278639244	1050	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs902354855 CA278639250	1051	D>E		No	ClinGen gnomAD
CA7924567 rs765897008	1051	D>V		No	ExAC TOPMed gnomAD ClinGen
rs755519863 CA7924570	1056	I>V		No	ClinGen ExAC gnomAD
VAR_013322 CA7924575 rs41410450	1058	R>Q		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA7924573 rs201602318	1058	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1352504867 CA394873697	1059	S>L		No	ClinGen gnomAD
rs774610184 CA7924577	1061	M>I		No	ExAC gnomAD ClinGen
rs578205826 CA394873716	1061	M>L		No	1000Genomes ExAC gnomAD ClinGen
rs578205826 CA7924576	1061	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1211525238 CA394873733	1062	S>N		No	ClinGen TOPMed gnomAD
rs1449714323 CA394873752	1063	F>C		No	gnomAD ClinGen
CA394873761 rs1466829190	1064	F>L		No	ClinGen TOPMed
CA7924578 rs368631423	1065	E>D		No	ESP ExAC gnomAD ClinGen
TCGA novel	1065	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7924580 rs376842425	1066	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs199773531 CA7924579	1066	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1239383143 CA394873812	1068	P>L		No	TOPMed ClinGen
TCGA novel	1069	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7924582 rs765093779	1071	N>I		No	ExAC ClinGen
CA7924584 rs762625702	1073	V>L		No	ExAC gnomAD ClinGen
rs765845567 CA7924585	1075	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1332134293 CA394873926	1077	S>A		No	ClinGen TOPMed gnomAD
rs1282212869 CA394873928	1077	S>Y		No	ClinGen TOPMed
CA7924587 rs755467136	1078	K>R		No	ExAC TOPMed gnomAD ClinGen
CA394873953 rs767978968	1079	E>D		No	ExAC gnomAD ClinGen
CA7924589 rs753256465	1080	L>V		No	ExAC gnomAD ClinGen
CA394873967 rs1240404934	1082	T>A		No	gnomAD ClinGen
VAR_083994 CA394873995 rs1353827915	1086	M>T		No	ClinGen TOPMed gnomAD UniProt
CA7924590 rs200199506	1086	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs749437088 CA7924592	1088	P>L		No	ClinGen ExAC gnomAD
CA278639377 rs963597210	1091	I>T		No	ClinGen Ensembl
rs935835833 CA278639374	1091	I>V		No	ClinGen TOPMed
TCGA novel	1093	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7924595 rs779120162	1094	F>I		No	ClinGen ExAC gnomAD
CA278639382 rs974028398	1094	F>L		No	ClinGen Ensembl
rs1439096834 CA394874060	1095	M>I		No	gnomAD ClinGen
CA394874058 rs1333050608	1095	M>T		No	ClinGen TOPMed
rs1179339258 CA394874065	1096	G>S		No	ClinGen gnomAD
CA7924597 rs772280715	1098	L>M		No	ExAC gnomAD ClinGen
CA7924599 rs748139205	1101	V>I		No	ClinGen ExAC gnomAD
CA394874106 rs1329987792	1102	I>M		No	gnomAD ClinGen
rs1296727715 CA394874104	1102	I>T		No	ClinGen TOPMed
rs182118381 CA7924601	1103	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769436212 CA7924600	1103	G>S		No	ExAC gnomAD ClinGen
rs766080836 CA7924603	1106	I>F		No	ExAC gnomAD ClinGen
rs766080836 CA394874126	1106	I>L		No	ClinGen ExAC gnomAD
CA7924604 rs199698664	1106	I>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA394874130 rs1367965919	1107	V>I		No	TOPMed ClinGen
CA394874143 rs1444327921	1109	L>V		No	ClinGen TOPMed
TCGA novel	1110	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394874160 rs1257267432	1112	T>A		No	ClinGen gnomAD
CA394874161 rs1257267432	1112	T>S		No	ClinGen gnomAD
rs753100536 CA7924608	1113	P>S		No	ClinGen ExAC gnomAD
CA394874172 rs1306558922	1114	I>F		No	ClinGen TOPMed gnomAD
COSM259275 rs371062976 CA7924611	1115	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA7924612 rs757545993	1115	A>V		No	ExAC TOPMed gnomAD ClinGen
CA7924614 rs200039403	1116	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1279303413 CA394874185	1116	A>V		No	gnomAD ClinGen
rs758502983 CA7924615	1117	I>V		No	ClinGen ExAC gnomAD
CA7924616 rs780214656	1120	P>L		No	ClinGen ExAC gnomAD
CA394874209 rs780214656	1120	P>Q		No	ExAC gnomAD ClinGen
CA7924618 rs769820932	1121	P>A		No	ClinGen ExAC gnomAD
rs1596526664 CA394874214	1121	P>L		No	ClinGen Ensembl
rs1399517003 CA394874218	1122	L>F		No	gnomAD ClinGen
CA7924619 rs528927468	1122	L>P		No	1000Genomes ExAC gnomAD ClinGen
rs770719562 CA7924621	1123	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1275959860 CA394874227	1124	L>F		No	ClinGen TOPMed
TCGA novel	1125	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1277349959 CA394874253 CA394874252	1127	F>L		No	gnomAD ClinGen
rs773939085 CA7924622	1127	F>S		No	ClinGen ExAC gnomAD
rs74985930 CA7924624 COSM702670	1129	V>I	lung [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs760937281 CA278644231	1134	V>M		No	gnomAD ClinGen
rs1387333493 CA394874697	1138	R>L		No	gnomAD ClinGen
CA394874695 rs1387333493	1138	R>Q	Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA278644241 rs924162825	1138	R>W		No	TOPMed gnomAD ClinGen
rs757142392 CA7924656	1140	L>Q		No	ClinGen ExAC gnomAD
rs986118355 CA278644256	1141	K>N		No	ClinGen Ensembl
CA278644261 rs1019577442	1142	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
COSM1733511 rs778697425 CA7924657	1142	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM967536 rs1264102348 CA394874728	1144	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs758126674 CA7924659	1145	S>L		No	ClinGen ExAC TOPMed gnomAD
rs28706727 CA7924661 VAR_055386 RCV000887042	1146	V>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7924662 rs753904549	1147	S>G		No	ExAC gnomAD ClinGen
CA7924663 COSM1181318 rs776242041	1148	R>C	large_intestine [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA7924664 rs748686682	1148	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394874767 rs1162408238	1150	P>L		No	ClinGen gnomAD
rs929112583 CA278644295	1151	V>I		No	ClinGen gnomAD
CA7924667 rs763439346	1152	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA394874808 rs766636573	1156	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA394874823 rs1444600500	1158	T>I		No	TOPMed gnomAD ClinGen
CA7924672 rs752719574	1162	V>F		No	ClinGen ExAC gnomAD
rs757193902 CA7924673	1163	S>G		No	ExAC gnomAD ClinGen
CA394874850 rs1321556726	1163	S>T		No	ClinGen gnomAD
rs758264208 CA7924676	1164	V>A		No	ClinGen ExAC gnomAD
rs202134920 CA7924675	1164	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs368794890 CA7924677 COSM556878	1166	R>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA278644342 rs906863394	1166	R>Q		No	gnomAD ClinGen
CA7924678 rs746706457	1167	A>T		No	ExAC TOPMed gnomAD ClinGen
rs369577839 CA7924680	1169	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA394874907 rs1172974137	1172	E>G		No	gnomAD ClinGen
rs1015259132 CA394874904	1172	E>K		No	TOPMed gnomAD ClinGen
CA278644375 rs1015259132	1172	E>Q		No	TOPMed gnomAD ClinGen
rs1421331644 CA394874911	1173	R>C		No	TOPMed gnomAD ClinGen
rs747593165 CA7924681	1173	R>H		No	ClinGen ExAC TOPMed gnomAD
CA394874931 rs1444623364	1175	I>M		No	gnomAD ClinGen
rs1461895314 CA394874932	1176	H>N		No	gnomAD ClinGen
CA7924684 rs749733610	1177	Q>*		No	ExAC gnomAD ClinGen
CA394874945 CA278649580 rs1021755591	1177	Q>H		No	ClinGen gnomAD
rs771364147 CA7924685	1180	L>R		No	ExAC gnomAD ClinGen
rs375205571 CA7924688	1184	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs369759884 CA7924689	1186	Q>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA7924690 rs760804978	1188	A>T		No	ExAC TOPMed ClinGen
CA394875022 rs1324728097	1188	A>V		No	ClinGen gnomAD
COSM1563233 rs1308685899 CA394875027	1189	Y>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs750416230 CA7924692	1191	P>A		No	ExAC gnomAD ClinGen
CA394875040 rs750416230	1191	P>S		No	ExAC gnomAD ClinGen
CA7924693 rs762759641	1192	S>G		No	ClinGen ExAC gnomAD
CA394875060 rs1260814208	1194	V>L		No	TOPMed gnomAD ClinGen
rs1260814208 CA394875058	1194	V>M		No	TOPMed gnomAD ClinGen
CA7924727 rs560033743	1201	V>L		No	ExAC TOPMed gnomAD ClinGen
CA7924726 rs560033743	1201	V>M		No	ExAC TOPMed gnomAD ClinGen
rs371923401 CA7924728	1202	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA278651968 rs769212105	1202	R>W		No	Ensembl ClinGen
rs1252441150 CA394875660	1203	L>V		No	gnomAD ClinGen
rs774477276 COSM556877 CA7924732	1204	E>D	lung [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA7924730 rs769902814	1204	E>G		No	ClinGen ExAC gnomAD
rs1378642389 CA394875681	1205	C>G		No	gnomAD ClinGen
rs1469859200 CA394875686	1205	C>Y		No	gnomAD ClinGen
rs1159477247 CA394875720	1208	N>S		No	gnomAD ClinGen
CA7924735 rs760384485	1211	V>I		No	ExAC TOPMed gnomAD ClinGen
rs1286756631 CA394875817	1214	A>T		No	TOPMed ClinGen
CA7924737 rs753519927	1215	A>T		No	ClinGen ExAC gnomAD
rs756770012 CA7924738	1216	L>V		No	ExAC TOPMed gnomAD ClinGen
rs201585228 CA7924739	1218	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1227547610 CA394875906	1220	I>V		No	ClinGen gnomAD
rs780409689 CA7924743	1222	R>S		No	ExAC TOPMed gnomAD ClinGen
CA7924744 rs747307258	1224	S>R		No	ExAC gnomAD ClinGen
rs1469910945 CA394876015 COSM1376135	1226	S>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed ClinGen cosmic curated NCI-TCGA
rs375128145 CA394876087	1229	L>F		No	ESP TOPMed gnomAD ClinGen
rs890457982 CA278652099	1230	V>M		No	ClinGen Ensembl
rs1014932737 CA278652117	1232	L>V		No	Ensembl ClinGen
rs1398103636 CA394876150	1233	S>L		No	ClinGen gnomAD
rs528400418 CA7924746	1234	V>M		No	1000Genomes ExAC gnomAD ClinGen
rs1234827131 CA394876177	1235	S>Y		No	TOPMed gnomAD ClinGen
CA394876200 rs1471975440	1236	Y>F		No	ClinGen gnomAD
rs748378518 CA7924747	1239	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7924770 rs780192993	1242	T>M		No	ClinGen ExAC gnomAD
CA394876388 rs776439887	1243	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1399578227 CA394876385	1243	Y>C		No	ClinGen gnomAD
rs761388286 CA7924774	1247	L>V		No	ClinGen ExAC gnomAD
CA7924775 rs769369895	1248	V>G		No	ClinGen ExAC gnomAD
CA394876425 rs1364875540	1249	R>Q		No	TOPMed ClinGen
CA7924777 rs762507989	1254	M>I		No	ClinGen ExAC gnomAD
rs772846201 CA7924776	1254	M>V		No	ExAC gnomAD ClinGen
rs1345955415 CA394876479	1257	N>D		No	gnomAD ClinGen
rs756405833 CA7924784	1261	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7924783 rs756405833 COSM434716	1261	V>M	Variant assessed as Somatic; 0.0 impact. pancreas breast [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs868652045 CA278652972	1264	L>F		No	Ensembl ClinGen
rs201327769 CA7924787	1265	K>R		No	1000Genomes ExAC gnomAD ClinGen
rs1008650551 CA278652978	1266	E>*		No	Ensembl ClinGen
rs755488472 CA7924789	1267	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA394876613 rs1261184337 COSM1301660	1268	S>L	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs748043154 CA7924791	1270	T>A		No	ClinGen ExAC TOPMed
rs1356594885 CA394876655	1272	K>Q		No	TOPMed ClinGen
COSM373585 rs746483854 CA7924832	1274	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs1425639548 CA394877872	1276	W>R		No	TOPMed ClinGen
CA394877904 rs1209967114	1277	Q>K		No	TOPMed gnomAD ClinGen
CA278657946 rs965955331	1277	Q>R		No	ClinGen Ensembl
CA394877966 rs1396852143	1280	E>D		No	gnomAD ClinGen
rs774816195 CA7924836	1280	E>G		No	ExAC TOPMed gnomAD ClinGen
CA394877953 rs1235274291	1280	E>K		No	TOPMed gnomAD ClinGen
CA7924840 rs762327391	1282	A>G		No	ExAC TOPMed gnomAD ClinGen
rs769220253 CA7924838	1282	A>P		No	ExAC gnomAD ClinGen
CA7924839 rs769220253	1282	A>S		No	ExAC gnomAD ClinGen
CA394877992 rs1487612485	1283	P>A		No	TOPMed ClinGen
CA7924841 COSM181757 rs765498811	1283	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1284	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1286	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7924844 rs766502121	1286	S>T		No	ExAC gnomAD ClinGen
rs768118614 CA278657981	1288	P>S		No	ClinGen Ensembl
rs202073454 CA278657988	1289	Q>H		No	gnomAD ClinGen
CA7924845 rs374116688	1292	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7924846 rs368332539	1292	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1295	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201761081 CA7924850	1296	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7924849 rs200922662	1296	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA394878203 rs1189902833	1298	Y>C		No	gnomAD ClinGen
rs375787702 CA394878225	1299	C>W		No	ClinGen ESP TOPMed gnomAD
CA7924852 rs201533167	1301	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA278658051 COSM1678860 rs771293495	1301	R>H	ovary [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
rs373696385 CA7924853	1303	R>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs746585220 CA7924854	1303	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA7924856 rs781777283	1304	E>A		No	ExAC gnomAD ClinGen
CA394878282 rs781777283	1304	E>G		No	ClinGen ExAC gnomAD
rs768270195 CA7924855	1304	E>Q		No	ExAC TOPMed gnomAD ClinGen
rs748571484 CA7924857	1305	D>G		No	ClinGen ExAC TOPMed gnomAD
rs201117375 CA7924862	1308	F>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA394878339 rs759668292	1309	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7924863 rs759668292	1309	V>I		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	1310	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1229539166 CA394878378	1312	H>P		No	TOPMed ClinGen
CA7924866 TCGA novel rs369198761	1312	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD NCI-TCGA ClinGen
rs765097934 CA7924867	1313	I>V		No	ExAC gnomAD ClinGen
rs758209125 CA7924869	1314	N>D		No	ClinGen ExAC gnomAD
CA7924870 rs373999576	1314	N>S		No	ClinGen ESP ExAC gnomAD
CA7924871 rs751236070	1316	T>A		No	ExAC TOPMed gnomAD ClinGen
rs754576104 CA7924872	1316	T>M		No	ClinGen ExAC TOPMed gnomAD
rs754576104 CA7924873	1316	T>R		No	ExAC TOPMed gnomAD ClinGen
rs1348996779 CA394878442	1318	N>D		No	gnomAD ClinGen
rs897228018 CA394878447	1318	N>I		No	ClinGen TOPMed gnomAD
rs897228018 CA278658172	1318	N>S		No	ClinGen TOPMed gnomAD
rs1567440452 COSM265943 CA394878457	1319	G>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA394878462 rs1343930472	1320	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA394878475 rs1430723955	1321	E>G		No	ClinGen TOPMed gnomAD
rs1300362061 TCGA novel CA394878493	1322	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA TOPMed ClinGen
rs778200088 CA7924876	1322	K>R		No	ExAC gnomAD ClinGen
rs759266398	1323	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs747335425 CA7924911	1324	G>S		No	ExAC TOPMed gnomAD ClinGen
rs1364759840 CA394878595	1326	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA7924914 rs370672850	1328	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs763625231 CA7924913	1328	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1315453560 CA394878615	1329	T>M		No	ClinGen gnomAD
rs1353454252 CA394878647	1334	S>L		No	ClinGen gnomAD
rs1273748537 CA394878656	1335	S>C		No	gnomAD ClinGen
CA278660878 rs28364006	1337	T>A		No	ClinGen Ensembl
rs768651283 CA7924921	1337	T>N		No	ExAC gnomAD ClinGen
rs201020041 CA278660925	1342	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA278660926 rs902264623	1342	R>Q		No	TOPMed gnomAD ClinGen
rs201020041 COSM259276 CA7924924	1342	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA7924925 rs770925266	1344	N>D		No	ExAC gnomAD ClinGen
CA7924926 rs541436795	1344	N>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs924222774 CA278660933	1345	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA7924928 rs767317634	1346	S>F		No	ClinGen ExAC gnomAD
CA394879077 rs1187786498	1346	S>P		No	gnomAD ClinGen
rs1410226738 CA394879102	1348	E>G		No	gnomAD ClinGen
CA7924930 rs369139918	1348	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs753325781 CA394879127	1350	E>D		No	ExAC TOPMed gnomAD ClinGen
rs763529384 CA394879118	1350	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7924931 rs763529384	1350	E>Q		No	ExAC TOPMed gnomAD ClinGen
rs371450704 CA7924934	1351	I>M		No	1000Genomes ESP ExAC gnomAD ClinGen
TCGA novel	1353	I>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750907095 CA7924935	1353	I>V		No	ExAC TOPMed gnomAD ClinGen
CA394879163 rs1268530799	1354	D>N		No	ClinGen gnomAD
CA7924937 rs376594469	1356	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs376594469 CA278661053	1356	I>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs751753324 CA7924938	1357	N>D		No	ExAC gnomAD ClinGen
CA7924939 rs200768421	1357	N>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs748304306 CA7924941	1358	I>V		No	ClinGen ExAC gnomAD
CA7924943 rs779040246	1359	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA7924947 rs369726733	1361	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1361	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768426028 CA7924948	1362	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1404954680 CA394879286	1365	D>G		No	ClinGen gnomAD
COSM1733512 rs188980645 CA7924951	1365	D>N	pancreas [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
CA7924952 rs188980645	1365	D>Y		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7924954 rs763469968	1366	L>F		No	ClinGen ExAC gnomAD
rs545747943 CA278661156	1367	R>C		No	TOPMed gnomAD ClinGen
CA394879313 rs1316294670	1367	R>H		No	ClinGen TOPMed gnomAD
rs545747943 CA394879307	1367	R>S		No	ClinGen TOPMed gnomAD
CA7924957 rs755293600	1369	K>N		No	ExAC gnomAD ClinGen
rs751883360 CA7924956	1369	K>R		No	ClinGen ExAC gnomAD
TCGA novel	1370	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394879366 rs1346022967	1372	I>V		No	ClinGen gnomAD
CA394879388 rs1233995931	1373	I>M		No	gnomAD ClinGen
rs1306800361 CA394879571	1376	D>E		No	gnomAD ClinGen
rs555898731 CA7924987	1377	P>L		No	1000Genomes ExAC gnomAD ClinGen
CA7924988 rs769367775	1379	L>V		No	ClinGen ExAC gnomAD
rs574461562 CA7924989	1381	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
rs1479476888 CA394879696	1385	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA7924990 rs183032276	1385	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs770325253 CA7924991	1388	L>M		No	ExAC TOPMed gnomAD ClinGen
rs759917176 CA7924993	1390	P>L		No	ClinGen ExAC gnomAD
CA394879765 rs768012803	1391	F>I		No	ClinGen ExAC TOPMed gnomAD
rs768012803 CA7924994	1391	F>L		No	ExAC TOPMed gnomAD ClinGen
rs1200927675 CA394879781	1392	S>I		No	TOPMed ClinGen
rs1200927675 CA394879780	1392	S>N		No	TOPMed ClinGen
CA7924995 rs775937199	1395	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1165626329 CA394879822	1396	D>N		No	ClinGen gnomAD
CA394879830 rs1351815442	1396	D>V		No	gnomAD ClinGen
rs1176817207 CA394879864	1399	V>A		No	TOPMed ClinGen
CA7924997 rs764472664	1399	V>I		No	ExAC gnomAD ClinGen
rs1596560070 CA394879884	1401	T>A		No	ClinGen Ensembl
CA7924998 rs8057331	1401	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394879887 rs8057331	1401	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394879928 rs1228362569	1406	A>T		No	ClinGen gnomAD
rs1305385625 CA394879940	1407	H>Y		No	ClinGen gnomAD
CA394879984 rs1263382528	1411	F>L		No	ClinGen TOPMed
rs755888300 CA7925005	1412	V>M		No	ExAC gnomAD ClinGen
CA394880014 rs1208490534	1414	A>P		No	ClinGen gnomAD
rs777449962 CA7925006 COSM318436	1417	D>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7925008 rs770501723	1421	H>L		No	ClinGen ExAC gnomAD
CA394880095 rs770501723	1421	H>R		No	ClinGen ExAC gnomAD
CA7925007 rs775384378	1421	H>Y		No	ExAC gnomAD ClinGen
CA7925009 rs202167272	1423	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7925010 rs746397706	1424	A>T		No	ClinGen ExAC
CA394880153 rs1339331947	1426	G>R		No	ClinGen TOPMed gnomAD
rs1311484594 CA394880161	1427	G>R		No	gnomAD ClinGen
CA394880163 rs1311484594	1427	G>W		No	ClinGen gnomAD
rs776131130 CA394880174	1428	E>K		No	ClinGen ExAC gnomAD
rs776131130 CA7925012	1428	E>Q		No	ExAC gnomAD ClinGen
CA394880189 rs1449475172	1429	N>D		No	ClinGen gnomAD
CA394880190 rs1449475172	1429	N>Y		No	ClinGen gnomAD
CA278664735 rs1024618307	1432	V>L		No	TOPMed ClinGen
COSM1678861 rs1450045049 CA394880249	1433	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA394880266 rs1173607432	1434	Q>H		No	gnomAD ClinGen
COSM1243969 CA7925044 rs570053994	1435	R>C	oesophagus [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA394880274 rs1596562856	1435	R>L		No	ClinGen Ensembl
rs1400892057 CA394880311	1439	C>Y		No	gnomAD ClinGen
rs376534345 CA7925046	1442	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7925047 rs758013850	1442	R>Q		No	ExAC gnomAD ClinGen
CA7925045 rs376534345	1442	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1193312377 CA394880342	1443	A>S		No	gnomAD ClinGen
rs1406400463 CA394880360	1445	L>P		No	ClinGen gnomAD
rs1159256142 CA394880376	1447	K>N		No	ClinGen gnomAD
rs1017036433 CA278664772	1447	K>Q		No	Ensembl ClinGen
rs373526883 CA7925048	1448	T>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA278664783 rs898959321	1448	T>S		No	ClinGen Ensembl
rs370267216 CA278664819	1457	T>M		No	ClinGen ESP TOPMed gnomAD
rs748516564 CA394880493	1459	A>P		No	ExAC gnomAD ClinGen
rs748516564 CA394880492	1459	A>S		No	ClinGen ExAC gnomAD
rs748516564 CA7925052	1459	A>T		No	ExAC gnomAD ClinGen
CA7925055 rs749468738 COSM967542	1460	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA394880530 rs1331248085	1462	L>R		No	TOPMed gnomAD ClinGen
rs1290140863 CA394880525	1462	L>V		No	ClinGen gnomAD
TCGA novel	1463	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771021687 CA7925056	1464	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7925059 rs368326285	1466	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs776610751 CA7925060	1468	I>T		No	ExAC gnomAD ClinGen
rs1472472532 CA394880594	1469	Q>R		No	gnomAD ClinGen
CA7925064 rs199539300	1473	R>Q		No	ExAC gnomAD ClinGen
CA7925063 COSM1243968 rs371218567	1473	R>W	oesophagus [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs936150329 CA278669835	1477	E>D		No	ClinGen Ensembl
rs913994120 CA278669831	1477	E>K		No	TOPMed gnomAD ClinGen
rs1400062735 CA394881011	1478	D>V		No	ClinGen TOPMed
CA394881039 rs1567447971	1480	T>A		No	ClinGen Ensembl
CA394881059 rs1242654489	1481	V>D		No	gnomAD ClinGen
rs199815778 CA7925068	1481	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA394881070 rs1283735539	1482	L>F		No	ClinGen gnomAD
CA278669849 rs1051092287	1483	T>I		No	TOPMed ClinGen
rs1271166998 CA394881093	1484	I>V		No	ClinGen gnomAD
CA394881125 rs1485005686	1485	A>D		No	gnomAD ClinGen
CA394881120 rs375879039	1485	A>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs375879039 CA7925072	1485	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA394881135 rs1368609444	1486	H>N		No	ClinGen gnomAD
CA394881149 rs1479105930	1487	R>Q		No	TOPMed ClinGen
rs367956375 CA7925074	1487	R>W		No	ESP ExAC gnomAD ClinGen
CA394881156 rs1165734365	1488	L>I		No	gnomAD ClinGen
CA394881177 rs1430120260	1489	N>Y		No	gnomAD ClinGen
rs745991857 CA7925075	1492	M>V		No	ExAC gnomAD ClinGen
CA394881263 rs1334755363	1494	Y>H		No	ClinGen gnomAD
rs1198803874 CA394881275	1495	T>S		No	ClinGen TOPMed
CA394881741 rs1387912365	1499	V>I		No	ClinGen TOPMed gnomAD
CA7925100 rs200511471	1501	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773903464 CA7925101	1503	G>A		No	ExAC gnomAD ClinGen
CA278671243 rs961694225	1504	E>V		No	TOPMed ClinGen
CA394881814 COSM1181319 rs1280269418	1509	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs766946070 CA394881812	1509	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7925103 rs766946070	1509	G>S		No	ExAC TOPMed gnomAD ClinGen
CA7925105 rs764004869	1510	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1511	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_013323 CA7925107 rs369410659	1512	S>L		No	ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs564579734 CA7925110	1513	D>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA278671278 rs566054736	1513	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7925109 rs566054736	1513	D>N		No	ExAC TOPMed gnomAD ClinGen
CA394881852 rs1269284385	1516	Q>*		No	gnomAD ClinGen
rs587783374 CA7925112	1517	Q>H		No	ExAC TOPMed gnomAD ClinGen
CA394881874 rs1412649423	1519	G>A		No	ClinGen gnomAD
TCGA novel	1519	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768836070 CA7925114	1519	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7925113 rs768836070	1519	G>S		No	ExAC TOPMed gnomAD ClinGen
CA394881889 rs1472935608	1521	F>L		No	ClinGen gnomAD
CA7925115 rs749194148	1525	A>P		No	ExAC ClinGen
CA7925117 rs770868157	1525	A>V		No	ExAC gnomAD ClinGen
rs751348231 CA7925116	1526	K>H		No	ExAC ClinGen
rs377013600 CA7925119	1528	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377013600 CA7925120	1528	A>T	Variant assessed as Somatic; 4.678e-05 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs774991628 CA7925121	1528	A>V		No	ClinGen ExAC TOPMed gnomAD
COSM1723014 CA394881939 rs1408413758	1529	G>S	NS [Cosmic]	No	gnomAD ClinGen cosmic curated
TCGA novel	1529	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs905137271 CA278671331 CA394881952	1531	V>L		No	ClinGen TOPMed gnomAD
rs905137271 CA394881951	1531	V>M		No	TOPMed gnomAD ClinGen

No associated diseases with P33527

1 regional properties for P33527

Type	Name	Position	InterPro Accession
domain	Small GTP-binding protein domain	12 - 139	IPR005225

Functions

		Description
EC Number	7.6.2.2	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
basal plasma membrane	The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
lateral plasma membrane	The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

13 GO annotations of molecular function

Name	Definition
ABC-type glutathione S-conjugate transporter activity	Catalysis of the reaction: ATP + H2O + glutathione S-conjugate(in) -> ADP + phosphate + glutathione S-conjugate(out).
ABC-type transporter activity	Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane.
ABC-type vitamin B12 transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: vitamin B12(out) + ATP + H2O = ADP + an vitamin B12(in) + H+ + phosphate. Vitamin B12 is alkylcob(III)alamin.
ABC-type xenobiotic transporter activity	Catalysis of the reaction: ATP + H2O + xenobiotic(in) = ADP + phosphate + xenobiotic(out).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase-coupled inorganic anion transmembrane transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in).
ATPase-coupled lipid transmembrane transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + lipid(in) = ADP + phosphate + lipid(out).
ATPase-coupled transmembrane transporter activity	Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
carboxylic acid transmembrane transporter activity	Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-).
efflux transmembrane transporter activity	Enables the transfer of a specific substance or related group of substances from the inside of the cell to the outside of the cell across a membrane.
glutathione transmembrane transporter activity	Enables the transfer of glutathione, the tripeptide glutamylcysteinylglycine, from one side of a membrane to the other.
hydrolase activity	Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc.
xenobiotic transmembrane transporter activity	Enables the directed movement of a xenobiotic from one side of a membrane to the other. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

21 GO annotations of biological process

Name	Definition
carboxylic acid transmembrane transport	The process in which carboxylic acid is transported across a membrane.
cell chemotaxis	The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
cellular response to amyloid-beta	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a amyloid-beta stimulus.
cellular response to oxidative stress	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
cobalamin metabolic process	The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.
cobalamin transport	The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
export across plasma membrane	The directed movement of some substance from inside of a cell, across the plasma membrane and into the extracellular region.
glutathione transmembrane transport	A process in which glutathione is transported across a membrane.
heme catabolic process	The chemical reactions and pathways resulting in the breakdown of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring.
leukotriene metabolic process	The chemical reactions and pathways involving leukotriene, a pharmacologically active substance derived from a polyunsaturated fatty acid, such as arachidonic acid.
leukotriene transport	The directed movement of leukotrienes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Leukotrienes are linear C20 endogenous metabolites of arachidonic acid (icosa-5,8,11,14-tetraenoic acid) containing a terminal carboxy function and four or more double bonds (three or more of which are conjugated) as well as other functional groups.
phospholipid translocation	The movement of a phospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.
positive regulation of inflammatory response	Any process that activates or increases the frequency, rate or extent of the inflammatory response.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
sphingolipid translocation	The movement of a sphingolipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.
transepithelial transport	The directed movement of a substance from one side of an epithelium to the other.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.
transport across blood-brain barrier	The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier.
xenobiotic metabolic process	The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
xenobiotic transport	The directed movement of a xenobiotic into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
xenobiotic transport across blood-brain barrier	The directed movement of a xenobiotic through the blood-brain barrier.

26 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P14772	BPT1	Bile pigment transporter 1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8HXQ5	ABCC1	Multidrug resistance-associated protein 1	Bos taurus (Bovine)	PR
Q2QLE5	CFTR	Cystic fibrosis transmembrane conductance regulator	Pan troglodytes (Chimpanzee)	PR
Q6UR05	ABCC1	Multidrug resistance-associated protein 1	Canis lupus familiaris (Dog) (Canis familiaris)	PR
P91660	Rh5	Probable multidrug resistance-associated protein lethal(2)03659	Drosophila melanogaster (Fruit fly)	PR
O15438	ABCC3	ATP-binding cassette sub-family C member 3	Homo sapiens (Human)	PR
O95255	ABCC6	ATP-binding cassette sub-family C member 6	Homo sapiens (Human)	PR
Q92887	ABCC2	ATP-binding cassette sub-family C member 2	Homo sapiens (Human)	SS
Q96J66	ABCC11	ATP-binding cassette sub-family C member 11	Homo sapiens (Human)	PR
P13569	CFTR	Cystic fibrosis transmembrane conductance regulator	Homo sapiens (Human)	PR
O15439	ABCC4	ATP-binding cassette sub-family C member 4	Homo sapiens (Human)	PR
B2RX12	Abcc3	ATP-binding cassette sub-family C member 3	Mus musculus (Mouse)	PR
P26361	Cftr	Cystic fibrosis transmembrane conductance regulator	Mus musculus (Mouse)	PR
Q80WJ6	Abcc12	ATP-binding cassette sub-family C member 12	Mus musculus (Mouse)	PR
Q8VI47	Abcc2	ATP-binding cassette sub-family C member 2	Mus musculus (Mouse)	SS
O35379	Abcc1	Multidrug resistance-associated protein 1	Mus musculus (Mouse)	PR
Q6PQZ2	CFTR	Cystic fibrosis transmembrane conductance regulator	Sus scrofa (Pig)	PR
Q6Y306	Abcc12	ATP-binding cassette sub-family C member 12	Rattus norvegicus (Rat)	PR
Q63120	Abcc2	ATP-binding cassette sub-family C member 2	Rattus norvegicus (Rat)	EV
Q8CG09	Abcc1	Multidrug resistance-associated protein 1	Rattus norvegicus (Rat)	PR
Q00553	CFTR	Cystic fibrosis transmembrane conductance regulator	Macaca mulatta (Rhesus macaque)	PR
Q9SKX0	ABCC13	ABC transporter C family member 13	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8VZZ4	ABCC6	ABC transporter C family member 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M1C7	ABCC9	ABC transporter C family member 9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C8G9	ABCC1	ABC transporter C family member 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C8H0	ABCC12	ABC transporter C family member 12	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MALRGFCSAD	GSDPLWDWNV	TWNTSNPDFT	KCFQNTVLVW	VPCFYLWACF	PFYFLYLSRH
70	80	90	100	110	120
DRGYIQMTPL	NKTKTALGFL	LWIVCWADLF	YSFWERSRGI	FLAPVFLVSP	TLLGITMLLA
130	140	150	160	170	180
TFLIQLERRK	GVQSSGIMLT	FWLVALVCAL	AILRSKIMTA	LKEDAQVDLF	RDITFYVYFS
190	200	210	220	230	240
LLLIQLVLSC	FSDRSPLFSE	TIHDPNPCPE	SSASFLSRIT	FWWITGLIVR	GYRQPLEGSD
250	260	270	280	290	300
LWSLNKEDTS	EQVVPVLVKN	WKKECAKTRK	QPVKVVYSSK	DPAQPKESSK	VDANEEVEAL
310	320	330	340	350	360
IVKSPQKEWN	PSLFKVLYKT	FGPYFLMSFF	FKAIHDLMMF	SGPQILKLLI	KFVNDTKAPD
370	380	390	400	410	420
WQGYFYTVLL	FVTACLQTLV	LHQYFHICFV	SGMRIKTAVI	GAVYRKALVI	TNSARKSSTV
430	440	450	460	470	480
GEIVNLMSVD	AQRFMDLATY	INMIWSAPLQ	VILALYLLWL	NLGPSVLAGV	AVMVLMVPVN
490	500	510	520	530	540
AVMAMKTKTY	QVAHMKSKDN	RIKLMNEILN	GIKVLKLYAW	ELAFKDKVLA	IRQEELKVLK
550	560	570	580	590	600
KSAYLSAVGT	FTWVCTPFLV	ALCTFAVYVT	IDENNILDAQ	TAFVSLALFN	ILRFPLNILP
610	620	630	640	650	660
MVISSIVQAS	VSLKRLRIFL	SHEELEPDSI	ERRPVKDGGG	TNSITVRNAT	FTWARSDPPT
670	680	690	700	710	720
LNGITFSIPE	GALVAVVGQV	GCGKSSLLSA	LLAEMDKVEG	HVAIKGSVAY	VPQQAWIQND
730	740	750	760	770	780
SLRENILFGC	QLEEPYYRSV	IQACALLPDL	EILPSGDRTE	IGEKGVNLSG	GQKQRVSLAR
790	800	810	820	830	840
AVYSNADIYL	FDDPLSAVDA	HVGKHIFENV	IGPKGMLKNK	TRILVTHSMS	YLPQVDVIIV
850	860	870	880	890	900
MSGGKISEMG	SYQELLARDG	AFAEFLRTYA	STEQEQDAEE	NGVTGVSGPG	KEAKQMENGM
910	920	930	940	950	960
LVTDSAGKQL	QRQLSSSSSY	SGDISRHHNS	TAELQKAEAK	KEETWKLMEA	DKAQTGQVKL
970	980	990	1000	1010	1020
SVYWDYMKAI	GLFISFLSIF	LFMCNHVSAL	ASNYWLSLWT	DDPIVNGTQE	HTKVRLSVYG
1030	1040	1050	1060	1070	1080
ALGISQGIAV	FGYSMAVSIG	GILASRCLHV	DLLHSILRSP	MSFFERTPSG	NLVNRFSKEL
1090	1100	1110	1120	1130	1140
DTVDSMIPEV	IKMFMGSLFN	VIGACIVILL	ATPIAAIIIP	PLGLIYFFVQ	RFYVASSRQL
1150	1160	1170	1180	1190	1200
KRLESVSRSP	VYSHFNETLL	GVSVIRAFEE	QERFIHQSDL	KVDENQKAYY	PSIVANRWLA
1210	1220	1230	1240	1250	1260
VRLECVGNCI	VLFAALFAVI	SRHSLSAGLV	GLSVSYSLQV	TTYLNWLVRM	SSEMETNIVA
1270	1280	1290	1300	1310	1320
VERLKEYSET	EKEAPWQIQE	TAPPSSWPQV	GRVEFRNYCL	RYREDLDFVL	RHINVTINGG
1330	1340	1350	1360	1370	1380
EKVGIVGRTG	AGKSSLTLGL	FRINESAEGE	IIIDGINIAK	IGLHDLRFKI	TIIPQDPVLF
1390	1400	1410	1420	1430	1440
SGSLRMNLDP	FSQYSDEEVW	TSLELAHLKD	FVSALPDKLD	HECAEGGENL	SVGQRQLVCL
1450	1460	1470	1480	1490	1500
ARALLRKTKI	LVLDEATAAV	DLETDDLIQS	TIRTQFEDCT	VLTIAHRLNT	IMDYTRVIVL
1510	1520	1530
DKGEIQEYGA	PSDLLQQRGL	FYSMAKDAGL	V