AiPD: Autoinhibited Protein Database

Q5VW36

Gene name	FOCAD (KIAA1797)
Protein name	Focadhesin
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54914
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

928-1003 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

928-1003 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q5VW36

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5VW36-F1	Predicted				AlphaFoldDB

1859 variants for Q5VW36

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_087617	154	Q>del	SCOLIV [UniProt]	Yes	UniProt
VAR_087618	195	R>del	SCOLIV [UniProt]	Yes	UniProt
CA5006824 VAR_087619 rs772850384	563	R>C	SCOLIV; unknown pathological significance; when associated with P-1232 [UniProt]	Yes	ClinGen ExAC gnomAD UniProt
VAR_087620	863	R>del	SCOLIV [UniProt]	Yes	UniProt
VAR_087621 CA5007585 rs200704189	1177	G>R	SCOLIV; unknown pathological significance [UniProt]	Yes	ClinGen ESP ExAC TOPMed gnomAD UniProt
VAR_087622	1232	A>P	SCOLIV; unknown pathological significance; when associated with C-563 [UniProt]	Yes	UniProt
rs1481004397 VAR_087623 CA373056419	1668	K>N	SCOLIV; unknown pathological significance [UniProt]	Yes	ClinGen TOPMed UniProt
VAR_087624	1780	L>P	SCOLIV; unknown pathological significance [UniProt]	Yes	UniProt
CA190540057 rs979453064	4	D>G		No	ClinGen Ensembl
rs757339586 CA5006146	4	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5006145 rs757339586	4	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA5006147 rs750616734	5	I>T		No	ClinGen ExAC gnomAD
rs1017966058 CA190540061	5	I>V		No	ClinGen TOPMed gnomAD
TCGA novel CA5006148 rs756272505	8	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed NCI-TCGA
CA190540070 rs964721654	10	E>Q		No	ClinGen TOPMed gnomAD
rs1373857132 CA373041589	11	F>L		No	ClinGen TOPMed
CA190540075 rs373704473	14	S>C		No	ClinGen Ensembl
CA373041743 rs1188214564	16	I>T		No	ClinGen gnomAD
CA5006150 rs201120976	17	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1291999047 CA373041859	19	Q>R		No	ClinGen gnomAD
rs1314305915 CA373043463	20	A>G		No	ClinGen gnomAD
rs752843013 CA5006209	21	V>L		No	ClinGen ExAC TOPMed gnomAD
rs763980249 COSM608517 CA5006211	23	H>Y	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA373043533 rs1225957773	25	I>T		No	ClinGen gnomAD
rs74534505 CA190541082	27	A>S		No	ClinGen Ensembl
rs780873832 CA5006214	27	A>V		No	ClinGen ExAC gnomAD
rs1259830427 CA373043564	30	K>N		No	ClinGen gnomAD
COSM1461715 rs1486126655 CA373043572	31	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs779812945 CA5006217	35	S>P		No	ClinGen ExAC gnomAD
TCGA novel	36	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5006218 rs748888386	36	E>Q		No	ClinGen ExAC gnomAD
rs1051783615 CA190541097 COSM753798	36	E>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA373043630 rs1407227991 COSM487308	40	Q>K	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1243870867 CA373043635	40	Q>P		No	ClinGen TOPMed gnomAD
rs772489765 CA5006220	41	S>Y		No	ClinGen ExAC gnomAD
rs778049918 CA5006221	42	T>A		No	ClinGen ExAC gnomAD
CA373043652 rs1310752428	43	N>S		No	ClinGen gnomAD
rs1196386920 CA373044540	46	P>L		No	ClinGen gnomAD
CA5006243 rs746360161	46	P>S		No	ClinGen ExAC gnomAD
rs746360161 CA5006242	46	P>T		No	ClinGen ExAC gnomAD
CA5006245 rs749548923	49	N>D		No	ClinGen ExAC TOPMed gnomAD
CA5006246 rs768960702	49	N>S		No	ClinGen ExAC gnomAD
CA5006248 rs761756799	51	L>V		No	ClinGen ExAC gnomAD
rs552639818 CA5006251	53	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773204578 CA5006250	53	E>G		No	ClinGen ExAC gnomAD
CA373044598 rs146665480	55	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146665480 CA5006252	55	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA190542012 rs891887980	56	C>*		No	ClinGen TOPMed gnomAD
CA5006253 rs370646236	57	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006254 rs754449847	58	D>N		No	ClinGen ExAC TOPMed gnomAD
CA373044619 rs1349836859	58	D>V		No	ClinGen gnomAD
CA5006255 rs764916026	59	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5006256 rs772629909	60	V>G		No	ClinGen ExAC TOPMed gnomAD
CA373044635 rs1563912253	61	V>L		No	ClinGen Ensembl
CA5006258 rs781347830	63	R>*		No	ClinGen ExAC gnomAD
rs143009945 CA190542029	63	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006259 rs143009945	63	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5006260 rs756529472	64	T>A		No	ClinGen ExAC gnomAD
rs780214802 CA5006261	64	T>R		No	ClinGen ExAC gnomAD
CA373044671 rs1207788018	67	C>F		No	ClinGen TOPMed gnomAD
rs1467983088 CA373044667	67	C>R		No	ClinGen gnomAD
rs1207788018 CA373044670	67	C>S		No	ClinGen TOPMed gnomAD
TCGA novel	70	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs889767849 CA190542042	70	L>V		No	ClinGen Ensembl
CA373044695 rs1191988365	71	V>A		No	ClinGen gnomAD
rs774779636 CA5006264	71	V>L		No	ClinGen ExAC gnomAD
rs1387037028 CA373044697	72	A>T		No	ClinGen TOPMed
TCGA novel	74	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772834225 CA5006267	75	A>G		No	ClinGen ExAC gnomAD
rs1457853851 CA373044721	76	Q>E		No	ClinGen gnomAD
CA373044737 rs901713895	78	H>D		No	ClinGen TOPMed gnomAD
CA373044740 rs1387588374	78	H>L		No	ClinGen gnomAD
CA190542055 rs901713895	78	H>Y		No	ClinGen TOPMed gnomAD
rs760688973 CA5006268	79	A>T		No	ClinGen ExAC gnomAD
CA373044750 rs1297796535	80	E>*		No	ClinGen TOPMed gnomAD
rs766264074 CA5006269	80	E>D		No	ClinGen ExAC gnomAD
rs776606623 CA5006270	83	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5006272 rs371982123	86	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs371982123 CA190542067	86	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA373044796 rs1269880344	87	G>R		No	ClinGen TOPMed
rs752355389 CA5006273	88	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1255686412 CA373044807	88	I>M		No	ClinGen TOPMed
rs1362489563 CA373044805	88	I>T		No	ClinGen gnomAD
rs757992816 CA373044818	90	N>I		No	ClinGen ExAC TOPMed gnomAD
rs757992816 CA5006274	90	N>T		No	ClinGen ExAC TOPMed gnomAD
CA5006276 rs149661262	93	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs375115339 CA5006277	94	S>L		No	ClinGen ESP ExAC gnomAD
rs538350836 CA190542081	94	S>P		No	ClinGen Ensembl
CA190542090 rs950514356	96	R>G		No	ClinGen Ensembl
CA5006299 rs763695960	98	T>R		No	ClinGen ExAC gnomAD
rs1321367440 CA373047576	99	H>Q		No	ClinGen gnomAD
CA373047581 rs1378850422	100	G>A		No	ClinGen gnomAD
CA5006300 rs751204093	100	G>S		No	ClinGen ExAC gnomAD
CA373047596 rs1474809658	102	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	103	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1245631784 CA373047598	103	K>E		No	ClinGen TOPMed
CA5006301 rs761004433	104	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1437013330 CA373047605	104	A>T		No	ClinGen gnomAD
rs761004433 CA373047609	104	A>V		No	ClinGen ExAC TOPMed gnomAD
rs754408343 CA5006303	105	I>V		No	ClinGen ExAC gnomAD
rs144428211 CA5006304	106	M>T		No	ClinGen ESP ExAC gnomAD
CA373047629 rs1445934162	107	H>Q		No	ClinGen gnomAD
CA5006305 rs148407192	107	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5006307 rs142542466	109	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1234814041 CA373047642	110	Q>E		No	ClinGen TOPMed gnomAD
rs1281022926 CA373047648	110	Q>H		No	ClinGen TOPMed
rs1234814041 CA373047644	110	Q>K		No	ClinGen TOPMed gnomAD
CA373047660 rs1220014204	112	Q>*		No	ClinGen TOPMed
rs1255527027 CA373047672	113	A>V		No	ClinGen gnomAD
CA373047694 COSM257229 rs1277415025	116	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	116	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369102033 CA5006310	119	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA373047717 rs1295490905	120	G>A		No	ClinGen TOPMed
rs1198537247 CA373047714	120	G>R		No	ClinGen gnomAD
TCGA novel	121	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA190549737 rs371177017	122	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006311 rs371177017	122	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs139972395 CA5006312	124	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373907768 CA5006313	125	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006314 rs149760366 COSM1461721	126	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1176384293 CA373047757	126	S>N		No	ClinGen TOPMed
rs1409003772 CA373047773	128	Y>C		No	ClinGen TOPMed
TCGA novel	129	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5006315 rs376862300	129	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs376862300 CA190549745	129	T>S		No	ClinGen ESP ExAC gnomAD
CA373047783 rs1355178484	130	I>F		No	ClinGen gnomAD
rs535871475 CA5006316	130	I>S		No	ClinGen 1000Genomes ExAC gnomAD
rs535871475 CA373047785	130	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5006317 rs768201162	131	R>*		No	ClinGen ExAC gnomAD
CA5006318 rs773877063	131	R>K		No	ClinGen ExAC gnomAD
rs747783987 CA5006342	132	N>Y		No	ClinGen ExAC gnomAD
CA5006343 rs771886193	133	H>N		No	ClinGen ExAC TOPMed gnomAD
CA190558423 rs771886193	133	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	134	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143814736 CA5006344	134	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1488087791 CA373048830	134	P>S		No	ClinGen gnomAD
rs1473191064 CA373048837	135	H>R		No	ClinGen gnomAD
rs1259700147 CA373048836	135	H>Y		No	ClinGen gnomAD
rs760035336 CA373048844	136	P>H		No	ClinGen ExAC gnomAD
CA5006345 rs760035336	136	P>R		No	ClinGen ExAC gnomAD
CA190558431 rs868475374	136	P>S		No	ClinGen Ensembl
rs1469402799 CA373048854	138	I>V		No	ClinGen TOPMed
rs535879264 CA373048863	139	T>N		No	ClinGen Ensembl
rs535879264 CA190558443	139	T>S		No	ClinGen Ensembl
rs1411565619 CA373048867	140	V>L		No	ClinGen gnomAD
rs1563952692 CA373048882	142	E>D		No	ClinGen Ensembl
rs199773082 CA190558459	142	E>Q		No	ClinGen TOPMed gnomAD
CA5006347 rs182097825	142	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1304780355 CA373048884	143	H>D		No	ClinGen gnomAD
CA5006348 rs150958321	143	H>P		No	ClinGen ESP ExAC
rs1006621954 CA190558478	144	R>*		No	ClinGen TOPMed
rs1018135026 CA190558479	146	D>G		No	ClinGen TOPMed gnomAD
rs1314398678 CA373048902	146	D>N		No	ClinGen gnomAD
CA373048906 rs1018135026	146	D>V		No	ClinGen TOPMed gnomAD
rs764105305 CA5006349	148	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1190833740 CA373048927	149	P>S		No	ClinGen TOPMed
rs751619473 CA5006350	150	V>A		No	ClinGen ExAC TOPMed gnomAD
rs751619473 CA373048934	150	V>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	152	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5006351 rs757256815	153	Q>*		No	ClinGen ExAC gnomAD
rs1225763238 CA373048959	154	Q>*		No	ClinGen gnomAD
rs376491649 CA5006352	154	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs144453858 CA5006357	157	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006354 rs755972163	157	A>P		No	ClinGen ExAC gnomAD
CA5006355 rs755972163	157	A>T		No	ClinGen ExAC gnomAD
rs144453858 CA5006356	157	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA373048990 rs1186975229	159	F>S		No	ClinGen gnomAD
CA5006359 rs747742409	160	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1235603977 CA373048994	160	Q>K		No	ClinGen gnomAD
rs147845879 CA190558509	162	C>*		No	ClinGen ESP
CA5006361 rs773064467	163	P>R		No	ClinGen ExAC gnomAD
rs141466501 CA5006360	163	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006362 rs376024522	164	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1367942031 CA373049021	164	E>Q		No	ClinGen TOPMed
rs770297844 CA5006363	165	R>T		No	ClinGen ExAC gnomAD
rs10511687 CA373049046	166	L>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5006387 RCV001653792 RCV000455620 VAR_037877 rs10511687	166	L>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772158546 CA5006388	169	S>A		No	ClinGen ExAC TOPMed gnomAD
CA5006389 rs773233345	170	C>Y		No	ClinGen ExAC gnomAD
CA373049084 rs1389120440	172	Q>*		No	ClinGen gnomAD
rs1025162213 CA190562707 CA373049088	172	Q>H		No	ClinGen TOPMed
rs779608573 CA190562713	173	I>T		No	ClinGen Ensembl
CA373049090 rs1196282194	173	I>V		No	ClinGen gnomAD
rs766669450 CA5006391	174	M>I		No	ClinGen ExAC gnomAD
CA5006390 rs760710917	174	M>T		No	ClinGen ExAC TOPMed gnomAD
CA373049102 rs531535960	175	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373049103 rs531535960	175	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5006392 rs531535960	175	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759440832 CA5006394	176	P>R		No	ClinGen ExAC gnomAD
rs977903874 CA190562755	177	F>C		No	ClinGen TOPMed
CA5006395 rs764872131	177	F>L		No	ClinGen ExAC gnomAD
CA5006396 rs752693263	179	W>R		No	ClinGen ExAC gnomAD
CA190562760 rs957948486	182	Y>C		No	ClinGen TOPMed
rs1048595513 CA190562773	185	P>L		No	ClinGen TOPMed
CA5006400 rs756700547	186	S>F		No	ClinGen ExAC gnomAD
CA373049173 rs1374192588	186	S>P		No	ClinGen TOPMed
CA373049182 rs1277660970	187	Q>L		No	ClinGen gnomAD
rs1235054597 CA373049193	189	Q>*		No	ClinGen gnomAD
rs745506243 CA5006402	189	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs769073717 CA5006403	191	Y>C		No	ClinGen ExAC gnomAD
rs779092493 CA5006404	192	A>G		No	ClinGen ExAC gnomAD
CA5006405 rs748683454	193	K>E		No	ClinGen ExAC gnomAD
rs1259857366 CA373049221	193	K>T		No	ClinGen TOPMed
COSM1107716 CA5006407 rs200873740	195	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs747145835 CA373049234	195	R>L		No	ClinGen ExAC TOPMed gnomAD
rs747145835 CA373049233	195	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747145835 CA5006408	195	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs536812144 CA190562808	196	L>P		No	ClinGen Ensembl
rs770911786 CA5006409	196	L>V		No	ClinGen ExAC TOPMed gnomAD
rs759618724 CA5006412	198	L>V		No	ClinGen ExAC gnomAD
CA373049250 rs1216208740	199	L>Q		No	ClinGen TOPMed
CA5006413 rs143683524	200	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006414 rs762811992	200	K>R		No	ClinGen ExAC gnomAD
rs764176452 CA5006415	203	L>F		No	ClinGen ExAC gnomAD
rs764176452 CA5006416	203	L>I		No	ClinGen ExAC gnomAD
rs985521634 CA190562857	203	L>R		No	ClinGen Ensembl
rs1297890739 CA373049278	204	Q>P		No	ClinGen gnomAD
CA190562863 rs912644058	205	P>T		No	ClinGen TOPMed gnomAD
rs766874477 CA5006418	206	Q>H		No	ClinGen ExAC gnomAD
rs1339811923 CA373049292	206	Q>R		No	ClinGen gnomAD
CA190562873 rs369821901	208	L>F		No	ClinGen ESP TOPMed
CA373049317 rs1262261221	210	D>A		No	ClinGen gnomAD
rs750105844 CA5006419	210	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5006420 rs755680035	211	K>T		No	ClinGen ExAC gnomAD
CA5006422 rs748556974	212	D>G		No	ClinGen ExAC TOPMed gnomAD
CA190562887 rs748556974	212	D>V		No	ClinGen ExAC TOPMed gnomAD
rs779646531 CA5006421	212	D>Y		No	ClinGen ExAC gnomAD
rs1587073225 CA373049339	213	Q>H		No	ClinGen Ensembl
rs758744690 CA5006423	215	S>L		No	ClinGen ExAC gnomAD
rs778319307 CA5006424	217	L>M		No	ClinGen ExAC TOPMed gnomAD
CA373049364 rs747448535	218	E>*		No	ClinGen ExAC TOPMed gnomAD
CA5006425 rs747448535	218	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs771055520 CA5006426	219	Q>R		No	ClinGen ExAC gnomAD
CA373049388 rs1327239040	221	I>K		No	ClinGen TOPMed
CA373049385 rs1159186141	221	I>L		No	ClinGen Ensembl
CA373049389 rs1327239040	221	I>T		No	ClinGen TOPMed
rs1467590287 CA373049403	223	Q>P		No	ClinGen gnomAD
CA373049409 rs1364694278	224	L>P		No	ClinGen TOPMed gnomAD
rs775833167 CA5006430	225	C>Y		No	ClinGen ExAC gnomAD
rs762899573 CA5006431	226	C>Y		No	ClinGen ExAC gnomAD
rs1377338611 CA373049427	227	D>H		No	ClinGen gnomAD
CA373049436 rs1313591448	228	I>T		No	ClinGen gnomAD
rs774438475 CA5006433	228	I>V		No	ClinGen ExAC gnomAD
CA373049446 rs1210134402	230	P>A		No	ClinGen gnomAD
CA373049456 rs1482026463	231	C>Y		No	ClinGen gnomAD
CA373049471 rs1472400343	233	Q>R		No	ClinGen TOPMed
rs10441706 RCV000887961 VAR_037878 CA5006460	234	V>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5006461 rs757622242	236	D>E		No	ClinGen ExAC gnomAD
CA190552075 rs1029750963	236	D>Y		No	ClinGen TOPMed
CA5006462 rs781607422	237	L>V		No	ClinGen ExAC TOPMed gnomAD
CA373037276 rs1318618771	238	I>T		No	ClinGen TOPMed gnomAD
CA373037283 rs1323835003	239	Q>E		No	ClinGen gnomAD
rs141572748 CA5006463	240	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141572748 CA5006464	240	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373037310 rs1222818120	240	T>S		No	ClinGen gnomAD
CA5006466 rs549463779	242	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1453489777 CA373038265	243	A>S		No	ClinGen TOPMed gnomAD
rs141558162 CA5006467	243	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747948304 CA5006469	244	M>V		No	ClinGen ExAC TOPMed gnomAD
CA373038320 rs1415903302	246	F>I		No	ClinGen gnomAD
CA373038380 rs1563968832	249	E>V		No	ClinGen Ensembl
rs760602881 CA5006472	250	V>L		No	ClinGen ExAC gnomAD
rs776076815 CA5006474	251	C>R		No	ClinGen ExAC TOPMed gnomAD
CA5006475 rs199678370	253	S>N		No	ClinGen ExAC TOPMed gnomAD
rs777207561 CA5006477	253	S>R		No	ClinGen ExAC gnomAD
rs762151102 CA5006478	256	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762151102 CA373038422	256	R>G		No	ClinGen ExAC TOPMed gnomAD
rs753793211 CA5006479	256	R>H		No	ClinGen ExAC TOPMed gnomAD
rs753793211 CA373038423	256	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753793211 CA190552158	256	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1346482371 CA373038425	257	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5006481 rs183007490	258	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537981944 CA5006482	259	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs201808793 CA5006483	261	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5006484 rs755093785	262	K>T		No	ClinGen ExAC gnomAD
rs1213773824 CA373038467	263	I>V		No	ClinGen gnomAD
rs779066231 CA5006485	264	Q>H		No	ClinGen ExAC gnomAD
rs1181278087 CA373038496	267	Q>P		No	ClinGen gnomAD
TCGA novel	267	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1383121760 CA373038503	268	M>T		No	ClinGen gnomAD
rs1563968981 CA373038500	268	M>V		No	ClinGen Ensembl
CA5006487 rs758140968	269	S>G		No	ClinGen ExAC gnomAD
rs777575367 CA5006488	269	S>R		No	ClinGen ExAC TOPMed gnomAD
rs746978235 CA5006489	271	Q>*		No	ClinGen ExAC gnomAD
rs1417250893 CA373038542	271	Q>L		No	ClinGen TOPMed gnomAD
rs1417250893 CA373038544	271	Q>R		No	ClinGen TOPMed gnomAD
rs1346268195 CA373038550	272	L>R		No	ClinGen TOPMed
CA373038565 rs1335633558	274	C>R		No	ClinGen gnomAD
rs1359290615 CA373038584	276	S>G		No	ClinGen gnomAD
CA373038590 rs1449386411	276	S>I		No	ClinGen TOPMed gnomAD
CA190552212 rs966417554	281	K>N		No	ClinGen TOPMed gnomAD
rs770893289 CA5006491	282	I>V		No	ClinGen ExAC gnomAD
CA5006492 rs776529704	283	T>I		No	ClinGen ExAC gnomAD
CA373038699 rs1353264423	284	G>D		No	ClinGen gnomAD
CA5006495 rs775010386	285	E>G		No	ClinGen ExAC gnomAD
rs1280822423 CA373038709	285	E>K		No	ClinGen gnomAD
rs762612023 CA373038742	286	C>F		No	ClinGen ExAC gnomAD
CA5006496 rs762612023	286	C>Y		No	ClinGen ExAC gnomAD
rs1241224880 CA373038757	287	S>A		No	ClinGen gnomAD
CA5006497 rs767798738	287	S>L		No	ClinGen ExAC gnomAD
rs761092805 CA373038818	290	I>L		No	ClinGen ExAC gnomAD
CA5006499 rs761092805	290	I>V		No	ClinGen ExAC gnomAD
rs1587095873 CA373038884	291	H>Q		No	ClinGen Ensembl
CA5006500 rs767047526	291	H>R		No	ClinGen ExAC gnomAD
CA373038889 rs1188002403	292	L>V		No	ClinGen TOPMed
CA5006501 CA373038951 rs754389950	294	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	295	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5006502 rs755110114	295	H>Y		No	ClinGen ExAC gnomAD
rs752884080 CA5006504	296	S>G		No	ClinGen ExAC
rs758606639 CA5006505	296	S>N		No	ClinGen ExAC gnomAD
TCGA novel	297	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1332444170 CA373039098	299	L>V		No	ClinGen gnomAD
rs1376716003 CA373039110	300	L>V		No	ClinGen gnomAD
rs1185317397 CA373039145	302	E>G		No	ClinGen TOPMed
rs200516182 CA5006508	302	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1424253130 CA373042223	304	F>L		No	ClinGen gnomAD
TCGA novel	305	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA190557765 rs958739496	306	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	307	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1324620822 CA373042313	309	V>F		No	ClinGen gnomAD
rs761976043 CA5006545	309	V>G		No	ClinGen ExAC TOPMed gnomAD
CA373042366 rs1284555749	310	I>M		No	ClinGen TOPMed gnomAD
CA5006546 rs767334883	311	I>T		No	ClinGen ExAC TOPMed gnomAD
CA373042401 rs1219772218	312	G>*		No	ClinGen TOPMed gnomAD
CA5006547 rs750263830	312	G>E		No	ClinGen ExAC
rs1219772218 CA373042395	312	G>R		No	ClinGen TOPMed gnomAD
CA190557787 rs368968838	313	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006549 rs368968838	313	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755844489 CA5006548	313	I>V		No	ClinGen ExAC gnomAD
CA373042445 rs1197207097	314	A>G		No	ClinGen TOPMed
CA5006550 rs753647799	315	L>V		No	ClinGen ExAC gnomAD
rs778515085 CA5006552	316	L>P		No	ClinGen ExAC gnomAD
rs771889913 CA5006554	317	L>F		No	ClinGen ExAC gnomAD
CA5006557 rs562185967	318	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs562185967 CA5006558	318	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA5006559 rs763312970	320	T>I		No	ClinGen ExAC TOPMed gnomAD
rs770717413 CA190557848	321	P>L		No	ClinGen gnomAD
CA5006560 rs768746638	322	A>T		No	ClinGen ExAC gnomAD
rs761853383 CA5006562	325	Q>H		No	ClinGen ExAC gnomAD
rs774378057 CA5006561	325	Q>K		No	ClinGen ExAC gnomAD
CA190557873 rs759755134	326	K>M		No	ClinGen Ensembl
rs767780488 CA373042872 CA5006563	326	K>N		No	ClinGen ExAC TOPMed gnomAD
CA190557880 rs917939933	327	P>S		No	ClinGen Ensembl
CA5006564 rs750600389	328	I>F		No	ClinGen ExAC gnomAD
rs750600389 CA373042913	328	I>V		No	ClinGen ExAC gnomAD
rs1248721588 CA373043714	334	K>T		No	ClinGen gnomAD
rs752676826 CA5006587	335	L>I		No	ClinGen ExAC TOPMed gnomAD
rs757987302 CA5006588	336	L>I		No	ClinGen ExAC gnomAD
rs138987581 CA373043781	340	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs138987581 CA5006590	340	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA373043791 rs1185375573	341	D>H		No	ClinGen TOPMed
CA190559604 rs976817933	341	D>V		No	ClinGen TOPMed gnomAD
rs1185375573 CA373043799	341	D>Y		No	ClinGen TOPMed
CA373043812 rs1400736217	342	Q>*		No	ClinGen gnomAD
TCGA novel	342	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5006591 rs756821211	343	K>E		No	ClinGen ExAC TOPMed gnomAD
CA373043821 rs756821211	343	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA190559617 rs994261388	345	P>L		No	ClinGen TOPMed
rs1408336243 CA373043861	346	K>E		No	ClinGen gnomAD
CA373043868 rs1307861061	346	K>N		No	ClinGen gnomAD
CA190559621 rs921244730	347	S>F		No	ClinGen TOPMed
CA373043875 rs1296054257	347	S>P		No	ClinGen gnomAD
CA373043891 rs750370111	348	S>C		No	ClinGen TOPMed gnomAD
CA190559630 rs750370111	348	S>F		No	ClinGen TOPMed gnomAD
rs1343173845 CA373043897	349	L>P		No	ClinGen gnomAD
rs749704093 CA5006593	349	L>V		No	ClinGen ExAC gnomAD
rs752730916 CA190559639	351	L>V		No	ClinGen TOPMed gnomAD
CA373043921 rs1343601095	352	V>L		No	ClinGen gnomAD
rs779467991 CA5006595	354	P>A		No	ClinGen ExAC gnomAD
CA373043958 rs1204272220	355	I>V		No	ClinGen TOPMed gnomAD
CA5006596 rs370359218	357	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006597 rs772158225 CA5006598	358	I>L		No	ClinGen ExAC TOPMed gnomAD
rs772158225 CA5006599	358	I>V		No	ClinGen ExAC TOPMed gnomAD
rs771106211 CA5006601	359	L>V		No	ClinGen ExAC gnomAD
rs978787967 CA190559689	360	S>A		No	ClinGen TOPMed
CA190559694 rs200653278	360	S>C		No	ClinGen 1000Genomes TOPMed
rs200653278 CA190559693	360	S>Y		No	ClinGen 1000Genomes TOPMed
CA373044039 rs1412811837	362	T>N		No	ClinGen TOPMed
rs775583478 CA5006605	363	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1237548503 CA373044055	365	E>K		No	ClinGen TOPMed
rs373625671 CA373044074	366	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs144110783 RCV000969234 CA5006607	366	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs144110783 CA373044067	366	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5006611 rs750076084	368	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5006610 rs767136203	368	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5006609 rs368111521	368	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755346305 CA5006612	369	S>Y		No	ClinGen ExAC gnomAD
rs1023478461 CA190559727	370	V>L		No	ClinGen Ensembl
CA373044128 rs1401339076	371	D>N		No	ClinGen gnomAD
CA5006614 rs753232203	371	D>V		No	ClinGen ExAC gnomAD
CA373044147 rs1046091995	372	E>D		No	ClinGen TOPMed gnomAD
CA373044138 rs1205434464	372	E>K		No	ClinGen TOPMed
rs904829218 CA373044166	374	G>R		No	ClinGen TOPMed
CA190559737 rs904829218	374	G>S		No	ClinGen TOPMed
rs1001970680 CA190559738	375	P>L		No	ClinGen TOPMed
CA373044183 rs1001970680	375	P>R		No	ClinGen TOPMed
rs758866491 CA5006615	376	S>F		No	ClinGen ExAC gnomAD
rs1227804085 CA373044216	378	Q>H		No	ClinGen TOPMed
rs747114229 CA5006617	378	Q>R		No	ClinGen ExAC gnomAD
CA5006618 rs140435235	379	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA373044218 rs1310021294	379	Q>K		No	ClinGen TOPMed
CA373044226 rs1410685907	379	Q>R		No	ClinGen TOPMed
CA5006619 rs781273760	380	L>M		No	ClinGen ExAC gnomAD
rs1218899092 CA373044241	381	A>T		No	ClinGen gnomAD
CA190559751 rs559717390	381	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs746030396 CA5006620	382	L>V		No	ClinGen ExAC gnomAD
CA5006621 rs769734551	384	L>I		No	ClinGen ExAC gnomAD
TCGA novel	386	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5006623 rs762812325	386	E>G		No	ClinGen ExAC gnomAD
rs371670691 CA5006622	386	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006624 rs768526873	387	M>T		No	ClinGen ExAC gnomAD
rs774335670 CA5006625	388	I>M		No	ClinGen ExAC gnomAD
rs148691031 CA5006627	391	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1587140194 CA373044377	392	C>Y		No	ClinGen Ensembl
CA5006629 rs760277453	394	R>G		No	ClinGen ExAC gnomAD
CA373044402 rs1287677384	394	R>S		No	ClinGen TOPMed gnomAD
rs765982695 CA5006630	396	D>A		No	ClinGen ExAC TOPMed gnomAD
rs765982695 CA5006631	396	D>G		No	ClinGen ExAC TOPMed gnomAD
CA373044439 rs1182434367	397	H>P		No	ClinGen TOPMed
rs947476701 CA190559805	399	K>E		No	ClinGen Ensembl
TCGA novel	399	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426964002 CA373044471	399	K>R		No	ClinGen gnomAD
CA373045680 rs371466099	400	L>F		No	ClinGen ESP TOPMed gnomAD
CA190563835 rs371466099	400	L>V		No	ClinGen ESP TOPMed gnomAD
rs756252433 CA5006656	401	S>C		No	ClinGen ExAC gnomAD
rs1563991845 CA373045736	405	V>A		No	ClinGen Ensembl
CA5006658 rs780493762	406	C>*		No	ClinGen ExAC gnomAD
CA5006659 rs754747086	407	P>S		No	ClinGen ExAC gnomAD
rs1234956058 CA373045752	408	V>L		No	ClinGen TOPMed
CA5006660 rs142646886	409	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs142646886 CA373045760	409	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs947085438 CA190563860	410	S>R		No	ClinGen TOPMed
CA5006661 rs375010349	411	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs772043798 CA5006662	412	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA373045780 rs772043798	412	Y>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	412	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs990950808 CA190563871	412	Y>N		No	ClinGen Ensembl
rs918145671 CA373045787	413	G>A		No	ClinGen TOPMed gnomAD
rs918145671 CA373045786	413	G>D		No	ClinGen TOPMed gnomAD
rs918145671 CA190563881	413	G>V		No	ClinGen TOPMed gnomAD
rs1440363920 CA373045798	415	I>T		No	ClinGen gnomAD
CA373045795 rs1335411245	415	I>V		No	ClinGen gnomAD
rs1276684239 CA373045805	416	F>S		No	ClinGen gnomAD
CA373045815 rs1346272505	418	A>T		No	ClinGen gnomAD
rs1002804387 CA190563893	419	W>*		No	ClinGen TOPMed
CA373045841 rs1419194342	421	I>M		No	ClinGen TOPMed
CA5006664 rs746586468	421	I>V		No	ClinGen ExAC gnomAD
CA373045856 rs1196167920	424	V>L		No	ClinGen gnomAD
rs568732171 CA5006669	427	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs759178534 CA5006667	427	D>Y		No	ClinGen ExAC gnomAD
rs749477031 CA5006670	428	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1563992051 CA373045893	429	S>F		No	ClinGen Ensembl
CA5006674 rs766512812	430	A>G		No	ClinGen ExAC gnomAD
CA5006673 rs367913356	430	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs367913356 CA5006672	430	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs768770719 CA190563959	431	A>P		No	ClinGen Ensembl
CA373045923 rs1563992116	434	W>L		No	ClinGen Ensembl
rs1433716282 CA373045937	436	A>D		No	ClinGen TOPMed gnomAD
CA373045939 rs1433716282	436	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA190563974 rs768836957	437	S>L		No	ClinGen Ensembl
rs1053939624 CA190563984	439	E>G		No	ClinGen Ensembl
rs1408395413 CA373045951	439	E>K		No	ClinGen TOPMed gnomAD
CA373045962 rs1206670791	440	S>L		No	ClinGen TOPMed
CA190563988 rs900259492	440	S>T		No	ClinGen Ensembl
rs571475723 CA190564010	442	L>I		No	ClinGen Ensembl
CA5006676 rs776996920	444	I>F		No	ClinGen ExAC TOPMed gnomAD
rs776996920 CA190564024	444	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1365045794 CA373045989	445	T>N		No	ClinGen TOPMed
rs140442849 CA5006677	446	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140442849 CA373045992	446	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs758183031 CA5006679	447	V>L		No	ClinGen ExAC gnomAD
CA373045998 rs758183031	447	V>M		No	ClinGen ExAC gnomAD
CA5006680 rs777690905	448	I>F		No	ClinGen ExAC gnomAD
CA373046010 rs1563992272	449	P>S		No	ClinGen Ensembl
CA373046017 rs537746068	450	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5006682 COSM455757 rs537746068	450	A>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA373046022 rs372077661	451	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006684 rs372077661	451	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA373046026 rs1219633897	452	A>P		No	ClinGen gnomAD
CA5006685 rs769536029	453	F>V		No	ClinGen ExAC TOPMed gnomAD
rs774993937 CA373046037	454	L>F		No	ClinGen ExAC TOPMed gnomAD
CA190564068 rs770256951	454	L>H		No	ClinGen Ensembl
rs774993937 CA190564064	454	L>I		No	ClinGen ExAC TOPMed gnomAD
rs774993937 CA5006686	454	L>V		No	ClinGen ExAC TOPMed gnomAD
rs772501625 CA5006688	457	A>S		No	ClinGen ExAC TOPMed gnomAD
rs772501625 CA5006689	457	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1261282872 CA373046053	457	A>V		No	ClinGen TOPMed
rs138298645 CA190564083	458	H>D		No	ClinGen ESP TOPMed gnomAD
CA5006690 rs761219234	458	H>R		No	ClinGen ExAC gnomAD
rs138298645 CA190564084	458	H>Y		No	ClinGen ESP TOPMed gnomAD
rs1281846033 CA373046059	459	L>F		No	ClinGen TOPMed
rs1165659542 CA373046067	460	L>F		No	ClinGen gnomAD
rs1386095843 CA373046073	461	V>F		No	ClinGen TOPMed gnomAD
rs1386095843 CA373046071	461	V>I		No	ClinGen TOPMed gnomAD
CA5006692 rs78653020	465	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs112541381 CA5006691	465	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	466	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765559875 CA5006694	467	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1364698545 CA373046120	468	L>I		No	ClinGen TOPMed
rs752793923 CA5006696	469	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1317616356 CA373046130	469	H>R		No	ClinGen gnomAD
rs777494737 CA5006697	470	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs763418424 CA5006700	471	I>M		No	ClinGen ExAC TOPMed gnomAD
rs145063832 CA5006699	471	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs376416980 CA5006702	473	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006703 rs779764068	473	K>R		No	ClinGen ExAC gnomAD
CA373046153 rs779764068	473	K>T		No	ClinGen ExAC gnomAD
rs1041459138 CA190564146	474	V>I		No	ClinGen TOPMed gnomAD
rs201354712 CA5006705	475	T>A		No	ClinGen ExAC gnomAD
TCGA novel	475	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181144037 CA373046168	476	T>A		No	ClinGen TOPMed
rs1185822837 CA373046170	476	T>K		No	ClinGen TOPMed gnomAD
rs761094777 CA5006707	479	A>V		No	ClinGen ExAC gnomAD
CA373046197 rs1444398241	480	Q>L		No	ClinGen gnomAD
rs776996995 CA5006709	481	A>G		No	ClinGen ExAC gnomAD
CA5006708 rs771523549	481	A>P		No	ClinGen ExAC gnomAD
CA373046205 rs1454394692	482	D>H		No	ClinGen TOPMed gnomAD
rs759663478 CA5006710	482	D>V		No	ClinGen ExAC gnomAD
rs1454394692 CA373046206	482	D>Y		No	ClinGen TOPMed gnomAD
CA5006711 rs148177895	484	S>C		No	ClinGen ESP ExAC TOPMed
CA373046222 rs148177895	484	S>F		No	ClinGen ESP ExAC TOPMed
CA5006712 rs752938063	485	Q>R		No	ClinGen ExAC gnomAD
CA5006731 rs775578067	486	V>M		No	ClinGen ExAC gnomAD
CA373047807 rs1284513697	487	P>A		No	ClinGen gnomAD
rs764312990 CA5006733	488	N>S		No	ClinGen ExAC gnomAD
CA5006732 rs762971556	488	N>Y		No	ClinGen ExAC
rs774488134 CA373047818	489	L>M		No	ClinGen ExAC gnomAD
CA5006735 rs761733200 CA373047855	494	M>I		No	ClinGen ExAC gnomAD
TCGA novel	498	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396933241 CA373047882	498	G>R		No	ClinGen TOPMed
rs760242048 CA190593750	499	R>K		No	ClinGen ExAC gnomAD
rs760242048 CA5006736	499	R>T		No	ClinGen ExAC gnomAD
CA5006737 rs750420463	500	P>L		No	ClinGen ExAC TOPMed gnomAD
CA373047900 rs1297008683	501	L>R		No	ClinGen TOPMed
rs753416369 CA5006740	503	P>A		No	ClinGen ExAC TOPMed gnomAD
rs754475457 CA5006741	503	P>H		No	ClinGen ExAC gnomAD
rs754475457 CA373047911	503	P>L		No	ClinGen ExAC gnomAD
rs753416369 CA373047909	503	P>T		No	ClinGen ExAC TOPMed gnomAD
rs565530237 CA190593821	504	I>V		No	ClinGen TOPMed gnomAD
CA190593838 rs763652825	506	Y>C		No	ClinGen ExAC gnomAD
CA5006742 rs763652825	506	Y>S		No	ClinGen ExAC gnomAD
rs747790934 CA5006743	508	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	509	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5006744 rs757691743	511	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5006745 rs781380524	513	L>I		No	ClinGen ExAC gnomAD
rs1405063692 CA373048005	517	G>V		No	ClinGen gnomAD
CA5006747 rs746203793	519	H>L		No	ClinGen ExAC gnomAD
rs746203793 CA5006746	519	H>R		No	ClinGen ExAC gnomAD
rs780603669 CA5006767	522	C>F		No	ClinGen ExAC gnomAD
CA190594280 rs1026795940	522	C>G		No	ClinGen TOPMed
rs1240114528 CA373048053	523	I>M		No	ClinGen TOPMed
rs990425486 CA190594302	523	I>T		No	ClinGen TOPMed gnomAD
CA5006768 rs17832431 VAR_037879 RCV000890800	523	I>V		No	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1199294101 CA373048064	525	Q>R		No	ClinGen TOPMed
CA373048070 rs1468226073	526	I>F		No	ClinGen TOPMed
CA5006769 rs141620768	528	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs778930504 CA5006771	528	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5006770 COSM172965 rs778930504	528	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5006775 rs770839489	529	I>M		No	ClinGen ExAC gnomAD
rs140318156 CA5006774	529	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5006777 rs142732301	530	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs776761727 CA5006776	530	I>T		No	ClinGen ExAC gnomAD
rs1587296158 CA373048089	530	I>V		No	ClinGen Ensembl
rs1331468317 CA373048093	531	Q>E		No	ClinGen TOPMed
CA373048109 rs1161829357	533	L>P		No	ClinGen gnomAD
rs910522015 CA190594388	534	G>A		No	ClinGen gnomAD
rs765227117 CA5006779	534	G>R		No	ClinGen ExAC gnomAD
rs1325183210 CA373048116	535	T>A		No	ClinGen TOPMed
rs147380497 CA5006780	536	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147380497 CA5006781	536	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs944716404 CA190594442	537	P>A		No	ClinGen TOPMed
rs751218659 CA5006783	537	P>R		No	ClinGen ExAC gnomAD
rs376037039 CA5006784	538	R>*		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs551102582 CA5006785	538	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5006787 rs755507220	539	L>I		No	ClinGen ExAC gnomAD
rs779339793 CA5006788	539	L>P		No	ClinGen ExAC gnomAD
rs1264739950 CA373048150	542	V>F		No	ClinGen gnomAD
CA190594490 rs368864225	545	R>C		No	ClinGen gnomAD
rs772192068 CA5006791	545	R>H		No	ClinGen ExAC gnomAD
rs747234476 CA5006793	547	L>V		No	ClinGen ExAC gnomAD
rs938532205 CA190594530	548	T>S		No	ClinGen TOPMed
rs1179775314 CA373048187	549	S>T		No	ClinGen TOPMed
TCGA novel	551	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs993672549 CA190594531	552	E>G		No	ClinGen Ensembl
rs1157653433 CA373048226	554	Q>*		No	ClinGen gnomAD
CA5006820 rs768089116	555	D>E		No	ClinGen ExAC TOPMed gnomAD
rs76372746 CA190595205	555	D>Y		No	ClinGen Ensembl
CA5006821 rs773097610	556	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1214748604 CA373048252	556	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA373048251 rs1214748604	556	R>Q		No	ClinGen gnomAD
rs1271894149 CA373048265	558	Y>C		No	ClinGen gnomAD
rs1224094326 CA373048273	559	P>L		No	ClinGen gnomAD
rs1481750226 CA373048268	559	P>T		No	ClinGen gnomAD
CA5006822 rs761260599	560	E>A		No	ClinGen ExAC gnomAD
rs139120514 CA190595227	562	Q>*		No	ClinGen ESP TOPMed gnomAD
CA373048290 rs1273014007	562	Q>L		No	ClinGen gnomAD
CA5006825 rs370908909	563	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs753188337 CA5006827	565	M>V		No	ClinGen ExAC TOPMed gnomAD
rs758976335 CA5006828	566	A>D		No	ClinGen ExAC gnomAD
rs75018335 CA190595265	567	V>G		No	ClinGen Ensembl
rs1165538415 CA373048318	567	V>M		No	ClinGen gnomAD
CA5006829 rs764461652	570	V>I		No	ClinGen ExAC
CA373048352 rs1284314100	572	S>C		No	ClinGen TOPMed
COSM1742327 rs757340789 CA5006831	574	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5006833 rs746075137	576	G>R		No	ClinGen ExAC TOPMed gnomAD
CA190595289 rs907438052	577	K>R		No	ClinGen TOPMed
rs1247803192 CA373048401	580	Q>R		No	ClinGen TOPMed gnomAD
rs564649863 CA5006835	581	W>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1265887124 CA373048458	588	A>V		No	ClinGen gnomAD
rs748992849 CA5006836	589	A>T		No	ClinGen ExAC gnomAD
rs768658848 CA5006837	589	A>V		No	ClinGen ExAC gnomAD
rs1247867802 CA373048469	590	S>*		No	ClinGen gnomAD
rs747657602 CA5006839	591	I>V		No	ClinGen ExAC TOPMed gnomAD
rs771561373 CA5006840	592	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5006842 COSM3413554 rs772904307	594	I>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs760291971 CA373048512	596	K>N		No	ClinGen ExAC gnomAD
CA5006844 rs765910581	597	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1319638119 CA373048518	597	Q>H		No	ClinGen gnomAD
CA190595367 rs915648649	598	R>K		No	ClinGen TOPMed
rs753998861 CA5006871	600	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	601	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754854567 CA5006872	602	H>R		No	ClinGen ExAC TOPMed gnomAD
rs200357093 CA190597171	602	H>Y		No	ClinGen Ensembl
CA373048568 rs1176874509	603	G>D		No	ClinGen gnomAD
rs752451699 CA5006874	605	D>A		No	ClinGen ExAC TOPMed gnomAD
CA5006877 rs746534937	606	M>I		No	ClinGen ExAC gnomAD
rs758356999 CA5006875	606	M>K		No	ClinGen ExAC TOPMed gnomAD
rs758356999 CA5006876	606	M>T		No	ClinGen ExAC TOPMed gnomAD
CA373048585 rs1341811238	606	M>V		No	ClinGen gnomAD
rs1312218065 CA373048595	607	L>F		No	ClinGen TOPMed
CA5006879 rs368222789	608	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1383123462 CA373048602	609	A>T		No	ClinGen TOPMed
CA5006881 rs146537716	610	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA373048621 rs1225961984	612	Q>E		No	ClinGen TOPMed gnomAD
rs774886074 CA5006882	615	N>S		No	ClinGen ExAC gnomAD
TCGA novel	616	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373048665 rs1312033391	618	T>A		No	ClinGen gnomAD
CA373048664 rs1312033391	618	T>P		No	ClinGen gnomAD
CA5006884 rs772716555	620	P>L		No	ClinGen ExAC gnomAD
CA5006886 rs760871896	621	D>G		No	ClinGen ExAC gnomAD
rs773521117 CA5006885	621	D>H		No	ClinGen ExAC gnomAD
rs1487819932 CA373048690	622	Q>E		No	ClinGen gnomAD
rs1208695564 CA373048692	622	Q>P		No	ClinGen gnomAD
CA5006887 rs141228298	623	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5006888 rs776956959	624	T>P		No	ClinGen ExAC gnomAD
CA373048708 rs1450934174	625	P>A		No	ClinGen TOPMed gnomAD
rs145030053 CA5006889	625	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs145030053 CA5006890	625	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450934174 CA373048709	625	P>S		No	ClinGen TOPMed gnomAD
CA5006891 rs752502974	626	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5006892 rs758123924	626	A>V		No	ClinGen ExAC TOPMed gnomAD
rs925918971 CA190597301	627	A>D		No	ClinGen TOPMed gnomAD
CA190597306 rs1039762480	628	L>S		No	ClinGen Ensembl
CA5006893 rs764085571	628	L>V		No	ClinGen ExAC TOPMed gnomAD
rs899951781 CA190597313	629	V>G		No	ClinGen gnomAD
CA190597308 rs199615968	629	V>L		No	ClinGen Ensembl
CA373048736 rs1252331890	631	Q>*		No	ClinGen TOPMed
rs1407277660 CA373048748	632	G>A		No	ClinGen gnomAD
TCGA novel	632	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756840435 CA5006895	633	L>F		No	ClinGen ExAC gnomAD
CA373048754 rs1205810684	633	L>R		No	ClinGen TOPMed
CA373048759 rs1389177730	634	H>R		No	ClinGen gnomAD
CA373048763 rs1367298988	635	A>T		No	ClinGen gnomAD
CA373048768 rs1587307810	635	A>V		No	ClinGen Ensembl
rs1385461266 CA373048772	636	L>H		No	ClinGen TOPMed gnomAD
rs773480823 CA373048794	639	A>G		No	ClinGen TOPMed
CA5006896 rs375269275	639	A>T		No	ClinGen ESP ExAC TOPMed
rs773480823 CA190597348	639	A>V		No	ClinGen TOPMed
rs745341525 CA5006897	640	E>V		No	ClinGen ExAC gnomAD
rs763775949 CA5006911	641	V>F		No	ClinGen ExAC gnomAD
rs1289319960 CA373049721	643	C>*		No	ClinGen gnomAD
rs374861568 CA5006913	645	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006914 rs767440130 COSM1461728	645	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA190595722 rs767440130	645	R>L		No	ClinGen ExAC TOPMed gnomAD
rs374861568 CA190595694	645	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1268502734 CA373049733	646	S>P		No	ClinGen gnomAD
CA5006915 rs749912265	647	T>A		No	ClinGen ExAC gnomAD
rs1206400129 CA373049742	647	T>I		No	ClinGen gnomAD
CA373049739 rs749912265	647	T>S		No	ClinGen ExAC gnomAD
rs372570734 CA190595733	649	N>H		No	ClinGen Ensembl
TCGA novel	650	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755614619 CA5006917	651	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5006916 rs755614619	651	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5006919 rs748932050	653	P>A		No	ClinGen ExAC TOPMed gnomAD
rs560989479 CA373049777	653	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560989479 CA5006920	653	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5006918 rs748932050	653	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5006923 rs777130708	659	T>I		No	ClinGen ExAC gnomAD
CA5006924 rs192542556	660	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA373049833 rs1318718048	662	L>V		No	ClinGen TOPMed gnomAD
CA373049848 rs1408554116	664	L>P		No	ClinGen gnomAD
rs1449118253 CA373049850	665	K>Q		No	ClinGen gnomAD
CA5006927 rs374337191	667	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5006928 rs768881654	667	L>P		No	ClinGen ExAC gnomAD
rs1288949452 CA373049868	668	S>G		No	ClinGen gnomAD
CA5006929 rs774037339	668	S>N		No	ClinGen ExAC gnomAD
CA190595813 rs906643811	669	E>G		No	ClinGen Ensembl
CA373049884 rs1233469810	670	L>R		No	ClinGen TOPMed
CA190595818 rs999623679	670	L>V		No	ClinGen TOPMed
rs1442607306 CA373049889	671	F>Y		No	ClinGen gnomAD
CA5006930 rs761610690	672	S>P		No	ClinGen ExAC
rs1209044727 CA373049897	672	S>Y		No	ClinGen gnomAD
rs377733434 CA190595834 COSM455758	673	L>V	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
rs1184881313 CA373049909	675	P>A		No	ClinGen TOPMed gnomAD
rs1184881313 CA373049908	675	P>T		No	ClinGen TOPMed gnomAD
rs530069272 CA190595840	676	S>A		No	ClinGen TOPMed gnomAD
rs1564084556 CA373049919	677	L>I		No	ClinGen Ensembl
CA373049927 rs1157388274	678	T>A		No	ClinGen gnomAD
rs369416690 CA5006932	678	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA373049932 rs1333783275	679	V>I		No	ClinGen gnomAD
CA5006934 rs765962025	680	N>D		No	ClinGen ExAC gnomAD
COSM3664282 CA5006935 rs753361255	680	N>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	685	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	686	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373050220 rs1273255311	688	K>E		No	ClinGen gnomAD
CA373050224 rs1339479065	688	K>I		No	ClinGen TOPMed gnomAD
rs757613631 CA5006956	691	V>F		No	ClinGen ExAC gnomAD
CA373050251 rs1292653231	692	L>R		No	ClinGen gnomAD
rs750745266 CA5006959	693	S>G		No	ClinGen ExAC gnomAD
rs1198584442 CA373050255	693	S>T		No	ClinGen gnomAD
CA5006961 CA5006962 rs780481117	696	W>R		No	ClinGen ExAC gnomAD
rs1189478232 CA373050282	697	T>S		No	ClinGen gnomAD
CA5006963 rs768773534	698	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5006964 rs151286548 RCV000888333	702	K>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs377398329 CA190599077	702	K>R		No	ClinGen ESP TOPMed
rs1211724033 CA373050337	703	D>G		No	ClinGen gnomAD
CA5006997 rs748130280	704	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201808337 CA5006996	704	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373050341 rs201808337	704	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5006999 rs531293899	705	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140545759 CA5006998	705	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370449570 CA5007000	706	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs770837350 CA373050372	709	A>D		No	ClinGen ExAC gnomAD
rs770837350 CA5007001	709	A>G		No	ClinGen ExAC gnomAD
rs201003561 CA5007002	710	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201003561 CA190600541	710	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769579823 CA5007004	711	Y>C		No	ClinGen ExAC gnomAD
CA5007006 rs762310281	713	S>F		No	ClinGen ExAC gnomAD
rs775087151 CA5007005	713	S>T		No	ClinGen ExAC gnomAD
CA373050394 rs762310281	713	S>Y		No	ClinGen ExAC gnomAD
CA5007008 rs773988129	715	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5007007 rs763740223	715	A>T		No	ClinGen ExAC gnomAD
rs1172827814 CA373050410	716	N>K		No	ClinGen TOPMed gnomAD
rs761082770 CA5007009	716	N>S		No	ClinGen ExAC TOPMed gnomAD
VAR_037880 rs7875872 CA190600664	718	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs765608167 CA5007013 COSM1187695	720	G>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5007012 rs755537161	720	G>R		No	ClinGen ExAC gnomAD
CA190600708 VAR_049528 rs10964742	721	E>K		No	ClinGen UniProt Ensembl dbSNP
CA190600727 rs565643995	722	H>Y		No	ClinGen gnomAD
CA5007016 rs758552009	724	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5007017 rs778202517	725	L>V		No	ClinGen ExAC gnomAD
rs1198793529 CA373050470	726	H>P		No	ClinGen gnomAD
CA373050472 rs1198793529	726	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747212697 CA5007018	726	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757159374 CA5007019	727	L>M		No	ClinGen ExAC gnomAD
CA373050477 rs1483326778	727	L>P		No	ClinGen TOPMed gnomAD
rs745602346 CA5007021	729	E>V		No	ClinGen ExAC gnomAD
CA5007022 rs769782124	730	K>E		No	ClinGen ExAC gnomAD
rs561233241 CA5007057	731	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373050627 rs1466994272	732	R>G		No	ClinGen gnomAD
CA373050635 rs1248274771	733	P>T		No	ClinGen gnomAD
rs191559274 CA5007059	735	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5007060 rs775739710	735	I>T		No	ClinGen ExAC gnomAD
CA5007061 rs753587095	736	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754929282 CA5007062	737	I>T		No	ClinGen ExAC gnomAD
rs778758761 CA5007063	739	E>D		No	ClinGen ExAC TOPMed gnomAD
rs780958263 CA190609718	740	E>A		No	ClinGen Ensembl
rs146908112 CA373050695	742	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007064 rs146908112	742	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA373050707 rs1564098816	744	D>G		No	ClinGen Ensembl
CA5007066 rs543197802	744	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543197802 CA5007065	744	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746611391 CA5007067	746	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1564098846 CA373050724	746	D>V		No	ClinGen Ensembl
rs1237687016 CA373050731	747	V>D		No	ClinGen TOPMed
CA373050728 rs1434694359	747	V>L		No	ClinGen TOPMed gnomAD
CA373050735 rs1203374572	748	E>*		No	ClinGen TOPMed
rs770579182 CA5007068	748	E>G		No	ClinGen ExAC gnomAD
CA5007069 rs776020977	749	D>Y		No	ClinGen ExAC gnomAD
rs1435521007 CA373050759	751	D>E		No	ClinGen TOPMed
TCGA novel	753	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373050768 rs1193017002	753	S>P		No	ClinGen gnomAD
rs1005471349 CA190609790	755	P>A		No	ClinGen TOPMed
CA373050787 rs1229988983	756	G>D		No	ClinGen gnomAD
COSM422397 rs1268602854 CA373050794	757	S>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA373050793 rs1268602854	757	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA373050801 rs1464139045	758	C>S		No	ClinGen gnomAD
CA5007071 rs769289428	758	C>W		No	ClinGen ExAC gnomAD
rs200978429 CA5007072	759	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs200978429 CA5007073	759	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs200978429 CA190609800	759	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA190609820 rs982240544	760	L>P		No	ClinGen Ensembl
CA373050812 rs982240544	760	L>R		No	ClinGen Ensembl
CA373050809 rs1483311714	760	L>V		No	ClinGen gnomAD
rs777707416 CA190609824	765	L>V		No	ClinGen gnomAD
CA5007075 rs773519532	766	T>I		No	ClinGen ExAC gnomAD
rs1413220128 CA373050852	767	P>H		No	ClinGen TOPMed gnomAD
rs1413220128 CA373050854	767	P>L		No	ClinGen TOPMed gnomAD
CA5007077 rs375015668	768	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1157236195 CA373050857	768	P>S		No	ClinGen gnomAD
CA5007078 rs142698718	769	L>M		No	ClinGen ESP ExAC gnomAD
rs1302395983 CA373050884	772	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA373050882 rs1302395983	772	P>Q		No	ClinGen gnomAD
CA190609876 rs760906945	773	A>T		No	ClinGen Ensembl
CA5007102 rs758290540	774	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	775	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373050983 rs1437819341	776	E>K		No	ClinGen gnomAD
TCGA novel	778	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5007103 rs200634680	779	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000973187 rs147376982 CA5007104	779	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1193268780 CA373051039	780	S>*		No	ClinGen gnomAD
CA373051033 rs1478467330	780	S>T		No	ClinGen gnomAD
rs756785398 CA5007105	781	L>R		No	ClinGen ExAC gnomAD
CA5007106 rs781047724	782	V>L		No	ClinGen ExAC TOPMed gnomAD
rs781047724 CA190616029	782	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1395673621 CA373051194	784	Q>R		No	ClinGen gnomAD
TCGA novel	785	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373051212 rs1408175734	786	M>I		No	ClinGen gnomAD
CA373051217 rs1453308653	787	V>M		No	ClinGen gnomAD
CA5007107 COSM150586 rs750076736	789	M>V	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs148438998 CA5007108	790	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs886598107 CA190616037	790	P>S		No	ClinGen TOPMed gnomAD
CA5007110 rs748492866	791	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772467169 CA5007111	791	R>H		No	ClinGen ExAC TOPMed gnomAD
CA190616050 rs748492866	791	R>S		No	ClinGen ExAC TOPMed gnomAD
CA190616065 rs1056979468	793	I>M		No	ClinGen Ensembl
rs1296321549 CA373051266	795	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1233517109 CA373051274	796	S>A		No	ClinGen TOPMed
CA5007112 rs778273578	796	S>C		No	ClinGen ExAC gnomAD
CA5007113 rs747118432	797	A>T		No	ClinGen ExAC TOPMed gnomAD
CA373051281 rs1292410462	797	A>V		No	ClinGen gnomAD
rs554439715 CA5007114	799	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA190616113 CA5007115 rs776882150	800	G>R		No	ClinGen ExAC TOPMed gnomAD
rs759785109 CA5007116	801	G>A		No	ClinGen ExAC gnomAD
CA5007117 rs79849792	802	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775165461 CA5007118	803	R>C		No	ClinGen ExAC TOPMed gnomAD
rs150555461 CA5007119	803	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007120 rs150555461	803	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007122 rs761275906	804	S>L		No	ClinGen ExAC gnomAD
CA5007121 rs751498677	804	S>P		No	ClinGen ExAC
rs1164960491 CA373051318	805	D>H		No	ClinGen gnomAD
rs752391891 CA190616188	807	G>E		No	ClinGen Ensembl
rs1414165983 CA373051344	808	K>N		No	ClinGen gnomAD
rs1564107540 CA373051342	808	K>R		No	ClinGen Ensembl
rs767100604 CA5007123	810	V>A		No	ClinGen ExAC TOPMed gnomAD
rs749908761 CA5007124	811	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1168403265 CA373051364	812	G>E		No	ClinGen gnomAD
rs369836949 CA5007126	812	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007128 rs758778522	813	I>N		No	ClinGen ExAC TOPMed gnomAD
rs377182907 CA5007129	814	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA373051378 rs773950819	815	N>H		No	ClinGen ExAC TOPMed gnomAD
rs980114280 CA190616235	815	N>K		No	ClinGen TOPMed
CA5007130 rs773950819	815	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1564107623 CA373051389	816	F>C		No	ClinGen Ensembl
rs759385957 CA190616240	817	I>V		No	ClinGen Ensembl
CA5007131 rs771387833	818	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1357429605 CA373051417	820	M>R		No	ClinGen gnomAD
rs1357429605 CA373051416	820	M>T		No	ClinGen gnomAD
rs1271701687 CA373051427	821	Y>*		No	ClinGen gnomAD
CA5007132 rs781276645	821	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA190616270 rs1000848628	822	E>D		No	ClinGen Ensembl
CA373051428 rs1348735975	822	E>K		No	ClinGen gnomAD
TCGA novel	824	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5007134 rs745894042	824	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5007135 rs770011565	825	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs775778874 CA5007136	825	K>T		No	ClinGen ExAC gnomAD
rs996257837 CA190616289	826	Q>H		No	ClinGen TOPMed gnomAD
CA373051495 rs1474878446	832	G>D		No	ClinGen gnomAD
CA373051506 rs1413981508	834	A>S		No	ClinGen gnomAD
rs1457389815 CA373051509	834	A>V		No	ClinGen gnomAD
rs746017573 CA5007155	836	G>V		No	ClinGen ExAC TOPMed gnomAD
CA5007156 rs756176138	837	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5007158 rs146757351	841	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5007159 rs140023126	842	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007161 rs747893137	845	M>I		No	ClinGen ExAC gnomAD
rs1276713633 CA373051866	845	M>T		No	ClinGen gnomAD
rs774213759 CA5007160	845	M>V		No	ClinGen ExAC TOPMed gnomAD
COSM1756103 CA5007162 rs772139442	847	Q>E	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5007163 rs773277259	847	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA373051880 rs1402806142	847	Q>L		No	ClinGen TOPMed
rs1323802242 CA373051887	848	S>N		No	ClinGen TOPMed
CA5007164 rs760313202	849	K>E		No	ClinGen ExAC gnomAD
rs865968974 CA190618893	853	P>L		No	ClinGen Ensembl
CA373051939 rs1159836476	855	N>K		No	ClinGen TOPMed
rs867858456 CA190618915	858	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs551803185 CA373051962	859	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5007167 rs551803185	859	A>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	859	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA190618928 rs902340174	860	S>R		No	ClinGen TOPMed gnomAD
COSM3395737 rs1463005640 CA373051980	862	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1161907698 CA373051986	863	R>G		No	ClinGen gnomAD
CA5007169 rs571695037	863	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571695037 CA5007168	863	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs569660839 CA190618941	864	S>G		No	ClinGen Ensembl
CA5007170 rs199505982	866	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs199505982 CA5007171	866	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs117863779 CA373052013	867	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5007172 rs117863779	867	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5007173 rs756185825	868	T>A		No	ClinGen ExAC TOPMed gnomAD
CA373052018 rs756185825	868	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	869	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs187654100 CA5007174	871	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373052041 rs1232148099	872	L>F		No	ClinGen gnomAD
CA373052057 rs1275272223	874	H>Q		No	ClinGen TOPMed
rs749274551 CA5007176	874	H>R		No	ClinGen ExAC TOPMed gnomAD
CA373052058 rs1429551909	875	E>K		No	ClinGen TOPMed
CA373049497 rs1434562523	877	H>P		No	ClinGen TOPMed
CA373049496 rs1460014730	877	H>Y		No	ClinGen gnomAD
CA5007202 rs745443968	878	I>M		No	ClinGen ExAC gnomAD
rs1324460008 CA373049514	879	Q>H		No	ClinGen TOPMed
CA5007203 rs769166640	881	S>L		No	ClinGen ExAC gnomAD
rs368263108 CA5007204	882	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA373049527 rs1287233661	882	E>Q		No	ClinGen gnomAD
rs540233935 CA190569650	883	W>*		No	ClinGen Ensembl
TCGA novel	884	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs188648560 CA5007206	885	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1461734 CA5007207 rs199581066	885	R>H	Variant assessed as Somatic; 4.624e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs188648560 CA373049550	885	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA190569653 rs948332267	886	A>E		No	ClinGen Ensembl
TCGA novel	889	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567258919 CA5007209	889	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs759708376 CA5007211	891	Q>*		No	ClinGen ExAC gnomAD
CA5007212 rs765441165	892	A>V		No	ClinGen ExAC gnomAD
CA5007213 rs752777221	893	W>*		No	ClinGen ExAC gnomAD
rs1189281717 CA373049605	894	L>I		No	ClinGen gnomAD
rs1257211753 CA373049611	895	A>T		No	ClinGen gnomAD
rs1179371077 CA373049626	897	M>V		No	ClinGen gnomAD
rs1463128433 CA373049639	898	N>I		No	ClinGen TOPMed
CA5007217 rs751441485	899	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5007216 rs751441485	899	R>G		No	ClinGen ExAC gnomAD
CA190569720 COSM1107734 rs938415809	899	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5007219 rs745765502	901	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA373049661 rs1435186700	902	H>R		No	ClinGen gnomAD
CA5007220 rs200955578	903	A>D		No	ClinGen ExAC gnomAD
COSM240386 rs376500027 CA5007221	905	L>I	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA373049685 rs1411402044	906	Q>*		No	ClinGen gnomAD
rs1278357090 CA373049687	906	Q>R		No	ClinGen TOPMed
rs1333306296 CA373049993	907	G>E		No	ClinGen gnomAD
rs373630137 CA5007241	907	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007242 rs778674244	908	R>T		No	ClinGen ExAC gnomAD
CA190573862 rs1050546959	910	G>R		No	ClinGen TOPMed
rs1274073430 CA373050026	913	E>Q		No	ClinGen gnomAD
CA373050042 rs1437645157	915	Q>*		No	ClinGen gnomAD
rs776874602 CA373050065	918	H>L		No	ClinGen ExAC gnomAD
CA5007245 rs776874602	918	H>R		No	ClinGen ExAC gnomAD
rs771707795 CA5007244	918	H>Y		No	ClinGen ExAC gnomAD
CA373050072 rs1587588099	919	G>E		No	ClinGen Ensembl
rs375679429 CA5007247	920	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1476315962 CA373050099	923	P>A		No	ClinGen gnomAD
CA373050110 rs1418474065	924	E>D		No	ClinGen TOPMed gnomAD
CA373050108 rs1168426839	924	E>G		No	ClinGen TOPMed gnomAD
CA373050118 rs1166881835	925	E>D		No	ClinGen gnomAD
rs1009575386 CA190573890	925	E>G		No	ClinGen TOPMed gnomAD
rs1439784034 CA373050123	926	V>G		No	ClinGen gnomAD
CA5007249 rs763178894	926	V>M		No	ClinGen ExAC gnomAD
rs1366747071 CA373050138	928	Y>*		No	ClinGen gnomAD
rs1433456399 CA373050149	930	K>E		No	ClinGen gnomAD
rs776730128	931	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5007252 rs774452281	931	S>I		No	ClinGen ExAC gnomAD
CA373050160 rs774452281	931	S>N		No	ClinGen ExAC gnomAD
TCGA novel	931	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5007253 rs151080385	932	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA190573952 CA190573953 rs1007726056	934	W>R		No	ClinGen gnomAD
rs1476875395 CA373050514	937	V>I		No	ClinGen gnomAD
CA5007287 rs779467045	938	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1252474828 CA373050526	939	D>N		No	ClinGen gnomAD
CA5007288 rs142545136	940	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142545136 CA190577020	940	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1180645895 CA373050541	941	L>V		No	ClinGen gnomAD
rs1312357025 CA373050551	942	T>I		No	ClinGen TOPMed
CA190577056 rs773217224	944	E>D		No	ClinGen TOPMed gnomAD
rs773463012 CA5007290	944	E>G		No	ClinGen ExAC TOPMed gnomAD
rs772169472 CA5007289	944	E>K		No	ClinGen ExAC gnomAD
CA373050560 rs772169472	944	E>Q		No	ClinGen ExAC gnomAD
CA5007291 rs760917139	946	T>I		No	ClinGen ExAC TOPMed gnomAD
CA373050576 rs760917139	946	T>S		No	ClinGen ExAC TOPMed gnomAD
CA373050592 rs1434709805	949	A>P		No	ClinGen gnomAD
rs1301406765 CA373050602	950	A>G		No	ClinGen gnomAD
rs1401122126 CA373050599	950	A>S		No	ClinGen TOPMed
rs1399088902 CA373050607	951	K>R		No	ClinGen gnomAD
rs1226417566 CA373050903	952	E>*		No	ClinGen gnomAD
rs1226417566 CA373050902	952	E>Q		No	ClinGen gnomAD
CA5007314 rs200166806 COSM1461736	954	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs200166806 CA373050920	954	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373050921 rs200166806	954	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373050942 rs1449392267	958	G>C		No	ClinGen TOPMed gnomAD
CA5007316 rs745700392	958	G>D		No	ClinGen ExAC gnomAD
CA5007317 rs542187777	959	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5007318 rs542187777	959	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs371813912 CA5007321	960	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs371813912 CA5007322	960	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371813912 CA5007320	960	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755336750 CA5007325	961	L>P		No	ClinGen ExAC gnomAD
rs750074653 CA5007324	961	L>V		No	ClinGen ExAC gnomAD
rs117748510 CA5007327	964	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117748510 CA5007326	964	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs531493485 CA373051032 CA5007329	965	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5007331 rs757306328	968	A>G		No	ClinGen ExAC gnomAD
rs747150003 CA5007330	968	A>T		No	ClinGen ExAC gnomAD
rs781434828 CA373051075	969	V>F		No	ClinGen ExAC TOPMed gnomAD
rs781434828 CA5007332	969	V>I		No	ClinGen ExAC TOPMed gnomAD
rs775372199 CA5007335	970	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5007338 rs141111974	971	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA373051087 rs141111974 CA5007337	971	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007339 rs372405500	973	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564158084 CA373051098	973	R>K		No	ClinGen Ensembl
rs369303617 CA373051109	974	H>Q		No	ClinGen gnomAD
CA373051107 rs1222969102	974	H>R		No	ClinGen TOPMed
CA373051113 rs1319597570	975	E>*		No	ClinGen TOPMed gnomAD
CA373051118 rs1217308875	975	E>D		No	ClinGen gnomAD
rs375123367 CA5007341	977	S>N		No	ClinGen ESP ExAC TOPMed
rs760398467 CA5007342	977	S>R		No	ClinGen ExAC gnomAD
CA5007343 rs765889743	978	L>P		No	ClinGen ExAC gnomAD
rs1295949366 CA373051140	979	S>F		No	ClinGen gnomAD
rs753174447 CA5007344	979	S>P		No	ClinGen ExAC TOPMed gnomAD
CA190583002 rs987973571	980	S>L		No	ClinGen Ensembl
CA373051143 rs1300018686	980	S>T		No	ClinGen TOPMed
rs1476401458 CA373051147	981	D>H		No	ClinGen gnomAD
CA5007347 rs369597486	983	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1417375163 CA373051163	983	D>G		No	ClinGen gnomAD
CA5007345 rs758748863	983	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs371521414 CA5007349	984	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs757725058 CA5007348	984	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs889141967 CA190583024	985	L>P		No	ClinGen TOPMed
rs1452925989 CA373051177	986	L>Q		No	ClinGen TOPMed gnomAD
CA373051179 rs1452925989	986	L>R		No	ClinGen TOPMed gnomAD
CA5007350 rs545334429	987	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA5007375 rs757590161	988	V>F		No	ClinGen ExAC gnomAD
CA190585196 rs757590161	988	V>I		No	ClinGen ExAC gnomAD
rs201363252 CA190585207	990	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201363252 CA5007376	990	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459918562 CA373051554	992	F>S		No	ClinGen gnomAD
CA190585208 rs1005448022	992	F>V		No	ClinGen Ensembl
CA373051558 rs1254976661	993	L>F		No	ClinGen TOPMed gnomAD
CA373051575 rs1171956981	995	M>I		No	ClinGen gnomAD
CA5007378 rs765657638	995	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5007379 rs770317426	996	K>E		No	ClinGen ExAC gnomAD
CA190585220 rs370035774	996	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373051589 rs1170928105	997	E>G		No	ClinGen gnomAD
rs769381927 CA5007382	1001	M>L		No	ClinGen ExAC TOPMed gnomAD
rs769381927 CA5007383	1001	M>V		No	ClinGen ExAC TOPMed gnomAD
CA373051628 rs1371137485	1003	L>F		No	ClinGen TOPMed gnomAD
CA373051630 rs1442224356	1003	L>P		No	ClinGen TOPMed gnomAD
rs1442224356 CA373051631	1003	L>R		No	ClinGen TOPMed gnomAD
rs1371137485 CA373051627	1003	L>V		No	ClinGen TOPMed gnomAD
CA373051637 rs1274759528	1004	D>G		No	ClinGen gnomAD
CA5007384 rs762164762	1005	T>I		No	ClinGen ExAC gnomAD
CA373051647 rs1216686135	1006	L>F		No	ClinGen TOPMed gnomAD
CA5007386 rs750869006	1007	L>F		No	ClinGen ExAC gnomAD
rs768123684 CA5007385	1007	L>M		No	ClinGen ExAC TOPMed gnomAD
rs760847162 CA5007387	1008	V>F		No	ClinGen ExAC TOPMed gnomAD
CA373051665 rs1275082320	1009	I>S		No	ClinGen gnomAD
CA373051668 rs1389650077	1010	V>M		No	ClinGen TOPMed gnomAD
rs755263450 CA5007391	1011	D>E		No	ClinGen ExAC gnomAD
CA5007389 RCV000970201 rs75465271	1011	D>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5007388 rs766397020	1011	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA373051691 rs1476387936	1013	H>R		No	ClinGen gnomAD
rs137931934 CA5007392	1014	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5007393 rs373494956	1015	Q>R		No	ClinGen ESP ExAC gnomAD
CA373051712 rs1405911123	1016	P>H		No	ClinGen TOPMed
rs1394830103 CA373051719	1017	R>T		No	ClinGen gnomAD
rs1361618312 CA373051725	1018	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746952911 CA5007396	1018	G>R		No	ClinGen ExAC TOPMed gnomAD
CA373051734 rs757172095	1019	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA373051744 rs1348634205	1021	L>F		No	ClinGen gnomAD
rs377621697 CA5007398	1023	W>*		No	ClinGen ESP ExAC gnomAD
rs1340328087 CA373051761	1023	W>C		No	ClinGen gnomAD
CA373051762 rs1216974667	1024	F>V		No	ClinGen gnomAD
rs1175855098 CA373052224	1027	K>N		No	ClinGen gnomAD
CA5007428 rs753565329	1029	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5007427 rs753565329	1029	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA373052246 rs1447603983	1031	G>A		No	ClinGen gnomAD
CA5007429 rs149475401	1031	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374284178 CA373052257	1033	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs374284178 CA5007430	1033	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs751380550 CA5007432	1035	A>G		No	ClinGen ExAC TOPMed gnomAD
CA373052269 rs1236416124	1035	A>T		No	ClinGen TOPMed gnomAD
rs761659661 CA5007434	1036	S>C		No	ClinGen ExAC TOPMed gnomAD
rs761659661 CA5007433	1036	S>G		No	ClinGen ExAC TOPMed gnomAD
rs530078740 CA190588017	1037	A>G		No	ClinGen 1000Genomes gnomAD
CA373052280 rs1252186435	1037	A>T		No	ClinGen gnomAD
CA190588046 rs372695586	1038	I>V		No	ClinGen ESP TOPMed gnomAD
rs374566486 CA5007437	1040	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779560070 CA5007438	1040	R>H		No	ClinGen ExAC TOPMed gnomAD
rs374566486 CA373052297	1040	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753329885 CA190588092	1041	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5007439 rs753329885	1041	S>F		No	ClinGen ExAC TOPMed gnomAD
rs538975730 CA5007440	1042	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA373052311 rs1171260109	1043	A>P		No	ClinGen TOPMed gnomAD
CA5007444 rs781656797	1044	A>G		No	ClinGen ExAC gnomAD
CA5007442 rs552730221	1044	A>S		No	ClinGen 1000Genomes ExAC gnomAD
COSM1255755 rs552730221 CA5007443	1044	A>T	Variant assessed as Somatic; 0.0 impact. oesophagus breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs746401355 CA5007445	1045	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5007446 rs746401355	1045	T>R		No	ClinGen ExAC TOPMed gnomAD
CA373052327 rs1587641635	1046	A>G		No	ClinGen Ensembl
CA190588153 rs866173999	1046	A>T		No	ClinGen Ensembl
rs1330591746 CA373052331	1047	L>S		No	ClinGen TOPMed
CA190588161 rs1003728305	1048	S>T		No	ClinGen gnomAD
rs768822931 CA5007449	1048	S>Y		No	ClinGen ExAC gnomAD
rs774615177 CA190588238	1050	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774615177 CA5007450	1050	L>V		No	ClinGen ExAC TOPMed gnomAD
rs761549754 CA5007451	1051	V>A		No	ClinGen ExAC gnomAD
CA373052349 rs1564166120	1051	V>L		No	ClinGen Ensembl
CA5007453 rs143958174	1052	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007456 rs533621069	1053	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373052373 rs148234430	1055	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007457 rs148234430	1055	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA373052382 rs1587641800	1056	I>T		No	ClinGen Ensembl
rs1178503536 COSM351869 CA373052394	1058	C>Y	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA5007459 rs754497159	1059	K>E		No	ClinGen ExAC gnomAD
CA5007460 rs778479351	1061	K>E		No	ClinGen ExAC gnomAD
rs752426512 CA5007461	1062	V>F		No	ClinGen ExAC gnomAD
CA5007462 rs752426512	1062	V>L		No	ClinGen ExAC gnomAD
rs746170059 CA5007464	1063	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5007463 rs781702073	1063	E>K		No	ClinGen ExAC TOPMed gnomAD
rs141796203 CA5007465	1065	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1287959663 CA373052446	1066	L>V		No	ClinGen TOPMed
CA5007467 rs371928064	1067	N>S		No	ClinGen ESP ExAC gnomAD
rs146270106 CA5007468	1068	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1360243668 CA373052469	1069	L>R		No	ClinGen TOPMed
CA373052479 rs1237815608	1071	A>G		No	ClinGen TOPMed
CA5007470 rs762041690	1071	A>S		No	ClinGen ExAC gnomAD
rs772221678 CA5007471	1072	R>T		No	ClinGen ExAC gnomAD
rs536216899 CA5007473	1073	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1264369680 CA373052498	1074	P>L		No	ClinGen gnomAD
rs1208615870 CA373052502	1075	G>E		No	ClinGen gnomAD
CA190588406 rs748178549	1076	K>*		No	ClinGen Ensembl
rs766361366 CA5007475	1080	D>V		No	ClinGen ExAC TOPMed gnomAD
rs776608645 CA5007476	1082	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1564166419 CA373052552	1083	Q>K		No	ClinGen Ensembl
CA5007479 rs143564901	1085	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000935121 CA5007478 rs143564901	1085	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5007480 rs758130282	1086	Q>E		No	ClinGen ExAC gnomAD
CA5007481 rs375267140	1087	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1026358807 CA190588526	1088	H>Q		No	ClinGen TOPMed
CA5007483 rs576275833	1089	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs750879558 CA5007482	1089	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1276649276 CA373052609	1092	A>T		No	ClinGen gnomAD
TCGA novel	1093	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296179660 CA373052624	1094	G>A		No	ClinGen gnomAD
CA5007485 rs749828283	1094	G>R		No	ClinGen ExAC gnomAD
CA373052633 rs1564166539	1095	M>I		No	ClinGen Ensembl
rs1438332934 CA373052654	1098	S>F		No	ClinGen TOPMed
CA5007487 rs779060459	1099	R>C		No	ClinGen ExAC TOPMed gnomAD
CA190588561 rs779060459	1099	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200667588 CA5007488	1099	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373052671 rs1488939860	1101	C>F		No	ClinGen gnomAD
rs1261491694 CA373052678	1102	E>G		No	ClinGen gnomAD
rs1587642334 CA373052701	1105	L>R		No	ClinGen Ensembl
CA190592304 rs1003079092	1107	D>G		No	ClinGen TOPMed gnomAD
rs374327997 CA5007507	1107	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007508 rs747254274	1108	I>V		No	ClinGen ExAC gnomAD
CA373052740 rs1372019974	1109	S>C		No	ClinGen TOPMed
rs1443484556 CA373052737	1109	S>P		No	ClinGen TOPMed
CA373052745 rs1357056522	1110	G>D		No	ClinGen gnomAD
rs1463208912 CA373052751	1111	Q>P		No	ClinGen gnomAD
CA5007510 RCV000948813 rs147046649	1112	E>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs955690824 CA190592318	1112	E>Q		No	ClinGen TOPMed
CA5007512 rs769825238	1113	M>I		No	ClinGen ExAC gnomAD
CA373052763 rs1446634808	1113	M>V		No	ClinGen gnomAD
rs762588378 CA5007514	1114	N>K		No	ClinGen ExAC gnomAD
rs537154221 CA5007513	1114	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1390973650 CA373052781	1115	L>R		No	ClinGen TOPMed
CA373052802 rs1278378152	1119	K>Q		No	ClinGen gnomAD
rs768308950 CA5007516	1120	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA373052832 rs985270682	1123	A>D		No	ClinGen TOPMed gnomAD
CA190592382 rs780868647	1123	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA190592390 rs985270682	1123	A>V		No	ClinGen TOPMed gnomAD
rs1196877320 CA373052836	1124	L>Q		No	ClinGen gnomAD
rs1265314576 CA373052845	1125	E>D		No	ClinGen Ensembl
rs1564171238 CA373052843	1125	E>G		No	ClinGen Ensembl
rs1337361536 CA373052852	1126	N>I		No	ClinGen gnomAD
rs145248690 CA5007520	1131	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007521 rs145248690	1131	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs765823878 CA5007522	1131	T>S		No	ClinGen ExAC gnomAD
rs753172966 CA5007523	1132	S>N		No	ClinGen ExAC gnomAD
TCGA novel	1132	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5007524 rs758863091	1134	E>D		No	ClinGen ExAC gnomAD
rs868093215 CA190607775 CA373052936	1136	N>K		No	ClinGen Ensembl
COSM608506 CA373052918 rs1327401294	1136	N>Y	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5007545 rs377675732	1137	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA373052946 rs1216998240	1138	G>A		No	ClinGen gnomAD
rs756306286 CA5007547	1139	C>Y		No	ClinGen ExAC gnomAD
rs144863468 CA5007548	1140	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA373052959 rs1473833429	1140	I>M		No	ClinGen Ensembl
CA5007549 rs144863468	1140	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA190607798 rs1016419534	1142	G>R		No	ClinGen Ensembl
rs778983245 CA5007551	1143	V>G		No	ClinGen ExAC TOPMed gnomAD
CA5007550 rs755036664	1143	V>I		No	ClinGen ExAC TOPMed gnomAD
CA190607825 rs146592449	1145	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5007553 rs146592449	1145	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5007554 rs772739367	1146	V>A		No	ClinGen ExAC TOPMed gnomAD
CA373052986 rs1393259548	1146	V>I		No	ClinGen TOPMed gnomAD
CA373052987 rs1393259548	1146	V>L		No	ClinGen TOPMed gnomAD
CA373052995 rs1244315277	1147	L>P		No	ClinGen TOPMed
CA373052992 rs1422071736	1147	L>V		No	ClinGen gnomAD
rs1442242088 CA373053010	1150	M>V		No	ClinGen TOPMed
CA190607867 rs996436006	1151	S>N		No	ClinGen TOPMed gnomAD
rs775898933 CA5007557	1152	H>R		No	ClinGen ExAC
rs566568108 CA5007558	1153	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780886424 CA5007560	1154	S>I		No	ClinGen ExAC gnomAD
rs141832071 CA5007561	1155	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA373053062 rs1378935659	1157	Q>E		No	ClinGen gnomAD
rs1429792977 CA373053066	1157	Q>H		No	ClinGen gnomAD
rs188287490 CA5007562	1157	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5007563 rs367733127	1159	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs367733127 CA5007564	1159	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007565 rs766708794	1159	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5007567 rs143827982	1160	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143827982 CA373053078	1160	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147970895 CA5007568	1161	H>P		No	ClinGen ESP ExAC gnomAD
rs758307173 CA5007570	1162	V>I		No	ClinGen ExAC TOPMed gnomAD
rs758307173 CA373053090	1162	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1419563560 CA373053094	1163	A>T		No	ClinGen TOPMed
rs1179837131 CA373053099	1163	A>V		No	ClinGen TOPMed gnomAD
rs746524324 CA5007572	1165	L>F		No	ClinGen ExAC gnomAD
CA5007571 rs777152394	1165	L>S		No	ClinGen ExAC TOPMed gnomAD
CA373053114 rs1403163727	1166	L>H		No	ClinGen gnomAD
rs140712285 CA5007574	1167	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140712285 CA5007575	1167	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs544133636 CA5007573	1167	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5007576 rs371132180	1168	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007577 rs774725502	1169	L>Q		No	ClinGen ExAC gnomAD
rs762236544 COSM1107738 CA5007578	1171	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA373053145 rs1275238612	1172	H>P		No	ClinGen TOPMed gnomAD
rs577734628 CA5007580	1172	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs150113844 CA5007582	1173	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs150113844 CA373053149	1173	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs754083435 CA5007583	1176	S>R		No	ClinGen ExAC gnomAD
rs755212646 CA373053174	1176	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1179	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752479699 CA5007586	1180	S>G		No	ClinGen ExAC TOPMed gnomAD
CA190608158 rs907926977	1181	R>G		No	ClinGen TOPMed gnomAD
rs138621144 CA373053213	1182	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5007587 COSM1643799 rs138621144	1182	T>M	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5007589 rs751117865	1183	F>S		No	ClinGen ExAC gnomAD
rs1174521193 CA373053223	1184	Q>E		No	ClinGen gnomAD
rs776980948 CA5007609	1186	V>I		No	ClinGen ExAC TOPMed gnomAD
rs780689560 CA5007610	1187	L>F		No	ClinGen ExAC gnomAD
rs779747802 CA5007613	1189	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA373053278 rs1359434074	1190	T>I		No	ClinGen gnomAD
CA190610381 rs372887152	1191	L>F		No	ClinGen ESP
rs1195477693 CA373053285	1192	S>G		No	ClinGen TOPMed
rs1265804918 CA373053289	1192	S>N		No	ClinGen TOPMed gnomAD
CA373053295 rs778245215	1193	C>F		No	ClinGen ExAC TOPMed gnomAD
rs558961881 CA5007615	1193	C>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5007616 rs778245215	1193	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1259970967 CA373053300	1194	V>L		No	ClinGen TOPMed gnomAD
CA5007618 rs148685443	1195	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs902461397 CA190610413	1196	T>A		No	ClinGen TOPMed
rs776856413 CA5007619	1196	T>I		No	ClinGen ExAC gnomAD
rs769958945 CA5007621	1197	S>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1197	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5007622 rs775748154	1198	A>V		No	ClinGen ExAC gnomAD
rs751295588 CA373053337	1200	S>I		No	ClinGen ExAC TOPMed gnomAD
CA5007625 rs751295588	1200	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1380976085 CA373053340	1201	A>T		No	ClinGen gnomAD
rs1396096881 CA373053344	1201	A>V		No	ClinGen gnomAD
CA5007626 rs142629368	1204	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA190610443 rs1054865115	1205	E>K		No	ClinGen TOPMed
CA5007627 rs767434997	1206	A>T		No	ClinGen ExAC
rs1382609264 CA373053376	1206	A>V		No	ClinGen gnomAD
CA5007628 rs534687975	1207	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA373053381 rs1288534352	1207	T>I		No	ClinGen gnomAD
rs765989756 CA5007630	1209	A>T		No	ClinGen ExAC gnomAD
rs1259178318 CA373053408	1211	D>V		No	ClinGen gnomAD
rs1564189983 CA373053413	1212	V>I		No	ClinGen Ensembl
rs754538814 CA5007633 CA5007632	1213	M>I		No	ClinGen ExAC TOPMed gnomAD
CA5007631 rs199890434	1213	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747311160 CA5007634	1217	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs757895525 CA373053447	1217	R>L		No	ClinGen ExAC TOPMed gnomAD
rs757895525 CA5007635	1217	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA190610550 rs989262546	1218	L>M		No	ClinGen TOPMed
rs1442657026 CA373053449	1218	L>Q		No	ClinGen TOPMed gnomAD
CA190610574 rs966389745	1223	S>R		No	ClinGen TOPMed gnomAD
CA5007637 rs543741324	1224	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1258802048 CA373053528	1228	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774537266 CA5007664	1228	G>R		No	ClinGen ExAC TOPMed gnomAD
CA373053546 rs1488665170	1231	L>P		No	ClinGen gnomAD
rs771888442 CA5007666	1231	L>V		No	ClinGen ExAC gnomAD
CA373053552 rs371639137	1232	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA373053548 rs1430974349	1232	A>T		No	ClinGen TOPMed
rs371639137 CA5007667	1232	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007668 rs760676647	1235	N>D		No	ClinGen ExAC gnomAD
rs1170689611 CA373053574	1236	I>V		No	ClinGen gnomAD
CA373053581 rs1418203044	1237	V>L		No	ClinGen gnomAD
rs766165600 CA5007669	1238	H>R		No	ClinGen ExAC gnomAD
rs753556258 CA190611991	1239	G>A		No	ClinGen TOPMed gnomAD
rs753556258 CA373053597	1239	G>V		No	ClinGen TOPMed gnomAD
CA190611996 rs973542753	1240	L>S		No	ClinGen TOPMed gnomAD
rs1203466979 CA373053608	1241	S>C		No	ClinGen TOPMed
rs758945973 CA373053611 CA5007671	1242	V>L		No	ClinGen ExAC TOPMed gnomAD
rs765022532 CA5007672	1243	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1278873007 CA373053625	1244	G>E		No	ClinGen gnomAD
CA373053622 rs1402118114	1244	G>R		No	ClinGen gnomAD
rs200825871 CA5007674	1245	H>P		No	ClinGen ExAC TOPMed gnomAD
CA5007675 rs200825871	1245	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1247	K>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1564191834 CA373053644	1247	K>I		No	ClinGen Ensembl
CA373053648 rs1322314061	1248	A>T		No	ClinGen gnomAD
rs750684916 CA5007676	1248	A>V		No	ClinGen ExAC gnomAD
CA190612095 rs1050043725	1250	D>G		No	ClinGen Ensembl
CA5007677 rs756707091	1250	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5007678 rs202218833	1251	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1026657127 CA373053676	1252	G>A		No	ClinGen TOPMed
CA373053674 rs888872975	1252	G>C		No	ClinGen TOPMed gnomAD
CA373053675 rs1026657127	1252	G>D		No	ClinGen TOPMed
CA190612102 rs888872975	1252	G>S		No	ClinGen TOPMed gnomAD
CA190612103 rs1026657127	1252	G>V		No	ClinGen TOPMed
rs148495154 CA5007679	1253	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1254	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778926582 CA5007681	1256	L>F		No	ClinGen ExAC gnomAD
CA190612129 rs552496171	1256	L>P		No	ClinGen gnomAD
rs552496171 CA373053700	1256	L>R		No	ClinGen gnomAD
CA373053706 rs1564191952	1257	P>L		No	ClinGen Ensembl
rs748395149 CA5007682	1258	A>P		No	ClinGen ExAC TOPMed gnomAD
rs772225743 CA5007683	1259	W>C		No	ClinGen ExAC gnomAD
CA5007684 rs184087722	1260	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA190612156 rs943731655	1261	R>S		No	ClinGen TOPMed
rs746776742 CA5007685	1261	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1428704036 CA373053731	1262	I>L		No	ClinGen gnomAD
TCGA novel	1262	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373053744 rs1286040104	1264	L>I		No	ClinGen gnomAD
rs1183457955 CA373053747	1264	L>P		No	ClinGen TOPMed
rs1183457955 CA373053746	1264	L>Q		No	ClinGen TOPMed
CA5007687 rs770959719	1265	T>A		No	ClinGen ExAC
rs1278950675 CA373053777	1267	G>D		No	ClinGen gnomAD
CA373053774 rs1201843058	1267	G>S		No	ClinGen gnomAD
rs775202879 CA5007708	1268	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5007710 rs768401385	1269	P>R		No	ClinGen ExAC TOPMed gnomAD
CA5007709 rs544335294	1269	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5007711 rs564629674	1270	T>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1275900436 CA373053800	1271	M>I		No	ClinGen Ensembl
CA5007712 rs761488410	1271	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5007713 rs766679657	1273	C>F		No	ClinGen ExAC gnomAD
CA373053816 rs1439116863	1274	L>V		No	ClinGen TOPMed
rs1273062948 CA373053831	1276	A>V		No	ClinGen TOPMed
rs1468754247 CA373053834	1277	L>F		No	ClinGen TOPMed gnomAD
rs1468754247 CA373053832	1277	L>I		No	ClinGen TOPMed gnomAD
rs776926927 CA5007714	1278	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1430294536 CA373053840	1278	H>Y		No	ClinGen gnomAD
CA373053850 rs1166091001	1279	G>V		No	ClinGen gnomAD
rs887582957 CA190612674	1280	M>I		No	ClinGen Ensembl
CA190612671 rs760042366	1280	M>L		No	ClinGen ExAC gnomAD
rs1290174545 CA373053854	1280	M>R		No	ClinGen TOPMed
rs760042366 CA5007715	1280	M>V		No	ClinGen ExAC gnomAD
rs371299684 CA190612678	1281	V>A		No	ClinGen Ensembl
CA373053858 rs1248635602	1281	V>L		No	ClinGen TOPMed
rs965510356 CA190612679	1282	A>P		No	ClinGen TOPMed
TCGA novel	1284	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs997971497 CA190612680	1284	V>I		No	ClinGen TOPMed
CA5007716 rs765729034	1286	S>P		No	ClinGen ExAC gnomAD
CA190612687 rs953718788	1288	G>E		No	ClinGen TOPMed gnomAD
CA5007717 CA373053899 rs142840404	1288	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs978664895 CA190612703	1289	D>E		No	ClinGen TOPMed gnomAD
CA5007718 rs758451507	1289	D>G		No	ClinGen ExAC TOPMed gnomAD
CA373053906 rs758451507	1289	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1289	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200999259 CA5007739	1293	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459388509 CA373053951	1294	K>I		No	ClinGen gnomAD
rs1007557420 CA190613205	1296	E>G		No	ClinGen Ensembl
CA373053971 rs1257139141	1297	A>G		No	ClinGen TOPMed
CA190613207 rs1039627688	1299	Q>E		No	ClinGen Ensembl
CA373053982 rs1364760124	1299	Q>P		No	ClinGen gnomAD
TCGA novel	1302	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5007743 rs779957884	1302	H>R		No	ClinGen ExAC gnomAD
CA373054036 rs1381149828	1307	L>V		No	ClinGen gnomAD
rs761461836 CA5007746	1308	N>I		No	ClinGen ExAC gnomAD
CA5007745 rs761461836	1308	N>S		No	ClinGen ExAC gnomAD
rs747690917 CA5007747	1309	E>K		No	ClinGen ExAC gnomAD
rs772830056 CA5007749	1311	I>V		No	ClinGen ExAC gnomAD
rs1359128758 CA373054066	1312	R>G		No	ClinGen gnomAD
CA5007750 rs746273414	1315	T>I		No	ClinGen ExAC gnomAD
rs1300283980 CA373054095	1316	Q>R		No	ClinGen TOPMed
CA190614217 rs927429411	1318	I>V		No	ClinGen Ensembl
rs752198988 CA5007765	1319	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1408469384 CA373054137	1321	S>A		No	ClinGen gnomAD
rs1156452693 CA373054146	1322	G>A		No	ClinGen gnomAD
rs1469852567 CA373054148	1323	V>L		No	ClinGen gnomAD
rs1469852567 CA373054150	1323	V>M		No	ClinGen gnomAD
rs746676362 CA5007768	1325	G>D		No	ClinGen ExAC gnomAD
rs777227231 CA5007767	1325	G>R		No	ClinGen ExAC TOPMed gnomAD
rs770504539 CA5007769	1326	L>H		No	ClinGen ExAC gnomAD
CA373054172 rs1374487788	1327	Q>*		No	ClinGen gnomAD
CA5007770 rs765927070	1328	S>*		No	ClinGen ExAC TOPMed gnomAD
rs1305129996 CA373054195	1330	A>G		No	ClinGen gnomAD
rs140849300 CA5007772	1331	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5007771 rs749647717	1331	V>F		No	ClinGen ExAC TOPMed gnomAD
CA373054198 rs749647717	1331	V>L		No	ClinGen ExAC TOPMed gnomAD
rs774887296 CA5007773	1332	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1057511734 CA190614260	1333	L>F		No	ClinGen gnomAD
rs1321275022 CA373054211	1333	L>R		No	ClinGen gnomAD
CA373054233 rs1206509162	1336	H>Q		No	ClinGen gnomAD
rs762183589 CA5007774	1338	H>L		No	ClinGen ExAC gnomAD
rs772303153 CA5007775	1339	L>V		No	ClinGen ExAC gnomAD
CA5007776 rs773369583	1340	S>A		No	ClinGen ExAC gnomAD
CA373054257 rs1564195474	1341	T>A		No	ClinGen Ensembl
CA373054261 rs1480560396	1341	T>I		No	ClinGen gnomAD
rs751117225 CA190614286	1342	L>P		No	ClinGen Ensembl
CA190614281 rs945751160	1342	L>V		No	ClinGen Ensembl
CA373054276 rs1466779915	1344	S>L		No	ClinGen gnomAD
rs943198469 CA190614307	1347	S>T		No	ClinGen TOPMed
rs1212615688 CA373054304	1348	R>I		No	ClinGen gnomAD
rs766707231 CA5007779	1349	A>S		No	ClinGen ExAC TOPMed gnomAD
rs766707231 CA5007778	1349	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5007780 rs377220966	1350	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA5007781 rs765129889	1351	V>F		No	ClinGen ExAC gnomAD
CA373054316 rs765129889	1351	V>I		No	ClinGen ExAC gnomAD
rs1212760829 CA373054339	1353	T>A		No	ClinGen gnomAD
CA373054338 rs1212760829	1353	T>P		No	ClinGen gnomAD
CA373054356 rs1241507362	1355	Y>C		No	ClinGen TOPMed
CA373054361 rs1317142057	1356	S>G		No	ClinGen TOPMed gnomAD
rs995594020 CA190615470	1357	Y>C		No	ClinGen TOPMed gnomAD
CA5007803 rs756726577	1359	P>L		No	ClinGen ExAC gnomAD
rs751115628 CA5007802	1359	P>T		No	ClinGen ExAC gnomAD
rs1215800649 CA373054386	1360	E>K		No	ClinGen gnomAD
rs766894931 CA5007804	1362	S>G		No	ClinGen ExAC gnomAD
rs932687503 CA190615498	1364	I>L		No	ClinGen Ensembl
TCGA novel	1366	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373054437 rs1187191697	1367	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA373054440 rs1587706883	1367	A>V		No	ClinGen Ensembl
CA5007807 rs545081699	1368	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5007809 COSM71332 rs535565536	1369	G>D	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs748522976 CA5007808	1369	G>S		No	ClinGen ExAC gnomAD
CA373054471 rs1345361662	1372	I>T		No	ClinGen TOPMed
rs3206852 VAR_061251 CA5007811	1373	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3206852 VAR_037881 CA190615533	1373	T>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3206852 CA190615538 VAR_061252	1373	T>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1219368866 CA373054478	1374	G>R		No	ClinGen TOPMed
rs771075968 CA5007812 COSM608503 COSM1107741	1375	G>R	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA373054486 rs1428774584	1375	G>V		No	ClinGen gnomAD
rs1384866079 CA373054489	1376	K>*		No	ClinGen gnomAD
CA5007813 rs776526405	1376	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5007814 rs746105814	1378	G>S		No	ClinGen ExAC gnomAD
rs887086186	1378	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs116541636 CA373054519	1379	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373054522 rs1412497107	1379	P>L		No	ClinGen TOPMed
rs116541636 CA5007851 RCV000914472	1379	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5007852 rs756175654	1382	V>L		No	ClinGen ExAC TOPMed gnomAD
CA373054537 rs756175654	1382	V>M		No	ClinGen ExAC TOPMed gnomAD
CA373054543 rs1173027872	1383	P>S		No	ClinGen TOPMed
CA373054542 rs1173027872	1383	P>T		No	ClinGen TOPMed
rs979461809 CA190575439	1384	P>H		No	ClinGen TOPMed gnomAD
CA373054552 rs979461809	1384	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA373054557 rs1475716580	1385	S>F		No	ClinGen gnomAD
CA373054567 rs1167052154	1387	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749522212 CA5007855	1390	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1391	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5007857 rs560918983	1391	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs768797545 CA5007856	1391	M>T		No	ClinGen ExAC TOPMed gnomAD
rs747886176 CA5007858	1394	I>M		No	ClinGen ExAC gnomAD
rs1297110728 CA373054612	1394	I>V		No	ClinGen gnomAD
rs1228822307 CA373054620	1395	A>E		No	ClinGen TOPMed gnomAD
rs1464234495 CA373054617	1395	A>P		No	ClinGen Ensembl
TCGA novel	1395	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772100076 CA5007859	1396	T>A		No	ClinGen ExAC gnomAD
CA190575487 rs897587445	1397	V>I		No	ClinGen TOPMed gnomAD
COSM1193831 CA5007860 rs772997220	1398	G>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA373054633 rs1292700707	1398	G>R		No	ClinGen gnomAD
rs147846255 CA373054665	1402	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1461739 CA5007861 rs147846255	1402	Q>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1564230897 CA373054673	1403	Y>C		No	ClinGen Ensembl
rs964326404 CA190575506	1403	Y>H		No	ClinGen Ensembl
CA373054686 rs759268502	1405	P>L		No	ClinGen ExAC TOPMed gnomAD
rs759268502 CA5007865	1405	P>R		No	ClinGen ExAC TOPMed gnomAD
CA5007866 rs764967775	1406	V>M		No	ClinGen ExAC gnomAD
rs1163999096 CA373054720	1410	A>V		No	ClinGen gnomAD
rs1456094620 CA373054725	1411	L>P		No	ClinGen gnomAD
CA373054729 rs1564231019	1412	L>F		No	ClinGen Ensembl
rs1290066179 CA373054732	1412	L>P		No	ClinGen gnomAD
rs368212581 CA5007869	1414	P>S		No	ClinGen ESP ExAC gnomAD
CA190575555 rs375258578	1415	L>F		No	ClinGen ESP
rs750912134 CA373054746	1415	L>H		No	ClinGen ExAC TOPMed gnomAD
CA5007870 rs750912134	1415	L>P		No	ClinGen ExAC TOPMed gnomAD
rs756583849 CA5007871	1416	M>T		No	ClinGen ExAC TOPMed gnomAD
rs753913044 CA373054757	1417	R>K		No	ClinGen ExAC TOPMed gnomAD
rs753913044 CA5007873	1417	R>T		No	ClinGen ExAC TOPMed gnomAD
CA5007872 rs369192863	1417	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA373054764 rs1374210014	1418	L>P		No	ClinGen TOPMed gnomAD
CA5007874 rs755254386	1420	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA373054796 rs1464809420	1421	G>D		No	ClinGen TOPMed gnomAD
CA373054798 rs1464809420	1421	G>V		No	ClinGen TOPMed gnomAD
CA373054809 rs1300273380	1423	E>Q		No	ClinGen gnomAD
rs781240550 CA5007901	1424	I>F		No	ClinGen ExAC gnomAD
rs781240550 CA5007900	1424	I>V		No	ClinGen ExAC gnomAD
rs769447010 CA5007902	1426	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1224278160 CA373054849	1429	L>F		No	ClinGen gnomAD
CA373054854 rs1300489392	1430	E>K		No	ClinGen gnomAD
rs775005886 CA5007903	1431	I>N		No	ClinGen ExAC gnomAD
TCGA novel	1431	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206306206 CA373054870	1432	M>V		No	ClinGen gnomAD
TCGA novel	1434	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482632342 CA373054900	1436	A>E		No	ClinGen TOPMed gnomAD
CA373054901 rs1482632342	1436	A>G		No	ClinGen TOPMed gnomAD
rs1270677406 CA373054906	1437	Q>L		No	ClinGen gnomAD
rs1270677406 CA373054908	1437	Q>R		No	ClinGen gnomAD
rs773509020 CA5007907	1439	S>F		No	ClinGen ExAC gnomAD
CA5007908 rs761007246	1440	Q>K		No	ClinGen ExAC gnomAD
CA373054935 rs1431983069	1441	N>K		No	ClinGen gnomAD
CA373054938 rs1172931461	1442	A>S		No	ClinGen gnomAD
rs1187623385 CA373054944	1443	A>D		No	ClinGen Ensembl
rs766913708 CA5007910	1443	A>P		No	ClinGen ExAC gnomAD
rs766913708 CA5007909	1443	A>S		No	ClinGen ExAC gnomAD
rs959511124 CA190577104	1444	A>V		No	ClinGen Ensembl
rs1564233968 COSM3675310 CA373054975	1448	L>F	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs752759617 CA5007913	1449	W>L		No	ClinGen ExAC gnomAD
CA5007914 rs752759617	1449	W>S		No	ClinGen ExAC gnomAD
rs918199690 CA190577132	1450	V>M		No	ClinGen Ensembl
rs1564233997 CA373054994	1451	T>I		No	ClinGen Ensembl
rs1209385485 CA373054996	1452	P>A		No	ClinGen TOPMed
rs539891251 CA5007915	1452	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5007916 rs149031092	1455	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757145425 CA373055017	1456	H>N		No	ClinGen ExAC TOPMed gnomAD
rs757145425 CA5007917	1456	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs781080654 CA5007918	1457	S>R		No	ClinGen ExAC gnomAD
CA373055028 rs1326832518	1457	S>T		No	ClinGen TOPMed
rs1220139313 CA373055041	1459	S>N		No	ClinGen gnomAD
CA5007941 rs753329767	1463	K>E		No	ClinGen ExAC TOPMed gnomAD
CA373055079 COSM182868 rs1443542288	1463	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs754547965 CA5007942	1463	K>R		No	ClinGen ExAC gnomAD
CA373055085 rs778238064	1464	R>S		No	ClinGen ExAC TOPMed gnomAD
CA190579693 rs997558452	1464	R>T		No	ClinGen Ensembl
rs146688353 CA5007944	1465	Y>C		No	ClinGen ESP ExAC TOPMed
rs1402597612 CA373055096	1466	L>F		No	ClinGen TOPMed
CA373055102 rs1282053008	1467	L>Q		No	ClinGen TOPMed gnomAD
CA373055107 rs1439437052	1468	I>L		No	ClinGen gnomAD
rs1375092633 CA373055119	1470	A>P		No	ClinGen gnomAD
rs1375092633 CA373055120	1470	A>S		No	ClinGen gnomAD
COSM1107748 rs781606770 CA5007946	1470	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5007948 rs770241484	1471	P>L		No	ClinGen ExAC gnomAD
rs140273318 CA5007947	1471	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1207351989 CA373055128	1472	L>V		No	ClinGen gnomAD
rs763315217 CA5007950	1477	I>M		No	ClinGen ExAC gnomAD
rs776093412 CA5007949	1477	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1182930182 TCGA novel CA373055197	1481	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA5007951 rs774784033	1484	G>R		No	ClinGen ExAC TOPMed gnomAD
rs774505828 CA5007954	1486	V>A		No	ClinGen ExAC gnomAD
CA5007953 rs774505828	1486	V>D		No	ClinGen ExAC gnomAD
CA5007955 COSM1107750 rs767837040	1487	E>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA190579849 rs1006226964	1489	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5007957 COSM161956 rs760490444	1490	M>I	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs773188918 CA5007956	1490	M>T		No	ClinGen ExAC gnomAD
CA190579866 rs1016402191	1494	F>I		No	ClinGen Ensembl
CA5007958 rs766049519	1496	A>P		No	ClinGen ExAC gnomAD
CA373055289 rs766049519	1496	A>T		No	ClinGen ExAC gnomAD
CA373055307 rs117591845	1499	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373055309 rs1224879597	1499	P>R		No	ClinGen gnomAD
rs117591845 RCV000900058 CA5007959	1499	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1587777883 CA373055337	1504	E>K		No	ClinGen Ensembl
CA373055350 rs1285678404	1506	C>R		No	ClinGen gnomAD
CA373055362 rs1346332051	1507	P>R		No	ClinGen gnomAD
CA373055359 rs1351850591	1507	P>S		No	ClinGen TOPMed
CA373055364 rs1200195004	1508	S>R		No	ClinGen gnomAD
rs137979880 CA5007960	1508	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1509	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772225318 CA190579896	1509	A>S		No	ClinGen Ensembl
CA5007962 rs752202420	1510	L>S		No	ClinGen ExAC gnomAD
CA373055392 rs187249342	1512	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA190579943 rs187249342	1512	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5007964 rs761225354	1512	G>S		No	ClinGen ExAC gnomAD
CA5007965 RCV000902510 rs187249342	1512	G>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs968468643 CA190579953	1513	L>M		No	ClinGen Ensembl
CA5007966 rs150165699	1514	S>N		No	ClinGen ESP ExAC gnomAD
CA373055405 rs1344289475	1515	Q>E		No	ClinGen TOPMed
rs769039542 CA5007970	1515	Q>H		No	ClinGen ExAC gnomAD
rs749801837 CA5007968	1515	Q>R		No	ClinGen ExAC gnomAD
rs748216244 CA5007971	1516	A>T		No	ClinGen ExAC gnomAD
CA5007972 rs772465371	1517	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA373055424 rs1406173158	1518	K>E		No	ClinGen gnomAD
rs773600474 CA5007974	1518	K>N		No	ClinGen ExAC gnomAD
CA5007975 rs537888247	1520	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs367988293 CA5007977	1521	S>I		No	ClinGen ExAC TOPMed gnomAD
rs367988293 COSM3382494 CA190580023	1521	S>N	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765149769 CA5007978	1521	S>R		No	ClinGen ExAC gnomAD
TCGA novel	1522	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373055451 rs1343087073	1523	A>T		No	ClinGen TOPMed
CA373055472 rs1482201501 CA373055471	1525	H>Q		No	ClinGen TOPMed gnomAD
rs931954541 CA190580025	1527	W>R		No	ClinGen TOPMed
rs1430055425 CA373055505	1530	L>P		No	ClinGen TOPMed
rs1487390415 CA373055510	1531	S>C		No	ClinGen TOPMed
CA373055513 rs1241780706	1532	E>Q		No	ClinGen TOPMed
rs1216896063 CA373055524	1533	A>G		No	ClinGen TOPMed
rs1196657370 CA373055541	1536	K>T		No	ClinGen gnomAD
rs763542473 CA373055567	1539	D>E		No	ClinGen ExAC gnomAD
rs1374776887 CA373055561	1539	D>N		No	ClinGen gnomAD
CA190580044 rs976980589	1540	L>F		No	ClinGen Ensembl
rs1167730612 CA373055578	1541	L>R		No	ClinGen gnomAD
CA373055582 rs1187577513	1542	P>R		No	ClinGen gnomAD
CA5007983 rs751234813	1542	P>S		No	ClinGen ExAC gnomAD
CA5007985 rs558076184	1543	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749602777 CA5007986	1545	I>F		No	ClinGen ExAC TOPMed gnomAD
CA373055607 rs149557796	1546	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149557796 CA5007988 RCV000911568	1546	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs138668998 CA5007987	1546	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1244120275 CA373055622	1547	R>K		No	ClinGen TOPMed
CA373055638 rs1270116430	1549	D>G		No	ClinGen gnomAD
CA373055659 rs1359133804	1552	L>P		No	ClinGen TOPMed
rs147238626 CA5008009	1554	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5008010 rs777979272	1555	S>N		No	ClinGen ExAC gnomAD
CA5008011 rs747050857	1556	I>V		No	ClinGen ExAC gnomAD
CA190580674 rs951129413	1559	C>W		No	ClinGen gnomAD
CA5008013 rs781242978	1561	L>V		No	ClinGen ExAC gnomAD
CA5008014 rs377009710	1562	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1107753 COSM1489901 rs775195301 CA5008016	1563	M>I	endometrium breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs769587629 CA5008015	1563	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1387103271 CA373055736	1564	T>A		No	ClinGen gnomAD
CA5008017 rs762941085	1567	D>Y		No	ClinGen ExAC TOPMed gnomAD
COSM1107754 CA373055764 rs1303822771	1568	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5008018 rs768566687	1568	A>V		No	ClinGen ExAC gnomAD
CA5008020 rs747973724	1569	N>S		No	ClinGen ExAC gnomAD
CA5008022 rs750067269	1570	R>Q		No	ClinGen ExAC gnomAD
rs767012856 CA5008021 COSM232622	1570	R>W	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5008023 rs760348078	1571	I>T		No	ClinGen ExAC TOPMed gnomAD
rs753108162 CA373055786	1572	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1461740 CA5008025 rs753108162	1572	A>T	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1206846641 CA373055794	1573	Q>H		No	ClinGen gnomAD
rs759036139 CA5008026	1573	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs759036139 CA190580756	1573	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA373055798 rs1215738095	1574	V>F		No	ClinGen TOPMed gnomAD
CA373055801 rs1587780787	1574	V>G		No	ClinGen Ensembl
CA373055807 rs1471943110	1575	T>I		No	ClinGen gnomAD
rs1252161590 CA373055802	1575	T>P		No	ClinGen gnomAD
rs1390980912 CA373055842	1579	I>L		No	ClinGen gnomAD
CA373055854 rs1429376944	1580	E>A		No	ClinGen gnomAD
CA373055853 rs1429376944	1580	E>G		No	ClinGen gnomAD
CA373055877 rs1437349405	1584	F>L		No	ClinGen gnomAD
CA373055886 rs1208580610	1585	V>F		No	ClinGen TOPMed
rs895785769 CA190583857	1586	K>*		No	ClinGen TOPMed gnomAD
rs868649266 CA190583862	1586	K>N		No	ClinGen Ensembl
CA373055908 rs976282769	1588	Y>*		No	ClinGen TOPMed gnomAD
CA5008049 rs763380968	1588	Y>C		No	ClinGen ExAC gnomAD
CA5008050 rs764481778	1589	L>*		No	ClinGen ExAC gnomAD
rs752017425 CA5008051	1591	S>A		No	ClinGen ExAC gnomAD
rs757714176 CA5008052	1591	S>F		No	ClinGen ExAC TOPMed gnomAD
CA5008053 rs767555418	1592	Q>E		No	ClinGen ExAC gnomAD
CA373055926 rs767555418	1592	Q>K		No	ClinGen ExAC gnomAD
CA373055928 rs1265303339	1592	Q>R		No	ClinGen gnomAD
rs750484485 CA5008054	1593	G>E		No	ClinGen ExAC gnomAD
CA5008055 rs756376530	1594	R>*		No	ClinGen ExAC TOPMed gnomAD
CA373055939 rs780217856	1594	R>P		No	ClinGen ExAC TOPMed gnomAD
rs780217856 CA5008056	1594	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749470743 CA373055948	1596	P>A		No	ClinGen ExAC gnomAD
rs754749343 CA5008058	1596	P>L		No	ClinGen ExAC gnomAD
rs749470743 CA5008057	1596	P>T		No	ClinGen ExAC gnomAD
rs1164206389 CA373055962	1598	V>A		No	ClinGen gnomAD
rs748042165 CA5008060	1598	V>M		No	ClinGen ExAC gnomAD
rs1392134639 CA373055965	1599	N>D		No	ClinGen gnomAD
CA373055975 rs1486348732	1600	L>P		No	ClinGen gnomAD
CA5008061 rs140731330	1601	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs184060968 CA5008063	1602	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199529959 CA5008064	1603	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5008068 rs774770656	1606	V>A		No	ClinGen ExAC gnomAD
CA373056010 rs143069254	1606	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5008067 rs143069254	1606	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373056022 CA373056021 rs1269399830	1608	V>L		No	ClinGen gnomAD
rs762281549 CA5008069	1609	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1214093027 CA373056033	1610	H>N		No	ClinGen gnomAD
rs771565092 CA5008070	1611	R>C		No	ClinGen ExAC TOPMed gnomAD
rs750541536 CA5008071	1611	R>H	Variant assessed as Somatic; 4.709e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5008072 rs147484762	1612	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1181547650 CA373056047	1612	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5008073 rs766396091	1613	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1473650853 CA373056052	1613	K>Q		No	ClinGen gnomAD
CA190584074 rs938476652	1615	V>A		No	ClinGen Ensembl
CA190584073 rs376770371	1615	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA5008075 rs376770371	1615	V>M		No	ClinGen ExAC
CA373056082 rs1398671457	1617	A>V		No	ClinGen TOPMed gnomAD
CA373056090 rs1335969672	1618	W>C		No	ClinGen gnomAD
CA5008076 rs778642783	1621	L>V		No	ClinGen ExAC gnomAD
CA373056116 rs1564246485	1622	H>R		No	ClinGen Ensembl
TCGA novel	1623	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5008078 rs758320774	1623	S>N		No	ClinGen ExAC gnomAD
CA5008080 rs746906082	1625	Y>C		No	ClinGen ExAC gnomAD
rs1053054662 CA190584098	1625	Y>H		No	ClinGen gnomAD
CA5008082 rs780779714	1626	Q>H		No	ClinGen ExAC gnomAD
CA5008083 rs745571526	1627	A>P		No	ClinGen ExAC gnomAD
rs1209673231 CA373056149	1627	A>V		No	ClinGen gnomAD
rs189041170 CA5008084	1628	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5008086 rs762205186	1628	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5008085 rs189041170	1628	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140081009 CA5008087	1629	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773730668 CA5008088	1630	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5008089 rs773730668	1630	V>M		No	ClinGen ExAC TOPMed gnomAD
CA373056172 rs1468557281	1632	H>Y		No	ClinGen gnomAD
CA5008090 rs766451748	1633	A>P		No	ClinGen ExAC gnomAD
rs371212672 CA5008091	1633	A>V		No	ClinGen ESP ExAC gnomAD
CA373056184 rs759736911	1634	N>D		No	ClinGen ExAC TOPMed gnomAD
rs759736911 CA5008092	1634	N>H		No	ClinGen ExAC TOPMed gnomAD
rs374415200 CA5008093	1634	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5008094 rs374415200	1634	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5008096 rs545740798	1635	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5008095 rs545740798	1635	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781242155	1636	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1306894109 CA373056193	1636	G>S		No	ClinGen gnomAD
CA373056208 rs1165524191	1636	G>V		No	ClinGen TOPMed
rs755671239 CA373056212	1637	V>F		No	ClinGen ExAC TOPMed gnomAD
CA5008118 rs755671239	1637	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5008119 rs779373316	1640	R>K		No	ClinGen ExAC gnomAD
CA5008120 rs748973467	1642	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA190585836 rs78628199	1646	E>G		No	ClinGen Ensembl
CA373056282 rs778168462	1647	L>V		No	ClinGen ExAC TOPMed gnomAD
CA373056301 rs1449917606	1649	G>A		No	ClinGen gnomAD
CA373056299 rs1449917606	1649	G>D		No	ClinGen gnomAD
CA373056298 rs1249628200	1649	G>S		No	ClinGen gnomAD
CA190585856 rs376911626	1650	Y>C		No	ClinGen TOPMed gnomAD
rs747354418 CA5008123	1650	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA373056313 rs1163367354	1651	I>S		No	ClinGen TOPMed gnomAD
rs1458932950 CA373056309	1651	I>V		No	ClinGen gnomAD
CA5008124 rs771469570	1652	R>G		No	ClinGen ExAC gnomAD
CA5008125 rs777228997	1652	R>S		No	ClinGen ExAC TOPMed gnomAD
rs142945202 CA5008126	1653	N>H		No	ClinGen ESP ExAC gnomAD
rs1224013384 CA373056331	1654	V>A		No	ClinGen TOPMed
CA5008129 rs763321489	1657	Q>*		No	ClinGen ExAC gnomAD
CA5008130 rs764384996	1657	Q>P		No	ClinGen ExAC gnomAD
CA5008131 rs774325844	1658	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1211734303 CA373056367	1660	S>C		No	ClinGen TOPMed gnomAD
CA373056368 rs1211734303	1660	S>F		No	ClinGen TOPMed gnomAD
rs200325595 CA5008132	1660	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1564249869 CA373056373	1661	F>C		No	ClinGen Ensembl
rs1465132707 CA373056380	1662	H>R		No	ClinGen gnomAD
rs767166880 CA5008133	1662	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA5008134 rs201312327	1663	N>S		No	ClinGen ExAC gnomAD
rs755938108 CA5008135	1664	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5008138 rs202009690	1665	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5008139 rs190658661 RCV000903144	1665	A>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs975062893 CA190585911	1666	L>R		No	ClinGen Ensembl
rs1473979626 CA373056401	1666	L>V		No	ClinGen gnomAD
rs117405838 CA5008141	1667	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373056414 rs4977881	1668	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000455149 CA5008144 VAR_037882 RCV001692114 rs4977881	1668	K>E		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA373056413 rs4977881	1668	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5008170 rs772170959	1669	A>P		No	ClinGen ExAC gnomAD
CA5008171 rs773110147	1670	L>V		No	ClinGen ExAC gnomAD
CA5008173 rs760356823	1671	D>V		No	ClinGen ExAC
TCGA novel	1671	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770722315 CA5008174	1672	F>I		No	ClinGen ExAC gnomAD
CA5008175 rs770722315	1672	F>V		No	ClinGen ExAC gnomAD
CA5008176 rs759414898	1672	F>Y		No	ClinGen ExAC gnomAD
rs1564252409 CA373056465	1674	L>*		No	ClinGen Ensembl
CA373056473 rs1183573675	1675	L>P		No	ClinGen TOPMed
CA5008178 rs752202353	1676	I>T		No	ClinGen ExAC gnomAD
rs1587801618 CA373056475	1676	I>V		No	ClinGen Ensembl
rs1457097230 CA373056496	1679	T>A		No	ClinGen TOPMed gnomAD
CA190587581 rs972855188	1679	T>N		No	ClinGen Ensembl
CA373056497 rs1457097230	1679	T>S		No	ClinGen TOPMed gnomAD
rs149857518 CA5008179	1680	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5008182 rs150147497	1683	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5008181 RCV000958364 rs150147497	1683	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA373056524 rs1461599092	1684	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs201929700 CA190587643	1686	D>E		No	ClinGen TOPMed gnomAD
CA190587615 rs984284807	1686	D>N		No	ClinGen Ensembl
rs371212943 CA5008185	1688	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs190174954 CA373056553	1688	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5008186 rs190174954	1688	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748154736 CA5008187	1689	A>D		No	ClinGen ExAC TOPMed gnomAD
rs748154736 CA190587700	1689	A>V		No	ClinGen ExAC TOPMed gnomAD
rs777890055 CA5008189	1690	P>L		No	ClinGen ExAC gnomAD
CA373056562 rs777890055	1690	P>R		No	ClinGen ExAC gnomAD
CA373056558 rs1306352046	1690	P>S		No	ClinGen TOPMed gnomAD
CA5008192 rs375110882	1692	L>F		No	ClinGen ESP ExAC gnomAD
CA373056570 rs375110882	1692	L>I		No	ClinGen ESP ExAC gnomAD
CA373056576 rs1453038189	1693	L>F		No	ClinGen gnomAD
CA373056581 rs1420513017	1694	G>R		No	ClinGen TOPMed gnomAD
CA373056580 rs1420513017	1694	G>S		No	ClinGen TOPMed gnomAD
rs1427929379 CA373056584	1694	G>V		No	ClinGen gnomAD
CA373056590 rs1351501064	1695	L>P		No	ClinGen gnomAD
rs769710150 CA5008195	1696	S>N		No	ClinGen ExAC gnomAD
CA373056626 rs1477414611	1700	L>W		No	ClinGen TOPMed
CA5008196 rs775017286	1701	P>L		No	ClinGen ExAC gnomAD
rs146469776 CA5008197	1702	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs763608595 CA373056645	1703	H>L		No	ClinGen ExAC TOPMed gnomAD
rs763608595 CA190587772	1703	H>P		No	ClinGen ExAC TOPMed gnomAD
rs763608595 CA5008198	1703	H>R		No	ClinGen ExAC TOPMed gnomAD
rs761459704 CA5008200	1704	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA5008199 rs751182334	1704	Q>R		No	ClinGen ExAC gnomAD
rs575079052 CA5008202	1705	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5008201 rs575079052	1705	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373056667 rs1314220272	1706	N>K		No	ClinGen gnomAD
rs1331127375 CA373056672	1707	G>A		No	ClinGen TOPMed
rs76872931 CA373056677	1708	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs76872931 CA5008204	1708	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5008203 rs149082800	1708	P>T		No	ClinGen ESP ExAC gnomAD
rs1373580586 CA373056680	1709	A>D		No	ClinGen gnomAD
CA5008206 rs141891300	1709	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5008208 rs747202347	1711	P>A		No	ClinGen ExAC gnomAD
CA5008209 rs181929688	1712	V>A		No	ClinGen 1000Genomes ExAC
rs1242880055 CA373056694	1712	V>I		No	ClinGen gnomAD
rs781026912 CA5008211	1713	P>S		No	ClinGen ExAC TOPMed gnomAD
rs781026912 CA5008210	1713	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1713	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373056706 rs1439199932	1714	S>N		No	ClinGen gnomAD
rs769535264 CA5008212	1715	F>L		No	ClinGen ExAC gnomAD
CA190587856 rs199645278	1716	L>F		No	ClinGen gnomAD
rs375307034 CA5008213	1716	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373056721 rs375307034	1716	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5008214 rs371645516	1717	G>V		No	ClinGen ESP ExAC gnomAD
CA373056741 rs1587802227	1719	S>R		No	ClinGen Ensembl
TCGA novel	1720	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5008216 rs773906094	1721	M>K		No	ClinGen ExAC TOPMed gnomAD
rs773906094 CA5008217	1721	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5008215 rs373817427	1721	M>V		No	ClinGen ESP ExAC gnomAD
rs527327370 CA373056761	1722	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373056764 rs760010980	1723	R>K		No	ClinGen ExAC gnomAD
rs760010980 CA5008220	1723	R>T		No	ClinGen ExAC gnomAD
CA373056772 rs1587802326	1724	V>G		No	ClinGen Ensembl
CA373056768 rs765649827	1724	V>I		No	ClinGen ExAC gnomAD
rs765649827 CA5008221	1724	V>L		No	ClinGen ExAC gnomAD
rs758876380 CA5008223	1728	E>D		No	ClinGen ExAC gnomAD
CA190587909 rs1050206809	1731	T>S		No	ClinGen Ensembl
rs751650166 CA5008225	1733	L>F		No	ClinGen ExAC gnomAD
CA373056850 rs1564253133	1737	M>V		No	ClinGen Ensembl
CA5008227 rs781418911	1738	A>D		No	ClinGen ExAC gnomAD
CA373056859 rs1247100798	1738	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1008834292 CA190587950	1740	L>Q		No	ClinGen TOPMed
rs80118002 CA5008229	1744	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1209296124 CA373056910	1746	W>*		No	ClinGen TOPMed
rs1312750323 CA373056924	1748	E>K		No	ClinGen TOPMed
CA5008231 RCV000893701 rs146289463 CA190587981	1749	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
rs773782642 CA5008233	1751	Q>E		No	ClinGen ExAC gnomAD
rs773782642 CA5008234	1751	Q>K		No	ClinGen ExAC gnomAD
rs1587809928 CA373057057	1753	F>L		No	ClinGen Ensembl
rs777353734 CA5008256	1754	I>L		No	ClinGen ExAC TOPMed gnomAD
rs777353734 CA373057060	1754	I>V		No	ClinGen ExAC TOPMed gnomAD
rs770607770 CA373057078	1756	W>*		No	ClinGen ExAC gnomAD
rs770607770 CA5008258	1756	W>C		No	ClinGen ExAC gnomAD
rs746728300 CA5008257	1756	W>S		No	ClinGen ExAC
CA5008259 rs193279454	1757	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA190590619 rs141316482	1758	F>V		No	ClinGen ESP
rs768849692 CA5008261	1761	M>I		No	ClinGen ExAC gnomAD
rs774849595 CA5008262	1762	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5008263 rs762238259	1764	P>L		No	ClinGen ExAC gnomAD
rs1475429768 CA373057137	1765	K>T		No	ClinGen gnomAD
CA190590644 rs768857772	1766	E>K		No	ClinGen Ensembl
CA5008264 rs369371646	1767	A>S		No	ClinGen ESP ExAC gnomAD
CA190590660 rs971445763	1768	L>R		No	ClinGen TOPMed
rs564483970 CA5008265	1769	S>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1456704903 CA373057167	1770	A>E		No	ClinGen gnomAD
CA373057172 rs1328588765	1771	Q>*		No	ClinGen gnomAD
rs1395666198 CA373057180	1772	S>P		No	ClinGen gnomAD
rs202155226 CA5008268	1775	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA373057204 rs1328446727	1776	L>M		No	ClinGen TOPMed gnomAD
CA5008269 rs754825550	1778	A>T		No	ClinGen ExAC gnomAD
rs145021526 CA5008292	1778	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1490434932 CA373057530	1780	L>V		No	ClinGen TOPMed
rs1486730682 CA373057603	1785	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA373057595 rs1316326762	1785	V>I		No	ClinGen TOPMed
rs1203257715 CA373057609	1786	L>F		No	ClinGen gnomAD
CA5008295 rs745594672	1788	E>Q		No	ClinGen ExAC gnomAD
CA5008296 rs755719204	1791	K>E		No	ClinGen ExAC TOPMed gnomAD
CA190592597 rs150941499 CA5008297	1792	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5008298 rs748491399	1794	V>I		No	ClinGen ExAC gnomAD
rs761498633 CA190592617	1795	W>*		No	ClinGen Ensembl
CA373057758 rs1158140401	1796	T>S		No	ClinGen gnomAD
rs1302721843 CA373057769	1797	R>K		No	ClinGen TOPMed
rs1487984640 CA373057784	1798	A>T		No	ClinGen gnomAD
rs765713438 CA190592629	1801	W>C		No	ClinGen Ensembl
CA373057842 rs1416660404	1801	W>G		No	ClinGen gnomAD
rs1188824492 CA373057846	1801	W>S		No	ClinGen gnomAD
CA373057858 rs1313527701	1802	W>L		No	ClinGen gnomAD

No associated diseases with Q5VW36

1 regional properties for Q5VW36

Type	Name	Position	InterPro Accession
domain	Focadhesin/RST, DUF3730	490 - 714	IPR022542

Functions

		Description
EC Number
Subcellular Localization	Cell junction, focal adhesion Cytoplasm, cytosol	In astrocytes, colocalizes with VCL to the end of actin stress fibers, which normally terminate at focal adhesions In hepatocytes, it is found in the cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
integral component of membrane	The component of a 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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
regulation of post-transcriptional gene silencing	Any process that modulates the frequency, rate or extent of the inactivation of gene expression by a posttranscriptional mechanism.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MSDDIRKRFE	FPNSLIQSQA	VGHLIAAVLK	ENGFSEKIHQ	STNQTPALNL	LWEKCCSDNV
70	80	90	100	110	120
VVRTACCEGL	VALVAQDHAE	FSYVLNGILN	LIPSTRNTHG	LIKAIMHLLQ	MQALKEGQGG
130	140	150	160	170	180
EKNIQSIYTI	RNHPHPLITV	LEHRPDCWPV	FLQQLTAFFQ	QCPERLEVSC	IQIMAPFLWY
190	200	210	220	230	240
LYCEPSQLQE	YAKLRLALLK	VLLQPQVLCD	KDQPSILEQQ	ILQLCCDIVP	CLQVKDLIQT
250	260	270	280	290	300
TEAMMFIEEV	CLSLLRHPVF	WKIQLTQMSL	QLLCVSEVSL	KITGECSSSI	HLLEHSVELL
310	320	330	340	350	360
KEDFPVELVI	IGIALLLLQT	PASQQKPILN	LALKLLSVTE	DQKIPKSSLL	LVMPILQILS
370	380	390	400	410	420
STALEDCISV	DEEGPSRQQL	ALNLLEMIQQ	ECYRDDHQKL	SYKLVCPVTS	MYGTIFTAWR
430	440	450	460	470	480
ILEVMTDSSA	ASDWLASVES	LLPITAVIPA	PAFLLLAHLL	VEDKGQNLHQ	ILKVTTELAQ
490	500	510	520	530	540
ADSSQVPNLI	PVLMFKLGRP	LEPILYNDIL	YTLPKLGVHK	VCIGQILRII	QLLGTTPRLR
550	560	570	580	590	600
AVTLRLLTSL	WEKQDRVYPE	LQRFMAVSDV	PSLSVGKEVQ	WEKLIAKAAS	IRDICKQRPY
610	620	630	640	650	660
QHGADMLAAI	SQVLNECTKP	DQATPAALVL	QGLHALCQAE	VVCIRSTWNA	LSPKLSCDTR
670	680	690	700	710	720
PLILKTLSEL	FSLVPSLTVN	TTEYENFKVQ	VLSFLWTHTQ	NKDPIVANAA	YRSLANFSAG
730	740	750	760	770	780
EHTILHLPEK	IRPEIPIPEE	LDDDEDVEDV	DLSVPGSCYL	KLLSLTPPLV	LPALEEFFTS
790	800	810	820	830	840
LVKQEMVNMP	RGIYHSALKG	GARSDQGKTV	AGIPNFILKM	YETNKQPGLK	PGLAGGMLFC
850	860	870	880	890	900
YDVSMYQSKD	GKPLNRLMAS	RGRSFKQTSL	ALVHEVHIQL	SEWHRAIFLP	QAWLAYMNRA
910	920	930	940	950	960
YHAILQGRLG	ELELQLKHGK	EEPEEVQYKK	STAWLWVRDM	LTDEITKAAA	KESPVVKGNA
970	980	990	1000	1010	1020
LLALSSLAVV	VSRHEASLSS	DSDGLLEVQP	NFLSMKEWVS	MVLDTLLVIV	DSHYQPRGQL
1030	1040	1050	1060	1070	1080
LSWFYYKSYS	GENTASAIAR	SAAATALSLL	VPVFIISCKE	KVEEILNMLT	ARLPGKPSAD
1090	1100	1110	1120	1130	1140
ESQAVQIHMG	LALGMFLSRL	CEEKLSDISG	QEMNLLLMKS	LDALENCCFD	TSLEYNTGCI
1150	1160	1170	1180	1190	1200
LGVGLVLSLM	SHSSQMQSRV	HVAALLRKLS	AHVDDSGSQS	RTFQEVLAYT	LSCVCTSAFS
1210	1220	1230	1240	1250	1260
AGIIEATEAE	DVMNKLRLLV	ENSQQTSGFA	LALGNIVHGL	SVCGHGKAED	LGSKLLPAWI
1270	1280	1290	1300	1310	1320
RIVLTEGTPT	MLCLAALHGM	VALVGSEGDV	MQLKSEAIQT	SHFQGRLNEV	IRTLTQVISV
1330	1340	1350	1360	1370	1380
SGVIGLQSNA	VWLLGHLHLS	TLSSSQSRAS	VPTDYSYLPE	SSFIGAAIGF	FITGGKKGPE
1390	1400	1410	1420	1430	1440
SVPPSLLKVV	MKPIATVGES	YQYPPVNWAA	LLSPLMRLNF	GEEIQQLCLE	IMVTQAQSSQ
1450	1460	1470	1480	1490	1500
NAAALLGLWV	TPPLIHSLSL	NTKRYLLISA	PLWIKHISDE	QILGFVENLM	VAVFKAASPL
1510	1520	1530	1540	1550	1560
GSPELCPSAL	HGLSQAMKLP	SPAHHLWSLL	SEATGKIFDL	LPNKIRRKDL	ELYISIAKCL
1570	1580	1590	1600	1610	1620
LEMTDDDANR	IAQVTKSNIE	KAAFVKLYLV	SQGRFPLVNL	TDMLSVAVQH	REKEVLAWMI
1630	1640	1650	1660	1670	1680
LHSLYQARIV	SHANTGVLKR	MEWLLELMGY	IRNVAYQSTS	FHNTALDKAL	DFFLLIFATA
1690	1700	1710	1720	1730	1740
VVAWADHTAP	LLLGLSASWL	PWHQENGPAG	PVPSFLGRSP	MHRVTLQEVL	TLLPNSMALL
1750	1760	1770	1780	1790	1800
LQKEPWKEQT	QKFIDWLFSI	MESPKEALSA	QSRDLLKATL	LSLRVLPEFK	KKAVWTRAYG

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