AiPD: Autoinhibited Protein Database

Q9UID3

Gene name	VPS51 (ANG2, C11orf2, C11orf3, FFR, PP5382)
Protein name	Vacuolar protein sorting-associated protein 51 homolog
Names	Another new gene 2 protein, Protein fat-free homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:738
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-93 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-93 (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 Q9UID3

Entry ID	Method	Resolution	Chain	Position	Source
4J2C	X-ray	180 A	B/D	33-49	PDB
AF-Q9UID3-F1	Predicted				AlphaFoldDB

674 variants for Q9UID3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000852346 rs752863502	474	F>missing	Pontocerebellar hypoplasia, type 13 [ClinVar]	Yes	ClinVar dbSNP
VAR_083138	474	F>del	PCH13; unknown pathological significance [UniProt]	Yes	UniProt
RCV001542066 VAR_083139 CA381222738 RCV000852345 rs1203009966	490	R>C	Pontocerebellar hypoplasia, type 13 PCH13; impaired association with VPS50 and VPS53 subunits; reduced levels of assembled GARP and EARP complexes [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs1590815040 RCV000852344	745	D>missing	Pontocerebellar hypoplasia, type 13 [ClinVar]	Yes	ClinVar dbSNP
CA381217491 rs1275374142	2	A>T		No	ClinGen gnomAD
CA381217496 rs1439640421	2	A>V		No	ClinGen gnomAD
CA381217506 rs766610118	4	A>G		No	ClinGen ExAC TOPMed gnomAD
rs934422727 CA223905547	4	A>T		No	ClinGen TOPMed
CA6090237 rs766610118	4	A>V		No	ClinGen ExAC TOPMed gnomAD
rs755439481 CA6090239	5	A>G		No	ClinGen ExAC TOPMed gnomAD
CA381217507 rs754247915	5	A>P		No	ClinGen ExAC TOPMed gnomAD
CA6090238 rs754247915	5	A>T		No	ClinGen ExAC TOPMed gnomAD
rs755439481 CA223905553	5	A>V		No	ClinGen ExAC TOPMed gnomAD
CA381217510 rs1194073035	6	A>T		No	ClinGen gnomAD
CA223905563 rs765807256	7	A>G		No	ClinGen ExAC TOPMed
rs962847102 CA223905560	7	A>P		No	ClinGen Ensembl
CA6090240 rs765807256	7	A>V		No	ClinGen ExAC TOPMed
rs758537539 CA6090242	9	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6090241 rs753322601	9	P>S		No	ClinGen ExAC TOPMed gnomAD
CA381217533 rs1326427707	10	S>N		No	ClinGen TOPMed gnomAD
rs747134833 CA6090244	11	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6090243 rs777921734	11	P>S		No	ClinGen ExAC gnomAD
rs757532613 CA6090245	12	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6090246 rs779664684	12	G>V		No	ClinGen ExAC gnomAD
CA223905601 rs764092824	15	P>H		No	ClinGen TOPMed gnomAD
rs749061638 CA6090247	15	P>T		No	ClinGen ExAC TOPMed gnomAD
CA381217579 rs1212936852	18	S>C		No	ClinGen TOPMed gnomAD
CA381217580 rs1212936852	18	S>F		No	ClinGen TOPMed gnomAD
rs768484102 CA6090248	19	P>S		No	ClinGen ExAC gnomAD
CA381217601 rs921803718	22	P>A		No	ClinGen TOPMed
CA223905622 rs921803718	22	P>S		No	ClinGen TOPMed
TCGA novel	23	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381217614 rs1466973145	24	G>R		No	ClinGen TOPMed gnomAD
rs774271870 CA6090250	25	E>G		No	ClinGen ExAC gnomAD
rs1215813683	25	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA381217637 rs1242690278	27	P>L		No	ClinGen gnomAD
CA381217649 rs1165689580	29	R>L		No	ClinGen gnomAD
CA6090251 rs748143996	29	R>S		No	ClinGen ExAC
CA381217654 rs1461590094	30	R>Q		No	ClinGen gnomAD
CA223905636 rs976787069	30	R>W		No	ClinGen TOPMed gnomAD
CA6090252 rs771429081	32	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1440709728 CA381217697	33	A>V		No	ClinGen gnomAD
rs760193484 CA6090254	34	H>R		No	ClinGen ExAC gnomAD
CA381217716 rs1220937246	35	G>R		No	ClinGen TOPMed
rs1269620910 CA381217729	36	M>V		No	ClinGen gnomAD
rs1590808529 CA381217749	37	L>V		No	ClinGen Ensembl
rs766029315 CA6090255	39	L>F		No	ClinGen ExAC gnomAD
rs766029315 CA6090256	39	L>I		No	ClinGen ExAC gnomAD
rs1235296140 CA381217820	41	Y>*		No	ClinGen gnomAD
rs1319997959 CA381217828	42	G>D		No	ClinGen TOPMed
CA381217823 rs1271577870	42	G>S		No	ClinGen gnomAD
CA6090257 rs759974190	44	S>L		No	ClinGen ExAC gnomAD
CA381217860 rs1212888627	45	E>K		No	ClinGen gnomAD
CA381217880 rs1284827928	46	G>R		No	ClinGen gnomAD
CA6090258 rs765753742	47	E>K		No	ClinGen ExAC gnomAD
CA6090259 rs753196138	47	E>V		No	ClinGen ExAC gnomAD
rs1240948546 CA381217912	48	A>V		No	ClinGen gnomAD
CA223905645 rs985900909	49	A>G		No	ClinGen TOPMed gnomAD
CA223905648 rs910415794	50	G>E		No	ClinGen TOPMed gnomAD
CA6090261 rs764042264	53	A>S		No	ClinGen ExAC gnomAD
rs1399406127 CA381217995	55	P>S		No	ClinGen gnomAD
rs1590808583 CA381218009	56	D>A		No	ClinGen Ensembl
CA6090262 rs751682957	56	D>N		No	ClinGen ExAC gnomAD
CA381218038 rs1286263929	58	L>P		No	ClinGen TOPMed
CA6090265 rs746159343	60	P>L		No	ClinGen ExAC gnomAD
rs781448808 CA6090264	60	P>T		No	ClinGen ExAC gnomAD
rs1283552589 CA381218747	61	T>I		No	ClinGen gnomAD
rs199696581 CA6090266	63	L>V		No	ClinGen 1000Genomes ExAC
CA6090267 rs778695738	66	A>G		No	ClinGen ExAC gnomAD
rs1212454100 CA381218812	66	A>T		No	ClinGen gnomAD
CA6090268 rs778695738	66	A>V		No	ClinGen ExAC gnomAD
CA6090269 rs772067181	67	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA6090270 rs773068702	69	D>A		No	ClinGen ExAC gnomAD
TCGA novel	69	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223905672 rs978686697	71	E>K		No	ClinGen TOPMed gnomAD
CA381218920 rs1590808626	73	Y>S		No	ClinGen Ensembl
rs1590808634 CA381218967	76	K>R		No	ClinGen Ensembl
rs758165452 CA6090289	78	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777761330 CA6090290	79	R>G		No	ClinGen ExAC
rs140845832 CA6090291	81	C>G		No	ClinGen ESP ExAC TOPMed
CA6090292 rs770416035	81	C>Y		No	ClinGen ExAC gnomAD
rs1461096393 CA381219142	82	P>L		No	ClinGen gnomAD
rs1565307908 CA381219135	82	P>S		No	ClinGen Ensembl
rs555025775 CA223905854	83	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381219183 rs769592721	85	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA381219168 rs1442928823	85	Q>K		No	ClinGen gnomAD
rs745479049 CA6090294	85	Q>R		No	ClinGen ExAC
rs1296844928 CA381219196	86	L>W		No	ClinGen TOPMed
CA381219214 rs1428514005	87	M>T		No	ClinGen TOPMed
rs1328083931 CA381219224	88	D>A		No	ClinGen TOPMed
CA381219254 rs1318748222	90	E>G		No	ClinGen TOPMed
rs763347191 CA6090297	90	E>K		No	ClinGen ExAC gnomAD
rs768972176 CA6090298	92	D>N		No	ClinGen ExAC gnomAD
CA381219329 rs1197646396	95	R>W		No	ClinGen TOPMed gnomAD
CA381219348 rs1434860273	96	Q>R		No	ClinGen TOPMed
rs1590808933 CA381219378	98	R>Q		No	ClinGen Ensembl
rs377434441 CA6090299	103	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1252981771 CA381219465	104	M>I		No	ClinGen gnomAD
CA223905884 rs992781710	106	T>I		No	ClinGen TOPMed gnomAD
CA381219497 rs992781710	106	T>N		No	ClinGen TOPMed gnomAD
rs1461620396 CA381219537	109	Y>C		No	ClinGen gnomAD
CA6090302 rs750521037	110	E>K		No	ClinGen ExAC gnomAD
rs1442905370 CA381219603	112	Y>*		No	ClinGen gnomAD
CA6090304 rs760788710	117	S>*		No	ClinGen ExAC gnomAD
TCGA novel	118	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1382739279 CA381219708	119	T>A		No	ClinGen TOPMed gnomAD
CA223909824 rs1029999391	122	I>S		No	ClinGen Ensembl
rs1254869411 CA381220292	123	R>Q		No	ClinGen TOPMed gnomAD
CA381220290 rs1194171165	123	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA223909827 rs985340822	126	K>N		No	ClinGen TOPMed
CA6090330 rs750454548	126	K>R		No	ClinGen ExAC gnomAD
rs755676326 CA6090331	127	N>K		No	ClinGen ExAC gnomAD
rs779447026 CA6090332	128	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6090333 rs758310660	131	K>Q		No	ClinGen ExAC gnomAD
rs911245369 CA223909841	132	M>V		No	ClinGen Ensembl
rs778672289 CA6090335	135	E>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1355881 CA223909848 rs994921375	138	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA381220408 rs1364182948	139	L>R		No	ClinGen gnomAD
rs772490291 CA6090339	140	A>G		No	ClinGen ExAC gnomAD
rs371673983 CA6090341	142	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345270174 CA381220426	142	N>K		No	ClinGen TOPMed
CA6090342 rs770929751	145	V>M		No	ClinGen ExAC gnomAD
rs1280235493 CA381220449	146	I>V		No	ClinGen TOPMed
CA223909885 rs138611642	147	T>I		No	ClinGen ESP
rs1590812539 CA381220460	148	D>N		No	ClinGen Ensembl
rs1565313932 CA381220474	149	F>L		No	ClinGen Ensembl
CA381220470 rs1270139632	149	F>V		No	ClinGen TOPMed
CA381220484 rs1242122125	151	A>T		No	ClinGen gnomAD
CA381220504 rs1476146408	154	S>G		No	ClinGen gnomAD
CA381220522 rs1422535406	156	T>M		No	ClinGen TOPMed gnomAD
CA223909900 rs867252838	157	L>M		No	ClinGen Ensembl
rs373727258 CA6090347	159	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs761697875 CA6090348	160	R>C		No	ClinGen ExAC gnomAD
rs767480415 CA6090349	160	R>H		No	ClinGen ExAC gnomAD
CA6090351 rs375116322	161	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6090352 rs765877173	162	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753315034 CA6090353	163	R>G		No	ClinGen ExAC gnomAD
CA381220562 rs1277774798	163	R>H		No	ClinGen TOPMed gnomAD
CA6090355 rs778422105	168	A>T		No	ClinGen ExAC TOPMed gnomAD
rs757681617 CA6090377	170	V>I		No	ClinGen ExAC gnomAD
rs568943722 CA6090379	172	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6090380 rs769706575	173	L>V		No	ClinGen ExAC
CA381220773 rs1438318311	174	L>P		No	ClinGen gnomAD
CA6090382 rs141196474	175	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs994312359 CA223910018	175	R>W		No	ClinGen gnomAD
rs1415675782 CA381220787	177	L>V		No	ClinGen TOPMed
rs371725117 CA6090383	178	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1171011717 CA381220822	182	E>*		No	ClinGen gnomAD
CA6090384 rs774767428	182	E>D		No	ClinGen ExAC gnomAD
rs1200018788 CA381220833	184	P>A		No	ClinGen TOPMed
CA381220843 rs1444474433	185	S>L		No	ClinGen gnomAD
rs1308524421 CA381220846	186	R>C	Variant assessed as Somatic; 7.617e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA381220847 rs1347950961	186	R>H		No	ClinGen TOPMed gnomAD
rs776371488 CA6090387	189	K>R		No	ClinGen ExAC gnomAD
CA381220874 rs1253770959	190	C>Y		No	ClinGen gnomAD
CA6090389 rs543553538	191	V>L		No	ClinGen ExAC TOPMed gnomAD
CA223910042 rs543553538	191	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6090390 rs752224750	193	L>R		No	ClinGen ExAC gnomAD
rs1456768148 CA381220895	194	G>C		No	ClinGen gnomAD
rs1178554856 CA381220896	194	G>V		No	ClinGen gnomAD
rs762499687 CA6090391	196	Y>C		No	ClinGen ExAC gnomAD
CA6090392 rs763705454	198	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA381220930 rs1372907310	199	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM239002 rs757550478 CA6090394	201	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA381220951 rs1402186357	203	Q>E		No	ClinGen gnomAD
rs1018118672 CA223910073	205	R>C		No	ClinGen gnomAD
rs1223032784 CA381220967	205	R>H		No	ClinGen Ensembl
rs1330555567 CA381220969	206	A>T		No	ClinGen TOPMed gnomAD
rs1371591558 CA381220974	206	A>V		No	ClinGen gnomAD
COSM3383722 rs781632162 CA6090395	208	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA223910086 rs137860347	209	V>M		No	ClinGen 1000Genomes gnomAD
CA223910088 rs868780132	212	Q>H		No	ClinGen Ensembl
CA381221009 rs1259652479	212	Q>P		No	ClinGen gnomAD
CA6090396 rs750832113	214	Q>E		No	ClinGen ExAC gnomAD
rs1274229131 CA381221024	214	Q>R		No	ClinGen TOPMed gnomAD
CA6090397 rs377180594	215	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489723771 CA381221030	215	H>Y		No	ClinGen TOPMed gnomAD
CA381221042 rs1429259734	217	P>S		No	ClinGen TOPMed gnomAD
rs990076607 CA381221058	219	F>L		No	ClinGen TOPMed gnomAD
CA6090399 rs373496992	220	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs865869532 CA223910100	220	R>S		No	ClinGen Ensembl
rs1439836494 CA381221081	223	Q>R		No	ClinGen TOPMed
CA381221093 rs1169637831	225	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1169637831 CA381221095	225	D>Y		No	ClinGen gnomAD
CA381221113 rs1251832264	227	Q>R		No	ClinGen TOPMed
rs1291780669 CA381221127	229	I>T		No	ClinGen gnomAD
CA381221141 rs1279664246	231	A>V		No	ClinGen gnomAD
CA381221143 rs867834370	232	R>C		No	ClinGen TOPMed
rs867834370 CA223910119	232	R>S		No	ClinGen TOPMed
rs201701443 CA6090402	233	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294225927 CA381221156	234	A>V		No	ClinGen gnomAD
rs1243240772 CA381221158	235	Q>E		No	ClinGen gnomAD
rs1243240772 CA381221157	235	Q>K		No	ClinGen gnomAD
CA381221171 rs1451808299	236	Q>H		No	ClinGen TOPMed gnomAD
rs1265423775 CA381221173	237	L>M		No	ClinGen gnomAD
rs1486219553 CA381221180	238	R>Q		No	ClinGen gnomAD
rs901085207 CA223910136	240	R>C		No	ClinGen TOPMed gnomAD
CA6090403 rs770562565	240	R>H		No	ClinGen ExAC TOPMed gnomAD
rs957319974 CA223910231	243	E>Q		No	ClinGen TOPMed gnomAD
rs1217990930 CA381221228	244	G>C		No	ClinGen TOPMed
CA223910236 rs1011445952	245	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6090422 rs777904590	245	G>V		No	ClinGen ExAC gnomAD
rs745643658 CA6090423	246	S>L		No	ClinGen ExAC TOPMed gnomAD
CA6090424 rs769644606	248	A>S		No	ClinGen ExAC TOPMed gnomAD
rs769644606 CA223910245	248	A>T		No	ClinGen ExAC TOPMed gnomAD
CA381221251 rs1458098114	248	A>V		No	ClinGen gnomAD
CA381221254 rs1397416441	249	P>A		No	ClinGen TOPMed
rs775394069 CA6090425	249	P>L		No	ClinGen ExAC TOPMed gnomAD
rs773946601 CA6090428	250	E>D		No	ClinGen ExAC TOPMed gnomAD
rs749238510 CA6090426	250	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6090427 rs749238510	250	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA381221275 rs1398782705	252	A>V		No	ClinGen TOPMed
CA223910279 rs981564945	253	E>K		No	ClinGen TOPMed
CA223910283 rs767180580	254	C>*		No	ClinGen ExAC gnomAD
rs1401467535 CA381221293	255	V>L		No	ClinGen TOPMed gnomAD
CA381221297 rs1590812858	256	E>K		No	ClinGen Ensembl
rs1177746733 CA381221321	260	A>S		No	ClinGen gnomAD
CA381221326 rs1467554367	261	L>M		No	ClinGen gnomAD
rs536449046 CA6090432	263	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA381221338 rs1376756054	263	E>K		No	ClinGen TOPMed gnomAD
rs1456445130 CA381221344	264	P>T		No	ClinGen TOPMed
CA6090434 rs372724187	266	E>G		No	ClinGen ESP ExAC gnomAD
CA381221360 rs372724187	266	E>V		No	ClinGen ESP ExAC gnomAD
CA223910298 rs958865366	267	E>*		No	ClinGen gnomAD
CA381221364 rs958865366	267	E>K		No	ClinGen gnomAD
rs958865366 CA381221363	267	E>Q		No	ClinGen gnomAD
rs1417140334 CA381221367	267	E>V		No	ClinGen gnomAD
CA381221385 rs1200261734	270	E>*		No	ClinGen TOPMed gnomAD
CA381221383 rs1200261734	270	E>K		No	ClinGen TOPMed gnomAD
CA381221384 rs1200261734	270	E>Q		No	ClinGen TOPMed gnomAD
CA381221398 rs1308028899	271	E>D		No	ClinGen TOPMed
rs944823702 CA223910317	272	F>Y		No	ClinGen TOPMed
rs755571206 CA6090435	273	L>V		No	ClinGen ExAC TOPMed gnomAD
CA381221414 rs752798483	274	A>G		No	ClinGen ExAC gnomAD
rs1334028602 CA381221412	274	A>S		No	ClinGen TOPMed
rs752798483 CA6090437	274	A>V		No	ClinGen ExAC gnomAD
CA223910337 rs942296412	276	A>T		No	ClinGen TOPMed gnomAD
rs755847042 CA6090441	277	R>C		No	ClinGen ExAC gnomAD
CA223910350 rs932505081	277	R>H		No	ClinGen TOPMed
CA223910359 rs972705409	278	G>D		No	ClinGen TOPMed gnomAD
CA6090442 rs779830576	278	G>S		No	ClinGen ExAC gnomAD
CA381221439 rs749185476	279	R>L		No	ClinGen ExAC gnomAD
CA6090443 rs749185476	279	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	279	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381221445 rs1356383893	281	E>K		No	ClinGen gnomAD
rs768605472 CA6090445	285	R>G		No	ClinGen ExAC gnomAD
CA381221493 rs1342556620	288	E>K		No	ClinGen gnomAD
CA6090446 rs778767817	289	A>T		No	ClinGen ExAC gnomAD
rs747667136 CA6090447	289	A>V		No	ClinGen ExAC gnomAD
CA381221507 rs1178194564	290	E>Q		No	ClinGen TOPMed
rs1292004163 CA381221523	292	G>E		No	ClinGen gnomAD
CA6090450 rs760405227	295	P>S		No	ClinGen ExAC gnomAD
CA6090451 rs544293367	296	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777155033 CA6090452	297	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1191069778 CA381221554	298	P>H		No	ClinGen TOPMed gnomAD
rs1191069778 CA381221556	298	P>L		No	ClinGen TOPMed gnomAD
CA381221557 rs1473362977	299	D>N		No	ClinGen gnomAD
rs918286942 CA223910432	300	V>M		No	ClinGen Ensembl
CA381221582 rs1590812957	302	E>V		No	ClinGen Ensembl
rs1398382914 CA381221599	305	D>N		No	ClinGen gnomAD
CA223910440 rs929602012	306	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	307	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753210905 CA6090456	307	G>R		No	ClinGen ExAC TOPMed gnomAD
rs763074461 CA6090457	309	S>I		No	ClinGen ExAC gnomAD
rs764095355 CA6090458	309	S>R		No	ClinGen ExAC gnomAD
rs751715254 CA6090459	310	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1354103323 CA381221631	310	G>S		No	ClinGen gnomAD
rs867887338 CA223910452	311	F>L		No	ClinGen gnomAD
CA381221643 rs1355277415	312	V>M		No	ClinGen TOPMed
CA6090460 rs557757524	313	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA223910457 rs902263784	314	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	314	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223910460 rs760838571	315	L>F		No	ClinGen Ensembl
CA6090462 rs202137528	317	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381221680 CA6090463 rs754811730	318	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM1509505 rs892953648 CA223910481	319	A>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA381221690 rs1159857578	320	A>P		No	ClinGen gnomAD
CA6090465 rs748044385	320	A>V		No	ClinGen ExAC TOPMed gnomAD
rs771540063 CA6090466	321	A>T		No	ClinGen ExAC TOPMed gnomAD
rs777176694 CA6090467	322	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1403128307 CA381221708	323	Q>*		No	ClinGen gnomAD
rs1309960618 CA381221733	326	F>L		No	ClinGen gnomAD
CA223910503 rs868156032	327	A>V		No	ClinGen gnomAD
CA6090469 rs373776274	328	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6090472 rs770114661	329	Q>R		No	ClinGen ExAC gnomAD
rs375782577 CA6090473	330	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763374483 CA6090474	332	A>T		No	ClinGen ExAC gnomAD
rs764195404 CA381221772	333	G>A		No	ClinGen ExAC TOPMed gnomAD
rs764195404 CA6090475	333	G>D		No	ClinGen ExAC TOPMed gnomAD
CA223910526 rs371442252	334	A>S		No	ClinGen ESP TOPMed gnomAD
CA6090476 rs774439345	334	A>V		No	ClinGen ExAC gnomAD
CA223910527 rs529522145	335	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
rs761933050 CA6090477	336	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1218130092 CA381221794	337	L>P		No	ClinGen TOPMed
CA381221801 rs1273639217	338	A>V		No	ClinGen TOPMed
rs1398491400 CA381221804	339	A>T		No	ClinGen TOPMed
CA6090479 rs767698867	340	F>L		No	ClinGen ExAC TOPMed gnomAD
CA381221810 rs1399780682	340	F>V		No	ClinGen gnomAD
CA223910539 rs11548902	341	A>S		No	ClinGen ExAC gnomAD
CA6090480 rs11548902	341	A>T		No	ClinGen ExAC gnomAD
CA223910548 rs903204646	341	A>V		No	ClinGen gnomAD
CA381221820 rs543247897	342	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6090481 rs543247897	342	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381221819 rs1444494864	342	R>W		No	ClinGen TOPMed gnomAD
CA6090482 rs199798147	345	G>A		No	ClinGen ExAC gnomAD
CA381221853 rs1234947917	347	R>P		No	ClinGen gnomAD
CA381221860 rs1174287312	348	Y>C		No	ClinGen TOPMed
CA381221870 rs1480709365	349	F>L		No	ClinGen TOPMed
CA381221873 rs1323242383	350	A>P		No	ClinGen TOPMed gnomAD
rs1199624024 CA381221876	350	A>V		No	ClinGen gnomAD
CA223910571 rs1035785156	351	L>M		No	ClinGen Ensembl
CA6090485 rs777808525	352	V>L		No	ClinGen ExAC TOPMed gnomAD
rs777808525 CA6090484	352	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1268137358 CA381221892	353	E>D		No	ClinGen gnomAD
rs1195733997 CA381221885	353	E>K		No	ClinGen gnomAD
CA6090487 rs780988341	354	R>Q		No	ClinGen ExAC gnomAD
CA6090486 rs766647509	354	R>W		No	ClinGen ExAC TOPMed gnomAD
rs754097499 CA223910587	355	R>G		No	ClinGen Ensembl
CA223910590 rs754097499	355	R>W		No	ClinGen Ensembl
rs745519623 CA6090488	357	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1171054765 CA381221910	358	Q>E		No	ClinGen gnomAD
rs1425516497 CA381221913	358	Q>R		No	ClinGen gnomAD
rs1463996372 CA381221930	360	Q>R		No	ClinGen gnomAD
rs1388053123 CA381221958	364	D>E		No	ClinGen gnomAD
rs1440259920 CA381221951	364	D>N		No	ClinGen TOPMed
rs749760885 CA6090491	365	N>S		No	ClinGen ExAC TOPMed gnomAD
CA381221978 rs1324913650	368	L>V		No	ClinGen TOPMed
CA381221982 rs1280411706	369	V>M		No	ClinGen gnomAD
rs1316510985 CA381221989	370	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	370	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381221988 rs1316510985	370	R>W		No	ClinGen TOPMed gnomAD
CA6090495 rs767647540	371	A>E		No	ClinGen ExAC gnomAD
rs761865562 CA6090494	371	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1489486624 CA381222012	374	R>C		No	ClinGen gnomAD
rs1208094920 CA381222013	374	R>H		No	ClinGen gnomAD
rs1489486624 CA381222010	374	R>S		No	ClinGen gnomAD
rs1590813107 CA381222017	375	F>I		No	ClinGen Ensembl
CA381222039 rs1243550697	378	R>C		No	ClinGen TOPMed gnomAD
rs1196204405 CA381222040	378	R>H		No	ClinGen gnomAD
CA223910616 rs983414616	380	R>Q		No	ClinGen TOPMed gnomAD
CA6090496 rs773369083	380	R>W		No	ClinGen ExAC gnomAD
rs1357548754 CA381222059	382	P>T		No	ClinGen TOPMed
CA6090497 rs760833936	383	G>R		No	ClinGen ExAC TOPMed gnomAD
CA381222073 rs1459403818	384	A>D		No	ClinGen TOPMed gnomAD
CA223910623 rs963525284	386	L>V		No	ClinGen TOPMed
rs1364409815 CA381222093	388	A>T		No	ClinGen TOPMed gnomAD
rs1400219397 CA381222098	389	A>P		No	ClinGen TOPMed gnomAD
CA381222097 rs1400219397	389	A>T		No	ClinGen TOPMed gnomAD
CA6090500 rs758264336	389	A>V		No	ClinGen ExAC gnomAD
rs751614763 CA381222102 CA6090502	390	G>R		No	ClinGen ExAC TOPMed gnomAD
CA381222113 rs1313920973	392	A>T		No	ClinGen gnomAD
rs1243261472 CA381222121	393	D>N		No	ClinGen gnomAD
CA381222130 rs1170357525	394	A>G		No	ClinGen TOPMed gnomAD
CA6090503 rs756761339	394	A>T		No	ClinGen ExAC gnomAD
CA381222136 rs1219046554	395	A>V		No	ClinGen gnomAD
rs551487687 CA223910632	396	T>M		No	ClinGen 1000Genomes
rs780863504 CA6090504	397	E>D		No	ClinGen ExAC
CA381222156 rs1261356897	398	I>M		No	ClinGen gnomAD
rs1485684405 CA381222159	399	V>M		No	ClinGen gnomAD
rs1185669461 CA381222165	400	E>*		No	ClinGen gnomAD
rs1257997108 CA381222173	401	R>Q		No	ClinGen TOPMed
CA381222184 rs1256607966	403	A>S		No	ClinGen gnomAD
COSM3398038 rs1425412470 CA381222185	403	A>V	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs745475398 CA6090505	404	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381222190 rs755751739	404	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6090506 rs755751739	404	R>L		No	ClinGen ExAC TOPMed gnomAD
CA381222197 CA381222196 rs774831357	405	E>D		No	ClinGen ExAC TOPMed gnomAD
rs749590732 CA6090508	405	E>K		No	ClinGen ExAC TOPMed gnomAD
rs749590732 CA6090509	405	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA381222200 rs1286105060	406	R>C		No	ClinGen TOPMed
rs374731060 CA6090512	406	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6090511 rs374731060	406	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA381222208 rs922059202	408	G>C		No	ClinGen TOPMed gnomAD
rs922059202 CA223910658	408	G>S		No	ClinGen TOPMed gnomAD
CA381222210 rs1381880698	408	G>V		No	ClinGen gnomAD
rs1337749990 CA381222218	409	H>Q		No	ClinGen gnomAD
CA381222220 rs1315028908	410	H>N		No	ClinGen TOPMed gnomAD
CA381222222 rs1315028908	410	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	414	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6090516 rs776971564	415	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771038781 CA381222254	415	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1438603563 CA381222262	416	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA381222291 rs1242498086	421	C>Y		No	ClinGen gnomAD
rs892988050 CA223911536	422	L>P		No	ClinGen gnomAD
rs761863465 CA381222311	424	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1042069929 CA223911544	424	D>N		No	ClinGen TOPMed
CA6090519 rs751485214	424	D>V		No	ClinGen ExAC gnomAD
rs767094496 CA381222319	426	R>C		No	ClinGen ExAC gnomAD
CA6090521 rs767094496	426	R>G		No	ClinGen ExAC gnomAD
rs749867580 CA6090522	428	A>E		No	ClinGen ExAC gnomAD
rs753590445 CA6090525	429	L>M		No	ClinGen ExAC gnomAD
CA381222352 rs1565315612	432	P>T		No	ClinGen Ensembl
rs1590813235 CA381222360	433	R>C		No	ClinGen Ensembl
CA381222365 rs1315933233 COSM1194312	434	V>M	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs772539666 CA6090529	437	K>N		No	ClinGen ExAC gnomAD
rs778303315 CA6090530	439	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1201495000 CA381222410	441	G>D		No	ClinGen gnomAD
CA6090531 rs747048701	441	G>S		No	ClinGen ExAC gnomAD
rs771110751 CA6090532	443	A>P		No	ClinGen ExAC gnomAD
rs771110751 CA381222419	443	A>S		No	ClinGen ExAC gnomAD
rs1200525746 CA381222423	444	E>K		No	ClinGen gnomAD
rs1230665065 CA381222437	445	L>F		No	ClinGen gnomAD
CA381222451 rs1191383483	448	N>D		No	ClinGen gnomAD
CA6090535 rs768521247	448	N>S		No	ClinGen ExAC gnomAD
rs1292807348 CA381222459	449	V>E		No	ClinGen TOPMed
CA6090536 rs774317852	451	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6090538 rs140186079	455	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750430648 CA6090539	456	H>Y		No	ClinGen ExAC gnomAD
CA6090541 rs201089305	457	I>T		No	ClinGen ExAC TOPMed gnomAD
CA381222509 rs1201993741	457	I>V		No	ClinGen gnomAD
CA6090542 rs527307869	459	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381222531 rs1475765988	460	S>F		No	ClinGen gnomAD
rs1191106525 CA381222545	463	A>T		No	ClinGen TOPMed
CA6090543 rs754660795	465	H>L		No	ClinGen ExAC TOPMed gnomAD
CA381222577 rs1271453162	468	T>A		No	ClinGen TOPMed
CA381222586 rs1284104629	469	A>G		No	ClinGen TOPMed
rs1177797205 CA381222584	469	A>S		No	ClinGen TOPMed gnomAD
rs1177797205 CA381222582	469	A>T		No	ClinGen TOPMed gnomAD
rs1405788525 CA381222589	470	K>E		No	ClinGen TOPMed gnomAD
CA381222588 rs1405788525	470	K>Q		No	ClinGen TOPMed gnomAD
rs753040548 CA6090545	470	K>R		No	ClinGen ExAC gnomAD
CA381222611 rs1270846801	473	S>A		No	ClinGen gnomAD
CA381222627 rs747556945	475	S>C		No	ClinGen ExAC
CA6090549 rs747556945	475	S>F		No	ClinGen ExAC
rs1247965201 CA381222636	477	K>Q		No	ClinGen TOPMed gnomAD
rs563771562 CA223911705	481	R>P		No	ClinGen ExAC gnomAD
rs563771562 CA6090553	481	R>Q		No	ClinGen ExAC gnomAD
CA6090552 COSM1676171 rs777607408	481	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA223911922 rs977946774	482	G>C		No	ClinGen TOPMed
CA381222702 rs1331391997	485	C>R		No	ClinGen TOPMed
rs1392392786 CA381222721	487	Q>R		No	ClinGen TOPMed
rs746823866 CA6090577	488	G>V		No	ClinGen ExAC gnomAD
rs1355333328 CA381222735	489	V>G		No	ClinGen gnomAD
rs1390461472 CA381222732	489	V>I		No	ClinGen TOPMed
rs770883799 CA6090578	490	R>H		No	ClinGen ExAC gnomAD
rs776609842 CA6090579 COSM1188296	492	G>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1426757970 CA381222753	492	G>V		No	ClinGen TOPMed
rs759045226 CA6090580	493	L>F		No	ClinGen ExAC gnomAD
rs147241001 CA223911949	494	I>M		No	ClinGen ESP gnomAD
rs764733321 COSM1676172 CA6090581	495	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6090582 rs775068256	496	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6090584 rs372048283	498	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs762615661 CA6090583	498	V>I		No	ClinGen ExAC TOPMed gnomAD
rs751920230 CA6090585	500	S>A		No	ClinGen ExAC gnomAD
rs1554993401 CA6090586	500	S>C		No	ClinGen Ensembl
CA6090588 rs376718956	501	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA223911997 rs914232860	501	M>V		No	ClinGen Ensembl
rs553871458 CA6090589	502	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6090590 COSM2165075 rs140677028	504	T>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA381222831 rs1337083474	505	A>V		No	ClinGen gnomAD
CA381222851 rs1590813534	508	F>C		No	ClinGen Ensembl
rs563134790 CA6090594	510	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA381222891 rs1461208233	514	E>K		No	ClinGen gnomAD
CA6090596 rs779057832	515	K>R		No	ClinGen ExAC gnomAD
CA381222910 rs1436205828	516	G>E		No	ClinGen gnomAD
CA6090598 rs770701525	517	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1281792763 CA381222912	517	G>R		No	ClinGen TOPMed
CA381222916 rs770701525	517	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1378380636 CA381222922	518	A>V		No	ClinGen TOPMed gnomAD
rs1479140645 CA381222926	519	T>I		No	ClinGen TOPMed gnomAD
CA381222931 rs1178250787	520	P>S		No	ClinGen gnomAD
rs1426946004 CA381222940	521	P>L		No	ClinGen gnomAD
CA223912048 rs1036557217	522	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	522	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223912049 rs948707389	522	A>V		No	ClinGen Ensembl
rs1477645065 CA381222971	527	L>P		No	ClinGen TOPMed
rs372980301 CA6090604	529	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6090605 rs768332104	529	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1338048717 CA381222983	530	L>F		No	ClinGen gnomAD
rs1268160739 CA381222991	531	C>Y		No	ClinGen gnomAD
CA6090608 rs762231844	534	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs750900091 CA6090609	535	E>*		No	ClinGen ExAC TOPMed gnomAD
CA223912066 rs750900091	535	E>K		No	ClinGen ExAC TOPMed gnomAD
rs750900091 CA6090610	535	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA6090612 rs142361493	536	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs142361493 CA6090611	536	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs531960659 CA223912084	537	A>S		No	ClinGen 1000Genomes gnomAD
rs1374677773 CA381223028	537	A>V		No	ClinGen gnomAD
rs1460418019 CA381223034	538	T>S		No	ClinGen gnomAD
CA381223041 rs1284318955	539	I>M		No	ClinGen TOPMed
CA223912089 rs199595884	539	I>V		No	ClinGen 1000Genomes gnomAD
rs1434245127 CA381223057	542	I>V		No	ClinGen gnomAD
rs1300966800 CA381223065	543	L>F		No	ClinGen gnomAD
CA381223077 rs1325136641	545	L>F		No	ClinGen gnomAD
CA6090619 rs780989797	547	D>V		No	ClinGen ExAC gnomAD
CA223912108 rs773602855	549	Q>*		No	ClinGen Ensembl
rs769689551 CA6090621	550	F>C		No	ClinGen ExAC
rs1220509271 CA381223109	550	F>V		No	ClinGen gnomAD
CA381223126 rs1186831757	552	V>A		No	ClinGen TOPMed gnomAD
CA6090623 rs748817880	553	Q>K		No	ClinGen ExAC gnomAD
rs1451101822 CA381223169	557	P>T		No	ClinGen gnomAD
rs754450067 CA6090641	558	V>E		No	ClinGen ExAC
rs139150785 CA6090642	559	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1225657037 CA381223187	560	P>S		No	ClinGen gnomAD
TCGA novel	561	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381223193 rs1316583305	561	V>M		No	ClinGen gnomAD
CA381223198 rs1246748564	562	S>G		No	ClinGen TOPMed
rs747378351 CA6090646	563	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1201772058 CA381223213	564	L>P		No	ClinGen gnomAD
rs1241975776 CA381223228	566	A>V		No	ClinGen gnomAD
CA6090648 rs141095389	567	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA381223233 rs1590813795	567	E>G		No	ClinGen Ensembl
rs1178545703 CA381223229	567	E>K		No	ClinGen gnomAD
CA381223240 rs1418161679	568	A>V		No	ClinGen gnomAD
CA381223244 rs1431987286	569	R>K		No	ClinGen gnomAD
rs752502023 CA6090649	571	T>A		No	ClinGen ExAC gnomAD
rs765322623 CA6090650	571	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763071521 CA6090652	572	A>V		No	ClinGen ExAC gnomAD
rs146670601 CA6090655	573	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146670601 CA6090656	573	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6090654 rs144624856	573	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375386887 CA6090658	574	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA6090657 rs753757252	574	R>W		No	ClinGen ExAC TOPMed gnomAD
rs148816548 CA6090659	580	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA381223321 rs1590813823	582	V>G		No	ClinGen Ensembl
CA6090660 rs747602510	583	Q>E		No	ClinGen ExAC gnomAD
CA381223324 rs1230682142	583	Q>R		No	ClinGen gnomAD
rs370861729 CA6090661	585	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs746675463 CA6090663	587	I>T		No	ClinGen ExAC gnomAD
CA381223359 rs1199182772	589	Q>*		No	ClinGen gnomAD
CA6090664 rs771374903 COSM930322	589	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs143500542 CA223912332	590	M>L		No	ClinGen ESP gnomAD
CA6090665 rs776892803	591	L>P		No	ClinGen ExAC gnomAD
rs1425524144 CA381223378	592	R>C		No	ClinGen TOPMed gnomAD
CA223912336 rs879429468	592	R>H		No	ClinGen gnomAD
rs1347129192 CA381223381	593	K>E		No	ClinGen gnomAD
rs191494770 CA381223395	594	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763016414 CA6090669	595	V>A		No	ClinGen ExAC gnomAD
rs571448656 CA6090668	595	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571448656 CA6090667	595	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1216325980 CA381223413	597	T>I		No	ClinGen gnomAD
CA381223416 rs1270256394	598	R>C		No	ClinGen gnomAD
rs1306462526 CA381223419	598	R>H		No	ClinGen gnomAD
CA223912371 rs534032173	599	D>G		No	ClinGen 1000Genomes
CA6090671 rs774498013	599	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1489730847 CA381223434	600	W>C		No	ClinGen gnomAD
rs200709758 CA223912376	601	L>I		No	ClinGen TOPMed gnomAD
rs960545712 CA223912380	603	T>I		No	ClinGen TOPMed
rs1243064041 CA381223448	603	T>P		No	ClinGen gnomAD
CA381223456 rs1342894246	604	L>P		No	ClinGen TOPMed
CA381223465 rs1185349714	605	E>D		No	ClinGen gnomAD
rs1157616504 CA381223470	606	P>L		No	ClinGen TOPMed
CA381223467 rs1418870280	606	P>S		No	ClinGen gnomAD
rs753543955 CA6090674	607	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766154023 CA6090673	607	R>W		No	ClinGen ExAC TOPMed gnomAD
rs77671913 CA223912432	611	A>S		No	ClinGen ExAC gnomAD
rs77671913 CA6090675	611	A>T		No	ClinGen ExAC gnomAD
rs1268381440 CA381223498	612	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1361220276 CA381223515	614	K>*		No	ClinGen gnomAD
rs1316547460 CA381223524	615	R>P		No	ClinGen TOPMed gnomAD
CA381223522 rs1316547460	615	R>Q		No	ClinGen TOPMed gnomAD
CA6090677 rs201155694	615	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1590813911 CA381223529	616	V>G		No	ClinGen Ensembl
rs757928017 CA6090678	616	V>M		No	ClinGen ExAC gnomAD
rs777451274 CA6090679	617	V>A		No	ClinGen ExAC gnomAD
CA381223534 rs777451274	617	V>G		No	ClinGen ExAC gnomAD
TCGA novel	618	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381223545 rs1285381748	619	D>Y		No	ClinGen TOPMed gnomAD
CA381223557 rs1590813924	621	T>P		No	ClinGen Ensembl
rs1565317115 CA381223564	622	A>D		No	ClinGen Ensembl
CA223912464 rs543294	622	A>P		No	ClinGen ExAC gnomAD
rs543294 CA6090682	622	A>T		No	ClinGen ExAC gnomAD
CA381223568 rs1462172863	623	I>V		No	ClinGen gnomAD
rs1446043077 CA381223576	624	D>N		No	ClinGen TOPMed gnomAD
CA381223574 rs1446043077	624	D>Y		No	ClinGen TOPMed gnomAD
CA6090685 rs780357113	625	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6090712 rs748211136	629	L>F		No	ClinGen ExAC gnomAD
CA381223623 rs1345986114	629	L>P		No	ClinGen TOPMed
TCGA novel	632	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338770736 CA381223658	634	G>V		No	ClinGen gnomAD
rs115159943 CA6090713	635	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6090714 rs773252794	636	R>C		No	ClinGen ExAC TOPMed gnomAD
CA381223666 rs773252794	636	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	636	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381223669 rs1271265366	636	R>L		No	ClinGen gnomAD
rs769440098 CA6090716	637	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6090717 rs775395423	639	Q>L		No	ClinGen ExAC gnomAD
CA6090718 rs762891136	644	S>G		No	ClinGen ExAC gnomAD
rs1451801162 CA381223727	645	K>Q		No	ClinGen TOPMed
CA381223736 rs1407092714	646	R>G		No	ClinGen gnomAD
rs1330958959 CA381223744	647	T>S		No	ClinGen TOPMed gnomAD
CA381223753 rs1338457806	648	F>C		No	ClinGen TOPMed
CA381223755 rs1228872948	648	F>L		No	ClinGen gnomAD
CA381223752 rs1338457806	648	F>S		No	ClinGen TOPMed
CA6090721 rs751614812	650	V>E		No	ClinGen ExAC TOPMed gnomAD
CA381223764 rs1253140518	650	V>L		No	ClinGen gnomAD
CA223912964 rs147082259	652	S>G		No	ClinGen ESP
rs1165783134 CA381223782	653	S>R		No	ClinGen TOPMed
CA6090722 rs761159690	654	S>F		No	ClinGen ExAC gnomAD
CA223912966 rs962300354	654	S>P		No	ClinGen TOPMed
TCGA novel	655	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	655	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767066091 CA6090723	656	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	656	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381223819 rs1590814367	658	G>V		No	ClinGen Ensembl
rs1197338811 CA381223822	659	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1490908739 CA381223824	659	R>H		No	ClinGen gnomAD
CA6090724 rs749994347	660	Y>*		No	ClinGen ExAC gnomAD
rs755820870 CA6090725	661	A>V		No	ClinGen ExAC gnomAD
CA381223843 rs1432521590	662	P>L		No	ClinGen gnomAD
CA381223839 rs1390231762	662	P>S		No	ClinGen TOPMed
rs200696699 CA6090727	663	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381223844 rs1590814393 COSM930323	663	S>R	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA6090729 rs779385045	664	Y>*		No	ClinGen ExAC gnomAD
rs755391388 CA6090728	664	Y>C		No	ClinGen ExAC gnomAD
CA381223867 rs1365747246	666	P>R		No	ClinGen gnomAD
TCGA novel	667	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6090747 rs755280975	669	P>A		No	ClinGen ExAC TOPMed gnomAD
rs372760329 CA6090748	669	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372760329 CA6090749	669	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA223913033 rs755280975	669	P>S		No	ClinGen ExAC TOPMed gnomAD
rs541578769 CA6090750	670	M>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	672	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1337465491 CA381223918	672	T>I		No	ClinGen gnomAD
rs1312230270 CA381223963	679	Q>K		No	ClinGen TOPMed gnomAD
rs1004813594 CA223913052	679	Q>R		No	ClinGen Ensembl
CA6090753 rs757481687	685	R>H		No	ClinGen ExAC gnomAD
rs138579763 CA6090754	690	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1462301962 CA381224059	693	E>Q		No	ClinGen gnomAD
CA381224071 rs1179640983	694	F>C		No	ClinGen gnomAD
CA6090757 rs774233371	695	N>S		No	ClinGen ExAC gnomAD
rs1473353947 CA381224076	695	N>Y		No	ClinGen TOPMed
rs747933664 CA6090758	696	K>R		No	ClinGen ExAC gnomAD
rs773919338 CA6090811	697	V>G		No	ClinGen ExAC TOPMed gnomAD
CA381224275 rs1162428142	698	S>L		No	ClinGen gnomAD
CA381224274 rs1162428142	698	S>W		No	ClinGen gnomAD
rs866044625 CA223913399	702	G>D		No	ClinGen Ensembl
CA381224306 rs1156902049	703	I>L		No	ClinGen TOPMed gnomAD
CA381224315 rs1469820534	704	I>V		No	ClinGen gnomAD
rs1391117699 CA381224324	705	K>R		No	ClinGen TOPMed
rs897611230 CA223913410	706	I>M		No	ClinGen TOPMed
CA6090814 rs766380581	711	L>V		No	ClinGen ExAC gnomAD
CA6090816 rs754053789	713	E>A		No	ClinGen ExAC gnomAD
CA381224376 rs377108289	713	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs767664796 CA6090815	714	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1590814963 CA381224384	714	C>W		No	ClinGen Ensembl
CA223913430 rs890407037	715	V>M		No	ClinGen TOPMed
rs1324911574 COSM1238334 CA381224390	716	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs751346711 CA6090819	718	R>C		No	ClinGen ExAC TOPMed gnomAD
CA381224402 rs1442045175	718	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1233210440 CA381224410	719	T>I		No	ClinGen gnomAD
rs1590814980 CA381224405	719	T>P		No	ClinGen Ensembl
CA6090821 rs781041245	720	F>C		No	ClinGen ExAC TOPMed gnomAD
CA223913435 rs1017320178	720	F>L		No	ClinGen TOPMed
CA6090822 rs745820333	721	G>W		No	ClinGen ExAC gnomAD
CA6090823 rs755603803	722	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6090824 rs779459567	722	R>H		No	ClinGen ExAC gnomAD
CA381224424 rs779459567	722	R>L		No	ClinGen ExAC gnomAD
rs748868923 CA6090825	723	F>L		No	ClinGen ExAC gnomAD
CA381224439 rs371792750	725	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565319279 CA381224455	727	Q>P		No	ClinGen Ensembl
CA223913447 rs144112052	728	V>L		No	ClinGen ESP gnomAD
rs773794586 CA6090830	731	D>V		No	ClinGen ExAC TOPMed gnomAD
CA381224517 rs1590815019	736	Q>*		No	ClinGen Ensembl
rs147317726 CA6090832	741	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA223913469 rs940443049	746	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	746	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs539373179 CA6090835	748	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA223913478 rs751397953	749	V>M		No	ClinGen Ensembl
CA381224634 rs1427496157	754	D>N		No	ClinGen gnomAD
CA381224648 rs1565319416	755	E>D		No	ClinGen Ensembl
rs780087985 CA6090841	757	V>L		No	ClinGen ExAC gnomAD
rs1590815086 CA381224673	760	A>T		No	ClinGen Ensembl
rs1565319452 CA381224692	763	R>C		No	ClinGen Ensembl
rs1228168893 CA381224695	763	R>L		No	ClinGen gnomAD
CA381224699 rs1299927659	764	C>Y		No	ClinGen gnomAD
CA381224718 rs1340300647	767	P>S		No	ClinGen gnomAD
CA223913488 rs901666528	768	V>M		No	ClinGen gnomAD
CA381224736 rs1488707935	770	M>V		No	ClinGen gnomAD
rs1388531106 CA381224762	773	S>T		No	ClinGen TOPMed
CA6090845 rs747813174	779	C>S		No	ClinGen ExAC gnomAD
CA6090846 rs772513892	780	E>V		No	ClinGen ExAC TOPMed gnomAD
CA381224815 rs1213898024	781	R>C		No	ClinGen TOPMed gnomAD
TCGA novel	783	G>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with Q9UID3

[MIM: 618606]: Pontocerebellar hypoplasia 13 (PCH13)

A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH13 is an autosomal recessive form characterized by delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy and hypoplastic corpus callosum. Additional features, including seizures and visual impairment, are variable. {ECO:0000269|PubMed:30624672, ECO:0000269|PubMed:31207318}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH13 is an autosomal recessive form characterized by delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy and hypoplastic corpus callosum. Additional features, including seizures and visual impairment, are variable. {ECO:0000269|PubMed:30624672, ECO:0000269|PubMed:31207318}. Note=The disease may be caused by variants affecting the gene represented in this entry.

1 regional properties for Q9UID3

Type	Name	Position	InterPro Accession
domain	Exocyst complex component EXOC2/Sec5, N-terminal domain	64 - 288	IPR039481

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus, trans-Golgi network Recycling endosome	Localizes to the trans-Golgi network as part of the GARP complex, while it localizes to recycling endosomes as part of the EARP complex (PubMed:25799061)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
EARP complex	A quatrefoil tethering complex required for endocytic recycling.
GARP complex	A quatrefoil tethering complex required for retrograde traffic from the early endosome back to the late Golgi and biogenesis of cytoplasmic vesicles.
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.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
recycling endosome	An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.
trans-Golgi network membrane	The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

9 GO annotations of biological process

Name	Definition
autophagy	The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
brain morphogenesis	The process in which the anatomical structures of the brain are generated and organized. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
endocytic recycling	The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins.
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
Golgi vesicle transport	The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles.
lipid transport	The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
lysosomal transport	The directed movement of substances into, out of or within a lysosome.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
retrograde transport, endosome to Golgi	The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6QQ47	VPS51	Vacuolar protein sorting-associated protein 51 homolog	Bos taurus (Bovine)	PR
Q3UVL4	Vps51	Vacuolar protein sorting-associated protein 51 homolog	Mus musculus (Mouse)	PR
Q4V9Y0	vps51	Vacuolar protein sorting-associated protein 51 homolog	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q155U0	vps51	Vacuolar protein sorting-associated protein 51 homolog	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MAAAAAAGPS	PGSGPGDSPE	GPEGEAPERR	RKAHGMLKLY	YGLSEGEAAG	RPAGPDPLDP
70	80	90	100	110	120
TDLNGAHFDP	EVYLDKLRRE	CPLAQLMDSE	TDMVRQIRAL	DSDMQTLVYE	NYNKFISATD
130	140	150	160	170	180
TIRKMKNDFR	KMEDEMDRLA	TNMAVITDFS	ARISATLQDR	HERITKLAGV	HALLRKLQFL
190	200	210	220	230	240
FELPSRLTKC	VELGAYGQAV	RYQGRAQAVL	QQYQHLPSFR	AIQDDCQVIT	ARLAQQLRQR
250	260	270	280	290	300
FREGGSGAPE	QAECVELLLA	LGEPAEELCE	EFLAHARGRL	EKELRNLEAE	LGPSPPAPDV
310	320	330	340	350	360
LEFTDHGGSG	FVGGLCQVAA	AYQELFAAQG	PAGAEKLAAF	ARQLGSRYFA	LVERRLAQEQ
370	380	390	400	410	420
GGGDNSLLVR	ALDRFHRRLR	APGALLAAAG	LADAATEIVE	RVARERLGHH	LQGLRAAFLG
430	440	450	460	470	480
CLTDVRQALA	APRVAGKEGP	GLAELLANVA	SSILSHIKAS	LAAVHLFTAK	EVSFSNKPYF
490	500	510	520	530	540
RGEFCSQGVR	EGLIVGFVHS	MCQTAQSFCD	SPGEKGGATP	PALLLLLSRL	CLDYETATIS
550	560	570	580	590	600
YILTLTDEQF	LVQDQFPVTP	VSTLCAEARE	TARRLLTHYV	KVQGLVISQM	LRKSVETRDW
610	620	630	640	650	660
LSTLEPRNVR	AVMKRVVEDT	TAIDVQVGLL	YEEGVRKAQS	SDSSKRTFSV	YSSSRQQGRY
670	680	690	700	710	720
APSYTPSAPM	DTNLLSNIQK	LFSERIDVFS	PVEFNKVSVL	TGIIKISLKT	LLECVRLRTF
730	740	750	760	770	780
GRFGLQQVQV	DCHFLQLYLW	RFVADEELVH	LLLDEVVASA	ALRCPDPVPM	EPSVVEVICE

RG