AiPD: Autoinhibited Protein Database

Q96K76

Gene name	USP47
Protein name	Ubiquitin carboxyl-terminal hydrolase 47
Names	Deubiquitinating enzyme 47, Ubiquitin thioesterase 47, Ubiquitin-specific-processing protease 47
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55031
EC number	3.4.19.12: Omega peptidases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

104-208 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

104-208 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q96K76

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96K76-F1	Predicted				AlphaFoldDB

851 variants for Q96K76

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA379674597 rs772250799	2	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5887658 rs772250799	2	V>E		No	ClinGen ExAC TOPMed gnomAD
CA5887657 rs746093600	2	V>L		No	ClinGen ExAC gnomAD
rs1302567973 CA379674634	4	G>A		No	ClinGen gnomAD
rs1403694735 CA379674622	4	G>C		No	ClinGen gnomAD
CA379674650 rs1286991659	5	E>G		No	ClinGen gnomAD
rs761562169 CA5887660	5	E>K		No	ClinGen ExAC gnomAD
rs1335596054 CA379674665	6	E>G		No	ClinGen gnomAD
CA5887662 rs773163820	11	P>A		No	ClinGen ExAC TOPMed gnomAD
rs773163820 CA217753941	11	P>S		No	ClinGen ExAC TOPMed gnomAD
CA217753929 rs773163820	11	P>T		No	ClinGen ExAC TOPMed gnomAD
CA379674750 rs1291954369	12	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1246275571 CA379674761	13	E>K		No	ClinGen TOPMed
CA217721118 rs988752630	14	D>A		No	ClinGen TOPMed gnomAD
CA379678811 rs988752630	14	D>G		No	ClinGen TOPMed gnomAD
CA217721121 rs768122804	15	V>G		No	ClinGen Ensembl
rs745328689 CA5887670	18	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1000337869 CA217721122	19	C>R		No	ClinGen gnomAD
CA217721126 rs914386408	21	Q>K		No	ClinGen TOPMed
rs1269292791 CA379679010	23	I>M		No	ClinGen gnomAD
CA217721135 rs769790488	23	I>V		No	ClinGen Ensembl
rs1056371748 CA217721143	24	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	26	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754410503 CA5887671	26	E>D		No	ClinGen ExAC TOPMed gnomAD
CA217721147 rs889546704	29	K>N		No	ClinGen TOPMed gnomAD
CA217721148 rs533131577	30	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	31	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1040680351 CA217721149	33	Q>*		No	ClinGen TOPMed gnomAD
CA379679969 rs1177524892	34	I>L		No	ClinGen gnomAD
CA379679968 rs1177524892	34	I>V		No	ClinGen gnomAD
rs1564861832 CA379679994	37	A>G		No	ClinGen Ensembl
CA379680019 rs1474143055	41	P>A		No	ClinGen TOPMed
rs1389823438 CA379680022	41	P>L		No	ClinGen gnomAD
rs1170587681 CA379680036	43	V>D		No	ClinGen gnomAD
CA379680033 rs1407846384	43	V>F		No	ClinGen TOPMed gnomAD
rs1407846384 CA379680032	43	V>L		No	ClinGen TOPMed gnomAD
rs976320707 CA217726220	45	C>W		No	ClinGen TOPMed
CA379680052 rs1432540298	46	I>V		No	ClinGen TOPMed gnomAD
CA379680059 rs1457846468	47	I>V		No	ClinGen gnomAD
CA217726235 rs772592206	48	Q>K		No	ClinGen Ensembl
rs1280669944 CA379680069	48	Q>R		No	ClinGen TOPMed
rs1220956079 CA379680084	50	T>I		No	ClinGen TOPMed
rs1220956079 CA379680085	50	T>S		No	ClinGen TOPMed
rs773737486 CA217726241	51	T>A		No	ClinGen TOPMed gnomAD
rs1299146543 CA379680114	55	T>A		No	ClinGen gnomAD
CA217726247 rs929606379	55	T>K		No	ClinGen TOPMed
CA379680113 rs1299146543	55	T>S		No	ClinGen gnomAD
rs1301527573 CA379680143	59	R>Q		No	ClinGen TOPMed
rs1047912006 CA217726249	59	R>W		No	ClinGen TOPMed gnomAD
CA379680181 rs1380936266	65	P>S		No	ClinGen gnomAD
CA379680194 rs947674946	67	S>C		No	ClinGen TOPMed gnomAD
CA217726253 rs947674946	67	S>Y		No	ClinGen TOPMed gnomAD
rs1046083926 CA217726257	68	T>A		No	ClinGen TOPMed
CA379680196 rs1046083926	68	T>P		No	ClinGen TOPMed
rs979227341 CA217726274	72	K>R		No	ClinGen Ensembl
CA379680261 rs1213976029	77	V>A		No	ClinGen TOPMed gnomAD
CA379680263 rs1260330892	78	A>T		No	ClinGen gnomAD
TCGA novel	79	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379680272 rs1312300622	79	N>T		No	ClinGen gnomAD
CA379680284 rs1383138254	80	K>N		No	ClinGen TOPMed
rs541457297 CA5887676	83	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379680316 rs1188303603	85	N>S		No	ClinGen gnomAD
CA379680329 rs1590288729	87	T>N		No	ClinGen Ensembl
rs1267394579 CA379680359	91	V>G		No	ClinGen gnomAD
rs1200781645 CA379680361	92	W>R		No	ClinGen gnomAD
CA379680371 rs1399304991	93	G>E		No	ClinGen gnomAD
rs761067902 CA5887677	93	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1564861926 CA379680387	95	G>V		No	ClinGen Ensembl
CA379680393 rs1157975730	96	I>T		No	ClinGen gnomAD
CA379680396 rs1564861939	97	N>D		No	ClinGen Ensembl
CA217729169 rs572567803	103	P>L		No	ClinGen Ensembl
CA379680871 rs1239833443	103	P>S		No	ClinGen TOPMed
CA5887693 rs765892637	108	S>N		No	ClinGen ExAC TOPMed gnomAD
rs781125957 CA5887694	109	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1294614924 CA379680919	110	K>R		No	ClinGen gnomAD
rs758436182 CA5887695	111	S>A		No	ClinGen ExAC TOPMed gnomAD
rs758436182 CA217729210	111	S>P		No	ClinGen ExAC TOPMed gnomAD
CA217729217 rs953109594	112	L>R		No	ClinGen TOPMed
CA5887697 rs747206217	113	L>P		No	ClinGen ExAC gnomAD
CA379680939 rs1181410660	114	D>G		No	ClinGen TOPMed gnomAD
CA5887699 rs34511735	114	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA217729286 rs34511735	114	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5887701 rs558907261	115	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1164868664 CA379680960	117	F>S		No	ClinGen gnomAD
CA379680964 rs1417298836	118	E>K		No	ClinGen gnomAD
CA5887703 rs745337382	120	G>E		No	ClinGen ExAC TOPMed gnomAD
rs982172227 CA217729338	122	K>E		No	ClinGen TOPMed
CA217729344 rs867189632	125	L>M		No	ClinGen Ensembl
CA379681016 rs1335012204	125	L>R		No	ClinGen gnomAD
rs763898350 CA5887708	126	H>R		No	ClinGen ExAC gnomAD
CA379681037 rs1285963063	128	T>I		No	ClinGen gnomAD
rs777114187 CA5887709	131	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1453438175 CA379681056	131	D>Y		No	ClinGen TOPMed
rs1214560840 CA379681063	132	G>D		No	ClinGen gnomAD
rs1040515893 CA217729369	132	G>S		No	ClinGen Ensembl
CA5887711 rs185779438	136	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5887735 rs752932104	141	D>A		No	ClinGen ExAC gnomAD
CA5887736 rs61729667	143	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA217734608 rs202203693	143	S>T		No	ClinGen gnomAD
CA379681520 rs1283177748	148	S>N		No	ClinGen gnomAD
CA379681509 rs1403696627	148	S>R		No	ClinGen gnomAD
rs1564867207 CA379681541	149	V>D		No	ClinGen Ensembl
rs1353123970 CA379681533	149	V>I		No	ClinGen TOPMed
rs778569445 CA5887737	152	R>G		No	ClinGen ExAC gnomAD
CA5887738 rs750291434	152	R>T		No	ClinGen ExAC gnomAD
rs375277420 CA217734622	155	G>A		No	ClinGen Ensembl
rs772669461 CA5887739	156	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772669461 CA217734624	156	P>R		No	ClinGen ExAC TOPMed gnomAD
CA217734623 rs966149970	156	P>S		No	ClinGen TOPMed gnomAD
rs1287624743 CA379681686	157	L>V		No	ClinGen gnomAD
TCGA novel	159	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	160	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5887742 rs768301057	161	G>S		No	ClinGen ExAC gnomAD
rs11022079 CA379681746	163	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379681745 rs11022079	163	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5887743 rs780933409	163	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5887744 rs11022079 VAR_022787	163	G>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA217734646 rs951737317	166	T>P		No	ClinGen TOPMed
CA5887745 rs769633495	167	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5887746 rs773431305	167	S>I		No	ClinGen ExAC gnomAD
rs1159349874 CA379681825	169	Y>D		No	ClinGen gnomAD
rs763420972 CA5887747	171	S>G		No	ClinGen ExAC gnomAD
CA5887749 rs774948221	174	Y>C		No	ClinGen ExAC gnomAD
rs774177436 CA5887750	176	Y>*		No	ClinGen ExAC
CA5887752 rs759558302	178	S>T		No	ClinGen ExAC
rs767592598 CA5887753	178	S>Y		No	ClinGen ExAC gnomAD
rs760874416 CA5887755	179	I>S		No	ClinGen ExAC
rs781412882 CA5887754	179	I>V		No	ClinGen ExAC TOPMed gnomAD
rs764428352 CA5887756	181	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	182	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5887775 rs762595912	189	G>E		No	ClinGen ExAC gnomAD
CA379682897 rs1408684317	189	G>R		No	ClinGen gnomAD
rs1368377351 CA379682906	190	L>R		No	ClinGen TOPMed
CA379683111 rs1249188415	207	F>L		No	ClinGen TOPMed
CA379683265 rs1180928194	217	Y>C		No	ClinGen TOPMed
rs765431614 CA5887794	219	W>L		No	ClinGen ExAC
CA217743305 rs752443640	223	E>Q		No	ClinGen Ensembl
rs1203404673 CA379684703	230	T>R		No	ClinGen gnomAD
rs755515122 CA5887799	234	Y>H		No	ClinGen ExAC gnomAD
rs1480294310 CA379684910	244	Q>E		No	ClinGen gnomAD
rs1564871898 CA379684936	247	K>R		No	ClinGen Ensembl
TCGA novel	247	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5887802 rs756912401	249	R>S		No	ClinGen ExAC gnomAD
CA5887804 rs377116321	251	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA217743388 rs781077785	252	E>Q		No	ClinGen TOPMed gnomAD
rs1225300920 CA379685000	257	T>S		No	ClinGen TOPMed
rs529040280 CA5887806	258	R>G		No	ClinGen ExAC TOPMed gnomAD
CA379685006 rs529040280	258	R>W		No	ClinGen ExAC TOPMed gnomAD
rs947354671 CA217743414	259	S>G		No	ClinGen Ensembl
rs1316322133 CA379685057	261	G>R		No	ClinGen TOPMed
rs750088189 CA5887823	271	H>Y		No	ClinGen ExAC gnomAD
rs758693482 CA5887824	273	V>I		No	ClinGen ExAC gnomAD
CA379685392 rs1479850069	277	C>W		No	ClinGen gnomAD
rs781584976 CA5887828	283	A>S		No	ClinGen ExAC gnomAD
CA379685499 rs1590342170	287	K>R		No	ClinGen Ensembl
rs1441030186 CA379685510	288	W>C		No	ClinGen gnomAD
rs748216892 CA5887829	288	W>L		No	ClinGen ExAC gnomAD
CA217743881 rs918325209	292	E>K		No	ClinGen gnomAD
CA379685569 rs1564872915	295	D>A		No	ClinGen Ensembl
rs1306160847 CA379685566	295	D>N		No	ClinGen gnomAD
CA5887842 rs766068779	298	N>D		No	ClinGen ExAC gnomAD
CA5887843 rs751916309	298	N>S		No	ClinGen ExAC
CA5887844 rs755326359	299	E>G		No	ClinGen ExAC gnomAD
CA379685656 rs1471548177	308	Y>N		No	ClinGen TOPMed
CA379685676 rs1183559151	310	R>S		No	ClinGen gnomAD
rs374587081 CA5887848	317	E>A		No	ClinGen ESP ExAC gnomAD
rs1168702537 CA379685737	319	W>S		No	ClinGen gnomAD
rs757521489 CA5887850	323	T>I		No	ClinGen ExAC gnomAD
rs910314300 CA217745507	323	T>S		No	ClinGen TOPMed
rs1279295619 CA379685823	332	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA379685837 rs1356152273	334	Y>F		No	ClinGen TOPMed
CA379685840 rs1235681817	335	G>R		No	ClinGen TOPMed
rs1322889553 CA379685848	336	S>A		No	ClinGen gnomAD
CA5887856 rs769781045	337	S>I		No	ClinGen ExAC gnomAD
CA379685856 rs769781045	337	S>T		No	ClinGen ExAC gnomAD
rs772686803 CA5887857	338	Q>K		No	ClinGen ExAC gnomAD
CA379685876 rs1240288641	340	F>C		No	ClinGen gnomAD
CA5887869 rs753929062	348	H>N		No	ClinGen ExAC TOPMed gnomAD
rs377565253 CA217756530	348	H>R		No	ClinGen ESP TOPMed
rs1217823437 CA379687523	353	P>L		No	ClinGen Ensembl
rs746084113 CA5887872	357	D>G		No	ClinGen ExAC gnomAD
TCGA novel	358	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5887875 rs747984637	365	E>K		No	ClinGen ExAC gnomAD
CA217756590 rs1035384070	366	R>C		No	ClinGen Ensembl
rs542320696 CA217756600	366	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA379687612 rs542320696	366	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs542320696 CA5887876	366	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1419123319 CA379687618	367	C>F		No	ClinGen gnomAD
rs773160021 CA5887877	369	K>R		No	ClinGen ExAC gnomAD
rs1299361681	370	K>missing	Variant assessed as Somatic; 4.653e-05 impact. [NCI-TCGA]	No	NCI-TCGA
COSM24323 CA5887878 rs374867647	374	R>Q	large_intestine skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA379687667 rs1403495598	374	R>W		No	ClinGen TOPMed gnomAD
CA5887895 rs752445357	378	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	383	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs987980693 CA217756731	384	Y>H		No	ClinGen Ensembl
TCGA novel	385	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	386	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379687773 rs1161489184	389	Q>E		No	ClinGen TOPMed
rs777625787 CA379687808	394	D>H		No	ClinGen ExAC TOPMed gnomAD
CA5887897 rs777625787	394	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5887898 rs749225992	396	D>E		No	ClinGen ExAC gnomAD
rs1446895878 CA379687841	398	T>K		No	ClinGen gnomAD
rs770961616 CA5887899	399	T>A		No	ClinGen ExAC TOPMed gnomAD
CA379687846 rs1189532364	399	T>N		No	ClinGen TOPMed
rs138329346 CA5887900	401	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	402	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	408	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM923868 CA5887902 rs771588511	408	R>Q	endometrium Variant assessed as Somatic; 4.654e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5887903 rs375371314	409	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	410	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866411042 CA217756830	412	P>L		No	ClinGen Ensembl
CA379688009 rs1442826958	413	E>K		No	ClinGen gnomAD
CA379688033 rs1369503457	414	E>G		No	ClinGen gnomAD
CA5887911 rs372596116	416	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs765821727 COSM1604203 COSM3666128 CA5887908	416	D>H	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5887909 rs765821727	416	D>N		No	ClinGen ExAC TOPMed gnomAD
rs372596116 CA5887910	416	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465872144 COSM415308 CA379688079	417	M>I	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1247551417 CA379688071	417	M>L		No	ClinGen TOPMed
rs751790766 CA5887912	418	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5887913 rs755836710	418	S>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	419	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379688134 rs777537721	421	I>S		No	ClinGen ExAC TOPMed gnomAD
CA5887914 rs777537721	421	I>T		No	ClinGen ExAC TOPMed gnomAD
CA217756928 rs375823623	422	D>G		No	ClinGen ESP TOPMed
TCGA novel	426	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1297469133 CA379689008	427	K>I		No	ClinGen gnomAD
CA379689018 rs762880446	429	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	429	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768629120	429	P>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs762880446 CA5887934	429	P>S		No	ClinGen ExAC TOPMed gnomAD
CA379689077 rs1310596217	435	T>S		No	ClinGen gnomAD
rs751702861 CA5887936	441	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA217758514 rs925265482	447	S>G		No	ClinGen Ensembl
CA379689281 rs1488826873	449	Q>H		No	ClinGen TOPMed gnomAD
CA5887937 rs371165865	451	S>N		No	ClinGen ESP ExAC gnomAD
CA5887939 rs753537931 COSM3979184 COSM3979183	452	N>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA217758522 rs1022990588 COSM923870	453	D>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1564881194 CA379689370	456	N>H		No	ClinGen Ensembl
CA5887941 rs765031752	456	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379689393 TCGA novel rs1361029508	457	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs1157997381 CA379689389	457	D>G		No	ClinGen gnomAD
CA379689406 rs1401624481	458	D>G		No	ClinGen gnomAD
rs758480248 CA5887943	460	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	466	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5887946 rs754643278	468	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1237971771 CA379689511	469	N>I		No	ClinGen TOPMed gnomAD
rs1237971771 CA379689512	469	N>S		No	ClinGen TOPMed gnomAD
rs1285932936 CA379689531	472	T>S		No	ClinGen gnomAD
CA379689557 rs1590384991	475	I>M		No	ClinGen Ensembl
CA5887947 rs781019127	476	S>A		No	ClinGen ExAC TOPMed gnomAD
CA379689573 rs1488341561	478	S>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770207458 CA5887949	479	G>V		No	ClinGen ExAC gnomAD
rs1253292997 CA379689587	480	L>P		No	ClinGen TOPMed
rs773523446 CA379689589	481	E>*		No	ClinGen ExAC gnomAD
CA5887950 rs773523446	481	E>Q		No	ClinGen ExAC gnomAD
rs749795624 CA5887951	482	K>R		No	ClinGen ExAC gnomAD
rs1330894766 CA379690000	484	S>F		No	ClinGen gnomAD
CA379690007 rs1266634840	485	L>F		No	ClinGen TOPMed gnomAD
CA379690010 rs1401164966	486	I>V		No	ClinGen gnomAD
CA217762489 rs966555918	492	V>A		No	ClinGen Ensembl
rs772148172 CA5887974	494	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	495	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379690114 rs1590401177	501	G>A		No	ClinGen Ensembl
rs1315346394 CA379690132	504	Y>H		No	ClinGen gnomAD
rs1258264052 CA379690141	505	Y>C		No	ClinGen gnomAD
rs773026408 CA5887978	505	Y>D		No	ClinGen ExAC gnomAD
CA5887979 rs762868889	508	I>V		No	ClinGen ExAC gnomAD
rs766366639 CA5887980	509	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	510	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5887981 rs751552624	512	S>T		No	ClinGen ExAC
CA379690200 rs759048866	513	D>E		No	ClinGen ExAC TOPMed gnomAD
rs371568699 CA5887983	517	Y>C		No	ClinGen ESP ExAC gnomAD
rs752205347 CA5887984	520	N>D		No	ClinGen ExAC gnomAD
CA379690253 rs1477350072	520	N>S		No	ClinGen TOPMed gnomAD
rs1248354436 CA379690256	521	D>N		No	ClinGen TOPMed
CA217762557 rs748974808	523	H>L		No	ClinGen Ensembl
CA5887985 rs755767497	524	V>G		No	ClinGen ExAC gnomAD
CA5888006 rs763745607	527	I>V		No	ClinGen ExAC gnomAD
CA379690322 rs1235779634	528	T>I		No	ClinGen gnomAD
rs1464637553 CA379690331	530	E>K		No	ClinGen TOPMed
TCGA novel	531	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1352984620 CA379690348	532	I>V		No	ClinGen gnomAD
CA379690363 rs1374878510	534	K>E		No	ClinGen TOPMed
rs756974901 CA5888008	536	H>Q		No	ClinGen ExAC gnomAD
rs753494348 CA5888007	536	H>R		No	ClinGen ExAC gnomAD
rs1388768199 CA379690388	538	G>R		No	ClinGen TOPMed
CA5888010 rs199712587	542	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379690433 rs1479944280	544	G>A		No	ClinGen Ensembl
rs368134467 CA379690437	545	Y>C		No	ClinGen ESP TOPMed gnomAD
CA217762968 rs368134467	545	Y>S		No	ClinGen ESP TOPMed gnomAD
rs1419671716 CA379690461	548	S>T		No	ClinGen gnomAD
CA5888014 rs768628776	550	F>L		No	ClinGen ExAC TOPMed gnomAD
rs748376036 CA379690478	551	A>S		No	ClinGen ExAC TOPMed gnomAD
rs748376036 CA5888016	551	A>T		No	ClinGen ExAC TOPMed gnomAD
CA379690486 rs1212665130	552	S>T		No	ClinGen TOPMed
rs371448620 CA5888036	554	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs778165615 CA5888037	555	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1213210594 CA379690552	560	I>V		No	ClinGen TOPMed
COSM3666129 CA379690562 COSM1604204 rs1284613461	561	Y>C	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5888053 rs752783223	574	E>G		No	ClinGen ExAC gnomAD
rs1216284743 CA379690677	576	D>G		No	ClinGen TOPMed
rs1298499468 CA379690684	577	E>G		No	ClinGen TOPMed
rs778075908 CA5888055 COSM923878	577	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs377348739 CA217764442	580	E>K		No	ClinGen Ensembl
rs928665517 CA217764447	582	I>V		No	ClinGen TOPMed
rs757558852 CA5888057	584	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1253196018 CA379690775	590	R>G		No	ClinGen gnomAD
rs1342922053 CA379690778	590	R>T		No	ClinGen TOPMed gnomAD
rs746865761 CA5888059	591	E>V		No	ClinGen ExAC gnomAD
rs1443696988 CA379690816	595	Q>R		No	ClinGen gnomAD
CA379690842 rs1404296033	598	R>S		No	ClinGen TOPMed
CA5888061 rs776574999	600	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs369461320 CA5888062	600	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA379690864 rs1262920347	602	I>V		No	ClinGen gnomAD
rs1428794248 CA379690878	604	R>C		No	ClinGen gnomAD
rs373066181 CA5888064	604	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373066181 CA5888063	604	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs61761595 CA217764468	605	N>S		No	ClinGen TOPMed gnomAD
CA5888066 rs770665364	606	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1478913464 CA379690888	606	T>S		No	ClinGen TOPMed
rs1398063637 CA379690902	608	K>E		No	ClinGen gnomAD
CA5888068 rs760008900	608	K>R		No	ClinGen ExAC gnomAD
rs1309125981 CA379690920	609	I>V		No	ClinGen gnomAD
rs912337525 CA217764818	614	L>W		No	ClinGen Ensembl
rs777123917 CA5888084	615	H>R		No	ClinGen ExAC gnomAD
rs369697716 CA217764819	616	P>R		No	ClinGen ESP
CA5888085 rs748869099	616	P>S		No	ClinGen ExAC gnomAD
rs1590411264 CA379690977	617	T>S		No	ClinGen Ensembl
rs1196793250 CA379690999	620	V>I		No	ClinGen Ensembl
CA379691007 rs1487992580	621	M>T		No	ClinGen gnomAD
CA217764820 rs374383255	628	V>I		No	ClinGen ESP gnomAD
CA5888087 rs774074407	629	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1177969269 CA379691068	629	H>R		No	ClinGen gnomAD
rs774074407 CA379691066	629	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs759914829 CA5888088	631	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1375351330 CA379691088	632	K>E		No	ClinGen TOPMed
CA5888089 rs772563006	633	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1378904680 CA379691119	636	E>G		No	ClinGen Ensembl
CA379691115 rs1162496387	636	E>K		No	ClinGen gnomAD
CA5888090 rs776055775	637	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5888091 rs761242043	638	V>I		No	ClinGen ExAC gnomAD
rs1326775668 CA379691144	640	M>R		No	ClinGen TOPMed gnomAD
rs1326775668 CA379691145	640	M>T		No	ClinGen TOPMed gnomAD
rs1396827955 CA379691154	641	A>V		No	ClinGen gnomAD
rs377764171 CA5888092	643	K>E		No	ClinGen ESP ExAC gnomAD
rs1167533794 CA379691525	644	M>V		No	ClinGen gnomAD
rs901667034 CA217721384	646	D>N		No	ClinGen TOPMed gnomAD
CA379691563 rs901667034	646	D>Y		No	ClinGen TOPMed gnomAD
rs773334178 CA5888121	651	I>T		No	ClinGen ExAC gnomAD
CA379691644 rs1174579909	652	P>A		No	ClinGen TOPMed gnomAD
CA379691646 rs1174579909	652	P>S		No	ClinGen TOPMed gnomAD
CA379691675 rs1435866368	654	D>G		No	ClinGen gnomAD
rs763135771 CA5888122	657	R>S		No	ClinGen ExAC gnomAD
rs766627746 CA5888123	660	K>E		No	ClinGen ExAC gnomAD
rs1429644860 CA379691769	661	Y>S		No	ClinGen gnomAD
CA217721407 rs36096029	662	D>N		No	ClinGen Ensembl
rs370810608 CA5888129	670	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs370810608 CA5888128	670	R>Q		No	ClinGen ESP ExAC gnomAD
CA5888127 rs753811395	670	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1192787892 CA379691906	671	S>A		No	ClinGen gnomAD
rs529502526 CA217721436	673	E>Q		No	ClinGen Ensembl
CA379691948 rs1346645142	674	G>R		No	ClinGen gnomAD
CA379691961 rs1189602937	675	E>K		No	ClinGen gnomAD
rs1394550778 CA379691970	675	E>V		No	ClinGen gnomAD
CA379691983 rs1455113154	676	E>G		No	ClinGen gnomAD
rs1225584512 CA379691977	676	E>K		No	ClinGen TOPMed gnomAD
rs748071532	676	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs747323060 CA5888134	677	D>E		No	ClinGen ExAC gnomAD
rs1359047924 CA379692011	678	T>I		No	ClinGen gnomAD
CA379692008 rs1359047924	678	T>K		No	ClinGen gnomAD
rs769073716 CA5888135	679	P>S		No	ClinGen ExAC gnomAD
CA5888137 rs748672911	680	M>T		No	ClinGen ExAC gnomAD
CA5888136 rs199605088	680	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA217721488 rs913953950	681	G>R		No	ClinGen TOPMed
CA5888138 rs770249575	682	L>F		No	ClinGen ExAC TOPMed gnomAD
CA379692050 rs770249575	682	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA217721506 rs1000958603	682	L>P		No	ClinGen Ensembl
CA5888141 rs763051338	684	L>P		No	ClinGen ExAC gnomAD
rs772174030 CA5888139	686	G>Y		No	ClinGen ExAC gnomAD
CA5888144 rs759745033	687	V>A		No	ClinGen ExAC TOPMed gnomAD
rs181874778 CA5888143	687	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379692113 rs1449020716	688	K>R		No	ClinGen gnomAD
CA379692135 rs1219606429	690	T>A		No	ClinGen gnomAD
rs370883890 CA5888147	692	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs370883890 CA5888148	692	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs753628218 CA5888146	692	M>V		No	ClinGen ExAC gnomAD
CA5888150 rs374519745	699	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	700	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746665626 CA5888152	701	K>R		No	ClinGen ExAC gnomAD
rs1182448959 CA379692299	702	P>S		No	ClinGen TOPMed
rs754640795 CA5888153	703	D>E		No	ClinGen ExAC gnomAD
rs1455718505 CA379692337	704	Q>H		No	ClinGen gnomAD
rs970972495 CA217721567	707	Q>P		No	ClinGen TOPMed
CA379692370 rs970972495	707	Q>R		No	ClinGen TOPMed
rs1329244077 CA379692378	708	S>F		No	ClinGen gnomAD
CA379692390 rs1239673232	710	K>E		No	ClinGen gnomAD
rs549558632 CA217721591	711	P>H		No	ClinGen Ensembl
TCGA novel	712	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379692497 rs1335817995	714	V>L		No	ClinGen gnomAD
CA379692519 rs1389174230	716	V>M		No	ClinGen TOPMed gnomAD
rs1235337623 CA379692556	719	H>R		No	ClinGen gnomAD
CA5888173 rs571308316	725	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5888174 rs534107988	726	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1172573541 CA379692613	728	V>L		No	ClinGen TOPMed
CA379692629 rs1413274435	730	A>V		No	ClinGen TOPMed
rs375343232 CA5888175	731	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs779021624 CA5888177	732	I>M		No	ClinGen ExAC gnomAD
CA379692638 rs1191027827	732	I>T		No	ClinGen gnomAD
rs771477579 CA5888176	732	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1250305965 CA379692644	733	T>S		No	ClinGen TOPMed
TCGA novel	734	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1205044337 CA379692654	735	R>C		No	ClinGen TOPMed
CA5888178 COSM252912 rs745967101	735	R>H	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA379692656 rs745967101	735	R>L		No	ClinGen ExAC TOPMed gnomAD
CA379692655 rs745967101	735	R>P		No	ClinGen ExAC TOPMed gnomAD
rs547259515 CA5888179	737	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA379692692 rs1252583310	740	Q>H		No	ClinGen TOPMed
CA379692690 rs1400057817	740	Q>R		No	ClinGen gnomAD
CA379692694 rs1434027419	741	T>A		No	ClinGen TOPMed gnomAD
CA5888181 rs761606687	742	V>G		No	ClinGen ExAC gnomAD
CA5888180 rs202054663	742	V>I		No	ClinGen ExAC TOPMed gnomAD
rs769711308 CA5888182	743	T>I		No	ClinGen ExAC TOPMed gnomAD
rs769711308 CA217722768	743	T>K		No	ClinGen ExAC TOPMed gnomAD
CA379692706 rs769711308	743	T>R		No	ClinGen ExAC TOPMed gnomAD
CA379692724 rs1325936866	746	K>E		No	ClinGen gnomAD
rs773195332 CA5888183	746	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1263665971 CA379692748	749	I>T		No	ClinGen gnomAD
rs758415441 CA5888197	753	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5888196 rs745905359	753	I>V		No	ClinGen ExAC gnomAD
rs747225079 CA5888199	758	E>G		No	ClinGen ExAC gnomAD
rs1234227210 CA379692815	758	E>K		No	ClinGen gnomAD
TCGA novel	760	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350504981 CA379692833	760	M>T		No	ClinGen gnomAD
rs1466617582 CA379692837	761	R>G		No	ClinGen TOPMed
CA5888200 rs769046134	761	R>K		No	ClinGen ExAC gnomAD
rs749124787 CA5888202	762	I>M		No	ClinGen ExAC gnomAD
CA5888201 rs369918899	762	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA217724358 rs973723236	762	I>V		No	ClinGen TOPMed gnomAD
CA5888204 rs372514729	764	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs759019094 CA5888205	766	R>C		No	ClinGen ExAC TOPMed gnomAD
rs545063837 CA5888206	766	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5888208 rs559053264	767	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA5888209 rs763768897	769	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379692900 rs1364128948 COSM686872	771	L>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
COSM3808576 CA5888210 COSM3808575 rs754155092	772	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs572208026 CA5888211	772	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	773	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs932545528 CA217724443	778	S>G		No	ClinGen Ensembl
rs765711456 CA5888212	782	K>R		No	ClinGen ExAC gnomAD
TCGA novel	784	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5888214 rs759004931	788	R>G		No	ClinGen ExAC TOPMed gnomAD
rs762953605 CA217724449	788	R>S		No	ClinGen Ensembl
CA379693020 rs1222537188	789	S>I		No	ClinGen gnomAD
rs1306802026 CA379693028	790	N>S		No	ClinGen gnomAD
CA379693054 rs1329324637	792	V>L		No	ClinGen TOPMed
rs1322839653 CA379693066	794	V>I		No	ClinGen TOPMed
rs766937290 CA5888235	797	S>F		No	ClinGen ExAC gnomAD
rs1475032599 CA379693093	798	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA379693135 rs1416096405	803	Q>H		No	ClinGen gnomAD
rs751639052 CA5888236	803	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs755120353 CA5888237	804	M>I		No	ClinGen ExAC gnomAD
rs781497285 CA5888238	805	A>T		No	ClinGen ExAC gnomAD
rs752963068 CA5888239	807	A>S		No	ClinGen ExAC gnomAD
CA379693165 rs1311484403	808	D>A		No	ClinGen gnomAD
CA5888240 rs756416567	808	D>N		No	ClinGen ExAC gnomAD
CA379693172 rs1418166987	809	S>C		No	ClinGen TOPMed
rs200754879 CA5888243	809	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200754879 CA5888242	809	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779981926 CA5888244	810	H>R		No	ClinGen ExAC TOPMed gnomAD
CA217725798 rs1000049426	810	H>Y		No	ClinGen TOPMed gnomAD
rs1213414061 CA379693197	813	K>E		No	ClinGen gnomAD
CA5888245 rs746451691	814	L>F		No	ClinGen ExAC gnomAD
CA379693212 rs1207848771	815	L>P		No	ClinGen gnomAD
CA379693224 rs761353826	817	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5888248 rs761353826	817	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs776185891 COSM180940 CA5888247	817	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA379693226 rs200742087	818	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5888250 rs773404894	818	H>R		No	ClinGen ExAC gnomAD
CA5888249 rs200742087	818	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1014467549 CA217725864	819	A>E		No	ClinGen TOPMed
rs370629300 CA217725869	822	I>V		No	ClinGen ESP TOPMed gnomAD
rs766736444 CA5888252	823	R>K		No	ClinGen ExAC gnomAD
rs772920740 CA5888253	827	L>V		No	ClinGen ExAC gnomAD
CA379693295 rs1564890471	829	P>S		No	ClinGen Ensembl
CA5888254 rs760186564	831	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1254089586 CA379693316	832	S>P		No	ClinGen gnomAD
rs767691141 CA5888255	833	P>A		No	ClinGen ExAC gnomAD
CA5888256 rs563749674	833	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5888257 rs756251222	834	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778079362 CA5888258	838	K>R		No	ClinGen ExAC gnomAD
CA379693380 rs1429582711	842	Y>C		No	ClinGen gnomAD
rs532719574 CA5888259	846	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1420645877 CA379693414	847	G>D		No	ClinGen TOPMed gnomAD
CA5888261 COSM923899 rs201581215	848	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA379693418 rs201581215	848	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA379693426 rs1382705387	849	S>A		No	ClinGen Ensembl
CA379693428 rs1348340860	849	S>C		No	ClinGen gnomAD
TCGA novel	851	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379693453 rs1359924268	853	D>A		No	ClinGen TOPMed
CA5888264 rs202084044	854	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768633782 CA5888263	854	D>H		No	ClinGen ExAC TOPMed gnomAD
CA379693468 rs1300567638	855	D>G		No	ClinGen gnomAD
rs1172346234 CA379693473	856	C>R		No	ClinGen TOPMed
rs1192313068 CA379693484	857	E>G		No	ClinGen gnomAD
rs142548073 CA5888266	857	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA217725960 rs1012161079	860	K>E		No	ClinGen TOPMed
rs774892228 CA217725984	862	P>L		No	ClinGen Ensembl
rs763157331 CA5888269	863	V>A		No	ClinGen ExAC
rs771415865 CA5888270	869	V>A		No	ClinGen ExAC gnomAD
rs1295100211 CA379693556	869	V>M		No	ClinGen TOPMed gnomAD
rs1440285321 CA379693565	870	E>G		No	ClinGen TOPMed
CA217726003 rs1003859054	871	A>T		No	ClinGen TOPMed gnomAD
rs774912620 CA5888272	872	I>L		No	ClinGen ExAC gnomAD
TCGA novel	872	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	873	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5888273 rs760098524	873	L>Q		No	ClinGen ExAC gnomAD
CA379693587 rs1438013567	874	E>K		No	ClinGen gnomAD
CA379693604 rs1324618698	876	S>N		No	ClinGen gnomAD
CA379693612 rs1371725503	877	T>N		No	ClinGen gnomAD
CA379693624 rs1219584431	879	K>E		No	ClinGen TOPMed
CA217726004 rs879824437	885	L>Q		No	ClinGen Ensembl
rs1227582412 CA379693688	888	Q>*		No	ClinGen gnomAD
CA5888275 rs775384655	889	Q>E		No	ClinGen ExAC gnomAD
rs760823051 CA5888276	891	G>R		No	ClinGen ExAC gnomAD
CA379694003 rs1211961260	892	D>G		No	ClinGen gnomAD
CA5888277 rs764157281	892	D>N		No	ClinGen ExAC gnomAD
CA379694020 rs1469335177	893	N>K		No	ClinGen gnomAD
CA379694018 rs1252443587	893	N>S		No	ClinGen gnomAD
CA379694032 rs1231562365	895	D>N		No	ClinGen gnomAD
CA5888278 rs754088525	897	S>C		No	ClinGen ExAC gnomAD
rs757482334 CA5888279	898	K>Q		No	ClinGen ExAC gnomAD
rs766144298 CA5888280	898	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	899	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	899	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	901	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590435800 CA379694110	901	E>D		No	ClinGen Ensembl
CA379694114 rs1459546015	902	T>A		No	ClinGen gnomAD
rs751400125 CA5888281	904	D>E		No	ClinGen ExAC gnomAD
TCGA novel	906	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754865328 CA5888282	906	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	906	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781126825 CA5888283	908	I>V		No	ClinGen ExAC gnomAD
CA379694197 rs1442593447	909	E>K		No	ClinGen gnomAD
CA379694216 TCGA novel rs1254470086	910	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
rs777213668 CA5888286	910	S>T		No	ClinGen ExAC gnomAD
rs1231649406 CA379694226	911	P>L		No	ClinGen gnomAD
CA5888287 rs748955027	911	P>S		No	ClinGen ExAC gnomAD
CA5888288 rs186380890	913	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371547062 CA217726151	913	N>K		No	ClinGen ESP TOPMed gnomAD
rs774824967 CA5888289	913	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379694252 rs1271435734	914	E>G		No	ClinGen gnomAD
CA5888290 rs746258213	916	D>E		No	ClinGen ExAC gnomAD
TCGA novel	920	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379694333 rs1474050113	922	D>E		No	ClinGen gnomAD
rs935638053 CA217726159	922	D>N		No	ClinGen Ensembl
rs1254379504 CA379694328	922	D>V		No	ClinGen TOPMed gnomAD
CA5888291 rs772650837	923	N>Y		No	ClinGen ExAC gnomAD
rs776071039 CA5888292	926	L>F		No	ClinGen ExAC gnomAD
CA379694387 rs1458932838	928	Q>E		No	ClinGen gnomAD
CA379694404 rs1590436008	929	H>L		No	ClinGen Ensembl
CA5888294 rs764223968	932	T>I		No	ClinGen ExAC TOPMed gnomAD
rs776626599 CA5888295	933	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs1187754974 CA379694457	934	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
rs761996359 CA5888296	934	D>N		No	ClinGen ExAC gnomAD
CA5888297 rs765479445	938	F>S		No	ClinGen ExAC gnomAD
TCGA novel	941	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379694503 rs1471646908	941	E>Q		No	ClinGen TOPMed
rs1292834511 CA379694518	943	R>G		No	ClinGen gnomAD
rs1236508359 CA379694520	943	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5888299 rs754777335	945	D>N		No	ClinGen ExAC gnomAD
CA379694537 rs1211646838	946	S>P		No	ClinGen gnomAD
rs1268488468 CA379694551	948	V>M		No	ClinGen gnomAD
CA379694562 rs1339353067	949	N>K		No	ClinGen gnomAD
rs1462508506 COSM923900 CA379694576	951	D>G	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1255841804 CA379694592	953	S>I		No	ClinGen TOPMed
CA5888301 rs752673811	954	T>I		No	ClinGen ExAC gnomAD
CA379694618 rs1484871365	957	V>A		No	ClinGen gnomAD
CA5888303 rs777314680	960	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1190476760 CA379694657	963	S>G		No	ClinGen gnomAD
CA5888304 rs748788282	963	S>R		No	ClinGen ExAC TOPMed
rs1371962198 CA379694668	964	S>F		No	ClinGen gnomAD
CA379694670 rs1475727274	965	S>G		No	ClinGen gnomAD
CA379694682 rs1170355503	966	H>L		No	ClinGen gnomAD
rs1170355503 CA379694680	966	H>P		No	ClinGen gnomAD
rs1216372744 CA379694679	966	H>Y		No	ClinGen TOPMed
CA379694695 rs1260287926	968	S>G		No	ClinGen gnomAD
rs756920957 CA5888305	971	L>F		No	ClinGen ExAC gnomAD
TCGA novel	971	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746169884 CA5888307	973	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379694741 rs1403267835	974	A>V		No	ClinGen gnomAD
TCGA novel	975	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5888308 rs772562952	975	D>G		No	ClinGen ExAC TOPMed gnomAD
CA379694746 rs772562952	975	D>V		No	ClinGen ExAC TOPMed gnomAD
rs775779099 CA5888309	976	N>D		No	ClinGen ExAC TOPMed gnomAD
CA217726280 rs1014209040	976	N>S		No	ClinGen TOPMed
CA217726300 rs377112568	979	I>N		No	ClinGen ESP TOPMed
CA379694778 rs1229831204	980	P>R		No	ClinGen gnomAD
CA217726305 rs777777982	980	P>S		No	ClinGen TOPMed
rs11022089 CA217726306	982	A>G		No	ClinGen Ensembl
rs200878221 CA5888311	983	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5888312 rs537166126	983	N>I		No	ClinGen 1000Genomes ExAC gnomAD
rs769942114 CA5888314	984	G>A		No	ClinGen ExAC gnomAD
CA5888316 rs763224788	986	D>H		No	ClinGen ExAC gnomAD
CA379694813 rs1260457084	986	D>V		No	ClinGen gnomAD
CA217726376 rs200381967	987	S>C		No	ClinGen 1000Genomes
CA5888317 rs767328067	988	H>N		No	ClinGen ExAC gnomAD
rs1181943427 CA379694824	988	H>R		No	ClinGen gnomAD
rs1251130510 CA379694837	990	I>V		No	ClinGen gnomAD
rs760629510 CA5888319	991	T>R		No	ClinGen ExAC gnomAD
rs1176575383 CA379694850	992	S>G		No	ClinGen gnomAD
CA5888320 rs763968753	992	S>N		No	ClinGen ExAC gnomAD
CA5888321 rs753340950	993	S>R		No	ClinGen ExAC gnomAD
rs1413068372 CA379694862	994	R>G		No	ClinGen gnomAD
CA379694865 rs1157006977	994	R>T		No	ClinGen gnomAD
rs756832955 CA379694879	996	T>K		No	ClinGen ExAC TOPMed gnomAD
CA5888322 rs756832955	996	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5888323 rs756832955	996	T>R		No	ClinGen ExAC TOPMed gnomAD
CA379694888 rs1435829865	998	A>S		No	ClinGen gnomAD
CA379694893 rs1322623175	998	A>V		No	ClinGen gnomAD
CA217726467 rs952128121	999	N>K		No	ClinGen TOPMed gnomAD
CA5888325 rs758175559	1001	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5888326 rs780439380	1001	G>V		No	ClinGen ExAC TOPMed gnomAD
CA5888327 rs747367915	1002	K>E		No	ClinGen ExAC gnomAD
rs1564891036 CA379694921	1003	K>E		No	ClinGen Ensembl
rs1259724448 CA379694943	1006	W>R		No	ClinGen TOPMed gnomAD
rs1329410617 CA379694956	1007	D>V		No	ClinGen gnomAD
CA5888329 rs769161878	1008	T>A		No	ClinGen ExAC TOPMed gnomAD
CA379694963 rs1250563247	1008	T>I		No	ClinGen gnomAD
rs1466150798 CA379694973	1010	E>A		No	ClinGen gnomAD
rs201961746 CA5888331 COSM686871	1011	E>D	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs984254088 CA217726506	1013	S>F		No	ClinGen TOPMed
TCGA novel	1013	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368666023 CA379695015	1016	D>G		No	ClinGen gnomAD
rs1434852405 CA379695024	1017	S>T		No	ClinGen TOPMed
rs1417017340 CA379695039	1019	Y>F		No	ClinGen gnomAD
CA217726538 rs576997560	1020	D>H		No	ClinGen 1000Genomes gnomAD
rs576997560 CA379695043	1020	D>N		No	ClinGen 1000Genomes gnomAD
rs576997560 CA217726545	1020	D>Y		No	ClinGen 1000Genomes gnomAD
CA217726552 rs914036443 CA379695055	1021	E>D		No	ClinGen TOPMed gnomAD
rs1457959376 CA379695057	1022	S>G		No	ClinGen gnomAD
CA379695056 rs1457959376	1022	S>R		No	ClinGen gnomAD
CA5888333 rs576270595	1023	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5888335 rs180875676	1025	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA217726561 rs945591789	1027	G>E		No	ClinGen Ensembl
CA379695097 rs1378063176	1028	E>K		No	ClinGen TOPMed
rs1564891125 CA379695123	1031	Y>D		No	ClinGen Ensembl
rs1306731673 CA379695132	1032	M>T		No	ClinGen gnomAD
CA5888337 rs775316636	1032	M>V		No	ClinGen ExAC TOPMed gnomAD
rs201938913 CA217726568	1033	Y>H		No	ClinGen Ensembl
rs753820819 CA5888340	1041	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1222226632 CA379695202	1042	D>G		No	ClinGen TOPMed gnomAD
CA217726581 rs1045153443	1042	D>N		No	ClinGen TOPMed
CA5888341 rs761898022	1044	G>D		No	ClinGen ExAC TOPMed gnomAD
rs545207859 CA217726601	1046	G>R		No	ClinGen Ensembl
CA379695235 rs1195075252	1047	E>A		No	ClinGen gnomAD
CA217726613 rs757780764	1048	G>R		No	ClinGen gnomAD
TCGA novel	1052	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779789525 CA5888380	1054	V>L		No	ClinGen ExAC gnomAD
CA217730160 rs779789525	1054	V>M		No	ClinGen ExAC gnomAD
CA379695518 rs1169217265	1055	H>Y		No	ClinGen gnomAD
CA5888381 rs776525102	1056	V>I		No	ClinGen ExAC gnomAD
TCGA novel	1059	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249257534 CA379695607	1063	A>E		No	ClinGen gnomAD
CA379695622 rs1215848859	1064	A>V		No	ClinGen TOPMed
TCGA novel	1066	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172205950 CA379695659	1067	Q>H		No	ClinGen gnomAD
CA5888385 rs773291662	1071	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5888386 rs763017297	1073	V>I		No	ClinGen ExAC gnomAD
CA5888387 rs765797688	1074	G>E		No	ClinGen ExAC gnomAD
CA379695727 rs1433636068	1077	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs865837208 CA379695728	1078	S>A		No	ClinGen gnomAD
rs759081017 CA5888389	1078	S>C		No	ClinGen ExAC TOPMed gnomAD
CA217730191 rs865837208	1078	S>P		No	ClinGen gnomAD
rs1590453249 CA379695734	1079	H>R		No	ClinGen Ensembl
rs767189844 CA5888390	1079	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	1080	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753011666 CA5888391	1082	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1237581807 CA379695770	1084	R>Q		No	ClinGen Ensembl
rs1371183644 CA379695777	1085	V>G		No	ClinGen TOPMed
CA5888393 rs764509081	1085	V>M		No	ClinGen ExAC gnomAD
rs1327317765 CA379695800	1089	N>H		No	ClinGen TOPMed
rs754285337 CA5888394	1089	N>S		No	ClinGen ExAC gnomAD
rs571949588 COSM923906 CA5888397	1095	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1478522724 CA379695853	1096	R>L		No	ClinGen gnomAD
rs200369947 CA5888398	1096	R>W		No	ClinGen ExAC TOPMed gnomAD
CA379695884 rs1405413427	1101	L>V		No	ClinGen gnomAD
rs769712996 CA217730255	1102	S>A		No	ClinGen ExAC gnomAD
CA5888402 rs777685769	1102	S>L		No	ClinGen ExAC gnomAD
CA5888401 rs769712996	1102	S>P		No	ClinGen ExAC gnomAD
rs1459839714 CA379695910	1105	S>C		No	ClinGen TOPMed gnomAD
CA5888403 rs749161486	1107	D>G		No	ClinGen ExAC TOPMed gnomAD
CA379695922 rs1322740833	1107	D>Y		No	ClinGen gnomAD
CA379695939 rs1438420025	1109	K>R		No	ClinGen gnomAD
CA5888426 rs770726051	1111	T>A		No	ClinGen ExAC gnomAD
TCGA novel	1112	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778923671 CA5888427	1112	I>V		No	ClinGen ExAC gnomAD
CA5888429 rs771557314	1113	R>G		No	ClinGen ExAC gnomAD
CA217730665 rs1008190534	1116	R>K		No	ClinGen TOPMed
TCGA novel	1120	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389319431 CA379696027	1121	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	1121	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5888431 rs760287937	1123	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA5888432 rs760287937	1123	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1214001325 CA379696046	1124	R>K		No	ClinGen TOPMed
CA379696065 rs1372712230	1127	V>I		No	ClinGen gnomAD
CA379696075 rs1333620682	1128	Y>C		No	ClinGen gnomAD
CA379696084 rs1341101697	1129	Q>L		No	ClinGen TOPMed gnomAD
rs1195174124 CA379696089	1130	L>F		No	ClinGen gnomAD
rs765592971 CA5888435	1131	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1342063695 CA379696107	1133	N>H		No	ClinGen gnomAD
rs200605492 CA379696109	1133	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200605492 CA5888436	1133	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5888438 rs766549377	1135	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA217731956 rs767056105	1140	F>C		No	ClinGen TOPMed
CA5888458 rs368279543	1140	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5888459 rs774526070	1145	V>L		No	ClinGen ExAC gnomAD
CA379696431 rs774526070	1145	V>M		No	ClinGen ExAC gnomAD
rs1210936731 CA379696465	1150	M>V		No	ClinGen TOPMed
rs372126731 CA379696480	1152	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA217731967 rs372126731	1152	V>L		No	ClinGen ESP TOPMed gnomAD
CA217731969 rs369914289	1153	R>Q		No	ClinGen ESP TOPMed gnomAD
rs182809869 CA5888461	1153	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA217731971 rs998419964	1154	Q>E		No	ClinGen TOPMed gnomAD
CA5888464 rs765050715	1157	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1467179581 CA379696515	1158	E>K		No	ClinGen TOPMed
CA379696529 rs1227050461	1159	L>F		No	ClinGen gnomAD
CA5888465 rs530276932	1160	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1465829197 CA379696567	1165	E>G		No	ClinGen TOPMed
CA217732012 rs369043403	1168	G>D		No	ClinGen ESP TOPMed gnomAD
rs1210257741 CA379696605	1170	E>D		No	ClinGen gnomAD
rs1269180110 CA379696614	1172	S>G		No	ClinGen gnomAD
CA5888469 rs75225371	1173	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1166025059 CA379696664	1177	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1428287716 CA379696696	1182	T>P		No	ClinGen gnomAD
rs758191249 CA5888488	1187	G>D		No	ClinGen ExAC gnomAD
rs766224629 CA5888489	1188	T>S		No	ClinGen ExAC gnomAD
CA5888490 rs369745887	1189	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA217732253 rs943019348	1189	V>F		No	ClinGen TOPMed
CA5888492 rs377420921	1191	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA379696773 rs1285978156	1193	Y>C		No	ClinGen TOPMed
rs998388861 CA217732267	1195	I>V		No	ClinGen TOPMed
rs566211922 CA217732268	1199	D>Y		No	ClinGen TOPMed gnomAD
rs755745251 CA5888494	1201	N>H		No	ClinGen ExAC gnomAD
TCGA novel	1203	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1272588243 CA379696851	1204	S>G		No	ClinGen TOPMed
rs749599332 CA5888496	1204	S>T		No	ClinGen ExAC TOPMed gnomAD
rs771417954 CA5888497	1205	N>S		No	ClinGen ExAC gnomAD
CA5888498 rs779478872	1206	W>L		No	ClinGen ExAC gnomAD
rs746354661 CA5888499	1208	V>A		No	ClinGen ExAC gnomAD
rs1448172035 CA379696893	1210	L>V		No	ClinGen gnomAD
CA379696899 rs1188386392	1211	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1302898299 CA379696910	1212	V>D		No	ClinGen TOPMed
CA5888501 rs374712169	1213	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs374712169 CA5888502	1213	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs201713726 CA5888519	1216	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5888520 rs768705358	1217	E>D		No	ClinGen ExAC gnomAD
rs1253654314 CA379696968	1219	M>I		No	ClinGen TOPMed
rs1367231867 CA379696975	1220	K>R		No	ClinGen gnomAD
rs142927096 CA5888521	1222	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1224308056 CA379696986	1222	M>V		No	ClinGen TOPMed gnomAD
rs1327087805 CA379697001	1224	Q>*		No	ClinGen gnomAD
CA217735233 rs201712450	1224	Q>L		No	ClinGen Ensembl
CA5888523 rs546825783	1226	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs566512084 CA217735249	1229	S>T		No	ClinGen 1000Genomes
TCGA novel	1230	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774149988 CA5888524	1230	R>T		No	ClinGen ExAC gnomAD
CA5888526 rs765095780	1231	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs188393396 CA5888525	1231	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752575091 CA5888527	1233	K>E		No	ClinGen ExAC gnomAD
CA379697085 rs1472012033	1237	M>T		No	ClinGen gnomAD
CA5888528 rs760752877	1238	K>M		No	ClinGen ExAC gnomAD
rs1333666040 CA379697172	1249	S>T		No	ClinGen TOPMed
CA379697186 rs1208793646	1251	S>C		No	ClinGen gnomAD
CA5888530 rs576104572	1251	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs928215014 CA217735297	1252	V>M		No	ClinGen TOPMed gnomAD
rs752493697 CA5888532	1254	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758682762 CA5888535	1256	R>P		No	ClinGen ExAC TOPMed gnomAD
rs758682762 CA5888534	1256	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs567250524 CA217736855	1259	L>F		No	ClinGen 1000Genomes
rs1001861068 CA217736878	1264	G>V		No	ClinGen TOPMed gnomAD
CA5888553 rs750026951	1267	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1028105772 CA217736897	1269	D>A		No	ClinGen TOPMed gnomAD
rs1028105772 CA379697691	1269	D>G		No	ClinGen TOPMed gnomAD
CA5888554 rs202075986	1270	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1274508442 CA379697696	1270	I>V		No	ClinGen gnomAD
rs1483093865 CA379697723	1274	K>Q		No	ClinGen TOPMed
CA379697743 rs1252765692	1275	G>S		No	ClinGen gnomAD
CA379697749 rs1199424072	1276	R>G		No	ClinGen gnomAD
rs1263190773 CA379697763	1278	T>A		No	ClinGen gnomAD
CA5888563 rs777967087	1280	P>S		No	ClinGen ExAC gnomAD
CA5888565 rs771225503	1287	D>A		No	ClinGen ExAC TOPMed gnomAD
CA217737013 rs771225503	1287	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1299914001 CA379697833	1288	I>S		No	ClinGen TOPMed
CA379697837 rs1375042113	1289	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA379697849 rs7933089	1290	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs930868552 CA217737021	1296	P>A		No	ClinGen TOPMed
CA379697898 rs1218166130	1297	K>E		No	ClinGen gnomAD
CA379697902 rs1425913555	1297	K>N		No	ClinGen TOPMed
rs746812221 CA5888567	1299	S>F		No	ClinGen ExAC gnomAD
TCGA novel	1299	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776704721 CA5888569	1303	V>I		No	ClinGen ExAC gnomAD
rs761896058 CA5888570	1306	L>F		No	ClinGen ExAC gnomAD
CA5888571 rs764627105	1307	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs772816924 CA5888572	1309	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1349980169 CA379697984	1310	D>G		No	ClinGen gnomAD
TCGA novel	1312	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766080625 COSM264620 CA5888574	1313	A>V	Variant assessed as Somatic; 4.646e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA217737060 rs199752763	1315	I>T		No	ClinGen TOPMed gnomAD
CA379698014 rs1324981320	1315	I>V		No	ClinGen gnomAD
CA379698019 rs1267491923	1316	F>L		No	ClinGen gnomAD
rs1424494790 CA379698074	1321	T>R		No	ClinGen gnomAD
rs761047419 CA5888598	1324	L>I		No	ClinGen ExAC TOPMed gnomAD
rs764672918 CA5888599	1325	M>V		No	ClinGen ExAC gnomAD
rs1373340805 CA379698118	1327	L>S		No	ClinGen gnomAD
rs544010217 CA217738075	1329	D>N		No	ClinGen gnomAD
CA5888601 rs757353993	1330	E>K		No	ClinGen ExAC gnomAD
CA217738078 rs942528349	1333	N>H		No	ClinGen Ensembl
CA5888602 rs779191640	1334	E>D		No	ClinGen ExAC gnomAD
rs1246487517 CA379698213	1335	L>V		No	ClinGen gnomAD
CA379698230 rs1306205043	1336	M>T		No	ClinGen TOPMed
rs368665066 CA5888604	1340	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250838306 CA379698285	1340	S>R		No	ClinGen TOPMed gnomAD
rs1480968727 CA379698290	1341	S>G		No	ClinGen gnomAD
rs781090882 CA5888605	1342	R>*		No	ClinGen ExAC gnomAD
CA379698302 rs781090882	1342	R>G		No	ClinGen ExAC gnomAD
rs747994208 CA5888606	1342	R>L		No	ClinGen ExAC gnomAD
TCGA novel	1344	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777773737 CA5888608	1348	H>R		No	ClinGen ExAC gnomAD
rs1184615765 CA379698390	1348	H>Y		No	ClinGen gnomAD
rs371170010 CA5888609	1349	R>C	Variant assessed as Somatic; 4.654e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs773900527 COSM428548 CA217738127	1349	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs773900527 CA5888611	1349	R>L		No	ClinGen ExAC TOPMed gnomAD
rs371170010 CA5888610	1349	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1354736329 CA379698438	1351	T>A		No	ClinGen gnomAD
CA5888613 rs374782538	1355	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs374782538 CA5888614	1355	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA217738145 rs772005566	1355	R>H		No	ClinGen TOPMed gnomAD
rs200920023 CA217738146	1357	E>Q		No	ClinGen 1000Genomes
CA379698566 rs1453231155	1359	A>T		No	ClinGen gnomAD
rs1226484772 CA379698630	1362	I>M		No	ClinGen TOPMed gnomAD
rs773592365 CA379698645	1363	Y>*		No	ClinGen TOPMed
CA379698643 rs1308297732	1363	Y>F		No	ClinGen gnomAD
rs371651670 CA5888617	1363	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs762275569 CA5888618	1365	D>V		No	ClinGen ExAC gnomAD
rs1000201407 CA217738206	1369	N>Y		No	ClinGen TOPMed
rs1590477693 CA379698751	1371	D>N		No	ClinGen Ensembl
rs1298647133 CA379698793	1373	T>I		No	ClinGen Ensembl
CA379698801 rs1564898558	1374	Q>*		No	ClinGen Ensembl
CA379698822 rs1348510277	1375	D>G		No	ClinGen TOPMed
rs750558730 CA5888620	1376	D>G		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q96K76

3 regional properties for Q96K76

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	68 - 330	IPR000719
active_site	Serine/threonine-protein kinase, active site	192 - 204	IPR008271
binding_site	Protein kinase, ATP binding site	74 - 97	IPR017441

Functions

		Description
EC Number	3.4.19.12	Omega peptidases
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
SCF ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1).

4 GO annotations of molecular function

Name	Definition
cysteine-type deubiquitinase activity	An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.
cysteine-type endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile.
deubiquitinase activity	An isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.
WD40-repeat domain binding	Binding to a WD40 repeat domain of a protein. The WD40 repeat is a short structural motif of approximately 40 amino acids, often terminating in a tryptophan-aspartic acid (W-D) dipeptide. Several of these repeats are combined to form a type of protein domain called the WD domain.

16 GO annotations of biological process

Name	Definition
base-excision repair	In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase.
cellular response to DNA damage 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 a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
cellular response to UV	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 ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
intrinsic apoptotic signaling pathway in response to DNA damage	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
monoubiquitinated protein deubiquitination	The removal of the ubiquitin group from a monoubiquitinated protein.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of a cysteine-type endopeptidase activity involved in the apoptotic process.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of G2/M transition of mitotic cell cycle	Any signalling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the mitotic cell cycle.
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway in response to DNA damage.
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of cell growth	Any process that activates or increases the frequency, rate, extent or direction of cell growth.
protein deubiquitination	The removal of one or more ubiquitin groups from a protein.
regulation of protein stability	Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9UHP3	USP25	Ubiquitin carboxyl-terminal hydrolase 25	Homo sapiens (Human)	EV
Q93009	USP7	Ubiquitin carboxyl-terminal hydrolase 7	Homo sapiens (Human)	PR
Q92995	USP13	Ubiquitin carboxyl-terminal hydrolase 13	Homo sapiens (Human)	PR
P45974	USP5	Ubiquitin carboxyl-terminal hydrolase 5	Homo sapiens (Human)	PR

10	20	30	40	50	60
MVPGEENQLV	PKEDVFWRCR	QNIFDEMKKK	FLQIENAAEE	PRVLCIIQDT	TNSKTVNERI
70	80	90	100	110	120
TLNLPASTPV	RKLFEDVANK	VGYINGTFDL	VWGNGINTAD	MAPLDHTSDK	SLLDANFEPG
130	140	150	160	170	180
KKNFLHLTDK	DGEQPQILLE	DSSAGEDSVH	DRFIGPLPRE	GSGGSTSDYV	SQSYSYSSIL
190	200	210	220	230	240
NKSETGYVGL	VNQAMTCYLN	SLLQTLFMTP	EFRNALYKWE	FEESEEDPVT	SIPYQLQRLF
250	260	270	280	290	300
VLLQTSKKRA	IETTDVTRSF	GWDSSEAWQQ	HDVQELCRVM	FDALEQKWKQ	TEQADLINEL
310	320	330	340	350	360
YQGKLKDYVR	CLECGYEGWR	IDTYLDIPLV	IRPYGSSQAF	ASVEEALHAF	IQPEILDGPN
370	380	390	400	410	420
QYFCERCKKK	CDARKGLRFL	HFPYLLTLQL	KRFDFDYTTM	HRIKLNDRMT	FPEELDMSTF
430	440	450	460	470	480
IDVEDEKSPQ	TESCTDSGAE	NEGSCHSDQM	SNDFSNDDGV	DEGICLETNS	GTEKISKSGL
490	500	510	520	530	540
EKNSLIYELF	SVMVHSGSAA	GGHYYACIKS	FSDEQWYSFN	DQHVSRITQE	DIKKTHGGSS
550	560	570	580	590	600
GSRGYYSSAF	ASSTNAYMLI	YRLKDPARNA	KFLEVDEYPE	HIKNLVQKER	ELEEQEKRQR
610	620	630	640	650	660
EIERNTCKIK	LFCLHPTKQV	MMENKLEVHK	DKTLKEAVEM	AYKMMDLEEV	IPLDCCRLVK
670	680	690	700	710	720
YDEFHDYLER	SYEGEEDTPM	GLLLGGVKST	YMFDLLLETR	KPDQVFQSYK	PGEVMVKVHV
730	740	750	760	770	780
VDLKAESVAA	PITVRAYLNQ	TVTEFKQLIS	KAIHLPAETM	RIVLERCYND	LRLLSVSSKT
790	800	810	820	830	840
LKAEGFFRSN	KVFVESSETL	DYQMAFADSH	LWKLLDRHAN	TIRLFVLLPE	QSPVSYSKRT
850	860	870	880	890	900
AYQKAGGDSG	NVDDDCERVK	GPVGSLKSVE	AILEESTEKL	KSLSLQQQQD	GDNGDSSKST
910	920	930	940	950	960
ETSDFENIES	PLNERDSSAS	VDNRELEQHI	QTSDPENFQS	EERSDSDVNN	DRSTSSVDSD
970	980	990	1000	1010	1020
ILSSSHSSDT	LCNADNAQIP	LANGLDSHSI	TSSRRTKANE	GKKETWDTAE	EDSGTDSEYD
1030	1040	1050	1060	1070	1080
ESGKSRGEMQ	YMYFKAEPYA	ADEGSGEGHK	WLMVHVDKRI	TLAAFKQHLE	PFVGVLSSHF
1090	1100	1110	1120	1130	1140
KVFRVYASNQ	EFESVRLNET	LSSFSDDNKI	TIRLGRALKK	GEYRVKVYQL	LVNEQEPCKF
1150	1160	1170	1180	1190	1200
LLDAVFAKGM	TVRQSKEELI	PQLREQCGLE	LSIDRFRLRK	KTWKNPGTVF	LDYHIYEEDI
1210	1220	1230	1240	1250	1260
NISSNWEVFL	EVLDGVEKMK	SMSQLAVLSR	RWKPSEMKLD	PFQEVVLESS	SVDELREKLS
1270	1280	1290	1300	1310	1320
EISGIPLDDI	EFAKGRGTFP	CDISVLDIHQ	DLDWNPKVST	LNVWPLYICD	DGAVIFYRDK
1330	1340	1350	1360	1370
TEELMELTDE	QRNELMKKES	SRLQKTGHRV	TYSPRKEKAL	KIYLDGAPNK	DLTQD