AiPD: Autoinhibited Protein Database

Q7Z3E2

Gene name	CCDC186 (C10orf118)
Protein name	Coiled-coil domain-containing protein 186
Names	CTCL tumor antigen HD-CL-01/L14-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55088
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

690-762 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

690-762 (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 Q7Z3E2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7Z3E2-F1	Predicted				AlphaFoldDB

579 variants for Q7Z3E2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA214509871 rs1013133028	4	T>A		No	ClinGen Ensembl
CA5699090 rs759686997	4	T>I		No	ClinGen ExAC gnomAD
rs759686997 CA5699091	4	T>R		No	ClinGen ExAC gnomAD
rs771048463 CA378452835	7	I>M		No	ClinGen ExAC gnomAD
rs894305425 CA214509865	7	I>V		No	ClinGen Ensembl
CA378452756 rs1476094086	10	T>A		No	ClinGen gnomAD
CA5699087 rs760715178	11	S>C		No	ClinGen ExAC gnomAD
CA378452660 rs1483696904	13	D>E		No	ClinGen gnomAD
rs748562313 CA5699084	21	E>D		No	ClinGen ExAC gnomAD
rs183237964 CA5699083	22	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5699082 rs769142372	23	K>E		No	ClinGen ExAC gnomAD
CA378452312 rs1564918608	24	E>K		No	ClinGen Ensembl
rs1246545838 CA378452142	27	C>F		No	ClinGen gnomAD
CA378452061 rs1311446700	30	F>L		No	ClinGen gnomAD
rs779826914 CA378452000	31	S>C		No	ClinGen ExAC TOPMed gnomAD
rs779826914 CA5699080	31	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs140899994 CA5699079	32	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs977261664 CA214509835	33	N>S		No	ClinGen TOPMed gnomAD
CA5699078 rs749857508	35	S>N		No	ClinGen ExAC gnomAD
rs571843230 CA5699077	36	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1164739287 CA378451782	38	L>V		No	ClinGen gnomAD
CA378451676 rs1459659925	41	E>K		No	ClinGen gnomAD
CA5699076 rs757082958	42	S>Y		No	ClinGen ExAC gnomAD
CA5699075 rs202144647	44	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs763942683 CA5699074	45	L>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	51	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5699071 rs766549960	52	T>I		No	ClinGen ExAC gnomAD
rs754100177 CA5699072	52	T>P		No	ClinGen ExAC
rs773110072 CA378451256	55	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs530868710 CA214509813	56	P>S		No	ClinGen Ensembl
rs377016510 CA5699068	59	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762298044 CA5699067	60	N>D		No	ClinGen ExAC gnomAD
CA5699066 rs774913425	62	R>G		No	ClinGen ExAC gnomAD
rs532080412 CA378451111	62	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532080412 CA5699065	62	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1461623638 CA378451058	65	A>G		No	ClinGen TOPMed
CA378451039 rs1285832292	66	Q>R		No	ClinGen gnomAD
CA214509798 rs763456854	67	E>K		No	ClinGen TOPMed gnomAD
rs1331559891 CA378450932	71	P>A		No	ClinGen gnomAD
rs1325337142 CA378450916	71	P>L		No	ClinGen gnomAD
CA378450864 rs1589631679	73	H>Q		No	ClinGen Ensembl
CA378450871 rs1388934270	73	H>R		No	ClinGen gnomAD
CA378450809 rs775309877	76	G>D		No	ClinGen ExAC TOPMed gnomAD
rs749635198 CA5699064	76	G>S		No	ClinGen ExAC gnomAD
CA5699063 rs775309877	76	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1156988222 CA378450740	79	S>C		No	ClinGen gnomAD
CA378450698 rs1470098130	81	A>V		No	ClinGen gnomAD
CA5699061 rs567948747	83	T>R		No	ClinGen 1000Genomes ExAC gnomAD
VAR_023047 rs1061159 CA5699059	85	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1061159 CA5699060	85	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5699058 rs746977221	87	S>L		No	ClinGen ExAC gnomAD
rs915408167 CA214509778	89	N>H		No	ClinGen Ensembl
rs777656159 CA5699057	93	I>T		No	ClinGen ExAC gnomAD
CA214509770 rs199900361	97	P>R		No	ClinGen 1000Genomes
CA378450399 rs1226695954	97	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs374294180 CA214509765	98	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs374294180 CA5699056	98	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	100	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	101	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs560390918 CA5699055	102	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766599230 CA5699054	103	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1345683761 CA378450296	104	H>R		No	ClinGen gnomAD
rs750649931 CA5699052	106	S>L		No	ClinGen ExAC gnomAD
rs544220874 CA5699051	107	K>E		No	ClinGen ExAC gnomAD
rs1027007096 CA214509753	108	T>A		No	ClinGen TOPMed
rs370333890 CA5699050	109	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA378450109 rs1318682146	115	V>E		No	ClinGen gnomAD
rs775041635 CA5699049	115	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5699047 rs763436490	118	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5699046 rs775941338	119	L>F		No	ClinGen ExAC gnomAD
rs769576289 CA5699045	120	V>M		No	ClinGen ExAC TOPMed gnomAD
rs745575511 CA5699044	121	E>Q		No	ClinGen ExAC gnomAD
CA378450001 rs1166577949	123	R>K		No	ClinGen TOPMed
rs141201617 CA5699042	126	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA378449932 rs1466013157	128	P>A		No	ClinGen TOPMed gnomAD
rs1466013157 CA378449929	128	P>S		No	ClinGen TOPMed gnomAD
rs1245786275 CA378449920	129	E>K		No	ClinGen gnomAD
CA5699040 rs147799223	131	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA214509728 rs147799223	131	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5699039 rs777709243	132	N>D		No	ClinGen ExAC gnomAD
CA5699036 rs778744440	134	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs144346573 CA5699038	134	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1228674731 CA378449828	135	T>A		No	ClinGen TOPMed
rs1298095726 CA378449820	135	T>I		No	ClinGen gnomAD
rs1253434084 CA378449808	136	Y>C		No	ClinGen TOPMed
rs1204989103 CA378449767	139	S>C		No	ClinGen TOPMed
rs149190193 CA5699034	139	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751643342 CA5699031	141	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5699033 rs145366675	141	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5699032 rs751643342	141	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs764714029 CA5699030	143	T>A		No	ClinGen ExAC gnomAD
CA5699029 rs763489560	144	D>E		No	ClinGen ExAC
rs1413288979 COSM537294 CA378449644	147	K>N	lung large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1564918323 CA378449651	147	K>R		No	ClinGen Ensembl
CA5699027 rs765578845	149	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5699026 rs139418808	149	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1427748194 CA378449593	150	I>M		No	ClinGen TOPMed
rs989531114 CA214509697	152	K>E		No	ClinGen TOPMed
rs1589631463 CA378449569	152	K>R		No	ClinGen Ensembl
CA214509694 rs994643573	154	K>T		No	ClinGen TOPMed
CA378449537 rs149307478	155	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5699024 rs770567236	156	V>I		No	ClinGen ExAC TOPMed gnomAD
CA378449535 rs770567236	156	V>L		No	ClinGen ExAC TOPMed gnomAD
CA214509687 rs879313007	157	S>L		No	ClinGen gnomAD
rs760115490 CA5699023	158	A>V		No	ClinGen ExAC gnomAD
CA378449516 rs1378792713	159	S>L		No	ClinGen TOPMed
CA214509684 rs879930129	159	S>P		No	ClinGen Ensembl
CA214509681 rs112676839	160	E>A		No	ClinGen Ensembl
CA378449502 rs1564918255	161	D>E		No	ClinGen Ensembl
TCGA novel	163	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	163	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	164	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5699022 rs772641510	164	E>K		No	ClinGen ExAC gnomAD
rs944337275 CA214509675	165	E>K		No	ClinGen TOPMed gnomAD
rs762364722 CA5699021	166	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	167	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1339816760 CA378449416	169	E>V		No	ClinGen gnomAD
CA214509669 rs1033657055	170	L>P		No	ClinGen TOPMed
rs781294695 CA5699016	171	L>F		No	ClinGen ExAC gnomAD
CA5699019 rs778795783	171	L>I		No	ClinGen ExAC gnomAD
rs768379757 CA5699018	171	L>S		No	ClinGen ExAC gnomAD
CA378449392 rs778795783	171	L>V		No	ClinGen ExAC gnomAD
rs911553536 CA214509658	172	S>C		No	ClinGen gnomAD
CA378449364 rs911553536	172	S>F		No	ClinGen gnomAD
rs757445974 CA5699015	172	S>P		No	ClinGen ExAC gnomAD
CA5699014 rs751696290	173	T>A		No	ClinGen ExAC TOPMed gnomAD
rs201481328 CA5699013 COSM915002	173	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA378449258 rs1170142571	176	A>T		No	ClinGen gnomAD
CA5699011 rs143591180	178	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765734254 CA5699010	179	R>*		No	ClinGen ExAC gnomAD
VAR_023048 rs12782946 CA5699008	179	R>Q		No	ClinGen UniProt 1000Genomes ESP TOPMed dbSNP gnomAD
CA378449032 rs1482764427	182	N>T		No	ClinGen TOPMed
TCGA novel	184	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474584288 CA378448974	184	M>V		No	ClinGen gnomAD
rs1251831450 CA378448920	185	N>S		No	ClinGen gnomAD
TCGA novel	185	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1205288613 CA378448860	187	G>E		No	ClinGen TOPMed
rs1294301929 CA378448845	188	E>*		No	ClinGen Ensembl
rs1294301929 CA378448853	188	E>K		No	ClinGen Ensembl
rs759839670 CA5699007	190	A>T		No	ClinGen ExAC gnomAD
rs1187659180 CA378448659	194	F>S		No	ClinGen TOPMed
CA214509628 rs924158253	196	K>N		No	ClinGen TOPMed gnomAD
CA378448494 rs754172071	198	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5699006 rs754172071	198	V>E		No	ClinGen ExAC TOPMed gnomAD
CA378448517 rs1395662462	198	V>M		No	ClinGen TOPMed
CA5699005 rs765950546	201	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1322594404 CA378448223	205	Q>R		No	ClinGen gnomAD
CA378448177 rs1354688326	206	E>D		No	ClinGen Ensembl
CA378448154 rs1292287662	207	H>R		No	ClinGen gnomAD
CA5699002 rs183784101	208	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377384670 CA5699003	208	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5699000 rs774191460	209	I>T		No	ClinGen ExAC gnomAD
rs567960986 CA5698998	210	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5698980 rs758704331	213	I>L		No	ClinGen ExAC TOPMed gnomAD
CA378444710 rs758704331	213	I>V		No	ClinGen ExAC TOPMed gnomAD
CA214508045 rs376649843	218	K>R		No	ClinGen ESP TOPMed
CA378444478 rs1589627719	219	H>L		No	ClinGen Ensembl
CA378444495 rs1332642189	219	H>Y		No	ClinGen TOPMed
CA378444425 rs1564916024	220	Q>L		No	ClinGen Ensembl
rs1468233386 CA378444254	224	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763015249 CA5698976	224	V>I	Variant assessed as Somatic; 9.542e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763015249 CA5698977	224	V>L		No	ClinGen ExAC TOPMed gnomAD
CA378444196 rs1248853834	226	I>V		No	ClinGen gnomAD
rs200269817 CA5698975	228	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1260163424 CA378443986	230	K>E		No	ClinGen gnomAD
rs1211470069 CA378443944	231	D>G		No	ClinGen gnomAD
TCGA novel	231	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5698973 rs777348605	232	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378443726 rs1334853564	236	E>D		No	ClinGen TOPMed
CA5698972 rs111382951	236	E>G		No	ClinGen ExAC gnomAD
CA378443766 rs1233995820	236	E>K		No	ClinGen gnomAD
rs772362122 CA5698971	239	K>N		No	ClinGen ExAC TOPMed gnomAD
rs779113682 CA5698969	241	T>I		No	ClinGen ExAC TOPMed gnomAD
CA378443552 rs779113682	241	T>R		No	ClinGen ExAC TOPMed gnomAD
CA5698970 rs748179330	241	T>S		No	ClinGen ExAC gnomAD
rs1467549823 CA378443420	246	Q>E		No	ClinGen gnomAD
CA214508023 rs200818122	249	N>D		No	ClinGen Ensembl
TCGA novel	250	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759642671	251	I>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA378443259 rs1172829537	251	I>V		No	ClinGen gnomAD
rs780390188 CA5698965	253	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	254	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA214506295 rs555583896	257	R>G		No	ClinGen TOPMed
rs781606835 CA5698945	258	I>M		No	ClinGen ExAC gnomAD
CA214506293 rs369242650	258	I>T		No	ClinGen ESP TOPMed gnomAD
rs757606571 CA5698944	259	E>A		No	ClinGen ExAC gnomAD
CA5698943 rs751276065	262	N>T		No	ClinGen ExAC gnomAD
rs1246429702 CA378439113	263	K>I		No	ClinGen gnomAD
TCGA novel	264	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1332032384 CA378439069	264	E>V		No	ClinGen gnomAD
CA378439056 rs1589623063	265	V>I		No	ClinGen Ensembl
rs376011650 CA5698941	269	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs7095762 CA5698940 VAR_023049	271	Q>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378438765 rs1390592494	275	Q>R		No	ClinGen gnomAD
rs752090616 CA5698939	276	D>N		No	ClinGen ExAC gnomAD
rs759611860 CA5698937	277	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378438693 rs1415799064	278	T>I		No	ClinGen gnomAD
CA5698936 rs753812416	281	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1242607761 CA378438514	285	Q>R		No	ClinGen TOPMed
CA378438458 rs1473227431	287	H>L		No	ClinGen gnomAD
rs1476322533 CA378438418	289	E>K		No	ClinGen TOPMed
rs887828888 CA214506276	290	M>I		No	ClinGen Ensembl
CA214506274 rs1026394270	292	Q>*		No	ClinGen Ensembl
CA5698934 rs760354548	292	Q>R		No	ClinGen ExAC
CA5698931 COSM915001 rs768708509	293	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5698932 rs774660363	293	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5698930 rs763110732	294	M>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	296	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268408597 CA378438235	296	Q>R		No	ClinGen gnomAD
rs764385466 CA5698908	298	N>D		No	ClinGen ExAC gnomAD
CA214504290 rs931006245	298	N>I		No	ClinGen TOPMed
rs1589618423 CA378436450	298	N>K		No	ClinGen Ensembl
rs1231773590 CA378436440	299	K>R		No	ClinGen gnomAD
rs763154817 CA5698907	301	C>Y		No	ClinGen ExAC gnomAD
rs1450618793 CA378436402	302	E>K		No	ClinGen TOPMed
rs1564911330 COSM330735 CA378436370	304	A>S	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM915000 rs1302942210 CA378436364	305	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5698906 rs144074954	305	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378436363 rs144074954	305	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5698905 rs765352110	306	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	309	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5698903 rs777153939	310	A>T		No	ClinGen ExAC gnomAD
CA5698901 rs535217998	313	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs372192215 CA5698900	314	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA378436187 rs1476162134	317	R>S		No	ClinGen gnomAD
rs964013478 CA214504272	321	E>G		No	ClinGen TOPMed
rs1191806525 CA378436138	321	E>K		No	ClinGen TOPMed gnomAD
CA214504266 rs1005735947	325	L>F		No	ClinGen Ensembl
rs1258345153 CA378436067	326	R>*		No	ClinGen TOPMed
rs1461006543 CA378436065	326	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs367843443 CA5698895	327	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1235915571 CA378435991	331	T>A		No	ClinGen gnomAD
CA5698893 rs755942104	332	L>V		No	ClinGen ExAC
CA5698890 rs138219560	337	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs752958515 CA214504254	338	D>H		No	ClinGen ExAC gnomAD
CA5698889 rs752958515	338	D>N		No	ClinGen ExAC gnomAD
CA378435902 rs1268545213	339	A>G		No	ClinGen gnomAD
TCGA novel	339	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416863841 CA378435862	344	E>D		No	ClinGen TOPMed
CA378435865 rs1341663183	344	E>G		No	ClinGen gnomAD
CA214504252 rs191843101	346	N>D		No	ClinGen 1000Genomes
CA214504249 rs1031758593	346	N>S		No	ClinGen TOPMed
CA5698887 rs759635671	347	T>I		No	ClinGen ExAC gnomAD
rs146919177 CA5698885	348	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs552859699 CA5698884	355	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1411342823 CA378435776	357	K>E		No	ClinGen gnomAD
CA378435765 rs1416921118	358	G>E		No	ClinGen gnomAD
CA5698881 rs371736801	359	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5698882 rs772361285	359	R>W		No	ClinGen ExAC TOPMed gnomAD
CA214504225 rs368118010	361	H>Y		No	ClinGen ESP TOPMed
rs745527255 CA5698878	364	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1309550782 CA378434729	367	K>E		No	ClinGen gnomAD
CA214503837 rs533991073	370	E>D		No	ClinGen TOPMed gnomAD
rs775187807 CA5698858	370	E>K		No	ClinGen ExAC TOPMed gnomAD
rs765598207 CA5698857	371	T>A		No	ClinGen ExAC TOPMed gnomAD
rs745343803 CA5698856	371	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1396178511 CA378434517	372	T>S		No	ClinGen gnomAD
rs566544655 CA214503826	374	L>H		No	ClinGen Ensembl
rs770799116 CA5698854	375	I>V		No	ClinGen ExAC TOPMed gnomAD
CA378434363 rs1280015929 COSM1188057	378	I>M	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA378434370 rs1388647191	378	I>T		No	ClinGen gnomAD
rs777601034 CA5698852	379	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5698853 rs746813140	379	D>V		No	ClinGen ExAC gnomAD
TCGA novel	380	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5698851 rs758164785	385	I>S		No	ClinGen ExAC TOPMed gnomAD
rs116220761 CA5698850	388	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5698848 rs201374071	389	V>I	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs377167730 CA214503805	390	I>M		No	ClinGen Ensembl
rs750455162 CA5698847	391	K>*		No	ClinGen ExAC gnomAD
rs768139576 CA5698846	391	K>R		No	ClinGen ExAC TOPMed gnomAD
rs368205382 CA378434053	395	A>G		No	ClinGen ESP TOPMed
rs1218580497 CA378434063	395	A>T		No	ClinGen gnomAD
rs368205382 CA214503794	395	A>V		No	ClinGen ESP TOPMed
CA5698845 rs762474216	397	N>K		No	ClinGen ExAC gnomAD
CA378433955 rs1306782041	399	L>S		No	ClinGen gnomAD
rs1408430268 CA378433910	401	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1314650025 CA378433881	403	M>T		No	ClinGen TOPMed
CA5698843 rs764603978	403	M>V		No	ClinGen ExAC gnomAD
rs763349289 CA5698842	405	S>L		No	ClinGen ExAC TOPMed gnomAD
CA378433819 rs1293848295	406	H>L		No	ClinGen TOPMed
CA378433826 rs1385080930	406	H>Y		No	ClinGen gnomAD
rs1387667001 CA378433811	407	K>E		No	ClinGen gnomAD
CA214503773 rs914804217	407	K>M		No	ClinGen TOPMed
CA378433807 rs914804217	407	K>R		No	ClinGen TOPMed
rs773153999 CA5698815	411	D>V		No	ClinGen ExAC gnomAD
CA5698814 rs771935548	417	T>A		No	ClinGen ExAC gnomAD
CA5698811 rs768320158	424	K>R		No	ClinGen ExAC gnomAD
rs768320158 CA378453856	424	K>T		No	ClinGen ExAC gnomAD
rs1339731325 CA378453850	425	E>K		No	ClinGen gnomAD
CA378453820 rs1252695935	427	A>E		No	ClinGen TOPMed gnomAD
CA378453805 rs1224702505	428	D>E		No	ClinGen gnomAD
rs1452489166 CA378453815	428	D>N		No	ClinGen TOPMed
CA378453802 rs1554925963	429	Q>K		No	ClinGen Ensembl
rs1319397745 CA378453782	430	I>K		No	ClinGen gnomAD
CA5698809 rs781536227	431	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781536227 CA5698810	431	R>G		No	ClinGen ExAC gnomAD
COSM1238332 rs757447418 CA5698808	431	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	433	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5698807 rs747040967	433	N>T		No	ClinGen ExAC gnomAD
rs1353447049 CA378453702	437	M>V		No	ClinGen gnomAD
rs1398283418 CA378453612	442	Q>H		No	ClinGen gnomAD
rs754143157 CA5698782	443	E>D		No	ClinGen ExAC gnomAD
rs1205682825 CA378453456	444	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1258795177 CA378453412	447	I>V		No	ClinGen gnomAD
rs1481286128 CA378453033	452	L>P		No	ClinGen gnomAD
CA378453017 rs267602370	453	D>H		No	ClinGen gnomAD
CA214504274 rs267602370	453	D>N		No	ClinGen gnomAD
CA5698779 rs750060913	456	L>F		No	ClinGen ExAC gnomAD
rs201189333 CA214504269	460	K>E		No	ClinGen gnomAD
rs1387745098 CA378452842	460	K>T		No	ClinGen gnomAD
CA5698776 rs751549700	463	L>F		No	ClinGen ExAC
CA378452680 rs1157248156	463	L>R		No	ClinGen TOPMed gnomAD
CA378452587 rs1419473942	466	Q>*		No	ClinGen gnomAD
rs376516572 CA214504267	467	M>L		No	ClinGen ESP TOPMed
rs547094396 CA5698775	472	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs775358883 CA5698773	474	L>Q		No	ClinGen ExAC gnomAD
rs762859072 CA5698774	474	L>V		No	ClinGen ExAC gnomAD
CA5698772 rs769709263	475	E>K		No	ClinGen ExAC gnomAD
CA378452189 rs761956335	477	H>D		No	ClinGen ExAC TOPMed gnomAD
rs969160204 CA214504219	477	H>P		No	ClinGen TOPMed
CA5698748 rs761956335	477	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA378452082 rs1276343339	481	I>V		No	ClinGen gnomAD
TCGA novel	486	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA214504212 rs958937227	487	L>V		No	ClinGen Ensembl
rs1276138231 CA378451910	488	K>R		No	ClinGen TOPMed
CA378451851 rs1358880490	490	T>I		No	ClinGen gnomAD
CA5698745 rs749839975	491	F>C		No	ClinGen ExAC gnomAD
rs768719686 CA214504209	491	F>L		No	ClinGen Ensembl
rs1564907350 CA378451758	494	G>S		No	ClinGen Ensembl
CA214504207 rs780505415	495	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5698744 rs780505415	495	M>V		No	ClinGen ExAC TOPMed gnomAD
CA378451693 rs1203992475	496	D>E		No	ClinGen TOPMed
TCGA novel	497	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378451665 rs369712545	497	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs746172593 CA5698742	498	L>S		No	ClinGen ExAC gnomAD
rs1475522455 CA378451607	500	T>A		No	ClinGen gnomAD
rs1419920529 CA378451591 COSM914996	500	T>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1236576268 CA378450145	506	K>E		No	ClinGen gnomAD
CA5698725 rs143940246	507	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1220041836 CA378450102	509	E>Q		No	ClinGen gnomAD
CA5698723 rs746252714	510	D>H		No	ClinGen ExAC gnomAD
CA5698722 rs776927562	512	R>*		No	ClinGen ExAC TOPMed gnomAD
rs771315076 CA5698721	512	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs930404180 CA214503947	514	R>S		No	ClinGen TOPMed
TCGA novel	516	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758001809 CA378449991	518	E>*		No	ClinGen ExAC TOPMed gnomAD
rs758001809 CA214503941	518	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5698718 rs758001809	518	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1457391829 CA378449940	522	Y>H		No	ClinGen gnomAD
CA378449921 rs1345704422	523	K>R		No	ClinGen gnomAD
rs778997611 CA5698716	524	E>K		No	ClinGen ExAC gnomAD
CA214503934 rs974475657	526	I>L		No	ClinGen TOPMed
rs754936371 CA5698715	527	N>Y		No	ClinGen ExAC gnomAD
rs267602369 CA214503929	528	R>C		No	ClinGen gnomAD
rs369799974 CA5698714	528	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs369799974 CA378449859	528	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA378449866 rs267602369	528	R>S		No	ClinGen gnomAD
CA5698713 rs200549645	531	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA214503923 rs111405760	532	E>G		No	ClinGen Ensembl
CA214503919 rs1020660400	534	Q>H		No	ClinGen TOPMed
CA378449794 rs1255003250	534	Q>K		No	ClinGen gnomAD
rs755903638 CA5698712	534	Q>R		No	ClinGen ExAC gnomAD
CA214503917 rs1013916724	535	N>S		No	ClinGen gnomAD
CA5698710 rs764253855	537	L>S		No	ClinGen ExAC TOPMed gnomAD
rs763037043 CA5698709	538	D>G		No	ClinGen ExAC gnomAD
CA214503910 rs1055433203	540	V>M		No	ClinGen Ensembl
rs146555801 CA5698708	542	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5698706 rs368806691	543	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1037820574 CA214503900	545	Q>*		No	ClinGen TOPMed
CA378449638 rs1309764207	547	Q>E		No	ClinGen gnomAD
rs139314976 CA214503281	554	K>R		No	ClinGen ESP
rs371396501 CA5698688	555	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5698686 rs766849630	561	K>N		No	ClinGen ExAC gnomAD
CA378449222 rs1172866104	564	V>L		No	ClinGen gnomAD
CA5698683 rs772551029	565	E>G		No	ClinGen ExAC gnomAD
CA378449197 rs761603441	566	S>G		No	ClinGen ExAC gnomAD
CA5698682 COSM166463 rs761603441	566	S>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA378449130 rs1254454718	569	S>C		No	ClinGen gnomAD
CA5698681 rs774112822	573	D>G		No	ClinGen ExAC gnomAD
TCGA novel	576	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5698679 rs150555595	578	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	579	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141737793 CA5698677	579	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA214503265 rs534952680	580	G>A		No	ClinGen Ensembl
CA378448782 rs1311694854	583	K>R		No	ClinGen gnomAD
CA378448754 rs1333960020	585	E>K		No	ClinGen Ensembl
rs147429903 CA214503263	585	E>V		No	ClinGen ESP gnomAD
rs757024135 CA5698674	586	S>C		No	ClinGen ExAC gnomAD
rs781026962 CA5698675	586	S>T		No	ClinGen ExAC TOPMed gnomAD
rs752958385 CA5698673	589	L>Q		No	ClinGen ExAC gnomAD
TCGA novel	593	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1367132260 CA378448578	594	R>G		No	ClinGen gnomAD
rs984138986 CA214503254	596	T>A		No	ClinGen gnomAD
rs1171843656 CA378448537	596	T>I		No	ClinGen TOPMed
rs750933165 CA5698667	597	S>G		No	ClinGen ExAC gnomAD
CA378448501 rs1456938172	598	K>E		No	ClinGen gnomAD
CA378448493 rs1273215005	598	K>R		No	ClinGen gnomAD
CA378448458 rs768030833	600	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5698666 rs768030833	600	A>T		No	ClinGen ExAC TOPMed gnomAD
rs774166220 CA5698664	603	Q>H		No	ClinGen ExAC gnomAD
CA5698663 rs146884751	607	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA214503249 rs997546583	608	S>Y		No	ClinGen TOPMed
rs762377689 CA5698662	609	L>S		No	ClinGen ExAC gnomAD
CA5698661 rs775134226	610	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1369132297 CA378448175	614	D>H		No	ClinGen TOPMed
CA378448147 rs1440444067	615	K>E		No	ClinGen TOPMed
rs745859229 CA5698659	615	K>N		No	ClinGen ExAC gnomAD
TCGA novel	615	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5698658 rs776521944	618	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1564905873 CA378448062	619	S>N		No	ClinGen Ensembl
CA378448048 rs1353300854	620	E>K		No	ClinGen TOPMed
CA214503243 rs965842224	621	S>R		No	ClinGen gnomAD
rs1222373782 CA378447963	623	L>I		No	ClinGen TOPMed
rs1284216161 CA378447876	626	Q>H		No	ClinGen TOPMed
CA5698657 rs770747856	627	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA378447828 rs1454631559	629	Q>K		No	ClinGen gnomAD
rs779004873 CA5698655	630	M>I		No	ClinGen ExAC gnomAD
rs746760131 CA5698656	630	M>K		No	ClinGen ExAC gnomAD
rs755290939 CA5698654	631	K>R		No	ClinGen ExAC gnomAD
rs1200339808 CA378447769	632	Q>R		No	ClinGen gnomAD
rs1221094132 CA378447567	640	R>G		No	ClinGen gnomAD
rs1394586797 CA378447521	642	L>F		No	ClinGen TOPMed
CA378447489 rs756283159	644	E>G		No	ClinGen ExAC TOPMed
rs1462507496 CA378447497	644	E>Q		No	ClinGen TOPMed
CA5698631 rs756283159	644	E>V		No	ClinGen ExAC TOPMed
TCGA novel	646	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5698630 rs745883331	647	L>V		No	ClinGen ExAC gnomAD
CA5698628 rs199821888	648	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199821888 CA5698629	648	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758664195 CA5698625	648	R>L		No	ClinGen ExAC TOPMed gnomAD
rs758664195 COSM3806481 CA5698626	648	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA214503143 rs888616871	650	E>V		No	ClinGen Ensembl
rs752430429 CA5698624	652	V>D		No	ClinGen ExAC TOPMed gnomAD
rs907336413 CA214503141	653	Q>H		No	ClinGen TOPMed gnomAD
rs764824037 CA5698623	653	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	655	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5698622 rs759063400	657	A>T		No	ClinGen ExAC gnomAD
rs760712044 CA5698619	658	E>K		No	ClinGen ExAC TOPMed gnomAD
rs142919411 CA5698618	660	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs142919411 CA5698617	660	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA378447045 rs1478796660	661	C>R		No	ClinGen gnomAD
CA378447039 rs1421387508	661	C>Y		No	ClinGen gnomAD
rs1041047897 CA214503134	662	R>G		No	ClinGen gnomAD
rs745639342 CA214503132	663	Q>H		No	ClinGen gnomAD
rs896933849 CA214503133	663	Q>P		No	ClinGen TOPMed
CA214503130 rs944058983	665	E>K		No	ClinGen TOPMed
rs1564905568 CA378446846	667	K>N		No	ClinGen Ensembl
rs941008092 CA214503126	669	L>W		No	ClinGen TOPMed
TCGA novel	670	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1420590031 CA378446768	671	T>I		No	ClinGen TOPMed
rs868088410 CA214503125	672	Q>*		No	ClinGen Ensembl
CA5698615 rs775793063	673	V>L		No	ClinGen ExAC gnomAD
CA378445281 rs1276872366	678	D>H		No	ClinGen gnomAD
rs1380388964 CA378445216	681	V>A		No	ClinGen gnomAD
rs781481159 CA5698612	683	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA378445143 COSM1185101 rs1327587839	685	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1445427841 CA378445135	685	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	686	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378445128 rs1339500464	686	K>Q		No	ClinGen gnomAD
rs1299456756 CA378445095	687	H>R		No	ClinGen TOPMed
rs771113442 CA378445054	688	A>S		No	ClinGen ExAC gnomAD
rs771113442 CA5698611	688	A>T		No	ClinGen ExAC gnomAD
CA378445035 rs1397423002	689	S>C		No	ClinGen TOPMed gnomAD
CA378445022 rs1169896957	690	S>G		No	ClinGen gnomAD
CA378445005 rs1408936392	691	I>F		No	ClinGen TOPMed
CA5698609 rs778107200	693	D>V		No	ClinGen ExAC gnomAD
CA378444852 rs1248225582	699	Q>R		No	ClinGen TOPMed gnomAD
CA5698586 rs755301395	701	A>V		No	ClinGen ExAC TOPMed gnomAD
rs753516890 CA5698585	702	R>*		No	ClinGen ExAC gnomAD
CA214502933 rs751879404	702	R>Q		No	ClinGen Ensembl
CA5698584 rs201874169	705	L>V		No	ClinGen ExAC gnomAD
rs137984245 CA5698583	710	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409135579 CA378444231	711	G>R		No	ClinGen TOPMed
rs1589608051 CA378444146	712	S>R		No	ClinGen Ensembl
CA5698581 rs767047825	713	Y>C		No	ClinGen ExAC gnomAD
rs749834864 CA5698582	713	Y>H		No	ClinGen ExAC gnomAD
CA214502929 rs758807918	715	K>R		No	ClinGen Ensembl
CA5698580 rs761715759	716	E>G		No	ClinGen ExAC gnomAD
rs554900472 CA5698579	717	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1351020547 CA378443999	718	S>R		No	ClinGen gnomAD
rs764021357 CA5698578	719	S>N		No	ClinGen ExAC gnomAD
rs1055056913 CA214502927	720	M>V		No	ClinGen TOPMed gnomAD
COSM914991 CA378443886 rs1369010535	723	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs762796875 CA5698577	723	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5698576 rs370663015	724	S>C		No	ClinGen ESP ExAC gnomAD
rs766458093 CA5698575	727	S>L		No	ClinGen ExAC gnomAD
CA378443385 rs1490057964	728	G>V		No	ClinGen TOPMed
rs1564904235 CA378443366	729	S>Y		No	ClinGen Ensembl
rs199641834 CA214502569	733	R>*		No	ClinGen Ensembl
rs758542467 CA5698554	733	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5698552 rs773450184	737	E>G		No	ClinGen ExAC gnomAD
CA5698553 rs760852565	737	E>K		No	ClinGen ExAC gnomAD
rs1196387580 CA378443185	738	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767520724 COSM914990 CA5698551	739	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1262871924 CA378443164	739	R>Q		No	ClinGen gnomAD
CA378443103 rs1589606657	742	E>G		No	ClinGen Ensembl
CA378443056 rs1385661679	745	G>R		No	ClinGen TOPMed
CA378442991 rs1283680815	748	V>A		No	ClinGen TOPMed gnomAD
rs775775012 CA5698546	748	V>I		No	ClinGen ExAC gnomAD
rs1161642241 CA378442987	749	A>T		No	ClinGen TOPMed
TCGA novel	749	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs564572727 CA5698544	751	D>G		No	ClinGen ExAC gnomAD
rs1242808232 CA378442938	752	N>D		No	ClinGen gnomAD
rs756851257 CA5698541	756	V>I		No	ClinGen ExAC
CA378442806 rs1401049288	760	M>V		No	ClinGen gnomAD
rs79637542 CA5698536	771	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs79637542 CA5698535	771	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA214502548 rs750628801	772	H>N		No	ClinGen ExAC TOPMed gnomAD
CA5698534 rs750628801	772	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1457844206 CA378442587	774	R>Q		No	ClinGen gnomAD
CA378442594 rs1180864229	774	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767718072 CA5698533	779	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1265866689 CA378442473	779	I>M		No	ClinGen gnomAD
rs553836080 CA5698532	779	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1479345468 CA378442339	786	I>V		No	ClinGen TOPMed
TCGA novel	791	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751703061 CA5698531	792	E>K		No	ClinGen ExAC gnomAD
CA378442191 rs1310863790	793	I>N		No	ClinGen gnomAD
CA378442184 rs1377795833	794	R>K		No	ClinGen gnomAD
CA378440671 rs1381773500	801	Q>R		No	ClinGen gnomAD
rs145151603 CA5698512	804	I>M		No	ClinGen ESP ExAC gnomAD
rs1200949831 CA378440568	806	R>*		No	ClinGen gnomAD
rs865916899 CA214502317	806	R>L		No	ClinGen gnomAD
rs865916899 CA378440563	806	R>Q		No	ClinGen gnomAD
CA378440527 rs1267988285	809	S>T		No	ClinGen gnomAD
rs1217061767 CA378440508	810	G>D		No	ClinGen gnomAD
CA378440462 rs1459432993	813	S>F		No	ClinGen TOPMed
CA378440338 rs1350089015	820	N>D		No	ClinGen gnomAD
CA5698508 rs765719498	821	K>Q		No	ClinGen ExAC gnomAD
CA378440286 rs1400995395	823	H>Q		No	ClinGen gnomAD
CA5698507 rs759827116	823	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1445599699 CA378440254	826	R>G		No	ClinGen TOPMed
rs1295985546 CA378440235	827	R>Q		No	ClinGen gnomAD
CA5698506 rs146536805	827	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1003159680 CA214502309	828	G>D		No	ClinGen Ensembl
CA5698505 rs771411721	828	G>S		No	ClinGen ExAC TOPMed gnomAD
CA378440165 rs1173809231	832	A>S		No	ClinGen gnomAD
CA214502306 rs905773459	835	Y>C		No	ClinGen gnomAD
rs555059341 CA5698502	835	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs747632390 CA5698501	836	T>S		No	ClinGen ExAC gnomAD
CA5698500 rs778716677	838	H>Q		No	ClinGen ExAC gnomAD
rs1035466599 CA214502302	838	H>Y		No	ClinGen TOPMed
rs1191359073 CA378440046	839	P>S		No	ClinGen gnomAD
rs1446619865 CA378440028	840	A>G		No	ClinGen gnomAD
CA378440035 rs1284969196	840	A>P		No	ClinGen gnomAD
rs1202240420 CA378439985	842	N>S		No	ClinGen gnomAD
rs1330480437 CA378439965	843	G>R		No	ClinGen TOPMed gnomAD
rs148522521 CA5698498	846	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA378439876 rs1329207956	847	E>A		No	ClinGen TOPMed
rs779871444 CA5698497	848	L>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	853	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5698496 rs145767788	853	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA378439754 rs1340695419	854	R>*		No	ClinGen gnomAD
CA5698494 rs566725249 COSM914987	854	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs865796982 CA214502295	855	K>R		No	ClinGen Ensembl
CA378439679 rs1564903474	858	A>G		No	ClinGen Ensembl
CA378439653 rs1404661252	860	L>S		No	ClinGen gnomAD
CA378439591 rs1467096119	863	T>A		No	ClinGen gnomAD
COSM914986 CA5698492 rs149809810	863	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA214502291 rs1040537389	865	L>I		No	ClinGen TOPMed gnomAD
TCGA novel	867	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1386916689 CA378439521	867	N>T		No	ClinGen Ensembl
rs139639706 CA5698489	869	T>I		No	ClinGen ESP ExAC gnomAD
CA5698488 rs766877874	870	L>F		No	ClinGen ExAC gnomAD
rs761070055 CA5698487	871	K>N		No	ClinGen ExAC gnomAD
rs766932812 CA5698470	873	N>S		No	ClinGen ExAC gnomAD
CA214502185 rs760617086	879	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA378439250 rs756548615	879	T>I		No	ClinGen ExAC gnomAD
rs756548615 CA5698469	879	T>K		No	ClinGen ExAC gnomAD
rs1026242656 CA214502181	883	R>C		No	ClinGen gnomAD
CA5698467 rs188209343	883	R>H	Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs761575993 CA5698466	885	I>F		No	ClinGen ExAC gnomAD
rs1423040472 CA378439134	886	K>N		No	ClinGen gnomAD
rs1394714364 CA378439112	887	H>Q		No	ClinGen TOPMed
CA378439124 rs1365195160	887	H>Y		No	ClinGen gnomAD
rs147413442 CA5698465	891	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772205516 CA5698463	894	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1177179769 CA378438937	896	K>R		No	ClinGen gnomAD
rs775422485 CA5698462	897	K>E		No	ClinGen ExAC gnomAD

No associated diseases with Q7Z3E2

3 regional properties for Q7Z3E2

Type	Name	Position	InterPro Accession
domain	EF-hand domain	67 - 102	IPR002048-1
domain	EF-hand domain	104 - 183	IPR002048-2
binding_site	EF-Hand 1, calcium-binding site	161 - 173	IPR018247

Functions

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

1 GO annotations of cellular component

Name	Definition
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

1 GO annotations of molecular function

Name	Definition
small GTPase binding	Binding to a small monomeric GTPase.

3 GO annotations of biological process

Name	Definition
insulin secretion involved in cellular response to glucose stimulus	The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus.
response to bacterium	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 bacterium.
vesicle cytoskeletal trafficking	The directed movement of a vesicle along a cytoskeletal fiber such as a microtubule or and actin filament, mediated by motor proteins.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MSETDHIAST	SSDKNVGKTP	ELKEDSCNLF	SGNESSKLEN	ESKLLSLNTD	KTLCQPNEHN
70	80	90	100	110	120
NRIEAQENYI	PDHGGGEDSC	AKTDTGSENS	EQIANFPSGN	FAKHISKTNE	TEQKVTQILV
130	140	150	160	170	180
ELRSSTFPES	ANEKTYSESP	YDTDCTKKFI	SKIKSVSASE	DLLEEIESEL	LSTEFAEHRV
190	200	210	220	230	240
PNGMNKGEHA	LVLFEKCVQD	KYLQQEHIIK	KLIKENKKHQ	ELFVDICSEK	DNLREELKKR
250	260	270	280	290	300
TETEKQHMNT	IKQLESRIEE	LNKEVKASRD	QLIAQDVTAK	NAVQQLHKEM	AQRMEQANKK
310	320	330	340	350	360
CEEARQEKEA	MVMKYVRGEK	ESLDLRKEKE	TLEKKLRDAN	KELEKNTNKI	KQLSQEKGRL
370	380	390	400	410	420
HQLYETKEGE	TTRLIREIDK	LKEDINSHVI	KVKWAQNKLK	AEMDSHKETK	DKLKETTTKL
430	440	450	460	470	480
TQAKEEADQI	RKNCQDMIKT	YQESEEIKSN	ELDAKLRVTK	GELEKQMQEK	SDQLEMHHAK
490	500	510	520	530	540
IKELEDLKRT	FKEGMDELRT	LRTKVKCLED	ERLRTEDELS	KYKEIINRQK	AEIQNLLDKV
550	560	570	580	590	600
KTADQLQEQL	QRGKQEIENL	KEEVESLNSL	INDLQKDIEG	SRKRESELLL	FTERLTSKNA
610	620	630	640	650	660
QLQSESNSLQ	SQFDKVSCSE	SQLQSQCEQM	KQTNINLESR	LLKEEELRKE	EVQTLQAELA
670	680	690	700	710	720
CRQTEVKALS	TQVEELKDEL	VTQRRKHASS	IKDLTKQLQQ	ARRKLDQVES	GSYDKEVSSM
730	740	750	760	770	780
GSRSSSSGSL	NARSSAEDRS	PENTGSSVAV	DNFPQVDKAM	LIERIVRLQK	AHARKNEKIE
790	800	810	820	830	840
FMEDHIKQLV	EEIRKKTKII	QSYILREESG	TLSSEASDFN	KVHLSRRGGI	MASLYTSHPA
850	860	870	880	890
DNGLTLELSL	EINRKLQAVL	EDTLLKNITL	KENLQTLGTE	IERLIKHQHE	LEQRTKKT