AiPD: Autoinhibited Protein Database

Q9UJY4

Gene name	GGA2 (KIAA1080)
Protein name	ADP-ribosylation factor-binding protein GGA2
Names	Gamma-adaptin-related protein 2 , Golgi-localized, gamma ear-containing, ARF-binding protein 2 , VHS domain and ear domain of gamma-adaptin , Vear
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23062
EC number
Protein Class

Descriptions

The cytosolic adaptors GGA1-3 mediate sorting of transmembrane proteins. GGA1 contains an autoinhibitory region in hinge region between GAT and GAE domains that is activated by the phosphorylation of a serine positioned three residues upstream of the DXXLL motif. Autoinhibition is achieved by the interaction between DXXLL site and the VHS domain in CGGA1, and the phosphoserine upstream of the DXXLL motif facilitates this interaction.

Autoinhibitory domains (AIDs)

367-374 (Autoinhibitory site in hinge region) SS

Target domain	24-163 (VHS domain)
Relief mechanism	PTM
Assay

AID

367-374 (Autoinhibitory site in hinge region)

Target domain

24-163 (VHS domain)

Relief mechanism

PTM (Phosphorylation of S355)

Assay

Accessory elements

No accessory elements

References

Cramer JF et al. (2010) "GGA autoinhibition revisited", Traffic (Copenhagen, Denmark), 11, 259-73

Autoinhibited structure

Activated structure

2 structures for Q9UJY4

Entry ID	Method	Resolution	Chain	Position	Source
1MHQ	X-ray	220 A	A/B	25-172	PDB
AF-Q9UJY4-F1	Predicted				AlphaFoldDB

695 variants for Q9UJY4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1467448752	2	A>V		No	gnomAD
rs1210270741	3	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1266944061	4	T>A		No	gnomAD
rs1221943625	4	T>I		No	1000Genomes gnomAD
rs1232206926	5	A>S		No	gnomAD
rs1488746169	5	A>V		No	gnomAD
rs1250829174	6	V>M		No	TOPMed gnomAD
rs759483473	8	A>S		No	ExAC gnomAD
rs1453640906	8	A>V		No	Ensembl
rs1965026397	9	A>G		No	TOPMed
rs766109591	9	A>T		No	ExAC TOPMed gnomAD
TCGA novel	10	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1190442904	12	G>V		No	Ensembl
rs866871754	13	T>A		No	Ensembl
rs1411699429	13	T>I		No	TOPMed gnomAD
rs1411699429	13	T>S		No	TOPMed gnomAD
rs1316346528	14	E>G		No	gnomAD
rs1965026076	14	E>Q		No	Ensembl
rs1965026014	15	S>A		No	1000Genomes gnomAD
rs1168367683	15	S>L		No	TOPMed
rs1965026014	15	S>P		No	1000Genomes gnomAD
rs1416620176	16	A>V		No	gnomAD
rs1172556570	17	Q>H		No	gnomAD
rs1965025833	18	G>D		No	Ensembl
rs940386073	18	G>S		No	1000Genomes TOPMed gnomAD
rs762746067	19	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs1034211931	19	P>H		No	TOPMed gnomAD
rs1034211931	19	P>R		No	TOPMed gnomAD
rs762746067	19	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs762746067	19	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs1051516168	20	P>L		No	TOPMed gnomAD
rs1321811752	21	G>D		No	TOPMed gnomAD
rs1321811752	21	G>V		No	TOPMed gnomAD
rs769476854	22	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs769476854	22	P>Q		No	1000Genomes ExAC TOPMed gnomAD
rs769476854	22	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs1213072049	22	P>S		No	gnomAD
rs1279211899	23	A>S		No	gnomAD
rs1279211899	23	A>T		No	gnomAD
rs1199856808	23	A>V		No	gnomAD
rs1299565146	25	S>L		No	gnomAD
rs1364778168	26	L>P		No	gnomAD
rs1268683679	27	E>*		No	TOPMed gnomAD
rs1359876610	27	E>D		No	gnomAD
rs1450271285	27	E>G		No	TOPMed gnomAD
rs1268683679	27	E>K		No	TOPMed gnomAD
rs1268683679	27	E>Q		No	TOPMed gnomAD
rs1334081438	28	L>M		No	gnomAD
rs1433408583	28	L>Q		No	gnomAD
rs1429948394	29	W>*		No	gnomAD
rs776177345	29	W>G		No	ExAC TOPMed gnomAD
rs776177345	29	W>R		No	ExAC TOPMed gnomAD
rs1418308867	30	L>F		No	gnomAD
rs1418308867	30	L>I		No	gnomAD
rs974675998	30	L>P		No	gnomAD
rs1167730693	31	N>H		No	TOPMed gnomAD
rs972305150	31	N>S		No	TOPMed gnomAD
rs1029239688	34	T>A		No	gnomAD
rs761488307	35	D>E		No	ExAC gnomAD
rs764984753	35	D>N		No	ExAC TOPMed gnomAD
rs1315698072	36	P>L		No	gnomAD
rs1455238369	36	P>S		No	TOPMed
rs1964847054	37	S>N		No	gnomAD
rs1964847010	37	S>R		No	TOPMed gnomAD
rs763602720	38	M>K		No	ExAC TOPMed gnomAD
rs776171544	38	M>V		No	ExAC TOPMed gnomAD
rs200764317	39	S>L		No	1000Genomes ExAC TOPMed gnomAD
rs200764317	39	S>W		No	1000Genomes ExAC TOPMed gnomAD
rs1438267670	44	S>A		No	gnomAD
rs772691810	45	A>P		No	ExAC gnomAD
rs1320671169	49	F>S		No	gnomAD
rs1964846672	50	C>S		No	gnomAD
rs1452917444	51	E>K		No	TOPMed gnomAD
rs746425761	52	Q>L		No	ExAC TOPMed gnomAD
rs746425761	52	Q>P		No	ExAC TOPMed gnomAD
rs1433542351	53	V>E		No	gnomAD
rs1178204038	53	V>M		No	gnomAD
rs774743881	55	T>A		No	ExAC TOPMed gnomAD
rs1191907378	57	P>S		No	gnomAD
rs1451572168	58	N>I		No	TOPMed gnomAD
rs1451572168	58	N>S		No	TOPMed gnomAD
rs1248683376	59	G>D		No	TOPMed gnomAD
rs1306496912	60	P>H		No	TOPMed
rs1306496912	60	P>L		No	TOPMed
rs760076518	61	T>I		No	ExAC gnomAD
rs1352861234 COSM968785	63	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
COSM3507829	65	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1964828397	65	W>L		No	TOPMed
rs900532886	66	L>I		No	TOPMed gnomAD
rs372562760	66	L>P		No	ESP ExAC TOPMed gnomAD
rs1354709486	67	L>V		No	gnomAD
rs1411420274	68	A>T		No	gnomAD
rs748411780	68	A>V		No	ExAC gnomAD
rs781211448	69	H>R		No	ExAC gnomAD
rs1167488673	69	H>Y		No	gnomAD
rs1964827916	70	K>E		No	gnomAD
rs745748651	70	K>N		No	ExAC gnomAD
rs369281290	70	K>R		No	ESP ExAC TOPMed gnomAD
rs557919122	73	S>F		No	gnomAD
rs778720821	74	P>L		No	ExAC TOPMed gnomAD
rs1439597933	74	P>T		No	TOPMed
rs753561121	75	Q>P		No	ExAC gnomAD
rs558594250	76	E>K		No	1000Genomes
rs777671308	77	K>E		No	ExAC gnomAD
rs755795228	77	K>M		No	ExAC gnomAD
rs752425706	78	E>K		No	ExAC TOPMed gnomAD
rs1964827202	81	Y>*		No	Ensembl
rs767084209	81	Y>H		No	ExAC gnomAD
rs1964827169	82	A>S		No	TOPMed gnomAD
rs138397318	83	L>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs766785841	84	T>M		No	ExAC TOPMed gnomAD
rs1372863814	87	E>D		No	TOPMed gnomAD
rs145830611	87	E>G		No	ESP ExAC TOPMed gnomAD
rs776529428	88	M>I		No	ExAC gnomAD
rs748138963	88	M>V		No	ExAC gnomAD
rs1418099938	89	C>Y		No	TOPMed gnomAD
rs140282248	90	M>L		No	ESP ExAC TOPMed gnomAD
rs1964814669	90	M>T		No	Ensembl
rs140282248	90	M>V		No	ESP ExAC TOPMed gnomAD
rs746588777	91	N>I		No	ExAC gnomAD
rs746588777	91	N>S		No	ExAC gnomAD
rs1555500317	93	C>F		No	Ensembl
rs1418454965	93	C>R		No	gnomAD
rs1484529998	94	G>E		No	gnomAD
rs779762062	94	G>R		No	ExAC gnomAD
rs1234409839	95	E>K		No	gnomAD
rs969614986	96	K>N		No	TOPMed gnomAD
TCGA novel	97	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2142133125 RCV001839210	100	E>K		No	ClinVar Ensembl dbSNP
rs143003037 COSM968784	105	R>C	skin endometrium [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs143003037	105	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs754373988	105	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs372013915	108	N>S		No	ESP
rs752791823	109	E>*		No	ExAC TOPMed gnomAD
rs1964813760	109	E>G		No	Ensembl
COSM275286 rs752791823	109	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752791823	109	E>Q		No	ExAC TOPMed gnomAD
rs1964813724	110	L>V		No	Ensembl
TCGA novel	111	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767773367	112	K>E		No	ExAC gnomAD
rs1299118417	112	K>T		No	gnomAD
rs1379376238	114	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs367713045	115	S>C		No	ESP ExAC TOPMed gnomAD
rs367713045	115	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs766600629	116	P>A		No	ExAC gnomAD
rs373357055	116	P>R		No	Ensembl
rs1462545241	117	K>E		No	gnomAD
COSM1376794	118	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1486917347	119	L>V		No	TOPMed gnomAD
rs759139238	121	S>C		No	ExAC gnomAD
rs994116759	122	W>R		No	TOPMed
rs1269409580	123	A>T		No	TOPMed gnomAD
rs1282941953	126	K>E		No	gnomAD
rs1371237507	126	K>N		No	gnomAD
rs770357700	126	K>R		No	ExAC TOPMed gnomAD
rs201963634	127	V>I		No	1000Genomes TOPMed
rs201963634	127	V>L		No	1000Genomes TOPMed
rs777203576	130	R>S		No	ExAC gnomAD
rs1964791280	132	I>T		No	Ensembl
rs1964791326	132	I>V		No	gnomAD
rs1964791180	135	L>F		No	TOPMed gnomAD
rs781573550	136	F>Y		No	ExAC gnomAD
rs755410939	138	W>C		No	ExAC TOPMed gnomAD
rs1175312510	138	W>R		No	gnomAD
rs1187213744	139	T>A		No	TOPMed gnomAD
rs1964790705	141	W>*		No	TOPMed
rs370050570	141	W>L		No	ESP ExAC TOPMed gnomAD
rs758751355	143	P>L		No	ExAC TOPMed gnomAD
rs201313210	144	E>Q		No	TOPMed gnomAD
rs79515799	145	D>N		No	ESP ExAC TOPMed gnomAD
rs79515799	145	D>Y		No	ESP ExAC TOPMed gnomAD
rs375715093	146	I>V		No	ESP ExAC TOPMed gnomAD
rs752597627	147	K>E		No	ExAC TOPMed gnomAD
rs752597627	147	K>Q		No	ExAC TOPMed gnomAD
rs767242790	147	K>R		No	ExAC TOPMed gnomAD
COSM183411 rs774194384	149	R>*	Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs145056081	149	R>L		No	ESP ExAC TOPMed gnomAD
rs145056081	149	R>Q		No	ESP ExAC TOPMed gnomAD
rs772745327	150	D>N		No	ExAC TOPMed gnomAD
rs373320474	151	A>T		No	ESP ExAC TOPMed gnomAD
rs1964789783	152	Y>N		No	TOPMed gnomAD
rs1567365721	153	Q>*		No	Ensembl
rs1415155840	154	M>I		No	gnomAD
rs769357196	155	L>M		No	ExAC TOPMed gnomAD
rs1285929903	161	I>M		No	TOPMed gnomAD
rs1250778684	161	I>T		No	TOPMed gnomAD
rs1394422343	161	I>V		No	TOPMed gnomAD
rs942364913	162	K>E		No	TOPMed gnomAD
rs1596986746	164	D>E		No	TOPMed
rs761229140	164	D>H		No	ExAC TOPMed gnomAD
rs761229140	164	D>N		No	ExAC TOPMed gnomAD
rs202161732	165	P>L		No	ExAC TOPMed gnomAD
rs1964745697	167	L>P		No	TOPMed gnomAD
rs1282405096	168	P>S		No	gnomAD
rs747560419	169	V>L		No	ExAC TOPMed gnomAD
rs1567364599	170	D>G		No	TOPMed
rs1567364599 COSM1323648	170	D>V	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs1964745425	172	I>V		No	gnomAD
rs368831806	173	L>F		No	ESP ExAC gnomAD
rs540176677	176	P>S		No	1000Genomes ExAC gnomAD
rs967124377	178	P>A		No	TOPMed gnomAD
rs779006805	178	P>L		No	ExAC TOPMed gnomAD
rs967124377	178	P>T		No	TOPMed gnomAD
rs777876759	179	W>R		No	ExAC gnomAD
rs1160859977 COSM363751	180	P>S	lung [Cosmic]	No	cosmic curated gnomAD
rs1596986699	181	K>E		No	Ensembl
rs539319428	181	K>R		No	1000Genomes TOPMed gnomAD
rs773150787	184	I>T		No	Ensembl
rs369932812	184	I>V		No	ESP ExAC TOPMed gnomAD
rs1252603108	185	F>C		No	TOPMed gnomAD
TCGA novel rs1252603108	185	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1177556612	186	D>G		No	gnomAD
rs1429268975	190	E>K		No	TOPMed gnomAD
COSM968783 rs1371355181	192	S>Y	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs570855466	193	K>E		No	1000Genomes ExAC gnomAD
rs1567363872 COSM3420863	194	L>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1233851252	194	L>R		No	TOPMed gnomAD
rs371749122	198	L>F		No	ESP ExAC TOPMed gnomAD
rs1964719026	198	L>H		No	gnomAD
COSM4827311	199	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	200	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1427100276	201	S>N		No	gnomAD
rs1296950019	201	S>R		No	gnomAD
rs1340573969	202	N>S		No	TOPMed
rs778809190 COSM3370366	203	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs753569684	203	H>Q		No	ExAC TOPMed gnomAD
rs763638499	204	P>R		No	ExAC gnomAD
COSM6144088	205	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs752321425	205	E>K		No	ExAC TOPMed gnomAD
rs767897040	207	L>F		No	ExAC TOPMed gnomAD
rs767897040	207	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs149952041	207	L>P		No	ESP
rs760133186	208	Q>*		No	ExAC gnomAD
rs1422810830	208	Q>R		No	gnomAD
rs774544339	209	A>V		No	ExAC gnomAD
rs549649016	212	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs549649016	212	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs771354194	212	R>W		No	ExAC TOPMed gnomAD
COSM281360	213	L>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs770071501	213	L>F		No	ExAC gnomAD
rs748217389	215	K>E		No	ExAC gnomAD
rs1964717827	215	K>R		No	Ensembl
rs1489331370	217	L>F		No	TOPMed gnomAD
rs1338901433	219	K>E		No	gnomAD
rs1964717600	219	K>N		No	Ensembl
rs771872938	219	K>R		No	ExAC gnomAD
rs1964717540	220	E>V		No	Ensembl
rs1395109618	221	E>D		No	TOPMed gnomAD
rs1270036760	221	E>G		No	gnomAD
rs1380310808	222	Q>*		No	TOPMed
rs1964709786	223	E>G		No	TOPMed
rs1567363617 COSM968782	225	S>L	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs1964709738	225	S>T		No	TOPMed
rs200992596	226	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs776534413	226	E>V		No	ExAC gnomAD
rs1439355349	227	K>N		No	gnomAD
rs1277488100	228	V>L		No	gnomAD
TCGA novel rs1964709293	230	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
TCGA novel	230	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs535749513	230	K>T		No	Ensembl
rs745736973	231	R>S		No	ExAC TOPMed gnomAD
rs1358127233	232	V>F		No	TOPMed gnomAD
rs567413126	233	S>R		No	1000Genomes ExAC
rs771058001	234	A>V		No	ExAC TOPMed gnomAD
rs777759899	238	V>A		No	ExAC gnomAD
rs370781819	239	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA gnomAD
COSM3721927 rs780516710	239	R>Q	upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754527390	240	S>R		No	ExAC TOPMed gnomAD
rs1964708723	241	H>R		No	TOPMed
rs1306691983	241	H>Y		No	gnomAD
rs1964708546	243	K>N		No	TOPMed
rs751100341	243	K>R		No	ExAC gnomAD
rs1183836430	244	V>G		No	TOPMed gnomAD
rs1292815290	244	V>M		No	gnomAD
rs1045193081	246	Q>K		No	Ensembl
COSM702984	247	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766898824	248	M>T		No	ExAC gnomAD
rs1964708290	248	M>V		No	gnomAD
rs1964708193	249	L>Q		No	TOPMed
rs758957059	250	S>T		No	ExAC TOPMed gnomAD
rs1404242010	251	M>I		No	TOPMed gnomAD
rs750759673	251	M>L		No	ExAC TOPMed gnomAD
rs1964708002	251	M>T		No	Ensembl
rs750759673	251	M>V		No	ExAC TOPMed gnomAD
rs1964707859	252	Y>C		No	Ensembl
rs1399511142	252	Y>H		No	TOPMed
rs764416125 COSM968781	253	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM297048	253	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs761975985	253	R>H		No	ExAC TOPMed gnomAD
rs761975985	253	R>L		No	ExAC TOPMed gnomAD
rs1334287026	254	R>G		No	TOPMed
rs201102052	254	R>S		No	ESP ExAC TOPMed gnomAD
rs968610019	256	G>R		No	TOPMed gnomAD
rs2142126191	257	Q>K		No	Ensembl
rs139929528	258	A>S		No	ESP gnomAD
rs1964707430	258	A>V		No	TOPMed
rs775489102	259	P>L		No	ExAC TOPMed gnomAD
rs988469550	260	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1705012909	261	D>E		No	TOPMed
rs200012552	261	D>N		No	ESP ExAC TOPMed gnomAD
rs1964707035	263	E>D		No	TOPMed gnomAD
TCGA novel	263	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs747694452	264	A>T		No	ExAC gnomAD
rs367831044	267	V>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1964667724	267	V>I		No	TOPMed
rs547953824	268	V>L		No	ExAC TOPMed gnomAD
rs547953824	268	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1396429436	269	Y>C		No	TOPMed gnomAD
rs1396429436	269	Y>F		No	TOPMed gnomAD
rs779390978	270	E>K		No	ExAC TOPMed gnomAD
rs375715462	271	R>G		No	ESP ExAC TOPMed gnomAD
rs142255554	271	R>K		No	ESP ExAC TOPMed gnomAD
rs142255554	271	R>M		No	ESP ExAC TOPMed gnomAD
rs1170534380	271	R>S		No	TOPMed gnomAD
rs756316108	272	C>Y		No	ExAC TOPMed gnomAD
rs752989795	276	R>Q		No	ExAC TOPMed gnomAD
rs1420706698	276	R>W		No	TOPMed gnomAD
COSM183409 rs751749491	278	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs761697193	279	L>R		No	ExAC gnomAD
rs763821574	280	F>L		No	ExAC TOPMed gnomAD
rs760321001	281	R>G		No	ExAC TOPMed gnomAD
rs148723605	281	R>L		No	ESP ExAC TOPMed gnomAD
rs148723605	281	R>Q		No	ESP ExAC TOPMed gnomAD
rs760321001	281	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1964666579	282	L>S		No	TOPMed
rs1567362442	283	A>P		No	Ensembl
rs144247430	283	A>V		No	ESP ExAC TOPMed gnomAD
rs771433958	284	S>N		No	ExAC TOPMed gnomAD
rs1393383751	287	T>I		No	TOPMed gnomAD
rs756447749	288	D>G		No	ExAC TOPMed gnomAD
rs117323704	288	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1397313121	289	D>G		No	gnomAD
rs781558727	290	D>N		No	ExAC gnomAD
rs755302527	291	D>E		No	ExAC
rs751659774	292	A>V		No	ExAC TOPMed gnomAD
rs202075370	293	L>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1964665737	293	L>P		No	Ensembl
rs1273177310	293	L>V		No	TOPMed gnomAD
rs768112093	294	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs768112093	294	A>T		No	ExAC TOPMed gnomAD
rs146363257 COSM1376793	294	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1964637711	295	E>K		No	TOPMed
rs763927624	299	A>E		No	ExAC TOPMed gnomAD
rs750586806	299	A>T		No	ExAC gnomAD
rs763927624	299	A>V		No	ExAC TOPMed gnomAD
rs756090953	300	N>D		No	ExAC TOPMed gnomAD
rs1350077242	301	D>G		No	gnomAD
COSM1301751	301	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3888226	302	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1376792	304	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs759135198	304	T>I		No	ExAC gnomAD
rs767328634	304	T>P		No	ExAC TOPMed gnomAD
rs767328634	304	T>S		No	ExAC TOPMed gnomAD
rs1964637125	305	Q>E		No	gnomAD
rs1360292836	307	V>F		No	TOPMed gnomAD
rs1360292836 COSM434924	307	V>I	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1964637004	308	L>M		No	Ensembl
rs1964636812	310	Y>*		No	Ensembl
rs1964636889	310	Y>C		No	Ensembl
rs1964636889	310	Y>S		No	Ensembl
rs759264998	312	Q>*		No	Ensembl
rs1964636685	313	V>M		No	TOPMed
rs1408860538	314	M>L		No	Ensembl
rs1408860538	314	M>V		No	Ensembl
rs1964636588	315	E>D		No	Ensembl
rs1417516276	316	G>A		No	gnomAD
rs142146460	317	R>Q		No	ESP ExAC TOPMed gnomAD
rs1023217523	317	R>W		No	TOPMed gnomAD
rs1964636307	318	V>G		No	TOPMed
rs1964636274	319	T>I		No	TOPMed
rs762363621	320	F>S		No	ExAC gnomAD
rs1964636069	321	G>A		No	gnomAD
rs1964636036	322	N>D		No	Ensembl
rs976386990	324	V>A		No	TOPMed gnomAD
rs1964635959	324	V>L		No	gnomAD
rs1964635959	324	V>M		No	gnomAD
TCGA novel	325	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1964635815	325	T>S		No	TOPMed
rs1964635689	329	G>A		No	Ensembl
rs1486760578	331	I>F		No	gnomAD
rs1199930317	332	P>S		No	gnomAD
rs1352853955 COSM335819	333	V>I	lung [Cosmic]	No	cosmic curated TOPMed
rs181597418 COSM1749493	334	S>C	urinary_tract [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs181597418	334	S>F		No	1000Genomes ExAC TOPMed gnomAD
rs138560859	334	S>T		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1301750	335	R>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4456390	336	V>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1964635106	336	V>L		No	gnomAD
rs746561948	338	Q>H		No	TOPMed gnomAD
rs1471915131	338	Q>R		No	TOPMed gnomAD
rs775975158	339	N>S		No	ExAC TOPMed gnomAD
rs1964626169	340	P>S		No	Ensembl
rs369710113	341	A>T		No	ESP ExAC TOPMed gnomAD
rs1003695217	341	A>V		No	Ensembl
rs1457421553	342	G>V		No	gnomAD
rs2142120846	343	C>F		No	Ensembl
rs2142120846	343	C>Y		No	Ensembl
rs1964625852	344	M>R		No	TOPMed gnomAD
rs906707561	346	T>A		No	Ensembl
rs1964625774	346	T>I		No	Ensembl
TCGA novel	346	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1964625688	347	C>F		No	TOPMed
rs746130243	348	P>L		No	ExAC TOPMed gnomAD
rs1224444298	348	P>T		No	gnomAD
rs748011199	349	L>M		No	ExAC gnomAD
rs200346354	349	L>P		No	1000Genomes ExAC gnomAD
rs1596980933	350	I>T		No	Ensembl
rs1240239840	350	I>V		No	gnomAD
rs1245846642	352	L>M		No	TOPMed
rs754964377	354	V>L		No	ExAC TOPMed gnomAD
rs1438550425	355	D>G		No	gnomAD
rs150117942	356	N>D		No	ESP TOPMed gnomAD
rs1403453223	356	N>S		No	TOPMed gnomAD
COSM968779	358	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs982353428	358	P>L		No	TOPMed gnomAD
rs982353428	358	P>R		No	TOPMed gnomAD
rs373542228	358	P>S		No	Ensembl
rs1964624924	359	A>S		No	Ensembl
rs532678467	359	A>V		No	ExAC TOPMed gnomAD
rs1322005982	361	M>L		No	TOPMed gnomAD
rs2142120765	361	M>T		No	Ensembl
rs1349725256	362	G>E		No	TOPMed gnomAD
rs1439098123	362	G>W		No	gnomAD
rs764773602	364	V>L		No	ExAC gnomAD
rs764773602	364	V>M		No	ExAC gnomAD
rs200560596	365	V>G		No	ExAC TOPMed gnomAD
rs756826817	365	V>L		No	ExAC gnomAD
rs1280646516	366	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1246691472	368	L>S		No	gnomAD
rs1964624301	369	L>F		No	TOPMed gnomAD
rs1964624263	369	L>P		No	Ensembl
rs758871543	370	H>L		No	ExAC TOPMed gnomAD
rs758871543	370	H>P		No	ExAC TOPMed gnomAD
rs758871543	370	H>R		No	ExAC TOPMed gnomAD
rs1219812595	370	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs199872843	371	Q>H		No	ExAC TOPMed gnomAD
rs1240440775	373	L>V		No	TOPMed gnomAD
COSM3969461	374	A>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs759614909	374	A>T		No	ExAC gnomAD
rs1304271551	375	A>G		No	gnomAD
rs1964623992	375	A>P		No	gnomAD
rs1304271551	375	A>V		No	gnomAD
TCGA novel	377	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs990940148	378	I>L		No	TOPMed
rs1331204595	378	I>M		No	gnomAD
rs990940148	378	I>V		No	TOPMed
rs774236035	379	S>N		No	ExAC TOPMed gnomAD
rs561256315	381	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1294462724	382	P>A		No	TOPMed gnomAD
rs1381715760	382	P>L		No	TOPMed gnomAD
rs1294462724	382	P>T		No	TOPMed gnomAD
rs1457766089	383	V>I		No	TOPMed gnomAD
rs1384221565	384	T>I		No	gnomAD
rs748878746	385	G>D		No	ExAC TOPMed gnomAD
rs1964611500	386	M>I		No	Ensembl
rs1380404984	386	M>L		No	TOPMed gnomAD
rs2142119855 COSM968778	386	M>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1380404984	386	M>V		No	TOPMed gnomAD
rs1964605393	389	G>A		No	TOPMed gnomAD
rs1964605393	389	G>D		No	TOPMed gnomAD
TCGA novel rs1964605341	390	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1964605341	390	Q>E		No	TOPMed
rs961606916	392	C>R		No	gnomAD
rs577676484	392	C>S		No	TOPMed gnomAD
rs751719704	393	C>F		No	ExAC TOPMed gnomAD
rs751719704	393	C>Y		No	ExAC TOPMed gnomAD
rs1269045324	399	P>H		No	TOPMed
rs778695935	400	S>F		No	ExAC TOPMed gnomAD
rs2142119460	401	S>C		No	Ensembl
rs1567360787	402	S>G		No	Ensembl
COSM3507825 rs1281993791	403	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs554127818	405	P>A		No	1000Genomes
COSM4920130	405	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760267372	407	G>S		No	ExAC TOPMed gnomAD
rs867070969	408	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs373557447	409	V>G		No	ESP ExAC TOPMed gnomAD
rs1402933003	409	V>I		No	gnomAD
rs1458242630	411	N>K		No	TOPMed
rs1596979740	411	N>T		No	Ensembl
rs1372407843	411	N>Y		No	Ensembl
rs1299032288	412	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs750044053	413	S>C		No	Ensembl
rs1430034028	414	A>V		No	TOPMed gnomAD
rs758952030	415	D>E		No	ExAC TOPMed gnomAD
rs147977624	415	D>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1964604124	415	D>N		No	Ensembl
rs1415518292	416	R>S		No	gnomAD
rs773959007	419	L>P		No	ExAC TOPMed gnomAD
rs773959007	419	L>Q		No	ExAC TOPMed gnomAD
rs771308624	420	D>A		No	ExAC TOPMed gnomAD
rs369266260	421	L>F		No	ESP ExAC gnomAD
rs369266260	421	L>V		No	ESP ExAC gnomAD
rs770295812	422	L>F		No	ExAC TOPMed gnomAD
rs770295812	422	L>V		No	ExAC TOPMed gnomAD
TCGA novel	423	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1267548429	424	A>E		No	TOPMed gnomAD
VAR_028275 rs1135045	424	A>P		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1135045	424	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2142119359	426	P>S		No	Ensembl
TCGA novel	427	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1032124080	427	A>P		No	gnomAD
rs1032124080	427	A>S		No	gnomAD
rs751579007	428	P>L		No	ExAC TOPMed gnomAD
rs2142119343	429	C>W		No	Ensembl
rs780214963	429	C>Y		No	ExAC gnomAD
rs1489013290	430	P>R		No	TOPMed gnomAD
rs1222901415	432	N>S		No	TOPMed gnomAD
rs1460849442	434	V>I		No	gnomAD
rs376619559	435	S>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1352338120	435	S>P		No	TOPMed gnomAD
rs1384101050	438	S>C		No	gnomAD
rs1181263824	440	P>T		No	gnomAD
rs547107680	441	K>R		No	1000Genomes ExAC gnomAD
rs1964559756	442	E>G		No	Ensembl
rs1964559693	443	V>M		No	Ensembl
rs1195010500	446	G>D		No	TOPMed gnomAD
rs1479538546	448	K>E		No	gnomAD
rs1267396659	449	S>T		No	TOPMed gnomAD
TCGA novel	450	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs964980675	450	S>P		No	TOPMed
rs1469390771	451	P>A		No	TOPMed
rs751236894	452	G>R		No	ExAC gnomAD
rs11540711 COSM3706946	452	G>V	liver [Cosmic]	No	cosmic curated Ensembl
rs144370069	453	W>*		No	ESP ExAC TOPMed gnomAD
rs144370069	453	W>C		No	ESP ExAC TOPMed gnomAD
rs1242476354	454	S>C		No	TOPMed gnomAD
rs1242476354	454	S>F		No	TOPMed gnomAD
COSM4830594	455	W>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1416260775	457	A>D		No	TOPMed gnomAD
rs1416260775	457	A>G		No	TOPMed gnomAD
rs757977075	457	A>T		No	ExAC gnomAD
rs1416260775	457	A>V		No	TOPMed gnomAD
rs1374920969	458	G>A		No	TOPMed gnomAD
COSM968776 rs765809092	459	P>L	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs868082500	459	P>S		No	Ensembl
rs865953469	462	P>L		No	gnomAD
rs764534799	462	P>S		No	ExAC gnomAD
rs760746101	463	S>F		No	ExAC TOPMed gnomAD
rs2142116536	463	S>T		No	Ensembl
rs1181018776	465	S>A		No	gnomAD
rs1964558539	468	N>K		No	Ensembl
rs1231618870	468	N>T		No	TOPMed
rs372255357	469	T>I		No	ESP ExAC TOPMed gnomAD
rs1176238641	470	P>R		No	gnomAD
rs774451751	470	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs748104955	472	A>D		No	ExAC gnomAD
rs780790854	473	Q>P		No	ExAC gnomAD
rs1016450871	474	V>A		No	TOPMed
rs1351512005	476	V>F		No	TOPMed gnomAD
rs1964558057	477	P>L		No	gnomAD
rs754805524	477	P>S		No	ExAC TOPMed gnomAD
rs1964557913	478	L>W		No	TOPMed gnomAD
rs145747722	479	E>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs749914872	480	S>P		No	ExAC TOPMed gnomAD
TCGA novel	483	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs766654195	486	L>V		No	ExAC TOPMed gnomAD
rs149792096	487	P>L		No	ESP gnomAD
rs149792096	487	P>R		No	ESP gnomAD
rs1365009070	487	P>S		No	TOPMed
rs774314067	489	L>F		No	Ensembl
rs769436325	491	V>L		No	ExAC TOPMed gnomAD
rs769436325	491	V>M		No	ExAC TOPMed gnomAD
rs1269230682	492	Y>C		No	TOPMed gnomAD
rs1269230682	492	Y>S		No	TOPMed gnomAD
rs1964491808	493	D>Y		No	TOPMed
rs202188100	494	R>L		No	ExAC TOPMed gnomAD
rs202188100	494	R>Q		No	ExAC TOPMed gnomAD
rs1224533666	494	R>W		No	gnomAD
rs1157697758	495	N>Y		No	gnomAD
rs745823263	496	G>R		No	ExAC TOPMed gnomAD
COSM1563184 rs760553146	496	G>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1964491478	497	F>L		No	TOPMed
rs772000231	505	Q>R		No	ExAC gnomAD
rs201439823	506	T>M		No	ExAC TOPMed gnomAD
TCGA novel	507	G>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1964491175	507	G>R		No	TOPMed
rs1385979236	508	A>D		No	TOPMed gnomAD
rs1446470734	508	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
TCGA novel	509	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1567357637	511	H>Y		No	Ensembl
rs1359951430	513	E>D		No	TOPMed gnomAD
rs1443305982	513	E>G		No	gnomAD
rs1423582781	513	E>Q		No	gnomAD
rs1235160334	514	V>E		No	gnomAD
rs551493440	515	Q>H		No	ExAC TOPMed gnomAD
rs1964490661	518	L>P		No	Ensembl
rs1487620821	519	L>F		No	TOPMed gnomAD
rs1271788042	520	T>I		No	gnomAD
rs139811732	521	M>I		No	ESP TOPMed gnomAD
rs1964490380	521	M>R		No	Ensembl
rs777175077	521	M>V		No	ExAC TOPMed gnomAD
rs1964490212	522	M>I		No	TOPMed
rs1567357611	522	M>V		No	Ensembl
rs1964490174	523	S>N		No	TOPMed
rs756592274	524	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1964489965	525	A>V		No	TOPMed
rs755330227	526	P>L		No	ExAC gnomAD
rs967971570	526	P>S		No	Ensembl
rs1964489810	527	Q>*		No	gnomAD
rs1964489730	527	Q>H		No	TOPMed
rs1964489770	527	Q>R		No	Ensembl
rs1334972206	528	P>S		No	gnomAD
rs1327059522	529	V>L		No	gnomAD
rs992901147	531	D>N		No	TOPMed
rs200357653	532	I>M		No	ExAC TOPMed gnomAD
rs568617546	532	I>V		No	1000Genomes ExAC gnomAD
rs1964489266	533	M>R		No	gnomAD
rs765246769	533	M>V		No	ExAC TOPMed gnomAD
rs566563362	534	F>L		No	TOPMed gnomAD
rs566563362	534	F>V		No	TOPMed gnomAD
rs760596835	536	V>A		No	ExAC gnomAD
rs1964489102	537	A>V		No	Ensembl
rs1432236992	538	V>L		No	TOPMed
rs2142112289	540	K>E		No	Ensembl
rs775567103	540	K>N		No	ExAC TOPMed gnomAD
rs150611801	542	M>V		No	ESP ExAC TOPMed gnomAD
rs2142111600	544	V>E		No	Ensembl
rs1797913406	544	V>M		No	TOPMed
rs765564100	545	K>R		No	ExAC gnomAD
rs377173596	546	L>M		No	ESP ExAC TOPMed gnomAD
rs377173596	546	L>V		No	ESP ExAC TOPMed gnomAD
rs754024013	548	P>L		No	ExAC gnomAD
rs866120320	549	A>T		No	Ensembl
TCGA novel	553	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1293867977	553	K>R		No	TOPMed gnomAD
rs1416488711	554	L>P		No	gnomAD
rs1567357316	559	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs774242311	559	P>S		No	ExAC TOPMed gnomAD
rs774242311	559	P>T		No	ExAC TOPMed gnomAD
rs766104456	560	L>F		No	ExAC TOPMed gnomAD
COSM968775	561	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4059399	562	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs762601848	562	P>S		No	ExAC TOPMed gnomAD
rs772738100	563	P>A		No	ExAC gnomAD
rs1964475285	563	P>L		No	Ensembl
rs1964475248	565	V>L		No	TOPMed
rs769550020	566	I>M		No	ExAC TOPMed gnomAD
rs907702433	566	I>T		No	TOPMed
rs1282835355	567	S>F		No	gnomAD
rs1297086900	567	S>P		No	TOPMed gnomAD
rs1391294091	569	M>I		No	TOPMed
rs1964474988	569	M>L		No	TOPMed
rs1964474920	570	L>V		No	TOPMed gnomAD
rs1217653717	572	L>F		No	TOPMed gnomAD
rs747635091	574	N>S		No	ExAC
rs776158618	575	P>L		No	ExAC TOPMed gnomAD
rs776158618	575	P>Q		No	ExAC TOPMed gnomAD
rs146396049	576	H>Y		No	ESP ExAC TOPMed gnomAD
rs1451634237	578	E>D		No	Ensembl
rs2142110573	578	E>K		No	Ensembl
rs1596972828	579	P>L		No	Ensembl
rs1596972828	579	P>R		No	Ensembl
rs1453960010	579	P>S		No	gnomAD
rs761476497	580	I>V		No	ExAC TOPMed gnomAD
rs948723046	581	R>C		No	TOPMed gnomAD
rs185467966	581	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs185467966	581	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs768157448	582	L>I		No	ExAC gnomAD
rs1408817959	582	L>S		No	gnomAD
rs772681875	583	R>L		No	ExAC TOPMed gnomAD
rs772681875	583	R>Q		No	ExAC TOPMed gnomAD
rs775844878	583	R>W		No	ExAC gnomAD
rs746184190	585	K>N		No	ExAC
rs142107518	588	F>L		No	ESP ExAC TOPMed gnomAD
rs2142110507	591	G>V		No	Ensembl
rs148356247	592	G>A		No	ESP TOPMed gnomAD
rs148356247	592	G>E		No	ESP TOPMed gnomAD
rs1964458438	593	Q>R		No	TOPMed
rs1176591266	594	P>H		No	TOPMed gnomAD
rs756260632	595	F>C		No	ExAC gnomAD
rs1267962276	596	S>I		No	Ensembl
rs779834299	597	E>K		No	ExAC gnomAD
rs758401729	598	V>A		No	ExAC TOPMed gnomAD
rs1393508038	599	G>A		No	TOPMed
rs749721440 COSM293742	599	G>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1964458118	599	G>R		No	TOPMed
rs750145020	600	E>K		No	ExAC TOPMed gnomAD
rs2142110459	601	V>M		No	Ensembl
rs370266306	602	K>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1374543411	603	D>A		No	TOPMed gnomAD
rs1440074473	604	F>C		No	TOPMed
rs753484122	605	P>A		No	ExAC TOPMed gnomAD
rs753484122	605	P>S		No	ExAC TOPMed gnomAD
rs1017669430	606	D>Y		No	TOPMed
rs201587696	608	A>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1007847798	610	L>S		No	gnomAD
rs199705736	610	L>V		No	1000Genomes ExAC TOPMed gnomAD
rs1007847798	610	L>W		No	gnomAD
TCGA novel	611	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs760106544	611	G>D		No	ExAC TOPMed gnomAD
rs760106544	611	G>V		No	ExAC TOPMed gnomAD
rs771430125	612	A>S		No	ExAC TOPMed gnomAD
rs771430125	612	A>T		No	ExAC TOPMed gnomAD
rs1964457105	612	A>V		No	Ensembl
TCGA novel	613	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9UJY4

5 regional properties for Q9UJY4

Type	Name	Position	InterPro Accession
domain	VHS domain	22 - 163	IPR002014
domain	GAT domain	188 - 316	IPR004152
domain	Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain	481 - 605	IPR008152
domain	Gamma-adaptin ear (GAE) domain	484 - 605	IPR008153
domain	N-terminal extension of GAT domain	188 - 224	IPR041198

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus, trans-Golgi network membrane ; Peripheral membrane protein Endosome membrane ; Peripheral membrane protein Early endosome membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
clathrin-coated vesicle	A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes.
early endosome membrane	The lipid bilayer surrounding an early endosome.
endosome membrane	The lipid bilayer surrounding an endosome.
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.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

3 GO annotations of molecular function

Name	Definition
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
small GTPase binding	Binding to a small monomeric GTPase.
ubiquitin binding	Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.

4 GO annotations of biological process

Name	Definition
Golgi to plasma membrane protein transport	The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane.
Golgi to plasma membrane transport	The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
protein localization to cell surface	A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9NZ52	GGA3	ADP-ribosylation factor-binding protein GGA3	Homo sapiens (Human)	EV
Q9UJY5	GGA1	ADP-ribosylation factor-binding protein GGA1	Homo sapiens (Human)	EV
Q8R0H9	Gga1	ADP-ribosylation factor-binding protein GGA1	Mus musculus (Mouse)	SS
Q6P5E6	Gga2	ADP-ribosylation factor-binding protein GGA2	Mus musculus (Mouse)	SS
Q8BMI3	Gga3	ADP-ribosylation factor-binding protein GGA3	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MAATAVAAAV	AGTESAQGPP	GPAASLELWL	NKATDPSMSE	QDWSAIQNFC	EQVNTDPNGP
70	80	90	100	110	120
THAPWLLAHK	IQSPQEKEAL	YALTVLEMCM	NHCGEKFHSE	VAKFRFLNEL	IKVLSPKYLG
130	140	150	160	170	180
SWATGKVKGR	VIEILFSWTV	WFPEDIKIRD	AYQMLKKQGI	IKQDPKLPVD	KILPPPSPWP
190	200	210	220	230	240
KSSIFDADEE	KSKLLTRLLK	SNHPEDLQAA	NRLIKNLVKE	EQEKSEKVSK	RVSAVEEVRS
250	260	270	280	290	300
HVKVLQEMLS	MYRRPGQAPP	DQEALQVVYE	RCEKLRPTLF	RLASDTTDDD	DALAEILQAN
310	320	330	340	350	360
DLLTQGVLLY	KQVMEGRVTF	GNRVTSSLGD	IPVSRVFQNP	AGCMKTCPLI	DLEVDNGPAQ
370	380	390	400	410	420
MGTVVPSLLH	QDLAALGISD	APVTGMVSGQ	NCCEEKRNPS	SSTLPGGGVQ	NPSADRNLLD
430	440	450	460	470	480
LLSAQPAPCP	LNYVSQKSVP	KEVPPGTKSS	PGWSWEAGPL	APSPSSQNTP	LAQVFVPLES
490	500	510	520	530	540
VKPSSLPPLI	VYDRNGFRIL	LHFSQTGAPG	HPEVQVLLLT	MMSTAPQPVW	DIMFQVAVPK
550	560	570	580	590	600
SMRVKLQPAS	SSKLPAFSPL	MPPAVISQML	LLDNPHKEPI	RLRYKLTFNQ	GGQPFSEVGE
610
VKDFPDLAVL	GAA