AiPD: Autoinhibited Protein Database

Q9UNA1

Gene name	ARHGAP26 (GRAF, KIAA0621, OPHN1L)
Protein name	Rho GTPase-activating protein 26
Names	GTPase regulator associated with focal adhesion kinase, Oligophrenin-1-like protein, Rho-type GTPase-activating protein 26
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23092
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

335-405 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

335-405 (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 Q9UNA1

Entry ID	Method	Resolution	Chain	Position	Source
1UGV	NMR	-	A	756-814	PDB
AF-Q9UNA1-F1	Predicted				AlphaFoldDB

537 variants for Q9UNA1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000005355 CA117231 VAR_013623 rs121918546	417	N>S	Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (jmml) JMML; somatic mutation [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA3485872 rs766855284	3	L>F		No	ClinGen ExAC gnomAD
rs1321516548 CA361859769	10	D>Y		No	ClinGen gnomAD
CA361859778 rs1561809859	11	C>G		No	ClinGen Ensembl
CA361859789 rs1433108180	12	C>F		No	ClinGen TOPMed gnomAD
rs768139692 CA3485875	12	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1433108180 CA361859787	12	C>Y		No	ClinGen TOPMed gnomAD
CA3485878 rs777926681	14	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs754059344 CA3485879	15	S>R		No	ClinGen ExAC gnomAD
TCGA novel	17	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3485880 rs758127804	17	H>R		No	ClinGen ExAC gnomAD
rs1320877727 CA361859820	17	H>Y		No	ClinGen TOPMed gnomAD
rs1003410618 CA129195806	18	F>V		No	ClinGen TOPMed
CA361859832 rs1268420395	19	R>G		No	ClinGen gnomAD
CA3485882 rs746886307	20	E>G		No	ClinGen ExAC TOPMed gnomAD
CA361859858 rs1200997418	23	K>Q		No	ClinGen gnomAD
rs1427078563 CA361859869	24	S>L		No	ClinGen gnomAD
CA361859868 rs1427078563	24	S>W		No	ClinGen gnomAD
CA3485885 rs143773080	25	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs769376651 CA3485886 CA3485887	30	D>E		No	ClinGen ExAC gnomAD
CA361859904 rs1288449552	30	D>N		No	ClinGen gnomAD
CA361859923 rs1388881264	32	T>I		No	ClinGen gnomAD
CA361859928 rs1389618812	33	N>S		No	ClinGen gnomAD
rs762709010 CA3485888	34	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1229495516 CA361859945	35	F>L		No	ClinGen gnomAD
TCGA novel	36	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	38	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361859973 rs1288438107	39	L>H		No	ClinGen gnomAD
rs1034847425 CA129195809	40	I>L		No	ClinGen TOPMed gnomAD
rs759987885 CA3485892	44	K>N		No	ClinGen ExAC gnomAD
rs1597540926 CA361860009	44	K>R		No	ClinGen Ensembl
CA3485893 rs147221601	47	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs760635009 CA3485894	48	S>N		No	ClinGen ExAC gnomAD
rs764167999 CA3485895	49	A>S		No	ClinGen ExAC gnomAD
CA3485898 rs779143835	51	K>N		No	ClinGen ExAC TOPMed gnomAD
rs773309825 CA3485954	53	L>S		No	ClinGen ExAC gnomAD
rs138620429 CA3485955	56	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3485957 rs774726416	58	R>G		No	ClinGen ExAC gnomAD
CA361859199 rs975495910	58	R>L		No	ClinGen TOPMed gnomAD
CA129207222 rs975495910	58	R>Q		No	ClinGen TOPMed gnomAD
CA129207221 rs774726416	58	R>W		No	ClinGen ExAC gnomAD
CA361859200 rs1186149502	59	K>Q		No	ClinGen TOPMed
rs1450754303 CA361859216	61	A>T		No	ClinGen TOPMed
rs200276995 CA3485958	71	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA3485960 rs753775256	74	D>H		No	ClinGen ExAC gnomAD
TCGA novel	75	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765158622 CA3485962	78	D>A		No	ClinGen ExAC gnomAD
CA361859368 CA361859366 rs1159983919	81	M>I		No	ClinGen TOPMed gnomAD
rs922352544 CA129207223	81	M>V		No	ClinGen Ensembl
rs1186379196 CA361859369	82	C>G		No	ClinGen TOPMed
CA361859402 rs1437959195	85	R>G		No	ClinGen gnomAD
CA361859407 rs185200 CA361859408	85	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3485974 rs770917906	89	E>D		No	ClinGen ExAC gnomAD
TCGA novel	89	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361859437 rs1374818721	90	F>I		No	ClinGen TOPMed
CA361859474 rs1433007794	95	R>S		No	ClinGen TOPMed
rs1183761752 CA361859490	98	E>K		No	ClinGen gnomAD
rs772467491 CA3485977	99	D>E		No	ClinGen ExAC gnomAD
CA3485978 rs776566350	101	R>Q		No	ClinGen ExAC gnomAD
rs1422508502 CA361859514	101	R>W		No	ClinGen gnomAD
rs761574373 CA361859525	103	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3485979 rs761574373	103	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA156908 rs587778050 RCV000120058	103	R>W		No	ClinGen ClinVar Ensembl dbSNP
rs902651243 CA129207845	105	I>T		No	ClinGen TOPMed
CA3485995 rs775871768	105	I>V		No	ClinGen ExAC gnomAD
CA3485996 rs761604734	106	E>A		No	ClinGen ExAC gnomAD
TCGA novel	107	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769509954 CA3485997	107	N>S		No	ClinGen ExAC gnomAD
CA361859571 rs1298803239	108	A>V		No	ClinGen gnomAD
CA361859576 rs1328508142	109	S>N		No	ClinGen gnomAD
rs762777887 CA3485999	110	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1338223059 CA361859588	111	V>M		No	ClinGen gnomAD
rs1171407994 CA361859596	112	L>F		No	ClinGen gnomAD
rs113632964 CA129207846	112	L>P		No	ClinGen Ensembl
CA361859600 rs1223567276	113	I>V		No	ClinGen gnomAD
rs773845372 CA361859609	114	T>I		No	ClinGen ExAC gnomAD
CA3486001 rs773845372	114	T>N		No	ClinGen ExAC gnomAD
rs766345092 CA3486000	114	T>S		No	ClinGen ExAC gnomAD
TCGA novel	115	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368528114 CA3486003	118	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1305021814 COSM215964 CA361859647	120	R>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed
CA361859650 rs1191015382	120	R>L		No	ClinGen gnomAD
CA361859648 rs1191015382 COSM1732238	120	R>Q	Variant assessed as Somatic; 0.0 impact. bone [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361859652 rs1372409447	121	K>E		No	ClinGen gnomAD
TCGA novel	121	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772422132 CA3486007	124	I>M		No	ClinGen ExAC TOPMed gnomAD
CA3486006 rs764384167	124	I>S		No	ClinGen ExAC gnomAD
rs768277972 CA3486008	125	G>R		No	ClinGen ExAC gnomAD
CA129207851 rs1012939271	126	A>D		No	ClinGen TOPMed
rs779626045 CA3486009	126	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	126	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745887563 CA3486010	127	A>T		No	ClinGen ExAC gnomAD
TCGA novel	128	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3486011 rs758560091	128	K>R		No	ClinGen ExAC gnomAD
TCGA novel	129	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs947427383 CA129208515	130	A>T		No	ClinGen TOPMed gnomAD
CA3486030 rs751001402	130	A>V		No	ClinGen ExAC gnomAD
TCGA novel	132	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	139	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361860146 rs1359874871	139	E>Q		No	ClinGen gnomAD
CA3486032 rs779977268	140	K>N		No	ClinGen ExAC TOPMed gnomAD
CA361860164 rs1289469061	141	Y>C		No	ClinGen gnomAD
TCGA novel	142	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs534294357 CA3486034	144	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3486035 rs781534570	150	N>S		No	ClinGen ExAC gnomAD
CA3486036 rs748978275	153	S>F		No	ClinGen ExAC TOPMed gnomAD
CA361860247 rs1181281907	153	S>P		No	ClinGen gnomAD
TCGA novel	154	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426941016 CA361860251	154	K>E		No	ClinGen gnomAD
CA3486037 rs770715343	159	Q>L		No	ClinGen ExAC gnomAD
CA3486054 rs756993598	163	A>T		No	ClinGen ExAC gnomAD
CA361860614 rs1377600736	165	S>G		No	ClinGen TOPMed gnomAD
rs778654613 CA3486055	167	V>L		No	ClinGen ExAC gnomAD
CA361860649 rs1462830630	170	V>I		No	ClinGen gnomAD
rs536190276 CA3486056	171	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1201944584 CA361860654	171	R>W		No	ClinGen gnomAD
CA129209456 rs767782038	173	H>R		No	ClinGen gnomAD
rs1160776438 CA16040267	175	Y>C		No	ClinGen TOPMed gnomAD
rs771895343 CA3486057	175	Y>N		No	ClinGen ExAC gnomAD
CA129209457 rs369669410	176	E>*		No	ClinGen ESP
CA361860691 rs1428393114	176	E>D		No	ClinGen gnomAD
rs372729843 CA129209458	176	E>V		No	ClinGen ESP
rs1169376915 CA361860696	177	V>E		No	ClinGen TOPMed gnomAD
CA361860705 rs1334265427	179	L>V		No	ClinGen gnomAD
CA3486059 rs746441855	180	E>D		No	ClinGen ExAC gnomAD
CA361860742 rs1290609157	184	K>R		No	ClinGen gnomAD
rs1399251394 CA361860754	186	Q>*		No	ClinGen gnomAD
rs1284018114 CA361860756	186	Q>R		No	ClinGen gnomAD
rs761536340 CA3486062 COSM1634041	190	E>D	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361860787 rs1598124631	190	E>G		No	ClinGen Ensembl
rs1278151523 CA361860803	192	K>N		No	ClinGen gnomAD
rs769612957 CA3486063	197	V>E		No	ClinGen ExAC gnomAD
rs773708545 CA3486064	198	E>*		No	ClinGen ExAC gnomAD
CA361861244 rs1178624313	203	F>L		No	ClinGen TOPMed
TCGA novel	206	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	206	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780820608 CA3486079	207	L>V		No	ClinGen ExAC gnomAD
CA3486080 rs747727445	208	F>L		No	ClinGen ExAC gnomAD
CA361861333 rs773011288	215	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA3486083 COSM1063619 rs749597249	216	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3486086 rs148543665 CA3486085 COSM3209544	222	G>R	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD NCI-TCGA
CA3486087 rs148543665	222	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA361861382 rs1355126678	223	D>A		No	ClinGen TOPMed gnomAD
rs775539127 CA3486088	224	F>L		No	ClinGen ExAC gnomAD
rs1376674739 CA361861398	225	K>R		No	ClinGen TOPMed gnomAD
rs1376674739 CA361861397	225	K>T		No	ClinGen TOPMed gnomAD
CA361861408 rs760798771	227	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3486089 rs760798771	227	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA361861427 rs1562046694	229	T>S		No	ClinGen Ensembl
CA3486090 rs764237489	231	S>N		No	ClinGen ExAC TOPMed
CA361861442 rs1487203585	232	I>L		No	ClinGen TOPMed gnomAD
CA129210271 rs1048700602	233	Q>H		No	ClinGen Ensembl
rs754744879 CA3486114	238	R>C		No	ClinGen ExAC gnomAD
rs544216711 CA3486115	242	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361861547 rs1440476218	245	E>V		No	ClinGen gnomAD
CA361861550 rs1186795750	246	V>M		No	ClinGen gnomAD
rs1210961341 CA361861556	247	E>K		No	ClinGen TOPMed
TCGA novel	255	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777398749 CA3486118	257	P>S		No	ClinGen ExAC gnomAD
rs375431090 CA129210443	258	L>I		No	ClinGen ESP TOPMed gnomAD
CA3486121 rs778485602	258	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1350706368 CA361861646	259	E>G		No	ClinGen TOPMed
rs1395787130 CA361861642	259	E>K		No	ClinGen gnomAD
rs1282306782 CA361861656	260	H>Q		No	ClinGen TOPMed
CA361861662 rs1319338041	261	K>R		No	ClinGen gnomAD
CA361861669 rs746183177	262	T>N		No	ClinGen ExAC gnomAD
rs746183177 CA3486122	262	T>S		No	ClinGen ExAC gnomAD
rs1275776214 CA361861676	263	I>M		No	ClinGen gnomAD
CA3486123 rs772460248	263	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3486124 rs780493063	264	S>R		No	ClinGen ExAC gnomAD
CA361861684 rs1223813463	265	P>S		No	ClinGen TOPMed gnomAD
CA361861686 rs1223813463	265	P>T		No	ClinGen TOPMed gnomAD
rs1342666860 CA361861693	266	Y>S		No	ClinGen gnomAD
CA361861698 rs1262118222	267	T>P		No	ClinGen gnomAD
CA361861709 rs1400069988	268	M>T		No	ClinGen TOPMed
CA361861717 rs1448663896	269	E>K		No	ClinGen gnomAD
CA129210445 CA361861776 rs769590245	274	V>L		No	ClinGen TOPMed gnomAD
CA361862289 rs1387878829	278	R>H		No	ClinGen gnomAD
rs748194275 CA3486145	287	H>R		No	ClinGen ExAC TOPMed gnomAD
CA361862439 rs1308211359	290	T>A		No	ClinGen gnomAD
CA3486148 rs143750962	291	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212244695 CA361862478	293	R>Q		No	ClinGen TOPMed
CA3486149 rs369306277	293	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs775417807 CA3486150	294	D>V		No	ClinGen ExAC gnomAD
rs760599771 CA3486151	296	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3486152 rs764031140	299	T>A		No	ClinGen ExAC TOPMed gnomAD
CA129210846 rs774658801	299	T>I		No	ClinGen TOPMed gnomAD
rs774658801 CA361862544	299	T>S		No	ClinGen TOPMed gnomAD
CA129210847 rs991860653	300	M>K		No	ClinGen gnomAD
rs1304362865 CA361862546	300	M>V		No	ClinGen TOPMed
TCGA novel	301	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1386180176 CA361862561	301	V>L		No	ClinGen gnomAD
rs764633433 CA3486155	303	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1598186102 CA361862669	311	G>A		No	ClinGen Ensembl
rs151331335 CA129211397	312	G>E		No	ClinGen ESP TOPMed gnomAD
rs776541274 CA3486171	313	E>G		No	ClinGen ExAC gnomAD
rs560873813 CA3486175	317	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3486174 rs540883276	317	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361862747 rs540883276	317	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3486176 rs775451635	320	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3486177 rs751244756	324	R>W		No	ClinGen ExAC TOPMed
CA16040268 rs375994805	325	R>Q		No	ClinGen ESP gnomAD
rs755319414 CA3486178	325	R>W		No	ClinGen ExAC TOPMed gnomAD
CA361862830 rs1264791893	330	I>T		No	ClinGen gnomAD
TCGA novel	333	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761836470 CA129211400	338	V>M		No	ClinGen Ensembl
rs768679608 CA3486180	339	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1399410960 CA361862905	340	A>V		No	ClinGen gnomAD
rs369388087 CA129211401	342	D>E		No	ClinGen ESP
CA3486183 rs529657821	342	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3486182 rs778398220	342	D>N		No	ClinGen ExAC gnomAD
CA361858972 rs1424283292	343	R>S		No	ClinGen gnomAD
CA129213436 rs1028328735	344	P>S		No	ClinGen TOPMed gnomAD
CA361858974 rs1028328735	344	P>T		No	ClinGen TOPMed gnomAD
CA361858980 rs1358583706	345	G>W		No	ClinGen TOPMed gnomAD
rs937601001 CA129213437	346	V>F		No	ClinGen gnomAD
CA3486198 rs752990200	347	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1428759498 CA361858990	347	I>V		No	ClinGen TOPMed
CA361859002 rs1351675586	349	M>V		No	ClinGen gnomAD
rs754424563 CA3486201	353	S>L		No	ClinGen ExAC gnomAD
rs1598293702 CA361859038	354	E>*		No	ClinGen Ensembl
rs1598293719 CA361859040	354	E>V		No	ClinGen Ensembl
CA3486203 rs538728528	356	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA361859060 rs1247273370	357	R>Q		No	ClinGen TOPMed gnomAD
rs750600019 CA3486204	357	R>W		No	ClinGen ExAC TOPMed
rs1290037224 CA361859065	358	R>K		No	ClinGen gnomAD
rs1218979781 CA361859072	359	L>H		No	ClinGen gnomAD
CA3486205 rs758540234	359	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361859088 rs1457902378	361	M>T		No	ClinGen gnomAD
rs1184219889 CA361859093	362	E>K		No	ClinGen TOPMed
CA3486207 rs747831419	367	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs559024664 CA3486206	367	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361859134 rs1439074432	368	E>Q		No	ClinGen gnomAD
TCGA novel	369	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361859142 rs1164130489	369	P>T		No	ClinGen gnomAD
CA129222800 rs899625740	370	V>I		No	ClinGen TOPMed
rs754297763 CA3486218	371	Y>H		No	ClinGen ExAC gnomAD
CA361860524 rs1420238516	373	S>L		No	ClinGen gnomAD
CA361860536 rs1168784930	375	K>T		No	ClinGen gnomAD
CA3486220 rs762408939	377	S>N		No	ClinGen ExAC gnomAD
rs1168567672 CA361860560	378	Q>R		No	ClinGen gnomAD
rs1453806080 CA361860576	380	E>G		No	ClinGen gnomAD
CA129222801 rs895573530	381	G>A		No	ClinGen Ensembl
rs765772526 CA3486243	383	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	384	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1262549487 CA361862947	384	Q>L		No	ClinGen TOPMed
CA361862955 rs1477893586	385	L>F		No	ClinGen gnomAD
rs766463008 CA3486246	387	S>G		No	ClinGen ExAC gnomAD
CA3486247 rs541692751	387	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA129225376 rs1051090107	388	I>T		No	ClinGen Ensembl
CA361862972 rs1295821921	388	I>V		No	ClinGen gnomAD
CA3486248 rs755187078	389	G>D		No	ClinGen ExAC gnomAD
CA361863011 rs1310776075	393	I>M		No	ClinGen TOPMed gnomAD
rs1345964420 CA361863017	394	R>S		No	ClinGen TOPMed
CA3486249 rs767784597	395	K>R		No	ClinGen ExAC gnomAD
rs753572567 CA3486250	398	H>Y		No	ClinGen ExAC gnomAD
rs1329181722 CA361863053	399	A>V		No	ClinGen gnomAD
TCGA novel	401	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361863072 rs1232286999	402	T>S		No	ClinGen gnomAD
TCGA novel	404	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361863111 rs1240493049	406	N>S		No	ClinGen gnomAD
TCGA novel	407	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1434820 CA129225851 rs368631485	407	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA
rs1178621900 CA361863123	408	Q>K		No	ClinGen gnomAD
rs765056827 CA3486271	413	I>T		No	ClinGen ExAC gnomAD
rs587778047 RCV000120054	416	V>missing		No	ClinVar dbSNP
CA3486273 rs121918546	417	N>T	Juvenile myelomonocytic leukemia (jmml) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs779872777 CA3486274	421	Q>H		No	ClinGen ExAC gnomAD
rs1463887875 CA361863216	422	K>N		No	ClinGen gnomAD
TCGA novel	429	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA129227171 rs141277545	431	K>E		No	ClinGen ESP
rs146954969 CA3486297	439	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs752325217 CA3486296	439	D>N		No	ClinGen ExAC gnomAD
CA361860940 rs1420162742	440	I>V		No	ClinGen gnomAD
rs937866652 CA129227172	441	C>G		No	ClinGen TOPMed
rs1358689575 CA361860969	444	W>*		No	ClinGen gnomAD
TCGA novel	445	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3486298 rs777301452	446	I>M		No	ClinGen ExAC gnomAD
rs1294317975 CA361861004	449	I>V		No	ClinGen gnomAD
CA3486299 rs749596248	450	T>A		No	ClinGen ExAC gnomAD
rs1355753802 CA361861053	456	Y>C		No	ClinGen TOPMed
CA129227173 rs865996352	458	R>K		No	ClinGen gnomAD
rs1471761284 CA361861084	459	M>I		No	ClinGen TOPMed
rs1272389933 CA361861083	459	M>R		No	ClinGen gnomAD
rs749523295 CA129227309	461	P>R		No	ClinGen Ensembl
rs1231135797 CA361861120	465	M>T		No	ClinGen gnomAD
rs1180221937 CA361861117	465	M>V		No	ClinGen gnomAD
rs768641152 CA3486323	466	M>I		No	ClinGen ExAC gnomAD
rs1182531755 CA361861150	469	F>L		No	ClinGen gnomAD
TCGA novel	470	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361861181 rs1390955442	473	F>L		No	ClinGen gnomAD
CA3486325 rs748291505	474	I>T		No	ClinGen ExAC gnomAD
CA129227311 rs967615552	475	K>R		No	ClinGen gnomAD
rs1562340713 CA361861211	477	A>G		No	ClinGen Ensembl
CA129227312 rs202108989	477	A>T		No	ClinGen TOPMed gnomAD
rs1360439426 CA361861739	479	L>M		No	ClinGen gnomAD
CA3486345 rs773569740	483	E>G		No	ClinGen ExAC gnomAD
COSM1754085 rs943099101 CA129227455	485	R>W	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1177663859 CA361861856	488	E>K		No	ClinGen TOPMed
rs370113595 CA3486347	490	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3486346 rs745615384	490	H>R		No	ClinGen ExAC gnomAD
CA3486348 rs775404572	493	V>I		No	ClinGen ExAC gnomAD
rs1418071301 CA361861898	494	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3486349 rs760497830	495	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361861918 rs1338465482	497	P>L		No	ClinGen gnomAD
CA361861942 rs1598834725	500	N>K		No	ClinGen Ensembl
TCGA novel	500	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764158418 CA3486350	501	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775989661 CA3486351	502	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3486352 rs761318223	505	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs761318223 CA361861971	505	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1210262739 CA361861975	505	Q>L		No	ClinGen gnomAD
rs200233602 CA3486353	508	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3486396 rs761258345	518	H>R		No	ClinGen ExAC TOPMed gnomAD
CA361863326 rs1484503256	520	Q>H		No	ClinGen gnomAD
rs142172254 CA3486397	520	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1485178041 CA361863356	524	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	525	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361863372 rs1599107730	527	N>T		No	ClinGen Ensembl
rs1426538345 CA361863381	528	L>P		No	ClinGen gnomAD
TCGA novel	529	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3486400 rs778955495	530	V>M		No	ClinGen ExAC gnomAD
rs200735964 CA129234547	535	T>S		No	ClinGen TOPMed
TCGA novel	538	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758588683 CA3486402	540	Q>E		No	ClinGen ExAC gnomAD
rs1374924807 CA361863463	542	E>K		No	ClinGen gnomAD
rs781036613 CA3486403	549	D>N		No	ClinGen ExAC gnomAD
rs1562463808 CA361863515	549	D>V		No	ClinGen Ensembl
rs148277580 CA361863524	550	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	551	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	555	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3486405 rs755992247	555	I>V		No	ClinGen ExAC gnomAD
TCGA novel	556	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3768209 rs141872257 CA3486406	557	I>V	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	558	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3486408 rs770495318	563	N>T		No	ClinGen ExAC gnomAD
CA129234549 rs930412391	563	N>Y		No	ClinGen Ensembl
TCGA novel	565	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374932134 CA3486410 COSM1063634	565	E>K	Variant assessed as Somatic; 0.0 impact. skin endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA361863635 rs1346490355	566	K>R		No	ClinGen gnomAD
rs1405875819 CA361864373	567	I>K		No	ClinGen gnomAD
rs771697394 CA3486428	571	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM1063636 CA3486429 rs775284912	573	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA361864509 rs775284912	573	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361864567 rs1332646086	575	P>S		No	ClinGen TOPMed gnomAD
CA361864561 rs1332646086	575	P>T		No	ClinGen TOPMed gnomAD
rs190103100 CA3486430	576	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1444971373 CA361864609	576	L>H		No	ClinGen gnomAD
rs190103100 CA361864601	576	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs965736142 CA129235908	577	T>S		No	ClinGen Ensembl
rs762378594 CA3486433	578	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3486432 rs527459078	578	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA361864680 rs1336441992	579	A>D		No	ClinGen gnomAD
rs138201954 CA3486434	579	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773289106 CA3486435	582	H>L		No	ClinGen ExAC TOPMed gnomAD
rs773289106 CA361864750	582	H>R		No	ClinGen ExAC TOPMed gnomAD
CA361864743 rs1234378582	582	H>Y		No	ClinGen TOPMed
COSM1310804 CA3486437 rs762950382	585	R>G	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3486438 rs751805271	585	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3486436 rs762950382	585	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3486439 rs755239975	587	K>T		No	ClinGen ExAC gnomAD
CA361864853 rs1231299447	588	S>C		No	ClinGen gnomAD
rs763842100 CA3486440	588	S>N		No	ClinGen ExAC gnomAD
CA129235909 rs369464916	591	S>F		No	ClinGen ESP
RCV000120055 CA156902 rs587778048	592	K>R		No	ClinGen ClinVar Ensembl dbSNP
rs753638895 CA3486441	593	P>S		No	ClinGen ExAC gnomAD
CA3486443 rs757204903	594	P>L		No	ClinGen ExAC gnomAD
rs757204903 CA3486442	594	P>Q		No	ClinGen ExAC gnomAD
CA3486445 rs758011894	595	S>A		No	ClinGen ExAC TOPMed gnomAD
CA361864986 rs758011894	595	S>P		No	ClinGen ExAC TOPMed gnomAD
rs563141037 CA129235910	596	C>R		No	ClinGen Ensembl
rs778542742 CA361865047	597	S>R		No	ClinGen ExAC TOPMed gnomAD
rs781680770 CA3486449	598	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770272847 CA3486451	602	T>M	Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361865190 rs1185101939	605	H>N		No	ClinGen TOPMed
CA361865235 rs770972810	606	T>A		No	ClinGen ExAC TOPMed gnomAD
rs770972810 CA3486454	606	T>P		No	ClinGen ExAC TOPMed gnomAD
rs182686164 CA3486456	607	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361865274 rs1599164668	608	Q>E		No	ClinGen Ensembl
rs767782413 CA3486457	610	T>A		No	ClinGen ExAC gnomAD
RCV000120056 CA156904 rs200573018	610	T>I		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
TCGA novel	612	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361865463 rs1484850928	613	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361867915 rs1385232335	616	R>G		No	ClinGen gnomAD
rs1402068557 CA361867939	617	N>D		No	ClinGen gnomAD
rs972664912 CA16040269	617	N>K		No	ClinGen TOPMed gnomAD
CA3486478 rs764910895	619	I>V		No	ClinGen ExAC gnomAD
CA3486479 rs750299791	623	S>T		No	ClinGen ExAC gnomAD
CA3486480 rs762972613	625	E>Q		No	ClinGen ExAC gnomAD
rs766434176 CA3486481	627	V>L		No	ClinGen ExAC gnomAD
CA361868031 rs754569626	630	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3486483 rs754569626	630	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1284059655 CA361868047	632	N>S		No	ClinGen gnomAD
rs1469205859 CA361868062	634	I>N		No	ClinGen TOPMed gnomAD
rs1025539992 CA129237320	640	S>G		No	ClinGen TOPMed gnomAD
CA361868104 rs1197611926	640	S>N		No	ClinGen gnomAD
rs755826959 CA3486486	642	Q>*		No	ClinGen ExAC
CA361868118 rs1336267009	642	Q>R		No	ClinGen TOPMed
rs749708150 CA3486489	643	P>L		No	ClinGen ExAC gnomAD
rs777992228 CA3486488	643	P>T		No	ClinGen ExAC gnomAD
rs757700614 CA3486490	644	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3486491 rs779395323	645	M>L		No	ClinGen ExAC TOPMed gnomAD
CA3486493 rs772066864	645	M>R		No	ClinGen ExAC gnomAD
rs779395323 CA3486492	645	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1392219494 CA361868144	646	N>S		No	ClinGen TOPMed gnomAD
CA361868142 rs1409512182	646	N>Y		No	ClinGen TOPMed
CA3486494 rs775686952	648	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3486496 rs768981723	650	P>R		No	ClinGen ExAC gnomAD
rs1236907613 CA361868175	651	D>H		No	ClinGen gnomAD
CA3486497 rs142158613	657	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361868225 rs189592386	659	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs189592386 CA3486499	659	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35543343 CA3486498	659	R>W		No	ClinGen ExAC TOPMed gnomAD
CA361868230 rs1468477869	660	P>H		No	ClinGen TOPMed gnomAD
CA361868231 rs1468477869	660	P>R		No	ClinGen TOPMed gnomAD
rs1262925193 CA361868237	661	N>S		No	ClinGen Ensembl
CA129244022 rs866743500	664	P>S		No	ClinGen TOPMed
CA361864568 rs866743500	664	P>T		No	ClinGen TOPMed
CA361864616 rs1262319806	665	P>L		No	ClinGen TOPMed gnomAD
rs1298538973	665	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1200713108 CA361864669	667	P>L		No	ClinGen TOPMed
rs755110899 CA3486532	667	P>S		No	ClinGen ExAC gnomAD
CA129244023 rs1020629047	669	P>A		No	ClinGen TOPMed
rs781473038 CA3486533	670	T>A		No	ClinGen ExAC TOPMed gnomAD
CA361864718 rs781473038	670	T>S		No	ClinGen ExAC TOPMed gnomAD
CA3486534 rs748353535	673	L>F		No	ClinGen ExAC TOPMed gnomAD
CA361864795 rs1358374857	673	L>P		No	ClinGen TOPMed
CA3486535 rs770211962	674	S>L		No	ClinGen ExAC gnomAD
CA3486536 rs778834142	676	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1161529765 CA361864897	678	P>L		No	ClinGen gnomAD
CA3486537 rs745684629	679	M>T		No	ClinGen ExAC TOPMed gnomAD
CA361864903 rs1457075635	679	M>V		No	ClinGen gnomAD
CA3486538 rs771835850	681	S>L		No	ClinGen ExAC TOPMed gnomAD
rs148592957 CA3486540	682	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1223806659 CA361865029	685	S>N		No	ClinGen gnomAD
CA361865040 rs1321002382	685	S>R		No	ClinGen TOPMed
CA361865054 rs1599517971	686	P>S		No	ClinGen Ensembl
CA3486542 rs776158322	687	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1413899732 CA361865115	689	T>P		No	ClinGen TOPMed
CA3486543 rs761442291	690	S>*		No	ClinGen ExAC gnomAD
rs761442291 CA129244026	690	S>L		No	ClinGen ExAC gnomAD
rs1165831956 CA361865130	690	S>T		No	ClinGen gnomAD
rs373829603 CA129244027	692	T>M		No	ClinGen ESP gnomAD
rs373829603 CA361865174	692	T>R		No	ClinGen ESP gnomAD
TCGA novel	693	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750689105 CA3486545	694	S>G		No	ClinGen ExAC TOPMed gnomAD
CA361865198 COSM373490 rs1219245612	694	S>N	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA129244028 rs750689105	694	S>R		No	ClinGen ExAC TOPMed gnomAD
CA129244029 rs919252044	695	D>N		No	ClinGen TOPMed gnomAD
CA3486547 rs200244300	695	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs912641769 CA129244030	697	S>P		No	ClinGen Ensembl
rs144980456 CA3486552	699	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs144980456 CA3486551 COSM3209587	699	V>I	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	699	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361865385 rs1215760366	701	S>F		No	ClinGen TOPMed
rs1355582413 CA361865426	704	G>E		No	ClinGen gnomAD
rs778143214 CA3486554	704	G>W		No	ClinGen ExAC gnomAD
CA3486555 rs147594828	705	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs771922181 CA3486556	707	W>L		No	ClinGen ExAC gnomAD
TCGA novel	709	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348305569 CA361865557	711	A>P		No	ClinGen gnomAD
rs138930924 CA3486558	713	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs138930924 CA3486559	713	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1272654528 CA361865657	716	S>L		No	ClinGen TOPMed
rs747661745 CA3486561	716	S>T		No	ClinGen ExAC gnomAD
CA3486562 rs769398528	717	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1044591557 CA129244031	718	A>V		No	ClinGen Ensembl
CA3486565 rs766737289	719	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766737289 CA361865699	719	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM3209591 CA3486564 rs762565787	719	R>W	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3486566 rs774650330	720	S>A		No	ClinGen ExAC gnomAD
COSM205442 rs562055157 RCV000120059 CA156910	723	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA361865836 rs1359248362	727	S>G		No	ClinGen TOPMed
rs184478142 CA3486567	728	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3486569 rs367738404	730	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361865914 rs1412121055	731	N>K		No	ClinGen gnomAD
CA3486570 rs764360414	731	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3486572 rs754066085	734	P>S		No	ClinGen ExAC gnomAD
rs754066085 CA3486571	734	P>T		No	ClinGen ExAC gnomAD
CA361865955 rs1599518976	735	C>R		No	ClinGen Ensembl
CA129244032 rs891524472	736	H>Y		No	ClinGen gnomAD
CA361866004 rs1428761863	738	N>K		No	ClinGen gnomAD
CA3486573 rs779894814	740	H>R		No	ClinGen ExAC gnomAD
rs1021385645 CA129244033	745	R>G		No	ClinGen Ensembl
rs1445551668 CA361866098	746	P>A		No	ClinGen gnomAD
rs1269661891 CA361866113	747	E>G		No	ClinGen TOPMed
rs754844573 CA3486575	747	E>K		No	ClinGen ExAC gnomAD
CA3486576 rs781141034	749	A>S		No	ClinGen ExAC gnomAD
CA3486577 rs199750999	749	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1211638930 CA361866160	751	H>P		No	ClinGen TOPMed gnomAD
CA361866162 rs1211638930	751	H>R		No	ClinGen TOPMed gnomAD
rs1341570957 CA361866158	751	H>Y		No	ClinGen gnomAD
rs1282743966 CA361866206	754	S>C		No	ClinGen gnomAD
rs369671615 CA129244035	755	S>G		No	ClinGen ESP
rs1440850373 CA361866217	755	S>T		No	ClinGen gnomAD
rs1247959500 CA361866764	756	T>A		No	ClinGen TOPMed gnomAD
rs751316229 CA3486594	757	P>A		No	ClinGen ExAC gnomAD
rs754791440 CA361867057	757	P>L		No	ClinGen ExAC gnomAD
rs754791440 CA3486595	757	P>R		No	ClinGen ExAC gnomAD
rs749105278 CA129244790	759	R>Q		No	ClinGen gnomAD
rs748049685 CA3486597	759	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	762	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361867104 rs1387888762	762	K>N		No	ClinGen gnomAD
CA3486598 rs567856399	762	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361867124 rs1328055146	764	L>S		No	ClinGen gnomAD
CA361867152 COSM3827296 rs1599551117	766	A>T	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	769	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1280395053 CA361867227	771	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361867239 rs1353037884	772	D>V		No	ClinGen gnomAD
CA361867248 rs1164230771	773	S>P		No	ClinGen gnomAD
rs182566788 CA361867287 COSM171320	776	S>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs182566788 CA3486600	776	S>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1421749362 CA361867312	778	T>I		No	ClinGen TOPMed
rs778457148 CA3486602	778	T>S		No	ClinGen ExAC gnomAD
rs1449405597 CA361867319	779	A>T		No	ClinGen gnomAD
CA129244791 rs150150241	780	G>D		No	ClinGen ESP
CA129244792 rs201921386	781	T>M		No	ClinGen Ensembl
TCGA novel	784	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA156906 rs587778049 RCV000120057	784	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs258819 CA361867412	785	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757256218 CA3486635	786	V>A		No	ClinGen ExAC gnomAD
CA361867720 rs1298742076	787	H>L		No	ClinGen gnomAD
rs1298742076 CA361867719	787	H>R		No	ClinGen gnomAD
CA3486636 rs778560183	788	P>A		No	ClinGen ExAC TOPMed gnomAD
CA361867727 rs1228837616	788	P>L		No	ClinGen gnomAD
rs1197722198 CA361867738	790	Q>R		No	ClinGen TOPMed
rs1269778353 CA361867752	792	P>A		No	ClinGen gnomAD
rs1208006664 CA361867783	796	E>G		No	ClinGen gnomAD
CA129245762 rs868866270	801	G>R		No	ClinGen TOPMed gnomAD
rs1031103113 CA129245763	806	I>M		No	ClinGen Ensembl
CA361867843 rs1193453853	806	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA129245764 rs747988792	808	E>D		No	ClinGen TOPMed
rs989365937 CA361867902	811	V>L		No	ClinGen TOPMed gnomAD
rs989365937 CA129245765	811	V>M		No	ClinGen TOPMed gnomAD
CA361867910 rs1410179379	812	E>K		No	ClinGen gnomAD
CA3486642 rs781652051	813	F>I		No	ClinGen ExAC TOPMed gnomAD
CA361867920 rs781652051	813	F>V		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9UNA1

2 regional properties for Q9UNA1

Type	Name	Position	InterPro Accession
domain	Zinc finger, RING-type	358 - 397	IPR001841
conserved_site	Zinc finger, RING-type, conserved site	374 - 383	IPR017907

Functions

		Description
EC Number
Subcellular Localization	[Isoform 2]: Endosome membrane	Colocalized with RAB8A, RAB8B and RAB10 on endosomal tubules
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
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.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).

2 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.
phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.

4 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.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5ZMW5	ARHGAP26	Rho GTPase-activating protein 26	Gallus gallus (Chicken)	PR
Q7YQL6	OPHN1	Oligophrenin-1	Pan troglodytes (Chimpanzee)	PR
A6NI28	ARHGAP42	Rho GTPase-activating protein 42	Homo sapiens (Human)	PR
O60890	OPHN1	Oligophrenin-1	Homo sapiens (Human)	PR
B2RQE8	Arhgap42	Rho GTPase-activating protein 42	Mus musculus (Mouse)	PR
Q99J31	Ophn1	Oligophrenin-1	Mus musculus (Mouse)	PR
Q6ZQ82	Arhgap26	Rho GTPase-activating protein 26	Mus musculus (Mouse)	PR
P0CAX5	Ophn1	Oligophrenin-1	Rattus norvegicus (Rat)	PR
B5DFQ4	arhgap26	Rho GTPase-activating protein 26	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MGLPALEFSD	CCLDSPHFRE	TLKSHEAELD	KTNKFIKELI	KDGKSLISAL	KNLSSAKRKF
70	80	90	100	110	120
ADSLNEFKFQ	CIGDAETDDE	MCIARSLQEF	ATVLRNLEDE	RIRMIENASE	VLITPLEKFR
130	140	150	160	170	180
KEQIGAAKEA	KKKYDKETEK	YCGILEKHLN	LSSKKKESQL	QEADSQVDLV	RQHFYEVSLE
190	200	210	220	230	240
YVFKVQEVQE	RKMFEFVEPL	LAFLQGLFTF	YHHGYELAKD	FGDFKTQLTI	SIQNTRNRFE
250	260	270	280	290	300
GTRSEVESLM	KKMKENPLEH	KTISPYTMEG	YLYVQEKRHF	GTSWVKHYCT	YQRDSKQITM
310	320	330	340	350	360
VPFDQKSGGK	GGEDESVILK	SCTRRKTDSI	EKRFCFDVEA	VDRPGVITMQ	ALSEEDRRLW
370	380	390	400	410	420
MEAMDGREPV	YNSNKDSQSE	GTAQLDSIGF	SIIRKCIHAV	ETRGINEQGL	YRIVGVNSRV
430	440	450	460	470	480
QKLLSVLMDP	KTASETETDI	CAEWEIKTIT	SALKTYLRML	PGPLMMYQFQ	RSFIKAAKLE
490	500	510	520	530	540
NQESRVSEIH	SLVHRLPEKN	RQMLQLLMNH	LANVANNHKQ	NLMTVANLGV	VFGPTLLRPQ
550	560	570	580	590	600
EETVAAIMDI	KFQNIVIEIL	IENHEKIFNT	VPDMPLTNAQ	LHLSRKKSSD	SKPPSCSERP
610	620	630	640	650	660
LTLFHTVQST	EKQEQRNSII	NSSLESVSSN	PNSILNSSSS	LQPNMNSSDP	DLAVVKPTRP
670	680	690	700	710	720
NSLPPNPSPT	SPLSPSWPMF	SAPSSPMPTS	STSSDSSPVR	SVAGFVWFSV	AAVVLSLARS
730	740	750	760	770	780
SLHAVFSLLV	NFVPCHPNLH	LLFDRPEEAV	HEDSSTPFRK	AKALYACKAE	HDSELSFTAG
790	800	810
TVFDNVHPSQ	EPGWLEGTLN	GKTGLIPENY	VEFL