AiPD: Autoinhibited Protein Database

O60343

Gene name	TBC1D4 (AS160, KIAA0603)
Protein name	TBC1 domain family member 4
Names	Akt substrate of 160 kDa, AS160
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9882
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

604-681 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

604-681 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

3 structures for O60343

Entry ID	Method	Resolution	Chain	Position	Source
3QYB	X-ray	350 A	A	874-1170	PDB
7NIX	X-ray	190 A	B	637-647	PDB
AF-O60343-F1	Predicted				AlphaFoldDB

1099 variants for O60343

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs200446215 RCV000503605 CA7004214 RCV002524307	238	K>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA214736 RCV000144945 rs61736969 COSM263982	684	R>*	large_intestine endometrium TYPE 2 DIABETES MELLITUS 5, SUSCEPTIBILITY TO [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000755002 RCV002532195 CA7003556 rs199560195	1041	R>H	Variant assessed as Somatic; 0.0 impact. Insulin resistance Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA388266180 rs1348946388	3	P>Q		No	ClinGen TOPMed gnomAD
RCV000501058 rs1555327550 CA388266186	3	P>T		No	ClinGen ClinVar Ensembl dbSNP
CA388266149 rs1237346665	4	P>H		No	ClinGen gnomAD
rs1469890813 CA388266120	5	S>C		No	ClinGen Ensembl
rs776733868 CA7004399	5	S>N		No	ClinGen ExAC gnomAD
rs776733868 CA7004400	5	S>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA388266047 rs1412279653	7	I>V		No	ClinGen gnomAD
rs771158239 CA7004397	8	Q>H		No	ClinGen ExAC gnomAD
CA388265877 rs1426831656	12	F>L		No	ClinGen gnomAD
rs1188241627 CA388265884	12	F>S		No	ClinGen TOPMed
rs201749812 CA7004396	13	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772564910 CA7004394	14	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs748607315 CA7004393	15	P>A		No	ClinGen ExAC gnomAD
rs1474222416 CA388265828	15	P>L		No	ClinGen TOPMed gnomAD
rs745526512 CA7004390	16	L>M		No	ClinGen ExAC TOPMed gnomAD
rs780654666 CA7004388	16	L>R		No	ClinGen ExAC TOPMed gnomAD
rs368290678 CA7004386 CA252108224	17	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs756797020 CA7004387	17	E>G		No	ClinGen ExAC gnomAD
rs1350202316 CA388265766	18	P>R		No	ClinGen TOPMed gnomAD
rs764075601 CA7004385	18	P>S		No	ClinGen ExAC gnomAD
rs530133916 CA7004383	19	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7004384 rs530133916	19	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7004381 rs759756870	20	P>A		No	ClinGen ExAC TOPMed gnomAD
rs759756870 CA388265736	20	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7004382 rs759756870	20	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7004379 rs766537114	21	G>D		No	ClinGen ExAC TOPMed gnomAD
rs766537114 CA7004380	21	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1385213854 CA388265691	23	S>L		No	ClinGen gnomAD
CA388265698 rs1399790336	23	S>T		No	ClinGen gnomAD
rs772651134 CA7004375	24	A>P		No	ClinGen ExAC TOPMed gnomAD
rs772651134 CA388265689	24	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388265659 rs1208321796	25	Q>E		No	ClinGen TOPMed
CA7004373 rs370383277	25	Q>H		No	ClinGen ESP ExAC gnomAD
rs1475592053 CA388265624	26	P>S		No	ClinGen gnomAD
rs1191075433 CA388265593	27	G>R		No	ClinGen TOPMed gnomAD
CA388265597 rs1191075433	27	G>S		No	ClinGen TOPMed gnomAD
rs1285204294 CA388265545	28	P>R		No	ClinGen gnomAD
rs1446709392 CA388265567	28	P>T		No	ClinGen gnomAD
CA7004370 rs373225108	29	G>R		No	ClinGen ESP ExAC TOPMed
rs373225108 CA7004369	29	G>W		No	ClinGen ESP ExAC TOPMed
CA388265515 rs1273132457	30	K>E		No	ClinGen gnomAD
rs777268414 CA252108057 CA7004368	30	K>N		No	ClinGen ExAC gnomAD
TCGA novel	32	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388265398 rs1267963462	33	D>E		No	ClinGen gnomAD
rs1429393572 CA388265379	34	K>E		No	ClinGen gnomAD
rs1326668734 CA388264481	35	R>L		No	ClinGen gnomAD
rs1179536300 CA388264444	37	R>G		No	ClinGen TOPMed
rs752601636 CA7004367	37	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7004366 rs752601636	37	R>P		No	ClinGen ExAC TOPMed gnomAD
rs752601636 CA388264439	37	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7004364 rs754771427	39	W>*		No	ClinGen ExAC TOPMed gnomAD
CA388264416 rs754771427	39	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1165355816 CA388264404	40	Y>D		No	ClinGen gnomAD
rs766770293 CA7004362	42	G>A		No	ClinGen ExAC TOPMed gnomAD
CA252107992 rs766770293	42	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1190700336 CA388264329	43	G>E		No	ClinGen TOPMed gnomAD
CA388264338 rs1248912174	43	G>R		No	ClinGen gnomAD
rs1190700336 CA388264324	43	G>V		No	ClinGen TOPMed gnomAD
CA7004359 rs773363043	44	S>*		No	ClinGen ExAC gnomAD
TCGA novel	44	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	44	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746138867	44	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388264294 rs1324083582	45	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA388264271 rs1213485040	47	D>H		No	ClinGen gnomAD
CA388264220 rs1339431426	48	H>Y		No	ClinGen gnomAD
CA7004356 rs370400049	51	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1326408676 CA388264144	51	T>M		No	ClinGen gnomAD
CA7004357 rs370400049	51	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1352703515 CA388264134	52	L>V		No	ClinGen TOPMed gnomAD
rs1169604168 CA388264092	54	M>I		No	ClinGen gnomAD
rs775845720 CA388264100	54	M>L		No	ClinGen ExAC
rs775845720 CA7004354	54	M>V		No	ClinGen ExAC
rs746692909 CA7004351	55	L>R		No	ClinGen ExAC gnomAD
CA7004352 rs770502545	55	L>V		No	ClinGen ExAC gnomAD
CA7004350 rs540440501	56	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1452875061 CA388264052	57	W>*		No	ClinGen gnomAD
rs1286539701 CA388264054	57	W>R		No	ClinGen TOPMed
rs771533320 CA7004349	59	M>L		No	ClinGen ExAC gnomAD
rs748088148 CA7004348	59	M>T		No	ClinGen ExAC gnomAD
TCGA novel	61	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA252107853 rs1043679529	63	R>C		No	ClinGen Ensembl
CA7004347 rs778783922	63	R>H		No	ClinGen ExAC gnomAD
rs1204385139 CA388263919	64	R>K		No	ClinGen gnomAD
CA252107847 rs1010458153	65	R>H		No	ClinGen TOPMed
CA388263897 rs1566523398	66	S>C		No	ClinGen Ensembl
CA252107822 rs892077178	67	Q>R		No	ClinGen Ensembl
CA252107815 rs1057042970	68	K>E		No	ClinGen TOPMed
CA388263853 rs1450287776	68	K>R		No	ClinGen TOPMed
rs750720499 CA7004342	69	P>A		No	ClinGen ExAC TOPMed gnomAD
CA7004341 rs528251336	69	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750720499 CA7004343	69	P>S		No	ClinGen ExAC TOPMed gnomAD
CA388263824 rs1250113499	70	E>V		No	ClinGen gnomAD
CA388263812 rs1297370505	72	G>D		No	ClinGen TOPMed gnomAD
rs1370843779 CA388263815	72	G>S		No	ClinGen gnomAD
CA388263808 rs761862519	73	G>C		No	ClinGen ExAC TOPMed gnomAD
CA7004339 rs752091613	73	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7004340 rs761862519	73	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1432876511 COSM3417698 CA388263794	75	G>E	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1360577447 CA388263796 CA388263797	75	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1432876511 CA388263792	75	G>V		No	ClinGen gnomAD
rs934568781 CA252107784	76	A>G		No	ClinGen Ensembl
CA388263791 rs1375072674	76	A>T		No	ClinGen gnomAD
rs546086978 CA7004336	80	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7004335 COSM948429 rs770167590	81	E>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs947303183 CA252107743	83	I>F		No	ClinGen TOPMed gnomAD
CA7004332 rs768828190	83	I>M		No	ClinGen ExAC TOPMed gnomAD
CA388263748 rs772891312	83	I>S		No	ClinGen ExAC TOPMed gnomAD
CA7004333 rs772891312	83	I>T		No	ClinGen ExAC TOPMed gnomAD
rs947303183 CA388263750	83	I>V		No	ClinGen TOPMed gnomAD
rs768414083 CA7004329	86	L>P		No	ClinGen ExAC gnomAD
rs1352266807 CA388263720	88	A>E		No	ClinGen TOPMed gnomAD
rs1352266807 CA388263718	88	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	92	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201175293 CA7004324	92	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757513744 CA7004323	93	C>G		No	ClinGen ExAC gnomAD
rs757513744 CA252107686	93	C>S		No	ClinGen ExAC gnomAD
TCGA novel	95	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764263127 CA7004321	96	A>E		No	ClinGen ExAC gnomAD
CA7004322 rs541945734	96	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs373653727 CA7004319	97	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs373653727 CA388263669	97	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7004320 rs763400059	97	P>S		No	ClinGen ExAC gnomAD
CA388263658 rs1195100149	99	A>G		No	ClinGen Ensembl
RCV001636675 CA214719 rs77685055 RCV000118591	101	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs954435400 CA388263640	102	S>L		No	ClinGen TOPMed
TCGA novel	102	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs954435400 CA252107648	102	S>W		No	ClinGen TOPMed
rs759960886 CA7004318 CA388263639	103	G>R		No	ClinGen ExAC TOPMed gnomAD
rs759960886 CA388263638	103	G>W		No	ClinGen ExAC TOPMed gnomAD
rs749748051	104	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7004316 rs771570274	104	G>A		No	ClinGen ExAC TOPMed gnomAD
rs771570274 CA388263630	104	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1259721288 CA388263628	105	T>A		No	ClinGen gnomAD
CA7004312 rs773697025	106	S>G		No	ClinGen ExAC TOPMed gnomAD
CA388263617 rs1271218694	106	S>R		No	ClinGen gnomAD
CA7004310 rs375044820	107	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7004311 rs375044820	107	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs775630752 CA7004309	108	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7004308 rs769694917	109	A>P		No	ClinGen ExAC gnomAD
rs745599276 CA7004307	109	A>V		No	ClinGen ExAC gnomAD
CA7004304 rs777693671	110	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7004305 rs757380027	110	T>P		No	ClinGen ExAC gnomAD
rs777693671 CA7004303	110	T>R		No	ClinGen ExAC TOPMed gnomAD
rs371278828 CA252107572	111	Q>H		No	ClinGen ESP TOPMed gnomAD
COSM3814042 CA252107570 rs375426745	113	N>S	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs375426745 CA388263584	113	N>T		No	ClinGen TOPMed gnomAD
CA388263579 rs1461436077	114	P>A		No	ClinGen gnomAD
rs372105072 CA7004302	114	P>L		No	ClinGen ExAC gnomAD
rs372105072 CA388263576	114	P>R		No	ClinGen ExAC gnomAD
CA388263570 rs1283028118	115	A>V		No	ClinGen TOPMed
CA7004300 rs765792256	116	V>E		No	ClinGen ExAC gnomAD
CA7004297 rs766800389	117	F>L		No	ClinGen ExAC TOPMed gnomAD
rs755493386 CA7004299	117	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1465961144 CA388263557	118	I>V		No	ClinGen gnomAD
CA252107530 CA388263545 rs774625506	119	F>L		No	ClinGen TOPMed gnomAD
rs1212834873 CA388263542	120	E>K		No	ClinGen gnomAD
rs1212834873 CA388263543	120	E>Q		No	ClinGen gnomAD
CA388263523 rs1267087833	122	K>M		No	ClinGen gnomAD
rs1381562546 CA388263511	124	Q>P		No	ClinGen Ensembl
rs763689382 CA7004294	125	H>N		No	ClinGen ExAC gnomAD
CA7004293 rs534910021	125	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs769785961 CA7004291	126	I>N		No	ClinGen ExAC TOPMed gnomAD
CA7004290 rs776239804	127	S>*		No	ClinGen ExAC gnomAD
CA7004289 rs776239804	127	S>W		No	ClinGen ExAC gnomAD
CA7004288 rs770808146	128	R>C		No	ClinGen ExAC TOPMed gnomAD
CA388263486 rs1490621339	128	R>L		No	ClinGen TOPMed gnomAD
rs1490621339 CA388263487	128	R>P		No	ClinGen TOPMed gnomAD
CA7004284 rs375912778	131	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7004283 rs778971501	132	N>D		No	ClinGen ExAC gnomAD
rs77951178 CA7004282	132	N>S		No	ClinGen ExAC TOPMed gnomAD
rs77951178 CA7004281	132	N>T		No	ClinGen ExAC TOPMed gnomAD
rs947020170 CA252107474	133	S>N		No	ClinGen TOPMed
rs756565461 CA7004279	135	D>G		No	ClinGen ExAC gnomAD
rs201977359 CA7004278	138	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201977359 CA7004277	138	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA252107443 rs1057351822	141	Y>*		No	ClinGen Ensembl
CA388263339 rs1344593874	141	Y>C		No	ClinGen gnomAD
rs1458987960 CA388263317	143	I>V		No	ClinGen TOPMed
CA7004275 rs775098615	147	P>H		No	ClinGen ExAC gnomAD
CA388263239 rs1390209414	148	D>G		No	ClinGen gnomAD
rs1370482088 CA388263227	149	D>H		No	ClinGen TOPMed gnomAD
rs1002796555 CA252107404	150	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	150	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA252107386 rs200405344	152	S>P		No	ClinGen TOPMed gnomAD
CA7004273 rs759369418	152	S>W		No	ClinGen ExAC TOPMed gnomAD
rs905869100 CA252107373	153	Q>P		No	ClinGen TOPMed
rs770627935 CA7004271	154	M>T		No	ClinGen ExAC gnomAD
rs1179387991 CA388263117	156	C>*		No	ClinGen gnomAD
rs1418489078 CA388263104	157	H>Q		No	ClinGen gnomAD
rs923117235 CA252107351	158	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	159	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206523126 CA388263086	160	R>H		No	ClinGen TOPMed
rs1269267253 CA388263081	161	A>S		No	ClinGen TOPMed
CA388263068 rs1593934684	163	D>A		No	ClinGen Ensembl
TCGA novel	164	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278485445 CA388263058	164	P>R		No	ClinGen gnomAD
rs374251306 CA7004267	165	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345936331 CA388263053	165	S>I		No	ClinGen gnomAD
rs1593793385 CA388355509	167	V>I		No	ClinGen Ensembl
rs1434120563 CA388355496	169	D>N		No	ClinGen gnomAD
rs370699144 CA388355488	170	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7004245 rs370699144	170	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs377352519 CA252845735	171	I>V		No	ClinGen ESP TOPMed gnomAD
CA388355461 rs1297479420	174	I>V		No	ClinGen TOPMed
rs1466789960 CA388355446	176	Q>*		No	ClinGen Ensembl
CA7004242 rs781673143	180	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1473128903 CA388355414	181	A>T		No	ClinGen gnomAD
rs867462794 CA252845732	181	A>V		No	ClinGen Ensembl
CA7004240 rs752394756	182	M>V		No	ClinGen ExAC gnomAD
CA388355387 rs1191245835	184	E>D		No	ClinGen gnomAD
TCGA novel	186	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs938849656 CA252845731	186	A>G		No	ClinGen TOPMed
rs938849656 CA388355373	186	A>V		No	ClinGen TOPMed
rs1251802031 CA388355359	188	P>L		No	ClinGen Ensembl
CA7004238 rs370970840	190	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA388355337 rs753323890	191	D>E		No	ClinGen ExAC TOPMed gnomAD
CA388355314 rs1289704112	194	D>V		No	ClinGen gnomAD
rs760615155 CA7004234	195	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	198	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388355274 rs1425521776	200	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1365466783 CA388355271	200	Q>R		No	ClinGen gnomAD
CA7004232 rs17254379	202	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388355253 rs1438372108	203	E>K		No	ClinGen gnomAD
rs1007182909 CA252845730	206	Y>C		No	ClinGen TOPMed gnomAD
CA252845729 rs889667951	207	C>Y		No	ClinGen TOPMed
rs1326763750 CA388355216	208	G>A		No	ClinGen TOPMed gnomAD
CA388355214 rs1406052748	209	K>E		No	ClinGen gnomAD
CA7004230 rs373127638	209	K>N		No	ClinGen ESP ExAC gnomAD
CA388355210 rs1416119672	209	K>R		No	ClinGen TOPMed gnomAD
rs1593793106 CA388355201	211	T>P		No	ClinGen Ensembl
rs559972730 CA7004228	212	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs559972730 CA7004229	212	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1593793075 CA388355191	213	T>P		No	ClinGen Ensembl
CA388355160 rs769811449	217	A>P		No	ClinGen ExAC gnomAD
rs769811449 CA7004227	217	A>S		No	ClinGen ExAC gnomAD
CA388355155 rs746346208	218	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7004226 rs746346208	218	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1223007724 TCGA novel CA388355148	219	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs1246656597 CA388355151	219	S>P		No	ClinGen gnomAD
rs777343144 CA7004225	220	S>C		No	ClinGen ExAC gnomAD
CA388355144 rs1298702961	220	S>N		No	ClinGen TOPMed
CA252845728 rs777343144	220	S>R		No	ClinGen ExAC gnomAD
TCGA novel	224	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7004223 rs369612769	226	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7004222 rs778006770	228	K>N		No	ClinGen ExAC gnomAD
CA252845727 rs940019666	228	K>R		No	ClinGen TOPMed gnomAD
CA7004220 rs545161429	231	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1438575783 CA388355057	232	H>P		No	ClinGen gnomAD
rs376257791 CA252845726	232	H>Q		No	ClinGen ESP TOPMed gnomAD
CA7004218 rs755665026	233	E>K		No	ClinGen ExAC TOPMed gnomAD
CA388355042 rs1429110054	234	Q>R		No	ClinGen gnomAD
CA388355036 rs1371431363	235	Q>*		No	ClinGen gnomAD
CA7004217 rs767381896	236	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7004216 rs767381896	236	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1593792861 CA388355005	240	Q>*		No	ClinGen Ensembl
CA388354989 rs1180834278	242	E>G		No	ClinGen gnomAD
rs764619612 CA252845723	244	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7004211 rs764619612	244	R>G		No	ClinGen ExAC TOPMed gnomAD
rs764619612 CA388354977	244	R>S		No	ClinGen ExAC TOPMed gnomAD
rs567936519 CA252845721	245	G>C		No	ClinGen TOPMed gnomAD
rs567936519 CA252845722	245	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7004210 rs202234772	246	P>A		No	ClinGen ExAC TOPMed gnomAD
CA7004208 rs771499703	246	P>L		No	ClinGen ExAC gnomAD
CA7004209 rs202234772	246	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1426438975 CA388354957	248	P>L		No	ClinGen TOPMed gnomAD
rs772373595 CA7004206	248	P>S		No	ClinGen ExAC gnomAD
CA7004205 rs772373595	248	P>T		No	ClinGen ExAC gnomAD
TCGA novel	249	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388354925 rs1593792724	253	A>T		No	ClinGen Ensembl
rs371913814 CA7004203	254	D>G		No	ClinGen ESP ExAC gnomAD
TCGA novel	256	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA252845720 rs928581290	257	V>L		No	ClinGen TOPMed
CA252845718 rs980418906	260	P>L		No	ClinGen TOPMed gnomAD
COSM1477303 rs544873334 CA388354874	261	G>E	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed
CA388354877 rs1464791389	261	G>R		No	ClinGen TOPMed gnomAD
rs544873334 CA252845717	261	G>V		No	ClinGen 1000Genomes TOPMed
CA388354868 rs751499017	262	S>C		No	ClinGen ExAC TOPMed gnomAD
CA7004197 rs751499017	262	S>F	Variant assessed as Somatic; 4.665e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388354862 rs1416455601	263	P>L		No	ClinGen gnomAD
CA7004195 rs769815689	264	G>R	Variant assessed as Somatic; 4.679e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388354856 rs1473193019	265	D>N		No	ClinGen gnomAD
rs752950014 CA7004194	266	C>*		No	ClinGen ExAC gnomAD
CA388354843 rs1253402877	266	C>Y		No	ClinGen gnomAD
CA388354840 rs1482758986	267	L>V		No	ClinGen gnomAD
rs759843257 CA7004192	268	P>L		No	ClinGen ExAC gnomAD
CA7004190 rs766590533	269	E>K		No	ClinGen ExAC gnomAD
rs372340410 CA7004189	270	E>G		No	ClinGen ESP ExAC gnomAD
rs199722075 CA7004188	271	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA252845715 rs1003074536	273	G>R		No	ClinGen TOPMed
CA388354804 rs1003074536	273	G>S		No	ClinGen TOPMed
rs774778693 CA7004187	275	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7004186 rs774778693	275	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7004185 rs774778693	275	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA388354778 rs1593792470	277	H>P		No	ClinGen Ensembl
CA388354772 RCV000504128 rs1555310734	278	L>F		No	ClinGen ClinVar Ensembl dbSNP
rs1303607107 CA388354766	279	G>C		No	ClinGen gnomAD
rs1593792443 CA388354757	280	L>F		No	ClinGen Ensembl
rs769392488 CA7004184	282	A>P		No	ClinGen ExAC gnomAD
CA7004182 rs780656592	284	A>T		No	ClinGen ExAC gnomAD
rs746960565 CA7004180	287	P>R		No	ClinGen ExAC gnomAD
rs755593392 CA252845714 COSM3711071	288	A>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1297106733 CA388354693	291	S>N		No	ClinGen gnomAD
COSM1228594 rs1414090151 CA388354681	293	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs752368866 CA7004176	298	E>K		No	ClinGen ExAC gnomAD
rs755204418 CA7004174	299	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	299	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754164973 CA7004173	301	L>W		No	ClinGen ExAC gnomAD
CA7004172 rs766539297	302	E>*		No	ClinGen ExAC TOPMed gnomAD
rs115600951 CA7004171	303	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1248496338 CA388354612	303	D>E		No	ClinGen gnomAD
rs750933788 CA388354607	304	S>C		No	ClinGen ExAC TOPMed gnomAD
rs750933788 CA7004170	304	S>F		No	ClinGen ExAC TOPMed gnomAD
rs200840673 CA7004169	305	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1292237160 CA388354600	306	F>L		No	ClinGen TOPMed gnomAD
rs1457821712 CA611399259	306	F>QSR*		No	ClinGen gnomAD
CA388354599 rs1292237160	306	F>V		No	ClinGen TOPMed gnomAD
CA388354588 rs1368577682	307	D>V		No	ClinGen gnomAD
TCGA novel	308	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166285679 CA388354571	309	Q>H		No	ClinGen gnomAD
CA252845711 rs752257476	311	E>K		No	ClinGen gnomAD
CA388354543 rs1389108674	313	R>L		No	ClinGen TOPMed gnomAD
rs1389108674 CA388354544	313	R>P		No	ClinGen TOPMed gnomAD
CA388354545 rs1389108674	313	R>Q		No	ClinGen TOPMed gnomAD
rs1037308826 CA252845710	313	R>W		No	ClinGen TOPMed
rs1236909034 CA388354534	315	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1188975739 CA388354535	315	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7004167 rs774527796	319	V>A		No	ClinGen ExAC gnomAD
rs202229002 CA7004165	321	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1224801870 CA388354488	322	V>A		No	ClinGen gnomAD
CA7004163 rs373660487	322	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs759301357 CA7004162	323	Q>K		No	ClinGen ExAC gnomAD
CA7004161 rs771864660	324	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7004160 rs771864660	324	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1297060811 CA388354478	324	R>W		No	ClinGen gnomAD
CA7004159 rs202068956	325	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA252845709 rs999194528	326	V>F		No	ClinGen TOPMed
rs778830148 CA7004158	327	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs370555579 CA252845707 COSM432543	328	E>K	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs370555579 CA7004157	328	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA388354450 rs1294784469	329	G>C		No	ClinGen gnomAD
CA388354445 rs1389207902	330	S>C		No	ClinGen TOPMed gnomAD
CA252845706 rs766141829	331	Q>R		No	ClinGen Ensembl
rs1445242659 CA388354410	334	Q>H		No	ClinGen TOPMed
TCGA novel	334	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750425259 CA7004153	335	P>L		No	ClinGen ExAC gnomAD
rs750425259 CA7004154	335	P>Q		No	ClinGen ExAC gnomAD
rs780485511 CA7004155	335	P>T		No	ClinGen ExAC gnomAD
CA7004151 rs757679391	336	R>*		No	ClinGen ExAC gnomAD
rs752098171 CA7004150	337	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	337	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764435707 CA7004149	339	H>L		No	ClinGen ExAC gnomAD
rs1346868051 CA388354380	340	A>G		No	ClinGen TOPMed
rs1346868051 CA388354379	340	A>V		No	ClinGen TOPMed
rs760407055 CA7004145	342	A>S		No	ClinGen ExAC gnomAD
rs760407055 COSM1367660 CA7004146	342	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA388354367 rs1273977357	342	A>V		No	ClinGen gnomAD
CA7004144 rs371090425	345	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7004142 rs748007365	346	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7004140 rs768561905	349	S>L		No	ClinGen ExAC TOPMed gnomAD
rs749038007 CA7004139	350	D>N		No	ClinGen ExAC gnomAD
CA7004138 rs780021277	351	S>L		No	ClinGen ExAC gnomAD
rs1555310641 CA388354287	354	N>K		No	ClinGen Ensembl
rs1172780811 CA388354282	355	R>K		No	ClinGen TOPMed
CA252845705 rs955702219	357	M>V		No	ClinGen Ensembl
CA7004131 rs752046886	360	Q>L		No	ClinGen ExAC gnomAD
rs752046886 CA388354246	360	Q>R		No	ClinGen ExAC gnomAD
rs753253014 CA7004110	361	V>A		No	ClinGen ExAC TOPMed gnomAD
CA388354232 rs1183868770	361	V>I		No	ClinGen TOPMed
rs587777260 COSM1300290 RCV000114317 CA230666	363	R>*	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs150208730 CA7004106	363	R>L		No	ClinGen ExAC TOPMed gnomAD
CA252845482 COSM108708 rs150208730	363	R>Q	Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7004105 rs761566882	366	I>F		No	ClinGen ExAC gnomAD
rs998550033 CA388354175	370	S>C		No	ClinGen gnomAD
rs998550033 CA252845481	370	S>G		No	ClinGen gnomAD
CA388354152 rs1425528118	373	T>S		No	ClinGen TOPMed
rs1302835769 CA388354136	375	S>L		No	ClinGen TOPMed
TCGA novel	377	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388354122 rs1363764058	378	L>V		No	ClinGen TOPMed
rs1434001619 CA388354114	379	E>G		No	ClinGen gnomAD
COSM263983 rs751078491 CA7004104	380	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763740779 CA7004103	381	N>S		No	ClinGen ExAC gnomAD
rs1204336011 CA388354078	384	D>Y		No	ClinGen Ensembl
CA7004102 rs762964975	385	I>T		No	ClinGen ExAC gnomAD
rs1246917042 CA388354061	386	S>F		No	ClinGen TOPMed gnomAD
rs769473267 CA7004100	387	S>C		No	ClinGen ExAC gnomAD
rs759309816 CA7004099	388	C>S		No	ClinGen ExAC gnomAD
rs776304989 CA7004098	389	S>A		No	ClinGen ExAC gnomAD
rs771093387 CA7004097	390	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747262526 CA7004096	390	Q>L		No	ClinGen ExAC gnomAD
rs760864020 CA388354022	391	G>D		No	ClinGen ExAC TOPMed gnomAD
rs760864020 CA7004078	391	G>V		No	ClinGen ExAC TOPMed gnomAD
rs773479288 CA7004077	392	I>R		No	ClinGen ExAC TOPMed gnomAD
CA388353994 rs1347525185	395	V>G		No	ClinGen gnomAD
rs772131934 CA7004076	395	V>M		No	ClinGen ExAC TOPMed gnomAD
CA252845139 rs973271607	396	D>G		No	ClinGen Ensembl
rs1165749383 CA388353965	399	G>V		No	ClinGen TOPMed
rs1376918864 CA388353963	400	F>L		No	ClinGen TOPMed
rs1409501349 CA388353950	401	I>M		No	ClinGen gnomAD
rs1172991301 CA388353944	402	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA388353949 rs1355272288	402	C>S		No	ClinGen TOPMed gnomAD
CA388353940 rs1425107811	403	R>Q		No	ClinGen TOPMed gnomAD
CA7004073 rs377252828	403	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	404	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA252845138 rs1014865452	405	S>F		No	ClinGen Ensembl
CA7004071 rs140144417	406	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7004070 rs140144417	406	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201082191 CA7004072	406	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7004069 rs746658734	407	E>G		No	ClinGen ExAC gnomAD
CA388353913 rs1180810545	408	P>A		No	ClinGen TOPMed gnomAD
rs1348891028 CA388353904	409	G>A		No	ClinGen TOPMed
CA388353884 rs1207796224	412	Q>R		No	ClinGen gnomAD
rs752203792 CA7004066	413	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs752203792 CA252845136	413	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388353856 rs1279045306	416	Y>N		No	ClinGen gnomAD
rs1593782236 CA388353846	417	V>A		No	ClinGen Ensembl
COSM166830 rs764685859 CA7004065	417	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7004064 rs754913520	419	Q>H		No	ClinGen ExAC gnomAD
CA388353832 rs1489542596	419	Q>R		No	ClinGen TOPMed
rs753768245 CA7004063	420	C>S		No	ClinGen ExAC gnomAD
rs760528845 CA7004061	423	E>K		No	ClinGen ExAC TOPMed gnomAD
CA388353808 rs760528845	423	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7004060 rs772994188	425	L>V		No	ClinGen ExAC gnomAD
rs376984813 CA7004038	426	V>F		No	ClinGen ESP ExAC gnomAD
TCGA novel	427	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775726896 CA7004037	432	T>S		No	ClinGen ExAC gnomAD
CA7004036 rs770377401	434	K>I		No	ClinGen ExAC gnomAD
CA388353697 rs1566410244	438	S>G		No	ClinGen Ensembl
CA388353687 rs368045312	439	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368045312 CA7004034	439	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA388353682 rs1219378601	440	A>V		No	ClinGen gnomAD
rs747822083 CA7004032	441	A>V		No	ClinGen ExAC gnomAD
CA388353648 CA388353647 rs1363512721	445	S>R		No	ClinGen gnomAD
rs1593771352 CA388353654	445	S>R		No	ClinGen Ensembl
rs748736479 CA388353633	447	K>N		No	ClinGen ExAC gnomAD
CA7004028 rs779558390 COSM1228595	448	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1265819938 CA388353630	448	T>S		No	ClinGen TOPMed
TCGA novel	449	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA252844451 rs1011134864	452	L>P		No	ClinGen TOPMed
CA7004025 rs201718044	454	E>A		No	ClinGen ExAC TOPMed gnomAD
CA252844449 rs891766873	455	A>V		No	ClinGen Ensembl
TCGA novel	456	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7004024 rs375499221	457	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1057165260 CA252844448	458	M>T		No	ClinGen Ensembl
rs1265107549 CA388353531	462	H>Q		No	ClinGen gnomAD
CA388353534 rs1430242307	462	H>R		No	ClinGen gnomAD
rs764167297 CA252844447	464	L>F		No	ClinGen ExAC TOPMed gnomAD
rs764167297 CA7004022	464	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1340280368 CA388353479	470	G>R		No	ClinGen gnomAD
CA7004007 rs780927626	473	P>S		No	ClinGen ExAC gnomAD
CA7004006 rs757235535	477	K>E		No	ClinGen ExAC TOPMed
CA388283976 rs1223505392	479	V>M		No	ClinGen gnomAD
CA388283946 rs1284649325	483	H>Y		No	ClinGen gnomAD
rs373742805 CA7004003	485	S>*		No	ClinGen ESP ExAC TOPMed
TCGA novel	485	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7004002 rs753018292	490	N>D		No	ClinGen ExAC gnomAD
CA388283886 rs1329067584	492	Q>R		No	ClinGen gnomAD
rs765394581 CA7004001	493	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388283877 rs1399856736	493	A>V		No	ClinGen gnomAD
rs759756044 CA7004000	494	D>G		No	ClinGen ExAC gnomAD
rs753970216 CA7003999	495	I>M		No	ClinGen ExAC TOPMed gnomAD
CA388283867 rs1566400548	495	I>N		No	ClinGen Ensembl
rs766659523 CA252165456	495	I>V		No	ClinGen Ensembl
CA7003998 rs766736665	497	E>G		No	ClinGen ExAC gnomAD
CA7003997 rs761263459	498	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7003996 rs773406652	498	R>K		No	ClinGen ExAC
rs1471630583 CA388283836	500	Q>*		No	ClinGen gnomAD
rs374287576 CA252165334	502	M>V		No	ClinGen ESP TOPMed
rs1323372629 CA388283798	503	K>M		No	ClinGen TOPMed
CA388283789 rs934916031	505	V>I		No	ClinGen TOPMed gnomAD
rs934916031 CA252165331	505	V>L		No	ClinGen TOPMed gnomAD
CA7003987 rs777408410	507	D>G		No	ClinGen ExAC gnomAD
CA388283757 rs1329135964	509	E>G		No	ClinGen gnomAD
TCGA novel	513	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388283640 rs1566400013	517	H>R		No	ClinGen Ensembl
CA7003984 rs61737965	517	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779210082 CA7003983	518	L>V		No	ClinGen ExAC TOPMed gnomAD
CA388283616 rs1446913080	519	R>K		No	ClinGen gnomAD
rs755263421 CA7003982	520	Q>K		No	ClinGen ExAC gnomAD
rs753809726 CA7003981	522	C>Y		No	ClinGen ExAC gnomAD
CA7003980 rs201972898	523	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1290538272 CA388283525	524	A>G		No	ClinGen gnomAD
rs756543660 CA7003979	525	K>E		No	ClinGen ExAC TOPMed gnomAD
CA388283511 rs1384788807	525	K>R		No	ClinGen gnomAD
TCGA novel	528	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7003977 rs762103367	530	V>G		No	ClinGen ExAC gnomAD
CA388283370 rs1319082410	530	V>L		No	ClinGen TOPMed gnomAD
CA388283373 rs1319082410	530	V>M		No	ClinGen TOPMed gnomAD
CA252165271 rs773448028	531	H>P		No	ClinGen Ensembl
rs200783908 CA7003975	532	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7003976 rs774714689	532	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs377319895 CA7003974	533	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs941462539 CA252165245	535	G>V		No	ClinGen Ensembl
rs1008054292 CA252165234	537	S>P		No	ClinGen TOPMed
CA7003949 rs772611434	539	I>V		No	ClinGen ExAC gnomAD
rs1274831637 CA388281937	540	S>A		No	ClinGen gnomAD
rs1345443053 CA388281923	541	N>D		No	ClinGen Ensembl
CA7003948 rs369885021	542	S>T		No	ClinGen ESP ExAC
rs981446160 CA252163230	544	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	546	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1173845213 CA388281767	548	A>E		No	ClinGen TOPMed
rs997100716 CA252163228	549	T>K		No	ClinGen Ensembl
rs761871582 CA7003947 RCV000502180	550	S>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs774254446 CA7003946	550	S>N		No	ClinGen ExAC gnomAD
CA388281716 rs1282726330	551	S>R		No	ClinGen gnomAD
rs1347640765 CA388281677	553	R>G		No	ClinGen gnomAD
CA7003945 rs768617033	553	R>T		No	ClinGen ExAC gnomAD
rs749453764 CA7003944	554	F>L		No	ClinGen ExAC gnomAD
rs780259708 CA7003943	554	F>L		No	ClinGen ExAC gnomAD
rs775718986 CA7003941	557	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7003940 rs781284641	562	K>E		No	ClinGen ExAC gnomAD
rs1566394441 CA388281429	564	K>*		No	ClinGen Ensembl
CA7003939 rs201832927	564	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs752112147 CA7003938	565	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	565	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405124932 CA388281394	566	S>Y		No	ClinGen gnomAD
CA7003937 rs778098545	569	S>G		No	ClinGen ExAC gnomAD
CA388281332 rs758864391	569	S>I		No	ClinGen ExAC TOPMed gnomAD
CA388281338 rs758864391	569	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7003936 rs758864391	569	S>T		No	ClinGen ExAC TOPMed gnomAD
rs753006810 CA7003935	570	S>F		No	ClinGen ExAC gnomAD
rs1460824989 CA388281311	571	L>M		No	ClinGen gnomAD
CA388281255 rs1263625240	574	I>V		No	ClinGen TOPMed gnomAD
CA7003934 rs765998324	575	F>L		No	ClinGen ExAC
CA388281211 rs1282749857	577	R>W		No	ClinGen TOPMed
TCGA novel	578	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1280973355 CA388279098	579	A>G		No	ClinGen TOPMed
TCGA novel	579	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388279106 rs1412044964	579	A>T		No	ClinGen TOPMed
CA388279055 rs1310818068	582	M>L		No	ClinGen gnomAD
rs753056319 CA7003919	584	G>A		No	ClinGen ExAC TOPMed gnomAD
CA252158390 rs977504265	584	G>C		No	ClinGen Ensembl
rs753056319 CA388279023	584	G>D		No	ClinGen ExAC TOPMed gnomAD
rs753056319 CA7003918	584	G>V		No	ClinGen ExAC TOPMed gnomAD
CA252158364 rs539596786	585	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539596786 CA7003917	585	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1316152118 CA388279019	585	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs750145883 CA252158352	587	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7003916 rs755759440	587	G>R		No	ClinGen ExAC gnomAD
CA7003915 rs750145883	587	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1013452725 CA252158336	588	S>T		No	ClinGen gnomAD
CA388278929 rs1489812890	592	F>S		No	ClinGen TOPMed
CA388278906 rs1423594840	594	R>Q		No	ClinGen gnomAD
rs201208079 CA7003912	594	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1385708396 CA388278893	596	N>S		No	ClinGen gnomAD
rs764047031 CA7003911	597	S>G		No	ClinGen ExAC gnomAD
rs894953068 CA252158310	598	L>F		No	ClinGen TOPMed gnomAD
rs983334282 CA252158291	598	L>P		No	ClinGen TOPMed gnomAD
rs762833715 CA388278878	599	A>P		No	ClinGen ExAC gnomAD
rs762833715 CA7003910	599	A>T		No	ClinGen ExAC gnomAD
CA388278856 rs1294909567	602	K>T		No	ClinGen gnomAD
CA388278755 rs1298527179	604	Y>C		No	ClinGen gnomAD
rs587780478 RCV000118583 CA231547	604	Y>D		No	ClinGen ClinVar Ensembl dbSNP
rs202243614 CA7003880	605	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202243614 CA252157438	605	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7003879 rs751779544	608	D>N		No	ClinGen ExAC TOPMed gnomAD
CA388278708 rs1383780810	609	S>P		No	ClinGen TOPMed
CA252157421 rs1035025390	611	P>L		No	ClinGen Ensembl
CA388278687 rs1174397070	611	P>S		No	ClinGen gnomAD
rs1430033779 CA388278659	613	T>I		No	ClinGen gnomAD
rs1243759163 CA388278660	613	T>S		No	ClinGen gnomAD
rs780599874 CA7003877	614	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388278639 rs1250268962	615	P>A		No	ClinGen gnomAD
rs777325038 CA7003874	615	P>L		No	ClinGen ExAC gnomAD
rs757913995 CA7003873	616	A>V		No	ClinGen ExAC gnomAD
TCGA novel	617	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753588959 CA7003869	618	P>S		No	ClinGen ExAC gnomAD
rs753588959 CA7003870	618	P>T		No	ClinGen ExAC gnomAD
CA7003868 RCV000500099 VAR_061891 rs56223054	619	P>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7003867 rs760864068	620	S>P		No	ClinGen ExAC gnomAD
CA252157341 rs888445750	621	S>L		No	ClinGen TOPMed
rs778141798 CA252157324	622	A>G		No	ClinGen Ensembl
CA388278548 rs1334736302	623	W>R		No	ClinGen gnomAD
rs370392992 CA7003865 COSM3943260	623	W>S	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA7003864 rs761729842	624	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA252157306 rs761729842	624	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA388278512 rs1380532393	625	T>M		No	ClinGen TOPMed gnomAD
rs1403070914 CA388278480	628	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA252157266 rs552118850	629	E>K		No	ClinGen 1000Genomes
rs149166053 CA7003861	631	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202043216 CA7003859	632	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1183029321 CA388278433	633	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7003858 rs542549973	634	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771771231 CA7003856 COSM948415	637	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1052185750 CA252157219	637	R>Q		No	ClinGen TOPMed
rs778423955 CA388278400	639	R>G		No	ClinGen ExAC TOPMed gnomAD
rs778423955 CA7003855	639	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1159124272 CA388278393	640	A>T		No	ClinGen TOPMed
CA388278384 rs1280129100	640	A>V		No	ClinGen gnomAD
CA7003853 rs754877249	641	H>Y		No	ClinGen ExAC gnomAD
CA7003851 rs779810199	642	T>A		No	ClinGen ExAC gnomAD
rs1417664552 CA388278361	642	T>M		No	ClinGen TOPMed
rs922297307 CA252157202	644	S>G		No	ClinGen TOPMed
CA252157193 rs976411667	644	S>R		No	ClinGen TOPMed
rs767575575 CA7003847	646	P>L		No	ClinGen ExAC gnomAD
rs942635940 CA252157186	646	P>T		No	ClinGen TOPMed
rs1342136597 CA388278301	647	P>A		No	ClinGen gnomAD
rs911128404 CA252157164	647	P>R		No	ClinGen TOPMed
rs762129447 CA388278275	649	S>I		No	ClinGen ExAC gnomAD
CA7003846 rs762129447	649	S>N		No	ClinGen ExAC gnomAD
rs1239828963 CA388278282	649	S>R		No	ClinGen TOPMed
rs1384311209 CA388278267	650	T>A		No	ClinGen gnomAD
rs369912025 CA7003844	652	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA388278215 rs1225200176	653	K>N		No	ClinGen TOPMed
CA252157150 rs952594990	653	K>R		No	ClinGen TOPMed
rs1383850729 CA388278170	657	Q>R		No	ClinGen gnomAD
CA388278153 rs1292873359	658	D>V		No	ClinGen TOPMed
rs1445779030 CA388278121	661	A>S		No	ClinGen gnomAD
TCGA novel	661	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239672381 CA388278115	662	Q>*		No	ClinGen gnomAD
rs1190435476 CA388278095	663	G>A		No	ClinGen gnomAD
rs763544787 CA7003843	664	V>M		No	ClinGen ExAC gnomAD
CA7003842 rs376333903	665	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7003841 rs770428762	665	R>H		No	ClinGen ExAC TOPMed gnomAD
rs770428762 CA388278073	665	R>L		No	ClinGen ExAC TOPMed gnomAD
CA388278080 rs376333903	665	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388278053 rs1489716591	667	P>R		No	ClinGen gnomAD
rs960108726 CA252157105	667	P>S		No	ClinGen TOPMed
rs759763499 CA7003840	668	L>V		No	ClinGen ExAC gnomAD
rs1246380655 CA388278037	669	L>R		No	ClinGen TOPMed gnomAD
CA388278034 rs1358427240	670	R>G		No	ClinGen gnomAD
CA388278032 rs1393773667	670	R>K		No	ClinGen gnomAD
rs1378407523 CA388278021	671	Q>H		No	ClinGen TOPMed gnomAD
CA252157096 rs1035694788	673	S>F		No	ClinGen TOPMed
CA388277999 rs1325991721	674	S>R		No	ClinGen gnomAD
CA7003837 rs747873050	677	C>G		No	ClinGen ExAC gnomAD
TCGA novel	677	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1457199337 CA388277955	678	S>R		No	ClinGen TOPMed
CA388277409 rs1423777538	679	N>Y		No	ClinGen TOPMed
CA7003824 rs760122567	680	L>F		No	ClinGen ExAC gnomAD
CA7003823 rs760122567	680	L>I		No	ClinGen ExAC gnomAD
rs1002707473 CA252155592	681	S>A		No	ClinGen gnomAD
rs372617227 CA7003822	681	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs774057082 CA388277350	683	V>I		No	ClinGen ExAC TOPMed gnomAD
rs774057082 CA7003819	683	V>L		No	ClinGen ExAC TOPMed gnomAD
RCV000118586 RCV000968695 CA214710 rs61736969	684	R>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7003818 rs775000830	685	R>C		No	ClinGen ExAC gnomAD
rs370935722 COSM1267472 CA7003817	685	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA252155562 rs370935722	685	R>L		No	ClinGen ESP ExAC gnomAD
CA388277303 rs745870416	686	M>R		No	ClinGen ExAC TOPMed gnomAD
CA7003815 rs745870416	686	M>T		No	ClinGen ExAC TOPMed gnomAD
CA388277209 rs1299009293	691	N>I		No	ClinGen TOPMed
CA388277160 rs1230967969	695	S>R		No	ClinGen gnomAD
rs898137808 CA252155533	701	T>N		No	ClinGen TOPMed gnomAD
CA7003812 rs757147621	701	T>P		No	ClinGen ExAC gnomAD
CA388277049 rs1201654170	702	S>A		No	ClinGen gnomAD
TCGA novel	703	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA252155531 rs1036748227	704	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs746805947 CA7003811	705	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1234026923 CA388277009	705	A>V		No	ClinGen TOPMed
CA7003810 rs778084126	706	P>L		No	ClinGen ExAC gnomAD
CA252155502 rs920797884	706	P>S		No	ClinGen TOPMed gnomAD
CA388276979 rs1218386794	709	T>I		No	ClinGen TOPMed
rs755416486 CA7003806	710	A>D		No	ClinGen ExAC gnomAD
CA7003807 rs752787212	710	A>S		No	ClinGen ExAC TOPMed
CA7003805 rs755416486	710	A>V		No	ClinGen ExAC gnomAD
rs754425662 CA7003804	711	P>A		No	ClinGen ExAC gnomAD
CA388276960 rs367949732	711	P>H		No	ClinGen TOPMed gnomAD
rs367949732 CA252155460	711	P>R		No	ClinGen TOPMed gnomAD
rs773577150 CA7003801	712	S>F		No	ClinGen ExAC
CA388276945 rs1405286034	712	S>P		No	ClinGen TOPMed gnomAD
CA7003800 rs763684864	715	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs184766279 CA7003799	716	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375371357 CA7003796	719	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA388276830 rs1236977334	719	Q>R		No	ClinGen gnomAD
rs921535464 CA252155411	723	R>G		No	ClinGen TOPMed
CA252155406 rs908312235	723	R>K		No	ClinGen TOPMed
CA7003793 rs746752796	726	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1566378624 CA388276695	728	Y>*		No	ClinGen Ensembl
CA388276663 rs1325532958	730	N>K		No	ClinGen TOPMed
CA252155384 rs981132980	733	R>G		No	ClinGen TOPMed
COSM948414 CA7003771 rs542340330	736	T>A	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1390896844 CA388275340	737	A>G		No	ClinGen TOPMed
CA7003770 rs749337384	737	A>T		No	ClinGen ExAC gnomAD
CA7003769 rs780026066	739	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA388275256 rs1417473091	741	S>N		No	ClinGen gnomAD
TCGA novel	743	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1212222071 CA388273394	745	G>R		No	ClinGen TOPMed
CA388273369 rs1332011697	747	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199561684 CA252140118	748	R>K		No	ClinGen Ensembl
CA252140117 rs930419264	749	T>N		No	ClinGen gnomAD
CA388273341 rs1451444603	751	S>P		No	ClinGen TOPMed
rs149821147 RCV000118587 RCV000948925 CA214712	752	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7003749 rs182826303	752	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388273335 rs149821147	752	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7003748 rs764057883	753	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA7003746 rs369238359	755	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327060498 CA388273298	757	S>F		No	ClinGen TOPMed gnomAD
CA388273293 rs1237942471	758	L>Q		No	ClinGen gnomAD
CA388273280 rs1295269299	760	V>M		No	ClinGen TOPMed
rs1391299571 CA388273273	761	G>E		No	ClinGen TOPMed
rs1179891601 CA388273265	762	G>E		No	ClinGen gnomAD
rs753489167 CA7003745	765	V>G		No	ClinGen ExAC gnomAD
CA388273246 rs1236740250	766	T>A		No	ClinGen Ensembl
CA7003744 rs760687347	768	R>C		No	ClinGen ExAC TOPMed gnomAD
rs375726955 CA7003743	768	R>H		No	ClinGen ESP ExAC gnomAD
CA7003741 rs371522134	769	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7003742 rs774632711	769	R>W		No	ClinGen ExAC TOPMed gnomAD
rs370075905 CA7003740	775	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7003739 rs375938256	775	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA388273191 rs375938256	775	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs372388426 CA252140020	778	L>F		No	ClinGen ESP
rs1566367016 CA388273169	779	R>G		No	ClinGen Ensembl
rs763841825 CA7003738	779	R>K		No	ClinGen ExAC
CA388273165 rs1332300064	779	R>S		No	ClinGen TOPMed gnomAD
rs1395485807 CA388273162	780	V>I		No	ClinGen gnomAD
CA388273157 rs1402961477	781	A>T		No	ClinGen gnomAD
rs1356219597 CA388273145	783	P>T		No	ClinGen TOPMed
CA7003737 rs200626177	784	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1566366939 CA388273138	784	M>V		No	ClinGen Ensembl
rs527354382 CA7003735	785	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA252139971 rs897531751	786	K>Q		No	ClinGen TOPMed
CA7003734 rs745904060	786	K>R		No	ClinGen ExAC TOPMed gnomAD
CA388273118 rs1250582317	787	S>T		No	ClinGen TOPMed
rs1385237086 CA388273102	789	S>*		No	ClinGen gnomAD
rs766459051 CA7003733	790	A>G		No	ClinGen ExAC gnomAD
rs1416811652 CA388273098	790	A>S		No	ClinGen TOPMed
rs766459051 CA388273096	790	A>V		No	ClinGen ExAC gnomAD
CA7003732 rs763122563	791	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7003731 rs747520900	792	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA7003730 rs199823040	793	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203076207 CA388273069	794	Q>R		No	ClinGen TOPMed gnomAD
rs1317306828 CA388273030	798	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA388273011 rs185811577	800	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769539127 CA7003707	801	E>K		No	ClinGen ExAC gnomAD
CA7003706 rs745564206	806	S>P		No	ClinGen ExAC TOPMed gnomAD
CA7003704 rs756657610	807	P>R		No	ClinGen ExAC TOPMed gnomAD
CA252137702 rs193089072	808	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs193089072 CA388272971	808	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	808	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7003701 rs193089072	808	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7003699 rs374479643	809	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1303375299 CA388272956	810	P>R		No	ClinGen TOPMed
rs1453289417 CA388272949	811	T>A		No	ClinGen TOPMed gnomAD
CA7003698 rs759744094	811	T>N		No	ClinGen ExAC
CA388272951 rs1453289417	811	T>P		No	ClinGen TOPMed gnomAD
rs1453289417 CA388272953	811	T>S		No	ClinGen TOPMed gnomAD
CA388272934 rs1299815686	812	M>T		No	ClinGen TOPMed
rs1270848428 CA388272939	812	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	814	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7003697 rs754128709	814	E>K		No	ClinGen ExAC
rs766624952 CA7003696	816	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388272866 rs766624952	816	P>R		No	ClinGen ExAC TOPMed gnomAD
CA214715 rs1062087 RCV000118589 RCV001711206 VAR_059855	819	V>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs376118646 CA7003694	822	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA388272777 rs1333157643	823	G>R		No	ClinGen gnomAD
CA7003692 rs531614085	825	D>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1400476297 CA388272729	826	D>E		No	ClinGen gnomAD
rs1363057289 CA388272709	828	E>V		No	ClinGen gnomAD
CA388272699 rs1172123712	829	K>E		No	ClinGen gnomAD
rs769199652 CA7003691	830	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7003689 rs780653532	831	E>D		No	ClinGen ExAC gnomAD
TCGA novel	832	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7003687 rs746462332	836	S>L		No	ClinGen ExAC gnomAD
rs561161105 CA7003686	837	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388272506 rs1178018053	838	E>G		No	ClinGen gnomAD
CA388272449 rs1238878502	841	S>N		No	ClinGen gnomAD
CA388272447 rs1238878502	841	S>T		No	ClinGen gnomAD
CA7003684 rs752692730	845	K>E		No	ClinGen ExAC gnomAD
rs1457749811 CA388272348	846	A>T		No	ClinGen TOPMed
CA7003683 rs778677297	847	I>V		No	ClinGen ExAC TOPMed gnomAD
rs754699392 CA7003682	848	H>Y		No	ClinGen ExAC
rs1245424549 CA388272247	850	Q>L		No	ClinGen TOPMed
rs756385842 CA7003679	852	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7003680 rs766458392	852	L>W		No	ClinGen ExAC TOPMed gnomAD
CA7003678 rs373154447	854	L>I		No	ClinGen ESP ExAC gnomAD
CA388272176 rs1566363500 COSM948412	855	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA388272168 rs1412533181	855	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA388272133 rs1378239130	856	M>I		No	ClinGen gnomAD
rs1332829021 CA388272024	860	N>K		No	ClinGen gnomAD
rs767683595 CA7003677	861	Q>R		No	ClinGen ExAC
CA388271924 rs1445226049	865	A>T		No	ClinGen TOPMed gnomAD
CA7003661 rs779935663	867	R>G		No	ClinGen ExAC gnomAD
rs1413169847 CA388270890	868	D>G		No	ClinGen gnomAD
CA252135125 rs868504167	872	S>Y		No	ClinGen Ensembl
rs373004177 CA7003659	873	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373004177 CA7003660	873	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA388270669 rs1261355128	878	D>G		No	ClinGen gnomAD
rs767489753 CA7003658	879	Y>C		No	ClinGen ExAC gnomAD
rs1488856935 CA388270581	882	V>A		No	ClinGen gnomAD
CA388270567 rs1220014793	883	G>D		No	ClinGen TOPMed gnomAD
rs764657106 CA7003655	885	C>Y		No	ClinGen ExAC gnomAD
CA388270513 rs1234541315	886	Q>E		No	ClinGen gnomAD
CA252135101 rs202064304	888	E>V		No	ClinGen TOPMed
rs1277231076 CA388270447	890	L>S		No	ClinGen gnomAD
CA388270433 rs1400211924	891	I>V		No	ClinGen gnomAD
CA388270418 rs1272960082	892	T>S		No	ClinGen TOPMed
rs369089434 CA7003653	895	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA388270343 rs765695310	896	K>R		No	ClinGen ExAC TOPMed gnomAD
CA7003652 rs765695310	896	K>T		No	ClinGen ExAC TOPMed gnomAD
CA388270327 rs1350358393	897	L>*		No	ClinGen gnomAD
TCGA novel	897	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7003651 rs760242565	900	C>Y		No	ClinGen ExAC gnomAD
rs1480740664 CA388270255	903	K>E		No	ClinGen TOPMed
CA7003650 rs772857668	904	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1593895138 CA388270242	905	R>G		No	ClinGen Ensembl
CA7003649 rs747604452	905	R>I		No	ClinGen ExAC TOPMed gnomAD
CA7003648 rs747604452	905	R>K		No	ClinGen ExAC TOPMed gnomAD
rs375892188 CA7003647	905	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1264320982 CA388270214	908	M>I		No	ClinGen gnomAD
CA388270220 rs1478234406	908	M>V		No	ClinGen gnomAD
CA7003644 rs779699251	911	I>M		No	ClinGen ExAC gnomAD
rs768545937 CA7003646	911	I>T		No	ClinGen ExAC gnomAD
CA7003643 rs756002956	912	H>P		No	ClinGen ExAC gnomAD
rs1315588919 CA388270177	914	L>F		No	ClinGen gnomAD
CA611397707 rs1199702013	915	L>HTLS*		No	ClinGen gnomAD
rs1256861908 CA388270166	916	K>E		No	ClinGen gnomAD
CA611397705 rs1339777709	916	K>IF*		No	ClinGen gnomAD
CA388270165 rs1256861908	916	K>Q		No	ClinGen gnomAD
CA7003642 COSM948411 rs745653179	917	E>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA611397702 rs1275644487	917	E>DI*		No	ClinGen gnomAD
rs1395835973 CA388269619	919	V>D		No	ClinGen gnomAD
CA388269624 rs1312626656	919	V>I		No	ClinGen gnomAD
rs1431502044 CA388269610	920	P>A		No	ClinGen Ensembl
CA388269562 rs1305276262	923	R>*		No	ClinGen TOPMed gnomAD
CA7003628 rs762794443	923	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA7003626 rs184780281	924	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7003625 rs745637358	924	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7003624 rs781174867	925	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1347472326 CA388269543	925	G>R		No	ClinGen Ensembl
TCGA novel	926	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398695660 CA388269483	928	W>*		No	ClinGen TOPMed gnomAD
CA388269479 rs1398695660	928	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	929	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	929	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7003623 rs771256412	929	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1397591964 CA388269456	930	F>L		No	ClinGen gnomAD
CA252130171 rs983778678	934	Q>R		No	ClinGen gnomAD
rs758440723 CA7003619	936	R>*		No	ClinGen ExAC TOPMed gnomAD
rs752736604 CA7003618	936	R>L		No	ClinGen ExAC gnomAD
CA388269361 rs752736604	936	R>Q		No	ClinGen ExAC gnomAD
rs932177107 CA252130137	937	L>P		No	ClinGen TOPMed gnomAD
rs1253459970 CA388269314	939	H>Q		No	ClinGen gnomAD
TCGA novel	940	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388269288 rs1199532037	941	L>S		No	ClinGen gnomAD
CA7003617 rs779424220	944	K>Q		No	ClinGen ExAC gnomAD
CA7003616 rs755469515	944	K>R		No	ClinGen ExAC gnomAD
CA388269235 rs1170103090	945	Q>E		No	ClinGen TOPMed gnomAD
CA252130093 rs976462542	947	P>L		No	ClinGen Ensembl
CA7003614 rs754167403	947	P>S		No	ClinGen ExAC gnomAD
CA388269189 rs1271441720	948	P>S		No	ClinGen TOPMed
CA7003612 rs761441967	950	I>V		No	ClinGen ExAC gnomAD
CA388269153 rs374094872	951	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7003611 rs374094872	951	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1395683271 CA388269137	953	K>R		No	ClinGen gnomAD
CA7003610 rs763738288	958	Q>K		No	ClinGen ExAC gnomAD
rs762466598 CA7003609	958	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	959	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418309158 CA388269091	960	T>A		No	ClinGen gnomAD
rs774895851 CA7003608	962	Q>*		No	ClinGen ExAC gnomAD
CA388269070 rs1455746520	963	Q>*		No	ClinGen gnomAD
CA388269059 rs1186168560	964	H>R		No	ClinGen gnomAD
rs199525693 CA252130012	965	A>E		No	ClinGen ExAC gnomAD
rs199525693 CA388269054	965	A>G		No	ClinGen ExAC gnomAD
rs776555861 CA7003605	965	A>S		No	ClinGen ExAC TOPMed gnomAD
rs199525693 CA7003604	965	A>V		No	ClinGen ExAC gnomAD
rs1032760870 CA252130006	967	L>F		No	ClinGen TOPMed gnomAD
CA388269038 rs1206827981	968	V>E		No	ClinGen gnomAD
CA7003602 rs191516041	968	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388268883 rs1566350765	971	G>E		No	ClinGen Ensembl
CA7003584 rs777125334	973	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7003582 rs768684111	976	T>S		No	ClinGen ExAC gnomAD
rs756634332 CA7003579	978	P>A		No	ClinGen ExAC TOPMed gnomAD
CA7003580 rs756634332	978	P>S		No	ClinGen ExAC TOPMed gnomAD
rs952068112 CA252127252	979	Y>H		No	ClinGen TOPMed gnomAD
rs372765870 CA7003578	982	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA388268816 rs372765870	982	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7003577 rs781460207	983	Q>H		No	ClinGen ExAC gnomAD
CA388268808 rs1425904525	983	Q>R		No	ClinGen TOPMed
rs1396034711 CA388268801	984	L>P		No	ClinGen gnomAD
CA388268800 rs1396034711	984	L>R		No	ClinGen gnomAD
rs752358886 CA252127208	986	P>S		No	ClinGen ExAC gnomAD
rs752358886 CA7003575	986	P>T		No	ClinGen ExAC gnomAD
CA388268782 rs1419739171	988	Q>E		No	ClinGen gnomAD
rs764950291 CA7003574	988	Q>R		No	ClinGen ExAC gnomAD
CA7003573 rs754483905	989	L>R		No	ClinGen ExAC gnomAD
rs1194194251 CA388268770	990	S>L		No	ClinGen TOPMed gnomAD
rs753422774 CA7003572	990	S>P		No	ClinGen ExAC gnomAD
TCGA novel	992	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370816364 CA7003570	994	L>F		No	ClinGen ESP ExAC gnomAD
rs1274045109 CA388268710	999	S>C		No	ClinGen gnomAD
COSM948409 rs1274045109 CA388268709	999	S>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1402396121 CA388268713	999	S>P		No	ClinGen TOPMed
rs1216531818 CA388268696	1002	D>N		No	ClinGen gnomAD
TCGA novel	1004	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767269303 CA7003568 CA388268666	1006	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1235682668 CA388268652	1008	C>R		No	ClinGen gnomAD
rs1394126051 CA388268602	1015	A>S		No	ClinGen TOPMed
rs376022083 CA252127146	1017	V>F		No	ClinGen ESP gnomAD
CA7003566 rs774369423	1017	V>G		No	ClinGen ExAC gnomAD
CA7003563 rs775576113	1019	L>P		No	ClinGen ExAC
CA388268573 rs1354984128	1020	L>P		No	ClinGen TOPMed
rs746434914 CA7003561	1022	M>I		No	ClinGen ExAC gnomAD
CA7003562 rs770265543	1022	M>V		No	ClinGen ExAC TOPMed gnomAD
CA388268549 rs1593878194	1023	S>R		No	ClinGen Ensembl
CA388268548 rs1593878174	1024	E>K		No	ClinGen Ensembl
CA7003560 rs373432604	1027	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1177912952 CA388268471	1034	L>F		No	ClinGen gnomAD
CA388268463 rs1250117845	1035	M>T		No	ClinGen TOPMed
rs1406624406 CA388268466	1035	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA388268454 rs1469747282	1036	Y>C		No	ClinGen gnomAD
rs771134966 CA7003559	1037	D>E		No	ClinGen ExAC gnomAD
CA7003558 rs192204656	1039	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1593878059 CA388268433	1039	G>V		No	ClinGen Ensembl
CA7003557 rs778385364	1041	R>C		No	ClinGen ExAC TOPMed gnomAD
rs199560195 CA252127041	1041	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA252127040 rs960384265	1042	K>R		No	ClinGen Ensembl
rs866481287 CA252127020	1044	Y>C		No	ClinGen Ensembl
rs1185196145 CA388268393	1045	R>S		No	ClinGen TOPMed
CA388268388 rs1240052239	1046	P>L		No	ClinGen gnomAD
CA7003554 rs764721667	1046	P>S		No	ClinGen ExAC TOPMed gnomAD
rs556693931 CA7003553	1048	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs750390358 CA7003552	1049	M>I		No	ClinGen ExAC gnomAD
rs767493446 COSM948407 CA7003551	1050	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA388268362 rs1445388855	1050	S>P		No	ClinGen gnomAD
CA388268347 rs1436412982	1052	Q>H		No	ClinGen gnomAD
CA7003531 rs749960752	1053	I>M		No	ClinGen ExAC gnomAD
CA7003529 rs757249842	1056	Y>F		No	ClinGen ExAC gnomAD
CA7003528 rs189109672	1057	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA252123022 rs756869773	1061	L>F		No	ClinGen Ensembl
CA388268017 rs749959491	1062	L>F		No	ClinGen TOPMed gnomAD
rs749959491 CA252123006	1062	L>I		No	ClinGen TOPMed gnomAD
COSM1367655 CA252122999 rs968705273	1063	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA252122990 rs985426096	1064	D>N		No	ClinGen Ensembl
CA7003524 rs371571756	1065	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7003522 rs776805516	1066	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs759488163 CA7003523	1066	H>Y		No	ClinGen ExAC gnomAD
CA7003521 rs771314852	1067	R>S		No	ClinGen ExAC gnomAD
CA388267974 rs1315633104	1068	D>E		No	ClinGen gnomAD
rs761296235 CA7003520	1069	L>I		No	ClinGen ExAC gnomAD
CA388267964 rs1214987108	1070	Y>C		No	ClinGen gnomAD
rs1566344923 CA388267966	1070	Y>H		No	ClinGen Ensembl
rs1291774755 CA388267949	1072	H>Y		No	ClinGen gnomAD
CA388267938 rs1435668974	1073	L>P		No	ClinGen gnomAD
rs1393850447 CA388267924	1075	E>G		No	ClinGen gnomAD
CA388267918 rs1326602545	1076	N>H		No	ClinGen gnomAD
CA7003518 rs772630267	1076	N>K		No	ClinGen ExAC TOPMed gnomAD
CA388267904 rs1421808159	1078	I>V		No	ClinGen TOPMed gnomAD
CA388267897 rs1322363170	1079	S>G		No	ClinGen gnomAD
CA388267893 rs1371385545	1079	S>I		No	ClinGen TOPMed
rs999597942 CA252122946	1083	Y>C		No	ClinGen Ensembl
CA7003516 rs775223433	1084	A>V		No	ClinGen ExAC gnomAD
rs1189982547 CA388267857	1085	A>P		No	ClinGen gnomAD
CA252122935 rs767520221	1086	P>T		No	ClinGen Ensembl
TCGA novel	1087	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1253111851 CA388267841	1087	W>C		No	ClinGen gnomAD
TCGA novel	1087	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA252122908 rs967250032	1087	W>S		No	ClinGen Ensembl
CA388267829 rs1456047654	1089	L>F		No	ClinGen gnomAD
CA388267813 rs1204761775	1091	L>F		No	ClinGen gnomAD
rs1468516170 CA388267804	1093	A>T		No	ClinGen TOPMed
rs745330609 CA7003513	1093	A>V		No	ClinGen ExAC gnomAD
CA388267787 rs1371588115	1095	Q>H		No	ClinGen gnomAD
TCGA novel	1097	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1443257335 CA388267769	1098	L>*		No	ClinGen gnomAD
TCGA novel	1104	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388267730 rs1398183198	1104	V>L		No	ClinGen gnomAD
rs758366853 CA7003490	1106	D>V		No	ClinGen ExAC gnomAD
rs974050969 CA252120520	1113	T>A		No	ClinGen TOPMed gnomAD
rs1349812447 CA388267557	1115	V>I		No	ClinGen TOPMed gnomAD
rs755146398 CA7003487	1118	K>R		No	ClinGen ExAC TOPMed gnomAD
VAR_061892 RCV000893808 RCV000118584 rs58232698 CA214706	1119	V>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1182416475 CA388267505	1120	A>S		No	ClinGen TOPMed
rs368562871 CA7003485	1122	S>N		No	ClinGen ESP ExAC gnomAD
rs1414394255 CA388267477	1122	S>R		No	ClinGen gnomAD
rs1356511870 CA388267451	1125	S>N		No	ClinGen gnomAD
rs1381054609 CA388267425	1127	Q>*		No	ClinGen gnomAD
CA388267393 rs1384923439	1129	T>I		No	ClinGen gnomAD
CA388267392 rs1279862997	1130	L>I		No	ClinGen gnomAD
rs754740035 CA252120502	1131	I>T		No	ClinGen TOPMed gnomAD
rs547977736 CA7003483	1131	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388267332 rs1415012485	1134	C>S		No	ClinGen gnomAD
rs1361012123 CA388267294	1136	S>I		No	ClinGen TOPMed
rs1448894389 CA388267257	1139	N>S		No	ClinGen TOPMed
rs764587731 CA7003480	1140	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1566341145 CA388267248	1140	I>V		No	ClinGen Ensembl
CA388267212 rs1446186580	1143	F>S		No	ClinGen TOPMed gnomAD
CA388267198 rs1279309297	1144	L>H		No	ClinGen TOPMed
rs962410572 CA252120477	1146	N>Y		No	ClinGen TOPMed
CA252120463 rs890511993	1147	T>A		No	ClinGen gnomAD
RCV001682825 RCV000118592 CA214721 VAR_052534 rs9600455	1147	T>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772751993 CA7003476	1151	M>I		No	ClinGen ExAC gnomAD
CA388267108 rs1335670534	1152	N>Y		No	ClinGen gnomAD
CA388267064 rs1326195567	1156	M>I		No	ClinGen gnomAD
TCGA novel	1157	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566340953 CA388267054	1157	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	1159	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1159	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388267012 rs1435217253	1161	T>N		No	ClinGen gnomAD
rs748145711 CA7003474	1161	T>S		No	ClinGen ExAC gnomAD
TCGA novel	1163	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7003449 rs201152813	1163	V>G		No	ClinGen ExAC gnomAD
CA252117597 rs1007484811	1164	F>I		No	ClinGen Ensembl
rs78882723 CA7003445	1165	E>*		No	ClinGen gnomAD
CA7003442 rs758871058	1165	E>D		No	ClinGen ExAC gnomAD
CA7003444 rs778305966	1165	E>G		No	ClinGen ExAC gnomAD
CA7003446 rs78882723	1165	E>Q		No	ClinGen gnomAD
rs778305966 CA7003443	1165	E>V		No	ClinGen ExAC gnomAD
rs753086826 CA7003440	1166	M>I		No	ClinGen ExAC
TCGA novel	1170	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7003439 rs765582637	1171	Q>P		No	ClinGen ExAC gnomAD
CA252117539 rs889068090	1174	A>G		No	ClinGen Ensembl
rs889068090 CA388266134	1174	A>V		No	ClinGen Ensembl
rs1197972676 CA388266121	1175	Y>C		No	ClinGen gnomAD
CA388266064 rs1593856644	1177	V>G		No	ClinGen Ensembl
rs1346147402 CA388266017	1180	H>N		No	ClinGen gnomAD
CA7003436 rs767167235	1183	Q>R		No	ClinGen ExAC gnomAD
CA388265913 rs1277207156	1185	E>K		No	ClinGen gnomAD
rs761260860 CA7003435	1187	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1188	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335941124 CA388265836	1188	E>G		No	ClinGen gnomAD
TCGA novel	1189	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA252117476 rs762526748	1192	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA388265786 rs1330448139	1192	S>P		No	ClinGen gnomAD
rs377254088 CA7003434	1193	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA252117460 rs1054377240	1195	D>V		No	ClinGen TOPMed
CA388265677 rs1174189148	1197	E>D		No	ClinGen gnomAD
rs1436442990 CA388265657	1199	L>S		No	ClinGen gnomAD
rs1427378976 CA388265609	1202	L>M		No	ClinGen TOPMed gnomAD
rs1427378976 CA388265607	1202	L>V		No	ClinGen TOPMed gnomAD
CA388265586 rs1156847859	1203	E>G		No	ClinGen gnomAD
rs1469660373 CA388265555	1204	R>S		No	ClinGen gnomAD
CA388265539 rs1184602891	1206	N>H		No	ClinGen gnomAD
CA214723 RCV000118593 rs76851570	1206	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs769777796 CA7003431	1209	L>V		No	ClinGen ExAC TOPMed gnomAD
CA388265415 rs1265510729	1211	R>K		No	ClinGen TOPMed
CA388265397 rs1350622995	1212	Q>E		No	ClinGen TOPMed gnomAD
CA388265380 rs1281563515	1213	N>Y		No	ClinGen gnomAD
CA7003429 rs377426752	1214	M>I		No	ClinGen ESP ExAC TOPMed
CA388265341 rs1350750048	1214	M>T		No	ClinGen gnomAD
CA7003430 rs745672517	1214	M>V		No	ClinGen ExAC gnomAD
rs1252525928 CA388265315	1215	D>E		No	ClinGen TOPMed
rs771311543 CA7003428	1215	D>G		No	ClinGen ExAC
CA388265307 rs1412464670	1216	L>H		No	ClinGen gnomAD
rs1354592957 CA388265291	1217	L>R		No	ClinGen gnomAD
TCGA novel	1220	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1220	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7003400 rs749619931	1230	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7003399 rs780444202	1232	S>A		No	ClinGen ExAC TOPMed gnomAD
CA388264806 rs780444202	1232	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1238	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7003397 rs751235680	1238	L>S		No	ClinGen ExAC gnomAD
rs375003443 CA7003396	1239	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1566334395 CA388264662	1240	R>S		No	ClinGen Ensembl
rs1304472649 CA388264660	1241	E>K		No	ClinGen TOPMed gnomAD
rs1223313109 CA388264626	1243	K>*		No	ClinGen gnomAD
TCGA novel	1243	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1056934879 CA252115449	1244	M>I		No	ClinGen Ensembl
rs1593852319 CA388264613	1244	M>V		No	ClinGen Ensembl
CA388264564 rs1294517733	1246	S>C		No	ClinGen gnomAD
rs1305560775 CA388264571	1246	S>P		No	ClinGen gnomAD
TCGA novel	1246	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765237270 CA7003393	1249	R>P		No	ClinGen ExAC TOPMed gnomAD
rs765237270 CA7003394	1249	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201344804 CA7003395	1249	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1251	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301123010 CA388264507	1251	L>P		No	ClinGen gnomAD
rs753675079 CA388264479	1252	E>D		No	ClinGen ExAC TOPMed gnomAD
rs759597608 CA7003392	1252	E>V		No	ClinGen ExAC gnomAD
RCV000118976 CA214732 rs61737963	1254	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388264437 rs1459586790	1256	M>V		No	ClinGen gnomAD
CA252115389 rs1044320663	1257	A>V		No	ClinGen Ensembl
rs1353143425 CA388264399	1258	Y>D		No	ClinGen TOPMed gnomAD
CA7003390 rs760527463	1261	T>S		No	ClinGen ExAC gnomAD
CA7003389 rs773254773	1262	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1192291085 CA388264320	1263	E>G		No	ClinGen gnomAD
CA388264328 rs1392620144	1263	E>K		No	ClinGen gnomAD
CA252115382 rs772357617	1264	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1392241827 CA388264303	1264	Q>R		No	ClinGen gnomAD
rs202186099 CA388264272	1266	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs202186099 CA7003385	1266	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs367591642 CA7003386	1266	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1269	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749850246 CA7003384	1270	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM3384895 rs185278132 CA7003382	1271	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1278181210 CA388264212	1271	A>V		No	ClinGen TOPMed gnomAD
CA388264178 rs1370354343	1273	A>V		No	ClinGen gnomAD
CA214734 rs557337 VAR_052535 RCV000118977	1275	V>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000503889 rs199954281 CA7003380	1276	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388264096 rs1272000762	1279	L>P		No	ClinGen TOPMed gnomAD
rs148486011 CA7003379	1279	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766357042 CA7003375	1283	D>N		No	ClinGen ExAC gnomAD
CA388264021 rs766357042	1283	D>Y		No	ClinGen ExAC gnomAD
CA252115224 VAR_054862 rs11616741	1284	L>I		No	ClinGen UniProt ESP ExAC dbSNP
CA7003373 rs181483246	1286	C>*		No	ClinGen 1000Genomes ExAC gnomAD
rs767600292 CA7003372	1287	N>S		No	ClinGen ExAC gnomAD
rs1593851779 CA388263947	1288	P>H		No	ClinGen Ensembl
rs1593851792 CA388263960	1288	P>S		No	ClinGen Ensembl
CA7003371 rs762068295	1289	N>K		No	ClinGen ExAC gnomAD
TCGA novel	1291	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388263909 rs1395186626	1292	A>T		No	ClinGen gnomAD
CA252115136 rs997744980	1293	K>N		No	ClinGen TOPMed
rs774398726 CA7003370	1294	I>L		No	ClinGen ExAC gnomAD
CA252115119 rs902088918	1294	I>M		No	ClinGen TOPMed
rs1039209977 CA252115118	1295	G>R		No	ClinGen TOPMed gnomAD
rs1247579289 CA388263870	1296	N>D		No	ClinGen TOPMed
CA388263854 rs1321742010	1297	K>T		No	ClinGen gnomAD

1 associated diseases with O60343

[MIM: 616087]: Diabetes mellitus, non-insulin-dependent, 5 (NIDDM5)

A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:25043022}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:25043022}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

4 regional properties for O60343

Type	Name	Position	InterPro Accession
domain	Rab-GAP-TBC domain	915 - 1135	IPR000195
domain	PTB/PI domain	31 - 191	IPR006020-1
domain	PTB/PI domain	197 - 450	IPR006020-2
domain	Domain of unknown function DUF3350	801 - 864	IPR021785

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm	Isoform 2 shows a cytoplasmic perinuclear localization in a myoblastic cell line in resting and insulin-stimulated cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
vesicle	Any small, fluid-filled, spherical organelle enclosed by membrane.

1 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.

4 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
cellular response to insulin stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
negative regulation of vesicle fusion	Any process that stops, prevents, or reduces the frequency, rate or extent of vesicle fusion.
vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

27 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8WUA7	TBC1D22A	TBC1 domain family member 22A	Homo sapiens (Human)	PR
Q8IZP1	TBC1D3	TBC1 domain family member 3	Homo sapiens (Human)	PR
Q6IPX1	TBC1D3C	TBC1 domain family member 3C	Homo sapiens (Human)	PR
B9A6J9	TBC1D3L	TBC1 domain family member 3L	Homo sapiens (Human)	PR
A0A087WVF3	TBC1D3D	TBC1 domain family member 3D	Homo sapiens (Human)	PR
A6NER0	TBC1D3F	TBC1 domain family member 3F	Homo sapiens (Human)	PR
A0A087WXS9	TBC1D3I	TBC1 domain family member 3I	Homo sapiens (Human)	PR
Q6DHY5	TBC1D3G	TBC1 domain family member 3G	Homo sapiens (Human)	PR
A0A087X179	TBC1D3E	TBC1 domain family member 3E	Homo sapiens (Human)	PR
A0A087X1G2	TBC1D3K	TBC1 domain family member 3K	Homo sapiens (Human)	PR
P0C7X1	TBC1D3H	TBC1 domain family member 3H	Homo sapiens (Human)	PR
A6NDS4	TBC1D3B	TBC1 domain family member 3B	Homo sapiens (Human)	PR
Q8IV04	TBC1D10C	Carabin	Homo sapiens (Human)	PR
Q5TC63	GRTP1	Growth hormone-regulated TBC protein 1	Homo sapiens (Human)	PR
Q86TI0	TBC1D1	TBC1 domain family member 1	Homo sapiens (Human)	PR
O60447	EVI5	Ecotropic viral integration site 5 protein homolog	Homo sapiens (Human)	PR
Q3MII6	TBC1D25	TBC1 domain family member 25	Homo sapiens (Human)	PR
Q2NKQ1	SGSM1	Small G protein signaling modulator 1	Homo sapiens (Human)	PR
Q9HA65	TBC1D17	TBC1 domain family member 17	Homo sapiens (Human)	PR
Q8TC07	TBC1D15	TBC1 domain family member 15	Homo sapiens (Human)	PR
O95759	TBC1D8	TBC1 domain family member 8	Homo sapiens (Human)	PR
Q0IIM8	TBC1D8B	TBC1 domain family member 8B	Homo sapiens (Human)	PR
Q66K14	TBC1D9B	TBC1 domain family member 9B	Homo sapiens (Human)	PR
Q6ZT07	TBC1D9	TBC1 domain family member 9	Homo sapiens (Human)	PR
Q8TEA7	TBCK	TBC domain-containing protein kinase-like protein	Homo sapiens (Human)	PR
Q9UPU7	TBC1D2B	TBC1 domain family member 2B	Homo sapiens (Human)	PR
Q8BYJ6	Tbc1d4	TBC1 domain family member 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEPPSCIQDE	PFPHPLEPEP	GVSAQPGPGK	PSDKRFRLWY	VGGSCLDHRT	TLPMLPWLMA
70	80	90	100	110	120
EIRRRSQKPE	AGGCGAPAAR	EVILVLSAPF	LRCVPAPGAG	ASGGTSPSAT	QPNPAVFIFE
130	140	150	160	170	180
HKAQHISRFI	HNSHDLTYFA	YLIKAQPDDP	ESQMACHVFR	ATDPSQVPDV	ISSIRQLSKA
190	200	210	220	230	240
AMKEDAKPSK	DNEDAFYNSQ	KFEVLYCGKV	TVTHKKAPSS	LIDDCMEKFS	LHEQQRLKIQ
250	260	270	280	290	300
GEQRGPDPGE	DLADLEVVVP	GSPGDCLPEE	ADGTDTHLGL	PAGASQPALT	SSRVCFPERI
310	320	330	340	350	360
LEDSGFDEQQ	EFRSRCSSVT	GVQRRVHEGS	QKSQPRRRHA	SAPSHVQPSD	SEKNRTMLFQ
370	380	390	400	410	420
VGRFEINLIS	PDTKSVVLEK	NFKDISSCSQ	GIKHVDHFGF	ICRESPEPGL	SQYICYVFQC
430	440	450	460	470	480
ASESLVDEVM	LTLKQAFSTA	AALQSAKTQI	KLCEACPMHS	LHKLCERIEG	LYPPRAKLVI
490	500	510	520	530	540
QRHLSSLTDN	EQADIFERVQ	KMKPVSDQEE	NELVILHLRQ	LCEAKQKTHV	HIGEGPSTIS
550	560	570	580	590	600
NSTIPENATS	SGRFKLDILK	NKAKRSLTSS	LENIFSRGAN	RMRGRLGSVD	SFERSNSLAS
610	620	630	640	650	660
EKDYSPGDSP	PGTPPASPPS	SAWQTFPEED	SDSPQFRRRA	HTFSHPPSST	KRKLNLQDGR
670	680	690	700	710	720
AQGVRSPLLR	QSSSEQCSNL	SSVRRMYKES	NSSSSLPSLH	TSFSAPSFTA	PSFLKSFYQN
730	740	750	760	770	780
SGRLSPQYEN	EIRQDTASES	SDGEGRKRTS	STCSNESLSV	GGTSVTPRRI	SWRQRIFLRV
790	800	810	820	830	840
ASPMNKSPSA	MQQQDGLDRN	ELLPLSPLSP	TMEEEPLVVF	LSGEDDPEKI	EERKKSKELR
850	860	870	880	890	900
SLWRKAIHQQ	ILLLRMEKEN	QKLEASRDEL	QSRKVKLDYE	EVGACQKEVL	ITWDKKLLNC
910	920	930	940	950	960
RAKIRCDMED	IHTLLKEGVP	KSRRGEIWQF	LALQYRLRHR	LPNKQQPPDI	SYKELLKQLT
970	980	990	1000	1010	1020
AQQHAILVDL	GRTFPTHPYF	SVQLGPGQLS	LFNLLKAYSL	LDKEVGYCQG	ISFVAGVLLL
1030	1040	1050	1060	1070	1080
HMSEEQAFEM	LKFLMYDLGF	RKQYRPDMMS	LQIQMYQLSR	LLHDYHRDLY	NHLEENEISP
1090	1100	1110	1120	1130	1140
SLYAAPWFLT	LFASQFSLGF	VARVFDIIFL	QGTEVIFKVA	LSLLSSQETL	IMECESFENI
1150	1160	1170	1180	1190	1200
VEFLKNTLPD	MNTSEMEKII	TQVFEMDISK	QLHAYEVEYH	VLQDELQESS	YSCEDSETLE
1210	1220	1230	1240	1250	1260
KLERANSQLK	RQNMDLLEKL	QVAHTKIQAL	ESNLENLLTR	ETKMKSLIRT	LEQEKMAYQK
1270	1280	1290
TVEQLRKLLP	ADALVNCDLL	LRDLNCNPNN	KAKIGNKP