AiPD: Autoinhibited Protein Database

Q9Y3L3

Gene name	SH3BP1
Protein name	SH3 domain-binding protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23616
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

41-113 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

41-113 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

3 structures for Q9Y3L3

Entry ID	Method	Resolution	Chain	Position	Source
4J9D	X-ray	150 A	B/D/F	616-625	PDB
4J9F	X-ray	109 A	B/D/F	616-625	PDB
AF-Q9Y3L3-F1	Predicted				AlphaFoldDB

597 variants for Q9Y3L3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs936823899 CA324104809	2	M>I		No	ClinGen Ensembl
TCGA novel	5	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767021540 CA10221608	7	H>Y		No	ClinGen ExAC gnomAD
CA324104843 rs868004862	8	R>H		No	ClinGen Ensembl
rs865950124 CA324104830	8	R>S		No	ClinGen Ensembl
CA411444267 rs1431641162	13	A>D		No	ClinGen gnomAD
rs1431641162 CA411444268	13	A>G		No	ClinGen gnomAD
rs1176062347 CA411444305	19	G>R		No	ClinGen gnomAD
rs1444509849 CA411444313	20	R>C		No	ClinGen gnomAD
rs1569004610 CA411444603	21	T>N		No	ClinGen Ensembl
CA10221669 rs774773335	21	T>P		No	ClinGen ExAC gnomAD
CA10221670 rs376923613	22	P>L		No	ClinGen ExAC TOPMed
CA10221671 rs767839845	25	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1445369958 CA411444647	26	E>D		No	ClinGen gnomAD
TCGA novel	28	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10221672 rs201253777	29	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs942740799 CA324106151	30	E>Q		No	ClinGen gnomAD
rs1180867135 CA411444682	32	L>M		No	ClinGen TOPMed
rs1302319115 CA411444690	33	L>R		No	ClinGen gnomAD
rs1268107385 CA411444699	34	Q>H		No	ClinGen gnomAD
CA411444697 rs1432453722	34	Q>P		No	ClinGen gnomAD
rs913082754 CA324106383	38	R>Q		No	ClinGen TOPMed gnomAD
rs1471015359 CA411444776	38	R>W		No	ClinGen TOPMed gnomAD
CA411444796 rs1410685336	40	E>G		No	ClinGen gnomAD
rs745514928 CA10221685	41	P>L		No	ClinGen ExAC TOPMed gnomAD
rs745514928 CA411444813	41	P>R		No	ClinGen ExAC TOPMed gnomAD
CA411444808 rs1469992523	41	P>S		No	ClinGen gnomAD
CA324106392 rs868525150	42	A>T		No	ClinGen Ensembl
rs1601580050 CA411444841	43	K>Q		No	ClinGen Ensembl
CA411444854 rs1394989428	43	K>R		No	ClinGen gnomAD
TCGA novel	44	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440395506 CA411444871	44	R>Q		No	ClinGen TOPMed gnomAD
CA411444869 rs775063102	44	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1324794792 CA411444964	51	K>R		No	ClinGen gnomAD
CA10221688 rs762234615	52	R>L		No	ClinGen ExAC gnomAD
CA10221689 rs762234615	52	R>Q		No	ClinGen ExAC gnomAD
CA411444974 rs1225562781	52	R>W		No	ClinGen TOPMed gnomAD
rs1251091650 CA411445033	56	C>Y		No	ClinGen gnomAD
CA324106413 rs763628416	59	G>A		No	ClinGen Ensembl
CA10221692 rs766699361	59	G>C		No	ClinGen ExAC gnomAD
rs1426811096 CA411445079	60	Q>*		No	ClinGen gnomAD
CA411445088 rs1465069037	60	Q>H		No	ClinGen gnomAD
rs755212956 CA411445102	61	S>R		No	ClinGen ExAC TOPMed
rs754056040 CA10221693	61	S>T		No	ClinGen ExAC TOPMed
CA411445106 CA324106422 rs932590300	62	G>R		No	ClinGen TOPMed gnomAD
CA411445113 rs372022824	63	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10221695 rs372022824	63	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1221308536 CA411445139	65	M>V		No	ClinGen TOPMed
rs752753472 CA10221696	67	K>E		No	ClinGen ExAC gnomAD
CA324106449 rs993947291	68	R>P		No	ClinGen TOPMed gnomAD
CA324106434 rs993947291	68	R>Q		No	ClinGen TOPMed gnomAD
CA411445191 rs1308020239	68	R>W		No	ClinGen TOPMed gnomAD
rs1601580174 CA411445205	69	V>G		No	ClinGen Ensembl
rs761146554 CA411445285	70	K>R		No	ClinGen ExAC TOPMed gnomAD
CA10221710 rs761146554	70	K>T		No	ClinGen ExAC TOPMed gnomAD
CA411445291 rs1472158275	71	K>E		No	ClinGen gnomAD
rs1227811304 CA411445307	72	L>F		No	ClinGen gnomAD
rs1360093674 CA411445341	75	M>V		No	ClinGen gnomAD
rs1224349128 CA411445362	76	A>V		No	ClinGen TOPMed gnomAD
rs759680403 CA10221713	78	S>P		No	ClinGen ExAC gnomAD
CA10221714 rs531655594	80	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA10221715 rs752740665	81	M>I		No	ClinGen ExAC gnomAD
rs1446972042 CA411445385	81	M>V		No	ClinGen gnomAD
CA411445412 rs1343171447	84	S>G		No	ClinGen TOPMed
rs1299784026 CA411445451	86	K>N		No	ClinGen TOPMed
rs764235580 CA10221717	89	D>N		No	ClinGen ExAC gnomAD
rs751608628 CA10221718	89	D>V		No	ClinGen ExAC gnomAD
CA411445499 rs1459170793	90	P>L		No	ClinGen gnomAD
CA411445505 rs1337480421	91	D>N		No	ClinGen gnomAD
CA10221720 rs143928740	93	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1471042276 CA411445563	95	G>E		No	ClinGen TOPMed
rs1361993385 CA411445682	101	S>T		No	ClinGen gnomAD
CA411445697 rs1601581427	102	C>Y		No	ClinGen Ensembl
CA10221759 rs573891662	109	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs764817836 CA10221760	110	R>C		No	ClinGen ExAC gnomAD
rs752231031 CA10221761	110	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752231031 CA411445804	110	R>L		No	ClinGen ExAC TOPMed gnomAD
CA411445803 rs752231031	110	R>P		No	ClinGen ExAC TOPMed gnomAD
CA411445842 rs1242947106	114	E>K		No	ClinGen gnomAD
rs541227570 CA10221764	117	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1365525277 CA411445941	121	R>K		No	ClinGen TOPMed
rs1388175864 CA411445952	122	D>H		No	ClinGen TOPMed gnomAD
CA411445950 rs1388175864	122	D>N		No	ClinGen TOPMed gnomAD
CA10221767 rs749624857	123	V>I		No	ClinGen ExAC gnomAD
CA10221769 rs769032023	124	L>V		No	ClinGen ExAC gnomAD
rs1569005624 CA411445987	125	Q>*		No	ClinGen Ensembl
CA324107557 rs1028003972	125	Q>H		No	ClinGen TOPMed gnomAD
CA10221771 rs748361378	126	P>A		No	ClinGen ExAC TOPMed
CA411446025 rs1317961131	128	S>G		No	ClinGen TOPMed gnomAD
rs1317961131 CA411446024	128	S>R		No	ClinGen TOPMed gnomAD
CA10221772 rs772253403	130	L>V		No	ClinGen ExAC gnomAD
CA10221801 rs775201597	134	E>*		No	ClinGen ExAC gnomAD
CA10221802 rs762683285	134	E>V		No	ClinGen ExAC gnomAD
CA411446176 rs1346398580	136	P>S		No	ClinGen gnomAD
CA10221805 rs761270092	139	L>V		No	ClinGen ExAC TOPMed gnomAD
rs754455477 CA10221807	140	K>E		No	ClinGen ExAC gnomAD
rs1250528872 CA411446277	143	K>E		No	ClinGen gnomAD
rs1241716899 CA411446306	145	L>F		No	ClinGen TOPMed
CA324107767 rs373895337	145	L>H		No	ClinGen Ensembl
rs1480558093 CA411446320	146	Q>R		No	ClinGen gnomAD
rs752945083 CA10221810	148	L>F		No	ClinGen ExAC TOPMed gnomAD
rs752945083 CA411446341	148	L>V		No	ClinGen ExAC TOPMed gnomAD
CA411446355 rs1168962762	149	V>A		No	ClinGen gnomAD
CA10221811 rs367668478	149	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10221812 rs777817958	150	S>F		No	ClinGen ExAC gnomAD
rs1307811453 CA411446368	151	D>N		No	ClinGen TOPMed gnomAD
CA324107791 rs760095428	153	N>I		No	ClinGen gnomAD
CA411446426 rs1388728146	155	L>F		No	ClinGen TOPMed gnomAD
rs1040906963 CA324107794	157	S>G		No	ClinGen Ensembl
rs139112175 CA324107799	157	S>N		No	ClinGen ESP TOPMed gnomAD
CA10221815 rs781233711	158	R>G		No	ClinGen ExAC
rs1330562582 CA411446469	158	R>M		No	ClinGen gnomAD
CA411446520 rs1406872712	159	L>F		No	ClinGen TOPMed
CA324108343 rs749010616	160	S>T		No	ClinGen Ensembl
CA10221846 rs775906210	162	A>T		No	ClinGen ExAC gnomAD
rs1161715115 CA411446550	163	T>I		No	ClinGen gnomAD
CA324108354 rs932471890	164	K>N		No	ClinGen Ensembl
CA411446555 rs1456810585	164	K>R		No	ClinGen gnomAD
CA324108362 rs770363885	168	S>G		No	ClinGen Ensembl
CA10221847 rs763498650	168	S>I		No	ClinGen ExAC gnomAD
rs1463182405 CA411446593	170	Q>*		No	ClinGen gnomAD
rs1190051965 CA411446599	170	Q>H		No	ClinGen gnomAD
CA10221848 rs764430917	171	G>D		No	ClinGen ExAC gnomAD
rs1242350643 CA411446600	171	G>S		No	ClinGen TOPMed gnomAD
CA324108374 rs372208358	172	L>I		No	ClinGen ESP
CA411446608 rs1178322144	172	L>R		No	ClinGen TOPMed
rs1228597309 CA411446621	175	S>C		No	ClinGen gnomAD
CA324108381 rs915111725	176	P>L		No	ClinGen TOPMed gnomAD
rs915111725 CA324108375	176	P>R		No	ClinGen TOPMed gnomAD
rs1439445557 CA411446631	176	P>S		No	ClinGen TOPMed
CA411446636 rs1257032452	177	G>D		No	ClinGen gnomAD
rs1180685128 CA411446645	178	S>T		No	ClinGen gnomAD
CA411446666 rs1569006289	179	H>Q		No	ClinGen Ensembl
CA411446662 rs1255880787	179	H>R		No	ClinGen TOPMed gnomAD
rs746338687 CA411446709	182	T>K		No	ClinGen ExAC TOPMed gnomAD
rs746338687 CA10221852	182	T>M		No	ClinGen ExAC TOPMed gnomAD
CA411446736 rs1158482046	184	M>T		No	ClinGen gnomAD
CA10221855 rs749252140	188	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10221856 rs754878944	189	E>K		No	ClinGen ExAC gnomAD
rs149928566 CA10221857	190	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1383822655 CA411446837	192	K>E		No	ClinGen TOPMed
CA411446850 rs1410239447	192	K>N		No	ClinGen gnomAD
rs1289780058 CA411446857	193	E>*		No	ClinGen gnomAD
CA411446897 rs1348247101	196	E>K		No	ClinGen gnomAD
rs1435496568 CA411446928	198	L>V		No	ClinGen gnomAD
rs746636696 CA10221862	200	R>K		No	ClinGen ExAC gnomAD
rs776197576 CA10221864	203	E>G		No	ClinGen ExAC gnomAD
CA411446993 rs1160402068	203	E>Q		No	ClinGen TOPMed
CA10221882 rs745345551	207	D>G		No	ClinGen ExAC gnomAD
CA10221885 rs377439634	208	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10221884 rs774890820	208	E>K		No	ClinGen ExAC gnomAD
rs532673039 CA10221889	219	K>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1292434496 CA411447397	221	D>N		No	ClinGen gnomAD
rs370267463 CA411447408	222	S>C		No	ClinGen ESP TOPMed gnomAD
rs370267463 CA324109291	222	S>F		No	ClinGen ESP TOPMed gnomAD
rs1296097770 CA411447414	223	Y>C		No	ClinGen gnomAD
CA10221891 rs753893612	226	Y>C		No	ClinGen ExAC gnomAD
rs759700144 CA10221892	227	F>V		No	ClinGen ExAC gnomAD
rs1292222568 CA411447454	229	R>C		No	ClinGen gnomAD
CA10221893 rs75205413	229	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757127419 CA10221915	232	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA411448248 rs1601583273	233	I>V		No	ClinGen Ensembl
CA411448266 rs960519170	234	Q>*		No	ClinGen TOPMed
rs960519170 CA324109451	234	Q>E		No	ClinGen TOPMed
rs188125627 CA10221917	236	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411448401 rs1601583291	238	H>R		No	ClinGen Ensembl
CA10221918 rs755655760	239	R>G		No	ClinGen ExAC gnomAD
CA10221919 rs779554139	239	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10221920 rs748748989	240	R>G		No	ClinGen ExAC gnomAD
rs1287570896 CA411448486	240	R>S		No	ClinGen TOPMed gnomAD
rs1226861104 CA411448478	240	R>T		No	ClinGen gnomAD
rs1023467420 CA324109471	241	S>P		No	ClinGen gnomAD
rs1023467420 CA411448495	241	S>T		No	ClinGen gnomAD
rs1219709974 CA411448602	244	S>L		No	ClinGen TOPMed gnomAD
rs371346678 CA10221924	248	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371346678 CA10221925	248	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10221927 rs573023753	250	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs573023753 CA10221926	250	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA411448936 rs146007366	256	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10221930 rs139912442	257	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774409071 CA10221931	258	Q>L		No	ClinGen ExAC gnomAD
rs752090628 CA10221960	260	D>A		No	ClinGen ExAC gnomAD
CA411449239 rs1012974124	260	D>E		No	ClinGen Ensembl
rs781509346 CA10221962	261	H>Q		No	ClinGen ExAC gnomAD
rs143343115 CA10221961	261	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1165156118 CA411449249	261	H>Y		No	ClinGen TOPMed gnomAD
rs750926872 CA10221963	263	P>T		No	ClinGen ExAC gnomAD
CA324109956 rs756606181	264	S>L		No	ClinGen ExAC TOPMed gnomAD
CA10221964 rs756606181	264	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1348074334 CA411449374	265	M>T		No	ClinGen TOPMed
CA10221966 rs749525835	266	T>A		No	ClinGen ExAC TOPMed gnomAD
rs768706686 CA10221967	267	A>G		No	ClinGen ExAC gnomAD
CA411449389 rs1601583786	268	T>P		No	ClinGen Ensembl
CA10221969 rs748140369	269	H>P		No	ClinGen ExAC gnomAD
rs779076656 CA10221968	269	H>Y		No	ClinGen ExAC gnomAD
CA10221970 rs753665837	270	F>L		No	ClinGen ExAC gnomAD
rs146702128 CA10221971	271	P>S		No	ClinGen ESP ExAC gnomAD
rs1569007390 CA411449420	273	V>M		No	ClinGen Ensembl
CA10221973 rs770776481	276	V>M		No	ClinGen ExAC TOPMed gnomAD
rs776337354 CA10221974	277	S>L		No	ClinGen ExAC TOPMed gnomAD
CA10221977 rs752281628	280	T>N		No	ClinGen ExAC TOPMed gnomAD
CA411449461 rs1601583823	280	T>P		No	ClinGen Ensembl
rs538215145 CA10221979	284	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1472919978 CA411449494	285	L>V		No	ClinGen gnomAD
CA411449502 rs1161451254	286	G>S		No	ClinGen gnomAD
CA10221981 rs140149865	287	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10221982 rs538357864	287	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538357864 CA10221983	287	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10221980 rs140149865	287	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA324110059 rs996031068	290	A>T		No	ClinGen TOPMed gnomAD
rs1402598329 CA411449588	292	P>S		No	ClinGen gnomAD
CA324110062 rs779047496	293	I>M		No	ClinGen ExAC TOPMed gnomAD
CA324110063 rs1030018800	294	E>K		No	ClinGen Ensembl
CA10221988 rs777822009	297	V>I		No	ClinGen ExAC gnomAD
rs1314667640 CA411449700	299	M>I		No	ClinGen gnomAD
CA324110090 rs764775754	302	S>F		No	ClinGen Ensembl
rs1242096543 CA411449768	305	M>I		No	ClinGen TOPMed
rs770792944 CA10221990	305	M>V		No	ClinGen ExAC gnomAD
rs1484408631 CA411449792	308	E>D		No	ClinGen TOPMed gnomAD
rs1430203568 CA411449947	309	G>V		No	ClinGen gnomAD
rs147184032 CA10222011	310	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA324111154 rs866952782	312	R>H		No	ClinGen TOPMed gnomAD
rs1168368488 CA411450023	313	L>P		No	ClinGen gnomAD
CA411450045 rs1293589697	314	A>V		No	ClinGen gnomAD
rs377648897 CA10222013	315	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA324111170 rs868490403	318	S>L		No	ClinGen TOPMed gnomAD
CA411450121 rs1271069528	319	V>M		No	ClinGen gnomAD
CA411450175 rs1222666352	321	K>N		No	ClinGen TOPMed gnomAD
rs1243293262 CA411450167	321	K>R		No	ClinGen TOPMed
CA411450164 rs1243293262	321	K>T		No	ClinGen TOPMed
CA10222016 rs774033404	322	R>C		No	ClinGen ExAC TOPMed gnomAD
CA324111206 rs774033404	322	R>G		No	ClinGen ExAC TOPMed gnomAD
CA324111235 rs369441025	322	R>H		No	ClinGen ESP TOPMed gnomAD
CA10222017 rs374519297	323	L>F		No	ClinGen ESP ExAC gnomAD
rs1252322728 CA411450233	324	K>R		No	ClinGen gnomAD
CA10222018 rs377702957	326	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA411450275 rs371430108	326	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10222019 rs371430108	326	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA411450288 rs1427530525	327	M>V		No	ClinGen gnomAD
rs144888585 CA10222020	329	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373775839 CA411450341	331	P>A		No	ClinGen ESP gnomAD
rs753044011 CA10222022	331	P>H		No	ClinGen ExAC gnomAD
rs373775839 CA324111268	331	P>S		No	ClinGen ESP gnomAD
CA411450425 rs1294971750	335	E>V		No	ClinGen gnomAD
CA411450438 rs1361758985	336	E>K		No	ClinGen TOPMed gnomAD
CA411450494 rs1315146100	338	C>Y		No	ClinGen TOPMed gnomAD
CA10222024 rs149019286	339	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs865821399 CA324112756	340	D>E		No	ClinGen gnomAD
CA10222026 rs535814969	340	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA324112763 rs891520488	341	P>A		No	ClinGen TOPMed
rs757375237 CA10222027	341	P>L		No	ClinGen ExAC TOPMed gnomAD
CA411451520 rs757375237	341	P>R		No	ClinGen ExAC TOPMed gnomAD
rs867882050 CA324112796	343	A>S		No	ClinGen gnomAD
rs867882050 CA411451557	343	A>T		No	ClinGen gnomAD
CA411451827 rs1282175330	346	G>D		No	ClinGen gnomAD
CA411451866 rs1209658415	348	L>F		No	ClinGen gnomAD
rs1363718467 CA411451895	349	K>R		No	ClinGen gnomAD
CA324113163 rs373445412	350	S>T		No	ClinGen ESP
rs770315189 CA10222059	351	Y>C		No	ClinGen ExAC gnomAD
rs377396992 CA10222058	351	Y>N		No	ClinGen ESP ExAC gnomAD
CA10222062 rs763435854	353	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA411452136 rs1196099381	360	M>I		No	ClinGen gnomAD
rs1383114339 CA411452185	363	D>N		No	ClinGen TOPMed gnomAD
CA411452210 rs1169397933	364	L>I		No	ClinGen gnomAD
CA411452218 rs1601585565	364	L>P		No	ClinGen Ensembl
CA411452233 rs1408500658	365	Y>C		No	ClinGen gnomAD
CA411452259 rs1301072124	366	D>G		No	ClinGen gnomAD
rs1328258930 CA411452247	366	D>H		No	ClinGen gnomAD
rs1328258930 CA411452253	366	D>N		No	ClinGen gnomAD
rs774641420 CA10222064	367	D>E		No	ClinGen ExAC
CA10222065 rs762045914	368	W>C		No	ClinGen ExAC gnomAD
rs1475980337 CA411452371	370	R>G		No	ClinGen TOPMed
rs1305577096 CA411452391	371	A>T		No	ClinGen gnomAD
CA10222068 rs750580039	372	A>G		No	ClinGen ExAC TOPMed gnomAD
CA10222067 rs750580039	372	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10222092 rs376748177	377	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10222093 rs752646479	378	G>E		No	ClinGen ExAC gnomAD
CA10222095 rs763783835	379	A>P		No	ClinGen ExAC TOPMed gnomAD
CA411452590 rs1162875341	380	R>G		No	ClinGen gnomAD
CA10222096 rs751290314	380	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA411452691 rs1002955661	387	V>A		No	ClinGen TOPMed gnomAD
CA324113472 rs1002955661	387	V>G		No	ClinGen TOPMed gnomAD
CA411452687 rs1289404091	387	V>M		No	ClinGen gnomAD
CA411452725 rs1350473204	390	R>C		No	ClinGen TOPMed
CA411452727 rs1317111545	390	R>H		No	ClinGen gnomAD
CA411452751 rs1234809958	392	P>H		No	ClinGen TOPMed gnomAD
CA411452756 rs1234809958	392	P>L		No	ClinGen TOPMed gnomAD
rs780778713 CA10222098	392	P>S		No	ClinGen ExAC gnomAD
CA10222099 rs745344570	393	P>A		No	ClinGen ExAC TOPMed gnomAD
CA10222100 rs755591073	393	P>L		No	ClinGen ExAC gnomAD
CA411452760 rs745344570	393	P>S		No	ClinGen ExAC TOPMed gnomAD
CA324113506 rs745344570	393	P>T		No	ClinGen ExAC TOPMed gnomAD
CA10222102 rs748644656	394	E>K		No	ClinGen ExAC TOPMed gnomAD
CA411452817 rs773386030	396	L>F		No	ClinGen ExAC gnomAD
CA10222104 rs773386030	396	L>V		No	ClinGen ExAC gnomAD
CA411452841 rs747265172	397	S>I		No	ClinGen ExAC TOPMed gnomAD
CA10222105 rs747265172	397	S>N		No	ClinGen ExAC TOPMed gnomAD
CA10222106 rs771007940	398	N>S		No	ClinGen ExAC gnomAD
CA10222107 rs776877157	399	L>F		No	ClinGen ExAC TOPMed gnomAD
rs776877157 CA324113554	399	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1455371136 CA411453065	403	M>I		No	ClinGen gnomAD
rs1034080427 CA324114218	403	M>T		No	ClinGen TOPMed gnomAD
CA10222131 rs540884830	407	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs750147353 CA411453110	408	R>L		No	ClinGen ExAC TOPMed gnomAD
rs750147353 CA10222133	408	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10222132 rs767287967	408	R>W		No	ClinGen ExAC TOPMed gnomAD
CA324114280 rs559771452	411	E>*		No	ClinGen 1000Genomes
CA10222135 rs533250202	411	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA411453155 rs1601586618	415	V>G		No	ClinGen Ensembl
CA411453152 rs753235435	415	V>L		No	ClinGen ExAC gnomAD
rs753235435 CA10222136	415	V>M		No	ClinGen ExAC gnomAD
rs1427200710 CA411453185	419	T>I		No	ClinGen TOPMed
rs1216509901 CA411453200	421	S>R		No	ClinGen gnomAD
rs1184067418 CA411453211	423	I>V		No	ClinGen TOPMed
rs778178997 CA10222138	427	L>Q		No	ClinGen ExAC gnomAD
CA411453240 rs1233983333	428	G>R		No	ClinGen gnomAD
rs886768294 CA324114347	430	N>I		No	ClinGen Ensembl
CA324114352 rs962231963	433	W>R		No	ClinGen TOPMed
CA411453290 rs1245884548	435	P>L		No	ClinGen gnomAD
rs757754035 CA10222141	439	G>R		No	ClinGen ExAC TOPMed gnomAD
rs972757997 CA324114365	439	G>V		No	ClinGen TOPMed
CA411454229 rs1347807940	440	D>E		No	ClinGen TOPMed
CA10222170 rs773018826	440	D>N		No	ClinGen ExAC gnomAD
rs1414437785 CA411454242	441	Q>E		No	ClinGen gnomAD
rs924153197 CA324115763	443	Q>*		No	ClinGen TOPMed gnomAD
rs1174608759 CA411454302	443	Q>H		No	ClinGen gnomAD
rs146664648 CA10222171	444	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs977706115 CA324115780	446	A>V		No	ClinGen Ensembl
CA10222175 rs764655947	449	V>A		No	ClinGen ExAC gnomAD
CA411454457 rs759221673	449	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10222174 rs759221673	449	V>M		No	ClinGen ExAC TOPMed gnomAD
CA411454485 rs1320062043	450	S>F		No	ClinGen TOPMed gnomAD
CA411454586 rs1464042322	453	Q>H		No	ClinGen TOPMed
CA10222180 rs756606271	457	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1461869892 CA411454717	458	V>A		No	ClinGen gnomAD
CA10222182 rs754015130	458	V>I		No	ClinGen ExAC TOPMed gnomAD
rs778886135 CA10222185	459	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10222184 rs778886135	459	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1326335153 CA411454754	460	A>S		No	ClinGen TOPMed
CA10222187 rs777732036	460	A>V		No	ClinGen ExAC gnomAD
CA411454781 rs1397799582	461	L>P		No	ClinGen gnomAD
CA10222190 rs776419469	463	Q>E		No	ClinGen ExAC gnomAD
rs1235628410 CA411454880	464	S>R		No	ClinGen TOPMed gnomAD
CA10222192 rs73422755	465	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs73422755 CA10222191	465	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774893634 CA10222193	466	D>G		No	ClinGen ExAC gnomAD
CA411454906 rs1206086942	466	D>N		No	ClinGen gnomAD
CA10222194 rs762602517	467	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1601588131 CA411454926	467	T>P		No	ClinGen Ensembl
CA10222195 rs762602517	467	T>S		No	ClinGen ExAC TOPMed gnomAD
CA324115984 rs867838399	470	P>L		No	ClinGen Ensembl
CA10222197 rs773925290	471	G>A		No	ClinGen ExAC gnomAD
rs773925290 CA10222196	471	G>E		No	ClinGen ExAC gnomAD
CA10222222 rs751588395	473	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10222223 rs368860633	476	N>D		No	ClinGen ESP ExAC gnomAD
rs909944190 CA324116408	476	N>S		No	ClinGen TOPMed
CA10222225 rs750314857	477	V>E		No	ClinGen ExAC gnomAD
rs781229157 CA10222224	477	V>M		No	ClinGen ExAC TOPMed gnomAD
CA411455376 rs1601588454	485	T>P		No	ClinGen Ensembl
rs1239939444 CA411455460	488	D>E		No	ClinGen gnomAD
CA324116485 rs900419842	488	D>G		No	ClinGen TOPMed gnomAD
rs1190078197 CA411455434	488	D>H		No	ClinGen TOPMed
rs1456439130 CA411455471	489	T>I		No	ClinGen gnomAD
CA324116511 rs931931282	491	S>G		No	ClinGen TOPMed
rs1601588488 CA411455556	495	A>G		No	ClinGen Ensembl
rs747738248 CA10222231	499	L>F		No	ClinGen ExAC gnomAD
CA10222232 rs372999039	500	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA411455711 rs1225129948	502	T>I		No	ClinGen TOPMed
rs1300353031 CA411455727	503	A>V		No	ClinGen TOPMed gnomAD
CA10222236 rs775772219	504	V>A		No	ClinGen ExAC TOPMed gnomAD
rs141462749 CA411455736	504	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs141462749 CA10222235	504	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA324116576 rs766570744	505	P>R		No	ClinGen gnomAD
rs1569010417 CA411455760	505	P>T		No	ClinGen Ensembl
rs763182883 CA10222237	506	T>P		No	ClinGen ExAC gnomAD
CA10222239 rs774524936	507	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764259923 CA10222238	507	P>S		No	ClinGen ExAC gnomAD
rs999131319 CA324116612	508	A>T		No	ClinGen TOPMed
rs1446694445 CA411455837	509	T>A		No	ClinGen TOPMed
rs762011401 CA10222240	509	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1446694445 CA411455834	509	T>P		No	ClinGen TOPMed
CA10222246 rs929038 VAR_033450	511	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1156427281 CA411455873	512	A>P		No	ClinGen Ensembl
CA10222249 rs142801645	513	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411455888 rs142801645	513	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs984531334 CA324116643	513	P>S		No	ClinGen Ensembl
CA10222251 rs149544774	515	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146035915 CA10222252	515	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747739013 CA10222257	516	A>S		No	ClinGen ExAC gnomAD
CA411455939 rs1339290731	517	P>A		No	ClinGen TOPMed
rs757990267 CA10222259	517	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1171872633 CA411455950	518	A>P		No	ClinGen gnomAD
CA411455947 rs1171872633	518	A>T		No	ClinGen gnomAD
rs775862093 CA10222263	519	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1569010552 CA411455979	520	A>V		No	ClinGen Ensembl
rs370571483 CA10222266	521	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370571483 CA411455991	521	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs12170939 CA10222265	521	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10222268 rs146231662	523	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA411456078 rs1261537224	529	A>G		No	ClinGen TOPMed
CA10222270 rs760728288	529	A>T		No	ClinGen ExAC TOPMed gnomAD
CA411456087 rs1217887285	530	T>S		No	ClinGen gnomAD
rs766462729 CA10222272	531	K>N		No	ClinGen ExAC gnomAD
CA324119757 rs1002522155	533	R>S		No	ClinGen TOPMed gnomAD
CA324119770 rs566099083	535	E>Q		No	ClinGen 1000Genomes
CA10222293 rs771125702	536	S>P		No	ClinGen ExAC TOPMed gnomAD
CA411457575 rs1425079659	536	S>Y		No	ClinGen gnomAD
CA324119780 rs1055444592	537	E>D		No	ClinGen Ensembl
CA411457590 rs1441844812	537	E>G		No	ClinGen TOPMed
rs1441947224 CA411457598	538	V>M		No	ClinGen gnomAD
rs1601591072 CA411457657	541	R>S		No	ClinGen Ensembl
CA324119791 rs759476815	542	P>L		No	ClinGen ExAC TOPMed gnomAD
rs759476815 CA10222295	542	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA10222294 rs376172045	542	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1435640584 CA411457682	543	A>V		No	ClinGen gnomAD
rs995220220 CA324119797	545	P>T		No	ClinGen Ensembl
CA411457727 rs762695862	546	K>R		No	ClinGen ExAC gnomAD
rs762695862 CA10222298	546	K>T		No	ClinGen ExAC gnomAD
CA411457735 rs1302203306	547	V>I		No	ClinGen TOPMed gnomAD
CA411457751 rs1394331011	548	T>N		No	ClinGen gnomAD
CA10222300 rs751189664	550	S>I		No	ClinGen ExAC gnomAD
rs756817806 CA411457766 CA10222301	550	S>R		No	ClinGen ExAC gnomAD
rs373477637 CA324119836	551	P>A		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA10222303 rs373477637	551	P>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA10222302 rs373477637	551	P>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA10222304 rs376373953	552	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA411457780 rs1209962143	553	E>K		No	ClinGen TOPMed gnomAD
CA411457806 rs1233972631	554	T>A		No	ClinGen gnomAD
rs1459532071 CA411457811	554	T>R		No	ClinGen TOPMed gnomAD
CA411457878 rs1601591160	558	V>G		No	ClinGen Ensembl
CA10222309 rs1040934535	563	R>Q		No	ClinGen TOPMed gnomAD
rs370150817 CA10222307	563	R>W		No	ClinGen ESP ExAC gnomAD
CA10222310 rs200641197	564	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1211988184 CA411459615	565	T>N		No	ClinGen TOPMed gnomAD
rs1288228898 CA411459624	566	K>E		No	ClinGen gnomAD
rs781450381 CA10222330	566	K>N		No	ClinGen ExAC gnomAD
rs745983339 CA10222331	567	R>C		No	ClinGen ExAC gnomAD
CA10222332 rs769894481	567	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10222333 rs769894481	567	R>L		No	ClinGen ExAC TOPMed gnomAD
rs768349095 CA10222335	568	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA324122832 rs768349095	568	P>R		No	ClinGen ExAC TOPMed gnomAD
CA10222337 rs761485751	569	A>T		No	ClinGen ExAC gnomAD
CA10222338 rs202044430	569	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10222339 rs772831816	570	P>L		No	ClinGen ExAC gnomAD
CA411459755 rs765912609	572	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10222341 rs765912609	572	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1361818177 CA411459745	572	R>W		No	ClinGen gnomAD
rs200015398 CA10222343	575	M>V		No	ClinGen ESP ExAC gnomAD
rs764572879 CA10222344	576	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764572879 CA411459835	576	P>R		No	ClinGen ExAC TOPMed gnomAD
CA10222348 rs757668214	577	P>H		No	ClinGen ExAC gnomAD
rs1247622233 CA411459852	577	P>T		No	ClinGen TOPMed
CA10222350 rs746090811	578	P>H		No	ClinGen ExAC gnomAD
rs746090811 CA10222351	578	P>L		No	ClinGen ExAC gnomAD
CA10222349 rs781615939	578	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411459874 rs780124622	579	Q>*		No	ClinGen ExAC TOPMed
CA411459876 rs780124622	579	Q>E		No	ClinGen ExAC TOPMed
rs780124622 CA10222352	579	Q>K		No	ClinGen ExAC TOPMed
rs938412689 CA324122947	579	Q>P		No	ClinGen TOPMed gnomAD
rs70950549	579	Q>R	Variant assessed as Somatic; 7.95e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs1601592183 CA411459909	580	V>G		No	ClinGen Ensembl
rs140157584 CA411459942	582	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10222354 rs140157584	582	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411459958 rs1601592195	583	S>P		No	ClinGen Ensembl
rs774239167 CA10222355	584	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10222356 rs199695574	584	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10222357 rs199695574	584	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1472343716 CA411460024	585	S>C		No	ClinGen TOPMed gnomAD
rs1472343716 CA411460026	585	S>F		No	ClinGen TOPMed gnomAD
rs1601592208 CA411460018	585	S>P		No	ClinGen Ensembl
CA10222358 rs772912475	586	S>C		No	ClinGen ExAC TOPMed gnomAD
CA411460040 rs772912475	586	S>F		No	ClinGen ExAC TOPMed gnomAD
CA411460033 rs1601592213	586	S>P		No	ClinGen Ensembl
CA411460056 rs1417533209	587	P>L		No	ClinGen gnomAD
rs760304563 CA10222359	587	P>S		No	ClinGen ExAC TOPMed gnomAD
CA411460077 rs1601592238	588	P>L		No	ClinGen Ensembl
TCGA novel	588	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1402334535 CA411460083	589	A>D		No	ClinGen gnomAD
TCGA novel	589	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10222361 rs776161224	590	P>L		No	ClinGen ExAC gnomAD
CA411460092 rs1398254767	590	P>S		No	ClinGen gnomAD
rs113675586 CA324123025	592	L>F		No	ClinGen TOPMed
CA411460137 rs1311997271	593	P>L		No	ClinGen gnomAD
CA411460135 rs1311997271	593	P>R		No	ClinGen gnomAD
rs1241322265 CA411460132	593	P>S		No	ClinGen gnomAD
rs1351757972 CA411460144	594	P>H		No	ClinGen gnomAD
TCGA novel	594	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239750510 CA411460167	596	S>C		No	ClinGen gnomAD
rs1256627815 CA411460177	597	G>C		No	ClinGen gnomAD
rs1484292584 CA411460197	599	P>S		No	ClinGen TOPMed gnomAD
CA411460195 rs1484292584	599	P>T		No	ClinGen TOPMed gnomAD
rs1202039333 CA411460212	600	G>E		No	ClinGen TOPMed gnomAD
CA411460225 rs1277370091	601	T>I		No	ClinGen TOPMed
CA411460217 rs1601592312	601	T>P		No	ClinGen Ensembl
rs1206585092 CA411460232	602	P>S		No	ClinGen TOPMed
rs1272948846 CA411460246	603	Q>P		No	ClinGen TOPMed
rs764740714 CA10222363	604	A>D		No	ClinGen ExAC gnomAD
TCGA novel	604	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411460283 rs1437393080	606	P>L		No	ClinGen gnomAD
CA10222364 rs752092471	607	R>*		No	ClinGen ExAC gnomAD
CA411460291 rs1377640967	607	R>Q		No	ClinGen TOPMed gnomAD
CA10222365 rs757756122	608	R>C		No	ClinGen ExAC TOPMed gnomAD
rs372201843 CA10222366	608	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372201843 CA411460305	608	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1402105371 CA411460328	611	G>S		No	ClinGen TOPMed gnomAD
CA411460393 rs1283217048	615	R>*		No	ClinGen TOPMed gnomAD
rs964829245 CA324123061	615	R>Q		No	ClinGen TOPMed gnomAD
rs756310269 CA10222368	616	A>D		No	ClinGen ExAC TOPMed gnomAD
rs756310269 CA411460409	616	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10222369 rs780028183	618	T>I		No	ClinGen ExAC TOPMed gnomAD
rs915570869 CA324123078	618	T>P		No	ClinGen gnomAD
rs1231140187 CA411460467	621	P>H		No	ClinGen gnomAD
rs1464654058 CA411460482	622	P>L		No	ClinGen TOPMed gnomAD
rs1464654058 CA411460479	622	P>Q		No	ClinGen TOPMed gnomAD
rs1601592412 CA411460498	623	L>F		No	ClinGen Ensembl
rs1569012926 CA411460509	624	P>R		No	ClinGen Ensembl
CA411460512 rs771855690	625	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1456287326 CA411460513	625	P>H		No	ClinGen gnomAD
CA10222374 rs771855690	625	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10222376 rs746666815	626	T>I		No	ClinGen ExAC gnomAD
CA324123125 rs897746900	626	T>P		No	ClinGen TOPMed gnomAD
rs770581410 CA10222377	627	P>A		No	ClinGen ExAC gnomAD
rs776118806 CA10222378	627	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10222380 rs769416559	631	A>V		No	ClinGen ExAC gnomAD
CA10222381 rs775065930	632	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1294557301 CA411460589	632	R>W		No	ClinGen TOPMed gnomAD
CA10222382 rs762343713	633	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10222383 rs768016525	633	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411460604 rs768016525	633	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10222384 rs750758422	634	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA10222387 rs766671628	636	R>L		No	ClinGen ExAC gnomAD
CA10222386 rs766671628	636	R>Q		No	ClinGen ExAC gnomAD
CA10222385 rs760915773	636	R>W		No	ClinGen ExAC gnomAD
rs1472327496 CA411460664	637	R>C		No	ClinGen TOPMed
CA411460670 rs1203550633	637	R>H		No	ClinGen TOPMed gnomAD
CA411460691 rs1265851790	638	S>L		No	ClinGen gnomAD
rs1189117108 CA411460750	640	A>G		No	ClinGen gnomAD
rs1477862635 CA411460781	641	S>C		No	ClinGen gnomAD
rs1267505009 CA411460768	641	S>T		No	ClinGen gnomAD
rs752641482 CA10222392	642	P>S		No	ClinGen ExAC gnomAD
rs1165904375 CA411460822	643	S>G		No	ClinGen TOPMed gnomAD
CA411460879 rs1456547990	644	P>L		No	ClinGen TOPMed gnomAD
rs1401908853 CA411460929	646	S>F		No	ClinGen gnomAD
rs369221850 CA10222396	647	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10222397 rs770611733	648	G>S		No	ClinGen ExAC TOPMed gnomAD
rs780956961 CA10222398	650	A>S		No	ClinGen ExAC gnomAD
CA10222399 rs745511464	651	S>Y		No	ClinGen ExAC gnomAD
CA10222400 rs769434685	653	S>T		No	ClinGen ExAC
CA411461122 rs1290590143	655	V>A		No	ClinGen gnomAD
rs2269548 VAR_033451 CA324123429	656	S>F		No	ClinGen UniProt TOPMed dbSNP
rs775082530 CA10222402	658	S>N		No	ClinGen ExAC gnomAD
CA324123446 rs1052013428	659	N>T		No	ClinGen Ensembl
rs762441560 CA411461282	660	P>A		No	ClinGen ExAC gnomAD
CA10222404 rs772745111	660	P>L		No	ClinGen ExAC gnomAD
CA10222403 rs762441560	660	P>T		No	ClinGen ExAC gnomAD
rs761157170 CA411461330	661	A>G		No	ClinGen ExAC TOPMed gnomAD
CA411461318 rs1422449243	661	A>T		No	ClinGen gnomAD
CA10222406 rs761157170	661	A>V		No	ClinGen ExAC TOPMed gnomAD
CA324123469 rs867130235	662	Q>K		No	ClinGen Ensembl
rs1391064234 CA411461377	663	V>M		No	ClinGen TOPMed
CA10222408 rs754092411	664	D>G		No	ClinGen ExAC gnomAD
rs890323771 CA324123508	665	L>R		No	ClinGen gnomAD
CA10222409 rs373723635	666	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs765319549 CA411461486	667	A>P		No	ClinGen ExAC TOPMed gnomAD
CA10222410 rs765319549	667	A>T		No	ClinGen ExAC TOPMed gnomAD
CA411461624 rs1314166847	673	G>E		No	ClinGen gnomAD
CA10222411 rs752737899	673	G>R		No	ClinGen ExAC gnomAD
rs1241904633 CA411461697	677	A>G		No	ClinGen TOPMed gnomAD
CA411461686 rs1353949106	677	A>T		No	ClinGen gnomAD
rs1241904633 CA411461699	677	A>V		No	ClinGen TOPMed gnomAD
rs907087891 CA324123530	680	G>R		No	ClinGen TOPMed gnomAD
rs202113963 CA411461807	683	T>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs202113963 CA324123560	683	T>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs202113963 CA324123569	683	T>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA324123579 rs751441744	684	P>A		No	ClinGen ExAC TOPMed gnomAD
CA10222415 rs751441744	684	P>S		No	ClinGen ExAC TOPMed gnomAD
rs375920273 CA324123594	686	A>V		No	ClinGen ESP TOPMed gnomAD
rs1298597382 CA411461912	688	P>L		No	ClinGen TOPMed
rs780784724 CA411461926	689	P>S		No	ClinGen ExAC TOPMed gnomAD
rs780784724 CA10222417	689	P>T		No	ClinGen ExAC TOPMed gnomAD
CA10222418 rs745529591	690	Q>*		No	ClinGen ExAC gnomAD
rs1450427899 CA411461965	690	Q>H		No	ClinGen gnomAD
CA411461952 rs1486687535	690	Q>P		No	ClinGen TOPMed gnomAD
rs755787123 CA10222419	692	R>C		No	ClinGen ExAC TOPMed gnomAD
rs779820861 CA10222420	692	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411461994 rs779820861	692	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10222421 rs748854401	693	P>S		No	ClinGen ExAC TOPMed gnomAD
CA324123622 rs768036076 CA10222422	694	R>S		No	ClinGen ExAC TOPMed gnomAD
rs377417290 CA10222423	695	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377417290 CA10222424	695	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA411462049 rs1219301335	695	S>N		No	ClinGen TOPMed gnomAD
CA411462076 rs1280177881	696	L>F		No	ClinGen TOPMed gnomAD
rs1264777644 CA411462081	696	L>P		No	ClinGen TOPMed
rs1220248459 CA411462098	697	A>V		No	ClinGen TOPMed
CA411462104 rs1601592762	698	S>P		No	ClinGen Ensembl
rs1310934181 CA639197043	701	N>E		No	ClinGen TOPMed gnomAD
CA411462158 rs1601592784	701	N>S		No	ClinGen Ensembl

No associated diseases with Q9Y3L3

2 regional properties for Q9Y3L3

Type	Name	Position	InterPro Accession
domain	Rho GTPase-activating protein domain	276 - 469	IPR000198
domain	BAR domain	1 - 262	IPR004148

Functions

		Description
EC Number
Subcellular Localization	Cell projection Cell junction, tight junction Cell junction, adherens junction Cell projection, phagocytic cup Nucleus Cytoplasm, cytosol	Localizes at the leading edge of migrating cells (PubMed:21658605, PubMed:24841563) Accumulation at forming phagocytic cups is PI3 kinase/PI3K-dependent and is specific for sites of large particles engagement and their phosphatidylinositol 3,4,5-triphosphate membrane content (PubMed:26465210)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
bicellular tight junction	An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.
cell leading edge	The area of a motile cell closest to the direction of movement.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
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.
phagocytic cup	An invagination of the cell membrane formed by an actin dependent process during phagocytosis. Following internalization it is converted into a phagosome.

3 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
semaphorin receptor binding	Binding to a semaphorin receptor.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.

15 GO annotations of biological process

Name	Definition
actin filament 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. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
cell junction assembly	A cellular process that results in the aggregation, arrangement and bonding together of a set of components to form a cell junction.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
establishment of epithelial cell apical/basal polarity	The specification and formation of the apicobasal polarity of an epithelial cell.
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.
negative regulation of small GTPase mediated signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of small GTPase mediated signal transduction.
phagocytosis, engulfment	The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of actin filament depolymerization	Any process that modulates the frequency, rate or extent of the disassembly of actin filaments by the removal of actin monomers from a filament.
regulation of blood vessel endothelial cell migration	Any process that modulates the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
regulation of Rac protein signal transduction	Any process that modulates the frequency, rate or extent of Rac protein signal transduction.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
ruffle assembly	The aggregation, arrangement and bonding together of a set of components to form a ruffle, a projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. The formation of ruffles (also called membrane ruffling) is thought to be controlled by a group of enzymes known as Rho GTPases, specifically RhoA, Rac1 and cdc42.
semaphorin-plexin signaling pathway	The series of molecular signals generated as a consequence of a semaphorin receptor (composed of a plexin and a neurophilin) binding to a semaphorin ligand.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VDS5	RhoGAP92B	Rho GTPase-activating protein 92B	Drosophila melanogaster (Fruit fly)	PR
P32019	INPP5B	Type II inositol 1,4,5-trisphosphate 5-phosphatase	Homo sapiens (Human)	PR
Q8K2H3	Fam13b	Protein FAM13B	Mus musculus (Mouse)	PR
Q8K337	Inpp5b	Type II inositol 1,4,5-trisphosphate 5-phosphatase	Mus musculus (Mouse)	PR
Q8BYW1	Arhgap25	Rho GTPase-activating protein 25	Mus musculus (Mouse)	PR
P55194	Sh3bp1	SH3 domain-binding protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MMKRQLHRMR	QLAQTGSLGR	TPETAEFLGE	DLLQVEQRLE	PAKRAAHNIH	KRLQACLQGQ
70	80	90	100	110	120
SGADMDKRVK	KLPLMALSTT	MAESFKELDP	DSSMGKALEM	SCAIQNQLAR	ILAEFEMTLE
130	140	150	160	170	180
RDVLQPLSRL	SEEELPAILK	HKKSLQKLVS	DWNTLKSRLS	QATKNSGSSQ	GLGGSPGSHS
190	200	210	220	230	240
HTTMANKVET	LKEEEEELKR	KVEQCRDEYL	ADLYHFVTKE	DSYANYFIRL	LEIQADYHRR
250	260	270	280	290	300
SLSSLDTALA	ELRENHGQAD	HSPSMTATHF	PRVYGVSLAT	HLQELGREIA	LPIEACVMML
310	320	330	340	350	360
LSEGMKEEGL	FRLAAGASVL	KRLKQTMASD	PHSLEEFCSD	PHAVAGALKS	YLRELPEPLM
370	380	390	400	410	420
TFDLYDDWMR	AASLKEPGAR	LQALQEVCSR	LPPENLSNLR	YLMKFLARLA	EEQEVNKMTP
430	440	450	460	470	480
SNIAIVLGPN	LLWPPEKEGD	QAQLDAASVS	SIQVVGVVEA	LIQSADTLFP	GDINFNVSGL
490	500	510	520	530	540
FSAVTLQDTV	SDRLASEELP	STAVPTPATT	PAPAPAPAPA	PAPALASAAT	KERTESEVPP
550	560	570	580	590	600
RPASPKVTRS	PPETAAPVED	MARRTKRPAP	ARPTMPPPQV	SGSRSSPPAP	PLPPGSGSPG
610	620	630	640	650	660
TPQALPRRLV	GSSLRAPTVP	PPLPPTPPQP	ARRQSRRSPA	SPSPASPGPA	SPSPVSLSNP
670	680	690	700
AQVDLGAATA	EGGAPEAISG	VPTPPAIPPQ	PRPRSLASET	N