AiPD: Autoinhibited Protein Database

Q86TI0

Gene name	TBC1D1 (KIAA1108)
Protein name	TBC1 domain family member 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23216
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

467-710 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

467-710 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

2 structures for Q86TI0

Entry ID	Method	Resolution	Chain	Position	Source
3QYE	X-ray	220 A	A/B	746-1072	PDB
AF-Q86TI0-F1	Predicted				AlphaFoldDB

1008 variants for Q86TI0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1175260940 CA356556031	2	E>*		No	ClinGen gnomAD
rs1329261545 CA356556040	3	P>Q		No	ClinGen TOPMed
CA356556037 rs1421205596	3	P>T		No	ClinGen gnomAD
CA2887191 rs761767256	4	I>T		No	ClinGen ExAC gnomAD
CA2887190 rs774256685	4	I>V		No	ClinGen ExAC gnomAD
CA356556052 rs1175329603	5	T>I		No	ClinGen gnomAD
CA2887192 rs767433445	6	F>L		No	ClinGen ExAC gnomAD
CA356556065 rs1468321609	7	T>I		No	ClinGen gnomAD
rs914666512 CA95559654	8	A>S		No	ClinGen TOPMed
CA2887193 rs750319549	10	K>R		No	ClinGen ExAC gnomAD
rs1328129332 CA356556088	11	H>Y		No	ClinGen Ensembl
rs1399816951 CA356556095	12	L>V		No	ClinGen TOPMed
rs2279027 CA356556106	14	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2279027 CA2887194 VAR_028089	14	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2279027 CA356556105	14	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA95559658 rs144039014	15	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3825796 rs753335447 CA2887196	16	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs371619257 CA2887197	18	S>L		No	ClinGen ESP ExAC gnomAD
CA356556134 rs371619257	18	S>W		No	ClinGen ESP ExAC gnomAD
rs376073388 CA2887200	21	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA95559680 rs1031839304	22	G>R		No	ClinGen Ensembl
TCGA novel	22	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356556177 rs1331641933	25	L>P		No	ClinGen gnomAD
CA356556189 rs1202060622	27	G>A		No	ClinGen gnomAD
rs1182970964 CA356556195	28	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1488705276 CA356556202	30	P>T		No	ClinGen gnomAD
rs1255691022 CA356556210	31	V>M		No	ClinGen TOPMed
CA356556218 rs1190507133	32	H>R		No	ClinGen TOPMed gnomAD
rs771365715 CA2887203	33	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs781311931 CA2887204	35	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1577756912 CA356556240	36	T>N		No	ClinGen Ensembl
CA2887205 rs745975152	37	M>T		No	ClinGen ExAC gnomAD
rs1168642815 CA356556251	38	P>S		No	ClinGen gnomAD
rs1003999424 CA95559704	39	M>V		No	ClinGen TOPMed gnomAD
CA2887207 rs775796217	43	V>A		No	ClinGen ExAC gnomAD
CA2887206 rs770136520	43	V>L		No	ClinGen ExAC gnomAD
rs369686577 CA2887208	45	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs369686577 CA356556296	45	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA95559712 rs541770823	45	A>V		No	ClinGen Ensembl
CA356556303 rs1402458160	46	E>G		No	ClinGen gnomAD
CA356556309 rs1316794259	47	V>G		No	ClinGen gnomAD
CA95559713 rs962496993	47	V>M		No	ClinGen TOPMed
rs772903503 COSM1670938 CA2887210	48	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs760635855 CA2887211 COSM1753716	48	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA356556322 rs1577757239	50	L>F		No	ClinGen Ensembl
CA2887213 rs776196008	50	L>R		No	ClinGen ExAC gnomAD
rs1489222747 CA356556335	52	R>G		No	ClinGen gnomAD
CA95559733 rs866513395	54	S>F		No	ClinGen Ensembl
rs1022295476 CA356556355	55	T>A		No	ClinGen TOPMed
VAR_028090 CA2887216 rs4008480	55	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1022295476 CA95559740	55	T>P		No	ClinGen TOPMed
CA2887218 rs375973693	58	E>A		No	ClinGen ESP ExAC TOPMed
rs985081352 CA95559752	59	P>H		No	ClinGen TOPMed gnomAD
CA2887219 rs751919330	61	T>P		No	ClinGen ExAC TOPMed gnomAD
CA2887220 rs369705792	65	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1364146669 CA356556489	66	L>F		No	ClinGen gnomAD
rs565418024 CA2887222	68	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356556550 rs1428061287	70	P>A		No	ClinGen gnomAD
COSM1310032 rs1285525919 CA356556569	71	S>F	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	74	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780311932 CA2887224	75	C>Y		No	ClinGen ExAC gnomAD
rs749470558 CA2887225	79	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1236437494 CA356556694	80	G>E		No	ClinGen TOPMed
rs1270017264 CA356556691	80	G>W		No	ClinGen gnomAD
CA2887226 rs769048224	83	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs746844362 CA2887228	86	D>Y		No	ClinGen ExAC gnomAD
rs1213729377 CA356556798	87	P>S		No	ClinGen gnomAD
rs1239342934 CA356556808	88	L>V		No	ClinGen TOPMed gnomAD
CA2887230 rs112861825	89	I>M		No	ClinGen ExAC gnomAD
CA356556868 rs1351169759	90	Y>*		No	ClinGen TOPMed
CA2887231 rs759478294	90	Y>C		No	ClinGen ExAC gnomAD
rs1441958399 CA356556881	91	S>F		No	ClinGen gnomAD
rs1159722384 CA356556897	92	S>N		No	ClinGen gnomAD
rs1159722384 CA356556900	92	S>T		No	ClinGen gnomAD
rs1307382926 CA356557000	96	C>Y		No	ClinGen TOPMed
rs972491666 CA95559814	99	Q>L		No	ClinGen Ensembl
rs140419305 CA2887235	100	R>C		No	ClinGen ESP ExAC gnomAD
CA2887237 rs749274148 COSM1055081	100	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2887236 rs749274148	100	R>P		No	ClinGen ExAC TOPMed gnomAD
CA356557115 rs1302408081	101	V>I		No	ClinGen TOPMed
CA356557185 rs1312506059	105	I>M		No	ClinGen gnomAD
rs1378760314 CA356557190	106	H>N		No	ClinGen gnomAD
CA2887238 rs547896373	106	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA356557197 rs1197538716	106	H>R		No	ClinGen gnomAD
rs568009782 CA2887239	107	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1348437367 CA356557219	108	S>R		No	ClinGen gnomAD
rs1220919444 CA356557270	111	P>S		No	ClinGen gnomAD
CA356557291 rs1443103757	112	S>T		No	ClinGen TOPMed gnomAD
CA356557300 rs1203219293	113	Y>H		No	ClinGen gnomAD
rs536951577 CA2887241	114	F>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	117	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	120	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356557420 rs1179652540	121	D>N		No	ClinGen TOPMed gnomAD
rs1469034713 CA356557438	122	A>T		No	ClinGen gnomAD
CA95559845 rs938676245	122	A>V		No	ClinGen TOPMed
rs1468844857 CA356557462	123	V>A		No	ClinGen gnomAD
CA356557452 COSM4135756 rs1425210163	123	V>I	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1577758820 CA356557476	124	H>R		No	ClinGen Ensembl
rs1334206972 CA356557471	124	H>Y		No	ClinGen TOPMed gnomAD
CA2887247 rs748411373	125	R>Q		No	ClinGen ExAC TOPMed gnomAD
VAR_054392 rs35859249 CA2887245	125	R>W	may be associated with risk of familial obesity [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA356557511 rs1295083681	126	Q>H		No	ClinGen gnomAD
rs781075510 CA2887249	127	S>G		No	ClinGen ExAC TOPMed gnomAD
CA356557526 rs1222953157	127	S>N		No	ClinGen TOPMed
CA95559878 rs371184104	134	A>D		No	ClinGen ESP gnomAD
rs769775102 CA2887251	135	D>H		No	ClinGen ExAC TOPMed gnomAD
rs769775102 CA356557604	135	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356557611 rs1364124127	136	D>N		No	ClinGen TOPMed
rs759798838 CA95559883 COSM79294	137	Q>*	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1399982452 CA356557631	138	T>I		No	ClinGen TOPMed
rs1399982452 CA356557630	138	T>R		No	ClinGen TOPMed
rs1281960215 CA356562890	140	V>G		No	ClinGen gnomAD
CA356562906 rs1342574548	141	P>L		No	ClinGen TOPMed
CA2887426 rs763173371	142	E>G		No	ClinGen ExAC gnomAD
rs1261927696 CA356562938	143	I>M		No	ClinGen gnomAD
CA2887427 rs764528428	143	I>V		No	ClinGen ExAC gnomAD
rs1337964559 CA356562957	145	S>G		No	ClinGen TOPMed
rs1204128467 CA356562964	145	S>I		No	ClinGen gnomAD
CA356562990 rs1245823974	147	I>F		No	ClinGen gnomAD
rs751970369 CA2887428	148	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1183957131 CA356563007	148	R>H		No	ClinGen gnomAD
rs1242354637 CA356563031	150	A>T		No	ClinGen TOPMed gnomAD
rs141193435 CA2887429	150	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs750573249 CA2887431	151	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2887430 rs781401106	151	G>R		No	ClinGen ExAC gnomAD
rs756389514 CA2887432	152	K>N		No	ClinGen ExAC gnomAD
CA2887433 rs369744022	153	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA95585461 rs199907184	154	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
CA2887437 rs374116224	155	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374116224 CA2887436	155	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs771725288 CA2887435	155	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2887439 rs776111627	160	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1240193721 CA356563103	160	H>Y		No	ClinGen gnomAD
rs759106581 COSM397796 CA2887440	162	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs759106581 CA356563120	162	P>R		No	ClinGen ExAC TOPMed gnomAD
CA356563127 rs1237698011	164	E>K		No	ClinGen gnomAD
rs1325222062 CA356563141	165	F>L		No	ClinGen gnomAD
rs774942736 CA2887442	165	F>S		No	ClinGen ExAC gnomAD
rs1203955043 CA356563147	166	D>E		No	ClinGen TOPMed gnomAD
CA95585524 rs1007608931	166	D>N		No	ClinGen Ensembl
rs1560619304 CA356563149	167	D>N		No	ClinGen Ensembl
CA356563162 rs1262237439	168	T>M		No	ClinGen TOPMed gnomAD
CA356563161 rs1262237439	168	T>R		No	ClinGen TOPMed gnomAD
CA2887443 rs762701912	170	S>Y		No	ClinGen ExAC gnomAD
CA2887444 rs531011819	171	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2887445 rs752005881	172	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1323086004 CA356563205	174	E>D		No	ClinGen TOPMed
CA356563212 rs1409900818	176	L>F		No	ClinGen gnomAD
CA356563230 rs1471055444	178	C>F		No	ClinGen gnomAD
rs1177447140 CA356563234	179	G>S		No	ClinGen gnomAD
CA2887448 rs750978970	180	R>H		No	ClinGen ExAC TOPMed gnomAD
CA356563243 rs750978970	180	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2887450 rs780311863 CA2887452	181	V>L		No	ClinGen ExAC gnomAD
CA2887451 COSM3714869 rs780311863	181	V>M	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2887453 rs777396585	184	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2887454 rs746886276	185	H>P		No	ClinGen ExAC gnomAD
CA2887455 rs770844143	186	K>R		No	ClinGen ExAC TOPMed
rs781053242 CA2887456	188	A>P		No	ClinGen ExAC TOPMed gnomAD
CA356563310 rs1282259663	192	L>M		No	ClinGen gnomAD
CA2887457 rs147361950	193	I>V		No	ClinGen ESP ExAC gnomAD
CA2887459 rs769257567	195	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1251719749 CA356563333	195	E>D		No	ClinGen TOPMed gnomAD
rs769257567 CA2887458	195	E>K		No	ClinGen ExAC TOPMed gnomAD
CA356563329 rs769257567	195	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA356563344 rs1406296048	197	I>F		No	ClinGen TOPMed gnomAD
CA356563345 rs1406296048	197	I>V		No	ClinGen TOPMed gnomAD
rs768397169 CA2887461	199	K>N		No	ClinGen ExAC gnomAD
rs1481466733 CA356563374	201	N>D		No	ClinGen gnomAD
rs377732925 CA2887462	201	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356563381 rs1431718474	202	H>D		No	ClinGen gnomAD
CA356563388 rs773814921	203	V>F		No	ClinGen ExAC gnomAD
rs1300457743 CA356563392	203	V>G		No	ClinGen TOPMed
CA2887465 rs773814921	203	V>I		No	ClinGen ExAC gnomAD
rs761282623 CA2887466	205	G>S		No	ClinGen ExAC TOPMed gnomAD
rs202141166 CA2887467	206	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753990550 CA356563415	207	R>P		No	ClinGen ExAC TOPMed gnomAD
rs753990550 CA2887469	207	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1042920574 CA95585704	208	G>E		No	ClinGen TOPMed gnomAD
CA95585705 rs957869673	209	S>A		No	ClinGen Ensembl
CA2887470 rs200336838	209	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356563425 rs200336838	209	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM389494 CA2887472 rs752931895	210	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA356563438 rs1226006709	211	S>N		No	ClinGen gnomAD
rs1490512988 CA356563445	212	P>L		No	ClinGen gnomAD
rs780996278 CA2887474	212	P>S		No	ClinGen ExAC
rs59426552 CA2887476	213	R>H		No	ClinGen ExAC gnomAD
rs59426552 CA95585734	213	R>P		No	ClinGen ExAC gnomAD
rs566780564 CA2887478	215	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA356563456 rs566780564	215	N>H		No	ClinGen 1000Genomes ExAC gnomAD
RCV000970836 CA2887479 rs201858985	215	N>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA95585785 rs979790719	216	P>L		No	ClinGen TOPMed gnomAD
CA356563471 rs747831454	217	P>L		No	ClinGen ExAC gnomAD
CA2887482 rs747831454	217	P>R		No	ClinGen ExAC gnomAD
rs773761726 CA2887485	218	H>P		No	ClinGen ExAC TOPMed gnomAD
CA95585821 rs959647110	218	H>Q		No	ClinGen TOPMed gnomAD
rs773761726 CA2887484	218	H>R		No	ClinGen ExAC TOPMed gnomAD
rs772512061 CA2887483	218	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA356563476 rs1347643278	219	A>T		No	ClinGen gnomAD
rs11935412 CA95585836	220	A>E		No	ClinGen Ensembl
CA356563482 rs1289101113	220	A>S		No	ClinGen gnomAD
CA2887488 rs372198887	221	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	224	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2887490 rs752876991	225	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1346166989 CA356563525	226	E>D		No	ClinGen TOPMed
CA356563537 rs10501	228	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	228	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs10501 CA2887491 VAR_028091	228	V>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	229	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2887492 rs537125973	229	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2887494 rs756003816	231	P>A		No	ClinGen ExAC TOPMed gnomAD
rs780100246 CA2887495	231	P>R		No	ClinGen ExAC gnomAD
rs563301626 CA356563554 CA2887496	232	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2887497 rs368357722	233	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA356563565 rs368357722	233	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1043369163 CA95585928	235	S>A		No	ClinGen Ensembl
rs778584750 CA2887498	235	S>Y		No	ClinGen ExAC
CA356563581 rs1178074892	236	F>L		No	ClinGen TOPMed
rs267600145 CA95585936	238	Q>*		No	ClinGen Ensembl
CA95585961 rs543593209	238	Q>H		No	ClinGen Ensembl
CA2887501 rs778277850	242	R>C		No	ClinGen ExAC TOPMed gnomAD
CA356563619 rs1338423068	242	R>P		No	ClinGen gnomAD
CA2887503 rs771210690	243	S>L		No	ClinGen ExAC gnomAD
rs769870040 CA95586010	244	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2887510 rs764370273	246	F>L		No	ClinGen ExAC TOPMed gnomAD
CA95586036 rs901968281	249	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356563680 rs1462054129	252	D>H		No	ClinGen TOPMed gnomAD
CA356563678 rs1462054129	252	D>N		No	ClinGen TOPMed gnomAD
CA2887511 rs760463935	255	L>I		No	ClinGen ExAC gnomAD
CA356563702 rs1324879491	255	L>R		No	ClinGen TOPMed
rs1177252678 CA356563717	258	S>G		No	ClinGen gnomAD
rs1560621762 CA356563729	259	G>V		No	ClinGen Ensembl
rs1178173150 CA356563735	260	F>C		No	ClinGen TOPMed gnomAD
rs998085755 CA95586122	261	F>S		No	ClinGen gnomAD
rs1578274512 CA356563745	262	S>R		No	ClinGen Ensembl
CA2887516 rs752321338	262	S>R		No	ClinGen ExAC TOPMed gnomAD
rs545441292 CA2887517	263	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs559688670 CA2887518	263	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs573146520 CA2887520	265	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs573146520 CA2887521	265	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1578274626 CA356563774	266	E>G		No	ClinGen Ensembl
rs746363297 CA356563784	267	S>R		No	ClinGen ExAC TOPMed gnomAD
CA356563786 rs1285433059	268	D>N		No	ClinGen gnomAD
rs775547173 CA2887524	269	I>M		No	ClinGen ExAC gnomAD
CA2887523 rs139404167	269	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2887525 rs150047198	270	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA95586208 rs1016943308	270	E>G		No	ClinGen Ensembl
CA95586220 rs1035397932	272	H>L		No	ClinGen Ensembl
CA2887529 CA356563818 rs774514436	272	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA2887530 rs766170990	274	I>F		No	ClinGen ExAC gnomAD
CA356563836 rs1173689497	275	S>N		No	ClinGen TOPMed
CA95586243 rs988973280	276	G>A		No	ClinGen TOPMed gnomAD
CA356563840 rs1429555304	276	G>R		No	ClinGen gnomAD
rs1474547377 COSM3365614 CA356563848	277	H>R	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs575401896 CA2887531	278	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356563852 rs575401896	278	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356563855 rs1560622286	278	N>S		No	ClinGen Ensembl
rs913023618 CA95586254	279	I>V		No	ClinGen Ensembl
CA95586261 rs372355633	280	V>M		No	ClinGen ESP TOPMed
CA356563895 rs1578274933	284	D>V		No	ClinGen Ensembl
rs1410413401 CA356563901	285	I>N		No	ClinGen TOPMed gnomAD
CA356563902 rs1410413401	285	I>T		No	ClinGen TOPMed gnomAD
rs765323116 CA2887533	286	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	287	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2887534 rs752693514	289	R>G		No	ClinGen ExAC TOPMed gnomAD
CA356563936 rs1305095473	290	T>I		No	ClinGen gnomAD
CA356563939 rs1331878774	291	M>V		No	ClinGen gnomAD
CA95586300 rs764691916	292	L>F		No	ClinGen TOPMed gnomAD
rs148752741 CA95586313	293	F>L		No	ClinGen ESP gnomAD
rs777459312 CA2887537	294	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1352859977 CA356563961	294	T>S		No	ClinGen TOPMed
rs1484834028 CA356563981	295	I>N		No	ClinGen TOPMed
rs145932557 CA2887551	296	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356563992 rs1446328470	297	Q>R		No	ClinGen gnomAD
CA356564009 rs1184159790	299	E>D		No	ClinGen gnomAD
CA356564002 rs1333717438	299	E>K		No	ClinGen TOPMed
rs1290983020 CA356564026	302	L>V		No	ClinGen TOPMed
rs373742470 CA356564030	303	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373742470 CA2887552	303	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	304	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763007518 CA2887554	306	D>N		No	ClinGen ExAC TOPMed gnomAD
rs763675459 CA356564057	307	T>A		No	ClinGen ExAC gnomAD
rs763675459 CA2887555	307	T>P		No	ClinGen ExAC gnomAD
CA356564066 rs1382198584	308	K>R		No	ClinGen TOPMed
rs760298745	310	I>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs547218387 CA2887557	310	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs760298745	310	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA95589194 rs931543893	310	I>T		No	ClinGen gnomAD
TCGA novel	311	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356564083 rs1382383113	311	A>T		No	ClinGen Ensembl
CA356564088 rs1340467939	311	A>V		No	ClinGen gnomAD
rs370157598 CA2887559	312	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs747603514 CA2887560	313	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA356564111 rs1207751391	315	N>D		No	ClinGen gnomAD
CA2887561 rs756407084	317	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs780415822 CA2887562	318	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1560628701 CA356564146	319	I>M		No	ClinGen Ensembl
rs749771206 CA2887563	323	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1305709257 CA356564197 COSM1495786	325	G>D	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
RCV000954907 CA2887591 rs112261209	327	R>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2887593 rs774091643	328	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA2887595 rs771457843	329	V>M		No	ClinGen ExAC gnomAD
rs1275255017 CA356564229	330	D>G		No	ClinGen gnomAD
rs772746219 CA2887596	331	H>Y		No	ClinGen ExAC gnomAD
CA356564247 rs1204494751	332	F>L		No	ClinGen gnomAD
TCGA novel	335	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA95590755 rs199776035	336	C>S		No	ClinGen 1000Genomes
CA2887599 rs766074895	337	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2887598 rs766074895	337	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200300060 CA2887597	337	R>W		No	ClinGen ExAC TOPMed gnomAD
rs765662695 CA2887601	341	G>R		No	ClinGen ExAC TOPMed gnomAD
CA356564306 rs1170948915	342	G>D		No	ClinGen TOPMed gnomAD
rs1226708368 CA356564303	342	G>S		No	ClinGen gnomAD
rs1170948915 CA356564308	342	G>V		No	ClinGen TOPMed gnomAD
CA356564309 rs1391313577	343	G>S		No	ClinGen gnomAD
CA2887603 rs758994457	344	G>S		No	ClinGen ExAC TOPMed gnomAD
rs145572665 CA2887604	348	V>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2887606 rs757539864	349	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs746096072 CA2887608	351	V>M		No	ClinGen ExAC TOPMed gnomAD
rs768297931 CA2887610	355	T>A		No	ClinGen ExAC gnomAD
rs1463269128 CA356564399	356	N>D		No	ClinGen TOPMed
CA2887611 rs778794566	356	N>K		No	ClinGen ExAC gnomAD
rs979157871 CA95590837	356	N>S		No	ClinGen TOPMed gnomAD
CA2887612 rs748001421	357	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2887634 rs777619503	360	V>A		No	ClinGen ExAC TOPMed gnomAD
CA356564441 rs1473346129	361	D>A		No	ClinGen gnomAD
rs187586429 CA2887636 CA2887637	364	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1455431354 CA356564472	365	M>T		No	ClinGen gnomAD
rs1380018939 CA356564503	369	Q>H		No	ClinGen TOPMed
CA356564521 rs776166552	372	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2887638 rs776166552	372	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2887640 rs769558458	373	V>M		No	ClinGen ExAC gnomAD
CA356564530 rs1446108464	374	A>S		No	ClinGen TOPMed
rs1230386505 CA356564536	375	A>E		No	ClinGen gnomAD
CA2887642 rs763320509	375	A>T		No	ClinGen ExAC TOPMed gnomAD
rs959915273 CA356564560	378	Q>H		No	ClinGen TOPMed gnomAD
CA2887643 rs764561041	379	T>S		No	ClinGen ExAC gnomAD
CA356564576 rs1226912210	381	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1055085 CA2887644 rs369942681	382	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	383	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2887646 rs61731607	384	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2887647 rs750580743	387	C>R		No	ClinGen ExAC TOPMed gnomAD
rs750580743 CA356564610	387	C>S		No	ClinGen ExAC TOPMed gnomAD
CA2887648 rs756274115	387	C>Y		No	ClinGen ExAC gnomAD
CA2887649 rs766561327	388	E>G		No	ClinGen ExAC gnomAD
rs61731610 CA2887651	389	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356564634 rs1372397673	390	C>*		No	ClinGen gnomAD
CA356564628 rs1207683732	390	C>R		No	ClinGen TOPMed
CA2887654 rs201580466	391	P>L		No	ClinGen ExAC gnomAD
CA95591729 rs201580466	391	P>R		No	ClinGen ExAC gnomAD
CA356564644 rs1440321254	393	Q>K		No	ClinGen gnomAD
CA2887657 rs745441707	394	S>I		No	ClinGen ExAC gnomAD
CA2887659 rs775144787	396	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA2887660 rs748929138	397	K>R		No	ClinGen ExAC TOPMed gnomAD
CA356564680 rs1345020774	398	L>F		No	ClinGen gnomAD
rs1270120222 CA356564712	402	I>M		No	ClinGen TOPMed gnomAD
CA95591810 rs965131432	402	I>T		No	ClinGen gnomAD
CA2887661 rs769095438	403	E>G		No	ClinGen ExAC gnomAD
rs768466492 CA356564747 CA2887680	405	M>I		No	ClinGen ExAC gnomAD
rs779404149 CA356564761	407	S>C		No	ClinGen ExAC gnomAD
CA2887681 rs779404149 COSM1429540	407	S>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1045194351 CA95595956	412	L>P		No	ClinGen Ensembl
rs146950338 CA2887683	413	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1188031160 CA356564867	418	L>P		No	ClinGen TOPMed
rs143458673 CA2887686	419	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs765501936 CA2887689	420	T>I		No	ClinGen ExAC gnomAD
CA356564881 rs1465195430	420	T>P		No	ClinGen gnomAD
CA2887690 rs74955942	423	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356564920 rs1425527453	424	Q>L		No	ClinGen gnomAD
CA2887691 COSM186987 rs761530736	427	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA95596034 rs985009409	428	T>I		No	ClinGen TOPMed gnomAD
rs372410857 CA2887693	429	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	431	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756058938 CA2887694	431	E>K		No	ClinGen ExAC gnomAD
rs1415439005 CA356565001	432	E>G		No	ClinGen TOPMed
CA356565011 rs1458079855	433	V>I		No	ClinGen gnomAD
rs983234269 CA95601712	435	K>Q		No	ClinGen TOPMed
CA2887712 rs772924043	437	R>K		No	ClinGen ExAC TOPMed gnomAD
CA2887714 rs760660471	438	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2887713 rs760660471	438	P>R		No	ClinGen ExAC TOPMed gnomAD
CA95601743 rs868846666	441	E>K		No	ClinGen Ensembl
CA356565549 rs1255323354	441	E>V		No	ClinGen gnomAD
rs973268237 RCV000998233 CA356565558	442	Q>H		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA2887716 rs754495972	443	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356565561 rs1254104554	443	R>Q		No	ClinGen TOPMed gnomAD
CA95601751 rs140673717	446	E>D		No	ClinGen 1000Genomes gnomAD
rs1483483444 CA356565581	446	E>Q		No	ClinGen gnomAD
COSM3775817 rs1578366923 CA356565593	447	L>F	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA356565597 rs1200105886	448	I>T		No	ClinGen TOPMed gnomAD
rs575255491 CA2887718	448	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2887720 rs758024695	449	I>L		No	ClinGen ExAC gnomAD
rs764383469 CA95601806	456	Y>D		No	ClinGen Ensembl
CA95601817 rs79973414	460	Q>K		No	ClinGen Ensembl
TCGA novel	462	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369352470 CA356565705	463	H>R		No	ClinGen gnomAD
rs111284604 CA2887724	464	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA95601820 rs111284604	464	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA95601827 rs1055516310	465	H>L		No	ClinGen TOPMed
CA356565718 rs1055516310	465	H>R		No	ClinGen TOPMed
CA2887726 rs200266191	466	I>S		No	ClinGen ExAC TOPMed gnomAD
CA2887727 rs200266191	466	I>T		No	ClinGen ExAC TOPMed gnomAD
rs949460873 CA95601872	467	G>R		No	ClinGen Ensembl
rs775598394 CA2887728	468	E>D		No	ClinGen ExAC gnomAD
TCGA novel	468	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2887729 rs749485229	471	Q>E		No	ClinGen ExAC gnomAD
rs540156102 CA2887758	473	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1245731138 CA356580678	473	S>P		No	ClinGen TOPMed
rs540156102 CA2887757	473	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	475	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769910445 CA2887760	475	M>L		No	ClinGen ExAC gnomAD
CA356580692 rs1163783712	475	M>T		No	ClinGen gnomAD
CA2887761 rs141092310	477	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356580711 rs1321023694	478	E>G		No	ClinGen gnomAD
CA356580728 rs1320332124	480	I>T		No	ClinGen TOPMed
rs762303982 CA2887762	481	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1428581573 CA356580752	484	L>I		No	ClinGen gnomAD
CA2887764 rs763692594	485	P>L		No	ClinGen ExAC gnomAD
rs763692594 CA2887763	485	P>R		No	ClinGen ExAC gnomAD
rs761578218 CA2887765	487	S>G		No	ClinGen ExAC gnomAD
CA2887766 rs372930518	487	S>N		No	ClinGen ESP ExAC gnomAD
rs750857832 CA2887767	488	A>S		No	ClinGen ExAC gnomAD
rs750857832 CA95577254	488	A>T		No	ClinGen ExAC gnomAD
rs1333044702 CA356580786	490	R>*		No	ClinGen TOPMed gnomAD
CA356580787 rs1295507592	490	R>Q		No	ClinGen TOPMed
CA356580795 rs1230586026	491	F>C		No	ClinGen TOPMed gnomAD
rs201258145 CA2887769	492	R>S		No	ClinGen ExAC TOPMed gnomAD
rs756605303 CA2887768	492	R>T		No	ClinGen ExAC gnomAD
rs868146972 CA95577264	492	R>W		No	ClinGen Ensembl
CA356580803 rs11549695	493	L>V		No	ClinGen gnomAD
CA356580811 rs1483285518	494	D>G		No	ClinGen gnomAD
CA356580809 rs1238648392	494	D>H		No	ClinGen gnomAD
CA356580808 rs1238648392	494	D>N		No	ClinGen gnomAD
CA356580812 rs1483285518	494	D>V		No	ClinGen gnomAD
CA356580819 rs754396986	495	M>R		No	ClinGen ExAC TOPMed gnomAD
CA2887770 rs754396986	495	M>T		No	ClinGen ExAC TOPMed gnomAD
rs754960712 CA2887771	499	K>E		No	ClinGen ExAC TOPMed gnomAD
CA95577323 rs944707693	500	A>T		No	ClinGen Ensembl
rs748285467 CA2887773	502	R>T		No	ClinGen ExAC gnomAD
TCGA novel	503	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1560680261 CA356580888	505	T>I		No	ClinGen Ensembl
rs1178157616 CA356580889	506	E>K		No	ClinGen gnomAD
rs147138668 CA95577358	508	L>S		No	ClinGen ESP TOPMed
CA356580920 rs1415467854	510	S>N		No	ClinGen gnomAD
rs1312390887 CA356580926	511	I>V		No	ClinGen gnomAD
rs542435660 CA95577360	512	L>F		No	ClinGen 1000Genomes gnomAD
rs772487620 CA2887774	514	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356580945 rs1411919609	514	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA356580963 rs1272582953	515	G>D		No	ClinGen TOPMed
rs1212265961 CA356580967	516	N>D		No	ClinGen TOPMed
rs1313025133 CA356580973	516	N>K		No	ClinGen TOPMed
rs1560682936 CA356580975	517	K>E		No	ClinGen Ensembl
TCGA novel	517	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356580980 rs778073846	517	K>N		No	ClinGen ExAC TOPMed gnomAD
rs747266033 CA2887794	519	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755926276 CA2887795	522	Q>K		No	ClinGen ExAC gnomAD
CA2887796 rs779950150	522	Q>R		No	ClinGen ExAC gnomAD
rs749152910 CA2887797	523	E>K		No	ClinGen ExAC gnomAD
CA2887798 rs374898959	525	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1191686114 CA356581035	526	I>T		No	ClinGen gnomAD
CA356581039 rs1304929102	527	S>G		No	ClinGen gnomAD
TCGA novel	527	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773723780 CA2887799	532	S>T		No	ClinGen ExAC gnomAD
rs367795610 CA2887800	535	S>C		No	ClinGen ESP ExAC TOPMed
CA2887802 rs772799168	542	S>G		No	ClinGen ExAC gnomAD
rs770673323 CA2887821	544	E>Q		No	ClinGen ExAC gnomAD
CA2887822 rs776159696	545	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	545	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356581180 rs1316966564	546	S>C		No	ClinGen gnomAD
rs1316966564 CA356581181	546	S>F		No	ClinGen gnomAD
rs759877468 CA2887823	547	V>A		No	ClinGen ExAC TOPMed gnomAD
rs200919268 CA95580254	548	C>R		No	ClinGen 1000Genomes
TCGA novel	551	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	551	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2887825 rs776092360	552	A>D		No	ClinGen ExAC TOPMed gnomAD
CA356581221 rs776092360	552	A>G		No	ClinGen ExAC TOPMed gnomAD
CA356581222 rs776092360	552	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2887827 rs763605503	554	P>R		No	ClinGen ExAC gnomAD
CA356581239 rs1578426914	555	I>T		No	ClinGen Ensembl
rs1204484722 CA356581247	556	S>F		No	ClinGen gnomAD
CA2887831 rs767724421	557	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2887832 rs148173697	558	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1258449529 CA356581263	559	S>A		No	ClinGen TOPMed gnomAD
rs1258449529 CA356581264	559	S>P		No	ClinGen TOPMed gnomAD
TCGA novel	562	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2887835 rs778618441	564	G>C		No	ClinGen ExAC TOPMed gnomAD
CA2887834 rs778618441	564	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1430042556 CA356581304	565	S>C		No	ClinGen TOPMed
rs1162398045 CA356581300	565	S>T		No	ClinGen TOPMed
rs370317412 CA95580349	566	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370317412 CA2887837	566	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1192782608 CA356581322	568	D>G		No	ClinGen TOPMed
CA2887838 rs200329815	569	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2887839 rs150670938	570	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
CA356581331 rs1578427164	570	S>P		No	ClinGen Ensembl
rs745528856 CA356581344	572	D>H		No	ClinGen ExAC gnomAD
rs745528856 CA2887841	572	D>Y		No	ClinGen ExAC gnomAD
CA2887842 rs770172853	573	S>L		No	ClinGen ExAC gnomAD
rs1578427256 CA356581370	575	S>R		No	ClinGen Ensembl
CA356581373 rs1265266058	576	H>Y		No	ClinGen TOPMed
CA356581381 rs1289912702	577	L>F		No	ClinGen gnomAD
CA2887846 rs775014920	578	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769346943 CA356581386	578	P>S		No	ClinGen ExAC TOPMed gnomAD
rs769346943 CA2887845	578	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	579	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767528858 CA2887848	580	E>D		No	ClinGen ExAC gnomAD
CA2887847 rs761889007	580	E>K		No	ClinGen ExAC TOPMed gnomAD
rs750632058 CA2887849	582	A>T		No	ClinGen ExAC gnomAD
CA356581418 rs760844116	583	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2887850 rs760844116	583	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2887853 COSM3780278 rs61752489	585	S>L	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs777619437 CA2887855	587	Q>P		No	ClinGen ExAC gnomAD
rs1434426087 CA356581450	589	A>T		No	ClinGen gnomAD
rs751528727 CA2887856	591	R>G		No	ClinGen ExAC TOPMed gnomAD
rs921582431 CA95580551	591	R>K		No	ClinGen TOPMed
CA356581468 rs756742486	591	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2887858 rs370134989	593	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs577001415 CA2887860	593	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2887859 rs577001415	593	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA356581478 rs1396848756	594	A>T		No	ClinGen gnomAD
rs1390572576 CA356581483	594	A>V		No	ClinGen gnomAD
CA356581484 rs1304660592	595	N>D		No	ClinGen gnomAD
rs749595142 CA2887862	596	T>I		No	ClinGen ExAC gnomAD
CA2887863 rs769152674	598	S>N		No	ClinGen ExAC TOPMed gnomAD
CA356581505 rs769152674	598	S>T		No	ClinGen ExAC TOPMed gnomAD
CA95580581 rs1036215727	599	H>P		No	ClinGen Ensembl
rs774945592 CA2887864	602	I>V		No	ClinGen ExAC gnomAD
CA95580591 rs1048426706	603	E>G		No	ClinGen TOPMed
CA2887867 rs545868613	603	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs560611944 CA95580603	604	C>R		No	ClinGen gnomAD
CA2887870 rs754075345	605	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2887871 rs762688852	606	E>K		No	ClinGen ExAC gnomAD
CA2887872 rs766339856	607	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2887873 rs751482503	608	P>S		No	ClinGen ExAC gnomAD
rs757190913 CA2887874	609	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA2887875 rs767039618	610	P>S		No	ClinGen ExAC gnomAD
TCGA novel CA356581589 rs1578428049	611	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs749965802 CA2887876	611	A>P		No	ClinGen ExAC gnomAD
rs779792096 CA2887878	612	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2887879 rs779792096	612	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755686916 CA2887877	612	R>W		No	ClinGen ExAC gnomAD
rs1325120230 CA356581598	613	G>E		No	ClinGen gnomAD
rs779472976 CA2887882	615	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779472976 CA2887881	615	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs755349695 CA2887880	615	P>S		No	ClinGen ExAC TOPMed gnomAD
CA356581617 rs1249917869	617	V>G		No	ClinGen gnomAD
CA2887886 rs78097286	617	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3661076 rs1444527229 CA356581624	618	S>L	liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA2887888 rs145177739	619	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2887890 rs774071076	620	R>K		No	ClinGen ExAC gnomAD
CA356581648 rs1187714461	622	L>F		No	ClinGen gnomAD
rs202028456 CA95580774	622	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA95580777 rs368638065	623	M>T		No	ClinGen ESP TOPMed gnomAD
rs1160916705 CA356581661	624	R>K		No	ClinGen TOPMed
rs761804798 CA2887891	624	R>S		No	ClinGen ExAC gnomAD
CA356581680 rs1167890498	626	H>Q		No	ClinGen gnomAD
rs755633533 CA2887895	627	S>L		No	ClinGen ExAC TOPMed
rs750385451 CA2887893	627	S>P		No	ClinGen ExAC gnomAD
TCGA novel	628	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753522767 CA2887898 CA2887897	628	V>L		No	ClinGen ExAC gnomAD
rs1560691651 CA356581698	630	T>A		No	ClinGen Ensembl
rs752552732 CA2887902	631	E>G		No	ClinGen ExAC TOPMed gnomAD
rs748397741 CA2887901	631	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2887903 rs200637650	632	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs200637650 CA356581713	632	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337272881 CA356581725	634	H>R		No	ClinGen gnomAD
rs1234254986 CA356581737	636	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2887905 rs770966885	636	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771933328 CA2887951	638	D>V		No	ClinGen ExAC TOPMed gnomAD
rs200893802 CA2887952	641	S>A		No	ClinGen ExAC gnomAD
CA2887953 rs375364360	641	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2887954 rs375364360	641	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2887955 rs762508564	643	A>E		No	ClinGen ExAC gnomAD
rs763735443 CA2887956	645	H>R		No	ClinGen ExAC TOPMed gnomAD
rs148919679 CA2887958	646	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA95584153 rs977884657	647	G>D		No	ClinGen TOPMed
CA95584180 rs926062934	650	G>D		No	ClinGen TOPMed gnomAD
CA2887961 rs750896482	651	G>R		No	ClinGen ExAC gnomAD
rs200586797 CA95584237	652	T>N		No	ClinGen 1000Genomes TOPMed
rs1289999125 CA356583541	653	P>S		No	ClinGen TOPMed
rs753893160 CA2887965	654	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2887967 rs779232410	656	T>I		No	ClinGen ExAC gnomAD
CA2887968 rs140253816	657	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2887969 rs140253816	657	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173777603 CA356583610	658	R>S		No	ClinGen TOPMed gnomAD
CA2887970 rs781183000	660	S>A		No	ClinGen ExAC gnomAD
TCGA novel	660	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2887972 rs769835580	667	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775294678 CA2887973	668	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs201600071 CA95584327	671	T>I		No	ClinGen Ensembl
CA356583805 rs768175721	672	P>L		No	ClinGen ExAC TOPMed gnomAD
rs768175721 CA356583803	672	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA2887975 rs768175721	672	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2887974 rs534201497	672	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1236559280 CA356583809	673	Q>E		No	ClinGen gnomAD
rs773949558 CA2887976	675	A>G		No	ClinGen ExAC TOPMed gnomAD
rs773620475 CA356583867	676	C>F		No	ClinGen ExAC TOPMed gnomAD
rs773620475 CA2887979	676	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA2887980 rs760954873	677	D>H		No	ClinGen ExAC TOPMed gnomAD
rs760954873 CA2887981	677	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	678	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2887983 rs146980638	679	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs866766773 CA95584355	679	S>F		No	ClinGen Ensembl
CA2887982 rs146980638	679	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA356583955 rs1243849381	682	Y>C		No	ClinGen TOPMed
CA356583974 rs1470241079	683	E>G		No	ClinGen gnomAD
CA95609582 rs1016975778	685	Y>D		No	ClinGen gnomAD
VAR_028092 rs7677030 CA95609585	685	Y>S		No	ClinGen UniProt Ensembl dbSNP
CA356587677 rs1361267683	686	S>A		No	ClinGen TOPMed gnomAD
rs1291599060 CA356587684	686	S>L		No	ClinGen TOPMed
CA356587675 rs1361267683	686	S>P		No	ClinGen TOPMed gnomAD
rs1333517592 CA356587698	688	L>P		No	ClinGen TOPMed
rs1172845245 CA356587712	690	E>D		No	ClinGen gnomAD
CA356587707 rs1578647632	690	E>Q		No	ClinGen Ensembl
CA2888003 rs763129779	692	P>L		No	ClinGen ExAC gnomAD
CA2888006 rs751750868	693	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2888005 rs751750868	693	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA2888004 rs539588725	693	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2888007 rs779750341	694	R>*		No	ClinGen ExAC gnomAD
COSM1055088 rs753789018 CA2888008	694	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs754962173 CA2888009	695	S>Y		No	ClinGen ExAC TOPMed
rs1352313120 CA356587740	696	P>R		No	ClinGen gnomAD
rs1307012662 CA356587738	696	P>S		No	ClinGen gnomAD
rs1237376497 CA356587756	698	E>D		No	ClinGen gnomAD
rs747602498 CA2888012	699	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2888011 rs747602498	699	P>Q		No	ClinGen ExAC gnomAD
CA2888010 rs778386844	699	P>S		No	ClinGen ExAC TOPMed gnomAD
CA356587764 rs1209117233	700	V>A		No	ClinGen gnomAD
rs777444696 CA2888013	701	C>G		No	ClinGen ExAC gnomAD
CA2888014 rs138058343	701	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2888017 rs760117052	706	F>S		No	ClinGen ExAC TOPMed gnomAD
CA356587808 rs1327049514	707	G>R		No	ClinGen TOPMed gnomAD
CA356587809 rs1327049514	707	G>S		No	ClinGen TOPMed gnomAD
rs1415287084 CA356587823	709	P>R		No	ClinGen gnomAD
rs776153777 CA2888019	713	K>*		No	ClinGen ExAC gnomAD
CA2888020 rs763077102	714	K>E		No	ClinGen ExAC gnomAD
TCGA novel	715	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1310035 rs751773027 CA2888022	718	R>C	urinary_tract Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs202172601 CA2888023	718	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202172601 CA2888025	718	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202172601 CA2888024	718	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376244849 CA95609685	721	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs754769002 CA2888026	721	R>Q		No	ClinGen ExAC gnomAD
rs1276144405 CA356587906	722	E>D		No	ClinGen gnomAD
CA356587917 rs1474297350	724	W>*		No	ClinGen TOPMed
rs1309036886 CA356587913	724	W>R		No	ClinGen TOPMed gnomAD
CA356587924 rs1205004415	725	Q>P		No	ClinGen TOPMed gnomAD
rs201447112 CA2888028	728	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356587951 rs1456402025	729	L>F		No	ClinGen gnomAD
CA356587949 rs1456402025	729	L>I		No	ClinGen gnomAD
CA95609714 rs780105926	730	Q>L		No	ClinGen Ensembl
rs1176810497 CA356587962	731	Q>K		No	ClinGen gnomAD
rs566923605 CA2888030	732	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2888029 rs566923605	732	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356587982 rs1207356676	734	L>P		No	ClinGen TOPMed gnomAD
CA356587987 rs1172200769	735	L>F		No	ClinGen gnomAD
rs1005953831 CA95609730	736	R>I		No	ClinGen TOPMed
CA356587994 rs1005953831	736	R>T		No	ClinGen TOPMed
rs770556383 CA2888032	737	M>T		No	ClinGen ExAC gnomAD
rs1238243272 CA356588036	741	N>K		No	ClinGen Ensembl
CA356588039 COSM733539 rs1411980365	742	Q>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs868822610 CA95609736	745	Q>*		No	ClinGen Ensembl
rs763657871 CA2888047	747	S>A		No	ClinGen ExAC gnomAD
rs6850741 CA95614415	752	L>M		No	ClinGen Ensembl
rs780659681 CA2888050	755	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745544107 CA2888051	755	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2888052 rs568485692	756	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2888053 rs537533221	758	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs748063826 CA2888055	759	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	761	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3723794 CA356588177 rs1365237480	761	E>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA356588204 rs1560780145	764	T>I		No	ClinGen Ensembl
CA2888058 rs748115749	765	P>S		No	ClinGen ExAC gnomAD
CA2888057 rs748115749	765	P>T		No	ClinGen ExAC gnomAD
TCGA novel	769	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441978709 CA356588234	769	E>A		No	ClinGen TOPMed gnomAD
rs1396958549 CA356588233	769	E>K		No	ClinGen TOPMed gnomAD
CA356588250 rs1217610310	771	T>I		No	ClinGen TOPMed gnomAD
CA356588249 rs1217610310	771	T>S		No	ClinGen TOPMed gnomAD
CA356588252 rs1262828387	772	T>A		No	ClinGen gnomAD
rs1477030473 CA356588256	772	T>I		No	ClinGen gnomAD
rs760939996 CA2888060	773	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2888062 rs775330829	774	W>*		No	ClinGen ExAC gnomAD
CA2888063 rs762812889	775	E>D		No	ClinGen ExAC TOPMed gnomAD
CA356588287 rs1482393590	777	M>L		No	ClinGen TOPMed
CA95614572 rs894198325	780	T>I		No	ClinGen TOPMed
CA2888064 rs138362592	781	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2888065 rs751537266	783	R>K		No	ClinGen ExAC gnomAD
CA356588454 rs1353143547	789	D>E		No	ClinGen TOPMed
CA356588469 rs1416342317	790	M>I		No	ClinGen gnomAD
CA356588467 rs1358278133	790	M>R		No	ClinGen gnomAD
CA95614599 COSM370870 rs980711705	790	M>V	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	793	M>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334607587 CA356588510	793	M>L		No	ClinGen gnomAD
rs770934471 CA95614609	794	H>R		No	ClinGen gnomAD
rs1248083757 CA356588534	794	H>Y		No	ClinGen TOPMed
CA2888066 rs756680194	795	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2888068 rs750076746	796	A>V		No	ClinGen ExAC gnomAD
CA356588575 rs1333242295	797	V>L		No	ClinGen TOPMed
CA2888091 rs753135243	801	V>A		No	ClinGen ExAC gnomAD
rs758971590 CA2888092	802	P>A		No	ClinGen ExAC gnomAD
CA2888093 rs199992726	803	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144365137 CA2888094	803	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs144365137 CA2888095	803	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781351109 CA2888097	806	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2888098 rs746140219	806	R>Q		No	ClinGen ExAC gnomAD
rs1330791434 CA356588392	807	G>A		No	ClinGen gnomAD
CA356588391 rs1330791434	807	G>V		No	ClinGen gnomAD
CA2888101 rs761648142	815	E>V		No	ClinGen ExAC gnomAD
CA2888102 rs772063850	819	L>P		No	ClinGen ExAC gnomAD
rs773293686 CA2888103	822	Q>*		No	ClinGen ExAC gnomAD
CA2888105 rs142187678	824	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2888104 rs142187678	824	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1209968736 CA356588611	825	S>G		No	ClinGen gnomAD
CA2888107 rs202235244	825	S>N		No	ClinGen 1000Genomes ExAC
CA2888108 rs765519417	826	K>E		No	ClinGen ExAC TOPMed
rs1266173849 CA356588627	826	K>R		No	ClinGen gnomAD
rs770253775 CA95575275	830	K>M		No	ClinGen Ensembl
rs752093851 CA2888112	836	E>*		No	ClinGen ExAC gnomAD
CA356588718 rs1351585212	838	L>*		No	ClinGen gnomAD
rs756854567 CA95575294	839	K>Q		No	ClinGen Ensembl
rs1395547141 CA356588733	840	Q>R		No	ClinGen TOPMed
CA356588752 rs1294218277	843	S>F		No	ClinGen gnomAD
CA356588766 rs1385324327	845	Q>L		No	ClinGen gnomAD
CA2888114 rs781379506	847	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748817145 CA2888117	850	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2888116 rs756424689	850	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM1055091 CA356588834 rs776447276	854	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1419329911 CA356588835	854	R>Q		No	ClinGen gnomAD
rs769221401 CA2888144	855	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1224659872 CA356588850	856	F>L		No	ClinGen TOPMed
rs1449305707 CA356588844	856	F>L		No	ClinGen TOPMed gnomAD
rs1302749346 CA356588852	857	P>A		No	ClinGen gnomAD
rs1578790255 CA356588876	860	P>L		No	ClinGen Ensembl
rs1448290289 CA356588900	864	A>P		No	ClinGen gnomAD
TCGA novel	864	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762641795 CA2888146	865	Q>H		No	ClinGen ExAC gnomAD
CA2888147 rs764427481	867	G>E		No	ClinGen ExAC gnomAD
rs774763747 CA2888148	870	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA95583118 rs950289388	871	L>P		No	ClinGen Ensembl
COSM164802 CA356588951 rs1312522146	872	S>L	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1254119499 CA356588952	873	L>I		No	ClinGen gnomAD
CA95583128 rs1045900081	874	Y>*		No	ClinGen Ensembl
CA95583124 rs999366179	874	Y>C		No	ClinGen Ensembl
CA356588965 rs1459057036	875	N>D		No	ClinGen gnomAD
rs756175400 CA2888152	875	N>S		No	ClinGen ExAC gnomAD
TCGA novel	877	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	880	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356589015 rs1439232074	882	L>F		No	ClinGen gnomAD
CA2888155 rs755321000	883	L>P		No	ClinGen ExAC TOPMed gnomAD
rs372955287 CA2888154	883	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA356589035 rs1250442545	885	Q>R		No	ClinGen TOPMed gnomAD
CA356589051 rs1175826625	887	V>A		No	ClinGen gnomAD
CA356589067 rs1467647547	890	C>R		No	ClinGen gnomAD
CA2888159 rs781146620	891	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs745835231 CA2888160	896	V>I		No	ClinGen ExAC gnomAD
rs1276226088 CA356589119	897	A>V		No	ClinGen gnomAD
CA356589124 rs1367890987	898	G>A		No	ClinGen gnomAD
rs748934787 CA95583200	899	I>S		No	ClinGen ExAC TOPMed gnomAD
rs748934787 CA2888163	899	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2888162 rs779596786	899	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	900	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2888164 rs556659281	900	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1257422898 CA356589140	901	L>P		No	ClinGen gnomAD
rs865949282 CA95583208	902	L>F		No	ClinGen Ensembl
CA2888166 rs762184796	903	H>L		No	ClinGen ExAC gnomAD
TCGA novel	904	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2888167 rs139639988	904	M>V		No	ClinGen ESP ExAC gnomAD
CA95583244 rs896464468	905	S>G		No	ClinGen TOPMed
rs1578791062 CA356589168	905	S>R		No	ClinGen Ensembl
rs1190909228 CA356589189	908	E>G		No	ClinGen gnomAD
rs1427656588 CA356589193	909	A>T		No	ClinGen TOPMed gnomAD
CA356589216 rs1560256524 COSM1328538	912	M>V	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1175051795 CA356589225	913	L>F		No	ClinGen TOPMed
rs1400274752 CA356589245 CA356589244	915	F>L		No	ClinGen gnomAD
CA2888170 rs761147158	916	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1181320648 CA356589255	917	M>I		No	ClinGen gnomAD
rs962729076 COSM1429545 CA95583278	917	M>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1435320708 CA356589278	920	M>R		No	ClinGen gnomAD
CA2888171 rs766479539	920	M>V		No	ClinGen ExAC TOPMed gnomAD
CA356589285 rs1300967999	921	G>E		No	ClinGen TOPMed gnomAD
CA2888173 rs753906489	923	R>G		No	ClinGen ExAC TOPMed gnomAD
rs765507688 CA2888174	923	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753906489 CA2888172	923	R>W		No	ClinGen ExAC TOPMed gnomAD
CA356589301 rs752999888 CA2888175	924	K>N		No	ClinGen ExAC gnomAD
rs780900876 CA2888178	927	R>G		No	ClinGen ExAC TOPMed gnomAD
rs756071182 CA2888179	927	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs780900876 CA2888177	927	R>W		No	ClinGen ExAC TOPMed gnomAD
CA356589329 rs1221094031	929	D>G		No	ClinGen gnomAD
CA356589328 rs1452344690	929	D>Y		No	ClinGen TOPMed gnomAD
CA95583341 rs1008517393	930	M>I		No	ClinGen TOPMed gnomAD
CA356589335 rs747589201	930	M>L		No	ClinGen gnomAD
CA95583334 rs890860783	930	M>T		No	ClinGen Ensembl
rs747589201 CA95583316	930	M>V		No	ClinGen gnomAD
CA95583345 rs1015394098	931	I>T		No	ClinGen Ensembl
rs1254226156 CA356589366	934	Q>H		No	ClinGen TOPMed gnomAD
CA356589391 rs1339826083	936	Q>R		No	ClinGen TOPMed gnomAD
rs1451952868 CA356589418	939	Q>H		No	ClinGen gnomAD
CA2888206 rs777246970	940	L>I		No	ClinGen ExAC gnomAD
CA2888207 rs746427990	941	S>L		No	ClinGen ExAC gnomAD
CA356589437 rs1578801023	943	L>V		No	ClinGen Ensembl
rs1434687822 CA356589448	944	L>P		No	ClinGen gnomAD
CA356589452 rs1260424785	945	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1035223444 CA95584940	947	Y>C		No	ClinGen Ensembl
CA356589475 rs1560260010	948	H>Y		No	ClinGen Ensembl
rs1578801105 CA356589493	950	D>A		No	ClinGen Ensembl
rs956436973 CA95584949	953	N>S		No	ClinGen gnomAD
rs1578801162 CA356589520	954	H>P		No	ClinGen Ensembl
CA356589528 rs1578801180	955	L>R		No	ClinGen Ensembl
CA356589543 rs1363396910	957	E>D		No	ClinGen gnomAD
CA95584959 rs967395613	957	E>K		No	ClinGen TOPMed
rs781094713 CA95584969 CA356589550	958	H>Q		No	ClinGen TOPMed gnomAD
CA2888211 rs528902342	958	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369138939 CA95584972	959	E>D		No	ClinGen Ensembl
rs987983160 CA95584971	959	E>K		No	ClinGen Ensembl
CA356589557 rs1181142505	960	I>L		No	ClinGen TOPMed gnomAD
CA2888214 rs548753227	960	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1258263462 CA356589566	961	G>A		No	ClinGen gnomAD
rs753749789 CA2888215	961	G>S	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA95585008 rs926066723	962	P>S		No	ClinGen TOPMed gnomAD
CA356589591 rs1172973095	965	Y>C		No	ClinGen gnomAD
CA2888218 rs752093106	966	A>D		No	ClinGen ExAC TOPMed gnomAD
CA2888217 rs765228485	966	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356589602 rs1560260287	967	A>D		No	ClinGen Ensembl
rs1280830886 CA356589607	968	P>R		No	ClinGen gnomAD
rs200460442 CA2888220	968	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1578801621 CA356589615	969	W>*		No	ClinGen Ensembl
CA95585052 rs78153714	969	W>R		No	ClinGen Ensembl
CA2888221 rs746714889	971	L>V		No	ClinGen ExAC gnomAD
CA2888223 rs537579344	973	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2888222 rs201262200	973	M>V		No	ClinGen ExAC TOPMed gnomAD
rs558306807 CA2888224	974	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA356589659 rs1202318945	976	S>A		No	ClinGen TOPMed gnomAD
rs144280377 CA95585070	977	Q>H		No	ClinGen ESP
CA2888226 rs776077175	979	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2888230 rs762068142	981	G>R		No	ClinGen ExAC gnomAD
rs1245452435 CA356589696	982	F>Y		No	ClinGen TOPMed
CA2888231 rs150619808	983	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs150619808 CA2888232	983	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA356589710 rs1434546048	984	A>V		No	ClinGen gnomAD
rs1238799704 CA356589748	988	D>G		No	ClinGen Ensembl
CA2888233 rs374399526	988	D>H		No	ClinGen ESP ExAC gnomAD
rs1025967664 CA95590820	989	M>L		No	ClinGen TOPMed
rs763008871 CA2888256	989	M>T		No	ClinGen ExAC TOPMed gnomAD
CA2888257 rs763511104	991	F>C		No	ClinGen ExAC TOPMed gnomAD
CA2888258 rs751044002	993	Q>*		No	ClinGen ExAC gnomAD
CA2888259 rs761418318	993	Q>H		No	ClinGen ExAC gnomAD
CA356589782 rs1578836033	993	Q>R		No	ClinGen Ensembl
CA356589789 rs1403448944	994	G>A		No	ClinGen TOPMed gnomAD
rs1341614633 CA356589807	997	V>D		No	ClinGen gnomAD
CA2888260 rs767227048	997	V>I		No	ClinGen ExAC gnomAD
rs756402765 CA356589810	998	I>L		No	ClinGen ExAC TOPMed gnomAD
CA356589815 rs1560269683	998	I>M		No	ClinGen Ensembl
rs756402765 CA2888262	998	I>V		No	ClinGen ExAC TOPMed gnomAD
CA356589818 rs1578836236	999	F>V		No	ClinGen Ensembl
rs149746733 CA2888263	1000	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2888264 rs759153196	1002	A>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1002	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2888265 rs759153196	1002	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1224401440 CA356589844	1003	L>S		No	ClinGen TOPMed
CA356589848 rs1290525848	1004	S>R		No	ClinGen TOPMed gnomAD
CA2888266 rs779409200	1005	L>R		No	ClinGen ExAC
rs748178696 CA2888267	1006	L>W		No	ClinGen ExAC
rs772170836 CA2888268	1007	G>E		No	ClinGen ExAC gnomAD
CA2888269 rs777940925	1009	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2888270 rs191311030	1012	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2888271 rs769466902	1013	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1014	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA95590911 rs769406595	1015	Q>*		No	ClinGen Ensembl
rs749043918 CA2888273	1016	H>R		No	ClinGen ExAC gnomAD
TCGA novel	1018	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356589950 rs1425609720	1019	L>P		No	ClinGen gnomAD
rs1384765881 CA356589970	1022	I>T		No	ClinGen gnomAD
rs1381214105 CA356589967	1022	I>V		No	ClinGen TOPMed
rs1422990462 CA356589977	1023	V>A		No	ClinGen gnomAD
CA2888275 rs774448801	1024	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1296927578 CA356589990	1025	F>S		No	ClinGen TOPMed
CA95590934 rs764754624	1027	K>R		No	ClinGen TOPMed gnomAD
CA356590008 rs1346149452	1028	S>R		No	ClinGen TOPMed gnomAD
CA2888276 rs145666066	1029	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA356590028 rs1396070018	1031	P>S		No	ClinGen gnomAD
CA356590066 rs1380051545	1037	Q>E		No	ClinGen TOPMed gnomAD
CA356590065 rs1380051545	1037	Q>K		No	ClinGen TOPMed gnomAD
CA95591019 rs923119310	1037	Q>R		No	ClinGen TOPMed gnomAD
rs1215737989 CA356590103	1041	T>I		No	ClinGen TOPMed gnomAD
rs766646811 CA2888280	1043	N>S		No	ClinGen ExAC TOPMed gnomAD
CA356590143 rs1409062336	1045	V>A		No	ClinGen gnomAD
CA356590138 rs1233623688	1045	V>I		No	ClinGen gnomAD
rs1427688705 CA356590152	1047	E>K		No	ClinGen gnomAD
rs1176297519 CA356590165	1048	M>I		No	ClinGen gnomAD
rs753193526 CA356590161	1048	M>L		No	ClinGen ExAC gnomAD
rs753193526 CA2888301	1048	M>V		No	ClinGen ExAC gnomAD
rs758973767 CA2888302	1049	D>N		No	ClinGen ExAC gnomAD
CA356590180 rs185429602	1050	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353501227 CA356590177	1050	I>N		No	ClinGen gnomAD
CA2888303 rs764592822	1050	I>V		No	ClinGen ExAC TOPMed gnomAD
CA356590181 rs757303654	1051	A>S		No	ClinGen ExAC TOPMed gnomAD
rs757303654 CA2888305	1051	A>T		No	ClinGen ExAC TOPMed gnomAD
CA356590185 rs1345877328	1051	A>V		No	ClinGen gnomAD
rs781432610 CA2888306	1053	Q>*		No	ClinGen ExAC gnomAD
rs1448553112 CA356590197	1053	Q>R		No	ClinGen TOPMed
CA356590205 rs1281244606	1054	L>*		No	ClinGen gnomAD
CA2888307 rs548079533	1055	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548079533 CA2888308	1055	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778909691 CA2888309	1055	Q>H		No	ClinGen ExAC gnomAD
rs1204235035 CA356590215	1056	A>T		No	ClinGen TOPMed
CA2888310 rs748093660	1058	E>D		No	ClinGen ExAC gnomAD
rs777583181 CA2888312	1063	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1067	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1068	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2888317 rs776326406	1069	I>F		No	ClinGen ExAC gnomAD
CA356590388 rs759170557	1069	I>M		No	ClinGen ExAC TOPMed gnomAD
CA95596885 rs928759208	1069	I>S		No	ClinGen TOPMed
CA356590385 rs928759208	1069	I>T		No	ClinGen TOPMed
CA356590380 rs776326406	1069	I>V		No	ClinGen ExAC gnomAD
CA2888321 rs141434035	1070	D>G		No	ClinGen ESP ExAC
rs770144771 CA2888320	1070	D>N		No	ClinGen ExAC TOPMed gnomAD
rs770144771 CA2888319	1070	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs764538051 CA2888322	1071	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2888324 rs770272090	1073	P>S		No	ClinGen ExAC gnomAD
CA95596943 rs900223687	1076	D>N		No	ClinGen Ensembl
rs767538839 CA2888325	1079	R>T		No	ClinGen ExAC TOPMed gnomAD
CA356590494 rs1381903265	1080	M>T		No	ClinGen TOPMed
rs1464316968 CA356590499	1081	D>N		No	ClinGen Ensembl
rs780426415 CA2888328	1085	K>N		No	ClinGen ExAC gnomAD
rs777736770 CA2888331	1087	N>K		No	ClinGen ExAC TOPMed gnomAD
rs758301909 CA2888330	1087	N>S		No	ClinGen ExAC gnomAD
CA356590608 rs1222128281	1088	S>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780637493 CA2888334	1091	R>C		No	ClinGen ExAC gnomAD
RCV000735111 rs376683121 CA2888335	1091	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA356590658 rs376683121	1091	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2888337 rs775148411	1092	K>E		No	ClinGen ExAC gnomAD
CA95597013 rs776078069	1092	K>R		No	ClinGen Ensembl
CA356590708 rs1223201381	1095	L>F		No	ClinGen gnomAD
CA95597023 rs1014846953	1096	D>N		No	ClinGen gnomAD
CA95597024 rs867791177	1098	L>F		No	ClinGen Ensembl
CA95597029 rs941735780	1100	Q>H		No	ClinGen TOPMed gnomAD
rs1161349557 CA356590778	1100	Q>R		No	ClinGen gnomAD
rs781206676 CA2888354	1103	V>A		No	ClinGen ExAC gnomAD
CA356591862 rs1382612229	1103	V>M		No	ClinGen gnomAD
rs147610055 CA2888355	1104	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1406878902 CA356591885	1105	N>D		No	ClinGen gnomAD
rs199769631 CA95600452	1106	G>D		No	ClinGen 1000Genomes
rs1336398652 CA356591924	1108	I>F		No	ClinGen TOPMed
rs755654819 CA2888356	1108	I>T		No	ClinGen ExAC gnomAD
rs779646546 CA2888357	1111	L>P		No	ClinGen ExAC gnomAD
CA2888358 rs748986094	1113	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1016800708 CA95600508	1115	I>V		No	ClinGen TOPMed
CA551139600 rs1240117512	1117	K>N*		No	ClinGen gnomAD
rs1349059793 CA356592073	1118	L>F		No	ClinGen gnomAD
CA356592111 rs1481176197	1121	S>G		No	ClinGen gnomAD
rs769047596 CA2888359	1121	S>R		No	ClinGen ExAC
CA2888360 rs774644471	1122	E>A		No	ClinGen ExAC gnomAD
rs1330541996 CA356592134	1122	E>D		No	ClinGen Ensembl
CA356592124 rs1578895278	1122	E>K		No	ClinGen Ensembl
rs1560286389 CA356592138	1123	S>G		No	ClinGen Ensembl
CA356592192 rs1201254587	1127	Q>L		No	ClinGen gnomAD
CA95600516 rs868748789	1128	A>T		No	ClinGen Ensembl
CA95600517 rs962513999	1129	M>V		No	ClinGen TOPMed gnomAD
rs1560286515 CA356592231	1130	L>F		No	ClinGen Ensembl
rs1361844202 CA356592254	1132	L>*		No	ClinGen TOPMed gnomAD
CA2888366 rs773876434	1134	L>M		No	ClinGen ExAC gnomAD
rs1428544673 CA356592293	1135	E>G		No	ClinGen gnomAD
CA2888369 rs13110318	1136	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs13110318 CA356592305	1136	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs13110318 VAR_028093 CA2888368	1136	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766617088 CA2888367	1136	R>W		No	ClinGen ExAC gnomAD
CA95600567 COSM3696638 rs965050635	1137	S>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA2888372 rs151143743	1142	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2888375 rs553165101	1143	V>A		No	ClinGen 1000Genomes ExAC TOPMed
rs140049928 CA95600645	1144	E>V		No	ClinGen ESP gnomAD
CA356592395 rs1253011248	1145	E>*		No	ClinGen TOPMed
rs1252570429 CA356592409	1146	L>Q		No	ClinGen gnomAD
rs779593048 CA2888377	1146	L>V		No	ClinGen ExAC gnomAD
CA2888379 rs150295101	1147	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2888378 rs748930884 COSM1055092	1147	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2888380 rs573080470	1148	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2888381 rs748410180	1148	R>Q		No	ClinGen ExAC gnomAD
rs573080470 CA95600667	1148	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs138981524 CA2888383	1149	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs138981524 CA2888384	1149	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2888382 rs772516545	1149	R>W		No	ClinGen ExAC TOPMed gnomAD
rs776786407 CA2888386	1150	S>N		No	ClinGen ExAC gnomAD
rs759679483 CA2888387	1150	S>R		No	ClinGen ExAC gnomAD
rs542095382 CA2888389	1151	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2888391 rs767345485	1154	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2888392 rs750345552	1155	D>H		No	ClinGen ExAC TOPMed gnomAD
rs750345552 CA356592505	1155	D>N		No	ClinGen ExAC TOPMed gnomAD
CA95600765 rs750345552	1155	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs767762010 RCV000977701	1156	R>missing		No	ClinVar dbSNP
rs145834587 CA356592522	1156	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2888395 rs145834587	1156	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2888394 rs142224285	1156	R>W		No	ClinGen ExAC TOPMed gnomAD
rs753287454 CA2888396	1157	E>K		No	ClinGen ExAC gnomAD
CA356592543 rs1487255614	1158	P>S		No	ClinGen TOPMed
rs900061124 CA95600796	1160	C>F		No	ClinGen TOPMed
rs1578896664 CA356592571	1160	C>G		No	ClinGen Ensembl
CA356592584 rs1361151463	1161	T>A		No	ClinGen gnomAD
CA356592586 rs575644987	1161	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575644987 CA2888397	1161	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356592582 rs1361151463	1161	T>P		No	ClinGen gnomAD
rs752444950 CA2888399	1162	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1188008731 CA356592613	1163	P>L		No	ClinGen gnomAD
CA2888400 rs758678721	1164	E>K		No	ClinGen ExAC gnomAD
CA2888401 rs375094591	1166	T>M		No	ClinGen ESP ExAC TOPMed
CA356592661 rs1578896985	1167	G>D		No	ClinGen Ensembl
CA356592655 rs1578896967	1167	G>S		No	ClinGen Ensembl
CA356592668 rs781771203	1168	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2888404 rs781771203	1168	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356592687 rs1426804155	1169	D>R		No	ClinGen gnomAD

No associated diseases with Q86TI0

4 regional properties for Q86TI0

Type	Name	Position	InterPro Accession
domain	Rab-GAP-TBC domain	797 - 1017	IPR000195
domain	PTB/PI domain	16 - 164	IPR006020-1
domain	PTB/PI domain	168 - 384	IPR006020-2
domain	Domain of unknown function DUF3350	690 - 745	IPR021785

Functions

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

1 GO annotations of cellular component

Name	Definition
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

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.

1 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.

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
O60343	TBC1D4	TBC1 domain family member 4	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
Q60949	Tbc1d1	TBC1 domain family member 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEPITFTARK	HLLSNEVSVD	FGLQLVGSLP	VHSLTTMPML	PWVVAEVRRL	SRQSTRKEPV
70	80	90	100	110	120
TKQVRLCVSP	SGLRCEPEPG	RSQQWDPLIY	SSIFECKPQR	VHKLIHNSHD	PSYFACLIKE
130	140	150	160	170	180
DAVHRQSICY	VFKADDQTKV	PEIISSIRQA	GKIARQEELH	CPSEFDDTFS	KKFEVLFCGR
190	200	210	220	230	240
VTVAHKKAPP	ALIDECIEKF	NHVSGSRGSE	SPRPNPPHAA	PTGSQEPVRR	PMRKSFSQPG
250	260	270	280	290	300
LRSLAFRKEL	QDGGLRSSGF	FSSFEESDIE	NHLISGHNIV	QPTDIEENRT	MLFTIGQSEV
310	320	330	340	350	360
YLISPDTKKI	ALEKNFKEIS	FCSQGIRHVD	HFGFICRESS	GGGGFHFVCY	VFQCTNEALV
370	380	390	400	410	420
DEIMMTLKQA	FTVAAVQQTA	KAPAQLCEGC	PLQSLHKLCE	RIEGMNSSKT	KLELQKHLTT
430	440	450	460	470	480
LTNQEQATIF	EEVQKLRPRN	EQRENELIIS	FLRCLYEEKQ	KEHIHIGEMK	QTSQMAAENI
490	500	510	520	530	540
GSELPPSATR	FRLDMLKNKA	KRSLTESLES	ILSRGNKARG	LQEHSISVDL	DSSLSSTLSN
550	560	570	580	590	600
TSKEPSVCEK	EALPISESSF	KLLGSSEDLS	SDSESHLPEE	PAPLSPQQAF	RRRANTLSHF
610	620	630	640	650	660
PIECQEPPQP	ARGSPGVSQR	KLMRYHSVST	ETPHERKDFE	SKANHLGDSG	GTPVKTRRHS
670	680	690	700	710	720
WRQQIFLRVA	TPQKACDSSS	RYEDYSELGE	LPPRSPLEPV	CEDGPFGPPP	EEKKRTSREL
730	740	750	760	770	780
RELWQKAILQ	QILLLRMEKE	NQKLQASEND	LLNKRLKLDY	EEITPCLKEV	TTVWEKMLST
790	800	810	820	830	840
PGRSKIKFDM	EKMHSAVGQG	VPRHHRGEIW	KFLAEQFHLK	HQFPSKQQPK	DVPYKELLKQ
850	860	870	880	890	900
LTSQQHAILI	DLGRTFPTHP	YFSAQLGAGQ	LSLYNILKAY	SLLDQEVGYC	QGLSFVAGIL
910	920	930	940	950	960
LLHMSEEEAF	KMLKFLMFDM	GLRKQYRPDM	IILQIQMYQL	SRLLHDYHRD	LYNHLEEHEI
970	980	990	1000	1010	1020
GPSLYAAPWF	LTMFASQFPL	GFVARVFDMI	FLQGTEVIFK	VALSLLGSHK	PLILQHENLE
1030	1040	1050	1060	1070	1080
TIVDFIKSTL	PNLGLVQMEK	TINQVFEMDI	AKQLQAYEVE	YHVLQEELID	SSPLSDNQRM
1090	1100	1110	1120	1130	1140
DKLEKTNSSL	RKQNLDLLEQ	LQVANGRIQS	LEATIEKLLS	SESKLKQAML	TLELERSALL
1150	1160
QTVEELRRRS	AEPSDREPEC	TQPEPTGD