AiPD: Autoinhibited Protein Database

Q5JSP0

Gene name	FGD3 (ZFYVE5)
Protein name	FYVE, RhoGEF and PH domain-containing protein 3
Names	Zinc finger FYVE domain-containing protein 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:89846
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

33-166 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

33-166 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

2 structures for Q5JSP0

Entry ID	Method	Resolution	Chain	Position	Source
2COC	NMR	-	A	605-703	PDB
AF-Q5JSP0-F1	Predicted				AlphaFoldDB

588 variants for Q5JSP0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5127521 rs766092617	3	S>T		No	ClinGen ExAC TOPMed gnomAD
CA374036924 rs1463767396	4	G>D		No	ClinGen gnomAD
CA5127522 rs751168903	4	G>R		No	ClinGen ExAC
CA5127525 rs759073543 CA5127524	6	G>R		No	ClinGen ExAC gnomAD
CA5127526 rs753209952	6	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1284943779 CA374037109	9	T>A		No	ClinGen gnomAD
CA374037197 rs1222787577	10	P>L		No	ClinGen gnomAD
rs1308693871 CA374037252	12	G>A		No	ClinGen gnomAD
CA5127528 rs778131755	13	P>H		No	ClinGen ExAC gnomAD
CA5127529 rs754280309	14	I>T		No	ClinGen ExAC gnomAD
rs1210875792 CA374037309	15	A>T		No	ClinGen gnomAD
rs779227069 CA5127531	15	A>V		No	ClinGen ExAC gnomAD
CA374037331 rs1479766919	16	A>T		No	ClinGen gnomAD
rs746028575 CA5127532	16	A>V		No	ClinGen ExAC gnomAD
CA374037519 rs1424454220	22	T>I		No	ClinGen gnomAD
CA374037554 rs1587823859	24	P>A		No	ClinGen Ensembl
rs780346658 CA5127534	24	P>L		No	ClinGen ExAC gnomAD
COSM456252 CA5127535 rs377204137	26	S>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA374037636 rs377204137	26	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA196385182 rs377204137	26	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1304770505 CA374037648	27	S>A		No	ClinGen gnomAD
CA196385199 rs949884646	30	G>E		No	ClinGen TOPMed gnomAD
rs1298693528 CA374037760	31	K>N		No	ClinGen gnomAD
rs772989178 CA5127537	32	L>V		No	ClinGen ExAC gnomAD
rs1388567022 CA374037824	34	A>T		No	ClinGen TOPMed
CA5127538 rs369652829	34	A>V		No	ClinGen ESP TOPMed gnomAD
CA374037907 rs770578832	39	P>S		No	ClinGen ExAC gnomAD
CA5127541 rs770578832	39	P>T		No	ClinGen ExAC gnomAD
rs774010167 CA374037932	41	A>D		No	ClinGen ExAC TOPMed gnomAD
CA374037928 rs1322020594	41	A>T		No	ClinGen TOPMed gnomAD
rs774010167 CA5127542	41	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5127544 rs767155325	42	H>R		No	ClinGen ExAC gnomAD
CA196385234 rs756073570	43	C>S		No	ClinGen Ensembl
CA374037971 rs1222404861	43	C>S		No	ClinGen gnomAD
CA374038044 rs1200434887	44	G>E		No	ClinGen TOPMed
CA5127545 rs752265509	44	G>R		No	ClinGen ExAC gnomAD
CA374038085 rs1184923461	46	P>S		No	ClinGen TOPMed gnomAD
rs1184923461 CA374038084	46	P>T		No	ClinGen TOPMed gnomAD
rs972449806 CA196385252	49	L>Q		No	ClinGen TOPMed gnomAD
TCGA novel	50	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1424661974 CA374038198	50	A>V		No	ClinGen gnomAD
CA374038236 rs1216899641	51	A>V		No	ClinGen TOPMed
rs1165647695 CA374038298	53	G>E		No	ClinGen TOPMed gnomAD
rs1445236208 CA374038327	54	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5127546 rs368894681	54	D>H		No	ClinGen ExAC TOPMed gnomAD
rs368894681 CA196385272	54	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA374038351 rs563753324	55	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563753324 CA5127548	55	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1277585071 CA374038383	56	S>C		No	ClinGen TOPMed
rs1346955500 CA374038427	57	P>L		No	ClinGen gnomAD
rs1400869556 CA374038475	59	I>V		No	ClinGen TOPMed
CA5127549 COSM3746099 rs757663428	60	G>D	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1287825466 CA374038500	60	G>S		No	ClinGen gnomAD
COSM1463628 CA5127551 rs545877092	62	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5127553 rs780399728	64	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA5127554 rs747122812	68	S>T		No	ClinGen ExAC gnomAD
CA374038844 rs1564146763	71	I>V		No	ClinGen Ensembl
CA374038917 rs1241616013	74	R>Q		No	ClinGen gnomAD
rs1214244203 CA374038907	74	R>W		No	ClinGen gnomAD
CA374038938 rs1174825369	75	D>E		No	ClinGen TOPMed
CA374038963 rs199713346	76	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5127557 rs749126466	77	G>R		No	ClinGen ExAC gnomAD
rs370587309 CA196385378	78	I>V		No	ClinGen ESP
CA5127558 rs770769294	79	D>N		No	ClinGen ExAC gnomAD
CA374039029 rs770769294	79	D>Y		No	ClinGen ExAC gnomAD
CA374039065 rs1179098073	80	S>G		No	ClinGen gnomAD
CA5127559 rs774202106	81	P>A		No	ClinGen ExAC gnomAD
CA374039156 rs1158225527	84	S>C		No	ClinGen gnomAD
rs377079877 CA5127562	85	V>A		No	ClinGen ESP ExAC gnomAD
rs771762012 CA5127561	85	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5127563 rs760263815	87	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5127565 rs564479378	88	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA5127567 rs765823691	89	N>D		No	ClinGen ExAC gnomAD
CA374039291 rs528463738	89	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5127568 rs528463738	89	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5127570 rs115303550	91	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374039349 rs1284098383	91	P>S		No	ClinGen gnomAD
CA5127571 rs201684515	92	C>R		No	ClinGen ExAC gnomAD
CA5127573 rs778483427	93	E>K		No	ClinGen ExAC gnomAD
CA5127574 rs778483427	93	E>Q		No	ClinGen ExAC gnomAD
CA5127575 rs757245016	95	G>R		No	ClinGen ExAC gnomAD
CA5127576 rs757245016	95	G>S		No	ClinGen ExAC gnomAD
rs568175301 CA5127577	96	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA5127578 rs771815209	97	E>D		No	ClinGen ExAC gnomAD
CA5127579 rs775146175	100	P>S		No	ClinGen ExAC gnomAD
CA374039735 rs1257542495	102	P>T		No	ClinGen TOPMed
rs1425857019 CA374039759	103	T>A		No	ClinGen gnomAD
CA5127580 rs746585071	103	T>S		No	ClinGen ExAC TOPMed gnomAD
rs768350149 CA5127581	105	L>V		No	ClinGen ExAC gnomAD
CA5127582 rs776061609	107	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1404691949 CA374039867	107	A>T		No	ClinGen TOPMed gnomAD
CA374039887 COSM1463630 rs776061609	107	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA374039951 rs1279325630	109	A>T		No	ClinGen gnomAD
CA5127586 rs763430522	110	E>K		No	ClinGen ExAC TOPMed gnomAD
CA374039986 rs763430522	110	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1281510542 CA374040055	112	A>D		No	ClinGen gnomAD
CA374040166 rs1415296264	115	S>N		No	ClinGen TOPMed
TCGA novel	116	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5127587 rs766788753	118	P>L		No	ClinGen ExAC TOPMed gnomAD
CA374040249 rs1196636245	118	P>S		No	ClinGen gnomAD
rs1197125585 CA374040359	122	P>S		No	ClinGen gnomAD
rs1238695510 CA374040405	123	Q>E		No	ClinGen TOPMed
rs912949868 CA196385642	123	Q>L		No	ClinGen TOPMed
rs777351004	123	Q>R	Variant assessed as Somatic; 9.328e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA374040561 rs1271280849	126	A>P		No	ClinGen TOPMed
CA5127593 rs756157681	126	A>V		No	ClinGen ExAC gnomAD
rs745757027 CA5127595	127	D>A		No	ClinGen ExAC TOPMed gnomAD
CA374040615 rs1409009325	128	S>G		No	ClinGen gnomAD
CA5127597 rs779778897	129	D>N		No	ClinGen ExAC gnomAD
CA5127599 rs768240459	130	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1344974258 CA374040714	131	G>S		No	ClinGen TOPMed gnomAD
rs1228173634 CA374040775	132	E>D		No	ClinGen gnomAD
CA5127600 rs569727530	136	S>F		No	ClinGen 1000Genomes ExAC TOPMed
rs769377481 CA5127602	137	E>D		No	ClinGen ExAC gnomAD
CA5127601 rs747688616	137	E>G		No	ClinGen ExAC gnomAD
CA196385704 rs1016910526	138	N>I		No	ClinGen Ensembl
CA5127603 rs773864228	139	T>I		No	ClinGen ExAC gnomAD
rs71496423 CA5127605	140	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199501199 CA5127604	140	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767675931 CA374041131	141	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs767675931 CA5127608	141	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1214182725	141	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5127609 rs752925504	143	A>T		No	ClinGen ExAC gnomAD
TCGA novel	144	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374041286 rs1474907886	146	D>G		No	ClinGen gnomAD
rs760768288 CA5127610	147	A>G		No	ClinGen ExAC TOPMed gnomAD
CA374041343 rs750366159	148	G>A		No	ClinGen ExAC TOPMed gnomAD
rs750366159 CA5127612	148	G>D		No	ClinGen ExAC TOPMed gnomAD
CA374041337 rs1426874922	148	G>S		No	ClinGen gnomAD
rs201993666 CA5127613	149	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA374041387 rs1320424517	151	Q>R		No	ClinGen gnomAD
rs752532031 CA5127635	152	H>D		No	ClinGen ExAC gnomAD
rs1377454277 CA374028895	155	P>S		No	ClinGen TOPMed
rs1564157556 CA374028901	156	Q>*		No	ClinGen Ensembl
rs755891847 CA5127636	156	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	159	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5127637 rs199600637	161	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1202586870 CA374028952	162	A>S		No	ClinGen TOPMed gnomAD
rs1202586870 CA374028951	162	A>T		No	ClinGen TOPMed gnomAD
rs1255938372 CA374028958	162	A>V		No	ClinGen gnomAD
CA374028966 rs1419975005	163	Q>*		No	ClinGen gnomAD
rs1184614756 CA374028968	163	Q>R		No	ClinGen TOPMed gnomAD
CA374028976 rs1323008068	164	E>G		No	ClinGen TOPMed
CA196369351 rs200025683	165	L>P		No	ClinGen Ensembl
TCGA novel	167	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779311657 CA5127640 COSM1207021	169	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs746328360 CA5127641	170	E>*		No	ClinGen ExAC gnomAD
CA196369384 rs746328360	170	E>K		No	ClinGen ExAC gnomAD
CA5127642 rs185562120	171	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1424233555 CA374029035	173	V>G		No	ClinGen TOPMed gnomAD
rs775900978 CA374029044	175	R>G		No	ClinGen ExAC gnomAD
CA5127644 rs747350454	175	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775900978 CA5127643 COSM1463636	175	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA374029048 rs1476854957	176	L>V		No	ClinGen TOPMed
CA5127645 rs768903942	177	H>N		No	ClinGen ExAC gnomAD
COSM456254 rs1284671067 CA374029058	177	H>Q	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5127646 rs776793657	181	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1262480729 CA374029182	182	V>F		No	ClinGen gnomAD
rs748331441 CA5127666	185	T>I		No	ClinGen ExAC TOPMed gnomAD
rs946726395 CA196370502	186	R>G		No	ClinGen TOPMed
CA374029334 rs1244592531	188	T>M		No	ClinGen TOPMed
rs773396820 CA374029362	191	G>E		No	ClinGen ExAC TOPMed gnomAD
rs769901274 CA5127667	191	G>R		No	ClinGen ExAC gnomAD
rs773396820 CA5127668	191	G>V		No	ClinGen ExAC TOPMed gnomAD
rs762923444 CA5127669	193	P>L		No	ClinGen ExAC gnomAD
rs1288992232 CA374029407	194	P>L		No	ClinGen gnomAD
rs1380202796 CA374029463	198	M>V		No	ClinGen gnomAD
rs1246429460 CA374029554	202	S>C		No	ClinGen TOPMed
CA374029676 rs1294397524	209	R>C		No	ClinGen gnomAD
rs1320485111 CA374029687	209	R>L		No	ClinGen gnomAD
CA196370538 rs939528847	211	H>P		No	ClinGen TOPMed
CA374029762 CA374029759 rs1221409347	212	G>R		No	ClinGen gnomAD
CA5127673 rs372428454	217	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329647010 CA374029855	217	P>S		No	ClinGen TOPMed
rs753545285 CA5127674	218	E>D		No	ClinGen ExAC gnomAD
rs1445457692 CA374029943	220	K>N		No	ClinGen gnomAD
rs895419179 CA196370565	221	T>R		No	ClinGen TOPMed
CA374029949 rs1249723044	221	T>S		No	ClinGen gnomAD
rs1163586092 CA374029962	222	R>W		No	ClinGen TOPMed
TCGA novel	226	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749988917 CA5127678	227	W>R		No	ClinGen ExAC TOPMed gnomAD
CA5127700 rs781646497	228	D>N		No	ClinGen ExAC gnomAD
CA5127701 rs753148267	230	N>Y		No	ClinGen ExAC gnomAD
rs372928979 CA196372600	231	P>A		No	ClinGen ESP
rs749416844 CA5127704	232	R>Q		No	ClinGen ExAC gnomAD
rs778083311 CA5127703	232	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5127705 rs771140025	235	D>N		No	ClinGen ExAC TOPMed gnomAD
CA374031009 rs529491964	240	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5127708 rs768764422	244	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1384441687 CA374031083	246	M>L		No	ClinGen gnomAD
rs761688555 CA5127710	247	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA196372670 rs375810720	248	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs375810720 CA5127712	248	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA196372697 rs550953081	249	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA5127714 rs765999140	250	Y>D		No	ClinGen ExAC gnomAD
CA374031198 rs1273149261	252	K>N		No	ClinGen gnomAD
CA5127716 rs759012452	253	N>K		No	ClinGen ExAC
CA5127715 rs569587664	253	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374031256 rs1587846831	255	D>A		No	ClinGen Ensembl
CA5127718 rs768103250 COSM2732020	256	R>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs768103250 CA374031267	256	R>G		No	ClinGen ExAC TOPMed gnomAD
CA374031273 rs1427182830	256	R>P		No	ClinGen TOPMed
rs753098628 CA5127719	257	A>P		No	ClinGen ExAC TOPMed gnomAD
rs371917520 CA5127721 COSM1111194	258	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1490817801 CA374031347	261	V>M		No	ClinGen gnomAD
rs1196180220 CA374031381	263	T>M		No	ClinGen TOPMed gnomAD
CA374031386 rs1341201382	264	W>*		No	ClinGen TOPMed
CA5127723 rs200710978	265	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5127724 rs779257010	266	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs745975576 CA5127725	266	Q>L		No	ClinGen ExAC gnomAD
CA374031437 rs1428157102	267	R>C		No	ClinGen TOPMed gnomAD
CA5127726 rs758500993	267	R>H	Variant assessed as Somatic; 0.0003734 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1428157102 CA374031436	267	R>S		No	ClinGen TOPMed gnomAD
rs781202531 CA196372779	269	P>A		No	ClinGen ExAC
CA5127727 rs781202531	269	P>T		No	ClinGen ExAC
rs747968514 CA5127728	270	L>Q		No	ClinGen ExAC gnomAD
rs769761934 CA196372794	273	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1427080731 CA374031539	273	D>N		No	ClinGen TOPMed gnomAD
CA196372850 rs1041153177	274	V>A		No	ClinGen TOPMed
COSM1252387 rs533337603 CA5127730	274	V>I	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
VAR_021492 rs3802384 CA5127732	275	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1564159140 CA374031597	277	S>G		No	ClinGen Ensembl
rs1227475033 CA374031604	277	S>R		No	ClinGen TOPMed gnomAD
rs759071785 CA5127734	278	I>V		No	ClinGen ExAC gnomAD
rs758573790 CA5127760	283	V>L		No	ClinGen ExAC TOPMed gnomAD
CA374032204 rs1409788194	285	G>R		No	ClinGen TOPMed gnomAD
CA374032210 rs1456943588	286	N>H		No	ClinGen gnomAD
rs766598194 CA5127762	286	N>S		No	ClinGen ExAC TOPMed gnomAD
CA374032213 rs766598194	286	N>T		No	ClinGen ExAC TOPMed gnomAD
CA5127764 rs755043462	288	T>M		No	ClinGen ExAC gnomAD
CA5127766 rs753720890	291	H>P		No	ClinGen ExAC gnomAD
CA5127767 rs757053693	296	P>L		No	ClinGen ExAC gnomAD
COSM1111198 rs1327827982 CA374032304	297	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs771672283 CA374032338	299	R>S		No	ClinGen ExAC TOPMed gnomAD
CA196376741 rs267602317	301	P>S		No	ClinGen TOPMed
rs768152156 CA374032367	302	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5127773 rs768152156 COSM1463638	302	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5127775 rs200081651	304	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5127776 rs770410348	309	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA5127777 rs773757537	313	R>S		No	ClinGen ExAC gnomAD
rs763342855 CA5127778	314	L>I		No	ClinGen ExAC gnomAD
CA374032560 rs1464705963	314	L>P		No	ClinGen gnomAD
CA5127780 rs751754424	315	P>L		No	ClinGen ExAC TOPMed gnomAD
CA196376858 rs890950993	316	Q>K		No	ClinGen TOPMed gnomAD
CA5127782 rs767521210	316	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA196376871 rs375849637	317	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1460437647 CA374032622	317	D>H		No	ClinGen TOPMed gnomAD
rs1302722786 CA374032640	318	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA374032652 rs1276065003	318	A>V		No	ClinGen TOPMed
rs1178551510 CA374032653	319	P>S		No	ClinGen Ensembl
rs964745951 CA196376886	320	D>H		No	ClinGen TOPMed gnomAD
rs368560686 CA5127786	321	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5127785 rs113145792 COSM1580897	321	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA196376900 rs992023045	323	D>G		No	ClinGen Ensembl
CA374032737 rs1467026922	323	D>H		No	ClinGen TOPMed gnomAD
CA374032735 rs1467026922	323	D>N		No	ClinGen TOPMed gnomAD
rs968125187 COSM1207024 CA196376903	324	A>V	large_intestine Variant assessed as Somatic; 4.73e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA5127817 rs774840229	326	R>K		No	ClinGen ExAC gnomAD
TCGA novel	327	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	327	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746214233 CA5127818	330	L>P		No	ClinGen ExAC gnomAD
rs1244243465 CA374033676	331	I>T		No	ClinGen TOPMed gnomAD
CA374033695 rs1587852980	332	S>C		No	ClinGen Ensembl
CA196377957 rs866402214	332	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1268826141 CA374033715	333	T>I		No	ClinGen gnomAD
rs760768174 CA5127821	335	A>D		No	ClinGen ExAC gnomAD
CA5127820 rs775651464	335	A>T		No	ClinGen ExAC TOPMed gnomAD
rs764091842 CA5127822	336	N>S		No	ClinGen ExAC gnomAD
CA374033867 rs1176220590	339	N>S		No	ClinGen gnomAD
CA374033877 rs1159261366	340	A>P		No	ClinGen gnomAD
CA5127825 rs199858851	343	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1413469101 CA374033931	343	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5127852 rs368858332	351	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA196380271 rs758899916	356	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5127854 rs758899916	356	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs368407116 CA196380321	359	G>S		No	ClinGen ESP
CA374035021 rs1205806241	360	G>R		No	ClinGen gnomAD
CA5127858 rs201225542	363	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5127857 rs201225542	363	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1482032491 CA374035158	366	N>S		No	ClinGen gnomAD
CA374035155 rs1482032491	366	N>T		No	ClinGen gnomAD
CA5127861 rs774432531	368	A>S		No	ClinGen ExAC gnomAD
CA374035199 rs1422943228	368	A>V		No	ClinGen TOPMed
CA5127863 rs374980002	372	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA374035302 rs1189026143	373	K>R		No	ClinGen gnomAD
CA374035297 rs1189026143	373	K>T		No	ClinGen gnomAD
CA196380367 rs931163093	377	I>V		No	ClinGen Ensembl
CA5127865 rs760356830	378	Q>R		No	ClinGen ExAC gnomAD
rs1372988027 CA374035541	382	A>S		No	ClinGen gnomAD
CA374035558 rs1428356097	382	A>V		No	ClinGen gnomAD
rs34412050 CA196380387	386	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs34412050 CA5127871	386	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA196380421 rs906580954	387	P>L		No	ClinGen Ensembl
rs543071431 CA5127872	387	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5127873 rs543071431	387	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1265663134 CA374035711	388	Q>*		No	ClinGen TOPMed gnomAD
CA5127875 rs202214207	388	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1202008906 CA374035756	389	D>G		No	ClinGen gnomAD
rs561066252 CA5127876	390	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770049768 CA5127877	390	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	392	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5127879 rs749358127	393	F>L		No	ClinGen ExAC gnomAD
rs1052236955 CA374036477	395	F>L		No	ClinGen gnomAD
CA5127902 rs747941055	396	N>D		No	ClinGen ExAC gnomAD
CA374036535 rs1329160167	398	M>V		No	ClinGen TOPMed gnomAD
CA374036581 rs1237891128	400	L>F		No	ClinGen TOPMed
rs772799038 CA5127904	402	C>G		No	ClinGen ExAC gnomAD
rs772799038 CA5127905	402	C>R		No	ClinGen ExAC gnomAD
rs1204960104 CA374036673 COSM1111206	404	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5127908 rs760017502	407	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5127907 rs374048614	407	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1256908973 CA374036727	408	L>F		No	ClinGen gnomAD
TCGA novel	408	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290212757 CA374036776	409	M>I		No	ClinGen TOPMed gnomAD
rs1184428064 CA374036796	410	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA374036813 rs1410082266	411	Q>*		No	ClinGen gnomAD
CA374036818 rs1361108412	411	Q>P		No	ClinGen gnomAD
CA374036901 rs1280647633	413	F>L		No	ClinGen TOPMed
CA196382168 rs373996560	415	V>I		No	ClinGen TOPMed gnomAD
CA196382187 rs901766855	416	R>Q		No	ClinGen Ensembl
rs756508028 CA5127911	416	R>W		No	ClinGen ExAC gnomAD
rs1355195295 CA374036984	417	E>K		No	ClinGen TOPMed
CA196382210 rs377573890	419	M>I		No	ClinGen ESP
rs1412693566 CA374037009	419	M>T		No	ClinGen gnomAD
rs764434062 CA5127912	423	G>V		No	ClinGen ExAC gnomAD
rs201899497 CA5127914	425	Q>E		No	ClinGen 1000Genomes ExAC
CA5127936 rs752563826	427	Q>K		No	ClinGen ExAC gnomAD
CA5127937 rs370316171	427	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs999917536 CA196384388	428	D>E		No	ClinGen TOPMed gnomAD
rs777600911 CA5127938	428	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5127939 rs749059480	429	I>T		No	ClinGen ExAC gnomAD
rs778590186 CA5127941 COSM1463646	430	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1446698210 CA374038166	431	K>Q		No	ClinGen gnomAD
CA196384436 rs987321587	434	T>A		No	ClinGen TOPMed
rs775869233 CA5127944	436	H>Q		No	ClinGen ExAC gnomAD
CA196384437 rs1018345315	436	H>R		No	ClinGen Ensembl
rs974243357 CA196384455	437	T>I		No	ClinGen Ensembl
TCGA novel	438	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374038325 rs1236989191	438	F>Y		No	ClinGen TOPMed
COSM1111210 CA5127946 rs376360399	441	T>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA374038436 rs376360399	441	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	441	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374038470 rs1325685542	442	G>E		No	ClinGen gnomAD
CA5127948 rs762225148	444	K>E		No	ClinGen ExAC gnomAD
CA5127950 rs750597235	445	R>K		No	ClinGen ExAC TOPMed gnomAD
CA196384470 rs750597235	445	R>M		No	ClinGen ExAC TOPMed gnomAD
rs374142323 CA196384478	445	R>S		No	ClinGen ESP
rs762946055 CA5127951	446	S>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5127952 rs766547157	446	S>Y		No	ClinGen ExAC gnomAD
rs751623335 CA5127953	451	T>A		No	ClinGen ExAC gnomAD
CA5127954 rs528777144	451	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5127957 rs200377280	452	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5127958 rs200377280	452	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5127956 rs753665981	452	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1276415444 CA374039387	454	E>D		No	ClinGen TOPMed
rs902740499 CA196386038	455	E>K		No	ClinGen Ensembl
TCGA novel	457	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	459	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs954634406 CA196386046	461	I>T		No	ClinGen TOPMed
CA5127985 rs527736568	463	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA374039857 rs1257951935	463	I>N		No	ClinGen TOPMed
rs1424360013 CA374039853	463	I>V		No	ClinGen TOPMed
rs1430215119 CA374039876	464	I>T		No	ClinGen Ensembl
CA5127986 rs140948540	466	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs942266260 CA196386564	467	T>A		No	ClinGen TOPMed
CA196386585 rs61753294	469	E>K		No	ClinGen TOPMed gnomAD
rs1176225518 CA374040096	470	K>N		No	ClinGen gnomAD
CA374040119 rs1407741443	471	H>Q		No	ClinGen gnomAD
rs1205945316 CA374040111	471	H>Y		No	ClinGen TOPMed
rs770188313 CA5127988	472	K>Q		No	ClinGen ExAC
rs1434164063 CA374040193	475	S>N		No	ClinGen TOPMed gnomAD
rs773672978 CA374040212	475	S>R		No	ClinGen ExAC gnomAD
rs749584174 CA5127990	476	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749584174 CA5127991	476	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1341602114 CA374040267	477	T>N		No	ClinGen TOPMed
CA374040266 rs1244655153	477	T>S		No	ClinGen TOPMed
CA374040283 rs1308721041	478	F>S		No	ClinGen gnomAD
rs759625711 CA5127993	481	F>S		No	ClinGen ExAC gnomAD
CA374040496 rs1279242014	482	G>C		No	ClinGen gnomAD
rs761872378 CA5127996	484	A>S		No	ClinGen ExAC TOPMed gnomAD
rs761872378 CA374040549	484	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA374040558 rs1300964481	484	A>V		No	ClinGen gnomAD
CA374040582 rs11790517	485	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA196386660 rs1030024839	487	Q>P		No	ClinGen TOPMed
CA5127998 rs750275329	488	D>E		No	ClinGen ExAC
CA374040689 rs1587863673	488	D>G		No	ClinGen Ensembl
CA5128000 rs202172343	490	D>A		No	ClinGen ExAC gnomAD
CA374040766 rs1435514227	490	D>E		No	ClinGen gnomAD
rs192951780 CA5127999	490	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1564167406 CA374040778	491	P>S		No	ClinGen Ensembl
CA196386667 rs747383379	493	L>F		No	ClinGen TOPMed
rs747383379 CA374040845	493	L>I		No	ClinGen TOPMed
CA196386672 rs1007824046	495	P>L		No	ClinGen TOPMed
CA5128001 rs751186757	495	P>S		No	ClinGen ExAC gnomAD
rs1017410088 CA196386680	497	M>V		No	ClinGen TOPMed gnomAD
CA5128003 rs780906712	498	P>L		No	ClinGen ExAC
CA5128002 rs754669799	498	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	499	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs896175004 CA196388866	499	I>T		No	ClinGen TOPMed gnomAD
rs774948866 CA5128040	499	I>V		No	ClinGen ExAC gnomAD
rs200349085 CA5128041	500	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs375653384 CA5128042	501	S>N		No	ClinGen ExAC gnomAD
rs1326497099 CA374041750	503	S>T		No	ClinGen gnomAD
CA5128046 rs374049906	506	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5128047 rs758717796	507	P>L		No	ClinGen ExAC gnomAD
rs367900629 CA5128048	509	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs201157431 CA5128049	511	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1598552 rs781175456 CA5128051	512	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs564737909 CA5128052	514	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs367688293 CA5128054	515	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5128053 rs367688293	515	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA374041898 rs367688293	515	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA5128056 rs771698708	516	G>D		No	ClinGen ExAC gnomAD
rs546814653	520	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1212184017 CA374044282	520	L>F		No	ClinGen TOPMed
rs565849461 CA5128090	521	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA5128089 rs565849461	521	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1564172275 CA374044311	522	P>A		No	ClinGen Ensembl
CA5128092 rs753945966	526	S>F		No	ClinGen ExAC gnomAD
CA374044503 TCGA novel rs1587873389	529	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA5128094 rs780003397 COSM1636774	531	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system bone [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA374044557 rs1165853489	531	R>H		No	ClinGen TOPMed gnomAD
rs1048788744 CA196399835	532	D>N		No	ClinGen Ensembl
rs1415289156 CA374044663	535	K>R		No	ClinGen gnomAD
CA374044708 rs1395296915	538	C>R		No	ClinGen gnomAD
CA374044718 rs1307808752	538	C>Y		No	ClinGen TOPMed
CA374044743 CA5128095 rs746807401	539	K>N		No	ClinGen ExAC gnomAD
CA5128096 CA196399837 rs200522249	540	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374044755 rs1446924586	540	S>T		No	ClinGen TOPMed
CA374044808 rs1455825572	544	T>I		No	ClinGen gnomAD
CA374044857 rs1456802979	548	I>V		No	ClinGen Ensembl
CA374044875 rs1415542049	549	T>I		No	ClinGen gnomAD
TCGA novel	550	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372321970 CA5128098	552	R>K		No	ClinGen ESP ExAC gnomAD
CA374044938 rs1460726004	554	H>D		No	ClinGen TOPMed
rs1036083613 CA196399855	555	C>R		No	ClinGen Ensembl
CA374045012 rs1350312768	559	G>E		No	ClinGen TOPMed
CA374045006 rs1307474955	559	G>R		No	ClinGen gnomAD
TCGA novel	560	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5128099 rs769412529	560	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5128100 rs200204136	560	A>V	Variant assessed as Somatic; 4.794e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5128124 rs201576191	562	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5128123 rs772685844	562	I>V		No	ClinGen ExAC gnomAD
rs748207754 CA196402080	568	E>K		No	ClinGen TOPMed gnomAD
CA5128131 rs754945731	572	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5128130 rs750443604	572	E>K		No	ClinGen ExAC gnomAD
rs1587876041 CA374045463	573	N>T		No	ClinGen Ensembl
rs747655335 CA5128133	575	R>Q		No	ClinGen ExAC gnomAD
CA5128132 rs767400375	575	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA374045513 CA196402101 rs1043899854	576	Q>H		No	ClinGen TOPMed gnomAD
CA374045532 rs1564173532	578	R>C		No	ClinGen Ensembl
CA374045534 rs1301206841	578	R>H		No	ClinGen gnomAD
CA374045566 rs1444893222	581	R>G		No	ClinGen TOPMed gnomAD
rs1587876073 CA374045572	581	R>T		No	ClinGen Ensembl
rs755844401 CA5128134	584	F>S		No	ClinGen ExAC
CA5128135 rs777295254	586	T>I		No	ClinGen ExAC TOPMed gnomAD
CA374045635 rs1587876080	586	T>P		No	ClinGen Ensembl
CA5128137 rs756847541	587	Q>R		No	ClinGen ExAC gnomAD
rs1305403900 CA374045673	588	P>L		No	ClinGen gnomAD
CA374045669 rs1267870997	588	P>S		No	ClinGen TOPMed
rs1226109103 CA374045686	590	A>T		No	ClinGen TOPMed
TCGA novel	594	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1203326849 CA374045747	594	T>S		No	ClinGen gnomAD
rs778535151 CA5128138	595	E>K		No	ClinGen ExAC TOPMed gnomAD
CA374045886 rs1163433447	596	K>Q		No	ClinGen TOPMed
CA5128184 rs554210740	597	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs771119968 CA5128186	598	P>L		No	ClinGen ExAC gnomAD
CA5128185 rs749569150	598	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1171468704 CA374045915	600	A>V		No	ClinGen gnomAD
CA374045919 rs1587878350	601	D>A		No	ClinGen Ensembl
CA374045924 rs1331324181	602	P>S		No	ClinGen TOPMed gnomAD
rs1331324181 CA374045925	602	P>T		No	ClinGen TOPMed gnomAD
rs1446476409 CA374045937	603	Q>H		No	ClinGen TOPMed gnomAD
rs769439022	603	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA374045959 rs1373814136	607	L>F		No	ClinGen gnomAD
rs765011647 CA196403895	609	G>A		No	ClinGen ExAC TOPMed gnomAD
rs765011647 CA5128193	609	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5128192 rs762399700 COSM1111216	609	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs751133772 CA5128198	612	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM1463651 CA5128197 rs751133772	612	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5128196 rs199718653 COSM1169171	612	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1194026785 CA374046010	616	S>N		No	ClinGen gnomAD
rs781723786 CA5128199	616	S>R		No	ClinGen ExAC TOPMed gnomAD
rs201293276 CA196403935	617	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201293276 CA5128200	617	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756630868 CA5128201	618	E>K		No	ClinGen ExAC gnomAD
rs1281726677 CA374046033	620	W>*		No	ClinGen TOPMed
TCGA novel	620	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463216793 CA374046049	622	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs749622110 CA5128203	623	V>M		No	ClinGen ExAC gnomAD
rs1465492204 CA374046069	625	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5128207 rs771981149	626	A>D		No	ClinGen ExAC gnomAD
rs745976241 CA5128206	626	A>T		No	ClinGen ExAC TOPMed gnomAD
rs771981149 CA374046078	626	A>V		No	ClinGen ExAC gnomAD
rs1386082486 CA374046091	628	P>L		No	ClinGen TOPMed
CA5128208 rs775637865	629	M>T		No	ClinGen ExAC gnomAD
CA5128209 rs748096509	632	P>A		No	ClinGen ExAC gnomAD
CA5128210 rs748096509	632	P>S		No	ClinGen ExAC gnomAD
rs1457255688 CA374046120	633	Q>*		No	ClinGen TOPMed
rs774092264 CA5128214	636	H>Q		No	ClinGen ExAC gnomAD
rs368703883 CA5128213	636	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374046150 rs1247046272	638	Q>*		No	ClinGen TOPMed
rs759215576 CA5128215	638	Q>R		No	ClinGen ExAC gnomAD
CA5128216 rs767003486	639	G>R		No	ClinGen ExAC gnomAD
rs1422493551 CA374046169	641	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1323701222 CA374046180	642	Q>H		No	ClinGen TOPMed gnomAD
rs754883521 CA374046178	642	Q>L		No	ClinGen gnomAD
CA196404061 rs754883521	642	Q>P		No	ClinGen gnomAD
CA374046193 rs199514676	643	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5128236 rs199514676	643	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1482692628 CA374046204	644	G>D		No	ClinGen gnomAD
CA5128238 rs757745593	644	G>S		No	ClinGen ExAC TOPMed gnomAD
rs202062298 CA5128240	645	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5128239 rs765653449	645	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1421421159 CA374046214	647	P>A		No	ClinGen gnomAD
CA374046215 rs1421421159	647	P>S		No	ClinGen gnomAD
CA5128243 rs552738104	648	R>C	Variant assessed as Somatic; 4.972e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs552738104 CA374046220	648	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5128244 rs200577392	648	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374046221 rs200577392	648	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781411296 CA5128245	649	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5128247 rs770962151	652	L>F		No	ClinGen ExAC TOPMed
CA5128251 rs771653886	657	L>M		No	ClinGen ExAC TOPMed
CA374046283 rs1444269728	658	S>N		No	ClinGen gnomAD
rs1308531095 CA374046287	658	S>R		No	ClinGen gnomAD
rs775140624 CA5128253	659	V>M		No	ClinGen ExAC gnomAD
CA5128255 rs768210436	660	P>A		No	ClinGen ExAC gnomAD
CA5128256 rs372426495	660	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA196404837 rs768210436	660	P>S		No	ClinGen ExAC gnomAD
rs767289354 CA196404855	662	P>H		No	ClinGen gnomAD
rs1587879359 CA374046341	667	D>G		No	ClinGen Ensembl
rs1238161526 CA374046337	667	D>H		No	ClinGen gnomAD
rs201485764 CA5128260	668	S>L		No	ClinGen 1000Genomes ESP TOPMed
CA374046353 rs1195613651	669	G>E		No	ClinGen gnomAD
COSM1207023 rs377406819 CA5128264	670	H>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5128268 rs536596294	672	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs752803608 CA5128267	672	W>R		No	ClinGen ExAC TOPMed gnomAD
rs778870105 CA374046384	674	L>M		No	ClinGen ExAC gnomAD
CA374046385 rs1377856858	674	L>Q		No	ClinGen TOPMed
CA5128269 rs778870105	674	L>V		No	ClinGen ExAC gnomAD
rs370940463 CA196404911	675	Q>H		No	ClinGen ESP TOPMed gnomAD
CA196404942 rs368696675	677	A>S		No	ClinGen ExAC gnomAD
CA5128271 rs368696675	677	A>T		No	ClinGen ExAC gnomAD
CA5128273 rs746729218	678	K>E		No	ClinGen ExAC gnomAD
CA374046419 rs1169233824	679	Q>R		No	ClinGen TOPMed
rs1197158662 CA374046436	681	W>C		No	ClinGen TOPMed gnomAD
CA5128274 rs768263531	681	W>R		No	ClinGen ExAC gnomAD
rs1416479250 CA374046441	682	Y>C		No	ClinGen TOPMed
rs373857408 CA5128277	684	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5128278 rs547774514	685	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5128279 rs377497500	685	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA374046462 rs1477778848	686	S>A		No	ClinGen TOPMed gnomAD
CA374046466 rs1333028017	686	S>F		No	ClinGen TOPMed
CA5128282 rs55839347	688	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767799689 CA5128283	691	Q>*		No	ClinGen ExAC gnomAD
rs767799689 CA374046491	691	Q>K		No	ClinGen ExAC gnomAD
rs767263412 CA196404994	691	Q>P		No	ClinGen Ensembl
rs1260734125 CA374046498	692	Q>E		No	ClinGen gnomAD
CA5128284 rs752856721	694	W>R		No	ClinGen ExAC gnomAD
CA5128286 rs765099403	696	E>G		No	ClinGen ExAC gnomAD
CA5128287 rs750432433	697	T>N		No	ClinGen ExAC
rs1442145033 CA374046562	701	A>V		No	ClinGen TOPMed
CA374046563 rs1564175277	702	A>T		No	ClinGen Ensembl
CA5128289 rs779935844	702	A>V		No	ClinGen ExAC gnomAD
rs750226751 CA196405023	705	D>G		No	ClinGen Ensembl
rs575211419 CA5128290	705	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA5128291 rs536729891	706	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA374046598 rs1451484261	707	A>V		No	ClinGen gnomAD
TCGA novel	709	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216599792 CA374046618	710	S>N		No	ClinGen gnomAD
CA5128293 rs747673920	711	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5128294 rs747673920	711	P>R		No	ClinGen ExAC TOPMed gnomAD
rs902153909 CA196405029	711	P>S		No	ClinGen TOPMed
CA374046634 rs1193274419	713	A>T		No	ClinGen gnomAD
CA5128296 rs749842701	716	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5128297 rs771321003	717	Q>*		No	ClinGen ExAC gnomAD
rs1196552017 CA374046661	717	Q>H		No	ClinGen TOPMed
rs771321003 CA374046656	717	Q>K		No	ClinGen ExAC gnomAD
CA374046659 rs1412994685	717	Q>R		No	ClinGen gnomAD
CA374046671 rs1467308537	719	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5128298 rs774879763	720	M>K		No	ClinGen ExAC
CA374046676 rs1401148907	720	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	721	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371619970 CA5128300	722	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs996052344 CA196405098	722	A>V		No	ClinGen gnomAD
CA5128302 rs202018384	725	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5128303 rs202018384	725	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5128301 rs775796206	725	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD

No associated diseases with Q5JSP0

6 regional properties for Q5JSP0

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	157 - 341	IPR000219
domain	FYVE zinc finger	524 - 589	IPR000306
domain	Pleckstrin homology domain	370 - 471	IPR001849-1
domain	Pleckstrin homology domain	604 - 705	IPR001849-2
domain	Zinc finger, FYVE-related	532 - 588	IPR017455
domain	FGD1-4, C-terminal PH domain	598 - 702	IPR035941

Functions

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

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.

3 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
metal ion binding	Binding to a metal ion.
small GTPase binding	Binding to a small monomeric GTPase.

6 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
filopodium assembly	The assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7Z6J4	FGD2	FYVE, RhoGEF and PH domain-containing protein 2	Homo sapiens (Human)	PR
P98174	FGD1	FYVE, RhoGEF and PH domain-containing protein 1	Homo sapiens (Human)	PR
P52734	Fgd1	FYVE, RhoGEF and PH domain-containing protein 1	Mus musculus (Mouse)	PR
Q8BY35	Fgd2	FYVE, RhoGEF and PH domain-containing protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MESGRGSSTP	PGPIAALGMP	DTGPGSSSLG	KLQALPVGPR	AHCGDPVSLA	AAGDGSPDIG
70	80	90	100	110	120
PTGELSGSLK	IPNRDSGIDS	PSSSVAGENF	PCEEGLEAGP	SPTVLGAHAE	MALDSQVPKV
130	140	150	160	170	180
TPQEEADSDV	GEEPDSENTP	QKADKDAGLA	QHSGPQKLLH	IAQELLHTEE	TYVKRLHLLD
190	200	210	220	230	240
QVFCTRLTDA	GIPPEVIMGI	FSNISSIHRF	HGQFLLPELK	TRITEEWDTN	PRLGDILQKL
250	260	270	280	290	300
APFLKMYGEY	VKNFDRAVGL	VSTWTQRSPL	FKDVVHSIQK	QEVCGNLTLQ	HHMLEPVQRV
310	320	330	340	350	360
PRYELLLKDY	LKRLPQDAPD	RKDAERSLEL	ISTAANHSNA	AIRKVEKMHK	LLEVYEQLGG
370	380	390	400	410	420
EEDIVNPANE	LIKEGQIQKL	SAKNGTPQDR	HLFLFNSMIL	YCVPKLRLMG	QKFSVREKMD
430	440	450	460	470	480
ISGLQVQDIV	KPNTAHTFII	TGRKRSLELQ	TRTEEEKKEW	IQIIQATIEK	HKQNSETFKA
490	500	510	520	530	540
FGGAFSQDED	PSLSPDMPIT	STSPVEPVVT	TEGSSGAAGL	EPRKLSSKTR	RDKEKQSCKS
550	560	570	580	590	600
CGETFNSITK	RRHHCKLCGA	VICGKCSEFK	AENSRQSRVC	RDCFLTQPVA	PESTEKTPTA
610	620	630	640	650	660
DPQPSLLCGP	LRLSESGETW	SEVWAAIPMS	DPQVLHLQGG	SQDGRLPRTI	PLPSCKLSVP
670	680	690	700	710	720
DPEERLDSGH	VWKLQWAKQS	WYLSASSAEL	QQQWLETLST	AAHGDTAQDS	PGALQLQVPM

GAAAP